Objective: To report the first de novo missense mutation in the SYT2 gene causing distal hereditary motor neuropathy. Methods: Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. We described the clinical and electrophysiological features found in the patient. Results: We reported a proband with a new de novo missense mutation, c.917C>T (p.Ser306Leu), in the C2B domain of SYT2. The clinical presentation was similar to that of phenotypes described in previous studies. A notable feature in our study was normal electrophysiological testing results of the patient. Conclusions: In this study we reinforced the association between SYT2 mutations and distal hereditary motor neuropathy. We also described the clinical presentation of the patient carrying this pathogenic variant and provided unusual results of electrophysiological testing. The results showed that a diagnosis of SYT2-associated neuropathy should be based on the similarity of clinical manifestations, rather than the results of electrophysiological testing.
Российская академия народного хозяйства и государственной службы при Президенте Российской Федерации (Северо-Западный институт управления РАНХиГС), Санкт-Петербург, Российская Федерация; geokefeli@mail.ru РЕФЕРАТ Статья посвящена информационному противоборству государств в современных условиях. Описаны подходы различных стран к информационному воздействию на внутриполитическую обстановку других государств и меры, предпринимаемые на техническом и законодательном уровне с целью противодействия данной угрозе. Введено понятие «информационный потенциал государства» и описаны его составляющие. Сделан вывод о том, что масштаб информационного противоборства государств напрямую зависит от факторов, коррелирующих с составляющими информационного потенциала государства. Использование введенного понятийного аппарата «информационный потенциал государства» является необходимым условием успешности проведения государственной политики в вопросах информационного противостояния.Ключевые слова: информационный потенциал, информационное общество, информационная политика, интеллектуальный потенциал, информационное противоборство ABSTRACT The article is devoted to the information confrontation of states in modern conditions. The approaches of various countries to the information impact on the internal political situation of other states and measures taken at the technical and legislative level in order to counter this threat are described. The concept of «information capacity of the state» is introduced and its components are described. It is concluded that the scale of the information confrontation of states depends on factors that correlate with the components of the information capacity of the state. The use of the introduced conceptual apparatus «information capacity of the state» is a necessary condition for the success of the state policy in matters of information confrontation.
Background. Idiopathic toe walking (ITW) in childhood is a benign age-dependent disorder of the normal walking formula.Objective: neurological, catamnestic and electromyographic analysis of patients with ITW.Materials and methods. The study group consisted of 59 patients aged 1 year 4 months to 15 years (mean age is 6.10 ± 3.54 years) with a predominance of males (76 %) and the onset of violations in the age of 4 years in 83 % of cases, a normal history and the absence of signs of organic neurological deficiency.Results and conclusions. As a result of differential diagnosis cerebral palsy, spastic paraplegia, peripheral neuropathy, myopathy and other diseases as possible causes of ITW were excluded. A high proportion of comorbid disorders of the neurotic spectrum in patients with ITW was determined, so tranquilizing and anxiolytic therapy was indicated in half of the patients. Electromyography doesn’t revealed pathology of peripheral neuromotor apparatus. Follow-up monitoring for 2–6 years, showed complete spontaneous regression of violations of the pattern of the walk at 84.8 % of the patients of 7–8 years of life. The formation of contractures of the ankle joint in 5 patients required operative correction. The issues of therapeutic tactics (gypsuming, orthosis of feet, botulinum toxin therapy, physiotherapy) were discussed. The absence of evidence-based effect of therapeutic measures is confirmed.
Представлен случай синдрома ригидного человека с доброкачественным течением у подростка 16 лет. Дебют заболевания отмечен в грудном возрасте в виде задержки темпов формирования моторных функций и уплотнений скелетных мышц. Диагноз сформулирован в соответствии с общепринятыми клиническими и электромиографическими критериями. Обсуждены вопросы дифференциального диагноза и патогенеза, полиморфизма течения заболевания в случаях ранней манифестации симптомов.
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