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https://www.readbyqxmd.com/read/27922891/coexistence-of-adult-onset-eruptive-syringoma-and-bilateral-renal-cell-carcinoma-a-case-report
#1
Pinar Incel Uysal, Basak Yalcin, Esra Ozhamam, Onder Bozdogan
Eruptive syringoma is an unusual variant of syringoma, which usually presents before or during puberty. It typically occurs in large numbers as multiple yellow-brown-colored papules, which may show spontaneous regression. Because some authors have proposed that it could present as a reactive process of eccrine ducts to an inflammatory reaction caused by an unknown trigger, the exact pathomechanism is still unclear. There are also reports in the literature on the association of eruptive syringoma in Down syndrome, diabetes, milium, sarcoidosis, and psychiatric disorders...
December 2, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27914526/jiawei-erzhiwan-improves-menopausal-metabolic-syndrome-by-enhancing-insulin-secretion-in-pancreatic-%C3%AE-cells
#2
Xiao-Meng Wan, Mu Zhang, Pei Zhang, Zhi-Shen Xie, Feng-Guo Xu, Ping Zhou, Shi-Ping Ma, Xiao-Jun Xu
Menopausal metabolic syndrome (MMS) is a series of syndrome caused by ovarian function decline and hormone insufficiency, and is a high risk factor for cardiovascular diseases (CVD) and type II diabetes mellitus (T2DM). Erzhiwan (EZW), composed of Herba Ecliptae and Fructus Ligustri Lucidi, is a traditional Chinese herbal formula that has been used to treat menopausal syndrome for many years. We added Herba Epimedii, Radix Rehmanniae, and Fructus Corni into EZW, to prepare a new formula, termed Jiawei Erzhiwan (JE)...
November 2016: Chinese Journal of Natural Medicines
https://www.readbyqxmd.com/read/27896273/relationships-between-muscle-architecture-of-rectus-femoris-and-functional-parameters-of-knee-motion-in-adults-with-down-syndrome
#3
Maria Stella Valle, Antonino Casabona, Marco Micale, Matteo Cioni
This study was designed to measure in vivo muscle architecture of the rectus femoris in adults with Down syndrome, testing possible relationships with functional parameters of the knee motion. Ten adults with Down syndrome and ten typically developed participated in the study. Pennation angle and thickness of the rectus femoris and subcutaneous layer of the thigh were measured via ultrasound imaging. Knee kinematics and electromyographic activity of the rectus femoris were recorded during free leg dropping...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27890709/role-of-major-and-brain-specific-sgce-isoforms-in-the-pathogenesis-of-myoclonus-dystonia-syndrome
#4
Jianfeng Xiao, Satya R Vemula, Yi Xue, Mohammad M Khan, Francesca A Carlisle, Adrian J Waite, Derek J Blake, Ioannis Dragatsis, Yu Zhao, Mark S LeDoux
Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A "major" ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a "brain-specific" protein, that includes sequence derived from alternative exon 11b (CCDS47642.1, NM_001099400.1), are reportedly localized in post- and pre-synaptic membrane fractions, respectively. Moreover, deficiency of the "brain-specific" isoform and other isoforms derived from exon 11b may be central to the pathogenesis of DYT11...
November 24, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27862519/accuracy-of-the-prediction-equation-for-the-determination-of-maximum-heart-rate-in-adults-with-down-syndrome
#5
Pieter-Henk Boer
BACKGROUND: The purpose of the study was to determine if the regression formula developed for the prediction of maximum heart rate (HR) is valid for adults with Down syndrome (DS). METHODS: Thirty-six adults with DS (31.7 ± 6.8 years; 20 men, 16 women) completed a maximal aerobic test. Maximum HR and VO2 peak were measured directly on a motorised treadmill with a metabolic analyser. Predicted HR was estimated with the regression equation developed for individuals with DS (Fernhall et al...
November 14, 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27858714/feasibility-of-lumbar-puncture-in-the-study-of-cerebrospinal-fluid-biomarkers-for-alzheimer-s-disease-in-subjects-with-down-syndrome
#6
María Carmona-Iragui, Telma Santos, Sebastián Videla, Susana Fernández, Bessy Benejam, Laura Videla, Daniel Alcolea, Kaj Blennow, Rafael Blesa, Alberto Lleó, Juan Fortea
BACKGROUND: Alzheimer's disease (AD) is the main medical problem in older adults with Down syndrome (DS). Studies of cerebrospinal fluid (CSF) AD biomarkers are limited and the feasibility of lumbar puncture (LP) is controversial in this population. OBJECTIVE: To analyze the frequency of complications after a LP in DS. METHODS: We collected data from 80 adults with DS that underwent a LP within the Down Alzheimer Barcelona Neuroimaging Initiative...
November 14, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27851899/cognitive-ability-in-down-syndrome-and-its-relationship-to-urinary-neopterin-a-marker-of-activated-cellular-immunity
#7
Panagiotis Zis, André Strydom, David Buckley, Daniel Adekitan, Patrick C McHugh
BACKGROUND: Neopterin is an unconjugated pteridine that is secreted in large quantities by activated macrophages and can be used as a clinical marker of activated cellular immunity and oxidative stress. We aimed to investigate whether urinary neopterin levels are associated with cognitive function in people with Down syndrome (DS). METHODS: Out of 32 adults with DS who originally participated in a longitudinal study, 25 were followed up at 4 years. Informants rated their adaptive behavior (ABAS) and the adults with DS attempted assessments of language skills and memory at both baseline and follow-up time points (Modified Memory Object Task, MOMT), and receptive vocabulary (British Picture Vocabulary Scale, BPVS)...
January 1, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27844057/combined-treatment-with-environmental-enrichment-and-epigallocatechin-3-gallate-ameliorates-learning-deficits-and-hippocampal-alterations-in-a-mouse-model-of-down-syndrome
#8
Silvina Catuara-Solarz, Jose Espinosa-Carrasco, Ionas Erb, Klaus Langohr, Juan Ramon Gonzalez, Cedric Notredame, Mara Dierssen
Intellectual disability in Down syndrome (DS) is accompanied by altered neuro-architecture, deficient synaptic plasticity, and excitation-inhibition imbalance in critical brain regions for learning and memory. Recently, we have demonstrated beneficial effects of a combined treatment with green tea extract containing (-)-epigallocatechin-3-gallate (EGCG) and cognitive stimulation in young adult DS individuals. Although we could reproduce the cognitive-enhancing effects in mouse models, the underlying mechanisms of these beneficial effects are unknown...
September 2016: ENeuro
https://www.readbyqxmd.com/read/27833600/mucosal-prevalence-and-interactions-with-the-epithelium-indicate-commensalism-of-sutterella-spp
#9
Kaisa Hiippala, Veera Kainulainen, Marko Kalliomäki, Perttu Arkkila, Reetta Satokari
Sutterella species have been frequently associated with human diseases, such as autism, Down syndrome, and inflammatory bowel disease (IBD), but the impact of these bacteria on health still remains unclear. Especially the interactions of Sutterella spp. with the host are largely unknown, despite of the species being highly prevalent. In this study, we addressed the interaction of three known species of Sutterella with the intestinal epithelium and examined their adhesion properties, the effect on intestinal barrier function and the pro-inflammatory capacity in vitro...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27823134/best-practice-in-caring-for-adults-with-dementia-and-learning-disabilities
#10
André Strydom, Tamara Al-Janabi, Marie Houston, James Ridley
People with learning disabilities, particularly Down's syndrome, are at increased risk of dementia. At present, services and care tailored to people with both dementia and a learning disability are unsatisfactory. This article reviews the literature specific to dementia in people with learning disabilities, including: comprehensive screening, diagnosis, management, environmental considerations, end of life care and training issues for nursing staff. Recommendations for best practice and service improvement are made to improve the quality of life for individuals with dementia and learning disabilities, pre and post-diagnosis...
October 5, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27799900/vntr-dat1-and-comtval158met-genotypes-modulate-mental-flexibility-and-adaptive-behavior-skills-in-down-syndrome
#11
Laura Del Hoyo, Laura Xicota, Klaus Langohr, Gonzalo Sánchez-Benavides, Susana de Sola, Aida Cuenca-Royo, Joan Rodriguez, Jose Rodríguez-Morató, Magí Farré, Mara Dierssen, Rafael de la Torre
Down syndrome (DS) is an aneuploidy syndrome that is caused by trisomy for human chromosome 21 resulting in a characteristic cognitive and behavioral phenotype, which includes executive functioning and adaptive behavior difficulties possibly due to prefrontal cortex (PFC) deficits. DS also present a high risk for early onset of Alzheimer Disease-like dementia. The dopamine (DA) system plays a neuromodulatory role in the activity of the PFC. Several studies have implicated trait differences in DA signaling on executive functioning based on genetic polymorphisms in the genes encoding for the catechol-O-methyltransferase (COMTVal158Met) and the dopamine transporter (VNTR-DAT1)...
2016: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/27792403/descriptive-analysis-and-comparison-of-strategic-incremental-rehearsal-to-business-as-usual-sight-word-instruction-for-an-adult-nonreader-with-intellectual-disability
#12
David M Richman, Laura Grubb, Samuel Thompson
OBJECTIVE: Strategic Incremental Rehearsal (SIR) is an effective method for teaching sight-word acquisition, but has neither been evaluated for use in adults with an intellectual disability, nor directly compared to the ongoing instruction in the natural environment. METHODS: Experimental analysis of sight word acquisition via an alternating treatment design was conducted with a 23-year-old woman with Down syndrome. SIR was compared to the current reading instruction (CRI) in a classroom for young adults with intellectual disabilities...
October 28, 2016: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/27785947/increased-non-protein-bound-iron-in-down-syndrome-contribution-to-lipid-peroxidation-and-cognitive-decline
#13
Caterina Manna, Arbace Officioso, Francesca Trojsi, Gioacchino Tedeschi, Silvia Leoncini, Cinzia Signorini, Lucia Ciccoli, Claudio De Felice
Down syndrome (DS, trisomy 21) is the leading cause of chromosomal-related intellectual disability. At an early age, adults with DS develop with the neuropathological hallmarks of Alzheimer's disease, associated with a chronic oxidative stress. To investigate if non-protein bound iron (NPBI) can contribute to building up a pro-oxidative microenvironment, we evaluated NPBI in both plasma and erythrocytes from DS and age-matched controls, together with in vivo markers of lipid peroxidation (F2-isoprostanes, F2-dihomo-isoprostanes, F4-neuroprostanes) and in vitro reactive oxygen species (ROS) formation in erythrocytes...
November 23, 2016: Free Radical Research
https://www.readbyqxmd.com/read/27782939/strangulation-by-feeding-tube-in-a-23-month-old-with-down-syndrome-case-report-and-review-of-literature
#14
Paige C Woodham, James W Fulcher, Michael E Ward
Ligature strangulation, although typically homicidal in nature, has been reported as accidental in both the pediatric and adult populations. The unique mode of accidental strangulation with a gastric feeding tube in a 23-month-old with Down syndrome is currently unreported in the literature and has prompted us to report this case and look into safety modifications that can be made to these common medical devices. Given the number of children with gastric feeding tubes and concern over this exact scenario brought up by parents, it is unusual that a similar case has not been reported...
December 2016: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/27748021/characteristics-of-the-phenotypic-abnormalities-of-bone-marrow-cells-in-childhood-myelodysplastic-syndromes-and-juvenile-myelomonocytic-leukemia
#15
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
https://www.readbyqxmd.com/read/27722998/craniofacial-features-as-assessed-by-lateral-cephalometric-measurements-in-children-with-down-syndrome
#16
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
https://www.readbyqxmd.com/read/27707422/current-demand-of-paediatric-otolaryngology-input-for-children-with-down-s-syndrome-in-a-tertiary-referral-centre
#17
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
https://www.readbyqxmd.com/read/27704678/the-accuracy-of-anthropometric-equations-to-assess-body-fat-in-adults-with-down-syndrome
#18
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
https://www.readbyqxmd.com/read/27701769/incontinence-in-persons-with-down-syndrome
#19
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
https://www.readbyqxmd.com/read/27695176/partial-annular-pancreas
#20
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
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