Results 61 to 70 of about 110,148 (210)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Rare Association of Congenital Diaphragmatic Hernia with Lower Esophageal Atresia and Perforation

International Journal of Pediatrics, 2010
Congenital diaphragmatic hernia is known to be associated with esophageal atresia, which is a rare association. We report a rare occurrence of congenital diaphragmatic hernia and lower esophageal atresia.
Narendra Kumar Are, K. Nagarjuna, Lavanya Kannaiyan   +2 more
doaj   +1 more source

Esophageal lung resection and prosthesis placement in a preterm neonate

Journal of Indian Association of Pediatric Surgeons, 2015
This report describes a successful outcome in a preterm baby with an esophageal atresia and tracheo-esophageal fistula, who initially underwent a primary esophageal repair; but a persistent nonexpanding lung on the side of surgery led to further ...
Lalit Parida, Kamalesh Pal, Hussah A Buainain, Khalid U Al-Umran   +3 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Single-stage surgical repair of a preterm neonate with congenital triple atresia: a case report

Journal of Pediatric Surgery Case Reports
Introduction: Congenital triple atresia involving esophageal atresia/tracheoesophageal fistula, duodenal atresia and anorectal malformation is an exceptionally rare association, with limited evidence guiding optimal surgical timing and staging.
Kevin Teerovengadum, Subha Shita Devi Gaya, Kenigen Manikion, Jethishka Motee, Faeza Bibi Soobadar   +4 more
doaj   +1 more source

Standardized Reporting of Cardiac Magnetic Resonance Examinations in Children With Cardiac Diseases and Adults With Congenital Heart Disease: A Scientific Statement From the Association for European Pediatric and Congenital Cardiology (AEPC) and the International Society for Magnetic Resonance in Medicine (ISMRM)

Journal of Magnetic Resonance Imaging, EarlyView.
Francesca Raimondi, Inga Voges, Lamia Ait‐Ali, Sonya Babu‐Narayan, Rene Botnar, Barbara Burkhardt, Adrienne Campbell‐Washburn, Dominik Daniel Gabbert, Georg Hansmann, Willem A. Helbing, Hasan Hosan, Sylvia Krupickova, Heiner Latus, Duarte Martins, Colin McMahon, Christian Meierhofer, Vivek Muthurangu, Tiina Ojala, Pim van Ooij, Claudia Prieto, Milan Prsa, Kuberan Pushparajah, José F. Rodríguez Palomares, Samir Sarikouch, Lars Grosse‐Wortman, F. Gerald Greil, Heynric Grotenhuis   +26 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

From Genomics to Precision Cardiology: A Comprehensive Review of Clinical Applications and Challenges in Cardiovascular Diseases

Clinical Cardiology, Volume 49, Issue 10, October 2026.
Genomic medicine in cardiovascular care is progressing from established diagnostic applications toward integrated risk prediction, multiomics, and emerging therapeutic strategies. ABSTRACT Background Genomic cardiology is an emerging field integrating genetic, molecular, imaging, and digital health data to improve cardiovascular disease (CVD ...
Neda Mohsen‐Pour, Shiva Esmaeili, Aydin Feyzi, Ali Sharafi, Majid Maleki, Samira Kalayinia   +5 more
wiley   +1 more source

The morphopathological particuliarities of intrinsic innervation of the esophagus in newborns with esophageal atresia and inferior tracheoesophageal fistula

Хірургія дитячого віку, 2019
The authors present the results of a morphological study of the biological samples from patients treated with the inferior esophageal atresia with tracheoesophageal fistula, which included immunohistochemical examination of neuronal changes in the ...
S. Babuci, V. Petrovici, S. Gladun, D. Haidarli, A. Pisarenco, L. Sinițina, D. David   +6 more
doaj   +1 more source

Modulating the Gut–Ovarian Axis: Mechanistic Rationale and the Limits of Current Evidence for Probiotics in Female Reproductive Aging

Food Science &Nutrition, Volume 14, Issue 10, October 2026.
Selected orally administered probiotics and functional‐food interventions may alter gut microbial ecology and intestinal barrier function. Microbiota‐derived metabolites, microbial components, and endocrine signals—including short‐chain fatty acids, bile acids, tryptophan metabolites, and lipopolysaccharide—may influence systemic immune, metabolic, and
Meiqi Chen, Qi Su, Mengshuang Sun, He Zhang, Jin Xu, Chenxi Zhang, Yanbo Wang   +6 more
wiley   +1 more source