Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10 ‐year period

ConclusionThe large increase in the annual number of prenatal diagnoses performed due to a previous pregnancy with ade novo mutation reflects the growing understanding regarding the role of these mutations in the pathogenesis of genetic diseases.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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CONCLUSIONS: Both STX3451 and STX2895 provide new approaches for inducing cell death and lowering tumour burden in NF2 as well as in NF1, which both have limited treatment options. PMID: 31730023 [PubMed - in process]
Source: BMC Pharmacology and Toxicology - Category: Drugs & Pharmacology Tags: BMC Pharmacol Toxicol Source Type: research
Authors: Kuck KH, Phan HL, Tilz RR Abstract The new guidelines for the management of supraventricular tachycardia (SVT) were published by the European Society of Cardiology (ESC) in September 2019. The key message of the guidelines is that catheter ablation should be offered as a first line treatment to most patients during a comprehensive discussion of the risks and advantages. This recommendation recognizes that catheter ablation has nowadays become a widely established, effective and safe treatment method with a very low complication rate, which has revolutionized the treatment of SVT due to the substa...
Source: Herz - Category: Cardiology Tags: Herz Source Type: research
ConclusionPLO has a significant impact on pain, mental state, quality of life, and capacity to work. However, the long-term prognosis is promising. The severe mental distress is presumably related to several contributing factors in life such as physical integrity and independence, family life, employment, and financial security.Key Points• PLO has a strong impact on quality of life and can lead to severe mental distress.• At onset of symptoms, patients with PLO are in very poor mental and physical condition; however, the long-term outcome after inpatient rehabilitation seems to be good.• Most patients do not...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
Authors: Etemadi A, Amouzegar A, Mehran L, Tohidi M, Azizi F, Moradi K, Delshad H Abstract Objective Thyroid disorders such as subclinical hypothyroidism and isolated maternal hypothyroxinemia are understudied in pregnant women, despite their possible adverse effects on the health of mother and child. Also, the role of iodine deficiency in developing such disorders has not yet been fully understood. Design The present national population-based cross-sectional study was conducted on 1080 randomly recruited pregnant women, aged 20-40 from 12 provinces of Iran from 2013 to 2014. Method Serum concentrations of TSH, T4,...
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research
No abstract available
Source: Postgraduate Obstetrics and Gynecology - Category: OBGYN Tags: Article Source Type: research
Publication date: Available online 15 November 2019Source: The Lancet HIVAuthor(s): Paige L Williams, Cenk Yildirim, Ellen G Chadwick, Russell B Van Dyke, Renee Smith, Katharine F Correia, Alexandria DiPerna, George R Seage, Rohan Hazra, Claudia S Crowell, Surveillance Monitoring for ART Toxicities (SMARTT) study of the Pediatric HIV/AIDS Cohort StudySummaryBackgroundPerinatal HIV transmission has substantially decreased with combination antiretroviral regimens, but complications in children who are HIV-exposed but uninfected, such as microcephaly, warrant ongoing surveillance. We aimed to evaluate whether individual in ut...
Source: The Lancet HIV - Category: Infectious Diseases Source Type: research
Publication date: Available online 15 November 2019Source: The Lancet HIVAuthor(s): Stanzi Maria le Roux, Elaine J Abrams
Source: The Lancet HIV - Category: Infectious Diseases Source Type: research
Source: Dr.Malpani's Blog - Category: Reproduction Medicine Source Type: blogs
Authors: Ariceta G, Buj MJ, Furlano M, Martínez V, Matamala A, Morales M, Robles NR, Sans L, Villacampa F, Torra R Abstract Tuberous sclerosis complex (TSC) is a rare, hereditary, multisystemic disease with a broad phenotypic spectrum. Its management requires the collaboration of multiple specialists. Just as in the paediatric age, the paediatric neurologist takes on special importance; in adulthood, renal involvement is the cause of the greatest morbidity and mortality. There are several recommendations on the general management of patients with TSC but none that focuses on renal involvement. These recommen...
Source: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - Category: Urology & Nephrology Tags: Nefrologia Source Type: research
CONCLUSIONS: Health promotion programs for Aboriginal and Torres Strait Islander people have not been adequately evaluated. The majority of programs focused on the development of individual skills and changing personal behaviours without addressing the other health promotion action areas, such as creating supportive environments or re-orienting health care services. SO WHAT: This scoping review provides a summary of the health promotion programs that have been delivered in Australia for Aboriginal and Torres Strait Islander people to prevent or manage chronic disease. These programs, although many are limited in qualit...
Source: Health Promotion Journal of Australia - Category: International Medicine & Public Health Tags: Health Promot J Austr Source Type: research
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