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Application of genetic testing criteria for hereditary breast cancer in South Africa.
Breast Cancer Res Treat
January 2025
Division of Human Genetics, Faculty of Health Sciences, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, South Africa.
Purpose: Breast cancer (BC) is the commonest cancer in South African women. A proportion are associated with a pathogenic or likely pathogenic (P/LP) variant in a BC susceptibility gene. Clinical guidelines for genetic testing are used to optimise variant detection while containing costs.
View Article and Find Full Text PDFReperfusion of Pulmonary Arteriovenous Malformations Treated by Catheter Embolization.
J Clin Med
December 2024
Clinic of Diagnostic and Interventional Radiology, Saarland University Medical Center, 66421 Homburg, Germany.
The aim of this study was to evaluate patients with hereditary hemorrhagic telangiectasia (HHT) for the potential reperfusion of pulmonary arteriovenous malformations (PAVM) treated by catheter embolization using coils or embolization plugs and to analyze causes of possible reperfusion in order to further improve treatment. This retrospective study analyzed the data of 345 patients who underwent screening for pulmonary arteriovenous malformations in cases of suspected or confirmed HHT (Osler's disease). Of these, 118 patients with PAVM that underwent catheter embolization and had at least one follow-up study were included in our study and evaluated for potential reperfusion.
View Article and Find Full Text PDFIncidence and Risk Factors for Hypertension among Children with Nephrotic Syndrome.
J Pediatr
December 2024
Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada; Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Women's College Hospital, Department of Medicine, Toronto Ontario, Canada; Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. Electronic address:
Objectives: To determine incidence and risk factors for hypertension in childhood nephrotic syndrome.
Study Design: Using data from the Insight into Nephrotic Syndrome (INSIGHT) study, a prospective observational childhood nephrotic syndrome cohort from Toronto, Canada, we evaluated hypertension incidence and time-to-hypertension overall and stratified by 1) steroid-resistance or steroid-sensitivity, and 2) frequently-relapsing, steroid dependent, or infrequently-relapsing. Hypertension was defined as stage 1-2 hypertensive blood pressure on two consecutive visits or anti-hypertensive medication initiation.
Impact of new-onset atrial fibrillation in patients with ST-segment elevation myocardial infarction.
J Interv Card Electrophysiol
December 2024
Department of Cardiology, University Hospital Basel, Petersgraben 4, 4031, Basel, Switzerland.
Background: New-onset atrial fibrillation (NOAF) complicating ST-segment elevation myocardial infarction (STEMI) remains clinically challenging. The aim of this study was to assess the incidence of NOAF, identify risk factors for the development of atrial fibrillation (AF), and analyze the impact on patient care, therapy, and outcomes during long-term follow-up.
Methods: This retrospective single-center study reviewed consecutive patients undergoing coronary angiography (CAG) for acute STEMI between May 2015 and September 2023.
Increased structural covariance of cortical measures in individuals with an at-risk mental state.
Prog Neuropsychopharmacol Biol Psychiatry
November 2024
Department of Neuropsychiatry, University of Toyama Graduate School of Medicine and Pharmaceutical Sciences, 2630 Sugitani, Toyama city, Toyama 930-0194, Japan; Research Center for Idling Brain Science, University of Toyama, 2630 Sugitani, Toyama city, Toyama 930-0194, Japan.
An anomalous pattern of structural covariance has been reported in schizophrenia, which has been suggested to represent connectome changes during brain maturation and neuroprogressive processes. It remains unclear whether similar differences exist in a clinical high-risk state for psychosis, and if they are associated with a prodromal phenotype and/or later psychosis onset. This multicenter magnetic resonance imaging study cross-sectionally examined structural covariance in a large at-risk mental state (ARMS) sample with different outcomes.
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