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Статті в журналах з теми "Speech Phenotype"
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Carrigg, Bronwyn, Louise Parry, Elise Baker, Lawrence D. Shriberg, and Kirrie J. Ballard. "Cognitive, Linguistic, and Motor Abilities in a Multigenerational Family with Childhood Apraxia of Speech." Archives of Clinical Neuropsychology 31, no. 8 (November 24, 2016): 1006–25. http://dx.doi.org/10.1093/arclin/acw077.
Повний текст джерелаАнотація:
Abstract Objective This study describes the phenotype in a large family with a strong, multigenerational history of severe speech sound disorder (SSD) persisting into adolescence and adulthood in approximately half the cases. Aims were to determine whether a core phenotype, broader than speech, separated persistent from resolved SSD cases; and to ascertain the uniqueness of the phenotype relative to published cases. Method Eleven members of the PM family (9–55 years) were assessed across cognitive, language, literacy, speech, phonological processing, numeracy, and motor domains. Between group comparisons were made using the Mann–WhitneyU-test (p < 0.01). Participant performances were compared to normative data using standardized tests and to the limited published data on persistent SSD phenotypes. Results Significant group differences were evident on multiple speech, language, literacy, phonological processing, and verbal intellect measures without any overlapping scores. Persistent cases performed within the impaired range on multiple measures. Phonological memory impairment and subtle literacy weakness were present in resolved SSD cases. Conclusion A core phenotype distinguished persistent from resolved SSD cases that was characterized by a multiple verbal trait disorder, including Childhood Apraxia of Speech. Several phenotypic differences differentiated the persistent SSD phenotype in the PM family from the few previously reported studies of large families with SSD, including the absence of comorbid dysarthria and marked orofacial apraxia. This study highlights how comprehensive phenotyping can advance the behavioral study of disorders, in addition to forming a solid basis for future genetic and neural studies.
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Zanaboni, Martina Paola, Ludovica Pasca, Barbara Valeria Villa, Antonella Faggio, Serena Grumi, Livio Provenzi, Costanza Varesio, and Valentina De Giorgis. "Characterization of Speech and Language Phenotype in GLUT1DS." Children 8, no. 5 (April 27, 2021): 344. http://dx.doi.org/10.3390/children8050344.
Повний текст джерелаАнотація:
Background: To analyze the oral motor, speech and language phenotype in a sample of pediatric patients with GLUT 1 transporter deficiency syndrome (GLUT1DS). Methods: eight Italian-speaking children with GLUT1DS (aged 4.6–15.4 years) in stable treatment with ketogenic diet from a variable time underwent a specific and standardized speech and language assessment battery. Results: All patients showed deficits with different degrees of impairment in multiple speech and language areas. In particular, orofacial praxis, parallel and total movements were the most impaired in the oromotor domain; in the speech domain patients obtained a poor performance in the diadochokinesis rate and in the repetition of words that resulted as severely deficient in seven out of eight patients; in the language domain the most affected abilities were semantic/phonological fluency and receptive grammar. Conclusions: GLUT1DS is associated to different levels of speech and language impairment, which should guide diagnostic and therapeutic intervention. Larger population data are needed to identify more precisely a speech and language profile in GLUT1DS patients.
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Todorović, Jelena, Dragan Pavlović, Mirna Zelić, and Lana Jerkić. "Cognitive phenotype in neurofibromatosis type 1." Engrami 42, no. 2 (2020): 69–79. http://dx.doi.org/10.5937/engrami41-28271.
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Neurofibromatoses are a set of different genetic disorders that have a common characteristic of the appearance of nervous system tumors. There are three forms of the disease, of which type 1 neurofibromatosis (NF 1) is the most common. NF 1 is an inherited autosomal-dominant disease, with a high rate of new mutations. In addition to the many physical manifestations and complications that occur in persons with NF 1, there are also numerous cognitive difficulties, including lower general intellectual functioning, learning difficulties, but also problems in attention, visual abilities, executive functions, and speech. Attention disorders are up to three times more common in people with NF 1, while learning disabilities are present in more than half of these subjects. Disturbances in the field of visuospatial perception are recognisable even in the preschool period. About 80% of children with NF1 exhibit various speech and language disorders: slow early speech development, slower vocabulary enrichment, syntactic, semantic and phonological speech disorders. Disruption of executive functions will manifest itself in the areas of working memory, organisation, planning / problem solving. This will reflect as the underperformance in academic achievement. Nearly one-third of these persons have emotional and social problems.
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Kirk, Beth, Mira Kharbanda, Mark S. Bateman, David Hunt, Emma-Jane Taylor, Amanda L. Collins, David J. Bunyan, et al. "Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region." Cytogenetic and Genome Research 160, no. 4 (2020): 185–92. http://dx.doi.org/10.1159/000507409.
Повний текст джерелаАнотація:
A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and daughter with the same directly transmitted 12.3-Mb interstitial deletion of 11q21q22.3 (GRCh37: 93,551,765-105,817,723) both had initial feeding difficulties and failure to thrive, speech delay, learning difficulties, and mild dysmorphism. Among 17 patients with overlapping deletions, developmental or speech delay, dysmorphism, hypotonia, intellectual disability or learning difficulties, short stature, and coloboma were each found in 2 or more. These results may provide the basis for a consistent phenotype for this region. Among the 53 deleted and additional breakpoint genes, CNTN5, YAP1, and GRI4 were the most likely candidates. Non-penetrance of haploinsufficient genes and dosage compensation among related genes may account for the normal cognition in the mother and variable phenotypes that can extend into the normal range.
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Boyce, Jessica O., Supriya Raj, Katherine Sanchez, Mary L. Marazita, Angela T. Morgan, and Nicky Kilpatrick. "Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate." Cleft Palate-Craniofacial Journal 56, no. 7 (January 29, 2019): 867–76. http://dx.doi.org/10.1177/1055665618823936.
Повний текст джерелаАнотація:
Objective: Subclinical phenotypes of nonsyndromic cleft lip with or without cleft palate (CL ± P) may be identified from clinically “unaffected” relatives and could be associated with specific cleft-related gene mutations. It has been hypothesized that velopharyngeal insufficiency (VPI) may be a subclinical phenotype of interest in this population, but this has not been explored quantitatively with appropriate control cohorts. The aim of this case–control study was to compare VPI in at-risk clinically unaffected relatives of individuals with nonsyndromic CL ± P with a low-risk matched normative Australian cohort. Participants: Clinically unaffected (ie, with no overt cleft) first-degree relatives of a proband with nonsyndromic CL ± P (n = 189) and noncleft controls (n = 207). Main Outcome Measure(s): Perceptual measures of VPI encompassing resonance, nasal emission, and articulation were evaluated using the Great Ormond Street Speech Assessment. Quantitative measures of VPI were obtained from the Nasometer II using standardized adult and pediatric speech stimuli. Results: Both perceptual and instrumental measures showed no significant difference ( P > .01) between the VPI in unaffected relatives and the noncleft comparison group. Mean nasalance scores for both groups were calculated and reported according to speech stimuli, age, and sex. Conclusions: Results suggest that VPI, measured through speech, is not a significant subclinical phenotype of nonsyndromic CL ± P. Therefore, further familial genetic investigations exploring VPI may not yield meaningful results. Exploration across multiple subclinical phenotypes in larger cohorts may enable researchers to better understand the multifaceted nature of this complex and heterogeneous anomaly.
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Burd, Larry. "Language and Speech in Tourette Syndrome: Phenotype and Phenomenology." Current Developmental Disorders Reports 1, no. 4 (August 27, 2014): 229–35. http://dx.doi.org/10.1007/s40474-014-0027-1.
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Haapanen, Marjut, Kasper Katisko, Tuomo Hänninen, Johanna Krüger, Päivi Hartikainen, Annakaisa Haapasalo, Anne M. Remes, and Eino Solje. "C9orf72 Repeat Expansion Does Not Affect the Phenotype in Primary Progressive Aphasia." Journal of Alzheimer's Disease 78, no. 3 (November 24, 2020): 919–25. http://dx.doi.org/10.3233/jad-200795.
Повний текст джерелаАнотація:
Primary progressive aphasia (PPA) forms the spectrum of language variants of frontotemporal lobar degeneration (FTLD), including three subtypes each consisting of distinctive speech and language features. Repeat expansion in C9orf72 gene is the most common genetic cause of FTLD. However, thus far only little is known about the effects of the C9orf72 repeat expansion on the phenotype of PPA. This retrospective study aimed at determining the differences between the PPA phenotypes of the C9orf72 expansion carriers and non-carriers. Our results demonstrated no significant differences between these groups, indicating that the C9orf72 repeat expansion does not substantially affect the phenotype of PPA.
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Turner, Samantha J., Amy Brown, Marta Arpone, Vicki Anderson, Angela T. Morgan, and Ingrid E. Scheffer. "Dysarthria and broader motor speech deficits in Dravet syndrome." Neurology 88, no. 8 (February 1, 2017): 743–49. http://dx.doi.org/10.1212/wnl.0000000000003635.
Повний текст джерелаАнотація:
Objective:To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A.Methods:Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-28 years) underwent a tailored assessment battery.Results:Speech was characterized by imprecise articulation, abnormal nasal resonance, voice, and pitch, and prosody errors. Half of verbal patients had moderate to severely impaired conversational speech intelligibility. Oral motor impairment, motor planning/programming difficulties, and poor postural control were typical. Nonverbal individuals had intentional communication. Cognitive skills varied markedly, with intellectual functioning ranging from the low average range to severe intellectual disability. Language impairment was congruent with cognition.Conclusions:We describe a distinctive speech, language, and oral motor phenotype in children and adults with DS associated with mutations in SCN1A. Recognizing this phenotype will guide therapeutic intervention in patients with DS.
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Yang, Lili, Xiaoli Shu, Shujiong Mao, Yi Wang, Xiaonan Du, and Chaochun Zou. "Genotype–Phenotype Correlations in Angelman Syndrome." Genes 12, no. 7 (June 28, 2021): 987. http://dx.doi.org/10.3390/genes12070987.
Повний текст джерелаАнотація:
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the chromosome 15q11–13 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy, and distinct behavioral profile. There are four molecular mechanisms of etiology: maternal deletion of chromosome 15q11–q13, paternal uniparental disomy of chromosome 15q11–q13, imprinting defects, and maternally inherited UBE3A mutations. Different genetic types may show different phenotypes in performance, seizure, behavior, sleep, and other aspects. AS caused by maternal deletion of 15q11–13 appears to have worse development, cognitive skills, albinism, ataxia, and more autistic features than those of other genotypes. Children with a UBE3A mutation have less severe phenotypes and a nearly normal development quotient. In this review, we proposed to review genotype–phenotype correlations based on different genotypes. Understanding the pathophysiology of the different genotypes and the genotype–phenotype correlations will offer an opportunity for individualized treatment and genetic counseling. Genotype–phenotype correlations based on larger data should be carried out for identifying new treatment modalities.
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Efthymiou, Stephanie, Vincenzo Salpietro, Conceicao Bettencourt, and Henry Houlden. "Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A." Journal of Pediatric Genetics 07, no. 03 (June 14, 2018): 114–16. http://dx.doi.org/10.1055/s-0038-1651526.
Повний текст джерелаАнотація:
AbstractMutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype–phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses.
Дисертації з теми "Speech Phenotype"
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Coreno, Alyssa. "Clinical Phenotype of Cognitive-Communication Post-Concussion for High School Students." Case Western Reserve University School of Graduate Studies / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=case1593634440956029.
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Graves, Tracey A. "Etiologies of specific language impairment." Columbus, Ohio : Ohio State University, 2003. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1061396940.
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Thesis (Ph. D.)--Ohio State University, 2003.Title from first page of PDF file. Document formatted into pages; contains xi, 122 p.; also includes graphics (some col.). Includes abstract and vita. Advisor: Robert A. Fox, Dept. of Speech and Hearing Science. Includes bibliographical references (p. 116-122).
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Frassineti, Lorenzo. "Development of multimodal systems for monitoring paediatric brain disorders." Doctoral thesis, Università di Siena, 2023. https://hdl.handle.net/11365/1227514.
Повний текст джерелаАнотація:
In the last years, artificial intelligence (AI) methods are extensively applied in several fields, including healthcare, with several applications to support diagnostic approaches or treatments. The research activities carried on during my PhD work have been devoted to the development of AI methods to support neonatologists and paediatric neurologists in the detection, characterization, and monitoring of brain disorders in paediatric subjects. Specifically, the PhD work was focused on the development of multimodal systems for: neonatal and absence seizure detection; quantitative characterization of the speech phenotype for some genetic syndromes; prediction of the neurodevelopmental scales in newborns with sepsis.
In the first part of this PhD work, absence seizure detectors have been developed both for online and offline applications based on Electroencephalographic (EEG) signals and sonification algorithms. Following the encouraging results obtained for absence seizures, first attempts were made to validate EEG-based Neonatal Seizure Detectors (NSDs), a still tricky and time-consuming issue in the clinical practice. Moreover, Heart rate variability (HRV) analysis was proposed as an alternative approach for the detection of neonatal seizures. Experimental results confirmed the involvement of the Autonomic Nervous System during or close to neonatal seizures. The comparison between EEG-based NSDs and HRV ones confirmed that the best approach to detect neonatal seizures is still the EEG. However, when EEG techniques are not available, the use of HRV-based NSDs could be a promising alternative.
In the second part of this PhD work, quantitative acoustical analysis has been applied to the definition of the speech phenotype for four genetic syndromes: Down, Noonan, Costello and Smith-Magenis. Preliminary results confirm that acoustical measures could add helpful information for several syndromes with well-known language/voice impairments. Being completely non-invasive, acoustical analysis and AI methods might significantly contribute to the clinical assessment of such pathologies, also after surgical, pharmacological or logopaedic treatments and for long-term monitoring of the acoustical characteristics of the voice of these subjects.
The last part of this PhD thesis exploits the possibility of forecasting neurodevelopmental scores in preterm newborns with and without sepsis. Using AI regression models, reliable results at different time steps of the follow-up were obtained, both with EEG and HRV features. The BAYLEY-III test was used to compute the scores in three different domains: cognitive, language and motor. Results suggest that both EEG and HRV quantitative analysis could be helpful for the clinical staff, identifying the newborns at risk of neurodevelopmental delays.
Summing up, this PhD thesis shows how AI methods could be a valid support to clinicians in neurological paediatrics. Several experimental results are presented, showing possible applications and factual integration between AI techniques and clinical knowledge and needs, providing novel solutions and tools to support the clinical staff in the detection and characterization of brain diseases in infants and children.
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Mendes, Silvia Carolina Teixeira. "Caracterização de aspectos da fala e da linguagem oral em pais de autistas." Faculdade de Medicina de São José do Rio Preto, 2008. http://bdtd.famerp.br/handle/tede/86.
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Previous issue date: 2008-12-05Autism is a neuropsychiatric disorder that develops during early childhood and is part of a group of psychiatric conditions denominated Pervasive Developmental Disorders (PDD). Diagnosis is clinical, mainly based on the presence of social interaction disorders, restricted interests, stereotyped behavior and communication disorders. Communication is an important aspect of the disease as it is invariably present in autism. Psychiatric alterations of speech and language are commoner in autistic families, thus suggesting a broad phenotype and possible genetic anticipation in autism. This study aimed at analyzing the oral language and the speech of parents of autistic and control individuals and to correlate the results to a possible broad phenotype and genetic anticipation in autism. Eighteen couples, mothers and fathers, of autistic patients were investigated. A control group was composed of nine men and nine women, paired by age and education. The participants were submitted to a clinical evaluation of speech and language and to the Test of Language Competence (TLC-E). The results showed a poorer performance by the parents of autistic patients when compared to the controls in respect to language but not to speech. The presence of alterations in oral language in couples with autistic children supports the hypothesis of a broad phenotype of this disease and of the existence of genetic anticipation in autism.
O autismo é um transtorno neuropsiquiátrico que se desenvolve na infância precoce e é parte de um grupo de condições psiquiátricas denominado Transtornos Invasivos do Desenvolvimento TID (Pervasive Developmental Disorders PDD). O diagnóstico é clínico e baseado principalmente na presença de distúrbios de interação social, interesses restritos, padrões estereotipados do comportamento e distúrbios de comunicação. A comunicação é um aspecto importante da doença por estar invariavelmente alterada no autista. Alterações psiquiátricas, de fala e linguagem são mais freqüentes em familiares de autistas, o que sugere o fenótipo broad e possível antecipação genética no autismo. Este estudo teve como objetivos analisar a linguagem oral e a fala em pais de autistas e em controles, e de relacionar os resultados obtidos à possibilidade do fenótipo broad e de antecipação genética em autismo. Foram investigados 18 casais, mães pais de autistas (Grupo I). O grupo controle foi composto de nove homens e nove mulheres, pareados por sexo, idade e escolaridade. Os grupos foram submetidos a avaliação clínica da fala e da linguagem e ao teste de competência de linguagem (TLC-E). Os resultados mostraram um pior desempenho dos pais de autistas em relação a seus controles quanto a aspectos da linguagem e não da fala. A presença de alterações de linguagem oral em casais com filho autista reforçam a hipótese do fenótipo broad desta doença e da existência de antecipação genética em autismo.
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Warner, Daniel Augustus. "Phenotypes and Survival of Hatchling Lizards." Thesis, Virginia Tech, 2001. http://hdl.handle.net/10919/31023.
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The phenotypes of hatchling reptiles are influenced by the environmental conditions that embryos experience during incubation, by yolk invested into the egg, and by the genetic contributions of the parents. Phenotypic traits are influenced by these factors in ways that potentially affect the fitness of hatchlings. The physical conditions that embryos experience within the nest affects development, hatching success, and hatchling phenotypes. Thus, the nest site that a female selects can influence the survival of her offspring as well as her overall fitness. In Chapter 1, I addressed this issue through a nest site selection experiment designed to determine the substrate temperature and moisture conditions that female eastern fence lizards (Sceloporus undulatus) select when provided a range of conditions from which to choose. In general, I found that females selected nest sites with conditions that yield high hatching success.
In Chapter two, I investigated the relative contributions of incubation moisture conditions, maternal yolk investment, and clutch (genotype) to variation in hatchling phenotypes and survival under field conditions. Eggs from 28 clutches were distributed among two moisture treatments; wet (-150 kPa) and dry (-530 kPa). In another treatment, yolk was removed from eggs to determine the affect of yolk quantity on hatchling phenotypes. After hatching, several phenotypic traits (mass, snout-vent length, tail length, body shape, thermal preference, running speed, desiccation rate, and growth rate) were measured. Hatchlings were subsequently marked and released at a field site in southwest Virginia. Hatchlings were recaptured twice weekly prior to winter and the following spring to monitor growth and survival. I found that incubation moisture and yolk removal affected only hatchling body size; individuals from the dry and yolk removed treatments were smaller in body size than those from the wet treatment. However, clutch was the most important source of phenotypic variation; all phenotypes were affected by clutch. Significant clutch effects suggested the possibility that phenotypic variation had at least some genetic basis. In the field, survival was not affected by incubation moisture and yolk removal, and overall survival was not associated with hatchling body size. Survivors and nonsurvivors differed only in growth rate in the field and running speed measured in the laboratory. Survivors ran faster and grew more slowly than nonsurvivors. To examine the association of clutch with survival, I used clutch mean values to look at the relationship between phenotype and survival. Clutches that produced relatively slow growing individuals and fast runners had higher survival rates than clutches that produced relatively rapid growing individuals and slow runners. In order to grow rapidly, an individual must eat more than slowly growing individuals. Thus, rapid growth rate may increase risk of predation through its association with foraging activity. Individuals that run fast should be capable of capturing prey and evading predators more effectively than individuals that run slowly. Overall, these results emphasize the importance of clutch to variation in phenotypes and survival in hatchling Sceloporus undulatus.Master of Science
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Lehm, Manuel [Verfasser], and Martin [Akademischer Betreuer] Dichgans. "From phenotype to function via mass spec-based proteomics : an LC-MS/MS DNA-protein pulldown approach applied to functional stroke genetics / Manuel Lehm ; Betreuer: Martin Dichgans." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2019. http://d-nb.info/1202011497/34.
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Weiss, Linda C. [Verfasser], Ralph [Akademischer Betreuer] Tollrian, and Klaus-Peter [Akademischer Betreuer] Hoffmann. "Cellular and neuronal mechanisms of phenotypic plasticity in \(\it Daphnia\) spec. / Linda C. Weiss. Gutachter: Ralph Tollrian ; Klaus-Peter Hoffmann." Bochum : Ruhr-Universität Bochum, 2016. http://d-nb.info/1095884840/34.
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Lopes, Susana Isabel Gomes. "Fragilidade e pré-fragilidade em pessoas idosas residentes na comunidade." Master's thesis, 2014. http://hdl.handle.net/10362/14224.
Повний текст джерелаАнотація:
RESUMO: Objectivo: Este estudo tem como principal objectivo determinar perfis de fragilidade em pessoas idosas, residentes ma comunidade. Metodologia: Trata-se de um estudo de natureza não experimental, quantitativo, exploratório e descritivo, com uma amostra de conveniência, constituída por pessoas idosas (n=47), residentes na comunidade. As variáveis em análise foram o fenótipo de fragilidade, onde a força de preensão foi avaliada através de um dinamómetro portátil, a percepção de exaustão através da CES-D, a velocidade de marcha foi avaliada pelo Timed Up and Go Test, a actividade física através de uma escala simplificada, com base nos estudos de Grimby, e a perda de peso não intencional através de uma questão sobre perda de peso no último ano. As restantes variáveis foram avaliadas por questionário, à excepção da capacidade funcional, avaliada por uma escala com actividades básicas e instrumentais da vida diária assim como locomoção, e da força de membros inferiores, avaliada pelo teste de sentar e levantar da cadeira durante 30 segundos. Resultados: Verificou-se que a maioria da amostra era pré-frágil, com uma frequência próxima de fragilidade e uma quase inexistência de não fragilidade. Contribui para isto, essencialmente, a velocidade de marcha e perda de peso não intencional. Apesar de se encontrar uma grande presença de comorbilidade e independência com limitação nos indivíduos deste estudo, não se verifica uma relação de significância entre estas variáveis. Verificam-se relações significativas com a Hipertensão arterial e a percepção do estado de saúde. Conclusão: Não foi possível definir um perfil de fragilidade de forma consistente, devido à grande variabilidade de resultados encontrados e à não existência de correlações significativas, no que diz respeito à síndrome de fragilidade. -----------ABSTRACT: Objective: This study aims to determine profiles of fragility in elderly people, living in the community Methodology: This is a study of a non experimental, quantitative, exploratory and descriptive, with a convenience sample, consisting of elderly (n = 47), living in the community. The variables analyzed were the frailty phenotype where grip strength was measured using a handheld dynamometer, the perception of exhaustion through the CES-D, gait speed was assessed by the Timed Up and Go Test, physical activity through a simplified scale based on studies of Grimby and unintentional loss of weight through a question about weight loss in the last year.The remaining variables were assessed by questionnaire, with the exception of functional capacity assessed by a scale with basic and instrumental activities of daily living as well as locomotion, and lower limb strength, evaluated by sitting and rising from a chair for 30-second test. Results: It was found that most of the sample was pre-fragile with a frequency close to the fragility and almost no non-brittleness. Contribute to this, essentially, gait speed and unintentional weight loss. Despite being a large presence of comorbidity and independence in individuals with limitation of this study, no there is a significant relationship between this variables. There are significant relations with hypertension and the perception of health status. Conclusion: It was not possible to define a profile of fragility consistently, due to the great variability of results and the absence of significant correlations, with respect to the frailty syndrome.
Книги з теми "Speech Phenotype"
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Computational Phenotypes Towards An Evolutionary Developmental Biolinguistics. Oxford University Press, USA, 2013.
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Computational Phenotypes. Oxford University Press, USA, 2013.
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Rosen, Glenn D. Dyslexic Brain: New Pathways in Neuroscience Discovery. Taylor & Francis Group, 2013.
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Rosen, Glenn D. Dyslexic Brain: New Pathways in Neuroscience Discovery. Taylor & Francis Group, 2013.
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Rosen, Glenn D. Dyslexic Brain: New Pathways in Neuroscience Discovery. Taylor & Francis Group, 2013.
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Rosen, Glenn D. Dyslexic Brain: New Pathways in Neuroscience Discovery. Taylor & Francis Group, 2014.
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Morava, Eva, and Mirian C. H. Janssen. Congenital Disorders of Glycosylation. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0063.
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Congenital disorders of glycosylation (CDGs) are usually diagnosed during infancy or childhood with severe multisystem disorder and neurologic presentation. With the increasing number of surviving adult patients, recognition of the distinct adult phenotype and awareness of the diagnostic difficulties in adulthood is essential. Patients with O-glycosylation defects or with abnormal dolichol synthesis might present first in adulthood. The majority of cases with adult CDG have a neurologic disease with intellectual disability, ataxia, speech disorder, visual disturbance, and skeletal findings. Psychological abnormalities are also common. Thrombotic complications and endocrine dysfunction might persist to adulthood. MPI-CDG, the only treatable form of CDG, might progress to chronic liver failure. Genetic testing is recommended in suspected cases, since transferrin screening analysis can be normal in adults, even in N-linked glycosylation disorders.
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Willcutt, Erik G. ADHD and reading disorder. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0029.
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This chapter provides an overview of current knowledge regarding the frequency, implications, and aetiology of comorbidity between ADHD and reading disorder (RD), a common childhood disorder that is defined by significant underachievement in reading. Results from community studies indicate that 20–50% of individuals with ADHD also meet criteria for RD, and the presence of comorbid RD is associated with increased functional impairment and less positive long-term outcomes. Family and twin studies indicate that RD and ADHD are both significantly familial and heritable, and multivariate analyses indicate that nearly all of the phenotypic covariance between RD and ADHD is due to shared genetic influences that are associated with slower and more variable cognitive processing speed. Key future directions include studies that incorporate a broader range of measures of reading and more sophisticated neuropsychological and neuroimaging phenotypes, along with studies of the treatment implications of comorbidity between ADHD and RD.
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West-Eberhard, Mary Jane. Developmental Plasticity and Evolution. Oxford University Press, 2003. http://dx.doi.org/10.1093/oso/9780195122343.001.0001.
Повний текст джерелаАнотація:
The first comprehensive synthesis on development and evolution: it applies to all aspects of development, at all levels of organization and in all organisms, taking advantage of modern findings on behavior, genetics, endocrinology, molecular biology, evolutionary theory and phylogenetics to show the connections between developmental mechanisms and evolutionary change. This book solves key problems that have impeded a definitive synthesis in the past. It uses new concepts and specific examples to show how to relate environmentally sensitive development to the genetic theory of adaptive evolution and to explain major patterns of change. In this book development includes not only embryology and the ontogeny of morphology, sometimes portrayed inadequately as governed by "regulatory genes," but also behavioral development and physiological adaptation, where plasticity is mediated by genetically complex mechanisms like hormones and learning. The book shows how the universal qualities of phenotypes--modular organization and plasticity--facilitate both integration and change. Here you will learn why it is wrong to describe organisms as genetically programmed; why environmental induction is likely to be more important in evolution than random mutation; and why it is crucial to consider both selection and developmental mechanism in explanations of adaptive evolution. This book satisfies the need for a truly general book on development, plasticity and evolution that applies to living organisms in all of their life stages and environments. Using an immense compendium of examples on many kinds of organisms, from viruses and bacteria to higher plants and animals, it shows how the phenotype is reorganized during evolution to produce novelties, and how alternative phenotypes occupy a pivotal role as a phase of evolution that fosters diversification and speeds change. The arguments of this book call for a new view of the major themes of evolutionary biology, as shown in chapters on gradualism, homology, environmental induction, speciation, radiation, macroevolution, punctuation, and the maintenance of sex. No other treatment of development and evolution since Darwin's offers such a comprehensive and critical discussion of the relevant issues. Developmental Plasticity and Evolution is designed for biologists interested in the development and evolution of behavior, life-history patterns, ecology, physiology, morphology and speciation. It will also appeal to evolutionary paleontologists, anthropologists, psychologists, and teachers of general biology.
Частини книг з теми "Speech Phenotype"
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Sowa, Anna S., Lisa Dussling, Jörg Hagmann, and Sebastian J. Schultheiss. "The power of next-generation sequencing and machine learning for causal gene finding and prediction of phenotypes." In Mutation breeding, genetic diversity and crop adaptation to climate change, 401–10. Wallingford: CABI, 2021. http://dx.doi.org/10.1079/9781789249095.0041.
Повний текст джерелаАнотація:
Abstract The wide application of next-generation sequencing (NGS) has facilitated and accelerated causal gene finding and breeding in the field of plant sciences. A wide variety of techniques and computational strategies is available that needs to be appropriately tailored to the species, genetic architecture of the trait of interest, breeding system and available resources. Utilizing these NGS methods, the typical computational steps of marker discovery, genetic mapping and identification of causal mutations can be achieved in a single step in a cost- and time-efficient manner. Rather than focusing on a few high-impact genetic variants that explain phenotypes, increased computational power allows modelling of phenotypes based on genome-wide molecular markers, known as genomic selection (GS). Solely based on this genotype information, modern GS approaches can accurately predict breeding values for a given trait (the average effects of alleles over all loci that are anticipated to be transferred from the parent to the progeny) based on a large training population of genotyped and phenotyped individuals (Crossa et al., 2017). Once trained, the model offers great reductions in breeding speed and costs. We advocate for improving conventional GS methods by applying advanced techniques based on machine learning (ML) and outline how this approach can also be used for causal gene finding. Subsequent to genetic causes of agronomically important traits, epigenetic mechanisms such as DNA methylation play a crucial role in shaping phenotypes and can become interesting targets in breeding pipelines. We highlight an ML approach shown to detect functional methylation changes sensitively from NGS data. We give an overview about commonly applied strategies and provide practical considerations in choosing and performing NGS-based gene finding and NGS-assisted breeding.
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Budisteanu, Magdalena, Andreea Tutulan-Cunita, Ina Ofelia Focsa, Sorina Mihaela Papuc, and Aurora Arghir. "First-Tier Array CGH in Clinically Variable Entity Diagnosis: 22q13.3 Deletion Syndrome." In Chromosomal Abnormalities. IntechOpen, 2020. http://dx.doi.org/10.5772/intechopen.89399.
Повний текст джерелаАнотація:
Phelan-McDermid (PMS) or 22q13 deletion syndrome (OMIM 606232) is a rare genetic disorder with highly variable clinical presentation. The phenotype includes generalized neonatal hypotonia, developmental delay with intellectual disability and delayed speech, mild dysmorphic features, and autistic behavior. The genetic defects of PMS consist of 22q13.3 deletions or chromosomal structural rearrangements involving SHANK3 gene; the loss of function mutations of SHANK3 gene was reported in a minority of cases. The 22q13.3 deletions vary in size, from 0.2 to over 9 Mb, and, although larger deletions are generally associated with more severe phenotypes, the genotype-phenotype correlations are not clear-cut for all patients. SHANK3 is considered the main candidate gene for the neurologic features of PMS. PMS is a rare disorder, often underdiagnosed. There are no established clinical diagnostic criteria for PMS. The genetic tests typically used are chromosomal microarray and multiplex ligation-dependent probe amplification (MLPA) or fluorescent in situ hybridization (FISH) for copy number analysis of SHANK3 gene; next-generation sequencing (NGS) or Sanger sequencing is used for pathogenic mutation screening of SHANK3. In this chapter, we report three cases with PMS and summarize the clinical and genetic diagnostic approaches of this condition, highlighting the role of chromosomal microarray technology in the identification of rare, but significantly impacting patient’s life, DNA copy number abnormalities.
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Gravholt, Claus H. "Klinefelter’s Syndrome." In Oxford Textbook of Endocrinology and Diabetes 3e, edited by John A. H. Wass, Wiebke Arlt, and Robert K. Semple, 1549–56. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198870197.003.0485.
Повний текст джерелаАнотація:
Klinefelter syndrome (KS) is a frequent genetic condition caused by the presence of an extra X chromosome with the resultant karyotype being 47,XXY. The condition is in males and results in hypergonadotropic hypogonadism, small testis, and infertility, although recent research has shown that some KS males harbour sparse amounts of spermatocytes that can be retrieved by testicular sperm extraction. Other characteristics include cognitive impairment, dyslexia, tall stature, gynaecomastia, a range of medical conditions, including the metabolic syndrome, type 2 diabetes, hyperlipidaemia, cardiovascular disease, extragonadal germ cell tumours, and breast cancer. Although the estimated prevalence of KS is 150 per 100 000 liveborn males, diagnosis poses several problems. Most KS are only diagnosed during adulthood, and only about 10% are diagnosed during childhood and adolescence. Studies from different countries indicate that only 25–50% of the expected number are ever diagnosed. Mortality and morbidity are high and the socioeconomic status is low. Medical therapy is directed towards hypogonadism and consists of testosterone replacement therapy, although no formal randomized clinical trial has been conducted in KS, and the prevention of lifestyle diseases. Comprehensive multidisciplinary care needs to be in place throughout life in order also to alleviate the neurocognitive problems encountered by many with KS and facilitate extra scholastic help and speech therapy, etc. The genetic background for KS is not thoroughly understood, but recent developments show global epigenetic and RNA expression changes that are likely tied with the phenotype.
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Hooper, Stephen R., and Julie Hammer. "Down Syndrome." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0023.
Повний текст джерелаАнотація:
Down syndrome (DS) is the most common genetic cause of significant intellectual disability in humans. It was one of the first chromosomal disorders of humans to be associated with intellectual disabilities and, as such, has provided an evidence-based foundation from which work on many different disorders has been launched. John Langdon Down first described this syndrome in 1866 using the term mongoloid idiocy. The initial clinical description of DS comprised physical features (e.g., epicanthal folds, flat and broad face, enlarged tongue, microcephaly, short stature) and cognitive characteristics (e.g., intellectual impairment, fine and gross motor coordination problems, poor speech articulation). He also described a relatively positive personality in these individuals. Contemporary topographical descriptions are remarkably similar to Down’s description nearly 150 years ago, but a variety of other healthrelated issues have been uncovered since that time including congenital cardiac abnormalities, hypotonia, hearing and visual impairments, hypothyroidism, and precocious aging (Rasmussen, Whitehead, Collier, and Frias 2008). In accordance with the core tenets of this text, in this chapter we discuss epidemiology, etiology, and what is known about core pathophysiological mechanisms in DS; neurological abnormalities, including contemporary findings in neuroimaging; neurocognitive and socialbehavioral manifestations; and emergent evidencebased treatment efforts. The chapter concludes with a brief discussion of the phenotype-genotype linkages for DS, and a review of the priorities set by a national panel of experts in DS (Rasmussen et al. 2008). When compared to other congenital abnormalities, DS represents one of the most common disorders. Contemporary prevalence estimates indicate the occurrence of DS in approximately 9.0–11.8 (Shin et al. 2009) to 13.66 (Canfield et al. 2006) per 10,000 live births. The rate of infants born with DS also has a strong relationship with increasing maternal age. For example, a 20-year-old mother has a 1 in 1,923 chance of giving birth to an infant with Down syndrome, whereas the chance for a 49-year-old mother is 1 in 12 (Prescott 1988). The cause of this phenomenon, however, is not well understood (Lamb and Hassold 2004).
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J Kurukulaaratchy, Ramesh, and Chellan Eames. "The Multi-Disciplinary Team Approach to Specialist Adult Difficult Asthma Care." In Severe Asthma - Basic and Clinical Views, 45–65. Založba Univerze na Primorskem, 2022. http://dx.doi.org/10.26493/978-961-293-157-5.45-65.
Повний текст джерелаАнотація:
Difficult-to-treat (or difficult) asthma presents a challenging multidimensional model of chronic disease that imposes a significant burden at both individual patient and wider societal levels. Within that model of disease there is increasing understanding of the diverse range of asthma phenotypes that might be encountered. There is also the growing realisation that these do not occur in isolation but exist within a wider multimorbidity disease framework. Identifying these other treatable traits that exist within the setting of difficult asthma has shown capability to improve patient outcomes. In that context, application of structured approaches to patient assessment have shown good efficacy, both at more general as well as specialist care levels. So too have multidisciplinary team approaches to difficult asthma care. The combined roles of the Asthma Specialist Physician, Asthma Nurse Specialist, Asthma Pharmacist, Speech & Language Therapist and Asthma Dietitian in that regard are evolving rapidly. In this chapter we review the multimorbidity model of difficult asthma and how best to approach that via multi-disciplinary team working approaches when undertaking specialist management of adult difficult asthma in clinical practice.
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Feng, Xianzhong, and Muhammad Hafeez Ullah Khan. "Soybean Molecular Design Breeding." In Plant Breeding - New Perspectives [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.105422.
Повний текст джерелаАнотація:
Soybean is a globally important crop being rich source of edible oil and protein. Traditional phenotypic-based breeding procedures have contributed significantly to the development of several improved soybean varieties. In this context, molecular breeding technology, is seen as a viable way to address the issues and providing great opportunities to accelerate the process of soybean breeding. Hence, marker-assisted breeding (MAB) has been greatly applied in the soybean breeding to accelerate the improved soybean cultivars, transgenic breeding technology achieves great success in the soybean production. New genomics approaches and the development of genome editing technologies have increased soybean genetic diversity in its germplasm and have created new possibility to make precise genes modifications to controlling essential agronomic traits in an elite background Besides, the establishment of genotype driven phenotypic design breeding model has become a great challenge for soybean molecular breeding in the future. These approaches have the potential to expand the practical utility of molecular design breeding and speed up the germplasm and breeding materials in soybeans. This chapter goes into great detail about how current advances in genomics and phenomics can increase the efficiency and potential of MAB, transgenic technology, molecular design breeding and gene editing technology in soybean improvement.
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Pali, Erlina, and Mark Powell. "FACS-Based High-Throughput Functional Screening of Genetic Libraries for Drug Target Discovery." In Flow Cytometry for Biotechnology. Oxford University Press, 2005. http://dx.doi.org/10.1093/oso/9780195183146.003.0016.
Повний текст джерелаАнотація:
A primary aim of functional genomics in pharmaceutical applications is to identify genes whose function is critical to maintaining a disease state and to determining whether therapeutic modulation of this function results in a beneficial clinical response. However, although many genomic approaches can identify disease-associated genes, lengthy follow-up studies are usually required to determine which genes are functionally important and are causally linked to a given disease. In contrast, retrovirally mediated functional genetic screening approaches enable rapid identification of physiologically relevant targets. Genetic screens are designed to detect functional changes that result in changes in cellular function that correlate with disease amelioration. Retroviruses possess unique properties that allow delivery of complex libraries of potential genetic effectors to a variety of cell types. These effectors can perturb specific interactions required to achieve a complete functional response and establish a direct relationship with a cellular function. Functional screens are employed to select for cells endowed with a desired genetic effector–induced change in phenotype. Identification of a genetic effector that causes an altered cellular phenotype that correlates with clinical benefit can explicate critical signaling components suitable for therapeutic intervention. Flow cytometry represents a uniquely powerful methodology to monitor complex multiparametric changes of individual cells in large populations. In conjunction with recent advances in retroviral expression systems, the sensitivity and speed of flow cytometry enables a highly efficient functional screening of complex libraries in a wide range of cell-based assays. In this chapter, we discuss the process of functional genetic screening and show specific examples of its implementation. We focus particularly on the critical parameters involved in the design and execution of functional genetic screening approaches based on FACS (fluorescence activated cell sorter). Retroviruses provide a powerful method of introducing genes into mammalian cells in an efficient and stable manner. Recent advances in retroviral vector technology and packaging systems have extended their application to allow efficient and stable delivery of highly diverse libraries encoding various types of genetic effectors, including cDNAs, peptides, and ribozymes, into a broad range of cell types.
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Valencia-Sanchez, Cristina, and Jonathan L. Carter. "Multiple Sclerosis and Cognitive Impairment." In Mayo Clinic Cases in Neuroimmunology, edited by Andrew McKeon, B. Mark Keegan, and W. Oliver Tobin, 39–41. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780197583425.003.0012.
Повний текст джерелаАнотація:
A 60-year-old woman with a history of multiple sclerosis was evaluated for cognitive concerns. At age 30 years she had an episode of optic neuritis, followed by an episode of bilateral lower extremity numbness at age 35 years. In the following years, she had at least 6 further multiple sclerosis relapses, the last one approximately 3 years before the current presentation. She was initially treated with interferon, but she did not tolerate it. She had been taking glatiramer acetate for the past 3 years. She had noticed progressive deterioration of her gait for the past 3 years, having to use a cane on occasions. Magnetic resonance imaging of the brain showed multiple demyelinating lesions), and magnetic resonance imaging of the cervical spine showed 1 small demyelinating lesion at C6. Vitamin B12 level and thyroid function were normal. Comprehensive neuropsychological testing showed multidomain cognitive impairment, mainly impairment of speed of information processing, spatial discrimination skills, and attention/concentration. The patient’s multiple sclerosis phenotype was consistent with secondary progressive multiple sclerosis. Her cognitive impairment profile, mainly affecting information processing speed and disinhibition suggestive of frontal dysfunction, was consistent with multiple sclerosis. The patient began a cognitive rehabilitation program, and learning and memory aids were recommended. Lifestyle changes were also recommended, including weight loss and physical exercise. She was given recommendations for sleep hygiene and began taking gabapentin for neuropathic pain and restless legs. Cognitive impairment is common in patients with multiple sclerosis. Slowed cognitive processing speed and episodic memory decline are the most common cognitive deficits in MS, with additional difficulties in executive function, verbal fluency, and visuospatial analysis.
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Antshel, Kevin M., and Robert Shprintzen. "Velo-cardio-facial Syndrome." In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0030.
Повний текст джерелаАнотація:
Velo-cardio-facial syndrome (VCFS) is caused by an interstitial deletion from chromosome 22 at the 22q11 band. It is the most common microdeletion syndrome yet identified in humans, with a population prevalence of approximately 1 in 2,000 (Robin & Shprintzen, 2005). Velo-cardio-facial syndrome is known by a number of other names based on other reports in the literature that described individual components of the syndrome from a number of different perspectives. These include: DiGeorge syndrome, 22q11.2 deletion syndrome, Sedlačková syndrome, conotruncal anomalies face syndrome, and Cayler syndrome (Robin & Shprintzen, 2005). Structural anomalies affect nearly every part and system of the body and may include congenital heart disease, palatal defects, thymic hypoplasia, and endocrine disorders (Robin & Shprintzen, 2005). Velo-cardio-facial syndrome is the most common genetic cause of conotruncal heart anomalies and the most common genetic cause of cleft palate (Shprintzen et al., 2005) in addition to being the most significant genetic cause of mental illness yet identified. The earliest cases of VCFS to appear in the medical literature were probably those reported by Sedlačková in 1955 (E. Sedlačková, 1955). Sedlačková proposed a mechanism of neurologic and developmental anomalies that caused abnormalities of the palate leading to hypernasal speech and lack of facial animation caused by abnormal neurologic innervation (E. Sedlačková, 1967). The same disorder was described in 1968 by DiGeorge (DiGeorge, 1968) and by Kretschmer (Kretschmer, Say, Brown, & Rosen, 1968) who described endocrine and immunologic disorders associated with congenital heart disease. The 1st person, however, to delineate this disorder as a genetic syndrome was Strong (Strong, 1968), with his description of a single family with an affected mother and 3 affected children. Larger numbers of cases with broader phenotypic descriptions and multiple familial cases with a clear autosomal dominant pattern of inheritance followed (Shprintzen et al., 1978; Shprintzen, Goldberg, Young, & Wolford, 1981; Williams, Shprintzen, & Goldberg, 1985) thereby confirming that VCFS was a genetic syndrome. In the years that followed, the phenotypic spectrum of VCFS was expanded in a small series of papers.
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Gandon, Sylvain. "Evolutionary epidemiology theory of vaccination." In Pertussis, 133–43. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780198811879.003.0008.
Повний текст джерелаАнотація:
The aim of vaccination is to prevent or limit the risk of pathogen infections for individual hosts but large vaccination coverage often has dramatic epidemiological consequences at the scale of the whole host population. This massive perturbation of the ecology and transmission of the pathogen can also have important evolutionary effects. In particular, vaccine-driven evolution may lead to the spread of new pathogen variants that may erode the benefits of vaccination. This chapter presents a theoretical framework for modelling the short- and long-term epidemiological and evolutionary consequences of vaccination. This framework can be used to make quantitative predictions about the speed of such evolutionary processes. This work helps identify the relevant phenotypic traits that need to be measured in specific parasite populations in order to evaluate the potential evolutionary consequences of vaccination. In particular, this may help in the debate regarding the involvement of evolution in the re-emergence of pertussis in spite of the high coverage of vaccination.
Тези доповідей конференцій з теми "Speech Phenotype"
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Irwin, Julia, Trey Avery, Jacqueline Turcios, Lawrence Brancazio, Barbara Cook, and Nicole Landi. "Atypical phonemic discrimination but not audiovisual speech integration in children with autism and the broader autism phenotype." In The 14th International Conference on Auditory-Visual Speech Processing. ISCA: ISCA, 2017. http://dx.doi.org/10.21437/avsp.2017-26.
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Yao, Xiaohui, Jingwen Yan, Shannon Risacher, Jason Moore, Andrew Saykin, and Li Shen. "Network-based genome wide study of hippocampal imaging phenotype in Alzheimer's Disease to identify functional interaction modules." In 2017 IEEE International Conference on Acoustics, Speech and Signal Processing (ICASSP). IEEE, 2017. http://dx.doi.org/10.1109/icassp.2017.7953342.
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Rocha Filho, Juliano Henrique, Beatriz Brasil Braga, Kristine Leão Alarcão, and Maria Teresa Aires Cabral Dias. "Clinical Findings of Type 3 Spinocerebellar Ataxia." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.198.
Повний текст джерелаАнотація:
Background: Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of progressive autosomal disorders of dominant inheritance with a gradual degeneration of the cerebellum and related pathways [1]. This leads to a movement disorder, loss of balance and coordination, accompanied by slurred speech [2]. Among the approximately 40 types of SCA, the spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most clinically heterogeneous [3]. It involves the cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems [2]. Objectives: Understand the clinical findings of SCA3. Methods: The review was based on papers from SciELO and LILACS databases. Articles presented in full, written in English or Portuguese, were researched. Results: SCA3 is a consequence of the ATXN3 gene modification, which generates pathogenic repeated expansions of trinucleotides CAG, leading to polyglutamine coding. The common clinical phenotype includes the presentation of symptoms such as cerebellar ataxia, ophthalmoplegia, spasticity, basal ganglia symptoms, sensory symptoms, amyotrophy, including facial atrophy and fasciculations [4]. In addition, atrophy of the cerebellar vermis, hemispheres, brainstem and medial cerebellar peduncle are visualized on MRI in the early stages, resulting in an enlargement of the fourth ventricle. Furthermore, changes also occur in the caudate nucleus, putamen and upper cerebellar peduncle [5]. Conclusion: Through data analysis, there is a necessity to know the clinical and pathological characteristics of SCA3. This neurological disorder causes suffering for the patients, since it is a highly debilitating serious condition.
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Rocha, Isadora Souza, Paola Nabhan Leonel dos Santos, João Guilherme Bochnia Küster, Maria Angélica Vieira Lizama, Vinícius Riegel Giugno, Hélio Afonso Ghizoni Teive, and Salmo Raskin. "Pelizaeus-Merzbacher Disease with Novel Variant: Case Report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.672.
Повний текст джерелаАнотація:
Context: Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive hypomyelinating leukodystrophy caused by mutations in the proteolipid protein 1 (PLP1) gene, associated with myelin sheath development and stability. The result is a broad spectrum of clinical phenotypes. Diagnosis is confirmed by genetic testing. Clinical features include hypotonia followed by progressive spasticity, nystagmus, ataxia and cognitive impairment. Males are more affected. Females are asymptomatic or present milder symptoms. Most cases arise from duplications, point and null mutations. Null mutations are associated with milder phenotypes. Brain Magnetic Resonance Imaging (MRI) may reveal hypomyelination. There is no disease modifying treatment for PMD. We aim to present the case of a woman with a novel variant of the PLP1 gene. Case report: A 38-year-old female presented with 23 years of progression of upper limb tremor, speech impairment, lower limb rigidity and urinary incontinence. She reported abnormal development of reading and writing skills. She had a brother with cognitive impairment, delayed motor development, gait disorder and generalized tonic-clonic seizures; and a sister with upper limb tremor, dysarthria and behavioral disorder. Hypomyelination was detected on brain MRI. Complete exome sequencing detected a novel likely pathogenic variant of PLP1 gene: ChrX(GRCh37):NC_000023.10:g.103041651del:NM _000533.3:c449del, p.Asp150AlafsTer10, heterozygous. Conclusions: The patient’s case resembles a milder form of PMD. This is supported by literature linking deletions and female sex to milder phenotypes. In 20 to 40% of cases with suggestive clinical findings, no PLP1 mutation is found. New studies are needed to identify other variants associated with PMD.
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Na, Geoseong, Hyunmo Yang, Unbeom Shin, Yerim Kim, Sanzhar Askaruly, Taejoon Kwon, Yoonsung Lee, and Woonggyu Jung. "High-throughput screening with deep learning for quantitative phenotype analysis of zebrafish." In High-Speed Biomedical Imaging and Spectroscopy VII, edited by Keisuke Goda and Kevin K. Tsia. SPIE, 2022. http://dx.doi.org/10.1117/12.2610138.
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Chen, Chia-Yuan, Michael J. Patrick, Paola Corti, David Frakes, Beth L. Roman, and Kerem Pekkan. "In Vivo Hemodynamic Performance of Wild-Type vs. Mutant Zebrafish Embryos Using High-Speed Confocal Micro-PIV." In ASME 2010 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2010. http://dx.doi.org/10.1115/sbc2010-19317.
Повний текст джерелаАнотація:
In developing cardiovascular systems, definite performance comparison between disease and healthy hemodynamics requires quantitative tools to support advanced microscopy. Mutations in the activin receptor-like kinase 1 (ALK1) gene are responsible for the autosomal dominant vascular disease, hereditary hemorrhagic telangiectasia type 2 (HHT2), characterized by high flow arteriovenous malformations (AVMs) [1]. Recent studies show that the zebrafish mutant violet beauregrade (vbg), which harbors a mutation in alk1, develops an abnormal circulation with dilated cranial vessels and AVMs [2]. Quantitative understanding of mechanical influences on the alk1 mutant phenotype will aid treatment of HHT2 patients. Inspired by earlier studies that demonstrate the capability of using confocal micro-PIV technique to quantify biofluid dynamics in vivo [3], primarily in major vessels (dorsal aorta, vitelline veins), the present study focused on secondary branching great vessels of zebrafish embryos where microcirculation flow regimes are different. Furthermore, confocal microscopy, essentially being an imaging modality, requires rigorous validation efforts with respect to the gold standard measurement protocols (such as PIV) and synthetic scan data. Another objective of this work was to document the intra-species differences of wall shear stress (WSS) and flow physics during embryonic development in aortic arch systems of zebrafish [4].
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Guerra, Leonardo Cortez, Alessandra Luiza Lara Poloni, and Marcela Maria Mattos Almeida. "Multidisciplinary Care in Huntington’s Disease: Case Report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.463.
Повний текст джерелаАнотація:
Context: Huntington’s disease (HD) is a degenerative neurological disorder with autosomal dominant inheritance resulting from the loss of GABAergic neurons in the striatum. The prevalence of HD is 10.6 to 13.7 individuals per 100,000 in the Western population. Case report: DRO is a 57- year-old female admitted to a Long-Term Care Facility in 2018 due to the diagnosis of Huntington’s Disease (HD) four years ago. The patient presented right-side hemiplegia, choreic movements in the upper extremities, postural instability, dysarthria, visual hallucinations, behavioral changes, alert and communicative. During institutionalization, the occupational therapist, physical therapist and the speech therapist performed cognitive stimulation activities, motor physiotherapy with balance training, gait and muscle strengthening, interventions for dysarthria and dysphagia prevention. After a year, there was a disease progression with episodes of fall and deterioration of choreic movements, cognitive function and coordination; then, the physical therapist intensified motor rehabilitation and bracing in the left hand in the occupational therapy sessions due to the onset of deformities. In 2020, the patient reported stabilizing her clinical condition and continued the rehabilitation sessions. Conclusions: Physiotherapeutic interventions demonstrated improvement in muscle strength and gait in HD patients. However, the results are heterogeneous due to the morbidity and phenotypic variety of the disease. The response to occupational therapy and speech therapy lacks previous studies on this disease. Thus, the multidisciplinary therapeutic approach is indicated due to its importance in the patient’s overall assessment and prevention of comorbidities.
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Lee, Seung-Jae, Byung Kim, Geunbae Lim, Jong-Won Rhie, Hyun-Wook Kang, and Dong-Woo Cho. "Development of Three-Dimensional Alginate Encapsulated Chondrocyte Hybrid Scaffolds Using Microstereolithography." In ASME 2007 International Manufacturing Science and Engineering Conference. ASMEDC, 2007. http://dx.doi.org/10.1115/msec2007-31056.
Повний текст джерелаАнотація:
Hydrogels are useful materials because of their chemical similarity to extracellular matrix and their ability to rapidly diffuse hydrophilic nutrients and metabolites. Using rapid prototyping (RP) methods, we fabricated freeform three-dimensional (3-D) scaffolds with chondrocytes encapsulated in an alginate hydrogel. The 3-D hybrid scaffold was developed as combination of two components, a TMC/TMP framework and an alginate hydrogel within an encapsulation of chondrocytes. To develop 3-D hybrid scaffolds, we employed a microstereolithography system. The biodegradable, photo-polymerizable liquid prepolymer was prepared by the polymerization of trimethylene carbonate (TMC) with trimethylolpropane (TMP), and subsequently end-capped with an acrylate group. The meshed framework of scaffolds withstood mechanical loading effectively. The line depth and line width could be controlled by varying laser power, scan path, and scan speed. Results of cell culture indicate that the biomimetic nature of these encapsulated chondrocyte scaffolds effectively retain the phenotypic function of chondrocytes within the scaffold structure. The proposed 3-D hybrid scaffolds can be used for cartilage regeneration.
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Tang, Xin, and Taher Saif. "Loss of Cell Adhesion in Colon Cancer Cells During In Vitro Metastasis Measured by Bio-MEMS Force Sensor." In ASME 2012 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2012. http://dx.doi.org/10.1115/sbc2012-80936.
Повний текст джерелаАнотація:
Human colon carcinoma (HCT-8) cells show metastatic phenotype when cultured on appropriately soft substrates. Here, we studied the surface non-specific adhesion in HCT-8 cells throughout the in vitro metastasis process. A novel bio-MEMS force sensor was used to measure the cell-probe non-specific adhesion. The adhesion characteristics are analyzed using classical Johnson-Kendall-Roberts (JKR) theory. Our results indicate that the post-metastatic HCT-8 cells (dissociated R cells) display remarkably diminished surface adhesion and are potentially more invasive than original pre-metastatic HCT-8 cells (E cells). To the best of our knowledge, this is the first quantitative data on cancer cells adhesion change as in vitro metastasis proceeds. It is well known that, during in vivo cancer metastasis, malignant cancer cells reduce their surface adhesion (both specific and non-specific) [1] as well as modify their extracellular matrix (ECM) ligands [2] to detach from primary tumor and enhance successful invasion into distant healthy organs. Simultaneously, cancer cells down-regulate their surface cell-cell adhesion molecules, i.e. E-Cadherin, to escape from tumor and initiate metastasis [1]. However, there is no quantitative report on cancer cell adhesion throughout the entire metastasis process, since in vivo metastasis is nearly impossible to detect [3]. We had discovered [4] that human colon cancer cells (HCT-8) can consistently display an in vitro metastasis-like phenotype (MLP) within only 7 days of culture on soft hydrogel substrates with appropriate mechanical stiffness (Poly-acrylamide gels with Elastic modulus: 21∼ 47 kPa [14, 15]). We found that MLP is consistent, repeatable and irreversible (Fig. 1a-1c). In addition, the post MLP cancer cells (referred to here as R cells meaning round-shaped in contrast to the E-cells, i.e., the original HCT-8 cells that are epithelial in nature) up-regulate a number of in vivo tissue-destructive proteinases, such as, MMPs [4]. R cells also express remarkably diminished E-Cadherin patterns compared to HCT8 E cells (Fig. 1d, 1e). Using this model system, we are able to study the kinetics of non-specific and specific surface adhesion change on HCT-8 cancer cells. In this paper, we measure the non-specific adhesion of both pre and post metastatic HCT-8 cells (E and R cells respectively) using a novel bio-MEMS force sensor. The adhesion energy and other mechanical properties are analyzed using classical Johnson-Kendall-Roberts (JKR) theory [5]. We find that after undergoing metastasis (or MLP), the dissociated HCT-8 cells (R cells) down-regulate non-specific adhesion, in contrast to their ancestors, HCT-8 E cells. The reduction of non-specific adhesion is coincident with the immuno-fluorescent staining data of cell-cell specific adhesion molecule E-Cadherin, which shows 4 ∼ 6 times down-regulation after MLP (Fig. 1d-1e). The bio-MEMS sensor consists of a micro cantilever beam with spring constant k = 3.48 nN/ μm. A flat probe is attached with the beam which forms adhesive contact with cells. The sensor is made from single crystal silicon, and is coated with a thin layer of native silicon oxide (SiO2). The probe and the sensor are not functionalized. The sensor is manipulated with an x-y-z piezo stage. To measure the cell adhesion, the flat probe is brought in contact with cells’ lateral convex surface at the boundary. After a 2-minute contact, force sensor is pulled away horizontally from the cell island at a constant quasi-static speed of 2.1 ± 0.4 μm/s (Fig. 2a). Due to the cell-probe adhesion, the sensor beam deforms during retraction. Corresponding restoring force of the cell island is given by F = kδ (Fig. 2a-c). Note the probe is non-functionalized (free of any extra-cellular matrix proteins), and only has a coating of SiO2 on the surface due to air exposure. During probe retraction, the cell is continuously stretched while the cell-probe contact area radius Rc remains unchanged (Fig. 3b-e) and the contact angle θ increases (Fig. 3b). At critical value of force, Fc, the cell suddenly detaches from probe (Fig. 3d). The critical Fc at detachment is optically recorded by video camera and was determined as 27.8 ± 2.2 nN. A similar experiment on cells after MLP shows so measurable adhesion, i.e, the force to detach was zero for all the cells tested. Figure shows the measured adhesion in pre and post metastatic cells.