Results 81 to 90 of about 5,693,843 (277)

Expert Consensus on the Management of Obesity in Older Adults (2026 Edition)

AGING MEDICINE, EarlyView.
This graphical abstract summarizes a safety‐first framework for managing obesity in older adults, with attention to age, functional status, comorbidities, and sarcopenia risk. Key assessments include BMI, waist measures, body fat percentage, skeletal muscle mass, and comprehensive geriatric evaluation. Management prioritizes reducing visceral fat while
Qi Pan, Lixin Guo
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

The Danish national type 2 diabetes cohort – the DD2 study

Clinical Epidemiology, 2012
Henrik Toft Sørensen,1 Søren Friborg,2 Jørgen Rungby,3 Jens Sandahl Christensen,4 Allan Vaag,5 Henning Beck-Nielsen61Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, 2Department of Endocrinology M,
Sørensen HT, Friborg S, Rungby J, Christiansen JS, Vaag A, Beck-Nielsen H   +5 more
doaj  

THBS1 identificated as an endometriosis biomarker through evidence from single-cell and bulk transcriptomic profiling

iScience
Summary: Endometriosis affects a substantial number of women of reproductive age, yet current diagnostic methods rely on invasive procedures. To address this limitation, we investigated THBS1 as a potential biomarker and regulator of disease progression.
Liqi Zhang, Junyan Ma, Yuhui Sun, Jue Zhu, Huaqing Yan, Yichen Chen, Jing Zhang   +6 more
doaj   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Online case-based learning to enhance pediatric endocrinology resident education

BMC Medical Education
Background While much of medical resident trainee exposure to pediatric endocrinology is geared towards hospital-based management of hyperglycemic urgencies and emergencies, the American Board of Pediatrics certification exam and trends within pediatric ...
William Freeman, Andrew Kanouse, Graeme R Frank   +2 more
doaj   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Down-regulation of the histone methyltransferase EZH2 contributes to the epigenetic programming of decidualizing human endometrial stromal cells [PDF]

, 2011
Differentiation of human endometrial stromal cells (HESC) into decidual cells represents a highly coordinated process essential for embryo implantation. We show that decidualizing HESC down-regulate the histone methyltransferase enhancer of Zeste homolog
Poutanen, Matti, Henriet, Patrick, Giulia Grimaldi, Poutanen, Matti,, Steel, Jennifer H., Steel, Jennifer H, Jan J. Brosens, Matti Poutanen, Brosens, Jan J., Christian, Mark, Brosens, Jan J, Mark Christian, Grimaldi, Giulia, Jennifer H. Steel, Patrick Henriet   +14 more
core   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source