Genome sequencing in patients with likely hereditary diseases of the nervous system

2020 ◽  
pp. 55-56
Author(s):  
И.В. Канивец ◽  
К.В. Горгишели ◽  
В.Ю. Удалова ◽  
А.А. Шарков ◽  
Д.В. Пьянков ◽  
...  
Keyword(s):  
Nervous System ◽  
Genome Sequencing ◽  
Heterogeneous Group ◽  
Gene Panel ◽  
Hereditary Diseases ◽  
Genetic Causes ◽  
Diagnosis Of Diseases

Технологии секвенирования нового поколения (NGS) имеют важное значение в диагностике заболеваний нервной системы. Преимуществом их использования является широкий охват исследуемых генов, что позволяет повысить выявляемость причин в такой клинически и генетически гетерогенной группе заболеваний. Цель настоящей работы - определить эффективность секвенирования генома для выявления генетических причин у пациентов с вероятно наследственными заболеваниями нервной системы. В нашем исследовании секвенирование генома позволило выявить причину заболевания у 28,6% таких пациентов. При отрицательном результате анализа панели генов секвенирование генома позволило выявить причину заболевания у 9% пациентов. NGS-based technologies play an important role in the diagnosis of diseases of the nervous system. The advantage of their using is the wide coverage of the analyzed genes, which allows to increase the detection of causes in such a clinically and genetically heterogeneous group of diseases. The purpose of this work is to determine the effectiveness of genome sequencing to identify genetic causes in patients with likely hereditary diseases of the nervous system. In our study, genome sequencing revealed the cause of the disease in 28.6%. In cases with a negative result from the analysis of the gene panel, genome sequencing revealed the cause of the disease in 9% of patients.

Diagnostic potential of a 'mouse azoospermia' gene panel in human azoospermia: identification of novel genetic causes of meiotic arrest

2019 ◽  
Author(s):  
Antoni Riera-Escamilla ◽  
Andrea Enguita-Marruedo ◽  
Daniel Moreno-Mendoza ◽  
Chiara Chianese ◽  
Eduard Ruiz-Castane ◽  
...  
Keyword(s):  
Gene Panel ◽  
Meiotic Arrest ◽  
Genetic Causes ◽  
Diagnostic Potential

scholarly journals GENETIC DIAGNOSTICS AND CLINICAL FEATURES OF WILSON’S DISEASE IN CHILDREN

2020 ◽  
Vol 2 ◽  
pp. 3-9
Author(s):  
Ivanna Haiboniuk ◽  
Marta Dats-Opoka ◽  
Halyna Makukh ◽  
Yaryna Boyko ◽  
Igor Kiselyk
Keyword(s):  
Nervous System ◽  
Genetic Analysis ◽  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Wilson's Disease ◽  
Hereditary Diseases ◽  
Genetic Diagnostics ◽  
Atp7b Gene ◽  
Hepatobiliary System ◽  
Child Age

A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thriphospate P-type gene (ATP7B), results in irreversible changes in the liver and in the nervous system. Mortality is high at WD, but it is one of hereditary diseases, well subjected to the therapy. The disease is manifested in the early age, but its clinical course in children is symptomless that essentially complicates diagnostics. A single reliable method is genetic analysis for revealing mutations in ATP7B gene. The aim of the work was to analyze clinical manifestations and course of Wilson’s disease cases, genetically verified in children by detecting mutations of ATP7B gene. The research group included children of 6-17 years old with different injury degrees of the hepatobiliary system. According to results of the molecular-genetic analysis, the most spread allele variant of ATP7B gene (H1069Q) in Europe was confirmed in 10 patients of child age, including 4 cases of homozygosity. In 10 cases of the confirmed diagnosis of Wilson’s disease in child age in 100% (in all 10) of persons, a clinical manifestation was characterized by disorders from the hepatobiliary system, and only in 1 (10 %) – changes from the nervous system. At raising the level of transaminase in children, even at the normal bilirubin level and negative tests for viral hepatitis, it is recommended to carry out genetic testing for Wilson’s disease

scholarly journals Pioneers in the cisterna magna puncture

2020 ◽  
Vol 78 (3) ◽  
pp. 176-178
Author(s):  
Thiago Ferreira Simões DE SOUZA
Keyword(s):  
Central Nervous System ◽  
Cerebrospinal Fluid ◽  
Nervous System ◽  
Clinical Applications ◽  
Alternative Route ◽  
Cisterna Magna ◽  
Relative Safety ◽  
The Central Nervous System ◽  
Promising Source ◽  
Diagnosis Of Diseases

Abstract At the beginning of the 20th century, cerebrospinal fluid (CSF) collection and analysis emerged as a promising aid in the diagnosis of diseases of the central nervous system. It was obtained through the established procedure of lumbar puncture, described by Heinrich Quinke in 1891. The search for an alternative way to gather the CSF emerged in animal research, highlighting the cisterna magna as a promising source, with relative safety when performed by someone trained. Described initially and in detail by James Ayer in 1920, the procedure was widely adopted by neurologists and psychiatrists at the time, featuring its multiple advantages and clinical applications. After a period of great procedure use and exponential data collection, its complications and risks relegated the puncture of the cisterna magna as an alternative route that causes fear and fascination in modern Neurology.

Genetic and Epidemiologic Analysis of Hereditary Diseases of the Nervous System in the Cities of Volgograd and Volzhsky

2004 ◽  
Vol 40 (9) ◽  
pp. 1031-1035
Author(s):  
N. B. Kirilenko ◽  
V. P. Fedotov ◽  
N. V. Baryshnikova ◽  
E. L. Dadali ◽  
A. V. Polyakov ◽  
...  
Keyword(s):  
Nervous System ◽  
Hereditary Diseases ◽  
Epidemiologic Analysis

Malformation of the Brain, Skull, and Spine

2021 ◽  
pp. 1057-1070
Author(s):  
Lily C. Wong-Kisiel
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Developmental Delay ◽  
Abnormal Development ◽  
Gene Expressions ◽  
Common Cause ◽  
Genetic Causes ◽  
The Central Nervous System ◽  
The Brain ◽  
Central Nervous System Malformation

Abnormal development of the central nervous system is a common cause of developmental delay and epilepsy. An understanding of central nervous system malformation begins with an overview of normal embryology. Genetic advances in embryogenesis have unfolded a complex orchestration of gene expressions in place of the traditional developmental epochs (induction, neurulation, proliferation, migration, organization, synaptogenesis, and myelination). Causes of malformation of the central nervous system are multifactorial. Genetic causes, vitamin excess or deficiency, infections, or teratogens any time during pregnancy may disturb the preprogrammed mechanisms.

Nozological Spectrum of Hereditary Diseases of the Nervous System in the Cities of Volgograd and Volzhsky

2004 ◽  
Vol 40 (9) ◽  
pp. 1036-1040 ◽  
Author(s):  
N. B. Kirilenko ◽  
V. P. Fedotov ◽  
N. V. Baryshnikova ◽  
E. L. Dadali ◽  
A. V. Polyakov
Keyword(s):  
Nervous System ◽  
Hereditary Diseases

scholarly journals Corrigendum. Sequencing of a ‘mouse azoospermia’ gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest

2020 ◽  
Vol 35 (8) ◽  
pp. 1945-1946
Author(s):  
A Riera-Escamilla ◽  
A Enguita-Marruedo ◽  
D Moreno-Mendoza ◽  
C Chianese ◽  
E Sleddens-Linkels ◽  
...  
Keyword(s):  
Gene Panel ◽  
Meiotic Arrest ◽  
Genetic Causes
Sign in / Sign up

Export Citation Format

Share Document