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Down Syndrom

Ariadne Hernández-Pérez, Jesús Alejandro Zamora-Briseño, Eliel Ruiz-May, Alejandro Pereira-Santana, José Miguel Elizalde-Contreras, Sirenia Pozos-González, Edgar Torres-Irineo, Jorge Hernández-López, Martha Gabriela Gaxiola-Cortés, Rossanna Rodríguez-Canul
To elucidate the proteomic responses of shrimp hemocytes to white spot syndrome virus (WSSV) infection at the proteome level, a quantitative shotgun proteomic analysis was performed to detect differentially synthesized proteins in infected hemocytes of white shrimp (Litopenaeus vannamei). We identified 1528 proteins associated to 203 gene ontology (GO) categories. The most representative GO categories were regulation of cellular processes, organic substance metabolic processes and nitrogen compound metabolic processes...
October 15, 2018: Developmental and Comparative Immunology
Matteo Lambertini, Samuel Martel, Christine Campbell, Sébastien Guillaume, Florentine S Hilbers, Uwe Schuehly, Larissa Korde, Hatem A Azim, Serena Di Cosimo, Richard C Tenglin, Jens Huober, José Baselga, Alvaro Moreno-Aspitia, Martine Piccart-Gebhart, Richard D Gelber, Evandro de Azambuja, Michail Ignatiadis
BACKGROUND: Limited data exist on the safety of using anti-human epidermal growth factor receptor 2 (HER2) targeted agents during pregnancy. To date, only retrospective studies have assessed the prognosis of patients with a pregnancy after prior early breast cancer, with no data in HER2-positive patients. METHODS: The Neoadjuvant Lapatinib and/or Trastuzumab Treatment Optimization (NeoALTTO) trial and the Adjuvant Lapatinib and/or Trastuzumab Treatment Optimization (ALTTO) trial were randomized phase 3 trials for patients with HER2-positive early breast cancer...
October 18, 2018: Cancer
Jing Zhou, Yan Liu, Chunbin Li, Zhishun Liu
BACKGROUND: Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is a common disorder. Some studies have indicated that acupuncture may ameliorate the symptoms of CP/CPPS. However, results are varied and range widely, perhaps due to different modes of assessment including timepoints, places of assessment, and especially subjective scales. We propose to determine the efficacy of acupuncture relative to sham acupuncture for patients with CP/CPPS, and compare different modes of assessment regarding the therapeutic effects of acupuncture...
October 2018: Medicine (Baltimore)
Virginia Mirra, Nicola Ullmann, Claudio Cherchi, Alessandro Onofri, Maria G Paglietti, Renato Cutrera
Bronchiolitis is the most frequent airway infection in the first 2 years of life, and the respiratory syncytial virus (RSV) is the virus more frequent responsible. In selected high-risk groups, RSV may cause severe respiratory disease leading to hospitalisation, need for mechanical ventilation, and even death. These high-risk groups include children with congenital heart disease, infants with neuromuscular impairment, cystic fibrosis, down syndrome, immunodeficiency syndromes and others specific conditions...
October 18, 2018: Minerva Pediatrica
Diego Zanetti, Filippo Di Lella, Maurizio Negri, Vincenzo Vincenti
BACKGROUND AND AIM: As in other syndromes characterized by craniofacial anomalies, middle ear cholesteatoma is known to have a high prevalence in Turner syndrome. The aim of this study was to review a multicenter experience with the surgical management of middle ear cholesteatoma in children with Turner syndrome. METHODS: We retrospectively analyzed sixteen girls with Turner syndrome who underwent otologic surgery for middle ear cholesteatoma between January 2000 and December 2012...
October 8, 2018: Acta Bio-medica: Atenei Parmensis
Jieun Song, Marsha R Mailick, Jan S Greenberg
OBJECTIVE: Parents of individuals with developmental disorders or mental health problems often provide life-long care and support to their children, which negatively affects their health in part due to chronic stress. This study aimed to examine the experience of stigma as a source of chronic stress among parents of individuals with developmental disorders or mental health problems and the effect of stigma on parental health outcomes. METHOD: Using data from the Survey of Midlife in the United States (MIDUS 2 and 3), we constructed a sample for a longitudinal analysis including 128 parents of individuals with developmental disorders (e...
September 27, 2018: Social Science & Medicine
Anis Feki, Youssef Hibaoui
Down syndrome (DS) caused by a trisomy of chromosome 21 (HSA21), is the most common genetic developmental disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment, early onset of Alzheimer's disease, congenital heart disease, hypotonia, muscle weakness and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. Among the numerous protein coding genes of HSA21, dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A ( DYRK1A ) encodes a proline-directed serine/threonine and tyrosine kinase that plays pleiotropic roles in neurodevelopment in both physiological and pathological conditions...
October 16, 2018: Brain Sciences
Laura Del Hoyo Soriano, Angela John Thurman, Leonard Abbeduto
Despite the shared presence of an intellectual disability (ID), there is a growing literature documenting important phenotypic differences between Down syndrome (DS) and fragile X syndrome (FXS). These conclusions, however, are based on a synthesis across studies, each of which typically includes only measures of a limited number of constructs, and with differing participant characteristics. Firmer conclusions regarding specific phenotypes require a single comprehensive multi-domain assessment of participants with the syndrome groups being well matched on chronological age (CA) and cognitive functioning...
2018: Frontiers in Genetics
Baozhen Qiao, April A Austin, Maria J Schymura, Marilyn L Browne
BACKGROUND: Acute lymphocytic leukemia (ALL) and acute myeloid leukemia (AML) among DS children have been studied extensively using data from clinical trials or institutional reports. The purpose of this study was to link population-based cancer and birth defects data to evaluate characteristics and survival of children with acute leukemia according to the presence of DS or other birth defects. METHODS: ALL and AML cases diagnosed between 1983 and 2012 among children aged 0-14 years were obtained from the New York State Cancer Registry...
October 13, 2018: Cancer Epidemiology
Ufuk Ateş, Nil Yaşam Taştekin, Fuad Mammadov, Ergun Ergün, Gülnur Göllü, Özlem Selvi Can, Tayfun Uçar, Meltem Bingöl-Koloğlu, Aydın Yağmurlu, Tanju Aktuğ
Ateş U, Taştekin NY, Mammadov F, Ergün E, Göllü G, Can ÖS, Uçar T, Bingöl-Koloğlu M, Yağmurlu A, Aktuğ T. Stuck tunneled central venous catheters in children: Four cases removed by angiography assistance. Turk J Pediatr 2018; 60: 221-224. Adherent tunneled catheters can usually be removed by a surgical cut down, but in some cases the line can become stuck to the wall of the central veins. In such cases, forceful traction can cause vascular injury, or fracture of the catheter. We present four cases of fixated cuffed tunneled catheters...
2018: Turkish Journal of Pediatrics
Fiorenza Stagni, Andrea Giacomini, Marco Emili, Beatrice Uguagliati, Maria Paola Bonasoni, Renata Bartesaghi, Sandra Guidi
Intellectual disability in Down syndrome (DS) has been attributed to neurogenesis impairment during fetal brain development. Consistently with explicit memory alterations observed in children with DS, fetuses with DS exhibit neurogenesis impairment in the hippocampus, a key region involved in memory formation and consolidation. Recent evidence suggests that the subiculum plays a unique role in memory retrieval, a process that is also altered in DS. While much attention has been devoted to the hippocampus, there is a striking lack of information regarding the subiculum of individuals with DS and DS models...
October 16, 2018: Brain Pathology
Gustavo Wandresen, Fernanda Sgarbi, Renato Nisihara
Enhanced health care for patients with Down syndrome (DS) results in improved overall quality of life and longer life expectancy. The main gynecologic complaints of patients with DS and their caregivers relate to menstrual cycles, hygiene and reproductive issues. Certain aspects, such as age of menarche, menstrual cycles, internal genitalia, and hormone profile are similar to those observed in the general population. However, individuals with DS may have a higher incidence of other disorders related to menstruation, such as hypothyroidism, epilepsy and use of anticonvulsants...
October 16, 2018: Gynecological Endocrinology
Jamie E Anderson, Melissa A Vanover, Payam Saadai, Rebecca A Stark, Jacob T Stephenson, Shinjiro Hirose
PURPOSE: This study seeks to update current epidemiology of Hirschsprung disease (HD) in California. METHODS: Using data from the California Office of Statewide Health Planning and Development Linked Birth (1995-2012) and Patient Discharge Databases (1995-2013), patients from either dataset with an ICD-9 diagnosis code of HD (751.3) or procedure code of Soave (48.41), Duhamel (48.65), or Swenson/other pull-through (48.49) were included. Patients > age 18 during their first admission were excluded...
October 15, 2018: Pediatric Surgery International
Samire Beqaj, Esmira E T Tërshnjaku, Merita Qorolli, Vujica Zivkovic
BACKGROUND Down syndrome (DS) is the most frequent genetic mental disability. Individuals with DS experience a variety of physical, motor, and functional challenges throughout the lifespan. However, the inter-relatedness between these domains is relatively unexplored in children with DS. This study aimed to determine which physical and motor characteristics contribute to functional performance in children and adolescents with DS. It also investigated the relationship between physical, motor, and functional domains...
October 16, 2018: Medical Science Monitor Basic Research
Lenka Kavanová, Katarína Matiašková, Lenka Levá, Kateřina Nedbalcová, Ján Matiašovic, Martin Faldyna, Jiří Salát
Porcine reproductive and respiratory syndrome virus (PRRSV) predisposes pigs to secondary bacterial infection caused by Haemophilus parasuis. The aim of the present study was to analyse the immune response of monocyte-derived macrophages (MDMs), serving as a model of macrophages accumulating at the site of inflammation. The second part of the study was focused on the role of IFNα in the production of inflammatory cytokines in co-infected MDMs. Concurrent infection with PRRSV and H. parasuis decreased gene expression of pro-inflammatory cytokines (IL-1β, IL-8) in MDMs in comparison with MDMs infected with PRRSV or H...
November 2018: Veterinary Microbiology
Ciara O'Toole, Alice S-Y Lee, Fiona E Gibbon, Anne K van Bysterveldt, Nicola J Hart
BACKGROUND: Communication and language development are areas of particular weakness for young children with Down syndrome. Caregivers' interaction with children influences language development, so many early interventions involve training parents how best to respond to their children and provide appropriate language stimulation. Thus, these interventions are mediated through parents, who in turn are trained and coached in the implementation of interventions by clinicians. As the interventions involve a considerable commitment from clinicians and families, we undertook this review to synthesise the evidence of their effectiveness...
October 15, 2018: Cochrane Database of Systematic Reviews
Wenyan Xu, Miaomiao Jin, Weilai Huang, Hong Wang, Ruikun Hu, Jingyu Li, Ying Cao
Cilia are hair-like structures that function like antennae to detect chemical and mechanical signals in the environment. Recently, phosphoinositides were shown to play an important role in cilia assembly and disassembly. However, the precise molecular and cellular mechanisms underlying this process remain unknown. Here, we report that suppression of apical phosphatidylinositol 4,5- bisphosphate [PtdIns(4,5)P2 ], by overexpressing apically targeted PtdIns(4,5)P2 phosphatase or by knocking down type I phosphatidylinositol 4-phosphate 5-kinase (Pip5k1), leads to ciliogenesis defects and polycystic kidney disease (PKD) in zebrafish embryos that phenocopied inpp5e mutant, a Joubert syndrome model...
October 15, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Priya Mendiratta, Jeanne Y Wei, Neeraj Dayama, Xiaocong Li
BACKGROUND: Patients with Down syndrome (DS) often survive into adulthood. Relatively little information is currently available regarding hospitalization outcomes among mature, older adults with DS. OBJECTIVE: To identify risk factors associated with hospital mortality rates and increased costs for hospitalized older adults with DS. METHODS: Data on hospitalized older adults with DS (≥65 years) were identified from the Nationwide Inpatient Sample database (6) from 2002 through 2012...
October 3, 2018: Journal of Alzheimer's Disease: JAD
Isil Ozgul Kalyoncu, Figen Eren Giray, Ilknur Tanboga
OBJECTIVE: To evaluate the knowledge and attitude of families having some Down syndrome patient about problems related to oral cavity and dental health issues. METHODS: The cross-sectional study was conducted at Marmara University, Faculty of Dentistry in July 2017. Families of individuals with Down Syndrome, who are members of the Turkish Down Syndrome Association, were included in the study. A self-generated questionnaire was used to collect information in 3 different sections through 43 questions related to patient's socio-demographic and medical information, data on dental visit(s) and tooth-brushing...
September 2018: JPMA. the Journal of the Pakistan Medical Association
Aakash Pandita, Astha Panghal, Girish Gupta, Vijay Singh
Chondrodysplasia punctate (CDP) is a rare group of disorders with both genetic and non-genetic underlying aetiologies. The genetic causes associated with CDP include peroxisomal disorders, type two mucolipidosis, type 3 mucopolysaccharidosis, GM1 gangliosidosis and chromosomal disorders. Peroxisomal disorders include deficiency of dihydroxyacetone phosphate acyltransferase, encoded by GNPAT, deficiency of the peroxisomal enzyme alkyl-dihydroxyacetone phosphate synthase, encoded by AGPS and Zellweger syndrome...
October 12, 2018: BMJ Case Reports
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