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Guidelines down syndrome

Deborah Kinnear, Jill Morrison, Linda Allan, Angela Henderson, Elita Smiley, Sally-Ann Cooper
OBJECTIVES: To investigate the prevalence of multimorbidity in adults with intellectual disabilities with and without Down syndrome. DESIGN: Large, population-based cross-sectional study. SETTING: The geographical area of one Health Board, Scotland. PARTICIPANTS: All adults (aged 16+ years) known to general practitioners to have intellectual disabilities and adults receiving services provided or paid by intellectual disabilities health or social work services...
February 5, 2018: BMJ Open
Héctor A Levipan, Johan Quezada, Ruben Avendaño-Herrera
Flavobacterium psychrophilum is the causative agent of bacterial cold-water disease and rainbow trout fry syndrome, and hence this bacterium is placed among the most important salmonid pathogens in the freshwater aquaculture industry. Since bacteria in biofilms differ substantially from free-living counterparts, this study sought to find the main differences in gene expression between sessile and planktonic states of F. psychrophilum LM-02-Fp and NCMB1947T, with focus on stress-related changes in gene expression occurring during biofilm formation...
2018: Frontiers in Microbiology
M González-Cerrajero, M Quero-Escalada, F Moldenhauer, C Suárez Fernández
Over the years, the life expectancy for individuals with Down syndrome (DS) has increased significantly. This fact involves a higher risk for developing numerous medical conditions associated with the aging of adults with DS. A high level of awareness is required by the professional, due to the lack of clinical expressiveness and their higher pain threshold, often makes the diagnosis difficult. Health care professionals must be aware of the specific recommendations for the appropriate care of the adult population with DS...
December 14, 2017: Semergen
F Javed, Z Akram, A P Barillas, S V Kellesarian, H B Ahmed, J Khan, K Almas
To evaluate the effects of orthodontic palatal plate therapy (OPPT) in the treatment of orofacial dysfunction in children with Down syndrome (DS). Indexed databases were searched. Clinical trials in DS allocated to test (treatment with palatal plates) versus control group (without palatal plates/special physiotherapy for orofacial stimulation) with follow-up of any time duration and assessing mouth closure, tongue position, active and inactive muscle function as outcomes. Study designs, subject demographics, frequency and duration of palatal plate therapy, method for assessment, follow-up period and outcomes were reported according to the PRISMA guidelines...
February 2018: Orthodontics & Craniofacial Research
Haitham Maarouf, María Taboada, Hadriana Rodriguez, Manuel Arias, Ángel Sesar, María Jesús Sobrido
BACKGROUND: Electronic rating scales represent an important resource for standardized data collection. However, the ability to exploit reasoning on rating scale data is still limited. The objective of this work is to facilitate the integration of the semantics required to automatically interpret collections of standardized clinical data. We developed an electronic prototype for the Scale of the Assessment and Rating of Ataxia (SARA), broadly used in neurology. In order to address the modeling challenges of the SARA, we propose to combine the best performances from OpenEHR clinical archetypes, guidelines and ontologies...
December 6, 2017: BMC Medical Informatics and Decision Making
Shariq Najeeb, Zohaib Khurshid, Fahad Siddiqui, Sana Zohaib, Muhammad Sohail Zafar
OBJECTIVES: Patients with Down syndrome (DS) require an earlier and more frequent tooth replacement than rest of the population. The objective of this systematic review is to critically analyze and summarize studies to ascertain the outcomes and survival of dental implants placed in jaws of DS patients. METHODS: Using the key words "dental implants," "Down syndrome," and "prosthodontics," an electronic search was conducted via PubMed/MEDLINE, ISI Web of Science, Google Scholar, Embase, and Central Register of Controlled Trials (CENTRAL) databases by 2 authors, S...
December 2017: Journal of Evidence-based Dental Practice
Stina Lou, Olav B Petersen, Finn S Jørgensen, Ida C B Lund, Susanne Kjaergaard, Ida Vogel
INTRODUCTION: Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (>90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences of implementing comprehensive, national prenatal screening guidelines. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark...
February 2018: Acta Obstetricia et Gynecologica Scandinavica
Jilin Hu, Baosheng Zhu
Non-invasive prenatal screening using cell-free fetal DNA (NIPS) has been integrated into the prenatal health care only in a short span of five years, and the guidelines provided by professional bodies have been continuously updated. The American College of Medical Genetics and Genomics has made a statement on NIPS in July, 2016, suggesting that the NIPS can replace conventional screening for Patau, Edwards and Down syndromes in a continuum of gestational age and for any maternal age, except those who are significantly obese...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Miriam Rehfeldt, Elizabeth Eklund, Joachim Struck, Andrea Sparwasser, Barbara O'Brien, Glenn E Palomaki, Josef Köhrle, Andreas Bergmann, Geralyn Lambert-Messerlian
OBJECTIVES: Preeclampsia is a serious complication of pregnancy, threatening fetal and maternal health. The aim of our study is to examine the association between preeclampsia and the connecting peptide of the pregnancy hormone relaxin (pro-RLX2) as a potential new biochemical marker. STUDY DESIGN: This is a nested case/control study derived from the cohort of pregnancies delivering at Women & Infants Hospital. Cases were identified at a clinic or by hospital codes, and individually confirmed by record review...
November 7, 2017: Pregnancy Hypertension
George T Capone, Brian Chicoine, Peter Bulova, Mary Stephens, Sarah Hart, Blythe Crissman, Andrea Videlefsky, Katherine Myers, Nancy Roizen, Anna Esbensen, Moya Peterson, Stephanie Santoro, Jason Woodward, Barry Martin, David Smith
Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co-occurring medical conditions in adults with DS...
January 2018: American Journal of Medical Genetics. Part A
Jessica Fredericksen, Vanessa Fabbre
Owing to recent medical advancements, people with Down Syndrome (DS) are now able to live considerably longer lives and thus experience a variety of complex issues as they age. Alzheimer's Disease (AD) frequently occurs in older adults who have DS, but few practice guidelines exist to inform social work practice with older adults who have this dual diagnosis. This commentary will highlight the connection between these two conditions within a neurobiological framework and discuss implications for practice based on the available literature on this intersection of ability status, cognitive status, and age...
October 23, 2017: Journal of Gerontological Social Work
Deepa Patel, Ping Li, Andrew J Bauer, Leslie Castelo-Soccio
Importance: The incidence of thyroid disease in children with alopecia areata (AA) has been widely studied with no consensus on whether a true association with AA exists. In addition, screening practices for thyroid dysfunction in children with AA vary widely among clinicians. Objective: To reduce health care costs, eliminate unnecessary testing, and standardize clinical practices, we sought to characterize thyroid function in children with AA to establish guidelines for screening...
December 1, 2017: JAMA Dermatology
Norman R Friedman, Amanda G Ruiz, Dexiang Gao, David G Ingram
Objective In 2011, the American Academy of Pediatrics published a guideline for children with Down syndrome (DS), recommending a polysomnogram (PSG) by age 4 years regardless of symptoms. Their rationale was based on 2 publications with small cohorts, where at least 50% of the children had no obstructive sleep apnea (OSA) symptoms but their PSG results were abnormal. The American Academy of Otolaryngology-Head and Neck Surgery Foundation published a clinical practice guideline recommending PSG prior to adenotonsillectomy for these children...
September 1, 2017: Otolaryngology—Head and Neck Surgery
David Chitayat, Sylvie Langlois, R Douglas Wilson
OBJECTIVE: To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. OPTIONS: Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
François Audibert, Alain Gagnon
OBJECTIVE: To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. OPTIONS: The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancy. OUTCOMES: Clinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal diagnosis in twins...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Dirk Sibbing, Dániel Aradi, Claudius Jacobshagen, Lisa Gross, Dietmar Trenk, Tobias Geisler, Martin Orban, Martin Hadamitzky, Béla Merkely, Róbert Gábor Kiss, András Komócsi, Csaba A Dézsi, Lesca Holdt, Stephan B Felix, Radoslaw Parma, Mariusz Klopotowski, Robert H G Schwinger, Johannes Rieber, Kurt Huber, Franz-Josef Neumann, Lukasz Koltowski, Julinda Mehilli, Zenon Huczek, Steffen Massberg
BACKGROUND: Current guidelines recommend potent platelet inhibition with prasugrel or ticagrelor for 12 months after an acute coronary syndrome managed with percutaneous coronary intervention (PCI). However, the greatest anti-ischaemic benefit of potent antiplatelet drugs over the less potent clopidogrel occurs early, while most excess bleeding events arise during chronic treatment. Hence, a stage-adapted treatment with potent platelet inhibition in the acute phase and de-escalation to clopidogrel in the maintenance phase could be an alternative approach...
October 14, 2017: Lancet
Emily Nightengale, Patricia Yoon, Kristy Wolter-Warmerdam, Dee Daniels, Fran Hickey
Purpose: This study evaluated the prevalence of permanent and transient hearing loss, the use of hearing aids as a recommendation, and middle ear dysfunction in children with Down syndrome (DS) through a large multiage and ethnically diverse sample, using current audiologic testing practices. Method: Retrospective analysis of data collected on 308 children with DS (168 boys, 140 girls; average age = 5.99 ± 4.88 years) who received an audiological evaluation during 2013 as part of their medical care at a large pediatric hospital...
September 18, 2017: American Journal of Audiology
Marjolein Snaterse, Harald T Jorstad, Marlies Heiligenberg, Gerben Ter Riet, S Matthijs Boekholdt, Wilma Scholte Op Reimer, Ron J Peters
BACKGROUND: Nurse-coordinated care (NCC) improves the achievement of low-density lipoprotein-cholesterol (LDL-C) targets after an acute coronary syndrome (ACS). We hypothesised that NCC improves achievement of LDL-C targets through more intensive medication titration. METHODS: We used data from Randomised Evaluation of Secondary Prevention by Outpatient Nurse Specialists (RESPONSE), a multicentre randomised trial on the efficacy of NCC in 754 ACS patients. Follow-up data were collected at 6 and 12 months...
2017: Open Heart
Alice T Mathews, Oluremi A Famodu, Melissa D Olfert, Pamela J Murray, Christopher F Cuff, Marianne T Downes, Norman J Haughey, Sarah E Colby, Paul D Chantler, I Mark Olfert, Joseph W McFadden
The 2010 USDA Dietary Guidelines for Americans (DGA) recommends a diet largely composed of fruit and vegetables. Consuming a diet high in fruit and vegetables and low in refined carbohydrates and saturated fat may reduce an individual's risk for type 2 diabetes, nonalcoholic fatty liver disease, low-grade chronic inflammation, and metabolic syndrome (MetS). Several recent studies have implicated the bioactive sphingolipid ceramide as an associative and causative biomarker for the development of these conditions...
July 2017: Physiological Reports
Blanche Griffin, Samantha Edwards, Lyn S Chitty, Celine Lewis
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing...
February 9, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
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