Results 81 to 90 of about 2,352,806 (292)

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

Peel-off resection of the pituitary gland for functional pituitary adenomas: pathological significance and impact on pituitary function [PDF]

, 2019
Purpose: Functional pituitary adenomas (FPAs) lacking a well-defined pseudocapsule can invade the adjacent pituitary gland. In such situations, peel-off resection of the adjacent pituitary gland after selective adenomectomy might lead to complete tumor ...
Takeuchi, Kazuhito, Wakabayashi, Toshihiko, Ishikawa, Takayuki, Kawabata, Teppei, Inoshita, Naoko, Shimoyama, Yoshie, Nagata, Yuichi, Yamamoto, Taiki   +7 more
core   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

A Comparison of Frailty Indices in Predicting Postoperative Outcomes After Endoscopic Sinus Surgery

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective To compare the discriminatory performance of the Risk Analysis Index (RAI) and modified Frailty Index‐5 (mFI‐5) in predicting postoperative outcomes following endoscopic sinus surgery (ESS). Study Design Retrospective cohort study. Methods Adult ESS patients were identified from the ACS‐NSQIP database (2005–2020).
Akshay Warrier, David Remyes, Tenesha Boyd, Ailish Nagpal, Aman M Patel, David W. Wassef, Jean Anderson Eloy   +6 more
wiley   +1 more source

Notch signaling and cell cycle inhibitor regulation in pituitary organogenesis [PDF]

, 2011
The pituitary is plastic organ whose hormone cell number can fluctuate depending on physiologic need. Alterations in pituitary cell expansion can lead to disorders such as pituitary hyperplasia or tumors, which have a high prevalence in the human ...
Monahan, Pamela
core  

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

Non-functioning pituitary carcinoma

, 2004
Null-cell carcinomas of the pituitary are extremely rare. We describe a 41-year-old woman with a large adenohypophyseal neoplasm presenting as a primary nonfunctioning tumor without pituitary insufficiency.
Gomez, F., De Tribolet, N., Meagher-Villemure, K., Pica, A., Imboden, P. N., Borruat, F. X.   +5 more
core   +1 more source

Microbial‐Metabolite Signatures Are Associated With Glucocorticoid Responsiveness in Chronic Rhinosinusitis With Nasal Polyps

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) exhibit heterogeneous responses to oral glucocorticoids (GCs), but the biological basis of this variability remains unclear. Objective To identify gut microbiome‒plasma metabolomic signatures associated with GC responsiveness in CRSwNP patients and to compare their ...
Ying‐Ying Zhang, Xin‐Yu Ding, Mei‐Ping Lu, Yan‐Bing Chen, Ye Yuan, Lin Jiang, Min Zhang, Lei Cheng   +7 more
wiley   +1 more source

Emerging human cell-based in vitro models for studying pituitary development and disorders

Endocrine Journal
The pituitary gland plays a central role in maintaining physiological homeostasis by secreting multiple hormones that regulate diverse body functions.
Ryusaku Matsumoto, Ayaka Nishio, Yutaka Takahashi, Takuya Yamamoto   +3 more
doaj   +1 more source

Poly(I:C)‐Activated Nasal Fibroblasts Promote Eosinophil Recruitment in CRSwNP

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is characterized by persistent mucosal inflammation and eosinophilic infiltration. Although epithelial and immune cells have been widely studied, the role of nasal fibroblasts in innate immune activation and eosinophil recruitment remains unclear.
Chaewon Shin, An‐Gi Kim, Byeong Min Yu, Woo‐Keun Kwon, Min‐Ho Hwang, Joo‐Hoo Park   +5 more
wiley   +1 more source