Results 91 to 100 of about 75,003 (261)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Contemporary management of pain in cirrhosis: Toward precision therapy for pain

Hepatology, EarlyView., 2022
Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman, Neehar Parikh, Dan J. Clauw, David A. Williams, Elliot B. Tapper   +4 more
wiley   +1 more source

The biophysical bases of will-less behaviours

Frontiers in Integrative Neuroscience, 2012
Are there distinctions at the neurophysiological level that correlate with voluntary and involuntary actions? Whereas the wide variety of involuntary behaviours (and here mostly the deviant or pathological ones will be considered) will necessarily be ...
Jose Luis ePerez Velazquez
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

دور الأفلام السينمائية المصرية والأجنبية في تشكيل وعي الشباب المصري نحو الاضطرابات النفسية والعصبية [PDF]

المجلة المصرية لبحوث الإعلام
تهدف هذه الدراسة إلى استكشاف دور الأفلام السينمائية المصرية والأجنبية في تشكيل وعي الشباب المصري بمتلازمة اليد الفوضوية ، ومدى ارتباط الصورة المقدمة في هذه الأفلام بالحقائق العلمية.
سارة عبدالعزيز مصطفي, سعاد ممدوح عبدالفتاح, علي خالد الشباسي, عمر صابر مكرم, مي خليل حسن   +4 more
doaj   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Supplementary motor complex and disturbed motor control – a retrospective clinical and lesion analysis of patients after anterior cerebral artery stroke

Frontiers in Neurology, 2015
Background: Both the supplementary motor complex (SMC), consisting of the supplementary motor area (SMA)-proper, the pre-SMA and the supplementary eye field, and the rostral cingulate cortex (ACC) are supplied by the anterior cerebral artery (ACA) and ...
Florian eBrugger, Florian eBrugger, Marian eGalovic, Bruno J. Weder, Bruno J. Weder, Georg eKägi   +5 more
doaj   +1 more source

Alien hand syndrome without a corpus callosum lesion.

, 1995
A 58 year old right handed woman developed a left alien hand syndrome after a right capsulothalamic haemorrhage with mesencephalic extension. No lesion was detected in the corpus callosum.
Ventura, M G, Goldman, Serge, Hildebrand, Jerzy   +2 more
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