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Moyamoya Syndrome in an Infant with Aicardi –Goutières and Williams Syndromes: A Case Report
We present the story of a 6-month-old Old Order Amish infant with underlying Williams syndrome, a rare neurodevelopmental disorder caused by a microdeletion, encompassing the elastin gene that produces abnormalities in elastic fibers of the lungs and vessels. This infant presented with lethargy, irritability, and a new-onset generalized tonic-clonic seizure. Brain magnetic resonance imaging (MRI) was consistent with ischemic stroke in the supratentorial regions. MR angiogram demonstrated bilateral narrowing of the internal carotid arteries with “ivy sign,” suggestive of Moyamoya. Moyamoya disease/syndrome is a cerebrov...
Source: Neuropediatrics - December 1, 2021 Category: Neurology Authors: Brar, Jagraj S. Verma, Rahul Al-Omari, Mohammed Siu, Victoria M. Andrade, Andrea V. Jurkiewicz, Michael T. Lalgudi Ganesan, Saptharishi Tags: Short Communication Source Type: research

What Types of Memory Impairments are There in Children?
Discussion Memory is an important part of what distinguishes higher order species from others. Memory also is part of one’s self-identity. Difficulties in short-term memory can make common, everyday tasks difficult for the person experiencing the problem particularly if it recently occurred and the person’s long-term memory is intact. Difficulties with long-term memory can also have problems when language, events or even one’s own identity are affected. For some people the memory loss is temporary but for others, memory impairments are permanent and must be accepted and accommodated as part of the overall...
Source: PediatricEducation.org - March 30, 2020 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

What Causes Microcephaly?
Discussion Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity. Severe microcephaly is used for OFC < 3 standard deviations. Rates of microcephaly range from 0.5-12 patients/10,000 live births. The OFC should be measured at every well child visit and at other opportunities and plotted on standard growth charts. The OFC is measured using a nonelastic tape measure around the largest part of the head with the tape measure held above the eyebrows and ears. It is a highly reproducible measurement. There are several diff...
Source: PediatricEducation.org - September 25, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Williams Syndrome
Williams syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Source: NINDS Disorders: National Institute of Neurological Disorders and Stroke - October 26, 2014 Category: Neurology Source Type: research

Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1 Vascular Stiffness
Williams syndrome is caused by the deletion of 26 to 28 genes, including elastin, on human chromosome 7. Elastin insufficiency leads to the cardiovascular hallmarks of this condition, namely focal stenosis and hypertension. Extrapolation from the Eln+/– mouse suggests that affected people may also have stiff vasculature, a risk factor for stroke, myocardial infarction, and cardiac death. NCF1, one of the variably deleted Williams genes, is a component of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex and is involved in the generation of oxidative stress, making it an interesting candidate mod...
Source: Hypertension - December 11, 2013 Category: Cardiology Authors: Kozel, B. A., Danback, J. R., Waxler, J. L., Knutsen, R. H., de las Fuentes, L., Reusz, G. S., Kis, E., Bhatt, A. B., Pober, B. R. Tags: Clinical genetics, Other Vascular biology Vascular Stiffness Source Type: research