Serum biochemical parameters in pregnant women with and without fetal chromosomal abnornalities
Фундаментальная и клиническая медицина, 2022 Aim. To analyse the levels of serum beta-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in pregnant women without fetal chromosomal abnormalities and with fetal trisomy 21 (Down syndrome) or 18 (Edwards syndrome ...
A. N. Volkov +4 more
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mSphere of Influence: Considering Complex Mutational Processes That Shape Microbial Virulence
mSphere, 2019 Matt Anderson works in the field of genetics and infectious disease, with a focus on the human fungal pathogen Candida albicans. In this mSphere of Influence article, he reflects on how two papers, “Gene Flow Contributes to Diversification of the Major ...
Matthew Zack Anderson
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Innovative Application of a Microlaryngeal Surgery Tube for difficult Airway Management in a Case of Down’s Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2016 An 11-year-old male child, known case of down’s syndrome with congenital oesophageal stricture was posted for oesophageal dilatation. Preoperative airway assessment revealed a high arched palate, receding mandible and Mallampati Score of 2.
Michell Gulabani +4 more
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DNA hydroxymethylation levels are altered in blood cells from Down syndrome persons enrolled in the MARK-AGE project [PDF]
, 2017 Down syndrome (DS) is caused by the presence of part or an entire extra copy of chromosome 21, a phenomenon that can cause a wide spectrum of clinically defined phenotypes of the disease. Most of the clinical signs of DS are typical of the ageing process
BACALINI, MARIA GIULIA +14 more
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Chromosomal aberrations as etiological factors of intrauterine growth retardation [PDF]
Vojnosanitetski Pregled, 2008 Background/Aim. Intrauterine growth retardation (IUGR) is a pathological condition of pregnancy characterised by birth weight below the 10th centile. A number of fetal, placental and maternal causes can lead to IUGR; although, in most cases no specific ...
Petrović Bojana +2 more
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A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]
, 2014 We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E +3 more
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Testicular cancer in Down syndrome with spinal cord metastases
Urology Annals, 2016 A 22-year-old male patient with Down syndrome was referred to our hospital with a vast left testicular mass. He underwent a left radical inguinal orchiectomy, and a histopathological examination of the mass showed a yolk sac tumor invading the epididymis.
Turky Almouhissen +4 more
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A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome [PDF]
, 2014 <b>Background:</b> Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.<p></p> ...
Donaldson, Malcolm +6 more
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Two Cases of Chromosome 27 Trisomy in Horses Detected Using Illumina BeadChip Genotyping
AnimalsAutosomal trisomy, a genetic disorder characterized by the presence of an extra autosome, is a rare but important chromosomal abnormality in horses, often associated with infertility, developmental abnormalities, and reduced life expectancy.
Cliona A. Ryan +6 more
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Biomolecules, 2020 Down syndrome (trisomy of human chromosome 21) is a common genetic disorder. Overproduction of the gaseous mediator hydrogen sulfide (H2S) has been implicated in the pathogenesis of neurological and metabolic deficits associated with Down syndrome ...
Theodora Panagaki +2 more
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