Results 131 to 140 of about 70,338 (285)

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With <i>COASY</i> Protein Associated Neurodegeneration. [PDF]

JIMD Rep
ABSTRACT COASY protein associated neurodegeneration is a rare, progressive autosomal recessive neuroferritinopathy due to pathogenic mutations in the COASY gene, coding for the mitochondrial located coenzyme A synthase. Clinical manifestations include seizures, progressive spasticity, dystonia, neuropathy, cognitive decline and neuropsychiatric ...
Lynch M, Manoy S, Murray C, Wallace G, Pereira N, Price R, Inwood A, McGill J, Coman D.   +8 more
europepmc   +2 more sources

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

JPGN Reports, EarlyView.
Jamie M. Klapp, Lauren Nichols, Nicholas J. Gloude, Amber Hildreth, Kathleen B. Schwarz   +4 more
wiley   +1 more source

Scenario‐Based Guidance for International Growth Standards (GIGS): For Whom, When, and How to Apply the INTERGROWTH‐21st and WHO Child Growth Standards

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To demonstrate when, for whom, and how to apply the INTERGROWTH−21st (IG‐21st) and WHO Child Growth Standards (WHO GS) using a scenario‐based approach with illustrations utilising a sub‐set of data from a multi‐country low birthweight infant prospective cohort.
Eric O. Ohuma, Simon R. Parker, Sara Strout, Bancy Ngatia, Linda Vesel   +4 more
wiley   +1 more source

Implications for Newborn and Child Growth Classification Using INTERGROWTH‐21st and WHO Child Growth Standards

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective The aim of this study was to assess how the use of the WHO Child Growth Standards (WHO GS) and the INTERGROWTH‐21st Standards (IG‐21st) affect the classification and interpretation of growth trajectories. Design A secondary data analysis of an observational cohort study.
Linda Vesel, Sara Strout, Simon Parker, Audencio Victor, Bancy Ngatia, Eric O. Ohuma   +5 more
wiley   +1 more source

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Maternal anorexia nervosa and risk of mental and neurodevelopmental morbidity in offspring

Child and Adolescent Mental Health, EarlyView.
Background Anorexia nervosa has the potential to affect fetal neurodevelopment. We examined the association between maternal anorexia nervosa and mental, substance‐related, and neurodevelopmental morbidity in offspring. Methods We conducted a retrospective cohort study of 1,269,370 children in Quebec, Canada, between 2006 and 2022.
Sam Amar, Gabriel Côté‐Corriveau, Mimi Israël, Howard Steiger, Nancy Low, Nicholas Chadi, Émilie Brousseau, Nahantara Lafleur, Nathalie Auger   +8 more
wiley   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source