39,529 results match your criteria Down Syndrome


Risk Factors Associated With COVID-19 Outcomes Among People With Intellectual and Developmental Disabilities Receiving Residential Services.

JAMA Netw Open 2021 06 1;4(6):e2112862. Epub 2021 Jun 1.

AHRC New York City, New York, New York.

Importance: Although there is evidence of more severe COVID-19 outcomes, there is no information describing the risk factors for COVID-19 diagnosis and/or mortality among people with intellectual and developmental disabilities (IDD) receiving residential support services in the US.

Objective: To identify associations between demographic characteristics, residential characteristics, and/or preexisting health conditions and COVID-19 diagnosis and mortality for people with IDD receiving residential support services.

Design, Setting, And Participants: This cohort study tracked COVID-19 outcomes for 543 individuals with IDD. Read More

View Article and Full-Text PDF

Intracellular artificial supramolecules based on de novo designed Y15 peptides.

Nat Commun 2021 06 7;12(1):3412. Epub 2021 Jun 7.

School of Life Science and Technology, Tokyo Institute of Technology, Yokohama, Kanagawa, Japan.

De novo designed self-assembling peptides (SAPs) are promising building blocks of supramolecular biomaterials, which can fulfill a wide range of applications, such as scaffolds for tissue culture, three-dimensional cell culture, and vaccine adjuvants. Nevertheless, the use of SAPs in intracellular spaces has mostly been unexplored. Here, we report a self-assembling peptide, Y15 (YEYKYEYKYEYKYEY), which readily forms β-sheet structures to facilitate bottom-up synthesis of functional protein assemblies in living cells. Read More

View Article and Full-Text PDF

A multicentre validation study of the diagnostic value of plasma neurofilament light.

Nat Commun 2021 06 7;12(1):3400. Epub 2021 Jun 7.

Translational Neuroimaging Laboratory, The McGill University Research Centre for Studies in Aging, Montreal, QC, Canada.

Increased cerebrospinal fluid neurofilament light (NfL) is a recognized biomarker for neurodegeneration that can also be assessed in blood. Here, we investigate plasma NfL as a marker of neurodegeneration in 13 neurodegenerative disorders, Down syndrome, depression and cognitively unimpaired controls from two multicenter cohorts: King's College London (n = 805) and the Swedish BioFINDER study (n = 1,464). Plasma NfL was significantly increased in all cortical neurodegenerative disorders, amyotrophic lateral sclerosis and atypical parkinsonian disorders. Read More

View Article and Full-Text PDF

Linum usitatissimum seeds oil down-regulates mRNA expression for the steroidogenic acute regulatory protein and Cyp11A1 genes, ameliorating letrezole-induced polycystic ovarian syndrome in a rat model.

J Physiol Pharmacol 2021 Feb 3;72(1). Epub 2021 Jun 3.

Department of Physiology, Faculty of Veterinary Medicine, Cairo University, Giza, Egypt.

The safety and effectiveness of nutricetics suggest that they may offer an alternative to pharmaceutical and surgical therapy for hormone-dependent disorders, such as polycystic ovarian syndrome (PCOS). We investigated the effects of Linum usitatissimum seed oil (LSO) on ovarian functionality, its molecular targets, and the oxidative response in hyperandrogenism-induced polycystic ovary. The composition of LSO has been analyzed using ultra-performance liquid chromatography-electrospray ionization-tandem mass spectrometry (UPLC-ESI-MS). Read More

View Article and Full-Text PDF
February 2021

A human antibody of potent efficacy against SARS-CoV-2 in rhesus macaques showed strong blocking activity to B.1.351.

MAbs 2021 Jan-Dec;13(1):1930636

Shanghai Jemincare Pharmaceuticals Co., Ltd., Shanghai, People's Republic of China.

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), which causes coronavirus disease-2019 (COVID-19), interacts with the host cell receptor angiotensin-converting enzyme 2 (hACE2) via its spike 1 protein during infection. After the virus sequence was published, we identified two potent antibodies against the SARS-CoV-2 receptor binding domain (RBD) from antibody libraries using a phage-to-yeast (PtY) display platform in only 10 days. Our lead antibody JMB2002, now in a Phase 1 clinical trial (ChiCTR2100042150), showed broad-spectrum blocking activity against hACE2 binding to the RBD of multiple SARS-CoV-2 variants, including B. Read More

View Article and Full-Text PDF

[Genome-wide analysis of aberrant DNA methylation patterns in iPSCs derived from patients with Down syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Jun;38(6):531-535

Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200040, China.

Objective: To study the correlation between DNA methylation patterns and gene expression in Down syndrome (DS).

Methods: Induced pluripotent stem cells (iPSCs) derived from normal controls and DS patients were subjected to whole genome bisulfite sequencing and differentially methylated region (DMR) screening. Statistical analysis for chromosomal and gene element distribution were carried out for DMR. Read More

View Article and Full-Text PDF

Longitudinal assessment of cardiac function in infants with Down's syndrome using novel echocardiography techniques - project protocol.

HRB Open Res 2020 21;3:77. Epub 2020 Oct 21.

Department of Neonatology, The Rotunda Hospital, Dublin, Dublin, D01P5W9, Ireland.

Down's syndrome (DS) is the most common chromosomal abnormality globally. Ireland has one of the highest rates of DS in the western world with an incidence of 1:444 live births. Congenital heart disease (CHD) and pulmonary hypertension (PH) are the commonest morbidities affecting the cardiovascular system in DS. Read More

View Article and Full-Text PDF
October 2020

Development of Inappropriate Vasopressin Secretion in Association With Lumbar Cerebrospinal Fluid Drainage in an Adult With Traumatic Basilar Skull Fracture.

Authors:
Jane Rhyu Run Yu

AACE Clin Case Rep 2021 Mar-Apr;7(2):124-126. Epub 2020 Dec 28.

University of California Los Angeles (UCLA), Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, Los Angeles, California.

Objective: Hyponatremia associated with cerebrospinal fluid (CSF) drainage is primarily limited to pediatric patients. Only 1 case in an adult, after pituitary surgery, has been described. We present the first adult case, to our knowledge, of lumbar CSF drainage associated with the syndrome of inappropriate antidiuretic hormone (SIADH) in a patient with a traumatic basilar skull fracture. Read More

View Article and Full-Text PDF
December 2020

Elevated soluble amyloid beta protofibrils in Down syndrome and Alzheimer's disease.

Mol Cell Neurosci 2021 Jun 4;114:103641. Epub 2021 Jun 4.

BioArctic AB, Warfvinges väg 35, SE-112 51 Stockholm, Sweden; Dept. of Public Health/Geriatrics, Uppsala University, SE-751 22 Uppsala, Sweden.

Down syndrome (DS) is caused by trisomy of chromosome 21, which leads to a propensity to develop amyloid β (Aβ) brain pathology in early adulthood followed later by cognitive and behavioral deterioration. Characterization of the Aβ pathology is important to better understand the clinical deterioration of DS individuals and to identify interventive strategies. Brain samples from people with DS and Alzheimer's disease (AD), as well as non-demented controls (NDC), were analyzed with respect to different Aβ species. Read More

View Article and Full-Text PDF

Effects of Salvianolic acid B on RNA expression and co-expression network of lncRNAs in brown adipose tissue of obese mice.

J Ethnopharmacol 2021 Jun 3:114289. Epub 2021 Jun 3.

Traditional Chinese Medicine School, Beijing University of Chinese Medicine, Beijing, China. Electronic address:

Ethnopharmacological Relevance: Salvianolic acid B (SalB) is a polyphenolic compound in Salvia miltiorrhiza Bunge ("Danshen"), which has been largely used in Traditional Chinese Medicine for the treatment of metabolic syndrome, obesity, diabetes, among others.

Aim Of Study: This study was to investigate the effects of Salvianolic acid B (SalB) on mRNA, lncRNA and circRNA's expression profile in brown adipose tissue (BAT) of obese mice.

Materials And Methods: High-fat-diet induced obese C57BL/6J mice were treated with SalB (100 mg/kg/day) for 8 weeks. Read More

View Article and Full-Text PDF

A novel inhibitor rescues cerebellar defects in a zebrafish model of Down Syndrome-associated kinase Dyrk1A overexpression.

J Biol Chem 2021 Jun 3:100853. Epub 2021 Jun 3.

Cellular and Molecular Neurobiology, Zoological Institute, Spielmannstraße 7, Technische Universität Braunschweig, 38106 Braunschweig Germany. Electronic address:

The highly conserved dual specificity tyrosine phosphorylation regulated kinase 1A (Dyrk1A) plays crucial roles during central nervous system development and homeostasis. Furthermore, its hyperactivity is considered responsible for some neurological defects in individuals with Down Syndrome (DS). We set out to establish a zebrafish model expressing human Dyrk1A that could be further used to characterize the interaction between Dyrk1A and neurological phenotypes. Read More

View Article and Full-Text PDF

Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome.

J Clin Immunol 2021 Jun 5. Epub 2021 Jun 5.

Center for Inborn Errors of Immunity, Icahn School of Medicine At Mount Sinai, New York, NY, USA.

While adults with Down syndrome (DS) are at increased risk of severe COVID-19 pneumonia, little is known about COVID-19 in children with DS. In children without DS, SARS-CoV-2 can rarely cause severe COVID-19 pneumonia, or an even rarer and more typically pediatric condition, multisystem inflammatory syndrome in children (MIS-C). Although the underlying mechanisms are still unknown, MIS-C is thought to be primarily immune-mediated. Read More

View Article and Full-Text PDF

Evaluation of a prenatal screening decision aid: A mixed methods pilot study.

Patient Educ Couns 2021 May 18. Epub 2021 May 18.

Canada Research Chair in Shared Decision Making and Knowledge Translation, Laval University, Quebec, QC, Canada; Centre de recherche en santé durable (VITAM), Quebec, QC, Canada; Centre intégré universitaire de santé et services sociaux de la Capitale-Nationale (CIUSSS-CN), Quebec, QC, Canada; Department of Family Medicine and Emergency Medicine, Faculty of Medicine, Université Laval, Quebec, QC, Canada. Electronic address:

Background: We developed a decision aid (DA) to help pregnant women and their partners make informed decisions about prenatal screening for trisomy. We aimed to determine its usefulness for preparing for decision-making and its acceptability among end-users.

Methods: In this mixed-methods pilot study, we recruited participants in three prenatal care settings in Quebec City. Read More

View Article and Full-Text PDF

Macular hole with inner limiting membrane peeling off spontaneously in Terson syndrome: A case report.

Medicine (Baltimore) 2021 Jun;100(22):e25960

Eye Center of the second hospital, Jilin University, ChangChun, Jilin Province, China.

Introduction: Terson's syndrome with inner limiting membrane (ILM) peeled off spontaneously is rarely seen, and the mechanism of it is not clear. Here we report a case of Terson Syndrome with a rare finding: the ILM peeled off spontaneously associated with macular hole (MH).

Patient Concerns: A 36-year-old female patient was admitted to our hospital with decreased visual acuity in the right eye lasting for 1 month. Read More

View Article and Full-Text PDF

Clinical characteristics of 50 children with azygos lobe: a retrospective study.

Eur J Pediatr 2021 Jun 4. Epub 2021 Jun 4.

Division of Pediatric Pulmonology and Immunology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.

An azygos lobe is a rare anatomic variant of the lung which may be misdiagnosed as other pathological conditions. There is a dearth of information on the clinical characteristics of children with azygos lobe. This study aims to summarize the clinical features of children with azygos lobe, which may be helpful to improve recognition and clinical care of those patients. Read More

View Article and Full-Text PDF

Metalloproteinases and Their Inhibitors Are Associated with Pulmonary Arterial Stiffness and Ventricular Function in Pediatric Pulmonary Hypertension.

Am J Physiol Heart Circ Physiol 2021 Jun 4. Epub 2021 Jun 4.

Linda Crnic Institute for Down Syndrome, grid.241116.1University of Colorado Denver, Aurora, CO.

Disturbed balance between matrix metalloproteinases (MMPs) and their respective tissue inhibitors (TIMPs) is a well-recognized pathophysiologic component of pulmonary arterial hypertension (PAH). Both classes of proteases have been associated with clinical outcomes as well as with specific pathologic features of ventricular dysfunction and pulmonary arterial remodeling. The purpose of this study was to evaluate the circulating levels of MMPs and TIMPs in children with PAH undergoing the same day cardiac MRI and right heart catheterization. Read More

View Article and Full-Text PDF

Parenting an adolescent with complex regional pain syndrome: A dyadic qualitative investigation of resilience.

Br J Health Psychol 2021 Jun 4. Epub 2021 Jun 4.

Department of Psychology and Centre for Pain Research, Claverton Down, University of Bath, Bath, UK.

Objectives: Adolescent chronic pain exists within a social context, affecting the lives of adolescents, parents, peers, and wider family members. Typically, parental research has focussed on the negative impact on parents associated with parenting an adolescent with chronic pain. However, a small number of studies have identified positive parental outcomes and functioning, with a focus on parental resilience. Read More

View Article and Full-Text PDF

Orofacial clefts embryology, classification, epidemiology, and genetics.

Mutat Res 2021 Jan-Jun;787:108373. Epub 2021 Feb 28.

Department of Natural Sciences, School of Arts and Sciences, Lebanese American University, P.O. Box: 13-5053, Chouran, 1102 2801, Beirut, Lebanon. Electronic address:

Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the United States after Down syndrome and are the most common head and neck congenital malformations. They are classified as cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). OFCs have significant psychological and socio-economic impact on patients and their families and require a multidisciplinary approach for management and counseling. Read More

View Article and Full-Text PDF
February 2021

Should isolated aberrant right subclavian artery be ignored in the antenatal period? A management dilemma

Turk J Obstet Gynecol 2021 06;18(2):103-108

Biruni University Faculty of Medicine, Department of Perinatology, İstanbul, Turkey

Objective: To investigate the frequency and types of chromosomal abnormalities in fetuses with the aberrant right subclavian artery (ARSA) and to evaluate its association with other ultrasonographic findings.

Materials And Methods: In all, 11,666 fetal anatomic surveys were performed between March 2014 and March 2020. The cases diagnosed as ARSA were examined. Read More

View Article and Full-Text PDF

Assessing Health-Related Quality of Life, Morbidity, and Survival Status for Individuals With Down Syndrome in Pakistan (DS-Pak): Protocol for a Web-Based Collaborative Registry.

JMIR Res Protoc 2021 Jun 3;10(6):e24901. Epub 2021 Jun 3.

Department of Pediatrics, Aga Khan University Hospital, Karachi, Pakistan.

Background: Down syndrome is the most common chromosomal disorder, with a global incidence of 1 in 700 live births. However, the true prevalence, associated morbidities, and health-related quality of life (HRQOL) of these individuals and their families are not well documented, especially in low- and middle-income countries such as Pakistan. Disease-specific documentation in the form of a collaborative registry is required to better understand this condition and the associated health outcomes. Read More

View Article and Full-Text PDF

Copy Number Variations Analysis Identifies QPRT as a Candidate Gene Associated With Susceptibility for Solitary Functioning Kidney.

Front Genet 2021 17;12:575830. Epub 2021 May 17.

Department of Neurosurgery, The Affiliated Huai'an No. 1 People's Hospital of Nanjing Medical University, Huai'an, China.

Background: The lack of understanding of molecular pathologies of the solitary functioning kidney makes improving and strengthening the continuity of care between pediatric and adult nephrological patients difficult. Copy number variations (CNVs) account for a molecular cause of solitary functioning kidney, but characterization of the pathogenic genes remains challenging.

Methods: In our prospective cohort study, 99 fetuses clinically diagnosed with a solitary functioning kidney were enrolled and evaluated using chromosomal microarray analysis (CMA). Read More

View Article and Full-Text PDF

RBM39 Alters Phosphorylation of c-Jun and Binds to Viral RNA to Promote PRRSV Proliferation.

Front Immunol 2021 17;12:664417. Epub 2021 May 17.

School of Life Sciences, Tianjin University, Tianjin, China.

As transcriptional co-activator of AP-1/Jun, estrogen receptors and NF-κB, nuclear protein RBM39 also involves precursor mRNA (pre-mRNA) splicing. Porcine reproductive and respiratory syndrome virus (PRRSV) causes sow reproductive disorders and piglet respiratory diseases, which resulted in serious economic losses worldwide. In this study, the up-regulated expression of RBM39 and down-regulated of inflammatory cytokines (IFN-β, TNFα, NF-κB, IL-1β, IL-6) were determined in PRRSV-infected 3D4/21 cells, and accompanied with the PRRSV proliferation. Read More

View Article and Full-Text PDF

Syk-Targeted, a New 3-Arylbenzofuran Derivative EAPP-2 Blocks Airway Inflammation of Asthma-COPD Overlap in vivo and in vitro.

J Inflamm Res 2021 24;14:2173-2185. Epub 2021 May 24.

Institute of Materia Medica, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, People's Republic of China.

Introduction: Asthma-chronic obstructive pulmonary (COPD) overlap (ACO) coexists with asthma and COPD syndrome characteristics, with more frequent exacerbations, heavier disease burden, higher medical utilization, and even lower quality of life. However, the ACO standard medications supported by evidence-based medicine have not yet appeared.

Methods: By using an ACO mouse model established previously and LPS-stimulated RAW264. Read More

View Article and Full-Text PDF

Fatal Outcomes from COVID-19 in Diabetes Patients and its Management: Impact of Diabetes and Other Comorbidities on COVID-19.

Curr Diabetes Rev 2021 Jun 1. Epub 2021 Jun 1.

School of Pharmacy, Tejinder Kaur, Glocal University, Delhi-Yamunotri marg, Saharanpur, India.

Many studies have approved that COVID-19 disease was caused by Middle East respiratory syndrome coronavirus (MERS-CoV), severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), severe acute respiratory syndrome coronavirus-1(SARS-CoV-1), and has spread as an epidemic from across the world today. Initially, it affects the upper respiratory tract, induces viral infection in the lungs, and causes severe pneumonia in the COVID-19 infected patients. After the infection in the body, changes appear in other biomarkers in the body therby imbalancing the body response studied by the virus's pathophysiology. Read More

View Article and Full-Text PDF

Virtual Interprofessional Learning Due to COVID-19.

J Nurs Educ 2021 Jun 1;60(6):346-351. Epub 2021 Jun 1.

Background: The COVID-19 pandemic necessitated sweeping changes in a neonatal nurse practitioner (NNP) program's approach to distance-accessible learning. Prioritizing student learning and safety, we developed a new alternative model for individualized simulation.

Method: The scenario created for a student to deliver an unexpected diagnosis of trisomy 21, or Down syndrome, to a postpartum mother was redesigned to take place using web-conference technology. Read More

View Article and Full-Text PDF

Physical activity among children with down syndrome: maternal perception.

Int J Qual Stud Health Well-being 2021 Dec;16(1):1932701

Faculty of Nursing, Umm AlQura University, Al-Qura, Saudi Arabia.

: Studies have shown that children with Down syndrome (DS) are at high risk for physical inactivity and obesity. This study aimed to explore mother's perceptions of the physical activity levels, needs, benefits, facilitators, and barriers in their children with DS.: For this descriptive qualitative study, 17 participants were recruited through centres for children with DS in the Kingdom of Saudi Arabia. Read More

View Article and Full-Text PDF
December 2021

External cranial expansion as treatment of intracranial hypertension. Technical note.

Neurosurg Rev 2021 Jun 1. Epub 2021 Jun 1.

Department of Neurological Surgery, Regional University Hospital, Malaga, Spain.

Intracranial hypertension may be idiopathic or due to multiple etiologies. Some bone dysplasias and chronic shunt overdrainage syndrome may sometimes lead to intracranial hypertension associated with craniocerebral disproportion due to thickening of cranial diploe. The internal cranial expansion procedure has been used for patients with intracranial hypertension, whether or not associated with craniocerebral disproportion. Read More

View Article and Full-Text PDF

Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview.

Molecules 2021 May 24;26(11). Epub 2021 May 24.

Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, 50139 Florence, Italy.

Oxidative stress is the result of an imbalance in the redox state in a cell or a tissue. When the production of free radicals, which are physiologically essential for signaling, exceeds the antioxidant capability, pathological outcomes including oxidative damage to macromolecules, aberrant signaling, and inflammation can occur. Down syndrome (DS) and Williams-Beuren syndrome (WBS) are well-known and common genetic conditions with multi-systemic involvement. Read More

View Article and Full-Text PDF

Single Ventricle-A Comprehensive Review.

Children (Basel) 2021 May 24;8(6). Epub 2021 May 24.

McGovern Medical School, University of Texas-Houston, Children's Memorial Hermann Hospital, 6410 Fannin Street, UTPB Suite # 425, Houston, TX 77030, USA.

In this paper, the author enumerates cardiac defects with a functionally single ventricle, summarizes single ventricle physiology, presents a summary of management strategies to address the single ventricle defects, goes over the steps of staged total cavo-pulmonary connection, cites the prevalence of inter-stage mortality, names the causes of inter-stage mortality, discusses strategies to address the inter-stage mortality, reviews post-Fontan issues, and introduces alternative approaches to Fontan circulation. Read More

View Article and Full-Text PDF

The Association between Difficulties with Speech Fluency and Language Skills in a National Age Cohort of Children with Down Syndrome.

Brain Sci 2021 May 26;11(6). Epub 2021 May 26.

Communicative Sciences and Disorders, Michigan State University, East Lansing, MI 48824, USA.

The present study (a) addressed difficulties in speech fluency in children with Down syndrome and typically developing children at a similar non-verbal level and (b) examined the association between difficulties with speech fluency and language skills in children with Down syndrome. Data from a cross-sectional parent survey that included questions about children's difficulties with speech fluency, as well as clinical tests from a national age cohort of 43 six-year-olds with Down syndrome and 57 young typically developing children, were collected. Fisher's exact test, Student's -test, linear regression, and density ellipse scatter plots were used for analysis. Read More

View Article and Full-Text PDF