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Down Syndrom

Bonhan Koo, Ki Ho Hong, Choong Eun Jin, Ji Yeun Kim, Sung-Han Kim, Yong Shin
Rapid identification of emerging infectious pathogens is crucial for preventing public health threats. Various pathogen detection techniques have been introduced; however, most techniques are time-consuming and lack multiple-target detection specificity. Although multiple-target detection techniques can distinguish emerging infectious pathogens from related pathogens, direct amplification methods have not been widely examined. Here, we present a novel arch-shaped multiple-target sensor capable of rapid pathogen identification using direct amplification in clinical samples...
August 8, 2018: Biosensors & Bioelectronics
Juan Song, Hongxia Zhang, Yanni Sun, Ruimin Guo, Dongxiang Zhong, Runxi Xu, Meng Song
Omentin-1, a novel identified adipokine, always significantly decreases in patients with metabolic syndrome. However, the functional roles of omentin-1 in diabetic nephropathy (DN) remains largely unknown. In the present study, we found that omentin-1 treatment could improve renal function of type 2 diabetic db/db mice. ELISA assay and immunohistochemistry staining showed that omentin-1 reduced the productions of proinflammatory cytokines (IFN-γ, TNF-α, MCP-1 and IL-8), and improved oxidative stress level (CAT, MDA and SOD) in the kidney tissue, indicating omentin-1 could relieved the inflammatory response and suppressed oxidative stress...
August 10, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Chung Eun Lee, Meghan M Burke, Catherine K Arnold, Aleksa Owen
BACKGROUND: Parents often face many barriers when taking care of their offspring with disabilities. In childhood, support needs vary with families of children with Down syndrome often reporting less caregiving challenges. However, it is unclear whether support needs vary in adulthood. This study compared parents of adults with Down syndrome (DS), autism spectrum disorder (ASD) and cerebral palsy (CP) regarding support needs of their offspring with intellectual and developmental disabilities (IDD) and their families...
August 12, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
Aniruddha Mukherjee, Bina K Mehta, Kalyan K Sen, Sugato Banerjee
OBJECTIVE: The objective of the study was to characterize the mechanism associated with metabolic syndrome (MetS)-associated cognitive decline and determine the effect of minocycline on the above condition in mice. MATERIALS AND METHODS: We developed a HFHC diet-induced MetS model in mice. Diagnostic characteristics of MetS including waist circumference, lipid levels, blood pressure, and fasting blood glucose were measured in these Swiss albino mice. Cognitive parameters were measured using passive avoidance and elevated plus maze test...
March 2018: Indian Journal of Pharmacology
Marisa A Bartz-Kurycki, Kathryn T Anderson, Mary T Austin, Lillian S Kao, KuoJen Tsao, Kevin P Lally, Akemi L Kawaguchi
BACKGROUND: Down syndrome (DS) is a genetic condition associated with multiple comorbidities. While physicians may perceive that DS patients have more postoperative complications, the literature remains unclear. This study compared postoperative complications for children with and without DS who underwent abdominal and thoracic procedures. METHODS: The National Surgical Quality Improvement Program Pediatric was queried for patients aged <18 years, who underwent abdominal and noncardiac thoracic operations (by Current Procedural Terminology codes) from 2012 to 2015...
October 2018: Journal of Surgical Research
Eytan Ben-Ami, Maria C Castells, Nathan T Connell, Anna E Rutherford, Katherine A Thornton
Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe, potentially life-threatening drug-induced hypersensitivity reaction, characterized by cutaneous eruptions, fever, diffuse lymphadenopathy, along with hypereosinophilia, and elevated liver function tests, which in severe cases may lead to fulminant hepatic failure and death. Although DRESS syndrome has been associated with over 50 different drugs including imatinib, it has never been reported in association with imatinib treatment in solid tumors...
August 9, 2018: Anti-cancer Drugs
Savannah Ross, Kristen Eisenman, Kelly W Maloney
Pediatric Burkitt lymphoma has historically been treated with intensive methotrexate-based chemotherapy, which improves patient survival while causing severe toxicities. Young patients typically have better outcomes with intensive therapies, while adults and immunocompromised patients have higher toxicities and worse outcomes. Newer treatment regimens, including etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin, rituximab (EPOCH-R), show promise for these patients. However, few studies exist to demonstrate efficacy and improved toxicity profile with EPOCH-R...
August 8, 2018: Journal of Pediatric Hematology/oncology
Rebeca Barros da Silva, Maria do Céu Barbieri-Figueiredo, Marcia Van Riper
Children with Down syndrome are less likely to be breastfed than typically developing children, and breastfeeding has a lower duration compared to recommendations of the World Health Organization. The aim of this study was to understand the breastfeeding experiences of mothers of children with Down syndrome, including their perceptions of the breastfeeding process and their specific practices. This is a qualitative study with 10 participants, mothers of children aged between 2 months and 9 years. Snowball sampling was used for participants' selection, and semi-structured interviews conducted in participants' households...
August 10, 2018: Comprehensive Child and Adolescent Nursing
Anna Czarna, Jinhua Wang, Diana Zelencova, Yao Liu, Xianming Deng, Hwan Geun Choi, Tinghu Zhang, Wenjun Zhou, Jae Won Chang, Hanne Kildalsen, Ole-Morten Seternes, Nathanael S Gray, Richard Alan Engh, Ulli Rothweiler
DYRK1A is one of five members of the Dual-specificity tyrosine (Y) phosphorylation-Regulated Kinase (DYRK) family. The DYRK1A gene is located in the Down syndrome critical region and regulates cellular processes related to proliferation and differentiation of neuronal progenitor cells during early development. This has focused research on to its role in neuronal degenerative diseases, including Alzheimer's and Down syndrome; recent studies have also shown a possible role of DYRK1A in diabetes. Here we report a variety of scaffolds not generally known for DYRK1A inhibition, demonstrating their effects in in vitro assays and also in cell cultures...
August 10, 2018: Journal of Medicinal Chemistry
Li-Xia Pei, Wei Zhang, Ya-Fang Song, Hao Geng, Lu Chen, Xiao-Liang Wu, Jun-Ling Zhou, Jian-Hua Sun
OBJECTIVE: To observe the effect of electroacupuncture (EA) at "Tianshu" (ST 25) on visceral pain and colonic mast cell (MCs) number and tryptase and SP expression in post-infectious irritable bowel syndrome (PI-IBS) rats, so as to reveal its mechanisms underlying improvement of PI-IBS. METHODS: Forty-five female Wistar rats were randomly divided into control, model and EA groups (15 rats/ group, 3 rats/group used for H. E. staining, and 12 rats/group for immunohistochemistry)...
July 25, 2018: Zhen Ci Yan Jiu, Acupuncture Research
Ewa Parfieniuk, Paulina Samczuk, Tomasz Kowalczyk, Karolina Pietrowska, Magdalena Niemira, Magdalena Paczkowska-Abdulsalam, Slawomir Wolczynski, Adam Kretowski, Michal Ciborowski, Monika Zbucka-Kretowska
OBJECTIVE: The objective of the study was to perform maternal plasma metabolic fingerprinting to evaluate differences in plasma metabolites between healthy and Down syndrome (DS) pregnancies and to indicate novel non-invasive markers for DS prenatal diagnostics. METHODS: This was a case-control study of pregnancies between 15th - 18th gestational week. LC-MS-based metabolic fingerprinting of plasma samples was performed. RESULTS: Levels of five metabolites were significantly lower in the plasma of DS pregnancies...
August 10, 2018: Prenatal Diagnosis
Magno Alves Lopes, Felipe Oliveira Franco, Felipe Henriques, Sidney Barnabé Peres, Miguel Luiz Batista
Cancer cachexia (CC) is a multifactorial syndrome with an unknown etiology. The primary symptom is the progressive reduction of the body weight. Recently, down-regulation of adipogenic and lipogenic genes were demonstrated to be early affected during cachexia progression in adipose tissue (AT), resulting in AT remodeling. Thus, this study aimed to evaluate in a co-culture system the influence of the Lewis Lung Carcinoma (LLC) tumor cells (c/c-LLC) in an established pre-adipocyte cell line 3T3-L1 adipogenic capacity...
July 2018: Heliyon
Hagen H Kitzler, Hannes Wahl, Judith C Eisele, Matthias Kuhn, Henning Schmitz-Peiffer, Simone Kern, Brian K Rutt, Sean C L Deoni, Tjalf Ziemssen, Jennifer Linn
We performed a longitudinal case-control study on patients with clinically isolated syndrome (CIS) with the aid of quantitative whole-brain myelin imaging. The aim was (1) to parse early myelin decay and to break down its distribution pattern, and (2) to identify an imaging biomarker of the conversion into clinically definite Multiple Sclerosis (MS) based on in vivo measurable changes of myelination. Imaging and clinical data were collected immediately after the onset of first neurological symptoms and follow-up explorations were performed after 3, 6, and, 12 months...
2018: NeuroImage: Clinical
Si Ai, Jian Zheng, Cai-Xia Qiu, Xiao-Lu Lu, Xu-Wei Li
OBJECTIVE: The isobaric tags for relative and absolute quantification (iTRAQ) technique for proteomic analysis was employed to identify diagnostic markers and therapeutic targets of Shenkangling intervention or prednisone tablets in rats with adriamycin nephropathy (AN). METHODS: Fifty healthy, clean-grade Sprague-Dawley rats were selected, with 10 rats in the normal group and the remaining 40 rats receiving a tail vein injection of 5.5 mg/kg of adriamycin (ADR) to induce AN...
2018: American Journal of Translational Research
Andrea A Beckhaus, Jose A Castro-Rodriguez
CONTEXT: Down syndrome (DS) is the most common chromosomal condition in live-born infants worldwide, and lower respiratory infection caused by respiratory syncytial virus (RSV) is a leading cause of hospital admissions. OBJECTIVE: To evaluate RSV-associated morbidity among children with DS compared with a population without DS. DATA SOURCES: Four electronic databases were searched. STUDY SELECTION: All cohorts or case-control studies of DS with an assessment of RSV infection and the associated morbidity or mortality were included without language restriction...
August 9, 2018: Pediatrics
Melanie Gentil, Patricia Hugues, Christophe Desterke, Gladys Telliam, Ivan Sloma, Lucas E B Souza, Seda Baykal, Jerome Artus, Frank Griscelli, Agnes Guerci, Hyacinthe Johnson-Ansah, Adlen Foudi, Annelise Bennaceur-Griscelli, Ali G Turhan
Aryl Hydrocarbon Receptor (AHR) is an ubiquitous basic helix-loop-helix transcription factor, which is ligand-activated and involved in numerous biological processes including cell division, cell quiescence and inflammation. It has been shown that AHR is involved in normal hematopoietic progenitor proliferation in human cells. In addition, loss of AHR in knockout mice is accompanied by a myeloproliferative syndrome-like disease, suggesting a role of AHR in hematopoietic stem cell (HSC) maintenance. To study the potential role of AHR pathway in CML progenitors and stem cells, we have first evaluated the expression of AHR in UT-7 cell line expressing BCR-ABL...
2018: PloS One
Pawan Kumar, Inusha Panigrahi, Naveen Sankhyan, Chirag Ahuja, Prasoon K Goyadi
Down syndrome (DS), resulting from trisomy 21, is a common cause of mental retardation. Around 20,000 babies with DS are born every year in India. There is an increased risk of cerebral infarction in children with DS, the common causes being thromboembolism secondary to atrioventricular canal defects, right-to-left shunting, myocardial dysmotility, or cardiac valvular abnormalities. Stroke due to other causes can also occur in patients with DS, and one of these is moyamoya disease. This can be diagnosed by magnetic resonance imaging and/or angiography in these patients...
April 2018: Journal of Pediatric Neurosciences
Dayanand Hota, Mahesh Kumar, M Kavitha, Jaya S Kaushik
Atlantoaxial dislocation (AAD) occurs secondary to joint laxity between C1 and C2 vertebrae, resulting in loss of normal articulation and movement. Etiology of AAD could be genetic, inflammatory, or rarely traumatic. Majority of children with AAD are syndromic (such as Down syndrome) or genetic (such as Ehler-Danlos syndrome or Marfan syndrome). To the best of literature search, there were no reports of AAD among children with congenital hypothyroidism. This case highlights an uncommon association of AAD presenting with features of compressive myelopathy in a child with congenital hypothyroidism...
April 2018: Journal of Pediatric Neurosciences
Qianhui Yu, Zhisong He, Dmitry Zubkov, Shuyun Huang, Ilia Kurochkin, Xiaode Yang, Tobias Halene, Lothar Willmitzer, Patrick Giavalisco, Schahram Akbarian, Philipp Khaitovich
Lipids are essential to brain functions, yet they remain largely unexplored. Here we investigated the lipidome composition of prefrontal cortex gray matter in 396 cognitively healthy individuals with ages spanning 100 years, as well as 67 adult individuals diagnosed with autism (ASD), schizophrenia (SZ), and Down syndrome (DS). Of the 5024 detected lipids, 95% showed significant age-dependent concentration differences clustering into four temporal stages, and resulting in a gradual increase in membrane fluidity in individuals ranging from newborn to nonagenarian...
August 8, 2018: Molecular Psychiatry
Aimé Lumaka, Valerie Race, Hilde Peeters, Anniek Corveleyn, Zeynep Coban-Akdemir, Shalini N Jhangiani, Xiaofei Song, Gerrye Mubungu, Jennifer Posey, James R Lupski, Joris R Vermeesch, Prosper Lukusa, Koenraad Devriendt
Pathogenic variants account for 4 to 41% of patients with intellectual disability (ID) or developmental delay (DD). In Sub-Saharan Africa, the prevalence of ID is thought to be higher, but data in Central Africa are limited to some case reports. In addition, clinical descriptions of some syndromes are not available for this population. This study aimed at providing an estimate for the fraction of ID/DD for which an underlying etiological genetic cause may be elucidated and provide insights into their clinical presentation in special institutions in a Central African country...
August 8, 2018: American Journal of Medical Genetics. Part A
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