Results 171 to 180 of about 128,382 (221)

Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

Clinical Genetics, EarlyView.
A 79‐year‐old woman with lifelong peripheral edema and an affected sister was found to harbor a novel homozygous THSD1 splice‐site variant. Reduced THSD1 expression in dermal endothelial cells supported the possibility that this variant contributes to chronic hereditary edema.
Eiko Amo, Takafumi Toyohara, Naoya Saijo, Satoko Sato, Jun Takayama, Yoshiko Suto, Yuji Noguchi, Sosuke Kinomura, Yusuke Ishizuka, Shun Watanabe, Koichi Kikuchi, Rui Makino, Mai Yoshida, Yuji Oe, Tasuku Nagasawa, Koji Okamoto, Takehiro Suzuki, Mariko Miyazaki, Shinya Kawaguchi, Takashi Suzuki, Takaaki Abe, Shigeo Kure, Atsuo Kikuchi, Tetsuhiro Tanaka   +23 more
wiley   +1 more source

Association of UACR and UPCR with kidney failure: analysis of observational data in patients with rare kidney diseases. [PDF]

Nephrol Dial Transplant
Wong K, Pitcher D, Barratt J, Gale DP, Consortium R.   +4 more
europepmc   +1 more source

PLIN5 Protects Against Ang II‐Induced Podocyte Lipotoxicity by Interacting With FKBP8 and Preserving Lipid Droplet–Mitochondria Contact

Cell Proliferation, EarlyView.
PLIN5‐FKBP8 tethers lipid droplets to mitochondria to counteract Ang II‐induced lipotoxicity. ABSTRACT Chronic kidney disease (CKD) remains a major global health challenge. Angiotensin II (Ang II)‐induced lipotoxicity is an important contributor to podocyte injury.
Ping Wang, Wenjie Chen, Jingjing Ke, Hongtu Hu, Zhuan Peng, Yue Qi, Guohua Ding, Jijia Hu   +7 more
wiley   +1 more source

Suspected Pembrolizumab-Associated Perinuclear Antineutrophil Cytoplasmic Antibody (p-ANCA) Vasculitis With Progressive Kidney Injury in a Patient With Metastatic Renal Cell Carcinoma and Limited Renal Reserve: A Diagnostic Challenge. [PDF]

Cureus
Goshtaseb R, Luu Y, Sarmosyan K, Lopez L, Drakaki A.   +4 more
europepmc   +1 more source

Efficacy and safety of BAFF/APRIL-pathway inhibitors versus placebo in adults with IgA nephropathy: a systematic review with pairwise and network meta-analysis. [PDF]

BMC Nephrol
Mansour N, Elbarody RMF, Kamel AM.
europepmc   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

Charting the Course of Recurrent C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative GN in Kidney Transplant Recipients. [PDF]

Clin J Am Soc Nephrol
Wong EKS.
europepmc   +1 more source

Dyslipidaemia, Chronic Kidney Disease and Diabetes Mellitus: A Triple Threat to Cardiovascular Health

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Diabetes mellitus (DM) and chronic kidney disease (CKD) frequently coexist and together create a ‘triple threat’ with dyslipidaemia, enhancing the risk for cardiovascular morbidity and mortality. Diabetic kidney disease (DKD) leads to altered lipid metabolism through insulin resistance, inflammation and oxidative stress resulting in an ...
Ann S. Forrest, Priyanka Majety, Stéphanie B. Mayer, Om P. Ganda   +3 more
wiley   +1 more source

Markedly Elevated sFlt-1/PlGF Ratios in Atypical Superimposed Preeclampsia Before 20 Weeks of Gestation: A Three-Case Series. [PDF]

J Obstet Gynaecol Res
Ito C, Ogoyama M, Ohkuchi A, Suzuki H, Takahashi H, Fujiwara H.   +5 more
europepmc   +1 more source

Quality of Diabetes Care Among Older Adults in Germany—Results of the Study on Health of Older People 2022/2023 Compared With Previous National Health Surveys

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims The study aims (1) to evaluate the quality of diabetes care considering guideline‐recommended medical therapies, cardiometabolic factors, and self‐management of health behaviours among older adults with diabetes in Germany, and (2) to examine time trends.
Yong Du, Giselle Sarganas, Beate Gaertner, Maike Buchmann, Judith Fuchs, Hannelore Neuhauser, Christin Heidemann   +6 more
wiley   +1 more source