Results 61 to 70 of about 104,773 (248)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Identifying associations between genetic conditions in offspring and pregnancy health complications

Reproductive, Female and Child Health
Background Prior research has identified associations between pregnancy complications and specific genetic diagnoses in offspring. Objective The purpose of this study is to provide a broader investigation of associations between infant genetic diagnoses ...
Rebecca A. Gibson, Bijan Abar, Lily N. Elman, Kyle M. Walsh, Jillian H. Hurst, Jennifer L. Cohen   +5 more
doaj   +1 more source

Infant Mortality in the Chechen Republic: Comparative Analysis and Major Trends

Вопросы современной педиатрии
Background. Despite the clear trend towards infant mortality decrease in our country, there are significant differences in values in some federal districts and regions of Russian Federation.
Dmitry O. Ivanov, Karina E. Moiseeva, Kazbek S. Mezhidov, Vadim K. Yuriev, Kseniya G. Shevtsova, Anna V. Alekseeva, Vyacheslav M. Bolotskikh   +6 more
doaj   +1 more source

Late Pregnancy Antiseizure Medication Exposure and Offspring Neurodevelopmental Risk: A Multi‐Child Cohort Study

Annals of Neurology, EarlyView.
Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy, Vanina Tchuente, Sherif Eltonsy, Steven Hawken, Padma Kaul, Mark Walker, Michael Pugliese, Roxana Dragan, Anamaria Savu, Lisiane Leal, Lucie Morin, Isabelle Malhamé, Raluca Pana, Anick Bérard   +13 more
wiley   +1 more source

Espectro óculo-aurículo-vertebral em pacientes com defeitos cardíacos congênitos Espectro óculo-aurículo-vertebral en pacientes con defectos cardíacos congénitos Oculo-auriculo-vertebral spectrum in patients with congenital heart defects

Arquivos Brasileiros de Cardiologia, 2010
FUNDAMENTO: Há poucos estudos avaliando a frequência do espectro óculo-aurículo-vertebral (EOAV) nos pacientes com defeitos cardíacos congênitos (DCC). OBJETIVO: Verificar a frequência do EOAV em uma amostra de pacientes com malformações cardíacas graves.
Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, José Antônio Monteiro Flores, Eliete Golendziner, Carlo Benatti Pilla, Tatiana Roman, Marileila Varella-Garcia, Giorgio Adriano Paskulin   +7 more
doaj  

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

Low birth weight, a current problem

Archivo Médico de Camagüey, 2018
Background: low birth weight (newborn with figures below 2500 g of weight) is one of the most important causes of infant and perinatal morbidity and mortality. Objective: to characterize low birth weight.
Coralia Gómez Mendoza, Pedro Ruiz Álvarez, Ildiko Garrido Bosze, María Dolores Rodríguez Calvo   +3 more
doaj  

Serious Infections in Offspring Exposed to Tumor Necrosis Factor Inhibitors During Pregnancy: Comparison of Timing During Pregnancy and Placental Transfer Ability

Arthritis &Rheumatology, EarlyView.
Objective We evaluated serious infection risk in offspring exposed to tumor necrosis factor inhibitors (TNFi) in utero, separated by TNFi timing and placental transfer ability. Methods Using MarketScan (2011–2021), we identified offspring born to mothers with chronic inflammatory diseases.
Leah K. Flatman, Sasha Bernatsky, Yvan St‐Pierre, Marie‐Eve Beauchamp, Isabelle Malhamé, Anick Bérard, Évelyne Vinet   +6 more
wiley   +1 more source

Head Growth Trajectories During the First Year of Life and Risk of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Atypical infant head circumference (HC)—including increased rates of macrocephaly and microcephaly—has been linked to autism spectrum disorder (ASD). However, specific head growth trajectories associated with ASD remain poorly defined. This retrospective case–control study aimed to delineate these trajectories and examine their relationship to
Rewaa Balaum, Leena Elbedour, Einav Alhozyel, Gal Meiri, Dikla Zigdon, Analya Michaelovski, Orly Kerub, Idan Menashe   +7 more
wiley   +1 more source