Results 21 to 30 of about 170,327 (313)
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023 Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram +11 more
wiley +1 more source
Gastrointestinal Emergencies in Neonates: What We Should Know
대한영상의학회지, 2020 Newborn gastrointestinal tract emergency diseases include various disorders that occur anywhere along the digestive tract. Most of them are congenital malformations, not acquired diseases.
Hyun-Hae Cho, So Mi Lee, Sun Kyoung You
doaj +1 more source
Rapidly involuting congenital hemangioma [PDF]
Anais Brasileiros de Dermatologia, 2017 : Rapidly involuting congenital hemangioma is a rare vascular tumor that generally has a good prognosis. The authors describe a case of a newborn girl with a left cervical vascular lesion.
Susana Brás +2 more
doaj +2 more sources
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023 Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse +8 more
wiley +1 more source
Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel
The Korean Journal of Gastroenterology, 2021 Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder caused by mutations in the NPC1 and NPC2 genes. These mutations cause the accumulation of unesterified cholesterol and other lipids in the lysosomes.
Sun Woo Park +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023 Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin +47 more
wiley +1 more source
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
wiley +1 more source
Case Reports, 2020 Introduction: Arthrogryposis multiplex congenita is a disorder characterized by non-progressive joint contractures. It has an estimated prevalence of 1 in every 3 000-5 000 live births, with the same male-to-female ratio. Case presentation: This is the
Paola Andrea Romero-Campiño +4 more
doaj +1 more source
Deep Learning for EEG Seizure Detection in Preterm Infants [PDF]
Int J Neural Syst (2021), 2021 EEG is the gold standard for seizure detection in the newborn infant, but EEG interpretation in the preterm group is particularly challenging; trained experts are scarce and the task of interpreting EEG in real-time is arduous. Preterm infants are reported to have a higher incidence of seizures compared to term infants.
arxiv +1 more source
Medicina, 2023 Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye
Ioana Rosca +8 more
doaj +1 more source