Results 121 to 130 of about 41,503 (238)

اپيدميولوژی زردی پاتولوژيک نوزادان و ارتباط آن با مشخصات دموگرافيک در متولدين بيمارستان 22 بهمن گناباد در سال1390 [PDF]

open access: yes, 2013
زمينه و هدف: زردی يکی از مشکلات شايع دوران نوزادی است که به دليل عوارض جدی آن مثل کرنيکتروس از اهميت ويژه ای برخوردار است. شناسايی عوامل زمينه ساز زردی می تواند سبب تشخيص و درمان سريع آن گردد.
صابر, اشرف   +3 more
core  

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

A study to explore mothers' and fathers' shared and individual experiences of premature birth : a thesis presented in partial fulfilment of the requirements for the degree of Master of Science in Psychology at Massey University, Albany, New Zealand [PDF]

open access: yes, 2005
This qualitative research project using some of the methodologies of Grounded Theory looked at five couples' experiences of premature birth, in particular comparing and contrasting the experiences of mothers and fathers.
Lomas, Michele
core  

Advanced Hybrid Closed Loop Systems in Pregnancy: A Retrospective Study of Women With Type 1 Diabetes

open access: yesEndocrinology, Diabetes &Metabolism, Volume 9, Issue 3, May 2026.
In a cohort of 42 women who used hybrid closed loop systems in pregnancy, time in the pregnancy target range (3.5–7.8 mmol/L) increased from 57% (44.5%–65%) at first visit to 73% (65%–82%) at 34 weeks (p < 0.001). Frequency of severe hypoglycaemia was low and there were no episodes of diabetic ketoacidosis.
Dimitra Stathi   +4 more
wiley   +1 more source

Neonatal jaundice and associated factors in public hospitals of southern Ethiopia: A multi-center cross-sectional study

open access: yesHeliyon
Background: Neonatal jaundice is one of the most prevalent problems, affecting over a million newborns globally every year. It increases the likelihood of hospitalization, lifetime disability, and death, particularly in low and middle-income countries ...
Agegnehu Bante   +4 more
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot   +33 more
wiley   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha   +13 more
wiley   +1 more source

Neonatology. Introduction [PDF]

open access: yes, 2017
Навчальний посібник містить інформацію про основні принципи догляду за новонародженими дітьми, перехідні умови та годування немовлят, основні принципи реанімації новонароджених.
Petrashenko, Viktoriia Oleksandrivna   +11 more
core  

The Management of Congenital Cytomegalovirus Infection in an Era of Universal Newborn CMV Screening

open access: yesReviews in Medical Virology, Volume 36, Issue 3, May 2026.
ABSTRACT The most common infectious disease responsible for paediatric developmental disability is congenital infection with human cytomegalovirus (cCMV). Many serious sequelae are caused by cCMV, including microcephaly, intracranial calcifications, neuronal migration defects, seizure disorders, developmental delay, and sensorineural hearing loss (SNHL)
Emily R. Harrison   +2 more
wiley   +1 more source

Home - About - Disclaimer - Privacy