Results 71 to 80 of about 46,872 (257)

POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management

American Journal of Hematology, EarlyView.
ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Penile gangrene in diabetes mellitus with renal failure: A poor prognostic sign of systemic vascular calciphylaxis

Indian Journal of Urology, 2007
Penile gangrene associated with chronic renal failure is very uncommon. A 52-year-old man with diabetes mellitus, diffuse atherosclerosis, ischemic cardiomyopathy and end-stage renal disease presented with blackening of distal penis for 10 days.
Mayank Mohan Agarwal, Shrawan K Singh, Arup K Mandal   +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

Obstructive Uropathy because of a Large Rectus Sheath Haematoma: A Case Report of Combined Interventional Radiology and Surgical Approach

EJVES Short Reports, 2017
: Introduction: Rectus sheath haematomas associated with anticoagulation are often self limiting. When large, however, they can even extend into the pelvis and cause compression of adjacent organs such as the bladder.
A. Gangemi, H.N. Mashbari, J.T. Bui
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Segmental Renal Infarction Associated with Accessory Renal Arteries After Para-Aortic Lymphadenectomy in Gynecologic Malignancies

Medicina
Background and Objectives: The causes and clinical outcomes of renal perfusion abnormalities occurring after para-aortic lymphadenectomy (PANDx) for gynecologic malignancies are unknown. We investigated the potential involvement of accessory renal artery
Ayumi Kozai, Shintaro Yanazume, Fumitaka Ejima, Shuichi Tatarano, Yusuke Kobayashi, Rintaro Kubo, Shinichi Togami, Takashi Yoshiura, Hiroaki Kobayashi   +8 more
doaj   +1 more source

Analysis of energy expenditure and behavioral characteristics in different mouse strains under normal and disease conditions

Animal Models and Experimental Medicine, EarlyView.
Mouse metabolic and behavioral phenotypes are tightly linked to strain, age and disease state, with distinct dysregulation in each disease model, underscoring the need for standardized preclinical experimental conditions. Abstract Background Metabolic and behavioral traits in mice exhibit substantial variability across strains, ages, and disease states,
Jiacheng Zeng, Yuanjun Ji, Yan Zou, Jing Tan, Teng Wu, Conghui Shen, Tongsheng Huang, Shijie Xiong, Mengying Liu, Maoquan Yang, Jingwei Lai, Jiangwei Ma, Junhong Wan, Xinlu Fu, Jiang Qian, Hui Li, Ludong Yuan, Weibin Cai   +17 more
wiley   +1 more source

Tunable Regional Targeting of Self‐Assembling Peptide Nanomaterials in Acute Myocardial Infarction

Advanced NanoBiomed Research, EarlyView.
In a rat model of acute myocardial infarction, intravascular delivery of peptide nanofibers with a collagen‐targeting peptide bound to the infarct vasculature while globular peptide nanoparticles penetrated into the infarct area. This study demonstrated that size, shape, and surface chemistry of nanomaterials control the delivery location within the ...
Alexander Chen, Michael B. Nguyen, Elliot Widd, Julian Cheng, Benjamin D. Bridgelal, Kate E. Reimold, Selena Cao, Connor Uhre, Houston Harding, Chloe Hurteau, Anika Yogi, Colin Luo, Rebecca L. Braden, Pedro Cabrales, Karen L. Christman   +14 more
wiley   +1 more source