Results 81 to 90 of about 14,149 (242)

Necrotizing enterocolitis following diazoxide therapy for persistent neonatal hypoglycemia

open access: yesJournal of Pediatric Surgery Case Reports, 2020
Recalcitrant neonatal hypoglycemia poses a treatment challenge for clinicians. When a patient's hypoglycemia does not respond to dextrose infusion, several medication options are available, including diazoxide(1,2).
Christina M. Theodorou, Shinjiro Hirose
doaj   +1 more source

New developments in Silver-Russell syndrome and implications for clinical practice [PDF]

open access: yes, 2016
Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features.
Ishida, M
core   +1 more source

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe.

open access: yesEuropean Journal of Medical Genetics, 2018
Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors.
I. Barišić   +12 more
semanticscholar   +1 more source

Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3

open access: yesJournal of Forensic Sciences, Volume 71, Issue 2, Page 1050-1057, March 2026.
Abstract In typical inheritance, a child receives one chromosome of each pair from each parent. In rare cases, however, both chromosomes may be inherited from the same parent, a phenomenon known as uniparental disomy (UPD). In forensic kinship testing, UPD can lead to Mendelian inconsistencies between parent and child, increasing the risk of ...
Hannah Fontanil   +3 more
wiley   +1 more source

Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2012
With the advent of prenatal sonography, fetal overgrowth can be easily detected. Prenatal-onset overgrowth can be secondary to normal variants of familial tall stature, familial rapid maturation, diabetic macrosomia, and congenital nesidioblastosis, or ...
Chih-Ping Chen
doaj   +1 more source

PERSISTENT HYPOGLYCAEMIA IN A NEWBORN – CASE REPORT OF A GIRL WITH BECKWITH-WIEDEMANN SYNDROME

open access: yesSlovenska pediatrija, 2022
Hypoglycaemia is a common metabolic disorder in new-borns. It is defined as a blood sugar level below 2.2 mmol/l in the first 24 hours of life and below 2.6 mmol/l from 24 to 48 hours after birth.
Mojca Kavčič   +2 more
doaj   +1 more source

Evolution of imprinting: imprinted gene function in human disease [online encyclopaedia contribution] [PDF]

open access: yes, 2008
A subset of genes in mammals, known as imprinted genes, show a conditional expression strategy in which transcription depends on an allele’s parental origin.
Dickins, BJA, Kelsey, G
core   +1 more source

Incidence and Outcome of Infants With Cancer in Canada: A Report From Cancer in Young People in Canada Database

open access: yesPediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Purpose Infants with cancer are rare and face unique challenges. Our study aims to describe the incidence of infantile cancers in Canada and to compare treatment‐related mortality (TRM) and their outcomes with those of older children. Methods We conducted a retrospective cohort study using the Cancer in Young People in Canada database ...
Samuel Sassine   +22 more
wiley   +1 more source

Placental mesenchymal dysplasia: case report with gross and histological findings

open access: yesAutopsy and Case Reports, 2014
Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi.
Marcello Pecoraro Toscano   +1 more
doaj   +1 more source

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