Results 151 to 160 of about 50,678 (282)

Case Report of a Child With an Extranumerary Upper Limb: Treatment and Literature Review. [PDF]

Hand (N Y)
Borges RMR, Nakamoto HA, de Toledo VE, Iwase FDC, B TFDS, Rezende MR.   +5 more
europepmc   +1 more source

Alpha‐Actinin‐3 Deficiency Links Genetic Susceptibility to Renal Fibrosis: Evidence From Hemodialysis Patients and Murine Models

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
This study links the ACTN3 R577X polymorphism to chronic kidney disease (CKD), specifically in patients undergoing hemodialysis (HD). In parallel, increased Actn3 expression in murine models of kidney injury supports a functional role for ACTN3 in renal pathophysiology.
Raisa B. Santos, Hellena Storch Vieira, Alice K. Scheer, Larissa R. Ribeiro, Cledia F. Silva, Rafael B. Orcy, Ines Schadock, Alexandre Budu, Ronaldo Carvalho Araujo, Augusto Schneider, André F. Rodrigues, Michael Bader, Maristela Böhlke, Carlos Castilho Barros   +13 more
wiley   +1 more source

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review. [PDF]

BMC Pediatr
Wu J, Huang Z, Zhu B, Zou R, Tan Y, Yao W, Yang Y, Xiong T.   +7 more
europepmc   +1 more source

Childhood acute leukemia and type 1 diabetes in children: A nationwide case–control study

International Journal of Cancer, Volume 158, Issue 4, Page 924-930, 15 February 2026.
What's new? The etiology of childhood acute leukemia remains poorly understood. Accumulating evidence suggests a potential link between leukemia and autoimmune diseases. This nationwide, register‐based case–control study investigated the association between childhood acute leukemia and type 1 diabetes in Finland.
Julia Ventelä, Ida Pellikka, Anssi Auvinen, Olli Lohi, Atte Nikkilä   +4 more
wiley   +1 more source

Characteristics and related factors of high-need high-cost children in Shanghai, China: a retrospective cohort study in inpatient setting. [PDF]

BMC Pediatr
Zhang P, Zhu B, Xiaohui H, Duo C, Kunkun Z, Wang L.   +5 more
europepmc   +1 more source

Personalized Models of Biological Barriers and Their Diseases: Recent Progress with Organs‐On‐Chips

Advanced Biology, Volume 10, Issue 2, February 2026.
Buck and Bugter et al. explore the architectural diversity and physiological functions of human barrier systems and reveal how organ‐on‐chip platforms, particularly those integrating patient‐derived cells, are advancing barrier disease modeling. They highlight how emerging biological and technological advances can be used to bridge the gap between ...
Franziska Buck, Jeroen Bugter, Gizem Yorukoglu, Mina Kazemzadeh Dastjerd, Thomas E. Winkler   +4 more
wiley   +1 more source

Surgical Correction of a Severe Bilateral Cleft Foot Using a Diamond Incision and Cannulated Screw Fixation: A Case Report and Literature Review. [PDF]

Cureus
Alzein HH, Mouslem H, El Lakis AA, Zahwi A, Daher Y.   +4 more
europepmc   +1 more source

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

Animal Genetics, Volume 57, Issue 1, February 2026.
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Stefan J. Rietmann, Joseph Malatos, Vidhya Jagannathan, Tosso Leeb   +3 more
wiley   +1 more source

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome

American Journal of Hematology, Volume 101, Issue 2, Page 228-241, February 2026.
Diamond‐Blackfan Anemia Syndrome (DBAS) is a congenital bone marrow failure disorder characterized by defective erythropoiesis and a spectrum of congenital anomalies, including craniofacial malformations, limb abnormalities, and cardiac and renal defects.
Paola Quarello, Karim Karimi, Slavica Trajkova, Emanuela Garelli, Mehdi Samadieh, Emanuela Iovino, Tommaso Pippucci, Giovanni Papagni, Sandra Dalfonso, Lucia Corrado, Serena Rizzo, Adriana Carando, Jennifer Kerkhof, Jessica Rzasa, Haley McConkey, Michael Levy, Marco Zecca, Francesca Fioredda, Angelica Barone, Simone Cesaro, Maria Gabelli, Francesca Torchio, Giulia Zucchetti, Maria Elena Cantarini, Paola Corti, Ugo Ramenghi, Franco Locatelli, Franca Fagioli, Bekim Sadikovic, Alfredo Brusco   +29 more
wiley   +1 more source

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 291-299, February 2026.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source