keyword
MENU ▼
Read by QxMD icon Read
search

Down's syndrome

keyword
https://www.readbyqxmd.com/read/28749033/co-occurring-down-syndrome-and-sucla2-related-mitochondrial-depletion-syndrome
#1
Natario L Couser, Daniel S Marchuk, Laurie D Smith, Alexandra Arreola, Kathleen A Kaiser-Rogers, Joseph Muenzer, Arti Pandya, Muge Gucsavas-Calikoglu, Cynthia M Powell
Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is additionally affected with trisomy 21. SUCLA2 sequencing identified homozygous p.Arg284Cys pathogenic variants in both patients...
July 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28748111/dimerized-domain-v-of-beta2-glycoprotein-i-is-sufficient-to-upregulate-procoagulant-activity-in-pma-treated-u937-monocytes-and-require-intact-residues-in-two-phospholipid-binding-loops
#2
Alexey Kolyada, David A Barrios, Natalia Beglova
Upregulation of the procoagulant activity of monocytes by antibodies to beta2- glycoprotein I (β2GPI) is one of the mechanisms contributing to thrombosis in antiphospholipid syndrome. Current knowledge about receptors responsible for the upregulation of procoagulant activity by β2GPI/anti-β2GPI complexes and their binding sites on β2GPI is far from complete. We quantified the procoagulant activity expressed by phorbol 12-myristate 13-acetate (PMA)- differentiated U937 cells by measuring clotting kinetics in human plasma exposed to stimulated cells...
June 2017: Antibodies
https://www.readbyqxmd.com/read/28747993/adolescent-adaptive-behavior-profiles-in-williams-beuren-syndrome-down-syndrome-and-autism-spectrum-disorder
#3
Carolina Grego Del Cole, Sheila Cavalcante Caetano, Wagner Ribeiro, Arthur Melo E E Kümmer, Andrea Parolin Jackowski
BACKGROUND: Adaptive behavior can be impaired in different neurodevelopmental disorders and may be influenced by confounding factors, such as intelligence quotient (IQ) and socioeconomic classification. Our main objective was to verify whether adaptive behavior profiles differ in three conditions-Williams Beuren syndrome (WBS), Down syndrome (DS), and autism spectrum disorder (ASD), as compared with healthy controls (HC) and with each other. Although the literature points towards each disorder having a characteristic profile, no study has compared profiles to establish the specificity of each one...
2017: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/28745539/congenital-heart-disease-and-genetic-syndromes-new-insights-into-molecular-mechanisms
#4
Giulio Calcagni, Marta Unolt, Maria Cristina Digilio, Anwar Baban, Paolo Versacci, Marco Tartaglia, Antonio Baldini, Bruno Marino
Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Understanding the genetic background of syndromic CHDs allowed a better characterization of the genetic basis of non-syndromic CHDs...
July 26, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28743603/pre-and-post-natal-melatonin-administration-partially-regulates-brain-oxidative-stress-but-does-not-improve-cognitive-or-histological-alterations-in-the-ts65dn-mouse-model-of-down-syndrome
#5
Andrea Corrales, Eduardo B Parisotto, Verónica Vidal, Susana García-Cerro, Sara Lantigua, Marian Diego, Danilo Wilhem Filho, Emilio J Sanchez-Barceló, Carmen Martínez-Cué, Noemí Rueda
Melatonin administered during adulthood induces beneficial effects on cognition and neuroprotection in the Ts65Dn (TS) mouse model of Down syndrome. Here, we investigated the effects of pre- and post-natal melatonin treatment on behavioral and cognitive abnormalities and on several neuromorphological alterations (hypocellularity, neurogenesis impairment and increased oxidative stress) that appear during the early developmental stages in TS mice. Pregnant TS females were orally treated with melatonin or vehicle from the time of conception until the weaning of the offspring, and the pups continued to receive the treatment from weaning until the age of 5 months...
July 22, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28739378/succinate-dehydrogenase-sdh-deficiency-carney-triad-and-the-epigenome
#6
REVIEW
Nikolaos Settas, Fabio R Faucz, Constantine A Stratakis
In this report, we review the relationship between succinate dehydrogenase (SDH) deficiency and the epigenome, especially with regards to two clinical conditions. Carney triad (CT) is a very rare disease with synchronous or metachronous occurrence of at least three different tumor entities; gastric gastrointestinal stromal tumor (GIST), paraganglioma (PGL), and pulmonary chondroma. This condition affects mostly females and it is never inherited. Another disease that shares two of the tumor components of CT, namely GIST and PGL is the Carney-Stratakis syndrome (CSS) or dyad...
July 21, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28738720/association-of-sp-b-gene-9306-a-g-polymorphism-rs7316-and-risk-of-rds
#7
Neda Fatahi, Nikoo Niknafs, Majid Kalani, Hosein Dalili, Mamak Shariat, Elaheh Amini, Tahereh Esmaeilnia Shirvani, Amir Kamal Hardani, Roya Taheritafti, Nasrin Ghasemi-Fakhr, Mohsen Ghadami, Javad Tavakkoly-Bazzaz, Ramin Rashidi-Nezhad, Fatemeh Nayeri, Ali Rashidi-Nezhad
BACKGROUND: Respiratory distress syndrome (RDS) is a severe pulmonary disease predominantly affects preterm newborns. Polymorphisms of surfactant-protein genes have been mostly evaluated as the candidate contributors in genetics of RDS. However the results are divers in different studies. We aimed at investigating the association of surfactant protein B (SPB) gene 9306 A/G polymorphism (rs7316) with RDS development. METHOD: Three hundred eighty newborns with gestational age of less than 34 weeks were included in a multicenter case-control study...
July 24, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28737258/preclinical-alterations-in-myocardial-microstructure-in-people-with-metabolic-syndrome
#8
Jennifer E Ho, Youssef Rahban, Harpaul Sandhu, Pranoti G Hiremath, Nir Ayalon, Fuzhong Qin, Alejandro J Perez, Jill Downing, Deepa M Gopal, Susan Cheng, Wilson S Colucci
OBJECTIVE: Metabolic syndrome (MetS) can lead to myocardial fibrosis, diastolic dysfunction, and eventual heart failure. This study evaluated alterations in myocardial microstructure in people with MetS by using a novel algorithm to characterize ultrasonic signal intensity variation. METHODS: Among 254 participants without existing cardiovascular disease (mean age 42 ± 11 years, 75% women), there were 162 with MetS, 47 with obesity without MetS, and 45 nonobese controls...
July 24, 2017: Obesity
https://www.readbyqxmd.com/read/28737206/-nephro-urological-malformations-in-children-with-down-syndrome
#9
Felipe Cavagnaro
No abstract text is available yet for this article.
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28736088/fetopathological-examination-for-the-fetuses-with-down-syndrome-in-tunisia-epidemiological-study-and-associated-malformations
#10
Meriem Aloui, Kaouther Nasri, Nadia Ben Jemaa, Meriem Sahraoui, Aida Masmoudi, Dorra Zghal, Dalenda Chelli, Habiba Chaâbouni, Abdel Majid Ben Hamida, Soumeya Siala Gaigi, Raja Marrakchi
BACKGROUND: For Down syndrome (DS), traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. In Tunisia, the current work is the first in-depth study in epidemiology of DS from fetopathological data. AIM OF THE STUDY: The aim of this epidemiological study was to determine the impact of some feto-maternal characteristics in occurrence of DS and to search the frequency of associated congenital malformations with this syndrome...
May 8, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28735906/predicting-the-presence-of-sleep-disordered-breathing-in-children-with-down-syndrome
#11
Joy Nehme, Robert LaBerge, Mary Pothos, Nick Barrowman, Lynda Hoey, Andrea Monsour, Madelaine Kukko, Sherri Lynne Katz
OBJECTIVE: Sleep-disordered breathing (SDB) is highly prevalent in children with Down syndrome. Given the scarcity of resources and the presence of risk factors for SDB in this population, the objective of this study is to identify the clinical predictors of SDB, which would assist prioritization of children with Down syndrome for SDB evaluation. METHODS: A retrospective cohort study was conducted on children enrolled in the Down syndrome clinic at CHEO who underwent polysomnography in 2004-2014...
August 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28735747/a-requirement-for-mena-an-actin-regulator-in-local-mrna-translation-in-developing-neurons
#12
Marina Vidaki, Frauke Drees, Tanvi Saxena, Erwin Lanslots, Matthew J Taliaferro, Antonios Tatarakis, Christopher B Burge, Eric T Wang, Frank B Gertler
During neuronal development, local mRNA translation is required for axon guidance and synaptogenesis, and dysregulation of this process contributes to multiple neurodevelopmental and cognitive disorders. However, regulation of local protein synthesis in developing axons remains poorly understood. Here, we uncover a novel role for the actin-regulatory protein Mena in the formation of a ribonucleoprotein complex that involves the RNA-binding proteins HnrnpK and PCBP1 and regulates local translation of specific mRNAs in developing axons...
July 15, 2017: Neuron
https://www.readbyqxmd.com/read/28734155/activation-of-mtor-is-involved-in-anti-%C3%AE-2gpi-%C3%AE-2gpi-induced-expression-of-tissue-factor-and-il-8-in-monocytes
#13
Longfei Xia, Hong Zhou, Ting Wang, Yachao Xie, Ting Wang, Xiaoyan Wang, Jinchuan Yan
Previous study has demonstrated that activation of the mammalian target of rapamycin (mTOR) pathway in endothelial cells (ECs) results in the formation of chronic vascular lesions associated with antiphospholipid syndrome (APS). In addition, it has been shown that stimulation of monocytes and ECs by antiphospholipid antibodies (aPL) leads to a prothrombotic and proinflammatory state and up-regulated expression of tissue factor (TF) and inflammatory cytokines. However, the role of mTOR in pathogenic mechanisms of APS remains largely unexplored...
June 1, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28733957/a-review-of-biomarkers-for-alzheimer-s-disease-in-down-syndrome
#14
REVIEW
Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
Down syndrome (Trisomy 21; DS) is a unique disease known to be associated with early-onset Alzheimer's disease (AD). The initial presentation of AD in DS is usually difficult to recognize, owing to the underlying intellectual disabilities. Using biomarkers as a prediction tool for detecting AD in at-risk people with DS may benefit patient care. The objective of this review is to discuss the utility of biomarkers in DS on the basis of the pathophysiology of the disease and to provide an update on recent studies in this field...
July 2017: Neurology and Therapy
https://www.readbyqxmd.com/read/28733328/thermal-imprinting-modifies-bone-homeostasis-in-cold-challenged-sea-bream-sparus-aurata-l
#15
Ana Patrícia Mateus, Rita Costa, Enric Gisbert, Patricia I S Pinto, Karl B Andree, Alicia Estévez, Deborah M Power
Fish are ectotherms and temperature plays a determinant role in their physiology, biology and ecology and is a driver of seasonal responses. The present study assessed how thermal imprinting during embryonic and larval stages modified the response of adult fish to low water temperature. We targeted the gilthead sea bream that develops a condition known as winter syndrome when it is exposed to low water temperatures. Eggs and larvae of sea bream were exposed to four different thermal regimes and then the response of the resulting adults to a low temperature challenge was assessed...
July 21, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28730138/ileal-perforation-with-norovirus-gastroenteritis-in-a-3-month-old-infant
#16
Seol Woo Wi, Su Jin Lee, Eun Kyeong Kang, Sung Min Cho
Noroviruses have been recognized as the leading cause of epidemic and sporadic gastroenteritis since the advent of molecular diagnostic technique. They have been documented in 5-31% of pediatric patients hospitalized with gastroenteritis. Although norovirus gastroenteritis is typically mild and self-limited, it causes severe, but sometimes fatal, conditions in the vulnerable population such as immunocompromised patients, young children, and the elderly. Bowel perforation due to norovirus infection is rare. We report a case of small bowel perforation with norovirus gastroenteritis in the infant with Down syndrome during the hospitalization with pneumonia...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28728769/social-inclusion-of-children-with-down-syndrome-jewish-and-muslim-mothers-knowledge-attitudes-beliefs-and-behavioral-intentions
#17
Sivia Barnoy, Anna Biton, Michal Itzhaki
PURPOSE: The current study examined mothers' knowledge, beliefs, attitudes, and intention to socially integrate children with Down syndrome (DS) in the family, with children without disabilities and school system. DESIGN AND METHODS: A questionnaire based on a descriptive, cross-sectional design was administered to Jewish and Muslim mothers. The questionnaire included demographics, knowledge, beliefs, attitudes, and intention to integrate children with DS. Analysis included a regression test of intention to integrate children with DS and a one-way ANOVA for differences between Jewish and Muslim mothers...
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28728615/success-of-tonsillectomy-for-obstructive-sleep-apnea-in-children-with-down-syndrome
#18
David G Ingram, Amanda G Ruiz, Dexiang Gao, Norman R Friedman
STUDY OBJECTIVES: Obstructive sleep apnea (OSA) is common in children with Down syndrome (DS) and associated with significant morbidity. In the current study we examined polysomnographic outcomes of children with DS who underwent tonsillectomy. METHODS: A retrospective chart review of children with DS who underwent a tonsillectomy between 2009-2015 was performed. All children had either a concurrent adenoidectomy or had previously underwent an adenoidectomy. Children with preoperative and postoperative polysomnograms within 6 months of surgery were included in the analysis...
July 14, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28726593/validation-and-normalization-of-the-tower-of-london-drexel-university-test-2nd-edition-in-an-adult-population-with-intellectual-disability
#19
Javier García-Alba, Susanna Esteba-Castillo, Miguel Ángel Castellanos López, Emili Rodríguez Hidalgo, Nuria Ribas Vidal, Fernando Moldenhauer Díaz, Ramón Novell-Alsina
Despite how important it is to assess executive functioning in persons with Intellectual Disability (ID), instruments adapted and validated for this population are scarce. This study's primary goal was to find evidence for the validity of the ID version of the Tower of London (TOLDXtm) test in persons with mild (IDMi) and moderate (IDMo) levels of ID with Down Syndrome (DS). A multicenter study was carried out. Subjects (n = 63, ≥ 39 years old) had DS with mild (n = 39) or moderate ID (n = 24) with no minor neurocognitive disorder or Alzheimer's disease...
July 20, 2017: Spanish Journal of Psychology
https://www.readbyqxmd.com/read/28726285/a-cross-sectional-analysis-of-executive-function-in-down-syndrome-from-2-to-35%C3%A2-years
#20
S J Loveall, F A Conners, A S Tungate, L J Hahn, T D Osso
BACKGROUND: Previous research has indicated a unique profile of executive function (EF) in children and adolescents with Down syndrome (DS). However, there is a paucity of research on EF in adults with DS. This study aimed to gain a broader understanding of strengths and weaknesses in EF in DS from 2 to 35 years. METHOD: Parents of 112 individuals with DS between 2 and 35 years participated in this study. Parents either completed the Behaviour Rating Inventory of Executive Function - for individuals 6+ years - or the Behaviour Rating Inventory of Executive Function Preschool Version - for children 2-5 years...
July 20, 2017: Journal of Intellectual Disability Research: JIDR
keyword
keyword
34790
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"