Results 241 to 250 of about 552,750 (375)

Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop‐gain variant

Journal of Diabetes Investigation, Volume 16, Issue 5, Page 959-963, May 2025.
ABSTRACT Neonatal diabetes mellitus (NDM) is a monogenic condition diagnosed <6 months of age with >40 genetic causes. International guidelines recommend referral for genetic testing immediately after diagnosis since the genetic result guides clinical management. We used next‐generation sequencing to identify a homozygous pathogenic variant, p.(Arg244*)
Russell Donis, Maryam Al Badi, Nadia Alhashmi, Andrew T Hattersley, Sarah E Flanagan, Elisa De Franco   +5 more
wiley   +1 more source

The relationship between cancer risk and cystic fibrosis: the role of CFTR in cell growth and cancer development. [PDF]

RSC Med Chem
Indra R, Černá V.
europepmc   +1 more source

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study

Journal of Diabetes Investigation, EarlyView.
Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba, Yuka Sugawara, Yosuke Hirakawa, Dai Sato, Reiko Inagi, Masaomi Nangaku   +5 more
wiley   +1 more source

The Role of Vitamin D in Rare Diseases-A Clinical Review. [PDF]

Biomedicines
Ducki C, Wojtkiewicz M, Bartoszewicz M, Fiedor P.   +3 more
europepmc   +1 more source

Testing non‐lethal techniques for endoparasite detection and sex determination in pumpkinseed sunfish (Lepomis gibbosus)

Journal of Fish Biology, EarlyView.
Abstract Developing non‐lethal techniques to estimate parasite infection is critical for studying disease ecology in wild animals. We tested the effectiveness of coelomic ultrasonographic examination and plasma enzyme markers to detect liver infection with bass tapeworms Proteocephalus ambloplitis (Leidy 1887) as well as the effectiveness of ultrasound
Matthew Archambault, Claire Vergneau‐Grosset, Carolyn Gara‐Boivin, Vincent Mélançon, Sandra A. Binning   +4 more
wiley   +1 more source

Zinner's syndrome in two young middle-aged men: a case report and review of the literature. [PDF]

BMC Urol
Huang Y, Han B, Huang Z, Huang Q, Wang T, Chen Y.   +5 more
europepmc   +1 more source

An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone

Journal of Anatomy, Volume 246, Issue 6, Page 1053-1074, June 2025.
Examination of an alkaptonuria body highlights the susceptibility of all cartilage types and associated perichondrium to ochronotic pigmentation and the heterogeneity of ochronotic pigment distribution both within and between tissues. In joints, calcified cartilage pigments before non‐calcified cartilage.
Juliette H. Hughes, Gemma Charlesworth, Amanda Prior, Claire M. Tierney, Paul D. Rothwell, Neil P. Thomas, Lakshminarayan R. Ranganath, James A. Gallagher, Alistair P. Bond   +8 more
wiley   +1 more source

Targeting TRPM3 as a potential therapeutic approach for autosomal dominant polycystic kidney disease. [PDF]

Sci Rep
Gül H, Davies JA.
europepmc   +1 more source

Recent Advances in Diagnostics and Therapeutics for Paediatric Thyroid Cancer

Journal of Paediatrics and Child Health, Volume 61, Issue 5, Page 666-675, May 2025.
ABSTRACT Purpose of Review Paediatric thyroid cancer management traditionally relied on extrapolation from adult data and, despite good survival outcomes, often involved extensive surgical approaches and radioactive iodine (RAI) therapy with potentially life‐long complications.
Joel A. Vanderniet, Noemi A. Fuentes‐Bolanos, Yoon Hi Cho, David K. V. Chung, Gideon Sandler, Ali Moghimi, Bhavna Padhye, Kathy Tucker, Antoinette Anazodo, Paul Z. Benitez‐Aguirre   +9 more
wiley   +1 more source

Mitochondrial dysfunction in inherited renal disease and acute kidney injury

Nature Reviews Nephrology, 2016
F. Emma, G. Montini, S. Parikh, L. Salviati   +3 more
semanticscholar   +1 more source