Results 91 to 100 of about 4,015,826 (369)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone, Claudia Rigamonti, Francesca Brasca, Donatella Milani, Chiara Ranci Ortigosa, Maria Iascone, Lucrezia Goisis, Annalaura Torella, Maria Antonella Costantino   +8 more
wiley   +1 more source

Comparative effectiveness and safety of oral anticoagulants in patients with atrial fibrillation using antiarrhythmic drugs: An international cohort study

British Journal of Clinical Pharmacology, EarlyView.
Aim Our international cohort study assessed the comparative effectiveness and safety of direct oral anticoagulants (DOACs) and vitamin K antagonists (VKAs) among patients with non‐valvular atrial fibrillation (NVAF) using antiarrhythmic drugs. Methods Using the United Kingdom's (UK's) Clinical Practice Research Datalink Aurum and Québec claims data, we
Fabian Maximilian Meinert, Jenny Dimakos, Ying Cui, Kristian B. Filion, Christel Renoux, Antonios Douros   +5 more
wiley   +1 more source

Abdominal obesity and cardiovascular risk: performance of anthropometric indexes in women.

Arquivos Brasileiros de Cardiologia, 2009
BACKGROUND Anthropometric indicators of abdominal obesity (AOB) estimate the amount of visceral fat tissue which, in turn, is associated with a higher risk of development of cardiovascular diseases.
Rogério Tosta de Almeida, M. M. G. D. Almeida, Tânia M Araújo   +2 more
semanticscholar   +1 more source

Mechanism‐informed machine learning for individualized tacrolimus dose adjustment in the early post‐kidney transplant period

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Tacrolimus dosing in the early post‐kidney transplant period is challenging due to a narrow therapeutic index and substantial interindividual pharmacokinetic (PK) variability. This study aimed to develop and validate mechanism‐informed machine learning (ML) models to support individualized tacrolimus dosing during this critical period ...
Hui Yu, Zihan Qin, Logan S. Smith, Jeong M. Park, Hao‐Jie Zhu   +4 more
wiley   +1 more source

Anthropometric measures: an original and effective OSA screening index [PDF]

Journal of Clinical Sleep Medicine, 2021
Zhenzhen, Zheng, Riken, Chen, Cheng, Hong, Nuofu, Zhang   +3 more
openaire   +2 more sources

Adipocytes in Aortic Stenosis: Association With Clinical and Morphological Indices

Clinical Anatomy, EarlyView.
ABSTRACT Recently, great attention has been given to understanding the new pathogenetic mechanisms underlying aortic stenosis (AS). The study aims to understand the role of mature adipocytes in AS and their association with histologic, clinical, and echocardiographic data, an area previously overlooked in AS research.
Elena Zoico, Tanaz Saatchi, Silvia Urbani, Vanni Rizzatti, Gloria Mazzali, Francesco Fantin, Silvia Faccioli, Alessandro Gavras, Mauro Zamboni, Anna Giani   +9 more
wiley   +1 more source

The effects and predictive values of novel anthropometric parameters on uric acid levels and hyperuricemia in adults

Scientific Reports
Novel anthropometric indices are more closely related to metabolic abnormalities than traditional anthropometric indices. Fewer studies have been conducted based on the relationship between novel anthropometric indicators and hyperuricemia.
Li Hongwei, Shen Zhenhai, Jiang Wei, Jia Bing, Li Shaolei, Zhang Ping, Wang Liuyu, Yuan Peng, Lu Yun   +8 more
doaj   +1 more source

Retinal micro-vascular and aortic macro-vascular changes in postmenopausal women with primary hyperparathyroidism [PDF]

, 2018
Aim of the study was to evaluate the micro and macro-vascular changes in patients with primary hyperparathyroidism (PHPT) compared to controls. 30 postmenopausal PHPT women (15 hypertensive and 15 normotensive) and 30 normotensive controls underwent ...
Biamonte, Federica, Cipriani, Cristiana, Colangelo, Luciano, Curione, Mario, Minisola, Salvatore, Parravano, Mariacristina, Pepe, Jessica, Tedeschi, Massimiliano, Varano, Monica   +8 more
core   +2 more sources

Lipid Profile Differences in HIV‐Infected Populations With Metabolic Dysfunction‐Associated Steatotic Liver Disease: A Systematic Review and Meta‐Analysis

Chronic Diseases and Translational Medicine, EarlyView.
PRISMA study flow diagram. ABSTRACT Introduction Advances in HIV management have transformed HIV into a chronic condition, resulting in improved prognosis and increased survival among people living with HIV (PLWH). Traditional risk factors for metabolic dysfunction‐associated steatotic liver disease (MASLD)—including dyslipidemia—are prevalent in PLWH.
Yovita Hartantri, Sherly Lawrensia, Steven Yulius Usman, Nenny Agustanti, Rudi Wisaksana, Nanny Natalia Mulyani Soetedjo, Bachti Alisjahbana   +6 more
wiley   +1 more source