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Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Genome Med
December 2024
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD and MSA Rare Disease, Working Group, Paris, France.
Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.
View Article and Find Full Text PDFClinical and ultrasound characteristics in patients with sars-cov-2 pneumonia, associated with hospitalization prognosis. e-covid project.
BMC Pulm Med
December 2024
Centre d'Atenció Primària Onze de Setembre. Gerència Territorial de Lleida, Institut Català de La Salut, Passeig 11 de Setembre,10 , 25005, Lleida, Spain.
Background: During the COVID-19 pandemia, the imaging test of choice to diagnose COVID-19 pneumonia as chest computed tomography (CT). However, access was limited in the hospital setting and patients treated in Primary Care (PC) could only access the chest x-ray as an imaging test. Several scientific articles that demonstrated the sensitivity of lung ultrasound, being superior to chest x-ray [Cleverley J et al.
View Article and Find Full Text PDFIdentifying Settler Colonial Determinants of Indigenous Health Within the United States: A Discursive Paper.
Public Health Nurs
December 2024
School of Nursing, University of Wisconsin-Madison, Madison, Wisconsin, USA.
Aim(s): This discursive article aims to examine how systemic factors (both) reproduce the structure of settler colonialism and influence health outcomes among Indigenous peoples in the United States through settler colonial determinants of Indigenous health (SCDoIH).
Design: Discursive paper.
Methods: This discursive paper demonstrates how settler colonialism and health relate to each other within a nursing context.
The management of splanchnic vein thrombosis in acute pancreatitis: a global DELPHI consensus study.
HPB (Oxford)
December 2024
Health Services Research Unit, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, UK; Department of Surgery, Dr Gray's Hospital, Elgin, IV30 1SN, UK; HPB Surgery Unit, East Lancashire Teaching Hospitals, England, BB2 3HH, UK; Integrated Centre of HPB Care, Elite Hospital, Alexandria, Egypt.
Background: Splanchnic vein thrombosis (SpVT) occurs in 17%-23 % of acute pancreatitis cases. Serious sequelae include hepatic and bowel ischaemia. However, management with therapeutic anticoagulation remains controversial due to potential bleeding risk.
View Article and Find Full Text PDFAssociation between phosphate and 30-day in-hospital mortality in paediatric ICU: a retrospective cohort study.
BMJ Paediatr Open
December 2024
Jinan University, Guangzhou, Guangdong, China
Background: Death rates in the intensive care unit (ICU) and paediatric ICU (PICU) are approximately 10.8% and 9.13%, respectively.
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