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https://www.readbyqxmd.com/read/28636122/hidradenitis-suppurativa-in-down-syndrome-a-case-series
#1
Issam Hamadah, Mansoor Haider, Muzamil Chisti, Yousef Binamer
BACKGROUND/OBJECTIVES: Many dermatologic and systemic diseases have been reported in association with hidradenitis suppurativa, but its association with Down syndrome is rarely mentioned in the literature. The objective of the current study was to assess the frequency of hidradenitis suppurativa in patients with Down syndrome who visited our clinic over 4 years. METHODS: We recorded the presenting complaints and dermatologic problems of patients with Down syndrome who visited our clinic from January 2011 to December 2014...
June 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28635537/prenatal-diagnosis-tests-and-women-s-risk-perception-a-cross-sectional-study
#2
Simona Fumagalli, Laura Antolini, Antonella Nespoli, Patrizia Vergani, Enrico Ferrazzi, Sara Oggioni, Anna Locatelli
OBJECTIVE: To investigate women's decision to undergo non-invasive and/or invasive tests for prenatal diagnosis depending on the procedure-related risk and the risk of carrying a foetus with Down syndrome (DS). Both risks are rated in terms of numerical relevance and acceptability. METHOD: A sample of 448 consecutive women with low-risk pregnancies were interviewed to collect social and clinical variables and to determine their perceptions of the risks of invasive procedure-related miscarriage and carrying a foetus with DS...
February 22, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#3
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/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#4
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28632506/adenotonsillectomy-for-the-management-of-pulmonary-hypertension-in-a-patient-with-complex-congenital-heart-disease-a-case-report
#5
Adam C Adler, Yuan-Jiun Nicole Chao
Pulmonary hypertension is a feared complication in congenital heart disease patients. Patients with pulmonary hypertension are at risk for major perioperative cardiopulmonary complications when undergoing any surgical procedure, especially airway and laparoscopic procedures. We present the anesthetic management for a 2-year old with Down syndrome and complex cyanotic congenital heart disease undergoing tonsillectomy and adenoidectomy for severe obstructive sleep apnea.
June 19, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28627379/microvascular-changes-in-down-syndrome-with-alzheimer-type-pathology-insights-into-a-potential-vascular-mechanism-for-down-syndrome-and-alzheimer-s-disease
#6
David A Drachman, Thomas W Smith, Bassam Alkamachi, Kevin Kane
INTRODUCTION: The mechanism triggering degeneration in Alzheimer's disease (AD) remains uncertain. Therapeutic failure following β amyloid (Aβ) removal casts doubt on amyloid neurotoxicity per se as the primary cause of AD. Impaired microvascular function has been suggested as an alternative etiology. People with Down syndrome (DS) develop Alzheimer pathology, but whether microvascular impairment also occurs in DS (as in AD) is unknown. METHODS: We examined brain microvasculature in five DS subjects with AD-type histopathology, seven AD cases, and seven controls without AD-type pathology...
June 13, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28627199/hand-span-influences-optimal-grip-span-in-adolescents-with-down-syndrome
#7
José Antonio Casajús, Germán Vicente-Rodríguez, Alejandro González-Agüero, Ángel Matute-Llorente
INTRODUCTION: The hand grip strength test provides useful and reliable information about overall health. Different studies have investigated the optimal grip span for determining maximal hand grip strength in different populations such as adults, adolescents and children without disabilities. OBJECTIVE: To ascertain whether there is an optimal grip span for determining maximal hand grip strength in adolescents with Down syndrome (DS). METHODS: Twenty-seven right-handed youths with DS (seven females) aged 15...
June 5, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/28626802/cohesin-mutations-in-myeloid-malignancies
#8
Joseph B Fisher, Maureen McNulty, Michael J Burke, John D Crispino, Sridhar Rao
Acute Myeloid Leukemia (AML) is a hematologic malignancy with a poor prognosis. Recent genome-wide sequencing studies have identified frequent mutations in genes encoding members of the cohesin complex. Mutations in cohesin contribute to myeloid malignancies by conferring enhanced self-renewal of hematopoietic stem and progenitor cells but the mechanisms behind this phenotype have not been fully elucidated. Of note, cohesin mutations are highly prevalent in acute megakaryocytic leukemia associated with Down syndrome (DS-AMKL), where they occur in over half of patients...
April 2017: Trends in Cancer
https://www.readbyqxmd.com/read/28625468/necrotizing-tenon-s-capsule-infection-in-a-lymphopenic-down-syndrome-patient-following-strabismus-surgery
#9
Melinda Y Chang, Wenjing Liu, Ben J Glasgow, Sherwin J Isenberg, Federico G Velez
No abstract text is available yet for this article.
June 15, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28624415/aging-rather-than-aneuploidy-affects-monoamine-neurotransmitters-in-brain-regions-of-down-syndrome-mouse-models
#10
Alain D Dekker, Yannick Vermeiren, Christelle Albac, Eva Lana-Elola, Sheona Watson-Scales, Dorota Gibbins, Tony Aerts, Debby Van Dam, Elizabeth M C Fisher, Victor L J Tybulewicz, Marie-Claude Potier, Peter P De Deyn
Altered concentrations of monoamine neurotransmitters and metabolites have been repeatedly found in people with Down syndrome (DS, trisomy 21). Because of the limited availability of human post-mortem tissue, DS mouse models are of great interest to study these changes and the underlying neurobiological mechanisms. Although previous studies have shown the potential of Ts65Dn mice - the most widely used mouse model of DS - to model noradrenergic changes, a comprehensive monoaminergic characterization in multiple brain regions has not been performed so far...
June 14, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28624322/assessing-pragmatic-communication-in-children-with-down-syndrome
#11
Elizabeth Smith, Kari-Anne B Næss, Christopher Jarrold
PURPOSE: Successful communication depends on language content, language form, and language use (pragmatics). Children with Down syndrome (DS) experience communication difficulties, however little is known about their pragmatic profile, particularly during early school years. The purpose of the present study was to explore the nature of pragmatic communication in children with DS. METHOD: Twenty-nine six-year-old children with DS were assessed, in the areas of 1) initiation, 2) scripted language, 3) understanding context and 4) nonverbal communication, as reported by children's parents via the Children's Communication Checklist-2 (Bishop, 2003)...
June 9, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/28624204/crispr-cas9-directed-reassignment-of-the-gata1-initiation-codon-in-k562-cells-to-recapitulate-aml-in-down-syndrome
#12
Kevin M Bloh, Pawel A Bialk, Anilkumar Gopalakrishnapillai, E Anders Kolb, Eric B Kmiec
Using a CRISPR/Cas9 system, we have reengineered a translational start site in the GATA1 gene in K562 cells. This mutation accounts largely for the onset of myeloid leukemia in Down syndrome (ML-DS). For this reengineering, we utilized CRISPR/Cas9 to generate mammalian cell lines that express truncated versions of the Gata1s protein similar to that seen in ML-DS, as determined by analyzing specific genetic alterations resulting from CRISPR/Cas9 cleavage. During this work, 73 cell lines were clonally expanded, with allelic variance analyzed...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28621421/roles-of-dscam-in-axonal-decussation-and-fasciculation-of-chick-spinal-interneurons
#13
Oksana Cohen, Lilach Vald, Masahito Yamagata, Joshua R Sanes, Avihu Klar
The ventral midline of the embryonic neural tube, the floor plate, has a profound role in guiding axons during embryonic development. Floor plate-derived guidance cues attract or repel axons, depending on the neuronal subtype and developmental stage. Netrin-1 and its receptor, Deleted in Colon Carcinoma (DCC), are the key constituents of commissurral axons guidance cues toward the floor plate. Recent studies have implicated Down Syndrome Cell Adhesion Molecule (Dscam) as an additional Netrin-1 receptor. In this study, we examined the role of Dscam in guiding defined spinal dorsal interneuron populations...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28619123/chd-and-respiratory-syncytial-virus-global-expert-exchange-recommendations
#14
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/28618319/distress-and-everyday-problems-in-dutch-mothers-and-fathers-of-young-adolescents-with-down-syndrome
#15
Jan Pieter Marchal, Hedy A van Oers, Heleen Maurice-Stam, Martha A Grootenhuis, A S Paul van Trotsenburg, Lotte Haverman
BACKGROUND: To provide targeted support to parents of children with DS, knowledge of their distress and everyday problems is crucial. For this purpose, psychosocial screening instruments can be a valuable addition to routine clinical practice. AIMS: To determine differences on a psychosocial screener concerning distress and everyday problems in parents of young adolescents (YAs) with DS versus control parents and in mothers of YAs with DS versus fathers. METHODS AND PROCEDURES: We compared outcomes of the Distress Thermometer for Parents in 76 mothers and 44 fathers of 11-13-year-olds with DS versus 64 mothers and 52 fathers of age-matched children without DS (comparing mothers and fathers separately)...
June 12, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28617944/inequity-in-timing-of-prenatal-screening-in-new-zealand-who-are-our-most-vulnerable
#16
Olivia Payne, Avinesh Pillai, Michelle Wise, Peter Stone
BACKGROUND: In New Zealand (NZ), Maori and Pacific women are less likely to complete prenatal screening for Down's syndrome and other aneuploidies than other ethnic groups. Young women <20 have low rates of completed screening compared with women >20 years. Women living in deprived areas have lower completed screen rates than women living in more affluent areas. Combined first trimester screening has a superior sensitivity (85%) compared with second trimester screening (75%) for trisomy 21...
June 15, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28617347/repetitive-behaviours-and-restricted-interests-in-individuals-with-down-syndrome-one-way-of-managing-their-world
#17
Sheila Glenn
This paper argues that the repetitive behaviour and restrictive interests (RBRI) displayed by individuals with Down syndrome have mostly positive functions. However, as research has developed from interests in Obsessional Compulsive Disorder or Autistic Spectrum Disorder, unfortunately a view has arisen that RBRI in individuals with Down syndrome are also likely to be pathological. This is particularly the case in adults. The paper reviews: (a) measures employed and the perspectives that have been used; (b) the development in typically developing individuals, those with Down syndrome, and those with other conditions associated with intellectual disability; (c) positive and possible negative effects of RBRI; and (d) the need for more research...
June 15, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28616831/invasive-prenatal-diagnostic-testing-recommendations-are-influenced-by-maternal-age-statistical-misconception-and-perceived-liability
#18
Talya Miron-Shatz, Sivan R Rapaport, Naama Srebnik, Yaniv Hanoch, Jonina Rabinowitz, Glen M Doniger, Linda Levi, Jonathan J Rolison, Avi Tsafrir
Funding policy and medico-legal climate are part of physicians' reality and might permeate clinical decisions. This study evaluates the influence of maternal age and government funding on obstetrician/gynecologist recommendation for invasive prenatal testing (i.e. amniocentesis) for Down syndrome (DS), and its association with the physician's assessment of the risk of liability for medical malpractice unless they recommend amniocentesis. Israeli physicians (N = 171) completed a questionnaire and provided amniocentesis recommendations for women at 18 weeks gestation with normal preliminary screening results, identical except aged 28 and 37...
June 14, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28616649/earlier-pulmonary-valve-replacement-in-down-syndrome-patients-following-tetralogy-of-fallot-repair
#19
Rachel T Sullivan, Peter C Frommelt, Garick D Hill
The association between Down syndrome and pulmonary hypertension could contribute to more severe pulmonary regurgitation after tetralogy of Fallot repair and possibly earlier pulmonary valve replacement. We compared cardiac magnetic resonance measures of pulmonary regurgitation and right ventricular dilation as well as timing of pulmonary valve replacement between those with and without Down syndrome after tetralogy of Fallot repair. Review of our surgical database from 2000 to 2015 identified patients with tetralogy of Fallot with pulmonary stenosis...
June 14, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28614251/analysis-of-down-syndrome-failed-to-be-diagnosed-after-prenatal-screening-a-multicenter-study
#20
Tao Jiang, Jie Ding, Xiao-Qing Zhang, Xiao-Juan Zhang, Bin Zhang, Ting Wang, Bin Yu
To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS. In this multicenter study, we collected the missed cases from 3 prenatal diagnosis centers and analyzed their characters. A total of 126 DS babies failed to be diagnosed after prenatal screening. Their mothers accepted the prenatal screening in second trimester. We collected the mothers' blood and detected the levels of alpha-fetoprotein (AFP) and the free beta subunit of human chorionic gonadotropin (fβhCG) by time-resolved fluoroimmunoassay...
June 2017: Medicine (Baltimore)
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