Patients With Down Syndrome May Have Keratoconus-Like Corneas Patients With Down Syndrome May Have Keratoconus-Like Corneas
Over 70% of people with Down syndrome (DS) - many more than previously thought - may have corneas similar in morphology to the corneas of people with keratoconus, a new study reports.Reuters Health Information
Journal of Intellectual Disability Research, EarlyView.
The placentas of Down syndrome (DS) pregnancies exhibit morphologic and functional abnormalities. Although the increase in dosage of certain genes on chromosome 21 has been associated with the DS phenotype, the effects on placenta have seldom been studied. Here we examine the expression of four dosage sensitive genes APP, ETS2, SOD1, and HMGN1 in normal and DS placentas. We demonstrated significant overexpression of amyloid precursor protein (APP) in DS placentas at RNA and protein levels by qPCR, western blot, and immunohistochemistry.
Condition: Down Syndrome Intervention: Other: Hand grip exercise and lower body negative pressure Sponsor: University of Illinois at Chicago Recruiting
The objective of this study was to evaluate risk factor prevalence in pregnancies with fetal Down syndrome, in an effort to characterize efficacy of population-based screening. Study Design Retrospective review of singleton pregnancies with delivery of live born or stillborn infant with Down syndrome from 2009 through 2015. Risk factor categories included maternal age ≥35 years, abnormal serum screening, identification of ≥1 ultrasound marker at 16 to 22 weeks (nuchal thickness ≥6 mm, echogenic intracardiac focus, echogenic bowel, renal pelvis dilatation, femur length
To determine the incidence, characteristics of, and risk factors contributing to the development of pulmonary hypertension in children with Down syndrome.
CONCLUSION: There is autonomic dysfunction in individuals with DS, which may or may not be expressed at rest, but it is usually demonstrated in an autonomic task. Meta-analysis specified that there was no significant alteration between DS and the controls during rest, except RMSSD index which was lower in DS than controls. PROSPERO: CRD42017068647. PMID: 30005737 [PubMed - in process]
Authors: Tayyar AT, Tayyar A, Atakul T, Yayla CA, Kilicci C, Eser A, Karakus R, Herkiloglu D, Cundubey CR, Tayyar M Abstract Introduction: The aim of this study is to compare first- and second-trimester Down syndrome biochemical screening markers in intrahepatic cholestasis of pregnancy (ICP) and normal pregnancies. Material and methods: This observational case-control study was conducted at Health Sciences University Zeynep Kamil Maternity and Children's Health Training and Research Hospital and the Department of Obstetrics and Gynecology at Erciyes University Medical Faculty during 2016-2017. The study includ...
Cognitive and selective motor impairment in patients with Down syndrome (DS) exert a negative impact on the planning, strategies and execution of movements . Motor training with virtual reality (VR) has demonstrated promising results in this population . Although there are no reports of the use of transcranial direct current stimulation (tDCS) on patients with DS, this modality has demonstrated satisfactory results regarding neuromotor learning in children with other neurological diseases .
Hirschsprung disease (HSCR, aganglionic megacolon) is the most frequent genetic cause of congenital intestinal obstruction. DSCAM was identified as associated to HSCR with Down Syndrome (DS-HSCR) in European popu...
CONCLUSIONS: The study presents the first information on self-help groups and documents the multidisciplinarity of paediatric orthopaedics. Close collaboration between paediatric orthopaedic surgeons and regional support groups might contribute to the reduction of uncertainty and fears and improve of medical provision. PMID: 29996166 [PubMed - as supplied by publisher]