Results 261 to 270 of about 587,070 (347)

Atypical presentation of <i>HNF1β</i> gene mutation mimicking type 2 diabetes: Case report and literature review. [PDF]

SAGE Open Med Case Rep
Hu X, Miao H, Ye M, Behera TR, Xu B, Zhou M.   +5 more
europepmc   +1 more source

Capability, opportunity and motivation for shared decision‐making about valproate as an antiseizure medication treatment for epilepsy in women with pregnancy potential: A qualitative study of patient perspectives

British Journal of Health Psychology, Volume 31, Issue 1, February 2026.
Abstract Objectives Valproate is a highly effective antiseizure medication but carries significant teratogenic and neurodevelopmental risks to offspring if used during pregnancy. A shared decision‐making (SDM) approach is recommended to guide clinician/patient discussions on valproate suitability for women with pregnancy potential.
Sarah Louise Griffiths, Delyth James, Denitza Williams, Lynette James, Andrew Evans, William O. Pickrell, Christine McKnight, Sarah Brown, Rhiannon Phillips   +8 more
wiley   +1 more source

A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders. [PDF]

BMC Med Genomics
Chen Q, Shi L, Zhu X.
europepmc   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Distinct genomic, microenvironmental, and nephron signatures in VHL kidney cysts and tumors. [PDF]

Sci Rep
Rowe I, Corea F, Pipitone GB, Scotti GM, Lucianò R, Sant'Angelo M, Tenace NP, Franco I, Ferrara AM, Doglioni C, Ponzoni M, De Cobelli F, Montorsi F, Capitanio U, Carrera P, Larcher A, Salonia A, VHL OSR Program.   +17 more
europepmc   +1 more source

New Tools and a Population‐Based Approach to Improve Kidney Transplant Opportunity and Preemptive Waitlisting

Clinical Transplantation, Volume 40, Issue 2, February 2026.
ABSTRACT Background While kidney transplantation provides longer survival and improved quality of life, there are numerous barriers to access. Provider‐led discussions and early referrals are critical for improving access. However, reducing variability in referrals and addressing barriers through standardizing documentation of transplant option ...
Aklilu A. Yishak, Megha S. Bhatnagar, Allison V. Tomimatsu, Rebecca LaLonde, Atif Jensen, Karishma N. Mohadikar, R. Clayton Bishop, Adrienne N. Deneal, Jennifer C. Gander, Ronald Potts   +9 more
wiley   +1 more source

Double trouble: A novel case report of synchronous bilateral renal cell carcinoma of differing histology. [PDF]

Urol Case Rep
Shanholtzer A, Kaki S, Daugherty S, Shi D, Abdelhady M.   +4 more
europepmc   +1 more source

Selection for Function in Complex Distributed Pathological Systems

Evolutionary Applications, Volume 19, Issue 2, February 2026.
ABSTRACT Pathological processes are often conceptualized as localized phenomena anchored in a primary tumor, a focal lesion, or a single organ. However, growing evidence indicates that many diseases persist and progress as complex distributed systems, maintained by interactions among multiple sites.
Frédéric Thomas, Antoine M. Dujon, Daniel Vaiman, Gerard Eberl, Catherine Alix‐Panabières, Pascal Pujol, Beata Ujvari, Jordan Meliani, Aurora M. Nedelcu, Jean‐Pascal Capp   +9 more
wiley   +1 more source

An Adult Massive Retroperitoneal Mature Teratoma: A Case Report and Literature Review. [PDF]

Int J Womens Health
Ren XK, Zhu SG, Xia YZ.
europepmc   +1 more source

GPNMB immunohistochemistry is a useful ancillary tool for the diagnosis of pulmonary lymphangioleiomyomatosis

Histopathology, Volume 88, Issue 3, Page 698-709, February 2026.
We evaluated the diagnostic utility of GPNMB immunohistochemistry in LAM. GPNMB showed strong expression in LAM cells, while the differential diagnostic mimics showed no or only low expression. Based on its 100% sensitivity and specificity in our cohort, GPNMB is a highly reliable immunohistochemical marker for the diagnosis of LAM.
Fatime Szalai, Judit Pápay, Katalin Dezső, Levente Kuthi, Anna Sebestyén, András Khoór, Ildikó Krencz   +6 more
wiley   +1 more source