Unlabelled: PURPOSE OF REVIEW Childhood: stroke is more common than brain tumor, but because there is a wide spectrum in terms of etiology and most centers see only a few cases every year, there have been few large studies of genetic and environmental risk factors until recently. This review focuses on the clinical and radiologic methodology required to distinguish phenotypes in patients, and it focuses on the available data on genetic predisposition.
Recent Findings: A number of conditions with Mendelian inheritance (eg, sickle cell disease) predispose to childhood stroke, but the search for epistatic polymorphisms that explain why some but not all of these patients are affected has been hampered by our poor understanding of the pathophysiology. Emergency vascular imaging, including arteriography and venography, will almost certainly assist with the description of stroke subtypes with different genetic predisposition in these patients and in the important group of children who were completely healthy before their stroke. Environmental exposure (eg, to infection, hypoxemia, and vitamins) may play a crucial role in modifying genetic expression and must be described carefully in prospective studies.
Summary: Now that much of the work on classifying stroke subtypes in children has been undertaken, international collaboration is likely to lead to identification of the genetic and environmental risk factors, and thus to primary and secondary prevention.
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http://dx.doi.org/10.1097/00008480-200312000-00002 | DOI Listing |
Medicina (Kaunas)
November 2024
Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Dysbiosis of the gastrointestinal tract is the most common cause of disease in childhood and adulthood. The formation of the intestinal microbiome begins in utero, and composition modification during life depends mainly on various genetic, nutritional, and environmental factors. The main cause of intestinal dysbiosis is improper nutrition due to a short period of breastfeeding, insufficient intake of fresh fruits and vegetables, and/or consumption of a large amount of processed food.
View Article and Find Full Text PDFJAMA Netw Open
December 2024
Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, Massachusetts.
Importance: Childhood adverse experiences have been linked with long-term risk of cardiovascular disease (CVD), yet the transgenerational associations between interparental behaviors and CVD remain poorly understood.
Objectives: To explore the association between exposure to childhood interparental physical violence and the subsequent risk of CVD and to examine whether the association is modified by adult depressive symptoms.
Design, Setting, And Participants: This population-based cohort study included data from the China Health and Retirement Longitudinal Study (CHARLS), an ongoing study recruiting individuals aged 45 years or older, dated between June 1, 2011, and December 31, 2020, with a follow-up duration of 9 years.
Int J Cancer
December 2024
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Cerebrovascular events (CVEs) are serious late adverse events among childhood cancer survivors. We estimated the incidence and risk factors of symptomatic CVEs and described the clinical characteristics among childhood cancer survivors after upper body radiotherapy. The Dutch Childhood Cancer Survivor Study LATER cohort study includes 5-year childhood cancer survivors diagnosed
Genet Med
December 2024
Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:
Purpose: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome or panel sequencing datasets aligned to a GRCh37, GRCh38, or T2T reference genome.
Methods: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs.
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