Results 71 to 80 of about 14,912 (246)

Adalimumab‐responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys‐Dietz Syndrome

DEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Loeys‐Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in TGFBR1 or TGFBR2. It is characterized by vascular fragility, skeletal abnormalities, and predisposition to allergic and inflammatory conditions, including monogenic inflammatory bowel disease (IBD).
Tomomitsu Sado, Satoshi Ukai, Shingo Kurasawa, Yosuke Kono, Norio Hasuda, Mai Iwaya, Takaya Nakane, Tomomi Yamaguchi, Tomoki Kosho, Yoshiko Nakayama   +9 more
wiley   +1 more source

Congenital clubfoot: Etiopathogenetic mechanisms and treatment challenges [PDF]

Medicinski Podmladak
Clubfoot is recognized as one of the most frequent musculoskeletal deformities. Being characterized by equinus and varus hindfoot, adduction and inversion of the forefoot, cavus and calf muscles’ atrophy, it occurs in 1 to 2 per 1000 newborns.
Milanović Filip, Dučić Siniša, Janković Milena, Nikolić Dejan   +3 more
doaj   +1 more source

Optimization of physical rehabilitation in congenital clubfoot [PDF]

Pedagogìka, Psihologìâ ta Mediko-bìologìčnì Problemi Fìzičnogo Vihovannâ ì Sportu, 2013
The aim of the study was to improve the results of treatment of children with typical form of congenital clubfoot by optimizing of physical rehabilitation. The study included the following objectives: to make the algorithm work with the child, to justify
Golovakha M.L.
doaj   +1 more source

Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. [PDF]

, 2009
Clubfoot is a common birth defect that affects 135,000 newborns each year worldwide. It is characterized by equinus deformity of one or both feet and hypoplastic calf muscles.
Blanton, Susan H, Burt, Amber, Dobbs, Matthew B, Ester, Audrey R, Gurnett, Christina A, Hecht, Jacqueline T, Scott, Allison, Weymouth, Katelyn S, Wise, Carol A   +8 more
core   +1 more source

Human‐Centered Design of a Contextualized Service Delivery Model for Families of Infants With Major Congenital Anomalies in Kenya

Birth Defects Research, Volume 118, Issue 2, February 2026.
ABSTRACT Background Congenital anomalies (CAs) are a major cause of childhood mortality and disability in low‐ and middle‐income countries. Our study explored caregiver experiences of infants with major CAs in Kenya and co‐developed interventions using human‐centered design (HCD).
Audrey Chepkemoi, Molly McPheron, Violet Naanyu, James G. Carlucci, Caroline Kerich, Winnie Matelong, Harold Kooreman, Megan S. McHenry, Caitlin Bernard, Marylydia Kiano, Roselyn Midiwo, Beverly Musick, Constantin T. Yiannoutsos, Kara Wools‐Kaloustian, Rena C. Patel, Edwin Were, John M. Humphrey, on behalf of EA‐IeDEA consortium   +17 more
wiley   +1 more source

Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: The Carter effect [PDF]

, 2012
Background: Idiopathic clubfoot is approximately twice as common in males than in females. The reason for this discrepancy is unclear butmay represent an inherent difference in the susceptibility to thedeformity.
Buchan, Jillian G., Dobbs, Matthew B., Gurnett, Christina A., Kruse, Lisa M.   +3 more
core   +3 more sources

Narrative review of the management of a relapsed clubfoot [PDF]

, 2021
Karim Masrouha, Alice Chu, Wallace B. Lehman   +2 more
openalex   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

SURGICAL TREATMENT OF ADULT PATIENTS WITH CONGENITAL CLUBFOOT IN SEVERITY DEGREE

Travmatologiâ i Ortopediâ Rossii, 2012
There were treated 48 patients (adolescents and adults) with severe congenital clubfoot in Saratov Research Institute of Traumatology and Orthopedics. 43 patients had the age ranged from 16 to 30, 5 patients had the age over 30. 19 patients had bilateral
A. A. Mukhamadeev, I. A. Norkin, N. A. Koryshkov, V. D. Balayan, S. N. Kireev, M. S. Ediev   +5 more
doaj   +1 more source

The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World

Prenatal Diagnosis, EarlyView.
Teresa N. Sparks, Lyn S. Chitty
wiley   +1 more source