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down syndrome adults

Anita F Oliveira, Aline Tansini, Daniel O Vidal, Luiz F Lopes, Konradin Metze, Irene Lorand-Metze
BACKGROUND: Immunophenotyping of bone marrow (BM) hemopoietic precursors is useful for diagnosis of adult myelodysplastic syndrome (MDS), but data concerning pediatric patients are limited. We analyzed immunophenotypic features of BM cells at diagnosis of children who were referred to the Brazilian Pediatric Cooperative Group of Myelodysplastic Syndromes. METHODS: Diagnosis was based on clinical information, peripheral blood counts, BM cytology and cytogenetics...
October 17, 2016: Pediatric Blood & Cancer
Veerasathpurush Allareddy, Nicholas Ching, Eric A Macklin, Lauren Voelz, Gil Weintraub, Emily Davidson, Lisa Albers Prock, Dennis Rosen, Richard Brunn, Brian G Skotko
OBJECTIVE: The objective of the present study is to examine the craniofacial development of patients with Down syndrome (DS) and compare them with a neurotypical population. METHODS: This study is a cross-sectional analysis of lateral cephalometric radiographs of participants with DS. The study population consisted of children and young adults with DS aged 3-25 years. Cephalometric data were summarized by age and sex. Raw and normalized z-scores were computed. One-sample t tests were used to test whether mean z-scores differed from zero...
December 2016: Progress in Orthodontics
M Khalid-Raja, K Tzifa
OBJECTIVE: This study aimed to evaluate the activity of paediatric otolaryngology services required for children with Down's syndrome in a tertiary referral centre. METHODS: A review of the paediatric otolaryngology input for children with Down's syndrome was performed; data were obtained from the coding department for a two-year period and compared with other surgical specialties. RESULTS: Between June 2011 and May 2013, 106 otolaryngology procedures were performed on children with Down's syndrome...
October 6, 2016: Journal of Laryngology and Otology
Mateus Rossato, Rodolfo André Dellagrana, Rafael Martins da Costa, Ewertton de Souza Bezerra, João Otacílio Libardoni Dos Santos, Cassiano Ricardo Rech
BACKGROUND: The aim of this study was to verify the accuracy of anthropometric equations to estimate the body density (BD) of adults with Down syndrome (DS), and propose new regression equations. MATERIALS AND METHODS: Twenty-one males (30.5 ± 9.4 years) and 17 females (27.3 ± 7.7 years) with DS participated in this study. The reference method for BD was air displacement plethysmography (ADP). Also, the BD was estimated by anthropometric equations. The body fat percentage (BF %) was estimated by the Siri equation...
October 4, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
Justine Niemczyk, Alexander von Gontard, Monika Equit, David Medoff, Catharina Wagner, Leopold Curfs
AIMS: To assess the rates of incontinence and associated psychological problems in children, adolescents and adults with Down Syndrome, a genetic syndrome caused by partial or complete triplication (trisomy) of chromosome 21 and characterized by typical facial features, a physical growth delay and mild or moderate intellectual disability. METHODS: Three hundred and seventeen persons with Down Syndrome (4-51 years) were recruited through a German parent support group (59...
October 4, 2016: Neurourology and Urodynamics
Shallini Mittal, Gunjan Jindal, Amit Mittal, Rikki Singal, Samita Singal
Annular pancreas is a developmental anomaly that can be associated with other conditions such as Down syndrome, duodenal atresia, and Hirschsprung disease. A band of pancreatic tissue, in continuity with the pancreatic head, completely or incompletely encircles the descending duodenum, sometimes assuming a "crocodile jaw" configuration. We present the case of an adult who presented with epigastric pain and vomiting and was found to have annular pancreas.
October 2016: Proceedings of the Baylor University Medical Center
Nanda C de Knegt, Frank Lobbezoo, Carlo Schuengel, Heleen M Evenhuis, Erik J A Scherder
OBJECTIVE:  The aim was to examine whether the presence of pain (based on physical conditions and participants' report) and self-reported pain experience in adults with Down syndrome (DS) differ from general population controls. DESIGN:  Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) and 142 age-matched controls (median age = 40.5 years, mean estimated IQ = 105.7) in the Netherlands. METHODS:  File-based medical information was evaluated...
October 2, 2016: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
Walter Chingwaru, Jerneja Vidmar
Zimbabwe is going through a generalised acquired immunodeficiency syndrome (AIDS) epidemic. The first five years of the epidemic (1985-1990) were characterised by lack of medicines against human immunodeficiency virus (HIV), and an exponential increase in prevalence (65-fold) and incidence (13-fold), which were fuelled by high-risk sexual behaviour. The high HIV prevalence, mortality and stigma yielded great fear and panic in the population, which are thought to have led to confusion and hopelessness, and, in turn, increased risky sexual behaviour...
August 11, 2016: Global Public Health
I Sukhotnik, T Dorfman, Salim Halabi, Y Pollak, H Kreizman Shefer, A G Coran, D Berkowitz
PURPOSE: The hedgehog (Hh) signaling pathway is one of the key regulators of gastrointestinal tract development. Recent studies point to the role of hedgehog signaling in regulating adult stem cells involved in maintenance and regeneration of intestinal stem cells. The purpose of this study was to evaluate the role of Hh signaling during intestinal adaptation in a rat model of short bowel syndrome (SBS). METHODS: Male rats were divided into two groups: Sham rats underwent bowel transection and SBS rats underwent a 75 % bowel resection...
September 19, 2016: Pediatric Surgery International
Adam Love, Stamatis Agiovlasitis
Adults with Down syndrome (DS) tend to have low physical activity levels, which may relate to how they perceive participation in physical activities. The current study entailed interviews with 30 adults with DS (age 18-71 yr, 18 women) to examine how they perceived physical activity, exercise, and sport. Through qualitative analysis informed by grounded theory, the investigators found that adults with DS have positive perceptions of physical activity that center on enjoyment. Three facets of enjoyment were identified: interaction, achievement, and process...
July 2016: Adapted Physical Activity Quarterly: APAQ
Lourdes Gutiérrez-Vilahú, Núria Massó-Ortigosa, Lluís Costa-Tutusaus, Miriam Guerra-Balic, Ferran Rey-Abella
The purpose of the study was to compare postural control in static standing in young adults with and without Down syndrome (DS), with eyes closed and eyes open, before and after an 18-wk dance-based training program. The study included 11 young people with DS age 20.5 (1.3) yr and 11 without DS age 20.2 (2.0) yr. All parameters were recorded before and after the training program. Parameters related to center of pressure (COP; closed and open eyes) were recorded from a platform with the participant in bipedal standing position during 30 s...
July 2016: Adapted Physical Activity Quarterly: APAQ
Carlos Ayán-Pérez, R Iván Martínez-Lemos, José M Cancela-Carral
BACKGROUND: There is limited evidence about the psychometric properties of field tests to measure cardiorespiratory fitness in people with Down syndrome. OBJECTIVE: This study aimed at analyzing the reliability and convergent validity of the 6-min run test when performed by young adults with Down syndrome (DS). METHODS: In a cross-sectional design fifty-one young adults with DS (mean age 26.20 ± 7.14 years; 54% women) performed the 6-min run test and the 16-min shuttle run test twice with a one week-interval between test and retest...
August 10, 2016: Disability and Health Journal
Martha Patricia Solís-Arias, Maria Teresa García-Romero
Onychomycosis is considered an age-related infection with increasing prevalence in the older age groups. It is rare in the pediatric population, except in children with Down syndrome and with immunodeficiencies, who are more likely to have fungal nail infections. The number of reports about onychomycosis in children is relatively small, and the epidemiologic data vary, but a rise in prevalence has been demonstrated. In this article, we review the most up-to-date literature and summarize the epidemiology, etiology, clinical presentation, diagnosis, and treatment of onychomycosis in children, as well as the differences with the disease presenting in adults...
September 9, 2016: International Journal of Dermatology
Samantha D McElyea, John M Starbuck, Danika M Tumbleson-Brink, Emily Harrington, Joshua D Blazek, Ahmed Ghoneima, Katherine Kula, Randall J Roper
Trisomy 21 (Ts21) affects craniofacial precursors in individuals with Down syndrome (DS). The resultant craniofacial features in all individuals with Ts21 may significantly affect breathing, eating and speaking. Using mouse models of DS, we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural crest cell (NCC) craniofacial precursors early in development. Hypothetically, three copies of Dyrk1a (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A), a trisomic gene found in most humans with DS and mouse models of DS, may significantly affect craniofacial structure...
September 5, 2016: Human Molecular Genetics
Matheus Machado Gomes, Renato Moraes, José Angelo Barela
BACKGROUND: Prior studies suggest that infants with Down syndrome (DS) need more experience to acquire a similar relationship between visual information and body sway than infants without DS. However, it is unclear how adults with DS deal with visual information to control posture. AIM: To examine the coupling between visual information and body sway in adults with DS. METHODS: Twenty adults with DS (25.8±4.0years) and twenty age- and sex-matched controls (25...
November 2016: Research in Developmental Disabilities
Xin Xu, Zhiyu Li, Yue Leng, Corey P Neu, Sarah Calve
The pericellular matrix (PCM) is a component of the extracellular matrix that is found immediately surrounding individual chondrocytes in developing and adult cartilage, and is rich in the proteoglycan perlecan. Mutations in perlecan are the basis of several developmental disorders, which are thought to arise from disruptions in the mechanical stability of the PCM. We tested the hypothesis that defects in PCM organization will reduce the stiffness of chondrocytes in developing cartilage by combining a murine model of Schwartz-Jampel syndrome, in which perlecan is knocked down, with our novel atomic force microscopy technique that can measure the stiffness of living cells and surrounding matrix in embryonic and postnatal tissues in situ...
October 15, 2016: Developmental Biology
E R Villani, G Onder, A Carfì, C Di Segni, S Raimondo, A Silvestrini, E Meucci, A Mancini
People with Down syndrome (DS) show lower bone mass density (BMD) and a higher prevalence of hypothyroidism compared to general population. Furthermore, DS is a well-known high oxidative stress (OS) condition because genes involved in OS map on chromosome 21. Thyroid function too is involved in OS. Since both thyroid function and OS lead to lower BMD and osteoporotic fractures, we have explored correlations among BMD, thyroid hormones, and parameters of OS in DS adults. A total of 105 DS patients (48 males; 21-71 years; mean BMI 28...
September 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
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
I De Toma, L Manubens Gil, S Ossowski, M Dierssen
One of the most challenging questions in neuroscience is to dissect how learning and memory, the foundational pillars of cognition, are grounded in stable, yet plastic, gene expression states. All known epigenetic mechanisms such as DNA methylation and hydroxymethylation, histone modifications, chromatin remodelling, and noncoding RNAs regulate brain gene expression, both during neurodevelopment and in the adult brain in processes related to cognition. On the other hand, alterations in the various components of the epigenetic machinery have been linked to well-known causes of intellectual disability disorders (IDDs)...
2016: Neural Plasticity
Pedro Parra, Ramón Costa, Diego Real de Asúa, Fernando Moldenhauer, Carmen Suárez
The authors aimed to compare surrogate markers of atherosclerosis (pulse wave velocity, intima-media thickness) between adults with and without Down syndrome (DS) and to assess the impact of parathyroid hormone levels and classic cardiovascular risk factors on arterial stiffness. After comparing 51 adults with DS and 51 healthy adults (siblings of DS individuals), the authors found that adults with DS seem to have lower arterial stiffness, as a result of chronic hypotension. Subclinical atherosclerosis parameters do not correlate with traditional cardiovascular risk factors in adults with DS, thus raising the hypothesis that classic predictive models for cardiovascular disease are not valid in this population...
August 6, 2016: Journal of Clinical Hypertension
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