Letteratura scientifica selezionata sul tema "Myelin sheath Diseases Diagnosis"
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Articoli di riviste sul tema "Myelin sheath Diseases Diagnosis"
1
Maegawa, Gustavo H. B. "Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities". Journal of Child Neurology 34, n. 6 (13 febbraio 2019): 339–58. http://dx.doi.org/10.1177/0883073819828587.
Testo completoAbstract (sommario):
The leukodystrophies are a group of genetic metabolic diseases characterized by an abnormal development or progressive degeneration of the myelin sheath. The myelin is a complex sheath composed of several macromolecules covering axons as an insulator. Each of the leukodystrophies is caused by mutations in genes encoding enzymes that are involved in myelin production and maintenance. The lysosomal storage diseases are inborn disorders of compartmentalized cellular organelles with broad clinical manifestations secondary to the progressive accumulation of undegraded macromolecules within lysosomes and related organelles. The more than 60 different lysosomal storage diseases are rare diseases; however, collectively, the incidence of lysosomal storage diseases ranges just over 1 in 2500 live births. The majority of lysosomal storage diseases are associated with neurologic manifestations including developmental delay, seizures, acroparesthesia, motor weakness, and extrapyramidal signs. These inborn organelle disorders show wide clinical variability affecting individuals from all age groups. In addition, several of neurologic, also known as neuronopathic, lysosomal storage diseases are associated with some level of white matter disease, which often triggers the diagnostic investigation. Most lysosomal storage diseases are autosomal recessively inherited and few are X-linked, with females being at risk of presenting with mild, but clinically relevant neurologic manifestations. Biochemical assays are the basis of the diagnosis and are usually confirmed by molecular genetic testing. Novel therapies have emerged. However, most affected patients with lysosomal storage diseases have only supportive management to rely on. A better understanding of the mechanisms resulting in the leukodystrophy will certainly result in innovative and efficacious disease-modifying therapies.
2
Velichko, Ivan A., e Marina A. Barabanova. "GUILLAIN — BARRÉ SYNDROME AS A RELEVANT ISSUE OF NEUROLOGY (A LITERATURE REVIEW)". Kuban Scientific Medical Bulletin 26, n. 2 (17 maggio 2019): 150–61. http://dx.doi.org/10.25207/1608-6228-2019-26-2-150-161.
Testo completoAbstract (sommario):
Acute infl ammatory polyneuropathy is an important research problem of modern neurology. Guillain — Barré syndrome is a severe form of acute polyneuropathy, which is based on autoimmune infl ammation of the myelin sheath of roots and peripheral nerves. Guillain — Barré syndrome is an example of one of the most severe diseases of the nervous system, in which timely diagnosis, proper therapy and qualifi ed care facilitate the achievement of the full recovery of lost functions in most patients. Following an extensive review of Russian and foreign literature, this article discusses modern concepts of Guillain — Barré syndrome, in particular questions related to its epidemiology, etiopathogenesis, classifi cation, clinical features, diagnosis, treatment and prognosis.
3
Popovich, Sofia G., Lyudmila M. Kuzenkova, Olga B. Kondakova, Alexey I. Firumyants, Tatyana V. Podkletnova e Eugeniya V. Uvakina. "A clinical case of POL3A-associated hypomyelinating leukodystrophy with spinal cord lesion with a debut in early childhood". L.O. Badalyan Neurological Journal 3, n. 3 (30 settembre 2022): 122–26. http://dx.doi.org/10.46563/2686-8997-2022-3-3-122-126.
Testo completoAbstract (sommario):
Leukodystrophies are a group of hereditary progressive diseases of the central nervous system characterized by selective lesions in white matter with specific involvement of glial cells. There are hypomyelinating (absence of myelin deposition), demyelinating (loss of previously deposited myelin), dysmyelinating (deposition of structurally or biochemically abnormal myelin), and myelinolytic leukodystrophies (myelin vacuolization). Hypomyelinating leukodystrophies (HL), like most leukodystrophies, debut in childhood or adolescence and are characterized by a progressive course of the disease. HL occurs as a result of impaired synthesis of proteins responsible for the development, structure, and integrity of the myelin sheath, involved in the processes of transcription and translation. In the latter group, the main role is assigned to HL associated with biallelic mutations in the genes of the RNA polymerase III transcription complex, POLR3: POLR3A, POLR3B, POLR1C, and POLR3K. The diagnosis can be confirmed by magnetic resonance imaging of the brain. POLR3A-associated HL is manifested by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. The magnetic resonance features of POLR3-associated HL include diffuse hypomyelination with relative preservation of the dentate nuclei, anterolateral nuclei of the thalamus, globus pallidus, pyramidal tracts at the level of the posterior part of the internal capsules, and the corona radiata. In some cases, thinning of the corpus callosum and atrophy of the cerebellum were also noted. The article presents a clinical case of a patient with POL3A-associated HL with spinal cord injury with the debut in early childhood.
4
Zhang, Juan, Zhu Chen, Hui Chen, Yan Deng, Song Li e Lian Jin. "Recent Advances in the Roles of MicroRNA and MicroRNA-Based Diagnosis in Neurodegenerative Diseases". Biosensors 12, n. 12 (24 novembre 2022): 1074. http://dx.doi.org/10.3390/bios12121074.
Testo completoAbstract (sommario):
Neurodegenerative diseases manifest as progressive loss of neuronal structures and their myelin sheaths and lead to substantial morbidity and mortality, especially in the elderly. Despite extensive research, there are few effective treatment options for the diseases. MicroRNAs have been shown to be involved in the developmental processes of the central nervous system. Mounting evidence suggest they play an important role in the development of neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease. However, there are few reviews regarding the roles of miRNAs in neurodegenerative diseases. This review summarizes the recent developments in the roles of microRNAs in neurodegenerative diseases and presents the application of microRNA-based methods in the early diagnosis of these diseases.
5
Livak, P. E., O. S. Korchuk e N. P. Kozhukh. "Physical rehabilitation and recovery in neurological diseases". Shidnoevropejskij zurnal vnutrisnoi ta simejnoi medicini 2022, n. 2 (2022): 77–80. http://dx.doi.org/10.15407/internalmed2022.02.077.
Testo completoAbstract (sommario):
The author proved that the problem of neurological diseases is relevant despite the high development of medicine, because in conditions of stress, constant fatigue and poor ecology, we see the growth of patients with nervous disorders. Every year, more and more people of all ages turn to doctors with symptoms that indicate complex neurological diseases. Neurology includes a large number of diseases that can occur after viral diseases or due to improper lifestyle. The most common neurological diseases that cause a large number of deaths in Ukraine are Alzheimer’s disease, Parkinson’s disease, and multiple sclerosis. Some neurological diseases are more treatable and easier to tolerate, the progression and development of which can be stopped, while others are severe, which official medicine defines as incurable and lead to disability. It is important to seek the help of a specialist in time to correctly diagnose the disease and avoid unforeseen complications. For each patient it is necessary to select an individual treatment program that depends on the severity of the disease and diagnosis. Today, such a complex and currently incurable neurological disease as multiple sclerosis is becoming more common. This is a chronic autoimmune disease in which the myelin sheath of the nerve fibers of the brain and spinal cord is damaged and thus the functioning of the nervous system is disrupted. Today, this disease is one of the leading causes of disability in young patients. Occurs for unknown reasons and is constantly progressing, leading to serious physical changes and disability. The author argues that physical rehabilitation is a natural and extremely effective method of treating neurological diseases, including multiple sclerosis.
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Pourakbari, Hakimeh, Yashar Sarbaz, Jalal Parvin e Mohammad Hossein Vojudi. "Proper Features Extraction from the Multiple Sclerosis Disease Postural Disorders for Decision Support System Definition". Applied Mechanics and Materials 666 (ottobre 2014): 230–34. http://dx.doi.org/10.4028/www.scientific.net/amm.666.230.
Testo completoAbstract (sommario):
Multiple Sclerosis (MS) is one of the most common neurological diseases that it is often progressive and disabling. Its main cause is destruction of myelin sheaths by the immune system. Myelin damage seriously affects people’s physical activities, such as postural impairments. Early detection of the disease is very important in disease management. Unfortunately, currently there is no definite test for MS diagnosis. Of course, there are some tests that help to confirm the diagnosis in advanced stages of the disease butnone of them can independently confirm the disease and have some restrictions and errors. It seems that quantitative analysis of movement disorders especially postural disorders can be helpful in diagnosis of MS even in its early stages. In this study, posturalimpairment was studied. First postural disorders were extracted, then obtained signals were processed quantitatively sovariance and proper frequency features were extracted. At the end, using statistical tests it was shown that these features were significantly different. Therefore based on the results it is possible to design a classifier that can be a firm basis for presenting Decision Support System (DSS) for multiple sclerosis diagnosis.
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Stamate, Iulia Georgiana, Daniel Alexa, Bogdan Ignat e Cristian Dinu Popescu. "Ankylosing spondylitis and multiple sclerosis: a surprising parallel". Romanian Journal of Neurology 13, n. 3 (30 settembre 2014): 93–102. http://dx.doi.org/10.37897/rjn.2014.3.1.
Testo completoAbstract (sommario):
Ankylosing Spondylitis (AS) and Multiple Sclerosis (MS) are two different chronic autoimmune and inflammatory diseases, one rheumatic and the other one neurological, apparently without any connection between them. Yet a few case reports proved that AS may be associated with MS and this situation should be considered in some epidemiological environment. Although the geographic map of incidence is approximately superposed for both entities there are only a few cases of association. Recent studies revealed that most loci associated with MS are located very close to or even within genes encoding molecules involved in immune system function, confirming the hypothesis that MS is a disease with immunologic mechanism. In addition, some of these loci are also associated at least with another autoimmune disease, thus reinforcing the idea that autoimmune diseases may have a common origin. If MS is more common in patients with AS than in the general population, we can speculate the existence of common factors involved in these diseases. Because of the limited number of cases that associated these two diseases, the correct diagnosis of both entities considered separately or together becomes mandatory especially reflecting on the anti-TNFα agents used to treat AS which may exacerbate or induce a latent MS or demyelination processes in the central nervous system. In terms of pathogenic mechanisms, they are poorly known in both diseases, but each is characterized by an initial immune and inflammatory attack, in MS the target is the myelin sheath and in AS the enthesis tissue. A case with association between the two diseases raises important issues in choosing an appropriate treatment.
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Fedorova, V. S., A. G. Smochilin, A. I. Kulyakhtin, A. A. Yakovlev, M. S. Pushkaryov, A. V. Gavrichenko, E. A. Gavrilova e R. A. Gapeshin. "Charcot - Marie - Toots disease: description of 2 clinical cases of the disease in members of the same family (father and daughter)". Scientific Notes of the Pavlov University 27, n. 2 (25 settembre 2020): 63–71. http://dx.doi.org/10.24884/1607-4181-2020-27-2-63-71.
Testo completoAbstract (sommario):
Charcot — Marie — Tooth disease belongs to a genetically heterogeneous group of monogenic diseases with a predominant lesion of the peripheral nervous system associated with predominant degeneration of the myelin sheath and/or axon of the motor and sensory nerves and spinal roots, accompanied by motor disorders and specific pain syndrome. The article presents a description of 2 clinical cases of patients (father and daughter), whose disease was manifested by chronically progressive weakness and atrophy of the distal limb muscles, reflexes reduction, foot and hand deformation, gait changes and sensory disorders. Genetic tests were performed to detect duplication/deletion of the PMP22 gene and the expansion of GAA repeats in the FXN gene, which yielded negative results. Based on complaints, neurological examination, family medical history and data of instrumental research (EMNG), we made a clinical diagnosis of the CMT with an autosomal dominant type of inheritance and a high degree of penetrance. At the department, patients received the infusion therapy (neurometabolic therapy, vitamin therapy), physical therapy courses according to an individual plan, physiotherapy and reflexotherapy with a moderate positive effect in the form of a subjective increase in muscle strength in the lower extremities, increasing walking stability and confidence. The article also highlights the peculiarities of the pathogenesis of different genetic variants of CMT and prospect for pathogenetic treatment of this disease.
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Victor, Praznikov. "Diagnosis and Treatment of Alzheimers Disease and Parkinsons Disease with Resonance Medicine". Journal of Biomedical Research & Environmental Sciences 3, n. 9 (ottobre 2022): 1000–1006. http://dx.doi.org/10.37871/jbres1544.
Testo completoAbstract (sommario):
Parkinson Disease (PD) is a degenerative disease of the extrapyramidal motor system. The formations of the midbrain are affected and are expressed in 1. Tremor, 2. Hypokinesia, 3. Muscle rigidity, 4. Postural instability. Alzheimer's Disease (AD) is a progressive form of senile dementia, leading to a complete loss of cognitive abilities, developing mainly after 60-65 years of age. With these diseases, a large number of brain structures degenerate, including demyelinating brain processes. Both diseases are considered incurable. This article presents materials for the effective treatment of diseases by the method of resonance medicine - mainly the resonance of creation. With the help of the resonance of creation, the degenerated structures of the brain are restored. Until now, no methods have been known to restore dead brain cells. This review aims to present materials on the effective treatment (cure) of these diseases. For the treatment, the resonance therapy method was used, which has been known for at least 25 years and which has been modified in our work since 2016. The essence of our modification was that the author began to use 1. Not only low (previously known), but also high potencies of resonant drugs. 2. We have created a direction in resonance therapy, which is called "resonance of creation." So far, only the direction known as “resonance of destruction” is known, with the help of which oncological tissues, infectious processes, cysts, stones, etc. are treated - destroyed. With the help of the resonance of creation, various biological structures that have undergone degeneration and death are restored - the myelin sheath of the nerves in multiple sclerosis, nerve cells in Parkinson's disease and Alzheimer's disease, etc. With the help of the resonance of creation, the beta cells of the tail of the pancreas are restored in type 1 diabetes, and restoration of the lymphoid system in autoimmune diseases. For the treatment of PD and AD, appropriate preparations are prepared from the tested organopreparations. They are recorded on sugar grains in the potency that is necessary for treatment and resonant treatment of patients is carried out. Treatment of all tested brain structures showed that the patient responds to this treatment quite adequately. In the process of treatment, the “insular cortex” was the first to stop testing, then the “basal nucleus”. As the testability of these brain structures decreased, the patient reported that his condition became significantly better, not only in terms of short-term memory recovery, but also in other indicators. In patients with moderate dementia, in the first weeks of treatment, organ preparations, the "insular cortex", "basal nucleus", "temporal lobe", "isocortex" and those that are characteristic of Parkinson's disease - "lenticular nucleus", "paranigra dopamine nuclei of the middle brain", "roof of the midbrain". Subsequently, the hippocampus, the piriform lobe, the insular field, and the hippocampal pre-basement were no longer tested. At the same time, the reports of the patients' relatives changed: “Our patient began to cry less, be less offended by us and began to recognize loved ones more often - children, grandchildren. Another very important thing is that it has become easier to get up from a chair. Before starting treatment, getting up from a chair was a difficult and lengthy process for her. She became less touchy, became less likely to incontinence. Treatment is carried out until the complete loss of AD symptoms. It has been established that in Alzheimer's disease, the restoration of degenerated formations - the hippocampus, neocortex, amygdala, basal nucleus, isocortex, the pre-foundation of the hippocampus, the insular cortex, the brain septum, the temporal lobe, the parietal lobe, the paralimbic cortex, the piriform lobe led to the restoration these degenerated masses and effective clinical improvement in patients with Alzheimer's disease. The above indicates the effective treatment of PD and AD by the method of resonance of creation.
10
Рушкевич, Ю. Н., С. А. Лихачев, Л. В. Костоправова, Д. В. Науменко, Т. Г. Гвищ e С. Г. Клюнчик. "Clinical Observation of a Combination of Neurofibromatosis Type I and Multiple Sclerosis". Неврология и нейрохирургия. Восточная Европа, n. 1 (29 aprile 2020): 127–38. http://dx.doi.org/10.34883/pi.2020.10.1.051.
Testo completoAbstract (sommario):
В статье изложено описание клинического наблюдения пациента с сочетанием нейрофиброматоза I типа и рассеянного склероза. Наличие этих двух заболеваний у одного и того же пациента встречается крайне редко. Ни одно из клинических проявлений нейрофиброматоза I типа, являющегося генетически детерминированным заболеванием, не связано с демиелинизацией, в то время как центральным звеном в патогенезе рассеянного склероза является разрушение миелиновой оболочки аксонов центральной нервной системы. Проводился детальный анализ течения болезни пациентки с указанием развившихся осложнений. Для визуальной оценки прилагаются иллюстрации магнитно-резонансных и компьютерных томограмм, рентгенограмм. Выполнен обзор литературных данных, согласно которым описан ряд клинических наблюдений пациентов с сочетанием нейрофиброматоза I типа и рассеянного склероза. Приведены сведения о генетической природе наследственного заболевания: ген нейрофиброматоза 1 кодирует белок нейрофибромин, который обладает проонкогенным действием. Рассмотрены возможные патогенетические механизмы сочетанного возникновения этих заболеваний у одного и того же пациента. В качестве основных диагностических критериев изложены клинические симптомы, рекомендованные Международным комитетом экспертов по нейрофиброматозу, также подробно описаны дерматологические, офтальмологические и другие проявления болезни, часто выявляемые осложнения. Представлены современные аспекты диагностики и лечения нейрофиброматоза 1. ThearticledescribestheclinicalobservationofapatientwithacombinationoftypeIneurofibromatosis and multiple sclerosis. The presence of these two diseases in the same patient is extremely rare. None of the clinical manifestations of type I neurofibromatosis, which is a genetically determined disease, is associated with demyelination, while the central link in the pathogenesis of multiple sclerosis is the destruction of the myelin sheath of the axons of the central nervous system. A detailed analysis of the course of the patients disease was carried out, indicating the complications that developed. For visual assessment, illustrations of magnetic resonance and computed tomograms, radiographs are attached. A review of the literature data has been performed, according to which a number of clinical observations of patients with a combination of type I neurofibromatosis and multiple sclerosis are described. Information is given on the genetic nature of a hereditary disease: the neurofibromatosis I gene encodes a protein neurofibromin, which has a pro-oncogenic effect. Possible pathogenetic mechanisms of the combined occurrence of these diseases in the same patient are considered. The main diagnostic criteria are clinical symptoms recommended by the International Committee of Experts on Neurofibromatosis, and dermatological, ophthalmic and other manifestations of the disease, often identified complications, are also described in detail. The modern aspects of the diagnosis and treatment of neurofibromatosis I are presented.
Tesi sul tema "Myelin sheath Diseases Diagnosis"
1
Cai, Zhao. "A technique for examining longitudinal and cross sections of teased nerve fibres and its application to human and experimental neuropathy". Title page, contents and summary only, 2002. http://web4.library.adelaide.edu.au/theses/09PH/09phc1326.pdf.
Testo completoAbstract (sommario):
Includes bibliographical references (leaves 194-225) A new method is described that enables longitudinal and cross sections of an individual nerve fibre to be cut at multiple specified sites along the fibre by use of an unique marker system. The method is particularly useful for the correlative study of myelin-axon relationships
2
Vana, Adam C. "The oligodendrocyte progenitor response to demyelination /". Download the dissertation in PDF, 2006. http://www.lrc.usuhs.mil/dissertations/pdf/vana2006.pdf.
Testo completo
3
Sirisi, Dolcet Sònia. "Bases moleculars de la Leucoeocefalopatia Megalencefàllca amb Quists subcorlicals. Utilització de models animals i cel·lulars". Doctoral thesis, Universitat de Barcelona, 2014. http://hdl.handle.net/10803/284761.
Testo completoAbstract (sommario):
La Leucoencefalopatia Megalencefàlica amb quists subcorticals, també anomenada MLC, és un tipus rar de leucodistròfia vacuolitzant. Actualment encara es desconeix el mecanisme fisiopatològic de la malaltia, i per tant ni hi ha cap tractament possible per als pacients.
S’han descrit dos gens implicats en la malaltia MLC. El primer gen descobert s’anomena MLC1 i codifica per una proteïna de membrana que porta el mateix nom. El segon gen s’anomena GLIALCAM i codifica per una proteïna transmembrana de tipus I que també porta el mateix nom. S’ha decrit que la proteïna GlialCAM actua com a subunitat ß de MLC1 ja que es capaç de dirigir-la i concentrar-la a les unions cel•lulars. Per altra banda, GlialCAM també s’ha descrit com a subunitat auxiliar del canal de Cl- ClC-2 ja que és capaç de modificar les propietats d’activació i rectificació del canal.
En la present tesi s’han generat i estudiat diferents models animals i cel•lulars per a l’estudi de la malaltia. En primer lloc, s’ha generat i s’ha caracteritzat un model de ratolí knock-out per a Mlc1. Gràcies a aquest model s’ha observat que la proteïna MLC1 és únicament astrocitària i que la proteïna GlialCAM no es independent de MLC1, ja que en absència d’aquesta es troba deslocalitzada en el cerebel. També s’ha pogut descriure per primer cop la implicació del canal de Cl- ClC-2 en la fisiopatologia, ja que els seus nivells de proteïna disminuixen en el cerebel i el canal es troba gairebé inactiu en els oligodendròcits de l’animal knock-out. Les característiques fenotípiques que presenta el model de ratolí equivalen a les característiques observades en els pacients en fases inicials de la malaltia, ja que l’animal tot i que mostra presència de vacuoles no presenta deteriorament motor i macrocefàlia aparent.
També s’ha generat un model de peix zebra knock-out per a zmlc1. Aquest model presenta avantatges respecte el ratolí, com per exemple el baix cost o l’aplicació de tècniques genètiques a gran escala. Aquest model ha permés observar de nou que realment GlialCAM necessita a MLC1 per a la seva correcta localització. També s’ha observat que l’ortòleg zGlialCAMa conserva la seva funció de entre espécies ja que també es capaç de modificar les corrents de ClC-2.
Aquests resultats obtinguts amb els models s’han pogut comparar amb el cervell d’una pacient. Aquest cervell demostra que MLC1 és necessària per a la correcta localització de GlialCAM en la regió del cerebel.
Per altra banda, s’han desenvolupat diferents models cel•lulars. Primerament s’han estudiat els astròcits del ratolí knock-out. Aquestes cel•lules mancades de MLC1 també presenten vacuoles per tot el citoplasma, però no mostren canvis en la localització ni en els nivells de proteïna de GlialCAM i ClC-2. Aquest fet juntament amb altres estudis del grup van fer pensar si la condició necessària per a que es veguessin afectades aquestes proteïnes estaria relacionada amb el procés del sifoneig de K+.
Estudis realitzats en astròcits de rata demostren que en condicions d’un alt contingut de K+, com per exemple durant una alta activitat neuronal, GlialCAM i ClC-2 és localitzen juntament a les membranes cel•lular i ClC-2 canvia les seves propietat de canal. Paral•lelament, estudis realitzats en oligodendròcits de rata també demostren que aquest fet també succeix en aquest tipus cel•lular.Megalencefalic leukoencephalopathy with subcortical cysts, also known as MLC, is a rare type of leukodystrophy. Currently still unknown pathophysiological mechanism of the disease, and therefore there is no effective treatment possible for patients. There are two genes involved in the MLC disease. Gene was first discovered was MLC1 and this encodes for a membrane protein with the same name. The second gene is called GLIALCAM and encodes for a transmembrane protein type I that also carries the same name. In our group is has been described that GlialCAM acts as a protein ß subunit of MLC1 because it is able to direct and concentrate in the cellular junctions. Moreover, GlialCAM also act as auxiliary subunit of CLC-2 Cl channel as it is capable of modifying the activation and rectification properties of the channel. In this work we have developed two different models to study the physiopathology. The results show that GlialCAM affected by the absence of MLC1. It has been also demonstrated that ClC-2 is implicated in the disease.These results were compared with a patient brian and has been shown that MLC1 is important for the correct location of GlialCAM in the cerbellum. Have also been developed a different cellular models. The results with this models show that GlialCAM and ClC-2 could have a functional role in the process of potassium siphoning.
4
Arnedo, Llena Tanit. "Paper del canal de clorur CIC-2 en les patologies de la mielina". Doctoral thesis, Universitat de Barcelona, 2015. http://hdl.handle.net/10803/310220.
Testo completoAbstract (sommario):
La Leucoencefalopatia Megalencefàlica amb Quists subcorticals (MLC) és un tipus rar de leucodistròfia vacuolitzant de progressió lenta, que presenta com a principals característiques clíniques macrocefàlia acusada durant els primers anys de vida, deteriorament de les funcions motores, epilèpsia i retard mental de grau mig. Actualment encara es desconeix el mecanisme fisiopatològic de la malaltia, i per tant ni hi ha cap tractament possible per als pacients. S’han descrit dos gens implicats en la malaltia MLC. El primer gen descobert s’anomena MLC1 i codifica per una proteïna de membrana que porta el mateix nom. El segon gen s’anomena GLIALCAM i codifica per una proteïna transmembrana de tipus I que també porta el mateix nom. S’ha decrit que la proteïna GlialCAM actua com a subunitat ß de MLC1 ja que es capaç de dirigir-la i concentrar-la a les unions cel·lulars. Per altra banda, GlialCAM també s’ha descrit com a subunitat auxiliar del canal de Cl- ClC-2 ja que és capaç de modificar les propietats d’activació i rectificació del canal. Recentment s’ha descrit mutacions en ClC-2 associades a un tipus de leucodistròfia vacuolitzant. L’objectiu general d’aquesta Tesi és avançar en la comprensió del possible mecanisme d’acció i la funció de la proteïna GlialCAM i ClC-2 i així aprofundir en el coneixement de en el seu paper en les cèl·lules glials així com en la fisiopatologia de les leucoencefalopaties vacuolitzants. Per a realizar aquest objectiu es van realitzar estudis d’estructura-funció de GlialCAM mitjançant la caracterització bioquímica i funcional de noves mutacions en GLIALCAM associades a MLC. S’ha obtingut una classificació de les mutacions en GLIALCAM en funció del defecte que presentaven. S’ha descrit mutacions defectives en la expressió proteica, defectives en la homooligomerització i en el tràfic a les unions cel·lulars, defectives únicament en el tràfic cel·lular, mutacions sensibles a la manca de MLC1 i mutacions defectives en la internalització de la proteïna. Paral·lelament es va aprofundir en la relació bioquímica entre GlialCAM i ClC-2 a partir de l’estudi bioquímic i funcional de mutacions en CLCN2 associades a leucoencefalopaties vacuolitzants. S’ha observat que GlialCAM augmenta la funció del canal ClC-2 a través de la modificació del gating del canal i de la estabilització de ClC-2 a la membrana plasmàtica però no sembla que millori la sortida de ClC-2 del reticle endoplasmàtic. A més, aquesta estabilització requereix de la formació d’homocomplexes de GlialCAM. Per últim, es va generar i caracteritzar un model knock-down de la proteïna ClC-2 per aprofundir el paper de ClC-2 en els astròcits. Així com també es va avançar en la relació bioquímica i funcional entre GlialCAM i ClC-2 en la fisiologia astrocitària. S’ha descrit que en astròcits en cultiu en condicions d’alta concentració de K+, similar al que succeiria en situacions d’alta activitat neuronal, ClC-2 es transloca de l’aparell de Golgi a les membranes cel·lulars, modificant les seves propietats funcionals per l’efecte de GlialCAM. En canvi, en astròcits deficients de MLC1, ClC-2 es troba retinguda citoplasmàticament. Aquest fet, indicaria que aquestes proteïnes podrien tenir un paper en el procés de sifoneig del K+, i per tant, la deslocalització de ClC-2 podria donar lloc a un desordre en l’homeòstasi d’aigua i ions.Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a rare type of vacuolating leukodystrophy. Currently still unknown pathophysiological mechanism of the disease, and therefore there is no effective treatment possible for patients. There are two genes involved in the MLC disease. Gene was first discovered was MLC1 and this encodes for a membrane protein with the same name. The second gene is called GLIALCAM and encodes for a transmembrane protein type I that also carries the same name. In our group is has been described that GlialCAM acts as a protein ß subunit of MLC1 because it is able to direct and concentrate in the cellular junctions. Moreover, GlialCAM also act as auxiliary subunit of CLC-2 Cl channel as it is capable of modifying the activation and rectification properties of the channel. Recently, mutations in ClC-2 have been associated with a rare type of vacuolating leukodystrophy. The principal aim of this study is to advance in the knowledge of GlialCAM and ClC-2 in the glial cells and into the pathogenesis of vacuolating leukodistrophies. To accomplish the study, the group performed a biochemical and funcional characterization of new mutations in GLIALCAM associated with MLC. We suggest that the HEPACAM mutations described up to now can be classified in several groups. Some mutations can affect GlialCAM protein expression, affect its ability to cis-homooligomerize and consequently reduce their localization in cell–cell junctions. Some mutations can affect specifically only transinteractions between GlialCAM molecules or may be unstable without MLC1 and finally some mutations affect the protein internalization. Parallel progress was made in the biochemical relationship between GlialCAM and ClC-2 from biochemical and functional studies of mutations in CLCN2 associated with vacuolating leukodystrophies. GlialCAM has been observed to increase ClC-2 function by the modification of its gating and the stabilization of ClC-2 in the plasma membrane. In addition, the stabilization requires a previous formation of GlialCAM’s homocomplexes. Finally, a knock-down model of the CLC-2 protein was generated and characterized to deepen the role of CLC -2 astrocytes. As well as progress was made in biochemistry and functional relationship between CLC -2 and GlialCAM in the astrocitic physiology. It has been reported that astrocytes cultured in conditions of high concentrations of K + , similar to what happens in situations of high neuronal activity , CLC -2 translocates from the Golgi apparatus to the cell membrane , changing the its functional properties for the purpose of GlialCAM . However, in MLC1 deficient astrocytes, CLC -2 is retained intracellularly. This would indicate that these proteins could play a role in the potassium siphoning, and therefore the relocation of CLC -2 could lead to disorder in the homeostasis of water and ions.
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Santos, Vives Alicia. "Estudio neuropsicológico, neurorradiológico y clínico en el hipercortisolismo endógeno = Neuropsychological, neuroradiological and clinical study in endogenous hypercortisolism". Doctoral thesis, Universitat de Barcelona, 2015. http://hdl.handle.net/10803/384710.
Testo completoAbstract (sommario):
Endogenous Cushing’s syndrome is a rare disease due to an excess of circulating cortisol. Chronic cortisol excess can lead to different comorbidities which may persist after biochemical cure, including brain volume decrease, neuropsychological impairment, mood disorders and high cardiovascular risk.
This PhD thesis aims to study some of the effects of Cushing’s syndrome on the brain, and its relationship to other clinical parameters. More specifically, the aims of this thesis include analyzing cerebellar volume in patients with Cushing’s syndrome and establishing associations with neuropsychological performance, cortisol levels and other clinical parameters. On the other hand, it pretends to analyse brain white matter lesions in patients with Cushing’s syndrome and the relationship between cardiovascular risk, white matter lesions, neuropsychological performance and brain volume.
Our results showed smaller cerebellar cortex volumes in active patients, but not in patients in remission, in comparison to controls. Cerebellar cortex positively correlated with visual memory performance and quality of life, and negatively correlated with age at diagnosis and triglyceride levels. Active patients had worse memory performance than controls. Both patient groups had higher anxiety and depression levels than controls. Patients in remission (but not active patients) had a higher degree of white matter lesions than controls. White matter lesions where correlated to diastolic blood pressure and duration of hypertension. Patients in remission on hydrocortisone replacement had higher level of white matter lesions than patients in remission not taking hydrocortisone. Finally, both patient groups (active and in remission) had higher cardiovascular risk than controls. Cardiovascular risk negatively correlated with cognitive function and cerebellar volume in patients in remission.
In conclusion, Cushing’s syndrome leads to different comorbidities in the two phases of the disease (active and in remission). Some of the alterations found in active patients may be, at least, partially reversible, although the cardiovascular risk associated with Cushing’s syndrome may lead to further comorbidities in the future if it is not controlled. These data highlight the importance of providing psychological support to the patients if necessary and controlling cardiovascular risk in order to prevent brain damage and to reduce the risk of stroke or heart attack.El síndrome de Cushing endógeno es una enfermedad rara debida a un exceso de cortisol circulante. El exceso crónico de cortisol puede provocar una serie de alteraciones que no en todos los casos revierten tras la curación hormonal, y que incluyen disminución del volumen cerebral, alteraciones neuropsicológicas y del estado de ánimo y riesgo cardiovascular elevado. Esta tesis pretende estudiar algunos de los efectos que provoca el síndrome de Cushing a nivel cerebral, analizando su relación con otros parámetros clínicos. Concretamente, los objetivos de la tesis incluyen por un lado analizar el volumen cerebelar en los pacientes con síndrome de Cushing, así como establecer su relación con el rendimiento neuropsicológico, los niveles de cortisol y otros parámetros clínicos. Por otro lado, se pretende analizar la presencia de lesiones de sustancia blanca cerebral en los pacientes con síndrome de Cushing y la relación entre riesgo cardiovascular, lesiones de sustancia blanca, rendimiento neuropsicológico y volumen cerebral. Se encontraron menores volúmenes del córtex cerebelar bilateral en los pacientes activos, pero no en los pacientes curados, en comparación con los controles. El córtex cerebelar correlacionó positivamente con el rendimiento en memoria visual y la calidad de vida y negativamente con la edad en el momento del diagnóstico y el nivel de triglicéridos circulantes. Los pacientes activos presentaban peor rendimiento a nivel de memoria, y ambos grupos de pacientes presentaban mayores niveles de ansiedad y depresión que los controles sanos. Por otro lado, los pacientes en remisión, pero no los pacientes activos presentaron mayor nivel de lesiones de sustancia blanca cerebral que los controles sanos. Estas lesiones estaban relacionadas con los niveles de tensión diastólica y la duración de la hipertensión. Los pacientes en remisión que tomaban hidrocortisona presentaban mayor nivel de lesiones que los pacientes en remisión que no tomaban el fármaco. Finalmente ambos grupos de pacientes (activos y en remisión) presentaban mayor riesgo cardiovascular que los controles sanos. El riesgo cardiovascular correlacionó negativamente con la función cognitiva y el volumen cerebral en los pacientes en remisión. En conclusión, el síndrome de Cushing determina diferentes comorbilidades en las distintas fases de la enfermedad. Algunas de las alteraciones halladas en los pacientes activos podrían ser al menos parcialmente reversibles, aunque el riesgo cardiovascular asociado a la enfermedad puede llevar a otras comorbilidades en el futuro si no se controla. Estos datos remarcan la importancia de proporcionar un soporte psicológico a los pacientes en caso necesario y de controlar el riesgo vascular para prevenir la posible afectación cerebral futura y reducir el riesgo de complicaciones cardiovasculares.
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Cai, Zhao. "A technique for examining longitudinal and cross sections of teased nerve fibres and its application to human and experimental neuropathy / a thesis submitted by Zhao Cai". Thesis, 2002. http://hdl.handle.net/2440/21761.
Testo completoAbstract (sommario):
Includes bibliographical references (leaves 194-225)ix, 225, vii leaves : ill. (some col.) ; 30 cm.
A new method is described that enables longitudinal and cross sections of an individual nerve fibre to be cut at multiple specified sites along the fibre by use of an unique marker system. The method is particularly useful for the correlative study of myelin-axon relationships
Thesis (Ph.D.)--University of Adelaide, Dept. of Medicine, 2002
Libri sul tema "Myelin sheath Diseases Diagnosis"
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J, Valk, e Valk J, a cura di. Magnetic resonance of myelin, myelination, and myelin disorders. 2a ed. Berlin: Springer, 1995.
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Knaap, Marjo S. van der., a cura di. Magnetic resonance of myelin, myelination, and myelin disorders. Berlin: Springer-Verlag, 1989.
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Marjo S. van der Knaap. Magnetic resonance of myelination and myelin disorders. 3a ed. Berlin: Springer, 2005.
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NATO Advanced Research Workshop on a Multidisciplinary Approach to Myelin Diseases (1986 Rome, Italy). A multidisciplinary approach to myelin diseases. New York: Plenum Press, 1987.
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D, Duncan I., Skoff R. P, Colman D e New York Academy of Sciences., a cura di. Myelination and dysmyelination. New York, N.Y: New York Academy of Sciences, 1990.
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Ay-ming, Wang, a cura di. Pediatric cranial MRI: An atlas of normal development. New York: Springer-Verlag, 1994.
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J, Vinken P., e Koetsier Johan C, a cura di. Demyelinating diseases. Amsterdam: Elsevier Science Publishers, 1985.
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Satellite Symposium on Myelination and Demyelination: Implications for Multiple Sclerosis (1987 Vancouver, B.C.). Myelination and demyelination: Implications for multiple sclerosis. New York: Plenum Press, 1989.
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(Susanne), Pitz S., e SpringerLink (Online service), a cura di. Primary Optic Nerve Sheath Meningioma. Berlin, Heidelberg: Springer-Verlag, 2008.
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Valk, Jacob, e Marjo S. van der Knaap. Magnetic Resonance of Myelin, Myelination and Myelin Disorders. Springer London, Limited, 2013.
Cerca il testo completoCapitoli di libri sul tema "Myelin sheath Diseases Diagnosis"
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Zalc, B., M. Monge e C. Jacque. "Oligodendroglial Emergence and Deposition of Four Major Myelin Constituents in the Myelin Sheath During Development: An in Vivo Study". In A Multidisciplinary Approach to Myelin Diseases, 77–85. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4757-0354-2_6.
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Singh, Ashok Kumar, e J. N. Srivastava. "Sheath Blight Disease of Paddy and Their Management". In Recent Advances in the Diagnosis and Management of Plant Diseases, 91–99. New Delhi: Springer India, 2015. http://dx.doi.org/10.1007/978-81-322-2571-3_9.
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Lassmann, Hans, Raymond A. Sobel e Danielle Seilhean. "Multiple Sclerosis and Related Inflammatory Demyelinating Diseases". In Escourolle and Poirier's Manual of Basic Neuropathology, 161–72. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199929054.003.0007.
Testo completoAbstract (sommario):
This chapter describes and illustrates the morphologic changes observed in inflammatory demyelinating diseases. These are defined by the selective destruction of myelin sheaths and oligodendrocytes, arising in a background of acute or chronic inflammation. The spectrum of inflammatory demyelinating diseases includes multiple sclerosis, acute disseminated encephalomyelitis, Balo concentric sclerosis, and neuromyelitis optica. The etiology and pathogenesis of the diseases are discussed and criteria for the diagnosis of inflammatory demyelinating diseases on brain biopsies are provided.
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Acosta, Maria T. "Neurofibromatosis Type 1: Cognitive and Behavioral Phenotype: Diagnosis and Treatment". In Cognitive and Behavioral Abnormalities of Pediatric Diseases. Oxford University Press, 2010. http://dx.doi.org/10.1093/oso/9780195342680.003.0045.
Testo completoAbstract (sommario):
Neurofibromatosis type 1 (Nf1) is a neurocutaneous disorder with a prevalence of approximately 1 in 2,500–3,500 individuals (Ferner et al. 2007). The physical manifestations of Nf1, such as café au lait spots, axillary freckling, iris hamartomas (Lisch nodules), osseous lesions (sphenoid wing dysplasia, pseudoarthrosis), and benign as well as malignant neural tumors (neurofibromas, optic gliomas), are well recognized (Castle et al. 2003; Ferner et al. 2007). National Institutes of Health (NIH) criteria are currently used for clinical diagnosis (1988) (Table 31.1). The clinical severity of this disorder is quite variable, and approximately 20% of children with Nf1 will later have considerable physical complications (Castle et al. 2003; Ferner et al. 2007; Williams et al. 2009). Other clinical manifestations are abnormalities of the cardiovascular, gastrointestinal, renal, and endocrine systems, facial and body disfigurement, cognitive deficit, and malignancies of the peripheral nerve sheath and central nervous system. The tumors that occur in Nf1 are dermal and plexiform neurofibromas, optic gliomas, malignant peripheral nerve sheath tumors (MPNSTs), pheochromocytomas, and rhabdomyosarcomas (Castle et al. 2003). Children with Nf1 have an increased risk of developing myeloid disease, particularly juvenile chronic myeloid leukemia. Some 30%–40% of Nf1 patients develop plexiform neurofibromas (Szudek, Evans, and Friedman 2003). Malignant peripheral nerve sheath tumors are present in 5%–10% of cases (Evans et al. 2002), often in preexisting plexiform neurofibromas (Castle et al. 2003). Although many see the predisposition to cancer as the major concern regarding Nf1, some of the more prevalent features are not directly related to tumors (Acosta, Gioia, and Silva 2006). Cognitive dysfunction, academic difficulties, and school failure, occur in 40%–80% (Hyman, Arthur, and North 2006; Krab et al. 2008; North et al. 1997). These complications affect the day-to-day life of these children, and are the largest cause of lifetime morbidity in the pediatric Nf1 population (Acosta et al. 2006). These deficits impact on long-term adaptation to society (Acosta et al. 2006; Barton and North 2007; Krab et al. 2008; Krab et al. 2009).
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Doğan, Serhat, Selim Sözen, Burhan Hakan Kanat, Gökhan Söğütlü, Mehmet Gençtürk e Hasan Erdem. "Rectus Sheath Hematoma". In Trauma and Emergency Surgery. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.101438.
Testo completoAbstract (sommario):
A hematoma is a collection of blood in an extravascular space and is named according to its location. Rectus sheath hematoma (RSH) was first described by Hippocrates and Galen about 25 centuries ago due to abdominal trauma, which is a rare cause of acute abdomen. It is uncommon, which may lead to delayed diagnosis in patients with acute abdomen. This condition arises due to trauma or hypertension in patients with bleeding disorders, using anticoagulants, doing heavy physical exercise, pregnant women, connective tissue diseases, and hematological diseases. The diagnosis can be made by detailed anamnesis, physical examination, ultrasonography, and contrast-enhanced abdominal tomography. For a accurate diagnosis, first of all, the medical history of these patients should be carefully questioned. CT and ultrasonography (USG) are used in the diagnosis of this condition. In many patients, conservative treatment by eliminating the predisposing factor is sufficient. In conclusion, with the increase in use of anticoagulation, the incidence of RSH is expected to increase. Every physician in the surgical field should keep rectus sheath hematoma at the top of the differential diagnosis list in patients presenting with acute abdominal pain and palpable abdominal mass.
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Tobin, W. Oliver. "Diagnosis of Multiple Sclerosis". In Mayo Clinic Neurology Board Review, a cura di Kelly D. Flemming, 540–47. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780197512166.003.0065.
Testo completoAbstract (sommario):
Multiple sclerosis is the most common idiopathic inflammatory demyelinating disease of the central nervous system (CNS), with a prevalence of 1 in 500 to 1 in 2,000 people, depending on geography and various other factors. Idiopathic inflammatory demyelinating diseases are a group of related disorders that include acute disseminated encephalomyelitis, neuromyelitis optica spectrum disorder, and myelin oligodendrocyte glycoprotein–immunoglobulin G–associated CNS demyelinating disease.
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SCHRAMME, M. "Diseases of the Digital Synovial Sheath, Palmar Annular Ligament, and Digital Annular Ligaments". In Diagnosis and Management of Lameness in the Horse, 674–84. Elsevier, 2003. http://dx.doi.org/10.1016/b978-0-7216-8342-3.50082-6.
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Schramme, Michael C., e Roger K. W. Smith. "Diseases of the Digital Flexor Tendon Sheath, Palmar Annular Ligament, and Digital Annular Ligaments". In Diagnosis and Management of Lameness in the Horse, 764–76. Elsevier, 2011. http://dx.doi.org/10.1016/b978-1-4160-6069-7.00074-2.
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Zhou, Xin-Gen, Dongyan Zhang e Fenfang Lin. "UAV Remote Sensing: An Innovative Tool for Detection and Management of Rice Diseases". In Diagnostics of Plant Diseases [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.95535.
Testo completoAbstract (sommario):
Unmanned aerial vehicle (UAV) remote sensing is a new alternative to traditional diagnosis and detection of rice diseases by visual symptoms, providing quick, accurate and large coverage disease detection. UAV remote sensing offers an unprecedented spectral, spatial, and temporal resolution that can distinguish diseased plant tissue from healthy tissue based on the characteristics of disease symptoms. Research has been conducted on using RGB sensor, multispectral sensor, and hyperspectral sensor for successful detection and quantification of sheath blight (Rhizoctonia solani), using multispectral sensor to accurately detect narrow brown leaf spot (Cercospora janseana), and using infrared thermal sensor for detecting the occurrence of rice blast (Magnaporthe oryzae). UAV can also be used for aerial application, and UAV spraying has become a new means for control of rice sheath blight and other crop diseases in many countries, especially China and Japan. UAV spraying can operate at low altitudes and various speeds, making it suitable for situations where arial and ground applications are unavailable or infeasible and where precision applications are needed. Along with advances in digitalization and artificial intelligence for precision application across fertilizer, pest and crop management needs, this UAV technology will become a core tool in a farmer’s precision equipment mix in the future.
Atti di convegni sul tema "Myelin sheath Diseases Diagnosis"
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Coelho, Elton Marcio Marques, Mônica Cardoso do Amaral, João Mário Abrantes Aguiar Dourado e Carla Jamile Jabar Menezes. "Clinical-epidemiological profile of patients hospitalized with Multiple Sclerosis in the state of Sao Paulo". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.541.
Testo completoAbstract (sommario):
Introduction: Multiple Sclerosis (MS) is an autoimmune disease of the central nervous system that consists of the development of autoantibodies against the myelin sheath in neuronal axons causing demyelinating inflammatory sites. It is a disease currently incurable. Objectives: The objective was to describe the epidemiological clinical profile of patients hospitalized with MS in the State of São Paulo, in the period from 2011 to 2021. Methods: This is an epidemiological, descriptive and retrospective study, with quantitative analysis, whose source of data was the Information System for Notifiable Diseases, from the Ministry of Health. The data were tabulated in graphs and tables using Microsoft Excel 2010. Results: 10,386 admissions of MS were reported in the state. Of the total cases, 67.4% occurred in females and 80.3% in race white. 43.5% of patients in the age group between 30 and 39 years. 94.4% were hospitalized on an elective basis. The average length of stay is between 3.3 days, with mortality rate representing 0.64% of the total. Conclusion: A higher prevalence was observed in the age range between 30 and 39 years and a predominance of hospitalizations among women. Although it is a disease with high morbidity and mortality, the mortality was low. It suggests that there are variables to be analyzed, such as a possible underreporting of this disease and also the advent of early diagnosis strategies and treatments that can modify the course of the disease, mitigating mortality.
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Coelho, Elton Marcio Marques, Mônica Cardoso do Amaral, João Mário Abrantes Aguiar Dourado e Carla Jamile Jabar Menezes. "Clinical-epidemiological profile of patients hospitalized with Multiple Sclerosis in the state of Sao Paulo". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.549.
Testo completoAbstract (sommario):
Introduction: Multiple Sclerosis (MS) is an autoimmune disease of the central nervous system that consists of the development of autoantibodies against the myelin sheath in neuronal axons causing demyelinating inflammatory sites. It is a disease currently incurable. Objectives: The objective was to describe the epidemiological clinical profile of patients hospitalized with MS in the State of São Paulo, in the period from 2011 to 2021. Methods: This is an epidemiological, descriptive and retrospective study, with quantitative analysis, whose source of data was the Information System for Notifiable Diseases, from the Ministry of Health. The data were tabulated in graphs and tables using Microsoft Excel 2010. Results: 10,386 admissions of MS were reported in the state. Of the total cases, 67.4% occurred in females and 80.3% in race white. 43.5% of patients in the age group between 30 and 39 years. 94.4% were hospitalized on an elective basis. The average length of stay is between 3.3 days, with mortality rate representing 0.64% of the total. Conclusion: A higher prevalence was observed in the age range between 30 and 39 years and a predominance of hospitalizations among women. Although it is a disease with high morbidity and mortality, the mortality was low. It suggests that there are variables to be analyzed, such as a possible underreporting of this disease and also the advent of early diagnosis strategies and treatments that can modify the course of the disease, mitigating mortality.
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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 e 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.
Testo completoAbstract (sommario):
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.