Results 31 to 40 of about 50,714 (241)

Establishment of the endocrine variant extractor and its clinical application in identifying a novel GATA3 mutation in HDR syndrome

Frontiers in Endocrinology
BackgroundGenetic diagnosis of endocrine disorders is often hampered by the complexity of analyzing Whole Exome Sequencing (WES) data. We developed the endocrine variant extractor (EVE), a streamlined, clinician-friendly bioinformatics pipeline designed ...
Yunseo Han, Yunseo Han, Danbi Song, Minsoo Noh, Minsoo Noh, Mikyung Kang, Mikyung Kang, Young Sil Eom, Hunsang Lee, Hunsang Lee, Sihoon Lee, Sihoon Lee   +11 more
doaj   +1 more source

Rheumatologic Manifestations of Patients With Type B Insulin Resistance

Arthritis Care &Research, EarlyView.
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya, Sandra G. Williams, Raphael A. Kirou, Marissa Lightbourne, Rebecca J. Brown   +4 more
wiley   +1 more source

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

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

Estimating global prevalence of gallbladder stones in general population from 2000 to 2024: systematic review and meta-analysis

Annals of Medicine
Background Gallbladder stones (GS), is one of the most common and costly of all the gastrointestinal diseases. However, global prevalence estimates of GS remain heterogeneous due to methodological variations across studies, and consensus on risk factor ...
Qingyang Ning, Fen Liu, Yiqiao Fang, Xixi Zhu, Jiaye Liu, Zhihui Li   +5 more
doaj   +1 more source

Parathyroid hemangioma

Autopsy and Case Reports, 2021
Background: Hemangiomas are benign neoplasms of capillary proliferation that arise from a developmental anomaly where angioblastic mesenchyme fails to form canals.
Odille Mejia, Hisham F. Bahmad, Kei Shing Oh, Juan C. Paramo, Robert Poppiti   +4 more
doaj  

The relationship between serum 25-hydroxyvitamin D and parathyroid hormone concentration in assessing vitamin D deficiency in pet rabbits

BMC Veterinary Research, 2020
Background Vitamin D deficiency and related metabolic bone diseases in pet rabbits have been intermittently debated. In human research, the parathyroid hormone concentration in relation to the 25-hydroxyvitamin D concentration is used to determine ...
J. Mäkitaipale, S. Sankari, H. Sievänen, O. Laitinen-Vapaavuori   +3 more
doaj   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Biologic and Targeted Synthetic Disease‐Modifying Antirheumatic Drugs Do Not Arrest Bone Loss in Patients With Rheumatoid Arthritis: A Long‐Term Multicenter Observational Study

Arthritis &Rheumatology, EarlyView.
Objective Osteoporosis causes fractures that further increase the disease burden of rheumatoid arthritis (RA); however, osteoporosis treatment rates remain low. Although several studies have reported that biologic or targeted synthetic disease‐modifying antirheumatic drugs (b/tsDMARDs) can prevent or improve osteoporosis in RA, our large‐scale, real ...
Takafumi Aritomi, Koshiro Sonomoto, Shingo Nakayamada, Hiroaki Tanaka, Atsushi Nagayasu, Satoshi Kubo, Ippei Miyagawa, Ayako Yamaguchi, Naoaki Ohkubo, Yasuyuki Todoroki, Yurie Satoh‐Kanda, Masanobu Ueno, Ryuichiro Kanda, Yuya Fujita, Masashi Funada, Hidenori Sakai, Satsuki Matsunaga, Hiroaki Tanaka, Masayuki Shinojima, Hiroki Kawamura, Kazuki Takahashi, Miyabi Ando, Kazuki Haru, Yusuke Miyazaki, Kentaro Hanami, Masao Nawata, Shunsuke Fukuyo, Keisuke Nakatsuka, Mikiko Tokunaga, Kazuyoshi Saito, Yoshiya Tanaka   +30 more
wiley   +1 more source

Clinical suspicion and parathyroid carcinoma management

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: Adequate management of parathyroid carcinoma apparently relates to the surgeon’s ability to identify it at the first operation.
Fabio Luiz de Menezes Montenegro, Marcos Roberto Tavares, Marcelo Doria Durazzo, Claudio Roberto Cernea, Anói Castro Cordeiro, Alberto Rosseti Ferraz   +5 more
doaj   +1 more source