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DOWN DOWN's SYNDROME

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https://www.readbyqxmd.com/read/29456755/preliminary-results-of-an-anteverting-triple-periacetabular-osteotomy-for-the-treatment-of-hip-instability-in-down-syndrome
#1
D A Maranho, Y-J Kim, K A Williams, E N Novais
Purpose: To investigate the outcomes of an anteverting triple periacetabular osteotomy for the treatment of hip instability in skeletally immature patients with Down syndrome. Methods: We evaluated 16 patients (21 hips) with Down syndrome and hip instability who underwent an anteverting triple periacetabular osteotomy between 2007 and 2016. There were nine females and seven males with an average age of 7.4 years SD 2.0. We assessed the level of hip pain, gait ability and clinical stability at a minimum of one year after surgery...
February 1, 2018: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/29456678/association-between-dscr4-gene-methylation-in-plasma-in-early-pregnancy-and-down-s-syndrome
#2
Lingyu Hu, Changju Zhou
Down's syndrome (DS), a chromosomal abnormal genetic disease caused by a local or total copy of chromosome 21, leads to patients suffering from delayed body growth, special facies, mild to moderate mental retardation and other symptoms, seriously affecting the life of patients. The aim of the present study was to examine the association between Down's syndrome critical region 4 ( DSCR4 ) gene methylation in plasma in high-risk pregnant women with DS in early pregnancy (hereinafter referred to as pregnant women in early pregnancy) and DS, in order to screen new epigenetic markers for the clinical diagnosis of DS...
March 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29454635/sleep-behavior-and-eeg-oscillations-in-aged-dp-16-1yey-mice-a-down-syndrome-model
#3
J Levenga, D J Peterson, P Cain, C A Hoeffer
Down syndrome (DS) results from the triplication of genes located on human chromosome 21 (Hsa21). Though many cognitive and behavioral impairments are associated with DS, sleep disturbances remain poorly understood despite being a reported phenotype in approximately 60% of individuals diagnosed with DS. In this study, sleep and electroencephalography (EEG) oscillations were recorded from aged (12-14 mos.) Dp(16)1Yey/+ mice (Dp16), a mouse model of DS. We observed disrupted sleep demonstrated by increased activity during the dark phase and increased time awake at the expense of NREM sleep compared to wild-type mice...
February 15, 2018: Neuroscience
https://www.readbyqxmd.com/read/29453975/mir144-3p-inhibits-pmvecs-excessive-proliferation-in-angiogenesis-of-hepatopulmonary-syndrome-via-tie2
#4
Congwen Yang, Keyi Lv, Bin Chen, Yong Yang, Xiangfa Ai, Hongfu Yu, Yihui Yang, Bin Yi, Kaizhi Lu
BACKGROUND/AIM: Increasing evidence show microRNAs (miRNAs) are associated with hepatopulmonary syndrome (HPS). The aim of this study was to investigate the role of miR-144 in the angiogenesis of HPS, as well as to identify its underlying mechanism. METHODS: The expression levels of miR-144-3p were assessed in pulmonary micro-vascular endothelial cells (PMVECs), as well as in lung tissues from rats with HPS. We predicted the potential target of miR-144-3p. Tyrosine kinase 2(Tie2) was identified as a target gene of miR144-3p, which has an essential role in the angiogenesis of lung vessel...
February 14, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29449634/self-perceptions-from-people-with-down-syndrome-in-japan
#5
Mio Wakai, Rina Takahashi, Satomi Higashigawa, Masami Ikeda, Junko Yotsumoto, Hironao Numabe
Self-perception of people with Down Syndrome (DS) was originally studied in the United States in 2011; this study indicated that 99% of people with DS are happy with their lives. In this study, we investigated self-perceptions of people with DS in Japan and compared the results to the previous study made in the United States. The participants (n = 300) were 12 years old or older and members of Japan Down Syndrome Society (JDS). The questionnaire was collected between 30 October 2015 and 26 November 2015. Of 96(32%) responses, 76 (97%) agreed they are happy with their lives...
February 15, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29449373/tyrosine-hydroxylase-down-regulation-after-loss-of-abelson-helper-integration-site-1-ahi1-promotes-depression-via-the-circadian-clock-pathway-in-mice
#6
Dongkai Guo, Shun Zhang, Hongyang Sun, Xingyun Xu, Zongbing Hao, Chenchen Mu, Xingshun Xu, Guanghui Wang, Haigang Ren
Abelson helper integration site 1 (AHI1) is associated with several neuropsychiatric and brain developmental disorders such as schizophrenia, depression, autism, and Joubert syndrome. Ahi1 deficiency in mice leads to behaviors typical of depression. However, the mechanisms by which AHI1 regulates behavior remain to be elucidated. Here, we found that down-regulation of expression of the rate-limiting enzyme in dopamine biosynthesis, tyrosine hydroxylase (TH), in the midbrains of Ahi1 -knockout (KO) mice is responsible for Ahi1 -deficiency-mediated depressive symptoms...
February 15, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29449075/cardiac-transplantation-in-children-with-down-syndrome-turner-syndrome-and-other-chromosomal-anomalies-a-multi-institutional-outcomes-analysis
#7
Christopher R Broda, Antonio G Cabrera, Joseph W Rossano, John L Jefferies, Jeffrey A Towbin, Clifford Chin, Pirouz Shamszad
BACKGROUND: The purpose of this study was to describe the prevalence, characteristics, and outcomes in pediatric patients with chromosomal anomalies (CA) undergoing orthotopic heart transplantation (OHT). METHODS: A query of the database of the Pediatric Health Information System, a large administrative and billing database of 43 tertiary children's hospitals, was performed for the Years 2004 to 2016. Pediatric patients who received OHT were analyzed based on presence and type of CA...
January 31, 2018: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/29449054/second-generation-antipsychotic-induced-mitochondrial-alterations-implications-for-increased-risk-of-metabolic-syndrome-in-patients-with-schizophrenia
#8
Giselli Scaini, João Quevedo, Dawn Velligan, David L Roberts, Henriette Raventos, Consuelo Walss-Bass
Metabolic syndrome (MetS) is seen more frequently in persons with schizophrenia than in the general population, and these metabolic abnormalities are further aggravated by second generation antipsychotic (SGA) drugs. Although the underlying mechanisms responsible for the increased prevalence of MetS among patients under SGA treatment are not well understood, alterations in mitochondria function have been implicated. We performed a comprehensive evaluation of the role of mitochondrial dysfunction in the pathophysiology of drug-induced MetS in schizophrenia...
February 12, 2018: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29448950/identification-and-characterization-of-microrna-in-the-lung-tissue-of-pigs-with-different-susceptibilities-to-pcv2-infection
#9
Ping Zhang, Liyuan Wang, Yanping Li, Ping Jiang, Yanchao Wang, Pengfei Wang, Li Kang, Yuding Wang, Yi Sun, Yunliang Jiang
Porcine circovirus type 2 (PCV2) is the primary cause of post-weaning multisystemic wasting syndrome (PMWS) and other PCV-associated diseases. According to our previous RNA-sequencing analysis, the differences in the susceptibility to PCV2 infection depended on the genetic differences between the Laiwu (LW) and Yorkshire × Landrace crossbred (YL) pigs, but the cellular microRNA (miRNA) that are differentially expressed between the LW and YL pigs before and after PCV2 infection remain to be determined. In this study, high-throughput sequencing was performed to determine the abundance and differential expression of miRNA in lung tissues from PCV2-infected and PCV2-uninfected LW and YL pigs...
February 15, 2018: Veterinary Research
https://www.readbyqxmd.com/read/29447898/challenges-and-outcomes-of-cholesteatoma-management-in-children-with-down-syndrome
#10
Saied Ghadersohi, Bharat Bhushan, Kathleen R Billings
INTRODUCTION: The high incidence of chronic otitis media with effusion and Eustachian tube dysfunction in children with Down syndrome (DS) may predispose them to cholesteatoma formation. Establishing the diagnosis, choosing the appropriate operative intervention, and post-operative care can be challenging. OBJECTIVE: To describe management strategies for cholesteatoma diagnosis, surgical treatment, and post-operative management in children with Down syndrome. METHODS: Retrospective case series of 14 patients (17 total ears) with Down syndrome diagnosed with cholesteatoma over a 9-year period...
March 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447831/rhabdomyolysis-after-prolonged-surgery-report-of-2-cases-and-review-of-literature
#11
Rebecca Grammer, Jingping Wang, Edward Lahey
Rhabdomyolysis is a condition in which damaged muscle tissue breaks down and intracellular contents, including myoglobin, are released into the circulation. This produces a nonspecific clinical syndrome including electrolyte disturbances, hypovolemia, metabolic acidosis, coagulopathies, and risk of acute kidney injury. Rhabdomyolysis has been reported as a complication of prolonged surgical procedures but has rarely been reported in the oral and maxillofacial surgery literature. Early diagnosis and treatment of rhabdomyolysis are important to avoid long-term complications such as renal failure...
February 2, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29447819/lingual-tonsillectomy-in-children-with-down-syndrome-is-it-safe
#12
Jonathan R Skirko, Emily L Jensen, Norman R Friedman
OBJECTIVE: Evaluate peri-operative course and morbidity in children with Down syndrome (DS) who underwent a lingual tonsillectomy (LT) for residual obstructive sleep apnea (rOSA). METHODS: Retrospective case series for children with DS who underwent LT for rOSA from April 2011 to July 2016. Our primary outcomes were length of stay, readmission and complications. Surgical effectiveness was evaluated by change in the obstructive apnea-hypopnea-index(OAHI) and oxygen saturation nadir...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447662/cell-free-dna-for-the-detection-of-fetal-aneuploidy
#13
REVIEW
Tamar Goldwaser, Susan Klugman
Screening for fetal aneuploidy via cell-free DNA was described more than two decades ago and has been used clinically by obstetric providers in the United States for more than 5 years. Cell-free DNA affords excellent detection of fetal Down syndrome and other common aneuploidies and thus is sought by patients and providers. However, owing to the source of the DNA and the nature of the screening test, scenarios may arise that require expert counseling about complex issues regarding fetal and maternal health, test interpretation, and management...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29447380/sirtuins-in-gamete-biology-and-reproductive-physiology-emerging-roles-and-therapeutic-potential-in-female-and-male-infertility
#14
Carla Tatone, Giovanna Di Emidio, Arcangelo Barbonetti, Gaspare Carta, Alberto M Luciano, Stefano Falone, Fernanda Amicarelli
BACKGROUND: Sirtuins (SIRT1-7) are a family of NAD+-dependent deacetylases that catalyze post-translational modifications of proteins. Together, they respond to metabolic challenges, inflammatory signals or hypoxic/oxidative stress, and are associated with aging and longevity. The role of Sirtuins in the regulation of fertility emerged in 2003 when a defective reproductive phenotype was observed in SIRT1-null mice. Although studies on Sirtuins in reproductive biology have been increasing in the last years, a recent comprehensive update on this issue is still lacking...
February 13, 2018: Human Reproduction Update
https://www.readbyqxmd.com/read/29446241/is-it-time-to-move-towards-non-invasive-prenatal-screening-for-down-syndrome-and-screening-for-pre-eclampsia
#15
EDITORIAL
Rui Wang, Patrick Chien, Tak Yeung Leung
No abstract text is available yet for this article.
March 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29445442/cerebral-angiography-in-moyamoya-syndrome-secondary-to-vasculopathy-in-down-syndrome
#16
Mohamed Shehabeldin, Doungporn Ruthirago, Yazan J Alderazi
No abstract text is available yet for this article.
December 2017: Journal of Vascular and Interventional Neurology
https://www.readbyqxmd.com/read/29445163/plasma-and-urinary-metabolomic-profiles-of-down-syndrome-correlate-with-alteration-of-mitochondrial-metabolism
#17
Maria Caracausi, Veronica Ghini, Chiara Locatelli, Martina Mericio, Allison Piovesan, Francesca Antonaros, Maria Chiara Pelleri, Lorenza Vitale, Rosa Anna Vacca, Federica Bedetti, Maria Chiara Mimmi, Claudio Luchinat, Paola Turano, Pierluigi Strippoli, Guido Cocchi
Down syndrome (DS) is caused by the presence of a supernumerary copy of the human chromosome 21 (Hsa21) and is the most frequent genetic cause of intellectual disability (ID). Key traits of DS are the distinctive facies and cognitive impairment. We conducted for the first time an analysis of the Nuclear Magnetic Resonance (NMR)-detectable part of the metabolome in plasma and urine samples, studying 67 subjects with DS and 29 normal subjects as controls selected among DS siblings. Multivariate analysis of the NMR metabolomic profiles showed a clear discrimination (up to of 80% accuracy) between the DS and the control groups...
February 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29444962/multiple-anomalies-in-the-origin-and-course-of-vertebral-arteries-and-aberrant-right-subclavian-artery-in-a-child-with-moyamoya-syndrome
#18
Pınar Beyaz, Nadia Khan, Gerasimos Baltsavias
Here we report, for the first time, a combination of five-vessel aortic arch, anomalous origin of the right vertebral artery (VA) from the common carotid artery (CCA), an aberrant right subclavian artery (SCA), and bilateral symmetrical segmental agenesis of VAs.In this case report, we present a patient with moyamoya syndrome (MMS) and Down syndrome (DS) who has bilateral symmetrical segmental agenesis of VAs, left VA originating from aortic arch and anomalous origin of right VA arising from CCA in combination with an aberrant right SCA...
February 14, 2018: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/29444177/kidney-differentiated-cells-derived-from-lowe-syndrome-patient-s-ipscs-show-ciliogenesis-defects-and-six2-retention-at-the-golgi-complex
#19
Wen-Chieh Hsieh, Swetha Ramadesikan, Donna Fekete, Ruben Claudio Aguilar
Lowe syndrome is an X-linked condition characterized by congenital cataracts, neurological abnormalities and kidney malfunction. This lethal disease is caused by mutations in the OCRL1 gene, which encodes for the phosphatidylinositol 5-phosphatase Ocrl1. While in the past decade we witnessed substantial progress in the identification and characterization of LS patient cellular phenotypes, many of these studies have been performed in knocked-down cell lines or patient's cells from accessible cell types such as skin fibroblasts, and not from the organs affected...
2018: PloS One
https://www.readbyqxmd.com/read/29443380/quality-of-life-in-down-syndrome-a-matter-of-perspective
#20
Richard Newton
No abstract text is available yet for this article.
February 14, 2018: Developmental Medicine and Child Neurology
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