Review of Neurological Clinics. Exercises in the Diagnosis of Diseases of the Nervous System.

1921 ◽  
Vol 16 (1) ◽  
pp. 72-72
Author(s):  
Meyer Solomon
Keyword(s):  
Nervous System ◽  
Diagnosis Of Diseases

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.

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.

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