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Down syndrome

Carole Mast, Dominique Dardevet, Isabelle Papet
The optimisation of nutritional support for the growing number of older individuals does not usually take into account medication. Paracetamol (acetaminophen; APAP) is the first intention treatment of chronic pain that is highly prevalent and persistent in the elderly. Detoxification of APAP occurs in the liver and utilises sulfate and glutathione (GSH), both of which are issued from cysteine (Cys), a conditionally indispensable amino acid. The detoxification-induced siphoning of Cys could reduce the availability of Cys for skeletal muscle...
March 20, 2018: Nutrition Research Reviews
Brian E Powers, Nicholas A Santiago, Barbara J Strupp
The Ts65Dn mouse model of Down syndrome recapitulates the hallmark areas of dysfunction that characterize the human disorder, including impaired performance in tasks designed to tap hippocampus-dependent learning and memory. Unfortunately, performance in the water maze tasks most commonly used for this purpose can be affected by behavioral and/or physiological abnormalities characteristic of Ts65Dn mice (e.g., thigmotaxis, susceptibility to hypothermia, stress reactivity), which complicates interpretation of impaired performance...
February 2018: Behavioral Neuroscience
Ye Chen, SuNing Chen, Jian Zhang, YangMin Wang, Zhengping Jia, Xin Zhang, Xiao Han, Xiuquan Guo, XiaoDi Sun, Chen Shao, Ji Wang, Tian Lan
The current study aimed to identify a comprehensive expression-profile of microRNAs (miRNAs) in expressed prostatic secretion (EPS) collected from healthy men and patients with CP/CPPS (Chronic prostatitis/Chronic pelvic pain syndrome). After clinical screening of 382 participants, 60 healthy men and 59 IIIA CP/CPPS patients with significant pelvic-pain were included into this study from March 2012 to December 2014. High-throughput sequencing was employed to identify characteristic expression-profile of EPS-miRNAs...
February 23, 2018: Oncotarget
Aimée C Dane, Madelyn Peterson, Yvette D Miller
Adequate knowledge is a vital component of informed decision-making; however, we do not know what information women value when making decisions about noninvasive prenatal testing (NIPT). The current study aimed to identify women's information needs for decision-making about NIPT as a first-tier, non-contingent test with out-of-pocket expense and, in turn, inform best practice by specifying the information that should be prioritized when providing pre-test counseling to women in a time-limited scenario or space-limited decision support tool...
March 17, 2018: Journal of Genetic Counseling
Kathryn J Gray, Louise E Wilkins-Haug
Prenatal aneuploidy screening changed significantly in 2012 when cell-free fetal deoxyribonucleic acid (DNA) was introduced as a noninvasive prenatal test. A noninvasive prenatal test detects cell free fragments of fetal DNA from the placenta circulating in maternal blood that coexist with cell-free DNA (cfDNA) of maternal origin. Using next-generation sequencing, the noninvasive prenatal test compares maternal and fetal cfDNA ratios for chromosomes of interest (i.e., 21, 18, 13, X, and Y) to assess chromosomal aneuploidy...
April 2018: Pediatric Radiology
Larisa V Lysenko, Jeesun Kim, Francisco Madamba, Anna A Tyrtyshnaia, Aarti Ruparelia, Alexander M Kleschevnikov
Down syndrome (DS) is the most frequent genetic cause of developmental abnormalities leading to intellectual disability. One notable phenomenon affecting the formation of nascent neural circuits during late developmental periods is developmental switch of GABA action from depolarizing to hyperpolarizing mode. We examined properties of this switch in DS using primary cultures and acute hippocampal slices from Ts65Dn mice, a genetic model of DS. Cultures of DIV3-DIV13 Ts65Dn and control normosomic (2 N) neurons were loaded with FURA-2 AM, and GABA action was assessed using local applications...
March 14, 2018: Neurobiology of Disease
Benjamin H Goot, Jon Kaufman, Zhaoxing Pan, David W A Bourne, Francis Hickey, Mark Twite, Jeffrey Galinkin, Uwe Christians, Jeannie Zuk, Eduardo M da Cruz
OBJECTIVES: To assess if morphine pharmacokinetics are different in children with Down syndrome when compared with children without Down syndrome. DESIGN: Prospective single-center study including subjects with Down syndrome undergoing cardiac surgery (neonate to 18 yr old) matched by age and cardiac lesion with non-Down syndrome controls. Subjects were placed on a postoperative morphine infusion that was adjusted as clinically necessary, and blood was sampled to measure morphine and its metabolites concentrations...
March 15, 2018: Pediatric Critical Care Medicine
Ana Carla Peixoto Guissoni, Célia Maria Almeida Soares, Kareem R Badr, Fabiola Sousa Ficcadori, Ana Flávia Alves Parente, Juliana Alves Parente, Lilian Cristina Baeza, Menira Souza, Divina das Dores de Paula Cardoso
Human Adenoviruses (HAdVs) are etiological agents of different syndromes such as gastroenteritis, cystitis, ocular, and respiratory diseases, and infection by these viruses may cause alterations in cellular homeostasis. The objective of the study was the proteomic analysis of A-549 cells infected with HAdV-40 using LC-MS. At 30 h of infection, the quantitative analysis revealed 336 differentially expressed proteins. From them, 206 were induced (up-regulated) and 130 were suppressed (down-regulated). The majority of up-regulated proteins were related to energy, cellular organization, stress response, and apoptosis pathways...
March 15, 2018: Virus Genes
Honglei Zhang, Xing Yang, Xu Feng, Haibo Xu, Qin Yang, Li Zou, Mei Yan, Dequan Liu, Xiaosan Su, Baowei Jiao
The high-risk of tumor initiation in patients with Turner syndrome (TS) characterized by X chromosome monosomy in women has been well established and aneuploidy, defined as an abnormal number of chromosomes, is a common feature in human cancer. However, the underlying mechanisms of X chromosome aneuploidy promoting tumorigenesis remain obscure. We propose that chromosome-wide gene dosage imbalance (CDI) may serve as an important mechanism. Here, we assess the relative expression ratios of X chromosome and autosomes (expression ratios of X:AA) between tumor samples and adjacent normal samples across 16 tumor types using expression datasets from The Cancer Genome Atlas (TCGA) project...
March 15, 2018: Molecular Genetics and Genomics: MGG
Israr Bin M Ibrahim, Ramana M Pidaparti, Kevin R Ward
Ventilation-induced lung injury is a common problem faced by patients with respiratory problems who require mechanical ventilation (MV). This injury may lead to a greater chance of developing or exacerbating the acute respiratory distress syndrome which further complicates the therapeutic use of MV. The chain of events begins with the MV initiating an immune response that leads to inflammation induced tissue material alteration (stiffening) and eventually the loss of lung resistance. It is clear from this sequence of events that the phenomenon of ventilation induced injury is multi-scale by nature and, hence, requires holistic analysis involving simulations and informatics...
2018: IEEE Journal of Translational Engineering in Health and Medicine
Tae Hoon Ro, Lance Edmonds
Piriformis syndrome is an uncommon condition that causes significant pain in the posterior lower buttocks and leg due to entrapment of the sciatic nerve at the level of the piriformis muscle. In the typical anatomical presentation, the sciatic nerve exits directly ventral and inferior to the piriformis muscle and continues down the posterior leg. Several causes that have been linked to this condition include trauma, differences in leg length, hip arthroplasty, inflammation, neoplastic mass effect, and anatomic variations...
2018: Journal of Clinical Imaging Science
Changqing Lu, Lihua Dong, Hui Zhou, Qianmei Li, Guojiao Huang, Shu Jun Bai, Linchuan Liao
Oligodendrocytes are the myelin-producing cells of the central nervous system (CNS). A variety of brain disorders from "classical" demyelinating diseases, such as multiple sclerosis, stroke, schizophrenia, depression, Down syndrome and autism, are shown myelination defects. Oligodendrocyte myelination is regulated by a complex interplay of intrinsic, epigenetic and extrinsic factors. Gpr17 (G protein-coupled receptor 17) is a G protein-coupled receptor, and has been identified to be a regulator for oligodendrocyte development...
March 14, 2018: Scientific Reports
Sally-Ann Cooper, Elita Smiley, Linda Allan, Jillian Morrison
BACKGROUND: Incidence and determinants of affective disorders among adults with intellectual disabilities are unknown. Aims To investigate affective disorder incidence, and determinants of unipolar depression, compared with general population reports. METHOD: Prospective cohort study measuring mental ill health of adults with mild to profound intellectual disabilities living within a defined community, over 2 years. RESULTS: There was 70% cohort retention (n = 651)...
March 15, 2018: British Journal of Psychiatry: the Journal of Mental Science
Julie A Reisz, Alexander S Barrett, Travis Nemkov, Kirk C Hansen, Angelo D'Alessandro
Proteins have been historically regarded as "nature's robots": Molecular machines that are essential to cellular/extracellular physical mechanical properties and catalyze key reactions for cell/system viability. However, these robots are kept in check by other protein-based machinery to preserve proteome integrity and stability. During aging, protein homeostasis is challenged by oxidation, decreased synthesis, and increasingly inefficient mechanisms responsible for repairing or degrading damaged proteins...
March 14, 2018: Expert Review of Proteomics
Priscila H A Oliveira, Beatriz S Souza, Eimi N Pacheco, Michele S Menegazzo, Ivan S Corrêa, Paulo R G Zen, Rafael F M Rosa, Claudia C Cesa, Lucia C Pellanda, Manuel A P Vilela
BACKGROUND: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes...
January 2018: Arquivos Brasileiros de Cardiologia
Cláudia Lopes Carvalho, Ariella Fornachari Ribeiro Belan, Leila Regina de Castro, Márcia Radanovic
PURPOSE: To characterize the linguistic profile of adults and elderly with Down Syndrome (DS) using the Arizona Battery for Communication Disorders of Dementia (ABCD). METHODS: Thirty adult individuals with DS were evaluated through the MoCA cognitive battery, four functional scales (Pfeffer, Lawton-IADL, Katz-IADL and IQCODE) and the ABCD battery, which evaluates Mental State, Episodic Memory, Linguistic Expression, Linguistic Comprehension and Visuospatial Construction...
March 12, 2018: CoDAS
Jessica MacKay, Helen Leonard, Kingsley Wong, Andrew Wilson, Jenny Downs
AIM: Respiratory illness is a major cause of morbidity and mortality in Rett syndrome. This study investigated respiratory morbidity and relationships with age, mutation type, feeding, and walking status. METHOD: Families registered with the InterRett database (n=399) provided data on the health of their child with Rett syndrome (age 2-57y). Hospital admissions because of lower respiratory tract infection (LRTI) over a 5-year exposure period were investigated by age, mutation type, enteral feeding, and walking status...
March 14, 2018: Developmental Medicine and Child Neurology
A Dunham, D Kinnear, L Allan, E Smiley, S-A Cooper
BACKGROUND: People with intellectual disabilities face a much greater burden and earlier onset of physical and mental ill-health than the general adult population. Physical-mental comorbidity has been shown to result in poorer outcomes in the general population, but little is known about this relationship in adults with intellectual disabilities. AIMS: To identify whether physical ill-health is associated with mental ill-health in adults with intellectual disabilities and whether the extent of physical multi-morbidity can predict the likelihood of mental ill-health...
March 12, 2018: Journal of Intellectual Disability Research: JIDR
Takayuki Arai, Miki Fuse, Yusuke Goto, Kanya Kaga, Akira Kurozumi, Yasutaka Yamada, Sho Sugawara, Atsushi Okato, Tomohiko Ichikawa, Tomonori Yamanishi, Naohiko Seki
Interstitial cystitis (IC), also known as bladder pain syndrome, is a chronic inflammatory disease that affects the bladder. The symptoms of IC vary, including feeling an urgent need for immediate urination and of needing to urinate often, as well as bladder or pelvic pain. Despite its high incidence, no molecular diagnostic methods are available for IC, and the molecular pathogenesis is unknown. microRNAs (miRNA) can regulate expression of RNA transcripts in cells and aberrant expression of miRNAs is associated with several human diseases...
March 12, 2018: Journal of Human Genetics
Xuejin Zhang, Chi Yong Kim, Tori Worthen, William H Witola
Cryptosporidium is a highly prevalent protozoan parasite that is the second leading cause of childhood morbidity and mortality due to diarrhea in developing countries, and causes a serious diarrheal syndrome in calves, lambs and goat kids worldwide. Development of fully effective drugs against Cryptosporidium has mainly been hindered by the lack of genetic tools for functional characterization and validation of potential molecular drug targets in the parasite. Herein, we report the development of a morpholino-based in vivo approach for Cryptosporidium parvum gene knockdown to facilitate determination of the physiological roles of the parasite's genes in a murine model...
March 9, 2018: International Journal for Parasitology
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