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]
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
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]
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
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
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
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
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]
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
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

