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Thick skin and thicker arteries: case report on a rare cause of hypertension.
Pediatr Nephrol
January 2025
Department of Paediatric Nephrology, Christian Medical College, Vellore, India.
Renovascular hypertension is the second leading cause of hypertension. Twenty-seven genes have been attributed to monogenic renovascular hypertension at present. We present a 15-year-old boy with facial dysmorphism, thick skin and renovascular hypertension with a novel gain-of-function variant in SMAD4 gene suggesting Myhre syndrome.
View Article and Find Full Text PDFSMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.
Am J Med Genet A
January 2025
Medical Genetics and Genomic Medicine-Department of Translational Medicine, School of Medical Sciences, Campinas, Brazil.
Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of the patients have had de novo variants. There are several instances of autosomal dominant inheritance, and penetrance appears to be complete.
View Article and Find Full Text PDFMyhre syndrome: case report.
Med Clin (Barc)
January 2025
Unidad de Genética Clínica, Servicio de Medicina Interna, Hospital Universitario Príncipe de Asturias, Universidad de Alcalá, Alcalá de Henares (Madrid), España.
Caudate nucleus volume in medicated and unmedicated patients with early- and adult-onset schizophrenia.
Sci Rep
October 2024
Department of Psychiatric Research, Diakonhjemmet Hospital, Forskningsveien 7, 0373, Oslo, Norway.
The caudate nucleus is a part of the striatum, and striatal hyperdopaminergia is considered central to the pathophysiology of schizophrenia. How caudate volume is affected in schizophrenia and what role antipsychotics play remains unclear. In early-onset schizophrenia (EOS), where psychosis emerges during a neurodevelopmentally critical phase, the caudate may exhibit a heightened vulnerability to the effects of antipsychotic medications.
View Article and Find Full Text PDFAn organisation working mainly reactively instead of proactively: a qualitative study of how frail users of home care services and their next of kin experience crises.
BMC Health Serv Res
September 2024
The Research Centre for Age-related Functional Decline and Disease, Innlandet Hospital Trust, Ottestad, Norway.
Background: Frail people receiving home care services face an increased risk of developing crisis, which can result in adverse events, coercive measures, and acute institutionalisation. The prevalence of frailty is expected to increase due to the ageing population in most countries. However, our knowledge of the process leading to crises among frail community-dwelling patients remains limited.
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