Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Remission during pregnancy of severe Chronic Hypertension due to 11-ß Hydroxylase Deficiency [PDF]
When hypertension is a result of an underlying identifiable abnormality, the latter's early discovery can lead to a timely cure of the hypertension and the prevention of its complications.
Attard, Gerhardt, Cachia, Mario J.
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Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Monocyte/HDL-cholesterol ratio as an early prognostic marker of pregnancy complications development [PDF]
Pregnancy complications increase the long-term cardiovascular risk for both the mother and the child. Inflammation is a common mechanism underlying the development of pregnancy complications and atherosclerosis. This study aims to investigate whether the
Vulić Jovana +8 more
doaj +1 more source
Factors associated with pregnancy complications during antenatal period: an extended GEE approach [PDF]
The purpose of the paper is to examine the factors affecting pregnancy complications during antenatal period of mothers. The study uses data which have been repeated over time i.e., the nature of the data is longitudinal in type.
Hossain, M.Z. +3 more
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Maternal zinc intakes and homeostatic adjustments during pregnancy and lactation. [PDF]
Zinc plays critical roles during embryogenesis, fetal growth, and milk secretion, which increase the zinc need for pregnancy and lactation. Increased needs can be met by increasing the dietary zinc intake, along with making homeostatic adjustments in ...
Donangelo, Carmen, King, Janet
core +2 more sources
ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley +1 more source
Investigating unintended pregnancy complications compared with intended pregnancy [PDF]
Title: Investigating unintended pregnancy complications compared with intended pregnancy Background: Based on new policies to increase the population and also the reduction of access to contraceptives compared to the past, the unintended pregnancy is
Mehrbakhsh, Malihe
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Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani +8 more
wiley +1 more source
Spontaneous Unruptured Bilateral Tubal Pregnancy: A Case Report
Bilateral spontaneous tubal ectopic pregnancy is the rarest form of extra uterine pregnancy. The diagnosis is usually made intraoperatively and levels of serum BHCG and ultrasound has not been useful in the diagnosis of bilateral tubal ectopic pregnancy.
Nayereh Ghomian, Marziyeh Lotfalizadeh
doaj

