Results 41 to 50 of about 25,985 (194)

A Case of Congenital Chylous Ascites and Hypothyroidism: Coincidence or Association?

open access: yesBoğaziçi Tıp Dergisi, 2020
Congenital chylous ascites (CA) is the rare accumulation of chyle in the peritoneal cavity, often occurring in infants under three months of age.
Özgül Bulut   +2 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman   +18 more
wiley   +1 more source

Nail Disorders in Systemic Conditions

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Frequency of cardiovascular and gastrointestinal malformations, leukemia and hypothyroidism in children with Down syndrome in Trabzon, Turkey

open access: yesThe Turkish Journal of Pediatrics, 1998
This study was carried out to determine the frequency of congenital heart defects, cholelithiasis, hypothyroidism and leukemia in 31 children with Down syndrome. Twenty children (71.4%) had congenital heart defects.
F M Aynaci   +3 more
doaj  

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

open access: yesPediatric 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   +2 more
wiley   +1 more source

Comparison of health-care coverage between children with congenital hypothyroidism and healthy children in Iran [PDF]

open access: yesمجله علمی دانشگاه علوم پزشکی کردستان, 2018
Background and Aim: Provision of timely healthcare for children under 5 years of age specially children with congenital hypothyroidism and also regular monitoring of growth through measuring weight, height and head circumference have been of great ...
Rahmani KH   +5 more
doaj   +2 more sources

Effectiveness of Recombinant Human Growth Hormone Therapy in Small‐for‐Gestational‐Age Children With Short Stature: A Stratified Analysis Based on Genetic Variant Status

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park   +15 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng   +14 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu   +5 more
wiley   +1 more source

Predictive factors of permanent versus transient congenital hypothyroidism: a pragmatic cohort study [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism
Purpose To identify clinical predictors of permanent congenital hypothyroidism (PCH) and transient congenital hypothyroidism (TCH). Methods This retrospective cohort study enrolled neonates with risk factors for congenital hypothyroidism as diagnosed by ...
Niki Dermitzaki   +7 more
doaj   +1 more source

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