The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), presenting with spinocerebellar ataxia, dysarthria, nystagmus, and paraparesis, is a gradually progressive hereditary disease. Sensorimotor polyneuropathy may also accompany the symptoms. Herein, we present electrophysiologic findings Turkish family ARSACS in combination clinical genetic features to better describe characte...

Background: Myopathies are a group of neuro muscular diseases that cause muscle weakness, cramps, and spasms due to primary defect the fiber. We undertook this study hereditary disorders identify clinical patterns laboratory findings in these conditions correlation between them, which will help recognizing them early for adequate management with rehabilitation measures prognostication. Aim: To ...

Motivation: Information in life science publications is heterogeneously distributed over various sections. Depending on research questions, different sections cover more or less of the data needed to answer them. Our approach, called section weighting, seeks to make use of information coverage and density found in typical life science publications. We study the impact of section weighting on te...

Platelet functional disorders are on the increase. The basic platelet functions are a continuous process starting when the vessel wall is injured. The three phases are 1 Initiation 2 Extension and 3 consolidation After these phases, a stable platelet plug is formed. Disorders of platelet function arise due to hereditary and acquired defects in the various steps of these functional phases. Acqui...

A.N AREA of significant medical progress over the past decade has been the recognition and the biochemical characterization of an ever-increasing number of human hereditary diseases (1). Some of the practical consequences have been the development of objective chemical and biochemical methods for more precise diagnoses of a large number of these diseases (many of them newly recognized) and the ...

MODERN GENETICIST and his genetically oriented colleagues in 1Thi#{246}#{227}I medicine and biochemistry now believe that all inherited metabolic variations arise from alterations in the biochemical composition of the organism; it is assumed that these alterations are the direct result of variations in the gene or genes which determine the synthesis of a specific protein molecule. Some well-kno...

Background: Neonatal thrombotic diseases can cause mortality or serious morbidity and disability.Case report: In this report, we present a case of neonatal inferior vena cava thromboembolism with several underlyingfactors. Hereditary thrombophilia and genetic mutation in plasminogen activator inhibitor-1 and MTHFR A1298C genesin conjunction with cleft palate resulted in poor l...