NHS changes guidance on Down's syndrome after accused of 'scaremongering'

Campaigners, including London actress Sally Phillips (pictured with her son Olly, 15) have now thanked for the NHS for amending the advice, which wasn't due to be revised until April.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Authors: Pramono LA, Yuwono A Abstract Congenital hypothyroidism is the most treatable cause of mental retardation. It is also the most prevalent congenital endocrine disorder in childhood. A dramatic improvement can be made by early detection, diagnosis, and adequate treatment of levothyroxine in patients with congenital hypothyroidism. Severe cognitive impairment is associated with persistent disease in patients who have delayed or no treatment at all. In a modern era with complete healthcare facilities in a big city like Jakarta, the prevalence late-diagnosed congenital hypothyroidism is supposed to be very low....
Source: Acta medica Indonesiana - Category: Internal Medicine Tags: Acta Med Indones Source Type: research
Publication date: Available online 9 November 2019Source: NeuroImage: ClinicalAuthor(s): N. Khalili, E. Turk, M.J.N.L. Benders, P. Moeskops, N.H.P. Claessens, R. de Heus, A. Franx, N. Wagenaar, J.M.P.J. Breur, M.A. Viergever, I. IšgumAbstractMR images of infants and fetuses allow non-invasive analysis of the brain. Quantitative analysis of brain development requires automatic brain tissue segmentation that is typically preceded by segmentation of the intracranial volume (ICV). Fast changes in the size and morphology of the developing brain, motion artifacts, and large variation in the field of view make ICV segmenta...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
Publication date: Available online 7 November 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Léa Dumortier, Véronique-Aurélie BricoutAbstractIndividuals with Down syndrome present many clinical characteristics, such as metabolic, endocrine, anatomic and neurologic dysfunctions, that contribute to the physiopathology of obstructive sleep apnea syndrome (OSAS). As a result, sleep apnea prevalence is significantly greater in population with Down syndrome, and may have critical consequences on health and quality of life, such as cardiovascular risks and obesity.This paper compiles a list of ...
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
Title: Study: Aging With Down Syndrome Means Huge Alzheimer's RiskCategory: Health NewsCreated: 11/7/2019 12:00:00 AMLast Editorial Review: 11/8/2019 12:00:00 AM
Source: MedicineNet Alzheimer - Category: Geriatrics Source Type: news
ConclusionsOocytes with premeiotic errors will significantly contribute to the high level of preimplantation and prenatal death. Data so far available suggests that, depending upon the maternal age, up to 40% of aneuploidy that is present in oocytes at the end of meiosis I may be due to germinal mosaicism.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
ConclusionsHealth-care professionals must be careful to speak in unprejudiced ways throughout the diagnostic process and present both termination and continuation of pregnancy as equally legitimate options. Nevertheless, the couples may still experience doubt and feel vulnerable following their decision to continue the pregnancy.
Source: Sexual and Reproductive Healthcare - Category: Reproduction Medicine Source Type: research
Conditions:   Down Syndrome;   Balance Interventions:   Other: Kinesio taping;   Other: Sham taping Sponsor:   Gazi University Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Conclusions: In this case, intraocular E-PRP was a promising, apparently safe, and effective treatment option in management of corneal hydrops, in which conventional approaches failed. This is the first case in the literature to describe OCT appearance of corneal hydrops and intracameral use of E-PRP for the resolution of DM rupture in acute corneal hydrops.
Source: Cornea - Category: Opthalmology Tags: Case Report Source Type: research
Conclusions: The significant overexpression of miR-99a, but not pri-miR-99a, points towards an alteration of the post-transcriptional mechanisms of hsa-miR-99a maturation and/or stability in the female trisomic milieu, with a potential impact on signaling pathways important for proper development of the heart. PMID: 31703316 [PubMed - in process]
Source: Medicina (Kaunas) - Category: Universities & Medical Training Authors: Tags: Medicina (Kaunas) Source Type: research
Evidence from multiple laboratories has accumulated to show that mosaic neuronal aneuploidy and consequent apoptosis characterizes and may underlie neuronal loss in many neurodegenerative diseases, particularly Alzheimer’s disease and frontotemporal dementia. Furthermore, several neurodevelopmental disorders, including Seckel syndrome, ataxia telangiectasia, Nijmegen breakage syndrome, Niemann–Pick type C, and Down syndrome, have been shown to also exhibit mosaic aneuploidy in neurons in the brain and in other cells throughout the body. Together, these results indicate that both neurodegenerative and neurodevel...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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