Journal articles on the topic 'Gait disorders in old age'
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1
Pratali, Lorenza, Francesca Mastorci, Nicola Vitiello, Annamaria Sironi, Amalia Gastaldelli, and Angelo Gemignani. "Motor Activity in Aging: An Integrated Approach for Better Quality of Life." International Scholarly Research Notices 2014 (November 24, 2014): 1–9. http://dx.doi.org/10.1155/2014/257248.
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Old age is normally associated with stereotypical structural and physiological changes in the brain that are caused by deterioration in elementary cognitive, sensory, and sensorimotor functions as well as increased susceptibility to stress. These changes are connected with gait impairment and falls, especially among patients with common neurological diseases. Even in the absence of history of falling or when there is no physical injury after a fall, many older people develop a fear of falling that leads to restricted mobility, reduced activity, depression, social isolation, worsened metabolic disease, and increasing risk of cardiovascular morbidity and mortality. Although links between cognitive decline and age-associated brain changes have been clarified, relationships between gait disorders and psychophysiological alterations in aging are less well understood. This review focuses on two crucial elements of aged individuals with gait disorders: characteristic comorbidities in the elderly and the psychophysiological effects of physical exercise in the elderly with gait disorder. We propose an integrated approach to studying elderly subjects with gait disorder before starting a program of motor rehabilitation with wearable robotic devices, in order to investigate the effectiveness and safety of the ambulatory training.
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McGibbon, Chris A., and David E. Krebs. "Age-Related Changes in Lower Trunk Coordination and Energy Transfer During Gait." Journal of Neurophysiology 85, no. 5 (May 1, 2001): 1923–31. http://dx.doi.org/10.1152/jn.2001.85.5.1923.
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The effects of aging on lower trunk ( trunk–low-back joint–pelvis) coordination and energy transfer during locomotion has received little attention; consequently, there are scant biomechanical data available for comparison with patient populations whose upper body movements may be impaired by orthopaedic or neurologic disorders. To address this problem, we analyzed gait data from a cross-sectional sample of healthy adults ( n = 93) between 20 and 90 yr old ( n = 44 elderly, >50 yr old; n = 49 young, <50 yr old). Gait characteristics of elders were mostly typical: gait speed of elders (1.13 ± 0.20 m/s) was significantly ( P = 0.007) lower than gait speed of young subjects (1.20 ± 0.18 m/s). Although elders had less low-back (trunk relative to pelvis) range of motion (ROM; P = 0.013) during gait than young subjects, no age-related differences were detected in absolute trunk and pelvis ROM or peak pitch angles during gait. Despite similar upper body postures, there was a strong association between age and pelvis-trunk angular velocity phase angle ( r = 0.48, P < 0.001) with zero phase occurring at approximately 55 yr of age; young subjects lead with the pelvis while elderly subjects lead with the trunk. Age related changes in gait speed and low-back ROM were unable to explain the above findings. The trunk-leading strategy used by elders resulted in a sense reversal of the low-back joint power curve and increased ( P = 0.013) the mechanical energy expenditure required for eccentric control of the lower trunk musculature during stance phase of gait. These data suggest an age-related change in the control of lower trunk movements during gait that preserves upper body posture and walking speed but requires a leading trunk and higher mechanical energy demands of lower trunk musculature—two factors that may reduce the ability to recover from dynamic instabilities. The behavioral and motor control aspects of these findings may be important for understanding locomotor impairment compensations in aging humans and in quantifying falls risk.
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Tarantini, Stefano, Andriy Yabluchanskiy, Gábor A. Fülöp, Tamas Kiss, Aleksandra Perz, Daniel O’Connor, Emily Johnson, Farzaneh Sorond, Zoltan I. Ungvari, and Anna Csiszar. "Age-Related Alterations in Gait Function in Freely Moving Male C57BL/6 Mice: Translational Relevance of Decreased Cadence and Increased Gait Variability." Journals of Gerontology: Series A 74, no. 9 (November 1, 2018): 1417–21. http://dx.doi.org/10.1093/gerona/gly242.
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Abstract Age-related gait dysfunction and balance disorders are a major cause of falls and injury in the elderly population. Epidemiological studies have shown that disturbances in gait coordination which manifest with age are associated with increased morbidity and mortality, impaired cognitive capacity, as well as reduced level of function and loss of independence. In geroscience, mice are the most frequently used model system to test efficiency of antiaging interventions. Despite the clinical importance of age-related gait abnormalities in older adults, the impact of aging on mouse gait coordination is not well documented in the literature. To characterize the effect of aging on mouse gait, we assessed gait function in young (3-month-old) and aged (24-month-old) freely moving C57BL/6 mice using the semiautomated, highly sensitive CatWalk XT system for quantitative assessment of footfall and motor performance. We found that aged mice exhibited significantly decreased cadence and increased stride time variability. Aging also tended to alter footfall patterns. In aged mice, speed, swing speed, stride length, duty cycle, base of support, terminal dual stance, the regularity index, and the gait symmetry index were unaltered. Thus, aging is associated with characteristic alterations in gait function in C57BL/6 mice, which could potentially be assessed as clinically relevant endpoints in geroscience studies testing the effects of antiaging interventions.
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Dolganova, Tamara I., Lidia V. Smolkova, and Dmitry V. Dolganov. "BIOMECHANICAL CHARACTERISTICS OF THE LOCOMOTOR ACTIVITY IN CHILDREN OF 3–6 YEARS OLD WITHOUT MOVEMENT DISORDERS." Journal of Ural Medical Academic Science 19, no. 5 (2022): 502–13. http://dx.doi.org/10.22138/2500-0918-2022-19-5-502-513.
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Purpose of the study — to form normative guidelines for the values of kinetic and kinematic parameters of gait in children aged 3–6 years without motor disorders. Materials and methods. Using video analysis to determine the normative range of the values of locomotor characteristics, the gait profile (Gait profile Score — GPS) was assessed in children aged 3–6 years (n=16) without movement disorders in the laboratory of biomechanics of the Ilizarov Centre. Kinematic parameters were recorded with Qualisys 7+ optical cameras (n=8), kinetic parameters were recorded using Kistler dynamometric platforms (n=6). The examination consisted of two tests: 1 — independent walking with the usual speed of movement on a 7-m track; 2 — carried out on the background of comfortable for the child accompaniment by an adult for 1 hand. Analysis of results was carried out by automated calculations of kinematics and kinetics values using descriptive statistics. The assessment of the normality of the distribution of the studied parameters was performed according to 12 univariate criteria. Results. It has been established that the main characteristics of locomotor activity in age-homogeneous groups of children aged 3–6 years obey the normal distribution function and, therefore, the normative range of functioning values can be determined by the rule of sigma deviations. The article presents selective values of kinematic and kinetic parameters of gait in children aged 3–6 years without movement disorders recommended as normative guidelines. Conclusions. For children 3–4 years old, examination conditions are acceptable both independently and with support by the hand. For children aged 5–6 years, the examination should include only independent walking, walking with support by the hand distorts the structure of the locomotor stereotype of the accompanying person, and therefore such a gait should be regarded as unnatural
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Vieira Brito, Diana, Marcus Vinicius Della Coletta, Satiko Andrezza Takano, Giselle Benevides Monteiro Ferreira, and Cleiton Fantin. "Juvenile Huntington’s disease in northern Brazil: a case series report." Revista de Ciências Médicas e Biológicas 21, no. 2 (October 31, 2022): 302–7. http://dx.doi.org/10.9771/cmbio.v21i2.48469.
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Introduction: Huntington’s disease (HD) is a neurodegenerative disorder caused by CAG expansion repeats in the HTT gene. Usually, the symptoms start to manifest in mid-adulthood. In about 5% of cases, however, the signs begin before the age of 20 years. These cases are known as juvenile HD (JHD). Objective: Here we report a case series of JHD from Amazonas, a state where data are scarce due to the restricted access to specialized medical assistance for diagnosis and care. Case series: The patients were attended by neurologists specialized in movement disorders at Manaus. Two cases manifested the disease in childhood (6 and 7 years old) and two cases, in adolescence (12 and 16 years old). All cases showed dystonia and parkinsonism as predominant motor disorders. Moreover, signs of cognitive decline, depression, and psychosis were observed in all patients. Conversely, cerebellar signs, gait disturbances, seizures, and some psychiatric symptoms were variable among the cases. Expansion size varied from 66 to 84 to CAG repeats and the difference in age at onset between parent and child varied from 23 to 43 years. Conclusion: To our knowledge, these are the first clinical reports of JHD in northern Brazil. These cases illustrate the variability in clinical phenotypes and genetic features of JHD cases. Furthermore, they can contribute to the awareness of HD here, both by professionals and the public in general.
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Martínez-Ramírez, Alicia, Ion Martinikorena, Pablo Lecumberri, Marisol Gómez, Nora Millor, Alvaro Casas-Herrero, Fabrício Zambom-Ferraresi, and Mikel Izquierdo. "Dual Task Gait Performance in Frail Individuals with and without Mild Cognitive Impairment." Dementia and Geriatric Cognitive Disorders 42, no. 1-2 (2016): 7–16. http://dx.doi.org/10.1159/000447451.
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Background: Several studies have stated that frailty is associated with cognitive impairment. Based on various studies, cognition impairment has been considered as a component of frailty. Other authors have shown that physical frailty is associated with low cognitive performance. Dual task gait tests are used as a strong predictor of falls in either dementia or frailty. Consequently, it is important to investigate dual task walking tests in elderly populations including control robust oldest old, frail oldest old with mild cognitive impairment (MCI) and frail oldest old without MCI. Methods: Dual task walking tests were carried out to examine the association between frailty and cognitive impairment in a population with advanced age. Forty-one elderly men and women participated in this study. The subjects from control, frail with MCI and frail without MCI groups, completed the 5-meter walk test at their own gait velocity. Arithmetic and verbal dual task walking performance was also assessed. Kinematic data were acquired from a unique tri-axial inertial sensor. Results: The spatiotemporal and frequency parameters related to gait disorders did not show any significant differences between frail with and without MCI groups. Conclusions: The evaluation of these parameters extracted from the acceleration signals led us to conclude that these results expand the knowledge regarding the common conditions in frailty and MCI and may highlight the idea that the impairment in walking performance does not depend of frailty and cognitive status.
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Miqdad and Sushil Kumar Pawar. "Comparison of mini-bestest and dynamic gait index for prediction of fall susceptibility in old individuals." International Journal of Research in Medical Sciences 5, no. 7 (June 24, 2017): 3018. http://dx.doi.org/10.18203/2320-6012.ijrms20172980.
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Background: Emphasis on early identification, prevention, and intervention of fall risk in elderly people is becoming increasingly important in the fields of physical therapy and rehabilitation.Methods: Various scales are currently used for assessment of balance and fall risk. We have selected, MiniBESTest and DGI for our present study. We compared scores of Mini-BESTest and DGI in 30 elderly subjects with mean age of 62.23±4.38yrs. These subjects included 17 completely normal individuals, whereas 13 subjects were having early clinical features of fall-related disorders. Example: Parkinsonism, vertigo and paresis.Results: The data indicated that Mini-BESTest is more superior than DGI to indicate the fall risk in normal elderly population. Similarly, in cases of paresis and Parkinsonism, results are indicating that Mini-BESTest is better suited than the DGI. But in cases of vertigo, the results indicate that DGI is more superior than Mini-BESTest.Conclusions: An interesting finding is that the DGI scale seems to be more superior in subjects having vertigo (Refer Table-4), which is to be verified by further studies in a larger sample. The point which justifies the above conclusion is that the DGI scale includes many items which test the vestibular apparatus.
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Vallat, Wilson, and Timothy Kleinig. "096 A 47-year old female with slowly progressive cognitive impairment and motor decline." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 6 (May 24, 2018): A38.2—A38. http://dx.doi.org/10.1136/jnnp-2018-anzan.95.
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IntroductionWe present the case of a woman with an 8 year history of slowly progressive cognitive dysfunction and gait disturbance, and a diagnosis of vanishing white matter disease (VWMD).CaseThe patient struggled at work as an accountant, her hand writing became illegible, she had difficulty judging distances when driving and she had developed gait instability, slowing and falls. Her past medical history was unremarkable save for premature menopause at 35. Examination showed marked cognitive impairment ACE-R 59/100 (attention and orientation – 13/18, memory – 16/26, fluency – 1/14, language – 21/26, visuospatial – 8/16), reduced dexterity of hands, left upper limb ataxia and high- level gait dysfunction. MRI brain showed leukodystrophy with frontal predominance. Relevant investigations – white cell enzymes, very long chain fatty acids, phytanic acid, CSF were normal. In view of the clinical and radiological features genetic testing with leukodystrophy panel was performed which revealed homozygous eukaryotic translation initiation factor B3 (EIF2B3) mutation (p.Ala87Val variant). Adult onset leukodystrophies are rare genetic metabolic disorders of the glial cells. The white matter (WM) degeneration causes disruption of distributed neural networks resulting in variable constellation of cognitive dysfunction, ataxia, pyramidal and extrapyramidal signs. The clinical and radiological phenotypes overlap and there are up to 60 genes that account for adult onset leukodystrophy, which makes diagnosis challenging. Vanishing white matter disease due to EIF2B gene mutation are a group of disorders that result from mutation of any of the EIF2B subunits (1 to 5). Two thirds have associated premature ovarian failure. MRI shows confluent WM T2 high signal, subcortical U Fibre sparing, periventricular WM rarefaction and cerebral atrophy. Management is symptomatic.ConclusionAdult onset VWMD is a rare and devastating condition. When evaluating these patients targeted gene testing guided by clinical and radiological phenotype is likely to provide the highest diagnostic yield. Establishing the diagnosis is important as it has implications on future generations.
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Jogerst, Gerald J. "Evaluation of early non-cognitive markers of dementia." Russian Family Doctor 25, no. 4 (December 15, 2021): 7–14. http://dx.doi.org/10.17816/rfd83791.
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Population aging is inextricably linked to an increase in the prevalence of dementia, which are one of the main causes of loss of autonomy in old age. However, early detection of cognitive decline is critical to proactively implementing interventions to slow the progression of cognitive decline and maintain the ability to live independently of outside help. Therefore, early detection of cognitive decline is one of the primary tasks of the general practitioner.
The aim of the lecture is to present a low gait speed, frailty, neuropsychiatric symptoms, sleep disorders and hearing loss as biomarkers of high risk to development of dementia risk and suggest ways measuring these risk factors in primary health care.
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Khanjari, Y., and E. A. Ameri. "Effects of 8 Weeks Water Cure with Aquatic Devices on Static Balance and Velocity of Gait among Elderly Men." International Letters of Social and Humanistic Sciences 60 (September 2015): 137–42. http://dx.doi.org/10.18052/www.scipress.com/ilshs.60.137.
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Background: Aging is a stage of life that increases the risk of physical diseases, some of which are chronic and can affect different dimensions of life’s quality. Hydrotherapy is used to treat rheumatic, orthopedic and neurological disorders. It has been the subject of investigations regarding balance and gating recovery in elderly people. Objective: To evaluate the effect 8 weeks water cure program with aquatic devices on static balance and velocity of gait in elderly men.Methods: : Fifteen old men were chosen purposely by age mean and Std 58±6.5, length 167.12±7.35 cm, weight 75.64±7.64. . We used the Sharpened Romberg test (static balance with eyes open and close) and Timed Up & Go (for evaluating velocity of gait). we used a selected program in water with aquatic devices in 8 weeks. Water exercise session included of three parts warm up, main part of exercise, and cool down. we analyzed the achieved data by a correlated t-test at a meaningful level (p≤0.05).Results: Among the post-test and pre-test Romberg test ( p≤013) and the velocity of gait (p≤005) were recovered meaningfully after the program.Conclusions: The results showed that participating in an exercise in water program with aquatic devices on a regular basis can be considered as an effective and reliable method to increase balance, and it can promote quality and velocity of gait among these aged men.
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Meira, Bruna, Rafael Roque, Miguel Pinto, and André Caetano. "Late-onset presentation of POLG1-associated mitochondrial disease." BMJ Case Reports 12, no. 3 (March 2019): e228482. http://dx.doi.org/10.1136/bcr-2018-228482.
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Mutations in the nuclear POLG1 gene compromise the integrity of mitochondrial DNA and show great allelic and clinical heterogeneity. Among adult POLG1-associated mitochondrial disease, the main clinical feature is chronic progressive external ophthalmoplegia. Other related clinical manifestations are sensory or cerebellar ataxia, peripheral neuropathy, myopathy or extrapyramidal symptoms. We report the case of a 72-year-old man who presented with a late onset sensory neuronopathy, chronic progressive external ophthalmoplegia, gait ataxia and parkinsonism. Genetic studies showed a compound heterozygosity of known pathogenic mutations in the POLG1 gene (variant T252I/P587 L in cis configuration in allele 1 and variant R807C in allele 2). Late life presentation highlights that mitochondrial disorders should be considered regardless of age of onset of symptoms.
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Salazar-Torres, Jose J., Chris Church, Thomas Shields, M. Wade Shrader, Lydia Fisher, William G. Mackenzie, and W. G. Stuart Mackenzie. "Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV)." Diagnostics 11, no. 8 (July 27, 2021): 1350. http://dx.doi.org/10.3390/diagnostics11081350.
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Morquio syndrome (mucopolysaccharidosis IV/MPS IV) is a genetic disorder leading to skeletal abnormalities and gait deviations. Research on the gait patterns and lower extremity physical characteristics associated with skeletal dysplasia in children with MPS IV is currently limited. This research aimed to provide baseline gait patterns and lower limb skeletal alignment of children with MPS IV utilizing three-dimensional instrumented gait analysis. This Institutional Review Board-approved retrospective study evaluates the kinematics of the lower extremities of children with MPS IV during gait, comparing them with an age-matched group of typically developing children. Thirty-three children with MPS IV were included (8.6 ± 4.0 years old). Children with MPS IV walk with increased anterior pelvic tilt, knee valgus, knee flexion, external tibial torsion, and reduced walking speed and stride length (p < 0.001). Multiplanar abnormal alignment results in abnormal knee moments (p < 0.001). Limited correlations exist (r = 0.69–0.28) between dynamic three-dimensional measurements of knee varus/valgus and rotational alignment and traditional static two-dimensional measures (physical examination or radiographs) suggesting the possibility of knee instability during gait and the benefits of dynamic assessment.
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Shah, Vrutangkumar V., James McNames, Graham Harker, Martina Mancini, Patricia Carlson-Kuhta, John G. Nutt, Mahmoud El-Gohary, Carolin Curtze, and Fay B. Horak. "Effect of Bout Length on Gait Measures in People with and without Parkinson’s Disease during Daily Life." Sensors 20, no. 20 (October 12, 2020): 5769. http://dx.doi.org/10.3390/s20205769.
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Although the use of wearable technology to characterize gait disorders in daily life is increasing, there is no consensus on which specific gait bout length should be used to characterize gait. Clinical trialists using daily life gait quality as study outcomes need to understand how gait bout length affects the sensitivity and specificity of measures to discriminate pathological gait as well as the reliability of gait measures across gait bout lengths. We investigated whether Parkinson’s disease (PD) affects how gait characteristics change as bout length changes, and how gait bout length affects the reliability and discriminative ability of gait measures to identify gait impairments in people with PD compared to neurotypical Old Adults (OA). We recruited 29 people with PD and 20 neurotypical OA of similar age for this study. Subjects wore 3 inertial sensors, one on each foot and one over the lumbar spine all day, for 7 days. To investigate which gait bout lengths should be included to extract gait measures, we determined the range of gait bout lengths available across all subjects. To investigate if the effect of bout length on each gait measure is similar or not between subjects with PD and OA, we used a growth curve analysis. For reliability and discriminative ability of each gait measure as a function of gait bout length, we used the intraclass correlation coefficient (ICC) and area under the curve (AUC), respectively. Ninety percent of subjects walked with a bout length of less than 53 strides during the week, and the majority (>50%) of gait bouts consisted of less than 12 strides. Although bout length affected all gait measures, the effects depended on the specific measure and sometimes differed for PD versus OA. Specifically, people with PD did not increase/decrease cadence and swing duration with bout length in the same way as OA. ICC and AUC characteristics tended to be larger for shorter than longer gait bouts. Our findings suggest that PD interferes with the scaling of cadence and swing duration with gait bout length. Whereas control subjects gradually increased cadence and decreased swing duration as bout length increased, participants with PD started with higher than normal cadence and shorter than normal stride duration for the smallest bouts, and cadence and stride duration changed little as bout length increased, so differences between PD and OA disappeared for the longer bout lengths. Gait measures extracted from shorter bouts are more common, more reliable, and more discriminative, suggesting that shorter gait bouts should be used to extract potential digital biomarkers for people with PD.
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Bishnoi, Alka, Rachel Lee, Yang Hu, Jeannette R. Mahoney, and Manuel E. Hernandez. "Effect of Treadmill Training Interventions on Spatiotemporal Gait Parameters in Older Adults with Neurological Disorders: Systematic Review and Meta-Analysis of Randomized Controlled Trials." International Journal of Environmental Research and Public Health 19, no. 5 (February 28, 2022): 2824. http://dx.doi.org/10.3390/ijerph19052824.
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Objective: Treadmill interventions have been shown to promote ‘normal’ walking patterns, as they facilitate the proper movement and timing of the lower limbs. However, prior reviews have not examined which intervention provides the most effective treatment of specific gait impairments in neurological populations. The objective of this systematic review was to review and quantify the changes in gait after treadmill interventions in adults with neurological disorders. Data Sources: A keyword search was performed in four databases: PubMed, CINAHL, Scopus, and Web of Science (January 2000–December 2021). We performed the search algorithm including all possible combinations of keywords. Full-text articles were examined further using forward/backward search methods. Study Selection: Studies were thoroughly screened using the following inclusion criteria: study design: Randomized Controlled Trial (RCT); adults ≥55 years old with a neurological disorder; treadmill intervention; spatiotemporal gait characteristics; and language: English. Data Extraction: A standardized data extraction form was used to collect the following methodological outcome variables from each of the included studies: author, year, population, age, sample size, and spatiotemporal gait parameters including stride length, stride time, step length, step width, step time, stance time, swing time, single support time, double support time, or cadence. Data Synthesis: We found a total of 32 studies to be included in our systematic review through keyword search, out of which 19 studies included adults with stroke and 13 studies included adults with PD. We included 22 out of 32 studies in our meta-analysis that examined gait in adults with neurological disorders, which only yielded studies including Parkinson’s disease (PD) and stroke patients. A meta-analysis was performed among trials presenting with similar characteristics, including study population and outcome measure. If heterogeneity was >50% (denoted by I2), random plot analysis was used, otherwise, a fixed plot analysis was performed. All analyses used effect sizes and standard errors and a p < 0.05 threshold was considered statistically significant (denoted by *). Overall, the effect of treadmill intervention on cadence (z = 6.24 *, I2 = 11.5%) and step length (z = 2.25 *, I2 = 74.3%) in adults with stroke was significant. We also found a significant effect of treadmill intervention on paretic step length (z = 2.34 *, I2 = 0%) and stride length (z = 6.09 *, I2 = 45.5%). For the active control group, including adults with PD, we found that overground physical therapy training had the largest effect on step width (z = −3.75 *, I2 = 0%). Additionally, for PD adults in treadmill intervention studies, we found the largest significant effect was on step length (z = 2.73 *, I2 = 74.2%) and stride length (z = −2.54 *, I2 = 96.8%). Conclusion: Treadmill intervention with sensory stimulation and body weight support treadmill training were shown to have the largest effect on step length in adults with PD and stroke.
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Matsumoto, Hideyuki, Tatsurou Inaba, Toshiyuki Kakumoto, Ryoji Miyano, Naohiro Uchio, and Yasuhisa Sakurai. "Progressive Supranuclear Palsy with Wall-Eyed Bilateral Internuclear Ophthalmoplegia Syndrome: Authors’ Second Case." Case Reports in Neurology 11, no. 2 (July 10, 2019): 205–8. http://dx.doi.org/10.1159/000501394.
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Wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome has previously been reported in only 2 patients with progressive supranuclear palsy (PSP). Herein, we report a third case of WEBINO syndrome with PSP. The patient was an 81-year-old man who had experienced gradually increasing gait disturbance and occasional falls since the age of 78 years. At 80 years of age, he presented with cognitive impairment, parkinsonism, and oculomotor abnormalities. The oculomotor abnormalities consisted of vertical gaze palsy and loss of eye convergence. Brain magnetic resonance imaging demonstrated marked atrophy of the midbrain. He was diagnosed with PSP. At the age of 81 years, he presented with alternating extropia in his forward gaze and adduction paresis and outward nystagmus of the abducted eye in his horizontal gaze, both of which were compatible with WEBINO syndrome. Previously, we reported the first case of PSP with WEBINO syndrome, and another group recently reported a second case. In light of the previous cases and the present case, WEBINO syndrome in PSP should not be considered extremely rare. Furthermore, WEBINO syndrome has not been reported in other neurodegenerative disorders, which suggests that it might be a useful and specific diagnostic finding in PSP.
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Nespoli, Luigi, Annapia Verri, Silvia Tajè, Francesco Paolo Pellegrini, and Maddalena Marinoni. "A Precocious Cerebellar Ataxia and Frequent Fever Episodes in a 16-Month-Old Infant Revealing Ataxia-Telangiectasia Syndrome." Case Reports in Immunology 2013 (2013): 1–5. http://dx.doi.org/10.1155/2013/296827.
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Ataxia-telangiectasia (AT) is the most frequent progressive cerebellar ataxia in infancy and childhood. Immunodeficiency which includes both cellular and humoral arms has variable severity. Since the clinical presentation is extremely variable, a high clinical suspicion will allow an early diagnosis. Serum alpha-fetoprotein is elevated in 80–85% of patients and therefore could be used as a screening tool. Here, we present a case of a 5-year-old female infant who was admitted to our department at the age of 16 months because of gait disorders and febrile episodes that had begun at 5 months after the cessation of breastfeeding. Serum alfa-fetoprotein level was elevated. Other investigations showed leukocytopenia with lymphopenia, reduced IgG2and IgA levels, and low titers of specific postimmunization antibodies against tetanus toxoid and Haemophilus B polysaccharide. Peripheral lymphocytes subsets showed reduction of T cells with a marked predominance of T cells with a memory phenotype and a corresponding reduction of naïve T cells; NK cells were very increased (41%) with normal activity. The characterization of the ATM gene mutations revealed 2 specific mutations (c.5692C > T/c.7630-2A > C) compatible with AT diagnosis. It was concluded that AT syndrome should be considered in children with precocious signs of cerebellar ataxia and recurrent fever episodes.
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Istarini, Attiya, Yuliarni Syafrita, and Restu Susanti. "FAKTOR-FAKTOR YANG MEMPENGARUHI SUBTIPE GEJALA MOTORIK PENYAKIT PARKINSON." Human Care Journal 5, no. 1 (May 16, 2020): 343. http://dx.doi.org/10.32883/hcj.v5i1.649.
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<p><strong><em>Background</em></strong><em>: Parkinson's disease (PD) is a chronic neurodegenerative disease that manifests as movement disorders. Based on motor symptoms, PD is classified into subtypes of tremor and postural instability gait disorders (PIGD). The motor symptoms subtype is a predictor of disease progression, therapeutic response, and quality of life for Parkinson's patients. The purpose of this study is to identify some factors that influence motor symptoms in Parkinson's disease.</em><strong><em>Methods:</em></strong><em> This research use cross sectional design. Samples were selected by consecutive sampling method that met the inclusion and exclusion criteria. Research subjects were 58 people. Statistical analysis using SPSS. p values <0.05 were considered statistically significant.</em><strong><em>Results:</em></strong><em> This research include 58 patients, 55.2% were men with range of age 63.5 ± 8.5 years old. The mean age at onset was 57.9 ± 9.5 years and duration of disease 6.1 ± 4.6 years. Motor symptoms 53.4% dominant tremor. There was a significant relationship between disease stage and motor symptom subtypes (p <0.001). There is no relationship between the patient's age, age at onset and duration of the disease with motor symptom subtypes.</em><strong><em>Conclusions:</em></strong><em> There is a relationship between disease stage and motor symptom. The patient's age, age at onset and duration of the disease are not related to the motor symptoms of Parkinson's patients.</em></p>
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Alghamdi, Anas A., Maswood M. Ahmad, and Mussa H. Almalki. "Slipped Capital Femoral Epiphysis and Primary Hyperparathyroidism: A Case Report." Clinical Medicine Insights: Endocrinology and Diabetes 9 (January 2016): CMED.S40895. http://dx.doi.org/10.4137/cmed.s40895.
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The aim of reporting this case is to highlight the association of two disorders, primary hyperparathyroidism (PHPT) and slipped capital femoral epiphysis (SCFE). They are usually seen in two different age groups and rarely together. PHPT is a rare cause of SCFE and only 10 cases have been reported in the literature worldwide. The patient in our report is a 13-year-old girl who presented to our clinic with bilateral knee pain and a waddling gait. Subsequent investigations showed that she had PHPT and SCFE with low bone mass. On admission, a parathyroidectomy was performed; then, the slipped femoral epiphyses were fixed with satisfactory results. A systematic algorithmic approach that was illustrated in a previously published case was used. Such cases should be managed with a systematic approach based on the patient's clinical status to prevent future morbidity. A literature review was conducted by performing a Medline search of all reported cases of PHPT and SCFEs.
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Geraskina, Lyudmila A., Amina A. Galaeva, Rabiyat D. Sheikhova, Andrey V. Fonyakin, and Marina Yu Maksimova. "Risk factors for falls in different age groups of patients with chronic cerebral ischaemia." Annals of Clinical and Experimental Neurology 16, no. 3 (October 10, 2022): 5–14. http://dx.doi.org/10.54101/acen.2022.3.1.
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Introduction. Cognitive impairment, gait and balance disorders are the most important risk factors for falls in older persons. These neurological impairments are the main clinical manifestations of chronic cerebral ischaemia (CCI), and can develop at a younger age.
Aim: to evaluate the risk factors for falls in patients with CCI in different age groups and to identify the most significant predictors of falls.
Materials and methods. We examined 104 patients with CCI. Patients were divided into three age groups: middle age (4059 years old; n = 13), older age (6074 years old; n = 62), and the elderly (75 years and older; n = 29). We assessed the frequency of falls and the presence of risk factors.
Results. Thirty-seven (36%) patients had a history of falls, with its incidence increasing from 8% in the middle-aged group to 37% in the older persons and 45% in the elderly. Some patients had multiple risk factors for falls, while the presence of 5 risk factors increased the risk of falling fourfold. The most common factors in middle age were pain due to degenerative spine conditions (85%), anxiety (54%), and visual impairment (31%); in older age back pain (77%), cognitive impairment (45%), visual impairment (39%), and decreased walking speed (23%); in the elderly visual impairment (76%), cognitive impairment (69%), back pain (69%), decreased walking speed (38%), and orthostatic hypotension (28%). Discriminant analysis revealed that the best predictors of falls in CCI were female sex, age over 69 years, depression, cognitive impairment, and a walking speed below 1 m/sec.
Conclusion. Falls were observed in all age groups of people with CCI. Not only the presence of a specific risk factor for falls, but the presence of multiple risk factors, has predictive value. The presence of five or more risk factors, as well as a walking speed below 1 m/sec, can indicate a high risk of falls.
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Alshimemeri, S., G. Walker, M. Mezei, S. Warner, L. Viana, and JJ Barton. "Cryptococcoma in Idiopathic CD4 Lymphopenia." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 42, S1 (May 2015): S29. http://dx.doi.org/10.1017/cjn.2015.140.
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Idiopathic CD4 lymphopenia is a rare immune disorder that renders patients vulnerable to unusual infections. A 25-year-old female had been diagnosed with idiopathic CD4 lymphopenia (CD4 count of 50/uL) at age 14 after pulmonary infection with atypical mycobacterium, but had since been asymptomatic on Trimethoprim/Sulfamethoxazole prophylaxis. She presented now with 5 weeks of headache, vomiting, diplopia, and vertigo. This had been diagnosed as benign positional vertigo. However, neuro-ophthalmologic exam revealed gaze-evoked nystagmus, impaired smooth pursuit, a left hypertropic skew deviation, left sensorineural hearing loss, gait ataxia and left limb dysmetria. MRI brain showed a 15 mm extra-axial enhancing mass at the left cerebellopontine angle, and chest CT showed pulmonary lesions. CSF Cryptococcal antigen was highly positive (> 1:1024) and CSF culture grew Cryptococcus neoformans variety grubii. She was treated with amphotericin B 175 mg daily and 5-Flucytosine 1000 mg QID for 4 weeks, followed by Fluconazole 400 mg daily, and made an excellent recovery. Cryptococcal infection usually presents as a meningitis, but can occasionally present as a mass lesion. Cryptococcal infection is one of the most common complications in idiopathic CD4 lymphopenia. This case illustrates the importance of neurologic signs in correctly localizing the lesion and the need for high suspicion of serious pathology in patients with rare immune disorders.
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Kwon, Kyum-Yil, Sung Hoon Kang, Minjik Kim, Hye Mi Lee, Ji Wan Jang, Ju Yeon Kim, Seon-Min Lee, and Seong-Beom Koh. "Nonmotor Symptoms and Cognitive Decline in de novo Parkinson’s Disease." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 41, no. 5 (September 2014): 597–602. http://dx.doi.org/10.1017/cjn.2014.3.
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AbstractBackgroundCognitive impairments are common in Parkinson’s disease (PD). Despite its clinical importance, the development of dementia is still difficult to predict. In this study, we investigated the possible associations between non-motor symptoms and the risk of developing dementia within a 2-year observation period in PD.MethodsA total of 80 patients with PD participated in this study. Nonmotor symptoms (the Nonmotor Symptoms Questionnaire), PD status (Unified Parkinson’s Disease Rating Scale), depression (Geriatric d Depression Scale or Montgomery-Asberg Depression Scale), stereopsis and severity of nonmotor symptoms (Non-motor symptoms scale) were assessed. Global cognitive function (Mini-Mental State Examination) were evaluated at baseline and 2 years later.ResultsPresence of depression, vivid dreaming, REM sleep behavior disorders, hyposmia, abnormal stereopsis, non-smoking and postural instability/ gait disturbance phenotype were associated with a significantly more rapid decline of Mini-Mental State Examination. Logistic regression analyses demonstrated that depression (odds ratio=13.895), abnormal stereopsis (odds ratio=10.729), vivid dreaming (odds ratio=4.16), REM sleep behavior disorders (odds ratio=5.353) and hyposmia (odds ratio=4.911) were significant independent predictors of dementia risk within 2 years. Postural instability/ gait disturbance phenotype and age >62 years were also independent predictors of dementia risk (odd ratio=38.333, odds ratio=10.625).ConclusionWe suggest that depression, vivid dreaming, REM sleep behavior disorders, hyposmia and abnormal stereopsis are closely associated with cognitive decline, and that presence of these nonmotor symptoms predict the subsequent development of Parkinson’s disease dementia.
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Parihar, Jasmine, Deepti Vibha, Roopa Rajan, Awadh Kishor Pandit, Achal Kumar Srivastava, and Kameshwar Prasad. "Vanishing White Matter Disease Presenting as Dementia and Infertility." Neurology Genetics 8, no. 3 (May 31, 2022): e643. http://dx.doi.org/10.1212/nxg.0000000000000643.
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ObjectivesVanishing white matter (VWM), an inherited leukoencephalopathy affecting the brain and the spinal cord, is most often a childhood-onset progressive disorder, generally presenting with ataxia. The adult-onset VWM is relatively rare with slowly progressive cognitive dysfunction dominating the clinical presentation. We report a case of adult-onset VWM from the Indian subcontinent.MethodsExome sequencing.ResultsA 58-year-old woman with young-onset diabetes and hypertension presented with gradually progressive cognitive decline beginning at age 40 years. She had early and predominant executive dysfunction and emotional lability and late involvement of memory and navigation. In addition to cognitive dysfunction, the patient experienced bladder and bowel incontinence along with a spastic gait. She also had primary infertility and menopause at age 40 years. Two of the patient's sisters had primary infertility; one of them had urine and stool incontinence along with gait disturbance. An MRI examination of the brain showed diffuse, symmetrical T2/fluid-attenuated inversion recovery white matter hyperintensities. On genetic testing, the patient was found to be homozygous for c.687T>G variation in the EIF2B3 gene.DiscussionAdult-onset VWM is rare. Infertility in an adult patient with progressive cognitive decline should raise a suspicion of VWM.
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Vizitiu, Elena, Mihai Constantinescu, and Corina Poraicu. "Aquatic therapy in neuromotor recovery - case study." Balneo and PRM Research Journal 13, Vol.13, no.3 (September 5, 2022): 516. http://dx.doi.org/10.12680/balneo.2022.516.
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Abstract: Worldwide neurological disorders that particularly affect the central nervous system are a major health challenge, leading to deficits accompanied by neuromorphic sequelae with implications for the functional state of the body. Background: Current studies show that hemorrhagic stroke occurs mainly at a young age, often fatal as opposed to ischemic stroke that characterizes old age or an alert lifestyle, both types of strokes can result in motor sequelae and functional (mild, moderate or severe hemiparesis or haemiplegia). The peculiarity of the studied case is the coexistence of multiple comorbidities which require an interdisciplinary team to solve (neurologist, cardiologist, endocrinologist, physiotherapist, psychotherapist, aquatic therapy instructor). The aim of our paper is to demonstrate the efficiency of exercise in the aquatic environment, facilitating the recovery of the functions of the neuro-myo-arthro-kinetic apparatus as well as the cardiovascular and metabolic functions. Results: The main objective is general and muscular relaxation, re-education of external and proprioceptive sensitivity, orthostatic posture and gait reeducation, in conditions of stability and balance. Conclusions: Through the means of aquatic therapy, an attempt is made to obtain the independence of self-care in order to interrelate with the environment, to regain the ADLs, , the family and socio-professional reintegration of the patient. Keywords: study; stroke; recovery; aquatic therapy; patient
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Rudenskaya, G. E., S. S. Nikitin, O. L. Shatokhina, and O. A. Shchagina. "Juvenile amyotrophic lateral sclerosis type 4: case report and review." Neuromuscular Diseases 12, no. 3 (September 21, 2022): 52–58. http://dx.doi.org/10.17650/2222-8721-2022-12-3-52-58.
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Juvenile amyotrophic lateral sclerosis (ALS) presents a group of few rare monogenic disorders with onset from early childhood up to 25 years and much more benign course than “classic” ALS. Autosomal dominant ALS type 4 (ALS4) related to SETX gene is one of them. In spite of characteristic combined involvement of central and peripheral motor neurons, ALS4 clinical diagnostics may be difficult, particularly in atypical and/or non‑familial cases and electroneuromyography underestimation. Massive parallel sequencing permits diagnosing majority of cases and performing genetic counselling in families.Aim of this work: to describe non‑familial ALS4 case detected by whole‑exome sequencing and present a review on poorly known disorder.A 21‑year‑old female patient in a consanguineous family was examined; methods: clinical, genealogical, electroneuromyography, peripheral nerves ultrasound; molecular: panel and whole‑exome sequencing, bioinformatical analysis.The girl is an only child and an only patient in a family of Mountain Jews – first cousins. She had spastic paraparesis since age of independent walking (1.5 y.o.) and early feet deformation, her first diagnosis was cerebral palsy. In 12 years spasticity progressed, walking was lost. After orthopedic surgery in 15 years supported walking restored, at that age leg distal amyotrophy developed with no further progressing. Due to electroneuromyography results polyneuropathy was misdiagnosed. In 21 years repeated electroneuromyography excluded polyneuropathy and detected generalized motor neuron impairment and juvenile ALS was suggested. On neurological examination pronounced spastic paraparesis together with peripheral leg paraparesis without sensory impairment were detected; her supported gait was of mixed spastic and paretic types; there were no fasciculations or fibrillations.Whole‑exome sequencing detected a novel heterozygous missense mutation c.4442A>G (p.Lys1481Arg) in SETX exon 10. Sanger familial sequencing was not possible, but DNA finding matching the phenotype supported ALS4 diagnosis. Juvenile ALS4 (SETX gene) is a relatively benign autosomal dominant disease, imitating in different stages other nervous disorders of early and young age; genealogy is not always informative. Along with typical cases (like our patient) clinical variability exists. Electroneuromyography is the main instrumental tool. Methods of massive parallel sequencing are optimal in DNA testing of juvenile ALS.
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Vaht, Mariliis, Kariina Laas, Evelyn Kiive, Jüri Parik, Toomas Veidebaum, and Jaanus Harro. "A functional neuregulin-1 gene variant and stressful life events: Effect on drug use in a longitudinal population-representative cohort study." Journal of Psychopharmacology 31, no. 1 (July 10, 2016): 54–61. http://dx.doi.org/10.1177/0269881116655979.
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Background: The neuregulin 1 gene is a susceptibility gene for substance dependence. A functional polymorphism (SNP8NRG243177/rs6994992; C/T) in the promoter region of the brain-specific type IV neuregulin-1 gene ( NRG1) has been associated with psychiatric disorders (e.g. schizophrenia and bipolar disorder) that often present higher odds of smoking, alcohol and illicit drug use. This study assessed the association of the NRG1 genotype with drug use and possible interaction with stressful life events (SLEs). Methods: The database of the Estonian Children Personality Behaviour and Health Study (beginning in 1998) was used. Cohorts of children initially 9 years old ( n=583; followed up at 15 and 18 years) and 15 years old ( n=593; followed up at 18 and 25 years) provided self-reports on alcohol, tobacco and illicit substance use and SLEs. Psychiatric assessment based on DSM-IV was carried out on the older birth cohort at age 25 to assess the lifetime presence of substance use disorders. NRG1 rs6994992 was genotyped in all participants by TaqMan® Pre-Designed SNP Genotyping Assay on the Applied Biosystems ViiA™ 7 Real-Time PCR System. The minor (T) allele frequency was 0.37. Results: NRG1 rs6994992 C/C homozygotes, especially those who had experienced more SLEs, were more likely to develop alcohol use disorders by young adulthood, were generally more active consumers of tobacco products, and had more likely used illicit drugs. In T allele carriers, SLEs had a negligible effect on substance use. Conclusions: In humans, NRG1 genotype is associated with substance use, and this relationship is moderated by adverse life events, with a gain-of-function allele being protective.
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Usman, Ahmadu Baba, Pembi Emmanuel, Ovansa Emmanuel Onimisi, Adewale O. Oyinloye, Apollos Nachanuya, Auwal M. Abubakar, and Haruna A. Nggada. "Dilemma in the Management of Duchenne Muscular Dystrophy in a Resource Limited Settings." Journal of Nepal Paediatric Society 38, no. 2 (January 11, 2019): 122–24. http://dx.doi.org/10.3126/jnps.v38i2.19623.
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Duchene muscular dystrophy is an x-linked recessive genetic disorder which present with progressive muscle weakness in children. It is often complicated by child becoming wheelchair bound by age 12. This limitation on the child and lack of cure is a great burden on the child, family and the community. We present a case of an 11-year old boy who presented with a seven years history of progressive limb weakness. Examination revealed hyper-lordosis of the thora-columbar spine, hypertrophied calf muscles, weak lower limbs and waddling gait. Due to financial constraint, only histology was relied on for definitive diagnosis. He was counselled, placed on prednisolone and commenced physiotherapy. This case portrays the challenges associated with the management of a rare disease in resource constraint settings.
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Sinno, Solara, Fadi Najem, Kim Smith Abouchacra, Philippe Perrin, and Georges Dumas. "Normative Values of Saccades and Smooth Pursuit in Children Aged 5 to 17 Years." Journal of the American Academy of Audiology 31, no. 06 (June 2020): 384–92. http://dx.doi.org/10.3766/jaaa.19049.
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Abstract Background Pediatric oculomotor function can be evaluated via videonystagmography. Adult normative data for saccades and smooth pursuit tests cannot be used as a benchmark for pediatric patients because children's peripheral and central systems continue to mature throughout adolescence. Purpose The purpose of this study was to establish normative data for saccade and smooth pursuit tests that can be used clinically in the assessment of vestibular and neurological disorders in children, and to investigate the effect of age and eye movement direction (left/right) on tests parameters. Research Design The present study is prospective cross-sectional study. Study Sample A total of 120 healthy children were recruited and equally distributed according to age and gender to each of the following groups: 5-8, 9-11, 12-14, and 15-17 years old. Participants had to pass a comprehensive otological and neurological assessment prior to inclusion in the study. Each subject underwent saccade and smooth pursuit testing. Data Collection and Analysis Saccade latency, velocity and accuracy/precision, and smooth pursuit gain were analyzed across groups using a two-way repeated measure multivariate analysis of variance (MANOVA). Results Saccadic latency was longer in the youngest group aged 5-8 years old (305 ± 48 msec) in comparison to children aged 9-11 years old (276 ± 22 msec) (P = 0.017), 12-14 years old (252 ± 34 msec) (P = 0.001) adolescents 15-17 years (256 ± 33 msec) (P = 0.001). Age did not affect the results of saccadic velocity and accuracy/precision. Saccade parameters (latency, velocity, accuracy/ precision) were not affected by oculomotor direction (left vs. right). Smooth pursuit gain increased from 0.63 in children aged 5-8 years old to 0.85 in children aged 15-17 years (P = 0.0001). The percentage of gain asymmetry was significantly different in the youngest two groups. Conclusion Saccade latency decreased as age increased. Smooth pursuit gains increased with increased age. Saccade velocity and accuracy/precision did not change significantly from ages 5-8 to 15-17 years of age. These data provide normative values for pediatric oculomotor evaluation and suggest that saccade and pursuit pathways may mature at different rates.
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Si Ahmed, Hakim, Lilia Megherbi, and Smail Daoudi. "Unusual progressive supranuclear palsy: A case report." Journal of Neurology & Stroke 12, no. 1 (February 28, 2022): 18–19. http://dx.doi.org/10.15406/jnsk.2022.12.00491.
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Introduction: Progressive supranuclear palsy (PSP) is a rare brain condition. It is predominantly a sporadic disease that occurs between 45 and 75 years of age, typically after the age of 40. We herein report a presentation of PSP in a 35-year-old male patient. Observation: A 35-year-old man progressively presented gait disturbances with postural instability leading to falls. On examination: Akineto-rigid parkinsonian syndrome (PS), primarily axial, associated with vertical gaze palsy, head backwards tilt and postural instability without tremor. There was a slight frontal syndrome, irritability and dysphagia. The biological assessment (autoimmunity, copper and CSF testing) was correct. Brain MRI of the onset [figure1] did not show mesencephalic atrophy, nor signal abnormalities of overload disorders (Wilson's disease (WD), neuroferritinopathy). The patient underwent a therapeutic test (L-dopa 300 mg/d) over three months, without significant improvement. We then added ropinirole, rivastigmine and paroxetine. Despite the given therapeutics, no remarkable changes were noticed. Discussion: PSP is the most common phenotype of parkinsonism after Parkinson’s disease (PD). Its prevalence estimated to be 5–7 cases /100 000 with peak occurrence at age 63 and no cases recorded before the age of 40. Although neuropathology is the gold standard for diagnosing definite PSP, certain clinical features, such as vertical supranuclear palsy evident in our patient are highly sensitive and specific. It is frequently seen in PSP and has strong relevance. A combination of clinical characteristics with high specificity is used to diagnose probable PSP. Vertical gaze palsy, pseudobulbar palsy, axial rigidity, falls and cognitive dysfunction are PSP’s clinical hallmarks. Our patient clinical presentation strongly suggested probable PSP with Richardson’s syndrome (PSP-RS), which is the commonest PSP presentations. In front of this atypical and sporadic PS, WD was ruled out as well as other differential diagnoses (anti-DPPX encephalitis). A control brain MRI is planned to look for possible midbrain atrophy that may not be found at the disease’s start. The patient clinical features are evocative arguments of the diagnosis, although the onset at the age of 35 is atypical and original. Conclusion: The onset of PSP after the age of 40 is one of the diagnostic requirements so far, however, early presentation should be considered.
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Verdecchia, Daniel Héctor, Agustina Maria Monzón, Valentina Urbina Jaimes, Fernando Rocha Oliveira, Laércio da Silva Paiva, and Tatiana Dias de Carvalho. "Patient-Reported and Performance Outcomes Significantly Improved in Elderly Patients with Vestibular Impairment following Rehabilitation: A Retrospective Study." Journal of Aging Research 2018 (August 26, 2018): 1–8. http://dx.doi.org/10.1155/2018/5093501.
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Objective. To describe the results of a vestibular rehabilitation (VR) program in the timed up and go (TUG), gait speed (GS), and dizziness handicap inventory (DHI) scores for elderly vestibular patients in a developing country.Methods. Descriptive study with retrospective data collected from the clinical records of vestibular patients. The following information was recorded: sex, age, type of vestibular disorder, DHI score, and performance in TUG and GS, before and after participation in a VR program taking place from January 1 to August 30, 2017. The VR program consisted of 10 twice weekly sessions in the clinic and daily exercises at the patient’s home. We used Student’st-test for paired and Wilcoxon’s test according to the data distribution. The level of significance was 5%.Results. Data from 57 patients (49 females; 78 ± 5.8 years old) were used. There were statistically significant differences in TUG (12.52 versus 11.56), GS (0.81 versus 0.90 m/s), DHI total handicap (46 versus 24), physical (14 versus 8), emotional (14 versus 6), and functional (18 versus 12) domains.Conclusion. The functional outcome measures reported, including TUG, gait speed, and DHI, reflect statistically significant improvements in elderly patients after vestibular rehabilitation; the DHI improvements are clinically relevant.
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Li, Cheng-Lin, Mintie Pu, Wenke Wang, Amaresh Chaturbedi, Felicity J. Emerson, and Siu Sylvia Lee. "Region-specific H3K9me3 gain in aged somatic tissues in Caenorhabditis elegans." PLOS Genetics 17, no. 9 (September 10, 2021): e1009432. http://dx.doi.org/10.1371/journal.pgen.1009432.
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Epigenetic alterations occur as organisms age, and lead to chromatin deterioration, loss of transcriptional silencing and genomic instability. Dysregulation of the epigenome has been associated with increased susceptibility to age-related disorders. In this study, we aimed to characterize the age-dependent changes of the epigenome and, in turn, to understand epigenetic processes that drive aging phenotypes. We focused on the aging-associated changes in the repressive histone marks H3K9me3 and H3K27me3 in C. elegans. We observed region-specific gain and loss of both histone marks, but the changes are more evident for H3K9me3. We further found alteration of heterochromatic boundaries in aged somatic tissues. Interestingly, we discovered that the most statistically significant changes reflected H3K9me3-marked regions that are formed during aging, and are absent in developing worms, which we termed “aging-specific repressive regions” (ASRRs). These ASRRs preferentially occur in genic regions that are marked by high levels of H3K9me2 and H3K36me2 in larval stages. Maintenance of high H3K9me2 levels in these regions have been shown to correlate with a longer lifespan. Next, we examined whether the changes in repressive histone marks lead to de-silencing of repetitive DNA elements, as reported for several other organisms. We observed increased expression of active repetitive DNA elements but not global re-activation of silent repeats in old worms, likely due to the distributed nature of repetitive elements in the C. elegans genome. Intriguingly, CELE45, a putative short interspersed nuclear element (SINE), was greatly overexpressed at old age and upon heat stress. SINEs have been suggested to regulate transcription in response to various cellular stresses in mammals. It is likely that CELE45 RNAs also play roles in stress response and aging in C. elegans. Taken together, our study revealed significant and specific age-dependent changes in repressive histone modifications and repetitive elements, providing important insights into aging biology.
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Aich, Satyabrata, Pyari Mohan Pradhan, Jinse Park, and Hee Cheol Kim. "A machine learning approach to distinguish Parkinson’s disease (PD) patient’s with shuffling gait from older adults based on gait signals using 3D motion analysis." International Journal of Engineering & Technology 7, no. 3.29 (August 24, 2018): 153. http://dx.doi.org/10.14419/ijet.v7i3.29.18547.
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In recent times the adverse impact of Parkinson’s disease (PD) getting worse and worse with the increasing rate of old age population through out the world. This disease is the second common neurological disorder and has a tremendous economical and social impact because the cost associated with the healthcare as well as service is extremely high. The diagnosis process of this disease mostly done by closely observing the patient in the clinic as well as using the rating scale. However, this kind of diagnosis is subjective in nature and usually takes long time and assessment of this disease is complicated and cannot replicated in other patients. This kind of diagnosis method is also not suitable for the early detection of the PD. So, with this shortcoming it is necessary to find a suitable method that can automate the process as well as useful in the initial phase of diagnosis of PD. Recently with the invention of motion capture equipment’s and artificial intelligent technique, the feasibility of the objective nature-based diagnosis is getting lot of attention, especially the objective quantification of gait parameters. Shuffling of gait is one of the important characteristics of PD patients and it is usually defined y shorter stride length and low foot clearance. In this study a novel method is proposed to quantify the gait parameters using 3D motion captures and then various feature selection algorithm have used to select the effective features and finally machine learning based techniques were implemented to automate the classification process of two groups composed of PD patients as well as older adults. We have found maximum accuracy of 98.54 %by using support vector machine (SVM) classifier with radial basis function coupled with minimum redundancy and maximum relevance (MRMR) algorithm-based feature set. Our result showed that the proposed method can help the clinicians to distinguish PD patients from the older adults. This method helps to detect the PD at early stage.
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Kitsera, Nataliya, Zoriana Osadchuk, Mariya Dushar, Oleh Hnateiko, Nadiya Helner, Maya Bondarenko, Roman Bahrynovskyi Bahrynovskyi, Olha Dorosh, and Ruslan Kozovyi. "Spectrum of Mutations and Clinical Manifestations of Rett Syndrome in Girls from Western Ukraine." Biomedical and Pharmacology Journal 15, no. 4 (December 20, 2022): 2293–98. http://dx.doi.org/10.13005/bpj/2567.
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Rett syndrome is one of the most common causes of mental retardation in girls. The aim of our work was to study a spectrum of genetic heterogeneity and various clinical manifestations of Rett syndrome in girls Western Ukraine. Materials and methods: there were used clinical, molecular and genetic methods. We observed seven girls with Rett syndrome aged from 6 months to 15 years who were diagnosed and followed-up at the Institute of Hereditary Pathology, National Academy of Medical Sciences of Ukraine, Lviv for three years (2019–2021) and underwent molecular genetic analyses confirmed by next-generation sequencing. Results: In this study, patients with Rett syndrome had individual clinical heterogeneity and age variability due to different mutations. Mental retardation was not observed among siblings in families with Rett syndrome. We identified seven different pathogenic mutations among seven girls, including two deletions and one duplication of the MECP2 gene. Microcephaly was observed in two girls with MECP2 c.880C>T (p.Arg294*) and MECP2 Gain (Entire coding sequence) at birth. The following developmental disabilities were found in five girls: lack of independent sitting, lack of independent gait (regression of development). Among musculoskeletal disorders, there were diagnosed scoliosis, X-shaped deformation of the lower extremities and muscular hypotonia. A two-year-old girl with Rett syndrome, along with other clinical symptoms, had breathing problems - hyperventilation (rapid shallow breathing). Conclusions: in cases with unknown cause of delayed developmental disability and mental retardation the patients should be referred for medical genetic counselling.
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Gonzalez-Alegre, Pedro, and Adel K. Afifi. "Clinical Characteristics of Childhood-Onset (Juvenile) Huntington Disease: Report of 12 Patients and Review of the Literature." Journal of Child Neurology 21, no. 3 (March 2006): 223–29. http://dx.doi.org/10.2310/7010.2006.00055.
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Whereas adult-onset Huntington disease is a well-characterized clinical entity, childhood-onset cases have not received as much attention. In this report, the clinical, demographic, and genetic characteristics in 12 patients with childhood-onset Huntington disease are presented and compared with data in the literature. The patients were divided into two groups based on age at onset of symptoms (< 10 or ≥ 10 years old). The majority of patients had onset of symptoms before 10 years of age and most at or below 5 years of age. The delay in diagnosis was longer in those with earlier onset of symptoms. Inheritance was paternal in all patients with onset beyond 10 years of age. We found a preponderance of male patients in the younger age at onset group and of female patients in the older age at onset group. The most frequent heralding symptom was cognitive decline in the group with earlier onset and oropharyngeal dysfunction in the later-onset group. Seizures occurred only in the younger age at onset group. Chorea was not a presenting sign but developed later in the course of the disease and, with dystonia, was more prevalent in the early age at onset group, whereas rigidity and bradykinesia were more prevalent in the older age at onset group. Patients in both groups developed gait, cognitive, and behavioral disorders at some point during the course of the disease. Furthermore, a slow and steady decline in IQ was observed on serial neuropsychologic testing in patients from both groups. Imaging studies were normal early and most commonly revealed neostriatal atrophy later in the course of the disease. In this report, we describe the characteristics of 12 patients with childhood-onset Huntington disease and review those previously reported, expanding our knowledge about the features of childhood-onset Huntington disease, underlining the differences with patients with adult-onset Huntington disease, and suggesting a differential phenotype within patients with childhood-onset Huntington disease depending on the age at onset. ( J Child Neurol 2006;21:223—229; DOI 10.2310/7010.2006.00055).
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Khanal, Resha, Selin Sendil, Sharad Oli, Binita Bhandari, and Anas Atrash. "Factitious Disorder Masquerading as a Life-Threatening Anaphylaxis." Journal of Investigative Medicine High Impact Case Reports 9 (January 2021): 232470962110062. http://dx.doi.org/10.1177/23247096211006248.
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Factitious disorder is a psychiatric disorder in which sufferers intentionally fabricate physical or psychological symptoms in order to assume the role of the patient, without any obvious gain. We present a case of a 23-year-old female with chronic urticaria who presented with dyspnea, dysphasia, mild generalized erythema, abdominal cramps, and headache. She was tachypneic and hypotensive. This was her third admission with similar symptoms within the last 7 months. Tryptase, complement, anti-SM/RNP, Sjogren, Scl-70, C3, and C4 were negative. Computed tomography–guided bone marrow biopsy showed no mast cells. Flow cytometry did not show any immunophenotypic reaction. Other possible differentials including pregnancy, autoimmune disorders, and infections including hepatitis, thyroid disorder, and age-related malignancies were ruled out. After a thorough review, malingering disorder was ruled out, but we noticed the patient’s intent of assuming a sick role. Later, the patient was diagnosed with major depressive disorder. Factitious anaphylaxis can present with multiple presentations including a life-threatening condition that mimics true anaphylaxis. A better approach would be thorough clinical evaluation and early multidisciplinary involvement. This case highlights the importance of further evidence-based studies in factitious disorder to decrease the disease burden and reduce the health care cost.
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Tarbuck, Andrew F., Daphne Rumball, and Stephen M. Jones. "Additional clinical experience (ACE) modules in psychiatric specialities for general practice registrars." Psychiatric Bulletin 25, no. 11 (November 2001): 449–51. http://dx.doi.org/10.1192/pb.25.11.449.
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As part of training for general practice, approximately 40% of junior doctors will undertake a senior house officer (SHO) post in psychiatry (Ratcliffe et al, 1999). The majority of such posts will be within general adult psychiatry. As a result of this general practitioner (GP) trainees often receive little exposure to old age psychiatry or child and adolescent psychiatry. Similarly, although trainees will inevitably gain some experience of substance misuse associated with mental illness, there is little opportunity to develop skills in addressing primary substance misuse disorders and there is a clear need to develop better skills in the recognition and management of psychiatric comorbidity (Commander et al, 1999).
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Aminova, Olga S., N. N. Tyatenkova, Yu E. Uvarova, and S. V. Yakovlev. "MONITORING HEALTH INDICES IN FEMALES OF DIFFERENT AGE GROUPS." Hygiene and sanitation 98, no. 8 (October 28, 2019): 827–32. http://dx.doi.org/10.18821/0016-9900-2019-98-8-827-832.
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Introduction. Health - is a complex and at the same integral multivariable dynamic state, developing in the process of realization of the genetic potential in a particular social and ecological environment, which permits a person to carry out its biological and social functions. Material and methods Health indices deteriorate with age. In this situation, special attention should be paid to older age groups. However, recent studies prefer to investigate young people. Data about health status of different age groups is not well investigated. Survey of 415 women aged 20 to 59 years residing on Yaroslavl region has been performed. Evaluation of age-related changes in health indices included questionnaire, morphological and functional examination, definition of physical development and adaptative potential according to the calculated indices and reference values. Results. The study examined the dynamics of health indices and established a statistically significant difference in the gain in body weight, blood pressure, total blood cholesterol, decreased lung capacity relative to body mass and adaptive capacity of the cardiovascular system with the age. Analysis of the incidence showed that chronic diseases incidence has increased from 56% in the 20-29 years group to 88% among 50-59 years old persons. Diseases of cardiovascular and musculoskeletal system (48-49%) become predominant pathology with age. Evaluation of lifestyle shows that poor physical activity and sleep disorders were registered in 77% and 32% respectively regardless of age. Eating disorders were registered in 41% patients aged of 20-29 years. Ratio tobacco users decreased from 23% to 10% with age, while the number of cigarettes smoked per day was increased. Сonclusion. The study established the negative dynamics of health indices to be typical for women aged 20-59 years, while the rate of deterioration exceeds the average one in the Russian population. Self-preservation behavior is not predominant in all age groups, it is typical only for 3% of young women and 11-15% of other groups.
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Tion, M. A., S. A. Offiong, and P. C. Njoku. "The Effect of Limestone Deposits as Calcium Source on the Performance of Broiler Chickens." Nigerian Journal of Animal Production 39, no. 1 (January 16, 2021): 112–31. http://dx.doi.org/10.51791/njap.v39i1.2266.
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Four trials (two at the starter phase and two at the finisher phase) were carried out in a study that utilized Anak-180 broiler chickens to evaluate the potentials of six limestone sources (that were procured from Ashaka, Calabar, Jakura, Sokoto, Ukpila and Yandev cement factories) for inclusion in broiler diets as calcium source. The control diet accounted for the seventh dietary treatment. The first chick trial (Trial 1) utilized 525 chicks and the second (Trial 2) utilized 420 chicks from day old to 28 days of age. Dietary treatments in each trial were replicated 3 times such that Trial 1 had 25 chicks per replicate and Trial 2 had 20 chicks. The first finisher trial (Trial 3) utilized 315 chickens with 15 birds per replicate, the second (Trial 4) utilized 252 chickens with 12 birds per replicate from 35 days of age to 56 days. The experimental design was Completely Randomized Design. Measurements were taken for, feed intake, body weight gain, efficiency of feed conversion, leg disorders and mortality rate. Results indicated significant (P<0.05) differences in feed intake and weight gain in trial 1. In trial 2, all performance traits were significantly (P<0.05) different among the diets. Both leg disorders and mortality rate occurred in trial 1 but were mild in trial 2. There were no significant (P>0.05) differences among the limes in the performance traits in trial 3, but trial 4 showed significant (P<0.05) differences among the dietary means for feed intake, and weight gain. Generally, the study showed improved performance traits over suggested bench mark standard in this country. Leg disorders did not affect performance traits adversely; both leg disorders and mortality rate were adjudged to be independent of limestone sources tested. It was concluded that, the limestone sources tested were good calcium sources for broiler diets.
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Belousova, Elena, Vladimir Sukhorukov, Marina Dorofeeva, Lev Shagam, and Dmitrii V. Vlodavetz. "Clinical report: a rare co-occurrence of tuberous sclerosis complex and Rett syndrome in a girl with mental retardation, epilepsy and autism." Journal of Epileptology 25, no. 1-2 (December 1, 2017): 47–51. http://dx.doi.org/10.1515/joepi-2017-0002.
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SummaryIntroduction.There are some genetic disorders with combination of mental retardation, epilepsy and autism in which the abnormal mammalian Target of Rapamycin (m-TOR) signaling is implicated. The most important of them is tuberous sclerosis complex (TSC), but the disturbances of the m-TOR pathway can also be detected in Rett syndrome (RS), Fragile X syndrome and Down syndrome. We describe the rare case of co-occurrence of TSC and RS.Case study.The female child was born at term by normal delivery after a non-complicated pregnancy. Family history was negative for epilepsy and mental retardation. The neonatal period was uneventful and psychomotor development was normal before the child became 1.5 years old. At the age of 18 months the girl developed hand-wringing stereotypes, facial hypotonia, ataxia and gait apraxia. She lost eye-to-eye contact and verbal contact with relatives, and became indifferent to the surrounding environment. When she was 2 years old, focal adversive seizures started which were readily controlled with carbamazepine. Cerebral cortical and subcortical tubers, cerebral white-matter radial migration lines and subependymal nodules on brain MRI together with hypomelanotic macules suggested the presence of TSC. Diagnosis was confirmed at age of 3 years by a heterozygous mutation c.5161-2A>G inTSC2gene on chromosome 16p13. But the rude regression of psychomotor development and speech, autistic features alongside with characteristic hand-wringing stereotypes were unexplained until at age of 4.5 years RS was diagnosed by finding a heterozygous missense mutation in exon 4 of theMECP2gene c.455C>T, resulting in a P152R substitution in the methyl-binding domain of the protein. At age of 5 the patient is not able to walk independently and has no expressive speech, she is autistic, has ataxia, limb rigidity, hyperreflexia, lack of purposeful hand movements, verbal and motor stereotypies.Discussion.The presence of two mutations (one characteristic forTSC2and one – characteristic for RS) significantly worsened the developmental and motor delay and autistic features in our patient. Dysregulation of m-TOR way is well established in TSC and recently described in RS, Down syndrome and Fragile X syndrome.
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Baindurashvili, A. G., I. E. Nikityuk, E. A. Kostomarova, E. L. Kononova, D. B. Barsukov, and V. E. Baskov. "Evaluation of functional results of surgical treatment in children with Legg-Calve-Perthes disease using a portable gait analysis system." Genij Ortopedii 26, no. 4 (December 2020): 508–15. http://dx.doi.org/10.18019/1028-4427-2020-26-4-508-515.
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Introduction Typical consequences of Legg-Calve-Perthes disease (LCPD) in its severe stage are pathological changes in the anatomy of the hip joint which lead to functional disorders of the musculoskeletal system, clinically manifested by limp. Objective To study biomechanical characteristics of walking in children with unilateral Legg-Calve-Perthes disease to determine the functional state of the musculoskeletal system after surgical treatment with the use of various methods. Material and methods Temporal and dynamic parameters of gait were studied in 31 patients with unilateral Legg-Calve-Perthes disease aged from 8 to 13 years old. They were examined two to five years after surgical treatment. In the control group of patients (15 children), varus osteotomy (VO) was performed. In the main group (16 children), triple pelvic osteotomy (TPO) was used. All children were operated in the disease stages II–IV corresponding to the classifications of S.A. Reinberg (1964) and to groups III–IV according to the classification of Catterall (1971). To objectify the study, 18 healthy children of the same age without signs of orthopaedic pathology were examined. Gait biomechanics were studied using the STEDIS complex (Neurosoft LLC, Ivanovo) that includes a set of platformless inert sensors "Neurosens" that record the data on accelerations in three mutually perpendicular planes. The temporal characteristics of the gait cycle and shock loads during walking were recorded. Results After surgical treatment, the biometrics of the support and shock load phases in both groups of children with LCPD did not reach the level of healthy individuals. It indicates preservation of deviations in walking parameters. The least significant asymmetry between the affected and unaffected limb were detected in patients after TPO, compared with patients after VO in whom the asymmetry of temporal parameters in the phase of the forefoot rocker and asymmetry of shock loads in the phases of rocking over the heel and ankle joint were preserved. Conclusion After ТPO operations in patients with LCPD, the gait was closer to the physiological one in comparison with patients after VO who retained a non-optimal motor stereotype. The reasons for such differences in motor activity between the groups of patients lies in the gluteal muscle dysfunction due to high position of the greater trochanter after corrective (varus) femur osteotomy and iatrogenic shortening of the affected limb. Triple pelvic osteotomy lacks these negative effects.
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Thulasi, Venkatraman, Aravindhan Veerapandiyan, Beth A. Pletcher, Chun M. Tong, and Xue Ming. "A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene." Child Neurology Open 4 (January 1, 2017): 2329048X1772561. http://dx.doi.org/10.1177/2329048x17725610.
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Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness, hearing loss, dysphagia, anarthria with bilateral vocal cord paralysis, and ataxic gait. She subsequently developed respiratory failure requiring tracheostomy and worsening dysphagia necessitating a gastrostomy. Following riboflavin supplementation, resolution of facial diplegia and ataxia, improvements in ptosis, and bulbar function including vocalization and respiration were noted. However, her sensorineural hearing loss remained unchanged. Similar to other cases of Brown-Vialetto-Van Laere syndrome, our patient responded favorably to early riboflavin supplementation with significant but not complete neurologic recovery.
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GERRITSEN, J., B. J. TENVOORDE, J. M. DEKKER, P. J. KOSTENSE, L. M. BOUTER, and R. M. HEETHAAR. "Baroreflex sensitivity in the elderly: influence of age, breathing and spectral methods." Clinical Science 99, no. 5 (October 3, 2000): 371–81. http://dx.doi.org/10.1042/cs0990371.
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Baroreflex sensitivity (BRS) has been proposed as a diagnostic parameter for neurological disorders and as a survival-prognosis parameter in diabetic and cardiac patients. Therefore reference values and the reproducibility of BRS were assessed, taking into account the possible influence of age, gender, test conditions and some analysis variants. Healthy subjects (n = 191) were randomly selected from the 50–75-year-old general population (the Hoorn Study). Variations in blood pressure and heart rate were recorded non-invasively during three breathing modes: spontaneous (3 min), slow metronome (1 min; 6 breaths/min = 0.1 Hz) and fast metronome (1 min; 15 breaths/min = 0.25 Hz), all in a supine position. From these recordings, BRS was assessed as the transfer gain between changes in blood pressure and heart period, and as the α coefficient. BRS values ranged from 5.0 to 8.9 ms·mmHg-1. Slow metronome breathing resulted in higher BRS values than fast breathing, while during spontaneous breathing BRS in the low-frequency band was lower than that in the high-frequency band (respiratory origin). BRS values decreased with lower coherence criteria. BRS-α was significantly higher than BRS-gain. While regression analysis showed no gender differences, BRS decreased with age. Therefore age-specific reference values were calculated. The reproducibility of BRS values was in general moderate, with reliability coefficients ranging from 43 to 81% and coefficients of variation ranging from 34 to 59%. In conclusion, this study shows age, breathing mode, frequency and coherence threshold to affect measures of BRS. Therefore these factors should be considered in clinical studies; appropriate reference values are given.
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Turrini, Federica, Giulia Vallarino, Francesca Cisani, Dario Donno, Gabriele Loris Beccaro, Paola Zunin, Raffaella Boggia, Anna Pittaluga, and Massimo Grilli. "Use of an Animal Model to Evaluate Anxiolytic Effects of Dietary Supplementation with Tilia tomentosa Moench Bud Extracts." Nutrients 12, no. 11 (October 29, 2020): 3328. http://dx.doi.org/10.3390/nu12113328.
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Anxiety disorders are common and complex psychiatric syndromes affecting a broad spectrum of patients. On top of that, we know that aging produces an increase in anxiety vulnerability and sedative consumption. Moreover, stress disorders frequently show a clear gender susceptibility. Currently, the approved pharmacological strategies have severe side effects such as hallucinations, addiction, suicide, insomnia, and loss of motor coordination. Dietary integration with supplements represents an intriguing strategy for improving the efficacy and the safety of synthetic anxiolytics. Accordingly, a recent article demonstrated that glyceric bud extracts from Tilia tomentosa Moench (TTBEs) exert effects that are consistent with anxiolytic activity. However, the effects of these compounds in vivo are unknown. To examine this question, we conducted behavioral analysis in mice. A total of 21 days of oral supplements (vehicle and TTBEs) were assessed by Light Dark and Hole Board tests in male and female mice (young, 3 months; old, 24 months). Interestingly, the principal component analysis revealed gender and age-specific behavioral modulations. Moreover, the diet integration with the botanicals did not modify the body weight gain and the daily intake of water. Our results support the use of TTBEs as dietary supplements for anxiolytic purposes and unveil age and gender-dependent responses.
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Diniz, Gulden, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, and Galip Akhan. "GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation." Case Reports in Neurological Medicine 2016 (2016): 1–4. http://dx.doi.org/10.1155/2016/8647645.
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Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age.Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weakness. The older sister presented at 38 years of age with an inability to climb steps, weakness, and a steppage gait. Her younger sister was 36 years old and had similar symptoms. The first symptoms of the disorder were seen when the sisters were 30 and 34 years old, respectively. The muscle biopsy showed primary myopathic features and presence of rimmed vacuoles. DNA analysis demonstrated the presence of previously unknown homozygous mutations [c.2152 G>A (p.A718T)] in the GNE genes.Conclusion. Based on our literature survey, we believe that ours is the first confirmed case of primary GNE myopathy with a novel missense mutation in Turkey. These patients illustrate that the muscle biopsy is still an important method for the differential diagnosis of vacuolar myopathies in that the detection of inclusions is required for the definitive diagnosis.
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Schabas, AJ, and A. Sayao. "P.052 Late-onset adrenoleukodystrophy mimicking primary progressive multiple sclerosis." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 43, S2 (June 2016): S33. http://dx.doi.org/10.1017/cjn.2016.156.
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Background: Adrenoleukodystrophy (ALD) is a peroxisomal disorder that leads to the accumulation of very long chain fatty acids in the body. Younger males typically present with a catastrophic cerebral demyelinating disease, while adult males tend to develop a progressive myelopathy and neuropathy. Methods: Case presentations and literature review. Results:Case1: A 58-year-old male with a three-year history of unsteady gait. His MRI showed multiple T2-hyperintensities most prominently in the posterior corpus collosum (which progressed over time) as well as spinal cord atrophy. Primary progressive multiple sclerosis (PPMS) was suspected. Case 2: The patient’s bother, a 49-year-old, had a ten-year history of difficulty walking. MRI findings included a single large T2 hyper-intensity spanning the anterior aspect of the corpus collosum and an atrophic spinal cord. Given the family history, both brothers were investigated for and diagnosed with ALD. Conclusions: Both cases are of males presenting with a progressive myelopathy in middle age. In the first case, the history, physical exam, and imaging findings were most consistent with PPMS. However, the second case was less typical for MS prompting further investigations. These cases highlight the need to have a broad differential when confronted with atypical cases of MS and reminds the clinician of the phenotypic variability of ADL.
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Gerbis, Natasha, John Parratt, and Christina Liang. "106 Post-traumatic neuromyelitis optica spectrum disorder." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 6 (May 24, 2018): A42.1—A42. http://dx.doi.org/10.1136/jnnp-2018-anzan.105.
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IntroductionNeuromyelitis optica spectrum disorders (NMOSDs) are immune-mediated demyelinating disorders affecting the brain and spinal cord. There are case-series of post-traumatic multiple sclerosis, but only one case-report previously of post-traumatic neuromyelitis optica.CaseA 57 year old man presented to hospital following a fall down two flights of stairs while intoxicated, and was found on CT to have small bi-frontal subdural haematomas, traumatic subarachnoid haemorrhage, bilateral occipital contusions, and non-displaced fractures through the right parietal bone and bilateral petrous temporal bones. While agitated, he developed subacute onset of visual loss and paraplegia at day 22. An MRI spine at day 12 showed only degenerative changes. However a repeat MRI brain and spine at day 26 revealed enhancing longitudinally extensive optic nerve lesions, indicative of optic neuritis and an extensive segment of intramedullary enhancement within the mid to lower thoracic cord, consistent with longitudinally extensive transverse myelitis. A CSF sample revealed raised protein (9.81 g/L), elevated lactate (3.54 mmol/L), 1 red cell, 41 monocytes. CSF oligoclonal bands, aquaporin 4 antibodies, MOG antibodies, anti-neuronal antibodies and ACE were negative. Serum anti-neuronal antibodies, HTLV-1 and 2 serology, ANA, ENA, ACE, MOG and aquaporin 4 antibodies were also negative. Treatment with iv methylprednisolone, plasma exchange and mycophenolate led to recovery of gait at 2 months and ability to drive by 1 year. Patient remains stable at 2 year follow-up.ConclusionWe report a case of bilateral optic neuritis and longitudinally extensive thoracic transverse myelitis following a traumatic brain injury. The presentation was consistent with an NMOSD and the patient responded to immunomodulatory therapy. The hypothesis is that the traumatic brain injury led to a defect in the blood brain barrier, allowing autoantibodies to enter the CNS and incite inflammation.
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Rispens, Judith, Anne Baker, and Iris Duinmeijer. "Word Recognition and Nonword Repetition in Children With Language Disorders: The Effects of Neighborhood Density, Lexical Frequency, and Phonotactic Probability." Journal of Speech, Language, and Hearing Research 58, no. 1 (February 2015): 78–92. http://dx.doi.org/10.1044/2014_jslhr-l-12-0393.
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Purpose The effects of neighborhood density (ND) and lexical frequency on word recognition and the effects of phonotactic probability (PP) on nonword repetition (NWR) were examined to gain insight into processing at the lexical and sublexical levels in typically developing (TD) children and children with developmental language problems. Method Tasks measuring NWR and word recognition were administered to 5 groups of children: 2 groups of TD children (5 and 8 years old), children with specific language impairment (SLI), children with reading impairment (RI), and children with SLI + RI (all 7–8 years old). Results High ND had a negative effect on word recognition in the older TD children and in the children with RI only. There was no ND effect in the younger children or in the children with SLI, who all had lower receptive vocabulary scores than the age-matched TD children and the RI groups. For all groups, NWR items with low PP were more difficult to repeat than items with high PP. This effect was especially pronounced in children with RI. Conclusion Both the stage of vocabulary development and the type of language impairment (SLI or RI) impact the way ND and PP affect word recognition and NWR.
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Chu, Kon, Jin-Whan Cho, Eun-Chol Song, and Beom S. Jeon. "A Patient with Proximal Myotonic Myopathy and Parkinsonism." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 29, no. 2 (May 2002): 188–90. http://dx.doi.org/10.1017/s0317167100121006.
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Abstract:Introduction:There are two case reports of patients who had proximal myotonic myopathy (PROMM) / myotonic dystrophy (DM) Type 1 and parkinsonism. The combination of myotonic myopathy and parkinsonism is so rare that it may appear to be just a coincidence. However, previous neuropathological examinations of patients who had myotonic dystrophy showed that there were intracytoplasmic inclusion bodies in the nigra and striatum, which raises the possibility that myotonic myopathy may be associated with parkinsonism. In this report we describe a patient with PROMM and a clinically definite parkinsonism to highlight this possibility.Case Report:A 65-year-old man developed proximal muscle weakness, myotonia and atrophy around the age of 55 and was diagnosed as having PROMM at the age of 62. Needle electromyography and muscle biopsy supported the diagnosis. A gene study of the DM Type 1 showed a normal CTG repeat length. At age 63, he developed rest tremor, bradykinesia, hypomimia, stooped posture, and gait disturbance. The postural instability worsened rapidly. The tremor and rigidity were much worse in his right side, where myotonia was more severe. Levodopa therapy was only partially effective.Conclusion:This is a case report of a patient with PROMM that shows an association with a rapidly progressive form of parkinsonism. We suggest that this may be a novel form of a neurodegenerative disorder, which we name ‘Parkinsonism- Myotonic Myopathy-Complex’.
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Sekhon, Anupamjeet, Moshe Prero, Kristie Ross, and Sally Ibrahim. "837 Narcolepsy in a toddler." Sleep 44, Supplement_2 (May 1, 2021): A326. http://dx.doi.org/10.1093/sleep/zsab072.834.
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Abstract Introduction Narcolepsy is a central disorder of hypersomnia with a bimodal peak incidence at ages 15 and 35. Onset in early childhood has been reported, but rarely under the age of 5. We present a case of Narcolepsy Type 1 in a 2.5-year-old with dropping spells. Report of case(s) A 2.5-year-old African American healthy male presented with acute onset sudden drops, unsteady gait, and staring spells. These episodes lasted a few seconds, occurred multiple times a day, and were associated with eye fluttering and dysarthric speech. History was notable for increased daytime sleep/sleep attacks, disrupted nocturnal sleep with confusional arousals, nightmares and sleepwalking, weight gain and mood instability with aggressive behavior. No preceding head injury or illness. Physical examination demonstrated frequent atonic episodes with loss of deep tendon reflexes. A clinical suspicion of myoclonic/atonic epilepsy prompted video- electroencephalogram (EEG) which showed frequent bursts of generalized intermittent slowing representative of NREM 1 sleep lasting several seconds. Magnetic resonance imaging of the brain and infectious workup was unremarkable. Cerebrospinal fluid (CSF) Orexin was <50 pg/mL. While 76–98% of patients with narcolepsy type-1 have HLADQB1*06:02, our patient tested negative. Due to lack of MSLT validity at this age, only diagnostic PSG was performed which showed REM without atonia and sleep fragmentation. Prior to sleep onset, cataplexy was observed in the patient while laughing, though EMG tone was relatively preserved during this episode. We had limited treatment options considering lack of FDA approved medications for ages less than 7. A helmet was prescribed to prevent head injury. Methylphenidate 5mg/day improved sleepiness and slightly stabilized mood. For cataplexy, neither Fluoxetine nor Imipramine helped. His mother disapproved further medication trials. Continuing methylphenidate, the family was referred to behavior psychology for support, coping with the diagnosis and behavioral changes. Conclusion This case demonstrates an unusual presentation of Narcolepsy Type 1 in a toddler initially thought to have epilepsy. Video-EEG and low CSF orexin led to the diagnosis. His age, severity of cataplexy, mood changes, and parental concerns made treatment challenging. Furthermore, this case highlights the importance of early recognition of Narcolepsy in young children to provide appropriate treatment during critical developmental stages. Support (if any):
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Taherian, Mehran, Maryam Aghighi, and Melissa Petras. "Opsoclonus Myoclonus Ataxia Syndrome With Anti–Glutamic Acid Decarboxylase Antibody Positive: Response to Plasma Exchange." American Journal of Clinical Pathology 152, Supplement_1 (September 11, 2019): S153. http://dx.doi.org/10.1093/ajcp/aqz131.005.
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Abstract Objectives Opsoclonus myoclonus syndrome (OMS) is a very rare neurological disorder of probably autoimmune origin. Glutamic acid decarboxylase antibody (GAD-Ab) is one of many antibodies that have been associated with OMS. Common treatments include intravenous immunoglobulin (IVIG) and corticosteroids. To our knowledge, this is the fourth case of GAD-Ab-positive OMS reported and the first one responsive to plasma exchange (PLEX). Clinical Presentation The patient is a 77-year-old male who presented with new-onset tremors and gait disorder. He had been diagnosed with OMS and positive GAD-Ab 2 years ago. At the time of diagnosis, his condition was not responsive to IVIG or corticosteroids and seemed to improve following PLEX. He made a near full recovery and was prescribed a low dose of mycophenolate. The patient reported worsening in tremor and gait over the last several days. This was the first time he had signs of clinical relapse since diagnosis. His labs were notable for hyponatremia, elevated glucose, and acute kidney injury. Brain CT showed intracranial atherosclerosis and age-indeterminate generalized cortical atrophy, perhaps due to chronic microangiopathic white matter changes. GAD-Abs assessed on this admission were zero (normal is less than 5), whereas they were 143 before treatment 2 years ago, although no GAD-Ab titer was measured after PLEX. The patient received five sessions of PLEX with overall improvement. Conclusion We reported a rare case of OMS with positive GAD-Ab who responded to PLEX. GAD-Ab may be a predictive marker of patient symptoms and is recommended to be measured in patients with OMS before and after treatment.
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Irfannuddin, Irfannuddin, Nur Rachmat Lubis, and Febian Aji Wicaksono. "Evaluation of CTEV Management in Children's Walking Ability Assessed by "BANGLA" Club Foot Tool Score System." Bioscientia Medicina : Journal of Biomedicine and Translational Research 4, no. 1 (January 1, 2020): 48–57. http://dx.doi.org/10.32539/bsm.v4i1.113.
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Abstract
Congenital talipes equinovarus (CTEV) or clubfoot is a congenital deformity that involves an abnormal position of the calcaneonaviculare complex. "Bangla clubfoot tool score system" is an assessment that indicates the effectiveness of CTEV management. The purpose of this study was to evaluate the management of CTEV on children's ability to walk as assessed by the Bangla clubfoot tool score system.
A cross sectional study was conducted at the Hospital Dr. Mohammad Hoesin Palembang. There were 24 CTEV patients who received CTEV management before the age of 3 years and were not associated with a neurological disorder. A comparison of the average total Bangla clubfoot score tool system was analyzed by assessing parental satisfaction, walking ability and clinical examination.
The majority of CTEV patients were women (58.3%) with and mostly being treated before 1 year old (79.2%). The most types of CTEV were bilateral (70.8%), and most of them performed surgery (66.7%). Assessment with the Bangla clubfoot tool system shows that the level of parental satisfaction is sufficient, gait is good, but physical foot examination is poor (20%). The score is influenced by age at first therapy and compliance using the brace.
Parents must continue to support their children to undergo integrated management after therapy to maintain their walking ability.