Results 121 to 130 of about 1,479,001 (304)

Estudo clínico e molecular da doença renal policística autossômica dominante em duas famílias [PDF]

, 2000
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.Objetivos: Verificar a associação de variáveis clínicas para insuficiência renal crônica e a origem da mutação gênica em duas famílias portadoras de Doença Renal
Dias, Tânia Lúcia Viana
core  

Chinese Expert Consensus on the Clinical Application of Finerenone in Geriatric Comorbidities

AGING MEDICINE, EarlyView.
Mineralocorticoid receptor (MR) overactivation drives inflammation, oxidative stress, and fibrosis in the heart, kidneys, and vasculature, leading to cardiorenal dysfunction. MR signaling promotes hypertrophy, remodeling, and injury through pathways like oxidative stress and inflammation, resulting in vascular stiffness and progressive organ damage ...
Xiaoming Wang, Cuntai Zhang
wiley   +1 more source

Comparison of Minimally Invasive Colectomy Between Intra‐ Versus Extra‐Corporeal Anastomosis Technique (COMMIT Study): Short‐Term Analysis

Annals of Gastroenterological Surgery, EarlyView.
This multicenter propensity score‐matched study of 3213 patients compared intracorporeal (IA) and extracorporeal (EA) anastomosis during minimally invasive colectomy. IA was associated with a significantly lower incidence of intraoperative blood loss ≥ 200 mL (2.5% vs.
Takuya Takami, Takehito Yamamoto, Yoshiro Itatani, Ryosuke Mizuno, Kae Okoshi, Yasunori Deguchi, Keiji Nagata, Tomoaki Okada, Rei Mizuno, Kazutaka Obama   +9 more
wiley   +1 more source

Preoperative FIB‐4 Index as a Potential Factor Associated With Severe Postoperative Complications and Endogenous Organ Failure After Hepatectomy for Hepatocellular Carcinoma

Annals of Gastroenterological Surgery, EarlyView.
This study demonstrates that a preoperative FIB‐4 index ≥ 5.0 independently predicts severe complications and endogenous organ failure (EOF) following hepatectomy for hepatocellular carcinoma. By capturing structural liver fragility and systemic vulnerability, the FIB‐4 index enhances surgical risk stratification beyond traditional functional markers ...
Masanori Nakamura, Yukiyasu Okamura, Osamu Aramaki, Nao Yoshida, Yusuke Mitsuka, Hayato Abe, Shunsuke Yamagishi, Yasuhiro Okumura, Kyongsun Pak, Shinobu Masuda   +9 more
wiley   +1 more source

Minimally Invasive Versus Open Total and Distal Gastrectomy After Chemotherapy for Gastric Cancer: A Nationwide Observational Study

Annals of Gastroenterological Surgery, EarlyView.
This nationwide observational study used data from the National Clinical Database. Patients who underwent total or distal gastrectomy for gastric cancer after chemotherapy between January 2014 and December 2022 were included. Minimally invasive surgery was associated with lower incidences of overall postoperative complications of Clavien–Dindo grade ...
Nobuaki Hoshino, Shinya Hirakawa, Shiogeo Hisamori, Hisateru Tachimori, Yusuke Fujii, Koshi Kumagai, Hideki Ueno, Ken Shirabe, Kazutaka Obama   +8 more
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

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Overview of ADPKD in Pregnancy

Kidney International Reports
Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder that often affects patients in their third to fifth decades of life and is characterized by kidney cysts, chronic kidney disease (CKD), hypertension, and hepatic cysts.
Ruth E. Campbell, Charles L. Edelstein, Michel Chonchol   +2 more
doaj   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source