Results 31 to 40 of about 655,699 (284)

Exploring the focus of prenatal information offered to pregnant mothers regarding newborn care in rural Uganda [PDF]

, 2013
Background: Neonatal death accounts for one fifth of all under-five mortality in Uganda. Suboptimal newborn care practices resulting from hypothermia, poor hygiene and delayed initiation of breastfeeding are leading predisposing factors.
Atuyambe, Lynn, Ayiasi, Mangwi Richard, Criel, Bart, Garimoi, Christopher, Kolsteren, Patrick, Van Royen, Kathleen, Verstraeten, Roosmarijn   +6 more
core   +3 more sources

Seizures as the first manifestation of chromosome 2q24.2-q24.3 in a two and a half years old girl: A case report

Gynecology and Obstetrics Clinical Medicine, 2021
Background: Mutations and/or duplications in the chromosome 2q24.3 region are known to be responsible for various epilepsy phenotypes. However, microdeletion in childhood epilepsy is rarely reported. Case presentation: A two-and-a-half-year-old girl with
Wen-cheng Dai, Xue-xia Liu, Hui-jun Li, Gui-ning Song, Yan-hui Li, Cheng-ling Zhang, Lin Zhang   +6 more
doaj   +1 more source

Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome

BMC Pregnancy and Childbirth, 2022
Background Wolf-Hirschhorn syndrome (WHS) is a common genetic condition and prenatal diagnosis is difficult due to heterogeneous expression of this syndrome and rather non-specific ultrasound findings.
Corinna Simonini, Markus Hoopmann, Karl Oliver Kagan, Torsten Schröder, Ulrich Gembruch, Annegret Geipel   +5 more
doaj   +1 more source

The Safety Appliance Act and the FELA: A Plea for Clarification [PDF]

, 1953
The aim of this thesis is to analyse and examine the debate on prenatal testing in Western countries, with a special focus on my own country, Sweden. In the near future it might be possible for a pregnant woman to profile the DNA of her foetus with a ...
Louisell, David W., Anderson, Kenneth M.
core   +1 more source

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]

, 2016
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias, Dheedene, Annelies, Grisart, Bernard, Janssens, Sandra, Menten, Björn, Sante, Tom, Vanbellinghen, Jean-François, Vergult, Sarah   +7 more
core   +2 more sources

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations

Genetics Research
Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single ...
Zhiwei Wang, Yali Zhao, Shuting Yang, Yongan Wang, Leilei Wang   +4 more
doaj   +1 more source

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa

Molecular Genetics & Genomic Medicine, 2022
Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability.
Li‐min Cui, Jian‐ye Jiang, Ning‐ning Hu, Hong‐en Zou, Bao‐zhen Zhao, Cong‐ying Han, Kai Yang, Yi‐peng Wang, Huan‐xia Xing   +8 more
doaj   +1 more source

Testosterone and grasp-reflex differences in human neonates [PDF]

, 2001
According to the Geschwind-Behan-Galaburda (GBG) hypothesis, prenatal testosterone (T) causes a slowing in the development of the left brain with a consequent compensatory growth in the right brain, creating a reverse organisation of the cerebral ...
Tan, Meliha, Tan, Uner
core   +1 more source

Monitoring of circulating tumor DNA allows early detection of disease relapse in patients with operable breast cancer

Molecular Oncology, EarlyView.
Monitoring circulating tumor DNA (ctDNA) in patients with operable breast cancer can reveal disease relapse earlier than radiology in a subset of patients. The failure to detect ctDNA in some patients with recurrent disease suggests that ctDNA could serve as a supplement to other monitoring approaches.
Kristin Løge Aanestad, Marie Austdal, Oddmund Nordgård, Gunnar Mellgren, Satu Oltedal, Marie L. Austbø, Ylva H. Vignes, Thomas Helland, Kristin Jonsdottir, Tone H. Lende, Emilius A. M. Janssen, Bjørnar Gilje, Kjersti Tjensvoll, PBCB study group, Gunnar Mellgren, Tone Hoel Lende, Anette Heie, Kristin Viste, Anita Røyneberg Alvheim, Emiel AM Janssen, Kristin Jonsdottir, Ann Cathrine Kroksveen, Thomas Helland, Einar Gudlaugsson, Oddmund Nordgård, Satu Oltedal, Kristin Løge Aanestad, Jan Terje Kvaløy, Kirsten Lode, Kari Britt Hagen, Marie Austdal, Ylva H. Vignes, Siri Tungland Sola, Nina Egeland Amundsen, Finn Magnus Eliassen, Emeritus Ernst A Lien   +35 more
wiley   +1 more source