Results 111 to 120 of about 2,214,382 (367)

Deciphering the Acetabular Labrum's Cellular Atlas: MDK Inhibition as a Novel Therapeutic Method for Developmental Dysplasia of the Hip

Advanced Science, EarlyView.
This study explores developmental dysplasia of the hip (DDH) by analyzing acetabular labrum abnormalities using single‐cell and spatial transcriptomics. Aberrant fibrocartilage stem cell proliferation is linked to DDH progression. Targeting the MK signaling pathway with a specific inhibitor effectively alleviates early DDH abnormalities, offering ...
Runze Yang, Huiling Liu, Minghao Ge, Dingyuan Zhang, Tianhao Xu, Lei Zhang, Yanlin Zhu, Shun Li, Jian Li, Xin Ma, Weili Fu   +10 more
wiley   +1 more source

Computed tomography imaging characteristics of shone syndrome

Radiology Case Reports, 2019
Shone syndrome was first described in 1963 by Dr JD Shone. It is a constellation of congenital abnormalities compromising approximately 0.6% of all cases of congenital cardiac abnormalities.
Alan True, MD, Melvin Baidya, Christopher Lui, MD, German Kilimnik, MD, Michael Sadler, MD   +4 more
doaj  

Congenital segmental dilatation of the intestine in extremely low birth weight infants

Journal of Pediatric Surgery Case Reports, 2020
Congenital segmental dilatation of the intestine can arise from various etiologies. Herein, we describe two cases of congenital segmental dilatation of intestine in extremely low birth weight infants of different etiologies, namely muscular abnormalities
Yoichi Nakagawa, Tohru Harada, Yuji Kaneoka   +2 more
doaj  

Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]

, 2019
Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M, Berauer, John‐Paul, Bezerra, Jorge A, Bull, Laura N, Chopra, Pankaj, Cutler, David J, Finegold, Milton J, Gibbs, Richard A, Guthery, Stephen L, Harpavat, Sanjiv, Hegde, Madhuri R, Kamath, Binita M, Karpen, Saul J, Loomes, Kathleen M, Magee, John C, Mezina, Anya I, Molleston, Jean P, Moore, Barry, Murray, Karen F, Muzny, Donna M, Network, for the Childhood Liver Disease Research, Okou, David T, Perlmutter, David H, Rajagopalan, Ramakrishnan, Rosenthal, Philip, Russo, Pierre, Sabo, Aniko, Sherker, Averell H, Sokol, Ronald J, Spinner, Nancy B, Squires, Robert H, Thompson, Richard J, Wang, Kasper S, Yandell, Mark   +33 more
core   +2 more sources

Addressing Anemia in High‐Altitude Populations: Global Impact, Prevalence, Challenges, and Potential Solutions

American Journal of Hematology, EarlyView.
Key challenges in diagnosing anemia in high‐altitude populations include variability in hemoglobin (Hb) concentration, associated pathological conditions, altitude‐induced plasma volume changes, and environmental factors such as contamination and nutrition.
Ayoub Boulares, Nicola Luigi Bragazzi, Gustavo F. Gonzales, Paul Robach, Benoit Champigneulle, Julien V. Brugniaux, Emeric Stauffer, Elie Nader, Stéphane Doutreleau, Philippe Connes, Samuel Verges, Aurélien Pichon   +11 more
wiley   +1 more source

Characterization of congenital craniofacial anomalies in a specialized hospital of Risaralda, Colombia. 2010-2014

Revista de la Facultad de Medicina, 2018
Introduction: Congenital craniofacial malformations have a major impact on the lives of children and their relatives when the face is compromised since they may present along with cognitive deficits or altered facial appearance.
Ximena Silva-Giraldo, Gloria Liliana Porras-Hurtado   +1 more
doaj   +1 more source

A survey of chromosome anomalies in Malta [PDF]

, 1989
433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
core  

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Laparoscopic ureteropyeloanastomosis in the treatment of duplex system

International Brazilian Journal of Urology, 2012
PURPOSE: Duplex system is one of the most common anomalies of upper urinary tract. Anatomical and clinical presentation determine its treatment. Usually, the upper moiety has a poor function and requires resection, but when it is not significantly ...
Marcelo Hisano, Francisco T. Denes, Artur H. Brito, Marcos Lucon, Marcos G. Machado, Homero Bruschini, Miguel Srougi   +6 more
doaj   +1 more source

A Demonstration of Congenital Abnormalities of the Iris and Lens [PDF]

, 1934
Ida Mann
openalex   +1 more source