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Down Syndrom

Juan José Casañas, Macarena González-Corrales, Jesús David Urbano-Gámez, Alexandra Alves-Sampaio, José Antonio Troca-Marín, María Luz Montesinos
Trisomy 21, also known as Down syndrome (DS), is the most frequent genetic cause of intellectual impairment. In mouse models of DS, deficits in hippocampal synaptic plasticity have been observed, in conjunction with alterations to local dendritic translation that are likely to influence plasticity, learning and memory. Here we show that expression of a local translational regulator, the Cytoplasmic Polyadenylation Element Binding Protein 1 (CPEB1), is enhanced in hippocampal neurons from the Ts1Cje DS mouse model...
February 11, 2019: Molecular and Cellular Neurosciences
Momoko Inoue, Kazuhiro Kajiwara, Ayumi Yamaguchi, Tohru Kiyono, Osamu Samura, Hidenori Akutsu, Haruhiko Sago, Aikou Okamoto, Akihiro Umezawa
Down syndrome is the most frequent chromosomal abnormality among live-born infants. All Down syndrome patients have mental retardation and are prone to develop early onset Alzheimer's disease. However, it has not yet been elucidated whether there is a correlation between the phenotype of Down syndrome and the extra chromosome 21. In this study, we continuously cultivated induced pluripotent stem cells (iPSCs) with chromosome 21 trisomy for more than 70 weeks, and serendipitously obtained revertant cells with normal chromosome 21 diploids from the trisomic cells during long-term cultivation...
February 13, 2019: Laboratory Investigation; a Journal of Technical Methods and Pathology
Tingting Xie, Qiaoyi Xu, Hanxi Wan, Shunpeng Xing, Chen Shang, Yuan Gao, Zhengyu He
Pulmonary fibrosis is a major cause of death in patients with acute respiratory distress syndrome (ARDS). Our previous study revealed that lipopolysaccharide (LPS) challenge could lead to mouse lung fibroblast proliferation. Additionally, inhibition of autophagy in lung fibroblasts was also reported to be crucial during the process of pulmonary fibrosis. However, the correlation between proliferation and inhibition of autophagy of lung fibroblasts and the underlying mechanism remain unknown. In this study, we report that autophagy was inhibited in mouse lung fibroblasts after LPS challenge, and was accompanied by activation of the PI3K-Akt-mTOR signaling pathway...
February 13, 2019: Laboratory Investigation; a Journal of Technical Methods and Pathology
Rudy J Castellani, Germán Plascencia-Villa, George Perry
The identification of amyloid-β precursor protein (APP) pathogenic mutations in familial early onset Alzheimer's disease (AD), along with knowledge that amyloid-β (Aβ) was the principle protein component of senile plaques, led to the establishment of the amyloid cascade hypothesis. Down syndrome substantiated the hypothesis, given an extra copy of the APP gene and invariable AD pathology hallmarks that occur by middle age. An abundance of support for the amyloid cascade hypothesis followed. Prion-like protein misfolding and non-Mendelian transmission of neurotoxicity are among recent areas of investigation...
February 13, 2019: Laboratory Investigation; a Journal of Technical Methods and Pathology
Qiujun Yu, Yi-Yin Tai, Ying Tang, Jingsi Zhao, Vinny Negi, Miranda K Culley, Jyotsna Pilli, Wei Sun, Karin Brugger, Johannes Mayr, Rajeev Saggar, Rajan Saggar, W Dean Wallace, David J Ross, Aaron B Waxman, Stacy G Wendell, Steven J Mullett, John Sembrat, Mauricio Rojas, Omar F Khan, James E Dahlman, Masataka Sugahara, Nobuyuki Kagiyama, Taijyu Satoh, Manling Zhang, Ning Feng, John Gorcsan Iii, Sara O Vargas, Kathleen J Haley, Rahul Kumar, Brian B Graham, Robert Langer, Daniel G Anderson, Bing Wang, Sruti Shiva, Thomas Bertero, Stephen Y Chan
BACKGROUND: Deficiencies of iron-sulfur (Fe-S) clusters, metal complexes that control redox state and mitochondrial metabolism, have been linked to pulmonary hypertension (PH), a deadly vascular disease with poorly defined molecular origins. The BolA Family Member 3 (BOLA3) regulates Fe-S biogenesis, and mutations in BOLA3 result in multiple mitochondrial dysfunction syndrome, a fatal disorder associated with PH. The mechanistic role of BOLA3 in PH remains undefined. METHODS: In vitro assessment of BOLA3 regulation and gain and loss of function assays were performed in human pulmonary artery endothelial cells (PAECs) using siRNA and lentiviral vectors expressing the mitochondrial isoform of BOLA3...
February 14, 2019: Circulation
Hadri Hadi Yusof, Han-Chung Lee, Eryse Amira Seth, Xiangzhong Wu, Chelsee A Hewitt, Hamish S Scott, Pike-See Cheah, Yue-Ming Li, De-Ming Chau, King-Hwa Ling
Notch signalling pathway is involved in the proliferation of neural progenitor cells (NPCs), to inhibit neuronal cell commitment and to promote glial cell fate. Notch protein is cleaved by gamma-secretase, a multisubunit transmembrane protein complex that releases the Notch intracellular domain (NICD) and subsequently activates the downstream targets. Down syndrome (DS) individuals exhibit an increased number of glial cells (particularly astrocytes), and reduced number of neurons suggesting the involvement of Notch signalling pathway in the neurogenic-to-gliogenic shift in DS brain...
February 13, 2019: Journal of Molecular Neuroscience: MN
Salvatore Coppola, Vincenzo Cuomo, Cesare Gerardo Riccio, Ludovica d'Apice, Walter de Simone, Giovambattista Capasso
Atypical hemolytic-uremic syndrome (aHUS) is a rare, potentially lethal (1-4) systemic disorder, capable of affecting both adults and children, causing thrombotic microangiopathy (TMA) (5) that leads to the formation of thrombus within small blood vessels with multiple organ failure. The pathogenesis of the aHUS is part of a sort of chronic and uncontrolled activation of the complement system by genetic mutation of some proteins usually responsible for its self-regulation (6,7). Today, the rapid diagnosis of the disease and the timely start of treatment with eculizumab, improve outcomes of renal failure, stroke and heart attack (8-10)...
February 2019: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
Jingxia Liu, Xihua Chen, Qinqin Wang, Mengmeng Xiao, Donglai Zhong, Wei Sun, Guangyu Zhang, Zhiyong Zhang
Field-effect transistor (FET) biosensors based on low-dimensional materials present the advantages of low cost, high speed, small size, and excellent compatibility with integrated circuits (ICs). In this work, we fabricated highly sensitive FET-based DNA biosensors based on chemical vapor deposition (CVD)-grown monolayer MoS2 films in batches and explored their application in noninvasive prenatal testing (NIPT) for trisomy 21 syndrome. Specifically, MoS2 was functionalized with gold nanoparticles (Au NPs) of an optimized size and at an ideal density, and then, probe DNAs for the specific capture of target DNAs were immobilized on the nanoparticles...
February 13, 2019: Nano Letters
Peter Giudice-Nairn, Jenny Downs, Kingsley Wong, Dylan Wilson, Daniel Ta, Michael Gattas, David Amor, Elizabeth Thompson, Cathy Kirrali-Borri, Carolyn Ellaway, Helen Leonard
AIM: The aim of this study was to assess the incidence and prevalence of MECP2 duplication syndrome in Australian children and further define its phenotype. METHODS: The Australian Paediatric Surveillance Unit was used to identify children with MECP2 duplication syndrome between June 2014 and November 2017. Reporting clinicians were invited to complete a questionnaire. Clinician data (n = 20) were supplemented with information from the International Rett Syndrome Phenotype Database and from caregivers (n = 7)...
February 12, 2019: Journal of Paediatrics and Child Health
Haiyan Ren, Weibin Qiu, Chen Peng, Ying Ding, Benju Zhu, Qiang Li, Xu Chen
INTRODUCTION: The purpose of this investigation was to elucidate whether miR-125b targeting p38MAPK could relieve cognitive impairment of obstructive sleep apnea hypopnea syndrome (OSAHS) mice models. MATERIAL AND METHODS: The mice models were categorized into untreated control (UC), 10% continuous hypoxic (CH), 10% chronic intermittent hypoxia (CIH) and 5% chronic intermittent hypoxia (CIH) groups. Morris Water Maze, spatial navigation test and spatial probe test were conducted to appraise the learning, memorizing and cognitive abilities of mice models...
February 11, 2019: Current Neurovascular Research
Sonja M Sachse, Sam Lievens, Luís F Ribeiro, Dan Dascenco, Delphine Masschaele, Katrien Horré, Anke Misbaer, Nele Vanderroost, Anne Sophie De Smet, Evgenia Salta, Maria-Luise Erfurth, Yoshiaki Kise, Siegfried Nebel, Wouter Van Delm, Stéphane Plaisance, Jan Tavernier, Bart De Strooper, Joris De Wit, Dietmar Schmucker
DSCAM and DSCAML1 are immunoglobulin and cell adhesion-type receptors serving important neurodevelopmental functions including control of axon growth, branching, neurite self-avoidance, and neuronal cell death. The signal transduction mechanisms or effectors of DSCAM receptors, however, remain poorly characterized. We used a human ORFeome library to perform a high-throughput screen in mammalian cells and identified novel cytoplasmic signaling effector candidates including the Down syndrome kinase Dyrk1a, STAT3, USP21, and SH2D2A...
February 11, 2019: EMBO Journal
Inga Steppacher, Johanna Kissler
BACKGROUND: There is a growing number of children surviving birth complications with severe, multiple disabilities. Unfortunately, this is not paralleled by equal growth in knowledge about adequate therapeutic approaches. Some publications showed that Hippotherapy could, under certain circumstances, be a very useful complimentary therapy for a range of disabilities. But it remains unclear if riding could even help a quadriplegic individual with multiple brain damage and tracheal ventilation...
February 11, 2019: Die Rehabilitation
Rico Lepzien, Gregory Rankin, Jamshid Pourazar, Ala Muala, Anders Eklund, Johan Grunewald, Anders Blomberg, Anna Smed-Sörensen
Sarcoidosis is a T-cell driven inflammatory disease characterized by granuloma formation. Mononuclear phagocytes (MNPs)-macrophages, monocytes, and dendritic cells (DCs)-are likely critical in sarcoidosis as they initiate and maintain T cell activation and contribute to granuloma formation by cytokine production. Granulomas manifest primarily in lungs and lung-draining lymph nodes (LLNs) but these compartments are less studied compared to blood and bronchoalveolar lavage (BAL). Sarcoidosis can present with an acute onset (usually Löfgren's syndrome (LS)) or a gradual onset (non-LS)...
February 11, 2019: Journal of Leukocyte Biology
H Honoré, K Eggertsen, S Sondergaard
BACKGROUND: Patients suffering brain injury may experience paroxystic sympathetic hyperactivity, presenting diagnostic and therapeutic challenges in neurointensive rehabilitation. The syndrome has been modelled as peripheral and central excitatory:inhibitory ratios of autonomous nervous activity. Another model represents the symptoms as oscillations of the two components of the autonomous nervous system. In therapeutic framework, the syndrome is perceived as the patient misconstruing sensory input relating body positioning...
February 4, 2019: NeuroRehabilitation
Nicole Eady, Rory Sheehan, Khadija Rantell, Amanda Sinai, Jane Bernal, Ingrid Bohnen, Simon Bonell, Ken Courtenay, Karen Dodd, Dina Gazizova, Angela Hassiotis, Richard Hillier, Judith McBrien, Kamalika Mukherji, Asim Naeem, Natalia Perez-Achiaga, Vijaya Sharma, David Thomas, Zuzana Walker, Jane McCarthy, André Strydom
No abstract text is available yet for this article.
November 2018: British Journal of Psychiatry: the Journal of Mental Science
Koichiro Niwa
A bicuspid aortic valve and/or coarctation of the aorta (COA) are often associated with dilatation of the ascending aorta and para-coarctation. Congenital heart diseases (CHD), such as truncus arteriosus, transposition of the great arteries (TGA), tetralogy of Fallot (TOF), hypoplastic left heart syndrome (HLHS), single ventricle with pulmonary stenosis/atresia and the Fontan procedure, are also associated with aortic root dilatation, aneurysm and rarely, dissection, which can be fatal and require aortic valve and root surgery...
December 2018: Cardiovascular Diagnosis and Therapy
Gwendolin Manegold-Brauer, Ron Maymon, Shimrit Shor, Howard Cuckle, Ulrich Gembruch, Annegret Geipel
PURPOSE: To perform a multicenter prospective study of ultrasound prenasal thickness (PT), and nasal bone length (NBL) measurement at 11-14 weeks' gestation. METHODS: Ultrasound PT and NBL determination was performed in 504 normal fetuses and 17 fetuses with Down's syndrome (DS). Measurements were made from mid-sagittal 2D images acquired using a standardized technique during nuchal translucency (NT) examination. PT and NBL values were expressed in multiples of the gestation-specific normal median (MoM) and as the PT/NBL ratio...
February 9, 2019: Archives of Gynecology and Obstetrics
Anne-Marie Laberge, Stanislav Birko, Marie-Ève Lemoine, Jessica Le Clerc-Blain, Hazar Haidar, Aliya O Affdal, Charles Dupras, Vardit Ravitsky
OBJECTIVE: This study sought to assess Canadian pregnant women's and their partners' preferences for information about non-invasive prenatal testing (NIPT). METHODS: Pregnant women and their partners across Canada were surveyed as part of the Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood (PEGASUS) study. RESULTS: A total of 882 pregnant women and 395 partners participated. Women preferred being informed by a physician (77...
February 7, 2019: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Ni Cheng, Sinan Chen, Xinyan Liu, Haoan Zhao, Wei Cao
Schisandrachinensis bee pollen has been used as a health food in China for centuries; however, its bioactive constituents and functions are not very clear. In this study, we investigated the phenolic compounds of Schisandrachinensis bee pollen extract (SCPE) by UHPLC-Q-Orbitrap-HRMS/HPLC-DAD-ECD and its prevention from nonalcoholic fatty liver disease (NAFLD) and modulation of gut microbiota in high fat diet induced obese C57BL/6 mice. The results showed that 12 phenolic compounds were identified in SCPE, and naringenin, rutin and chrysin were the main constituents...
February 6, 2019: Nutrients
Sylvia E Perez, Jennifer C Miguel, Bin He, Michael Malek-Ahmadi, Eric E Abrahamson, Milos D Ikonomovic, Ira Lott, Eric Doran, Melissa J Alldred, Stephen D Ginsberg, Elliott J Mufson
Although, by age 40, individuals with Down syndrome (DS) develop amyloid-β (Aβ) plaques and tau-containing neurofibrillary tangles (NFTs) linked to cognitive impairment in Alzheimer's disease (AD), not all people with DS develop dementia. Whether Aβ plaques and NFTs are associated with individuals with DS with (DSD +) and without dementia (DSD -) is under-investigated. Here, we applied quantitative immunocytochemistry and fluorescent procedures to characterize NFT pathology using antibodies specific for tau phosphorylation (pS422, AT8), truncation (TauC3, MN423), and conformational (Alz50, MC1) epitopes, as well as Aβ and its precursor protein (APP) to frontal cortex (FC) and striatal tissue from DSD + to DSD - cases...
February 7, 2019: Acta Neuropathologica
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