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https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#1
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
https://www.readbyqxmd.com/read/28619123/chd-and-respiratory-syncytial-virus-global-expert-exchange-recommendations
#2
Robert M R Tulloh, Constancio Medrano-Lopez, Paul A Checchia, Claudia Stapper, Naokata Sumitomo, Matthias Gorenflo, Eun Jung Bae, Antonio Juanico, Juan M Gil-Jaurena, Mei-Hwan Wu, Talal Farha, Ali Dodge-Khatami, Rocky Tsang, Gerard Notario, Colleen Wegzyn
BACKGROUND: Palivizumab is the standard immunoprophylaxis against serious disease due to respiratory syncytial virus infection. Current evidence-based prophylaxis guidelines may not address certain children with CHD within specific high-risk groups or clinical/management settings. METHODS: An international steering committee of clinicians with expertise in paediatric heart disease identified key questions concerning palivizumab administration; in collaboration with an additional international expert faculty, evidence-based recommendations were formulated using a quasi-Delphi consensus methodology...
June 16, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28521870/the-use-of-statins-alone-or-in-combination-with-pioglitazone-and-other-drugs-for-the-treatment-of-non-alcoholic-fatty-liver-disease-non-alcoholic-steatohepatitis-and-related-cardiovascular-risk-an-expert-panel-statement
#3
REVIEW
Vasilios G Athyros, Theodore K Alexandrides, Helen Bilianou, Evangelos Cholongitas, Michael Doumas, Emmanuel S Ganotakis, John Goudevenos, Moses S Elisaf, Georgios Germanidis, Olga Giouleme, Asterios Karagiannis, Charalambos Karvounis, Niki Katsiki, Vasilios Kotsis, Jannis Kountouras, Evangelos Liberopoulos, Christos Pitsavos, Stergios Polyzos, Loukianos S Rallidis, Dimitrios Richter, Apostolos G Tsapas, Alexandros D Tselepis, Konstantinos Tsioufis, Konstantinos Tziomalos, Themistoklis Tzotzas, Themistoklis G Vasiliadis, Charalambos Vlachopoulos, Dimitri P Mikhailidis, Christos Mantzoros
Non-alcoholic fatty liver disease (NAFLD), the most common liver disease, is characterized by accumulation of fat (>5% of the liver tissue), in the absence of alcohol abuse or other chronic liver diseases. It is closely related to the epidemic of obesity, metabolic syndrome or type 2 diabetes mellitus (T2DM). NAFLD can cause liver inflammation and progress to non-alcoholic steatohepatitis (NASH), fibrosis, cirrhosis or hepatocellular cancer (HCC). Nevertheless, cardiovascular disease (CVD) is the most common cause of death in NAFLD/NASH patients...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28473270/clinical-practice-guidelines-for-the-diagnosis-and-management-of-otitis-media-with-effusion-ome-in-children-in-japan-2015
#4
Makoto Ito, Haruo Takahashi, Yukiko Iino, Hiromi Kojima, Sho Hashimoto, Yosuke Kamide, Fumiyo Kudo, Hitome Kobayashi, Haruo Kuroki, Atsuko Nakano, Hiroshi Hidaka, Goro Takahashi, Haruo Yoshida, Takeo Nakayama
OBJECTIVE: To (1) indicate the definition, the disease state, methods of diagnosis, and testing for otitis media with effusion (OME) in childhood (<12 years); and (2) recommend methods of treatment in accordance with the evidence-based consensus reached by the Subcommittee of Clinical Practice Guideline for Diagnosis and Management of OME in Children. METHODS: We produced Clinical Questions (CQs) concerning the treatment of OME and searched the literature published until April 2014 according to each theme including CQ, the definition, the disease state, the method of diagnosis, and examination...
May 1, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28332275/thyroid-dysfunction-in-patients-with-down-syndrome-results-from-a-multi-institutional-registry-study
#5
Jenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi, Al Ozonoff, Nicole Baumer, Campbell Brasington, Sheila Cannon, Blythe Crissman, Emily Davidson, Jose C Florez, Priya Kishnani, Angela Lombardo, Jordan Lyerly, Mary Ellen McDonough, Alison Schwartz, Kathryn Berrier, Susan Sparks, Kara Stock-Guild, Tomi L Toler, Kishore Vellody, Lauren Voelz, Brian G Skotko
The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected for 663 individuals across five clinics specializing in the comprehensive care of individuals with DS for a period of 1 year. Of the 663 participants, 47.7% of participants had a TSH and free T4 ordered at their DS specialty clinic visit. Approximately 19.0% (60/316) had a new thyroid disorder diagnosis made...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28245458/endocrine-autoimmunity-in-down-s-syndrome
#6
Federica Guaraldi, Ruth Rossetto Giaccherino, Fabio Lanfranco, Giovanna Motta, Davide Gori, Emanuela Arvat, Enzio Ghigo, Roberta Giordano
Since the mid 1900s, a significant increase of infectious, hematological, and autoimmune diseases has been reported in patients with Down's syndrome (DS), independent of sex, age, family history, and exposure to other risk factors, suggesting an intrinsic alteration of the immune system. Several in vitro and in vivo studies have demonstrated alterations of both cellular and humoral immunological response mainly, although not exclusively, secondary to alterations of the expression of autoimmune regulator gene (located on chromosome 21), leading to thymic structural and functional impairments...
2017: Frontiers of Hormone Research
https://www.readbyqxmd.com/read/28135877/disparities-in-health-supervision-for-children-with-down-syndrome
#7
Katie Williams, David Wargowski, Jens Eickhoff, Ellen Wald
Increasing evidence suggests children with Down syndrome do not receive recommended health care services. We retrospectively assessed adherence to the 2001 American Academy of Pediatrics health supervision guidelines for 124 children with Down syndrome. Cervical spine radiographs were completed for 94% of children, often preoperatively. Adherence to complete blood count recommendations was 55% (95% CI 44% to 66%); lower for males ( P = .01) and children with private medical insurance ( P = .04). Adherence to thyroid function recommendations was 61% (95% CI 54% to 67%); higher for children seen by a pediatrician ( P = ...
January 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28124590/a-multicentre-italian-validation-study-in-aging-adults-with-down-syndrome-and-other-forms-of-intellectual-disabilities-dementia-screening-questionnaire-for-individuals-with-intellectual-disabilities
#8
Tiziano Gomiero, Marco Bertelli, Shoumitro Deb, Elisabeth Weger, Annachiara Marangoni, Elisa De Bastiani, Ulrico Mantesso, Luc Pieter De Vreese
BACKGROUND: The USA National Task Group (NTG) guidelines advocate the use of an adapted version of Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) for dementia screening of individuals with Down syndrome (DS) and with other forms of ID (non-DS). OBJECTIVE: In order to meet these guidelines, this study verifies the psychometric properties of an Italian version of the original DSQIID in a population composed of adults aged 40 years and over with DS and non-DS ID...
January 16, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28103494/factors-associated-with-meeting-physical-activity-guidelines-by-adults-with-intellectual-and-developmental-disabilities
#9
Roger J Stancliffe, Lynda L Anderson
BACKGROUND: Many individuals with intellectual and developmental disabilities (IDD) have sedentary lifestyles. AIMS: (a) compare adults with IDD with the general adult population on adherence to U.S. physical activity (PA) guidelines, and (b) determine what factors predict adherence to PA guidelines by adults with IDD. METHODS: We compared adults with IDD from the 2011-2012 National Core Indicators Adult Consumer Survey (NCI-ACS) with the general U...
March 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28090738/changes-in-objectively-measured-physical-activity-in-adolescents-with-down-syndrome-the-up-down-longitudinal-study
#10
R Izquierdo-Gomez, D Martinez-Gómez, I Esteban-Cornejo, P C Hallal, L García-Cervantes, A Villagra, O L Veiga
BACKGROUND: It is a priority to understand that physical activity behaviour over time is a priority in Down syndrome population in order to design and promote succesfull interventions to maintain or increase levels of physical activity. We aimed to study 1 and 2-year changes in objectively measured physical activity among a relatively large sample of adolescents with Down syndrome. METHODS: This study comprised a total of 99 adolescents with Down syndrome (38 girls) aged from 11 to 20 years old at baseline...
January 16, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28050066/antiphospholipid-syndrome-a-diagnostic-challenge
#11
REVIEW
R S Mallhi, Neerja Kushwaha, T Chatterjee, J Philip
The antiphospholipid syndrome (APS) is an acquired autoimmune thrombophilic disorder that is characterized by thrombosis (venous, arterial and microvascular) and obstetric morbidity due to a diverse family of antibodies against phospholipid-binding proteins present in plasma. The term antiphospholipid antibody is actually a misnomer as the antibodies are not against the phospholipid per se, but target the plasma protein co-factors, which bind to anionic PLs. The exact etiology has not been elucidated and is multifactorial...
December 2016: Medical Journal, Armed Forces India
https://www.readbyqxmd.com/read/27742522/use-and-implementation-of-standard-operating-procedures-and-checklists-in-prehospital-emergency-medicine-a-literature-review
#12
REVIEW
Chulin Chen, Ting Kan, Shuang Li, Chen Qiu, Li Gui
OBJECTIVES: This review aimed to analyze published literature to introduce the use and implementation of standard operating procedures (SOPs) and checklists in prehospital emergency medicine and their impact on guideline adherence and patient outcome. METHODS: An English literature search was carried out using the Cochrane Library, MEDLINE, EMBASE, Springer, Elsevier, and ProQuest databases. Original articles describing the use and implementation of SOPs or checklists in prehospital emergency medicine were included...
December 2016: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27566421/progress-in-pediatrics-in-2015-choices-in-allergy-endocrinology-gastroenterology-genetics-haematology-infectious-diseases-neonatology-nephrology-neurology-nutrition-oncology-and-pulmonology
#13
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Virginia Mirra, Sergio Bernasconi
This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature...
August 27, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27557142/blood-pressure-levels-and-body-mass-index-in-brazilian-adults-with-down-syndrome
#14
Felipe Pucci, Guilherme Machado, Edcarlo Solera, Fernanda Cenovicz, Christian Arruda, Chiu Braga, Renato Nisihara
CONTEXT AND OBJECTIVE: Increased life expectancy among people with Down syndrome (DS) has introduced new environmental factors that may affect blood pressure (BP) and/or lead to obesity in this population. The aim here was to investigate BP levels and body mass index (BMI) in adults with DS, correlating these data with the patients' sex and age. DESIGN AND SETTING: Analytical cross-sectional observational study conducted in special schools in Curitiba (PR), Brazil...
July 2016: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/27522492/the-role-of-glycoprotein-iib-iiia-inhibitors-in-acute-coronary-syndromes-and-the-interference-with-anemia
#15
REVIEW
Paolo Emilio Puddu, Loredana Iannetta, Attilio Placanica, Domenico Cuturello, Michele Schiariti, Olivia Manfrini
The role played by glycoprotein (GP) IIb/IIIa inhibitors (GPI) has continuously evolved until the most recent Guidelines whereby they were stepped down from class I to class II recommendation for treating acute coronary syndromes (ACS). GPI compete with a wider use of ADP inhibitors and novel anticoagulant drugs although GPI use has greatly narrowed. However, GPI may still have a role. Several criteria were proposed to define post-PCI anemia which is strictly related to bleeding and transfusion. In ACS, it should be important to define anemia in comparative terms versus baseline levels: ≥ 15% of red blood cell decrease should be a practical cut-off value...
November 1, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27412421/parents-perspectives-on-a-collaborative-approach-to-the-application-of-the-handwriting-without-tears-%C3%A2-programme-with-children-with-down-syndrome
#16
Sandra Patton, Eve Hutton
BACKGROUND: The active involvement of parents and children in goal setting and intervention is integral to contemporary occupational therapy process models. However, parental perspectives on collaborative handwriting intervention are limited. This paper presents parental perspectives on a three-way collaboration involving teachers, parents and an occupational therapist in the application of Handwriting Without Tears(®) (HWT(®) ) with children with Down syndrome. METHODS: Within a larger mixed methods study, 44 parents completed purpose-designed questionnaires and six parents participated in a focus group, post 8 months of programme implementation...
August 2016: Australian Occupational Therapy Journal
https://www.readbyqxmd.com/read/27398187/oral-health-in-children-with-physical-cerebral-palsy-and-intellectual-down-syndrome-disabilities-systematic-review-i
#17
REVIEW
Montserrat Diéguez-Pérez, Manuel-Joaquín de Nova-García, M Rosa Mourelle-Martínez, Begona Bartolomé-Villar
INTRODUCTION: Traditionally, patients with physical and/or intellectual disabilities presented greater oral pathology, owing to their condition and to other external factors. Improved social and health conditions make it necessary to update knowledge on their oral and dental health. MATERIAL AND METHODS: For this purpose, a bibliographic review was done regarding the state of oral health of children with these two types of disability, in comparison with a control group...
July 2016: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/27278630/screening-for-congenital-heart-disease-in-infants-with-down-syndrome-is-universal-echocardiography-necessary
#18
Soujanya Bogarapu, Nelangi M Pinto, Susan P Etheridge, Xiaoming Sheng, Kirk N Liesemer, Paul C Young, Elizabeth V Saarel
Current guidelines recommend that all neonates with Down syndrome (DS) be screened for congenital heart disease (CHD) with an echocardiogram. We sought to determine the effectiveness of a more accessible and less expensive screening strategy consisting of physical examination, electrocardiogram (ECG), and chest X-ray. The Intermountain Healthcare Enterprise Data Warehouse was used to identify infants with a positive karyotype for DS who were born between January 1, 2000, and June 30, 2012. Infants with the results of an echocardiogram, physical examination, ECG, and chest X-ray documented at age ≤6 months were included...
October 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27260508/adherence-to-symptom-based-care-guidelines-for-down-syndrome
#19
MULTICENTER STUDY
Stephanie L Santoro, Han Yin, Robert J Hopkin
To assess adherence to symptom-based studies recommended in the health supervision guidelines for Down syndrome from the American Academy of Pediatrics (AAP), 24 pediatric care sites participated in retrospective chart review. Symptom-based screening and 4 associated recommendations, including cervical spine radiograph, video swallow study, celiac study with tissue transglutaminase and sleep study were analyzed by reviewing well-child visit notes of 264 children with Down syndrome. Given trends toward symptom-based screens, Pearson's chi-square test and Fisher's exact test were used to determine the association between symptom presence and receiving corresponding symptom-based screens...
February 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/27217478/neonatal-phototherapy-and-infantile-cancer
#20
Andrea C Wickremasinghe, Michael W Kuzniewicz, Barbara A Grimes, Charles E McCulloch, Thomas B Newman
OBJECTIVE: To determine whether neonatal phototherapy is associated with cancer in the first year after birth. METHODS: We analyzed a data set from the California Office of Statewide Health Planning and Development that was created by linking birth certificates, death certificates, and hospital discharge abstracts up to age 1 year. Subjects were 5 144 849 infants born in California hospitals at ≥35 weeks' gestation from 1998 to 2007. We used International Classification of Diseases, Ninth Revision codes to identify phototherapy at <15 days and discharge diagnoses of cancer at 61 to 365 days...
June 2016: Pediatrics
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