Results 101 to 110 of about 318,281 (264)

Relationship Between Hospital Volume and Outcomes of Minimally Invasive Esophagectomy for Esophageal Cancer: Analysis of the National Clinical Database in Japan

Annals of Gastroenterological Surgery, EarlyView.
According to multivariable analysis conducted using a hierarchical logistic regression model, using VHH as the reference group, the odds ratios for mortality by hospital volume category were as follows: VLH, 2.70 (p < 0.0001); LH, 1.72 (p = 0.052); MH, 1.70 (p = 0.034); and HH, 1.43 (p = 0.173).
Soji Ozawa, Hiraku Kumamaru, Yuko Kitagawa, Kazuo Koyanagi, Junya Oguma, Harushi Udagawa, Hiroaki Miyata, Yasushi Toh, Hisahiro Matsubara   +8 more
wiley   +1 more source

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

American Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio, Baptiste Lecalvez, Emanuela Garelli, Coralie Mallebranche, Adriana Carando, Marie‐Pierre Castex, Nathalie Garnier, Marco Zecca, Nathalie Aladjidi, Elisa Bertoni, Arthur Sterin, Maria Licciardello, Anne Sirvent, Antonella Sau, Isabelle Marie, Benedicte Bruno, Lydie M. Da Costa, Franca Fagioli, Paola Quarello, Thierry Leblanc   +19 more
wiley   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 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, EarlyView.
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

Changes in serum cardiac troponin I after seizures: A marker for persistent subtle left ventricular myocardial dysfunctions in children with epilepsy

Annals of Pediatric Cardiology
Background: Epilepsy is a common neurological disease in childhood. There is a widespread association of epilepsy with cardiovascular comorbidities.
Mona Hafez, Shaimaa Rakha, Khaled Fathy, Sarah Abdraboh Abdelhameed, Dina Salama Abd-Elmagid   +4 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Phenotypic profiling of pristane‐induced mimicking human systemic lupus erythematosus in Macaca fascicularis

Animal Models and Experimental Medicine, EarlyView.
Pristane (5 mL/kg) induced a robust systemic lupus erythematosus (SLE)‐like phenotype in Macaca fascicularis, marked by elevated antinuclear antibody (ANA) levels and systemic clinical, hematological, and biochemical changes. This model closely reflects human SLE and provides a translational platform for disease studies and therapeutic evaluation ...
Jonny Jonny, Soetojo Wirjopranoto, Chairul A. Nidom, I Ketut Sudiana, Terawan A. Putranto, Elisa D. Pratiwi, Tiza W. Mawaddah, Astria N. Nidom, Reviany V. Nidom, Setyarina Indrasari, Irma Y. Rosytania, Hiqmah Y. Yana, Sanindita Kusumastuti   +12 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α

Animal Models and Experimental Medicine, EarlyView.
IRF‐1 modulates hepatic ferroptosis and aggravates liver ischemia/reperfusion injury via DYRK1α. Abstract Background The purpose is to define the contribution of the interferon regulatory factor‐1–dual‐specificity tyrosine phosphorylation‐regulated kinase 1α (IRF‐1–DYRK1α) axis to hepatocellular ferroptosis during liver ischemia/reperfusion injury ...
Jinping Zhang, Jinming Zhang, Siyuan Song, Mingyang Li, Liying Sun, Zhijun Zhu, Dongdong Lin   +6 more
wiley   +1 more source