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DOWN DOWN's SYNDROME

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https://www.readbyqxmd.com/read/27911079/trans-acting-epigenetic-effects-of-chromosomal-aneuploidies-lessons-from-down-syndrome-and-mouse-models
#1
Catherine Do, Zhuo Xing, Y Eugene Yu, Benjamin Tycko
An important line of postgenomic research seeks to understand how genetic factors can influence epigenetic patterning. Here we review epigenetic effects of chromosomal aneuploidies, focusing on findings in Down syndrome (DS, trisomy 21). Recent work in human DS and mouse models has shown that the extra chromosome 21 acts in trans to produce epigenetic changes, including differential CpG methylation (DS-DM), in specific sets of downstream target genes, mostly on other chromosomes. Mechanistic hypotheses emerging from these data include roles of chromosome 21-linked methylation pathway genes (DNMT3L and others) and transcription factor genes (RUNX1, OLIG2, GABPA, ERG and ETS2) in shaping the patterns of DS-DM...
December 2, 2016: Epigenomics
https://www.readbyqxmd.com/read/27909135/new-radiological-parameters-for-the-assessment-of-atlantoaxial-instability-in-children-with-down-syndrome-the-normal-values-and-the-risk-of-spinal-cord-injury
#2
N Nakamura, Y Inaba, Y Aota, M Oba, J Machida, N Aida, K Kurosawa, T Saito
AIMS: To determine the normal values and usefulness of the C1/4 space available for spinal cord (SAC) ratio and C1 inclination angle, which are new radiological parameters for assessing atlantoaxial instability in children with Down syndrome. PATIENTS AND METHODS: We recruited 272 children with Down syndrome (including 14 who underwent surgical treatment), and 141 children in the control group. All were aged between two and 11 years. The C1/4 SAC ratio, C1 inclination angle, atlas-dens interval (ADI), and SAC were measured in those with Down syndrome, and the C1/4 SAC ratio and C1 inclination angle were measured in the control group...
December 2016: Bone & Joint Journal
https://www.readbyqxmd.com/read/27906794/health-related-quality-of-life-hr-qol-and-chronic-health-conditions-in-survivors-of-childhood-acute-myeloid-leukemia-aml-with-down-syndrome-ds-a-report-from-the-children-s-oncology-group
#3
Kris Ann P Schultz, Lu Chen, Alicia Kunin-Batson, Zhengjia Chen, William G Woods, Alan Gamis, Toana Kawashima, Kevin C Oeffinger, H Stacy Nicholson, Joseph P Neglia
Survival rates for children with Down syndrome (DS) and acute myeloid leukemia (AML) are high; however, little is known regarding the health-related quality of life (HR-QOL) of these survivors. Individuals who survived ≥5 years following diagnosis of childhood AML were invited to complete parent or patient-report surveys measuring HR-QOL and chronic health conditions. In total, 26 individuals with DS had a median age at diagnosis of 1.8 years (range, 0.77 to 10.9 y) and median age at interview of 15 years (range, 8...
November 30, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27906087/legionella-pneumonia-in-the-niagara-region-ontario-canada-a-case-series
#4
Stephanie Cargnelli, Jeff Powis, Jennifer L Y Tsang
BACKGROUND: Legionella pneumophila, a major cause of Legionnaires' disease, accounts for 2-15 % of all community-acquired pneumonia requiring hospitalization and up to 30 % of community-acquired pneumonia requiring intensive care unit admission. Early initiation of appropriate antimicrobial therapy is a crucial step in the prevention of morbidity and mortality. However, recognition of Legionnaires' disease continues to be challenging because of its nonspecific clinical features. We sought to describe hospitalized community-acquired Legionnaires' disease to increase awareness of this important and potentially lethal disease...
December 1, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27905645/-morbidity-profile-among-adolescents-with-down-syndrome
#5
Antonia Cárdenas, María A Paul, Catalina Correa, Sebastián Valderrama, Jaime Cerda, Macarena Lizama
BACKGROUND: There is a paucity of information about morbidity and mortality of adolescents with Down syndrome (DS). AIM: To describe morbidity and mortality of a cohort of Chilean adolescents with DS. MATERIAL AND METHODS: Review of electronic clinical records of 67 ambulatory patients with DS aged 10 to 20 years (37 women), seen between the years 2007 and 2014 in outpatient clinics of a University hospital. RESULTS: The mean age at the last consultation was 13 ± 3 years...
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27905298/haploinsufficiency-of-the-folliculin-gene-leads-to-impaired-functions-of-lung-fibroblasts-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#6
Yoshito Hoshika, Fumiyuki Takahashi, Shinsaku Togo, Muneaki Hashimoto, Takeshi Nara, Toshiyuki Kobayashi, Fariz Nurwidya, Hideyuki Kataoka, Masatoshi Kurihara, Etsuko Kobayashi, Hiroki Ebana, Mika Kikkawa, Katsutoshi Ando, Koichi Nishino, Okio Hino, Kazuhisa Takahashi, Kuniaki Seyama
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder caused by germline mutations in the FLCN gene, and characterized by skin fibrofolliculomas, multiple lung cysts, spontaneous pneumothorax, and renal neoplasms. Pulmonary manifestations frequently develop earlier than other organ involvements, prompting a diagnosis of BHDS However, the mechanism of lung cyst formation and pathogenesis of pneumothorax have not yet been clarified. Fibroblasts were isolated from lung tissues obtained from patients with BHDS (n = 12) and lung cancer (n = 10) as controls...
November 2016: Physiological Reports
https://www.readbyqxmd.com/read/27902785/apoptosis-related-gene-expression-profiling-in-hematopoietic-cell-fractions-of-mds-patients
#7
Saskia Mc Langemeijer, Niccolo Mariani, Ruth Knops, Christian Gilissen, Rob Woestenenk, Theo de Witte, Gerwin Huls, Bert A van der Reijden, Joop H Jansen
Although the vast majority of patients with a myelodysplastic syndrome (MDS) suffer from cytopenias, the bone marrow is usually normocellular or hypercellular. Apoptosis of hematopoietic cells in the bone marrow has been implicated in this phenomenon. However, in MDS it remains only partially elucidated which genes are involved in this process and which hematopoietic cells are mainly affected. We employed sensitive real-time PCR technology to study 93 apoptosis-related genes and gene families in sorted immature CD34+ and the differentiating erythroid (CD71+) and monomyeloid (CD13/33+) bone marrow cells...
2016: PloS One
https://www.readbyqxmd.com/read/27899370/benign-reactive-lymphoid-hyperplasia-of-the-conjunctiva-in-childhood
#8
Adel G AlAkeely, Hind M Alkatan, Adel H Alsuhaibani, Hisham AlKhalidi, Leen Abu Safieh, Sarah E Coupland, Deepak P Edward
BACKGROUND/AIM: Our aim is to the report the clinical and histopathological features of benign reactive lymphoid hyperplasia (BRLH) of the conjunctiva in children and the outcomes of treatment. METHODS: A retrospective chart review was performed for children aged 0-18 years, diagnosed with conjunctival BRLH from January 2000 to December 2013 at two large ophthalmology hospitals in the Middle East. Data were collected on patient demographics, features of the lesions, the site of the lesion, location, adnexal involvement, lymph nodes involvement, local spread, histopathology and molecular genetic studies of the cases (if available), outcomes of treatment and recurrence...
November 29, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27899146/impact-of-visceral-fat-on-gene-expression-profile-in-peripheral-blood-cells-in-obese-japanese-subjects
#9
Yoshinari Obata, Norikazu Maeda, Yuya Yamada, Koji Yamamoto, Seiji Nakamura, Masaya Yamaoka, Yoshimitsu Tanaka, Shigeki Masuda, Hirofumi Nagao, Shiro Fukuda, Yuya Fujishima, Shunbun Kita, Hitoshi Nishizawa, Tohru Funahashi, Ken-Ichi Matsubara, Yuji Matsuzawa, Iichiro Shimomura
BACKGROUND: Visceral fat plays a central role in the development of metabolic syndrome and atherosclerotic cardiovascular diseases. The association of visceral fat accumulation with cardio-metabolic diseases has been reported, but the impact of visceral fat on the gene expression profile in peripheral blood cells remains to be determined. The aim of this study was to determine the effects of visceral fat area (VFA) and subcutaneous fat area (SFA) on the gene expression profile in peripheral blood cells of obese subjects...
November 29, 2016: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/27896273/relationships-between-muscle-architecture-of-rectus-femoris-and-functional-parameters-of-knee-motion-in-adults-with-down-syndrome
#10
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/27896158/congenital-duodenal-obstruction-in-neonates-over-13-years-experience-from-a-single-centre
#11
Parveen Kumar, Chiranjiv Kumar, Prince Raj Pandey, Yogesh Kumar Sarin
AIM: To study the prevalence of associated anomalies with neonatal duodenal obstruction and factors impacting short-term survival. MATERIAL AND METHODS: Records of 31 neonates with neonatal duodenal obstruction could be retrieved and analyzed for a 13.5-year-period (October 2003-May 2016). M:F ratio was 1.58:1. The mean birth weight was 2.15 kg; 12 patients were preterm. Etiologies included duodenal atresia (n=23), duodenal web (n=8) and malrotation of gut (n= 6)...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27895587/vitamin-d-signaling-through-induction-of-paneth-cell-defensins-maintains-gut-microbiota-and-improves-metabolic-disorders-and-hepatic-steatosis-in-animal-models
#12
Danmei Su, Yuanyang Nie, Airu Zhu, Zishuo Chen, Pengfei Wu, Li Zhang, Mei Luo, Qun Sun, Linbi Cai, Yuchen Lai, Zhixiong Xiao, Zhongping Duan, Sujun Zheng, Guihui Wu, Richard Hu, Hidekazu Tsukamoto, Aurelia Lugea, Zhenqui Liu, Stephen J Pandol, Yuan-Ping Han
Metabolic syndrome (MetS), characterized as obesity, insulin resistance, and non-alcoholic fatty liver diseases (NAFLD), is associated with vitamin D insufficiency/deficiency in epidemiological studies, while the underlying mechanism is poorly addressed. On the other hand, disorder of gut microbiota, namely dysbiosis, is known to cause MetS and NAFLD. It is also known that systemic inflammation blocks insulin signaling pathways, leading to insulin resistance and glucose intolerance, which are the driving force for hepatic steatosis...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27894834/a-podoscopic-and-descriptive-study-of-foot-deformities-in-patients-with-down-syndrome
#13
E Mansour, J J Yaacoub, Z Bakouny, A Assi, I Ghanem
INTRODUCTION: Subjects with Down syndrome (DS) are known to be affected by various foot deformities. Despite the fact that some of these deformities have been reported in the literature, a more comprehensive description would be of benefit. The aim of this study is to investigate the prevalence of known foot deformities in patients with DS and of other previously non-described foot anomalies in this population. HYPOTHESIS: Subjects with DS have an increased prevalence of foot deformities compared to control subjects...
November 25, 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/27894382/-study-of-tumor-necrosis-factor-%C3%AE-induced-protein-8-like-2-expression-in-peripheral-blood-mononuclear-cells-of-patients-with-acute-respiratory-distress-syndrome-correlate-with-disease-severity
#14
He Huang, Cong Feng, Zhaotao Tian, Yongming Yao, Tanshi Li
OBJECTIVE: To demonstrate the effect of tumor necrosis factor-α induced protein 8 like-2 (TIPE2) expression in patients with acute respiratory distress syndrome (ARDS) and its mechanism. METHODS: A prospective observation was conducted. Thirty-nine patients with ARDS admitted to department of emergency of PLA General Hospital from July 2013 to July 2015 were enrolled, and 35 healthy persons served as control group. The acute physiology and chronic health evaluation II (APACHE II) score within 24 hours after admission, blood gas analysis, procalcitonin (PCT), and C-reactive protein (CRP) were recorded...
June 2016: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/27893452/confounding-of-the-association-between-radiation-exposure-from-ct-scans-and-risk-of-leukemia-and-brain-tumors-by-cancer-susceptibility-syndromes
#15
Johanna M Meulepas, Cécile M Ronckers, Johannes Merks, Michel E Weijerman, Jay H Lubin, Michael Hauptmann
Recent studies linking radiation exposure from pediatric computed tomography (CT) to increased risks of leukemia and brain tumors lacked data to control for cancer susceptibility syndromes (CSS). These syndromes might be confounders because they are associated with an increased cancer risk and may increase the likelihood of pediatric CT scans. We identify CSS predisposing to leukemia and brain tumors through a systematic literature search and summarize prevalence and risk. Since empirical evidence is lacking in published literature on patterns of CT use for most types of CSS, we estimate confounding bias of relative risks (RR) for categories of radiation exposure based on expert opinion about patterns of CT scans among CSS patients...
November 28, 2016: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/27893086/the-composition-of-early-vocabulary-in-spanish-children-with-down-syndrome-and-their-peers-with-typical-development
#16
Elena Checa, Miguel Galeote, Pilar Soto
Purpose: There are very few studies, and at present none in Spanish, on vocabulary composition in children with Down syndrome (DS). Nor has the topic been widely assessed in Spanish-speaking children with typical development (TD). This study analyzed the composition of early vocabularies in a large sample of Spanish-speaking children with DS and compared it with that of children with TD. Method: We studied 108 children with DS and 108 children with TD with mental ages between 8 and 29 months, matched for size of productive vocabulary and gender...
November 1, 2016: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/27892952/dynamic-prognostic-value-of-the-revised-international-prognostic-scoring-system-following-pretransplant-hypomethylating-treatment-in-myelodysplastic-syndrome
#17
S-A Yahng, Y-W Jeon, J-H Yoon, S-H Shin, S-E Lee, Y-S Choi, D-Y Kim, J-H Lee, B-S Cho, K-S Eom, S Lee, C-K Min, H-J Kim, J-W Lee, K-H Lee, W-S Min, J-H Lee, Y-J Kim
This study aimed to analyze the use of the revised International Prognostic Scoring System (IPSS-R) assessed after hypomethylating treatment (HMT) for patients with myelodysplastic syndrome (MDS) undergoing an allogeneic stem cell transplantation (SCT). Among 115 patients who received pre-SCT HMT, comparison analysis of the prognostic values between the IPSS-R at the time of HMT (IPSS-R@HMT) and at the time of SCT after HMT (IPSS-R@SCT) showed a significantly higher predictive power for overall survival (OS) of the latter...
November 28, 2016: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/27891498/the-participation-patterns-of-youth-with-down-syndrome
#18
Megan MacDonald, Jennifer Leichtman, Phil Esposito, Nicole Cook, Dale Allen Ulrich
PURPOSE: The purpose of this paper was to investigate the participation patterns of children with Down syndrome (DS) using the construct of participation as defined by the International Classification of Functioning Disability and Health (ICF). METHODS: Sixty-two children with DS were recruited between the ages of 9 and 17 years. All participants were given an interview-administered version of the Children's Assessment of Participation and Enjoyment (CAPE) to measure participation (1)...
2016: Frontiers in Public Health
https://www.readbyqxmd.com/read/27891427/anaesthetic-management-of-a-case-of-down-s-syndrome-with-achalasia-cardia
#19
Neeta Santha, Madhusudan Upadya, Sravanthi Vishwanatham
Achalasia cardia is a disorder of the gastrointestinal tract characterized by dilatation of the oesophagus and collection of food and fluids in the oesophagus leading to massive regurgitation and aspiration of gastric contents. Down's syndrome has multisystem effects which can also present as difficult airway. Here, we present a case of a 14-year-old girl, a case of Down's syndrome with Achalasia cardia and mitral valve prolapse posted for Heller's cardiomyotomy. Anaesthetic concerns were difficult airway due to Downs's syndrome, massive aspiration risks of Achalasia cardia and haemodynamic instability due to mitral regurgitation...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27891365/visual-function-and-ocular-status-in-children-with-disabilities-in-special-schools-of-northern-india
#20
Gurvinder Kaur, Satish Thomas, Mahesh Jindal, S M Bhatti
INTRODUCTION: Children with disabilities (other than visual impairment) are at a higher risk of visual impairment as compared to normal population. Majority of the ocular disorders, like refractive errors and strabismus, are easily treatable. As these children depend on their visual inputs for social and academic activities, an early detection and prompt treatment of even a minor visual problem is of utmost importance for them. AIM: To assess the visual function and ocular status of children with disabilities other than visual impairment and to identify the preventable and treatable causes of visual impairment...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
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