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Down Syndrom

Irmgard U Haussmann, Pinar Ustaoglu, Ulrike Brauer, Yash Hemani, Thomas C Dix, Matthias Soller
Alternative splicing is a key feature of human genes, yet studying its regulation is often complicated by large introns. The Down Syndrome Cell Adhesion Molecule (Dscam) gene from Drosophila is one of the most complex genes generating vast molecular diversity by mutually exclusive alternative splicing. To resolve how alternative splicing in Dscam is regulated, we first developed plasmid-based UAS reporter genes for the Dscam variable exon 4 cluster and show that its alternative splicing is recapitulated by GAL4-mediated expression in neurons...
December 12, 2018: Nucleic Acids Research
(no author information available yet)
No abstract text is available yet for this article.
November 2018: American Journal of Medical Genetics. Part A
Michael S Rafii
Alzheimer's disease (AD) pathology and early-onset dementia develop almost universally in Down syndrome (DS). AD is defined neuropathologically by the presence of extracellular plaques of aggregated amyloid β protein and intracellular neurofibrillary tangles (NFTs) of aggregated hyperphosphorylated tau protein. The development of radiolabeled positron emission tomography (PET) ligands for amyloid plaques and tau tangles enables the longitudinal assessment of the spatial pattern of their accumulation in relation to symptomatology...
December 8, 2018: Developmental Neurobiology
E Schworer, D J Fidler, E Lunkenheimer, L A Daunhauer
BACKGROUND: Parenting behaviours influence many domains of child development, and recent work has demonstrated the specific effects of parenting on the development of executive function (EF) abilities. The relationship between parent-child interaction patterns and EF has been examined in typically developing (TD) children but has not yet been examined in dyads where the child has a diagnosis of Down syndrome (DS). METHOD: The current study examines the differences in patterns of parenting behaviours between DS dyads and dyads with TD children equated on nonverbal mental age...
December 10, 2018: Journal of Intellectual Disability Research: JIDR
Jenny X Chen, Elliott D Kozin, Jennifer O'Malley, Ivan Chebib, E Tessa Hedley-Whyte, William Faquin, Joseph Nadol, Alicia M Quesnel
OBJECTIVES/HYPOTHESIS: Investigate the otopathology of angiosarcoma of the temporal bone, which has not been previously described in the literature. STUDY DESIGN: Postmortem evaluation and literature review. METHODS: Postmortem histological evaluation of the temporal bones and review of the literature for the treatment and prognosis of this rare disease were performed. RESULTS: A 50-year-old male with right chronic otitis media presented with progressive hearing loss, disequilibrium, otalgia, and acute facial paresis...
December 11, 2018: Laryngoscope
J-F Zhang, C-M Yu, L-L Yan, J-L Ma
OBJECTIVE: Polycystic ovarian syndrome (PCOS) is a common disorder in gynecological practice. Anti-mullerian hormone (AMH) and ovarian granular stem cell factor (SCF) participate in the occurrence and progression of PCOS. This study aimed to investigate the expression of AMH and SCF in PCOS patients and attempt to analyze the effect of AMH on SCF. PATIENTS AND METHODS: Both PCOS and non-PCOS patients who received in vitro fertilization (IVF) in our hospital were recruited for measuring AMH and SCF levels in serum, ovarian follicular fluid and granular cells by using enzyme-linked immunosorbent assay (ELISA)...
November 2018: European Review for Medical and Pharmacological Sciences
Yang-Min Zheng, Bo Chen, Jian-Dong Jiang, Jing-Pu Zhang
Epilepsy is a neuronal dysfunction syndrome characterized by transient and diffusely abnormal discharges of neurons in the brain. Previous studies have shown that mutations in the syntaxin 1b ( stx1b ) gene cause a familial, fever-associated epilepsy syndrome. It is unclear as to whether the stx1b gene also correlates with other stimulations such as flashing and/or mediates the effects of antiepileptic drugs. In this study, we found that the expression of stx1b was present mainly in the brain and was negatively correlated with seizures in a pentylenetetrazole (PTZ)-induced seizure zebrafish model...
2018: Frontiers in Molecular Neuroscience
Chao Zhao, Lin Zhu, Ruijin Li, Hailin Wang, Zongwei Cai
Exposure to airborne particulate matter (PM) 2.5 induced various adverse health effects, such as metabolic syndrome, systemic inflammation and respiratory infection. However, a global influence of PM2.5 -induced metabolic and proteomic disorders remains confusing, and the underlying mechanism is still under-explored. Herein, LC-MS/MS-based metabolomics, lipidomics and isobaric tags for relative and absolute quantification (iTRAQ)-based proteomics were applied to analyze the toxicological characteristics of PM2...
December 1, 2018: Environmental Pollution
Xiaosong Yuan, Wei Long, Jianbing Liu, Bin Zhang, Wenbai Zhou, Jian Jiang, Huiyan Wang, Bin Yu
BACKGROUND: We examined the associations between Down's serum screening analytes and pregnancy outcomes in Chinese women. METHODS: A retrospective cohort study of 2470 pregnant women was conducted. Maternal serum triple tests (AFP, fβ-hCG, uE3), maternal characteristics and pregnancy outcomes were recorded from our prenatal screening and hospitalization information system, respectively. RESULTS: The elevated concentration of uE3 in the early-second trimester was associated with increased risk of LGA infants and macrosomia, decreased risk of PE and small SGA infants (for LGA: OR: 1...
December 6, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Jennifer Marshall, Rema Ramakrishnan, Adam L Slotnick, Jean Paul Tanner, Jason L Salemi, Russell S Kirby
OBJECTIVE: To examine the experiences of parents or caregivers of children with Down syndrome related to prenatal care, the birth setting, primary and specialty care, and care coordination. DESIGN: Cross-sectional, mixed-methods study. SETTING: Florida. PARTICIPANTS: English- or Spanish-speaking parents/primary caregivers (N = 101) of children who were 0 to 18 years old, had a diagnosis of Down syndrome, and were born in Florida...
December 6, 2018: Journal of Obstetric, Gynecologic, and Neonatal Nursing: JOGNN
Li Xiaoli, Zou Wujun, Liu Jing
Acute lung injury (ALI) and its more serious form, respiratory distress syndrome (ARDS), are considered as an acute and severe inflammatory process existing in lungs, and still remain high mortality rates. Tripartite motif 8 (TRIM8) contains an N-terminal RING finger, which is followed by two B-boxes and a coiled-coil domain, belonging to the TRIM/RBCC family and playing significant role in meditating inflammation, oxidative stress and apoptosis. In the study, we investigated the role of TRIM8 in ALI induced by lipopolysaccharide (LPS) and the underlying molecular mechanisms...
December 4, 2018: Biochemical and Biophysical Research Communications
Gerard Nuovo, Esmerina Tili, Hamdy Awad, Jean-Jacques Michaille
No abstract text is available yet for this article.
November 2018: Médecine Sciences: M/S
Rumit Singh Kakar, Hilary B Greenberger, Patrick O McKeon
CONTEXT: Anterior knee pain also known as patellofemoral pain syndrome (PFPS) is a frequently encountered musculoskeletal disorder that worsens with activity. The multifactorial etiology of PFPS alters lower extremity mechanics, increasing patellofemoral joint stresses during weight-bearing tasks. Kinesio (KT) and McConnell (MC) tapings are often incorporated into the treatment, but their efficacy is still unclear. OBJECTIVES: To test the efficacy of KT, MC and sham taping (ST) in improving knee mechanics and reducing pain during activity...
December 11, 2018: Journal of Sport Rehabilitation
Jordan Belisle, Caleb R Stanley, Amani M Alholail, Megan E Galliford, Mark R Dixon
The present study evaluated the efficacy of a set of procedures for bringing tact extensions of abstract tactile properties under stimulus control. Two participants with disabilities who communicated via a picture-based communication system received reinforcement for tacts of tactile properties of four wet/dry and four hard/soft stimuli. Test trials were conducted to evaluate the extent to which the participants' correct responding generalized to novel stimuli with the same tactile properties. The results suggest that the procedures were effective in bringing tact extensions of abstract tactile properties under stimulus control...
December 7, 2018: Journal of Applied Behavior Analysis
Bi Jiang, Jianxin Liu, Weichao He, Sisi Wei, Yanmei Hu, Xinjian Zhang
OBJECTIVE: To evaluate the effect of preconception examinations programs on the prevention of birth defects in Dongguan City during 2013-2017. METHODS: The data were from preconception examinations system and the birth defects surveillance system during 2013-2017. The study population included 63 175 infants born to mothers accepted preconception examinations during pregnancy (the screening group) and 649 862 infants whose mother did not check (the control group)...
December 6, 2018: Journal of Maternal-fetal & Neonatal Medicine
Adriane L Baylis, Lawrence D Shriberg
Purpose: Speech sound disorders and velopharyngeal dysfunction are frequent features of 22q11.2 deletion syndrome (22q). We report the first estimate of the prevalence of motor speech disorders (MSDs) in youth with 22q. Method: Seventeen children and adolescents with 22q completed an assessment protocol that included a conversational speech sample. Data reduction included phonetic transcription, perceptual speech ratings, prosody-voice coding, and acoustic analyses...
December 4, 2018: American Journal of Speech-language Pathology
Chiara Farroni, Emiliano Marasco, Valentina Marcellini, Ezio Giorda, Diletta Valentini, Stefania Petrini, Valentina D'Oria, Marco Pezzullo, Simona Cascioli, Marco Scarsella, Alberto G Ugazio, Giovanni C De Vincentiis, Ola Grimsholm, Rita Carsetti
Children with Down Syndrome (DS) suffer from immune deficiency with a severe reduction in switched memory B cells (MBCs) and poor response to vaccination. Chromosome 21 (HSA21) encodes two microRNAs (miRs), miR-125b, and miR-155, that regulate B-cell responses. We studied B- and T- cell subpopulations in tonsils of DS and age-matched healthy donors (HD) and found that the germinal center (GC) reaction was impaired in DS. GC size, numbers of GC B cells and Follicular Helper T cells (TFH ) expressing BCL6 cells were severely reduced...
2018: Frontiers in Immunology
Glenn E Palomaki, Edward M Kloza
PURPOSE: We systematically reviewed the published literature on test failure rates for the sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome. METHODS: We searched peer-reviewed English publications with diagnostic results on all pregnancies that provided test failure rates. Data on the odds of failure in Down syndrome and euploid pregnancies and the impact of repeat testing were extracted. Random-effects modeling was then used to identify moderators that could explain variability...
November 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Huixia Zhang, Wei Li
BACKGROUND/AIMS: The role of miR-15 in ulcerative colitis (UC) is unclear. In this study, we found that miR-15 downregulated the expression of adenosine A2a receptor (A2aAR) in the colonic tissues of patients with UC and in HT-29 human colonic epithelial cells. METHODS: The study population comprised patients with UC (n=23), irritable bowel syndrome (IBS, n=22), and healthy subjects (n = 20). The levels of miR-15, A2aAR, and protein in colon tissue biopsies were determined by real-time quantitative reverse transcription polymerase chain reaction, immunofluorescence staining, and Western blotting...
December 4, 2018: Cellular Physiology and Biochemistry
Chao Yang, Chencheng Yao, Ruhui Tian, Zijue Zhu, Liangyu Zhao, Peng Li, Huixing Chen, Yuhua Huang, Erlei Zhi, Yuehua Gong, Yunjing Xue, Hong Wang, Qingqing Yuan, Zuping He, Zheng Li
MicroRNAs (miRNAs) play important roles in mammalian spermatogenesis, which is highly dependent on Sertoli cells. However, the functions and mechanisms of miRNAs in regulating human Sertoli cells remain largely unknown. Here, we report that hsa-miR-202-3p mediates the proliferation, apoptosis, and synthesis function of human Sertoli cells. miR-202-3p was upregulated in Sertoli cells of Sertoli cell-only syndrome (SCOS) patients compared with obstructive azoospermia (OA) patients with normal spermatogenesis...
October 25, 2018: Molecular Therapy. Nucleic Acids
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