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Downs syndrome

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https://www.readbyqxmd.com/read/28105968/situs-inversus-totalis-in-twins-a-brief-review-and-a-life-history-twin-research-twin-studies-of-trisomy-21-monozygotic-twin-concordance-for-bilateral-coronoid-hyperplasia-prenatal-hormonal-effects-in-mixed-sex-non-human-primate-litters-insurance-mandates-and
#1
Nancy L Segal
The presence of situs inversus totalis (full reversal of internal organs) in twins is briefly reviewed. Information gathered from 35-year-old monozygotic (MZ) female twin pair discordant for this condition is presented. This is followed by summaries of research on the frequency of trisomy 21 (Down syndrome) in twins, the first case of MZ twin concordance for bilateral coronoid hyperplasia, prenatal hormonal effects in mixed-sex non-human primate litters, and links between insurance mandates and twinning following in vitro fertilization...
February 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28104984/role-of-mast-cell-mir-490-5p-in-irritable-bowel-syndrome
#2
Hai-Xia Ren, Fa-Can Zhang, He-Sheng Luo, Guo Zhang, Lie-Xin Liang
AIM: To determine the functional role of miR-490-5p in mast cell proliferation and apoptosis, and in the mast cell tryptase/PAR-2 signal pathway. METHODS: The 3(rd) generation of lentivirus vector systems containing enhanced green fluorescent protein (EGFP) (Ruisai Inc., Shanghai, China), which acts as a reporter gene was used to construct the mmu-miR-490-5p lentivirus expression vector pEGFP-antagomiR-490-5p, and the lentivirus vector pEGFP-negative was used as a negative control...
January 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28103494/factors-associated-with-meeting-physical-activity-guidelines-by-adults-with-intellectual-and-developmental-disabilities
#3
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...
January 16, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28103457/-congenital-heart-disease-in-children-with-down-syndrome-what-has-changed-in-the-last-three-decades
#4
Filipa Mestre Dias, Susana Cordeiro, Isabel Menezes, Graça Nogueira, Ana Teixeira, Marta Marques, Miguel Abecasis, Rui Anjos
INTRODUCTION: The prevalence of Down syndrome has increased in the last 30 years; 55% of these children have congenital heart disease. MATERIAL AND METHODS: A retrospective longitudinal cohort study; clinical data from 1982 to 2013 databases with the diagnosis of Down syndrome or trisomy 21 in a reference hospital in pediatric cardiology and cardiac surgery. OBJECTIVE: to assess the progress in the last three decades of cardiological care given to children with Down syndrome and congenital heart disease...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28101777/comorbidities-in-down-syndrome-livebirths-and-health-care-intervention-an-initial-experience-from-the-birth-defects-registry-in-southern-thailand
#5
Somchit Jaruratanasirikul, Wannee Limpitikul, Pathikan Dissaneevate, Paveena Booncharoen, Pongsak Tantichantakarun
BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births. This study aimed to determine the comorbidities associated with DS and the coverage of health care services and developmental interventions for DS livebirths in southern Thailand. METHODS: A total of 149 livebirth DS infants, recruited through the prospective birth defects registry system during 2009-2013 in 3 provinces in southern Thailand, were regularly followed-up every 3-6 months...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28100513/loss-of-ranbp2-in-motor-neurons-causes-the-disruption-of-nucleocytoplasmic-and-chemokine-signaling-and-proteostasis-of-hnrnph3-and-mmp28-and-the-development-of-amyotrophic-lateral-sclerosis-als-like-syndromes
#6
Kyoung-In Cho, Dosuk Yoon, Sunny Qiu, Zachary Danziger, Warren M Grill, William C Wetsel, Paulo A Ferreira
The pathogenic drivers of sporadic and familial motor neuron disease (MND), such ALS, are unknown. MND impair the Ran GTPase cycle, which controls nucleocytoplasmic transport, ribostasis and proteostasis; however, cause-effect mechanisms of Ran GTPase modulators in motoneuron pathobiology are heretofore elusive. The cytosolic and peripheral nucleoporin, Ranbp2, is a critical regulator of the Ran GTPase cycle and proteostasis of neurological disease-prone substrates, but the roles of Ranbp2 in motoneuron biology and disease remain unknown...
January 18, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28100193/long-time-sickness-absence-among-parents-of-pre-school-children-with-cerebral-palsy-spina-bifida-and-down-syndrome-a-longitudinal-study
#7
Idunn Brekke, Elena Albertini Früh, Lisbeth Gravdal Kvarme, Henrik Holmstrøm
BACKGROUND: Taking care of a child with special needs can be draining and difficult and require a lot of parental time and resources. The present study investigated the long-term sickness absence of parents who have children with spina bifida, cerebral palsy and Down syndrome compared to that of parents without a child with special needs. METHODS: The sample consisted of primiparae women who gave birth between 2001 and 2005 and the fathers of the children (N = 202,593)...
January 18, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28099543/a-rare-association-in-down-syndrome-milialike-idiopathic-calcinosis-cutis-and-palpebral-syringoma
#8
Enver Turan, Nurdan Yurt, Yavuz Yeşilova, Osman Tanrıkulu
No abstract text is available yet for this article.
December 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28096319/rotator-cuff-impingement-associated-with-type-iii-acromial-morphology-in-a-young-athlete-a-case-for-early-imaging
#9
James Inklebarger, Giles Gyer, Anand Parkunan, Nikiforos Galanis, Jimmy Michael
Down-sloped or hooked acromion morphologies may cause bony encroachment on the soft tissues of the subacromial space, predisposing to shoulder impingement syndrome. Of the latter, a hooked or Type III acromion (T3A) has also been linked to rotator cuff (RC) pathology. However, as bony acromial impingement is typically thought to occur over the age of 40, its occurrence in younger shoulder athletes presenting with shoulder pain, impingement and RC pathology may be overlooked. This case serves to illustrate the occurrence of T3A in a younger shoulder athlete, and the importance of early imaging in achieving diagnostic accuracy...
January 16, 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28096232/pr-957-a-selective-inhibitor-of-immunoproteasome-subunit-low-mw-polypeptide-7-attenuates-experimental-autoimmune-neuritis-by-suppressing-th17-cell-differentiation-and-regulating-cytokine-production
#10
Haijie Liu, Chunxiao Wan, Yanan Ding, Ranran Han, Yating He, Jinting Xiao, Junwei Hao
Experimental autoimmune neuritis (EAN) is a CD4(+) T cell-mediated autoimmune inflammatory demyelinating disease of the peripheral nervous system. It has been replicated in an animal model of human inflammatory demyelinating polyradiculoneuropathy, Guillain-Barré syndrome. In this study, we evaluated the therapeutic efficacy of a selective inhibitor of the immunoproteasome subunit, low-MW polypeptide 7 (PR-957) in rats with EAN. Our results showed that PR-957 significantly delayed onset day, reduced severity and shortened duration of EAN, and alleviated demyelination and inflammatory infiltration in sciatic nerves...
January 17, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28092926/effect-of-gravity-and-microgravity-on-intracranial-pressure
#11
Justin S Lawley, Lonnie G Petersen, Erin J Howden, Satyam Sarma, William K Cornwell, Rong Zhang, Louis A Whitworth, Michael A Williams, Benjamin D Levine
Astronauts have recently been discovered to have impaired vision, with a presentation that resembles syndromes of elevated intracranial pressure (ICP). This syndrome is considered the most mission critical medical problem identified in the past decade of manned spaceflight. We recruited five men and three women who had an Ommaya reservoir inserted for the delivery of prophylactic central nervous system chemotherapy, but were free of their malignant disease for at least 1 year. ICP was assessed by placing a fluid-filled 25 ga butterfly needle into the Ommaya reservoir...
January 16, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28092296/qualitative-analysis-of-parental-observations-on-quality-of-life-in-australian-children-with-down-syndrome
#12
Nada Murphy, Amy Epstein, Helen Leonard, Elise Davis, Dinah Reddihough, Andrew Whitehouse, Peter Jacoby, Jenny Bourke, Katrina Williams, Jenny Downs
OBJECTIVE: There are many challenges to health, functioning, and participation for children with Down syndrome; yet, the quality-of-life (QOL) domains important for this group have never been clearly articulated. This study investigated parental observations to identify QOL domains in children with Down syndrome and determined whether domains differed between children and adolescents. METHODS: The sample comprised 17 families whose child with Down syndrome was aged 6 to 18 years...
January 12, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28092260/-down-syndrome-and-heart-block-secondary-to-neonatal-lupus
#13
Carla Lucila Illana-Bravo, Socorro Méndez-Martínez, María Enriqueta Juan-Martínez
In Down syndrome, so far, has not been reported it's association with congenital heart block, this entity is rare and occurred in only 1% of mothers who have systemic lupus erythematosus, the presence of anti-Ro antibodies cross the placenta presenting neonatal lupus with skin lesions and congenital heart block, bradycardia, which is why we describe the following case. This is a new male end product of asymptomatic young mother, but serological birth with stigmata of Down syndrome, birth presents congenital bradycardia rare manifestation abnormalities, but common in children of mothers with lupus are initiated study protocol, realizing you including laboratory tests and immunological studies cabinet as electrocardiogram and echocardiogram, which gave tone to take the mother immunological studies, being positive antiRo...
January 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28091723/changes-in-the-severity-and-subtype-of-guillain-barr%C3%A3-syndrome-admitted-to-a-specialist-neuromedical-icu-over-a-25%C3%A2-year-period
#14
C J Taylor, N P Hirsch, D M Kullmann, Robin S Howard
We report a retrospective review of 110 patients with acute Guillain-Barré syndrome (GBS) admitted to a specialised intensive care unit (ICU) in a tertiary referral centre over a 25 year period, the start of which coincided with the widespread introduction of plasma exchange (PE) and intravenous immunoglobulin (IVIG). The results were analysed by comparing 52 patients admitted in the first decade (1991-2000; Group 1) with 58 patients admitted between 2001-2014 (Group 2). Patients in both groups were comparable with respect to age and sex, and had a similar incidence and range of ICU complications...
January 16, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28090738/changes-in-objectively-measured-physical-activity-in-adolescents-with-down-syndrome-the-up-down-longitudinal-study
#15
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/28087733/metformin-restores-the-mitochondrial-network-and-reverses-mitochondrial-dysfunction-in-down-syndrome-cells
#16
Antonella Izzo, Maria Nitti, Nunzia Mollo, Simona Paladino, Claudio Procaccini, Deriggio Faicchia, Gaetano Calì, Rita Genesio, Ferdinando Bonfiglio, Rita Cicatiello, Elena Polishchuk, Roman Polishchuk, Paolo Pinton, Giuseppe Matarese, Anna Conti, Lucio Nitsch
Alterations in mitochondrial activity and morphology have been demonstrated in human cells and tissues from individuals with Down syndrome (DS), as well as in DS mouse models. An impaired activity of the transcriptional coactivator PGC-1α/PPARGC1Adue to the overexpression of chromosome 21 genes, such as NRIP1/RIP140, has emerged as an underlying cause of mitochondrial dysfunction in DS. We tested the hypothesis that the activation of the PGC-1α pathway might indeed reverse this mitochondrial dysfunction.
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28081181/aronia-melanocarpa-extract-ameliorates-hepatic-lipid-metabolism-through-ppar%C3%AE-2-downregulation
#17
Chung-Hwa Park, Jung-Hee Kim, Eun Byul Lee, Wonhee Hur, Oh-Joo Kwon, Hyoung-Jin Park, Seung Kew Yoon
Nonalcoholic fatty liver disease (NAFLD) is a hepatic manifestation of metabolic syndrome. Studies have demonstrated that anthocyanin-rich foods may improve hyperlipidemia and ameliorate hepatic steatosis. Here, effects of Aronia melanocarpa (AM), known to be rich of anthocyanins, on hepatic lipid metabolism and adipogenic genes were determined. AM was treated to C57BL/6N mice fed with high fat diet (HFD) or to FL83B cells treated with free fatty acid (FFA). Changes in levels of lipids, enzymes and hormones were observed, and expressions of adipogenic genes involved in hepatic lipid metabolism were detected by PCR, Western blotting and luciferase assay...
2017: PloS One
https://www.readbyqxmd.com/read/28079865/differences-in-mortality-characteristics-in-neonates-with-down-s-syndrome
#18
C L Cua, U Haque, S Santoro, L Nicholson, C H Backes
OBJECTIVE: Neonates with Down's syndrome (nDS) may have multiple medical issues that place them at increased risk for mortality during the newborn period. Goal of this study was to determine if there are differences in baseline characteristics, medical complications or procedures performed during hospitalization between nDS who survived versus those who died during initial hospitalization. STUDY DESIGN: Data from 2000 to 2014 were reviewed using the Pediatric Health Information Systems (PHIS) database on all DS patients admitted to the hospital <30 days postnatal life...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28078966/visual-and-cross-modal-cues-increase-the-identification-of-overlapping-visual-stimuli-in-balint-s-syndrome
#19
Daniela D'Imperio, Michele Scandola, Valeria Gobbetto, Cristina Bulgarelli, Matteo Salgarello, Renato Avesani, Valentina Moro
INTRODUCTION: Cross-modal interactions improve the processing of external stimuli, particularly when an isolated sensory modality is impaired. When information from different modalities is integrated, object recognition is facilitated probably as a result of bottom-up and top-down processes. The aim of this study was to investigate the potential effects of cross-modal stimulation in a case of simultanagnosia. METHOD: We report a detailed analysis of clinical symptoms and an (18)F-fluorodeoxyglucose (FDG) brain positron emission tomography/computed tomography (PET/CT) study of a patient affected by Balint's syndrome, a rare and invasive visual-spatial disorder following bilateral parieto-occipital lesions...
January 12, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28078918/dietary-practices-of-children-and-adolescents-with-down-syndrome
#20
Marina Lummertz Magenis, Alessandra Gonçalves Machado, Angela Martinha Bongiolo, Marco Antonio da Silva, Kamila Castro, Ingrid Dalira Schweigert Perry
The aim of this study was to assess dietary intake, breastfeeding history, weight at birth and current weight in children and adolescents with Down syndrome (DS). Therefore, a cross-sectional, controlled study with 19 DS participants and 19 controls without DS matched by gender and age was performed. Except for vitamin D, a lower or the same frequency of insufficient intake in other micronutrients was noted in participants compared with controls. The DS group had a reduced exclusive breastfeeding duration and increased carbohydrate and caloric intake...
January 1, 2017: Journal of Intellectual Disabilities: JOID
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