Results 21 to 30 of about 894,560 (266)

Effects of melanocortins on fetal development [PDF]

open access: yesCongenital Anomalies, 2011
ABSTRACTMelanocortins, adrenocorticotropic hormone (ACTH) and α‐, β‐, and γ‐melanocyte‐stimulating hormone (MSH) are produced in the placenta and secreted into embryos/fetuses. ACTH concentrations are higher in fetal plasma than in maternal plasma and peak at mid‐gestation in rats, whereas ACTH production starts in the anterior lobe of the fetal ...
Eriko, Simamura   +4 more
openaire   +2 more sources

Outcomes of Postnatal Myelomeningocele Repair in a Japanese Single-center Cohort: A Comparison with the Management of Myelomeningocele Study Trial

open access: yesNeurologia Medico-Chirurgica
Fetal surgery for myelomeningocele is not yet standard practice in Japan. To establish baseline data for the outcomes of standard postnatal care for patients eligible for fetal surgery, we compared the results from our large, single-institution cohort ...
Kenichi USAMI   +4 more
doaj   +1 more source

Congenital high airway obstruction syndrome (CHAOS) combined with esophageal atresia, tracheoesophageal fistula and duodenal atresia

open access: yesJournal of Pediatric Surgery Case Reports, 2017
Congenital high airway obstruction syndrome (CHAOS) is a rare congenital anomaly and the most common etiology is laryngeal atresia. Recently, an increasing number of cases have survived due to prenatal diagnosis and pre- and peri-natal care including ex ...
Yutaka Kanamori   +18 more
doaj   +1 more source

Isolation of Nucleated Red Blood Cells With Intact Genomic DNA From Cord Blood by Applying G&T‐Seq

open access: yesReproductive Medicine and Biology
Purpose Fetal cells in maternal blood are a pure source of fetal genomic DNA for noninvasive prenatal testing (NIPT), if successfully isolated. We assessed whether single‐cell genome and transcriptome sequencing (G&T‐seq) can be applied to efficiently ...
Noriko Ito   +7 more
doaj   +1 more source

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

open access: yesJournal of Medical Case Reports, 2018
Background 11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia.
Yuko Ichimiya   +7 more
doaj   +1 more source

Improvement of Sickle Cell Disease Care Mitigates the Healthcare Utilization Induced by Increased Prevalence: Experience of a Tertiary Pediatric Center

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) has undergone major changes in the last decades. Its prevalence has been steadily increasing and numerous advances have been made in the management of the disease. However, the effect in real‐life setting of these major changes is unknown, particularly in a Canadian environment. Procedure We aimed to assess
Maude Cigna   +16 more
wiley   +1 more source

Organoids in pediatric cancer research

open access: yesFEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons

open access: yesMolecular Genetics & Genomic Medicine
Background Whole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed. We aimed to improve diagnostic precision by developing an effective WES‐based strategy for detecting congenital anomalies.
Kosuke Taniguchi   +15 more
doaj   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

open access: yesFEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai   +9 more
wiley   +1 more source

Lists of HumanMethylation450 BeadChip probes with nucleotide-variant information obtained from the Phase 3 data of the 1000 Genomes Project

open access: yesGenomics Data, 2016
The Illumina's Infinium HumanMethylation450 (HM450) BeadChip array provides a simultaneous examination of DNA methylation status of more than 480,000 CpG sites in the human genome.
Kohji Okamura   +3 more
doaj   +1 more source

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