37,573 results match your criteria Down Syndrome


Association of sleep with cognition and beta amyloid accumulation in adults with Down syndrome.

Neurobiol Aging 2020 Apr 29;93:44-51. Epub 2020 Apr 29.

Waisman Center, University of Wisconsin-Madison, Madison, WI, USA; Department of Human Development & Family Studies, University of Wisconsin-Madison, Madison, WI, USA. Electronic address:

Adults with Down syndrome have an increased risk for both disordered sleep and Alzheimer's disease (AD). In the general population, disrupted sleep has been linked to beta amyloid accumulation, an early pathophysiologic feature of AD. In this study, the association among sleep, beta amyloid, and measures of AD-related cognitive decline was examined in 47 non-demented adults with Down syndrome (aged 26-56 years). Read More

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http://dx.doi.org/10.1016/j.neurobiolaging.2020.04.018DOI Listing

FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome.

Invest Ophthalmol Vis Sci 2020 May;61(5):41

,.

Purpose: To identify the pathogenic gene of infantile nystagmus syndrome (INS) in three Chinese families and explore the potential pathogenic mechanism of FERM domain-containing 7 (FRMD7) mutations.

Methods: Genetic testing was performed via Sanger sequencing. Western blotting was used to analyze protein expression of FRMD7. Read More

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http://dx.doi.org/10.1167/iovs.61.5.41DOI Listing

Children with Down syndrome can benefit from language interventions; Results from a systematic review and meta-analysis.

J Commun Disord 2020 Apr 30;85:105992. Epub 2020 Apr 30.

University of Oslo, Norway.

Language disorder is a cardinal challenge for children with Down syndrome, and their learning capacity has been debated. The aim of the current study was to conduct a systematic review and meta-analysis of existing language interventions for children with Down syndrome to reveal knowledge about the effects of these interventions and identify any common characteristics specific to effective or ineffective interventions. A systematic search was conducted in databases relevant for education, speech and language therapy, and psychology. Read More

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http://dx.doi.org/10.1016/j.jcomdis.2020.105992DOI Listing

Dihydrofolate Reductase (DHFR) del19bp Polymorphism and Down Syndrome Offspring.

J Mol Neurosci 2020 May 22. Epub 2020 May 22.

Laboratório de Genética Humana, Departamento de Biologia Geral, Instituto de Biologia, Universidade Federal Fluminense, Campus do Valonguinho, CEP, Niterói, RJ, 24020-141, Brazil.

Down syndrome (DS) is the most common form of mental disability of genetic etiology. Nondisjunction of chromosome 21 is the leading cause of the syndrome. In general, free trisomy 21 cases originate from missegregation in maternal meiosis. Read More

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http://dx.doi.org/10.1007/s12031-020-01561-4DOI Listing

Are patients with Down syndrome vulnerable to life-threatening COVID-19?

Acta Neurol Belg 2020 May 22. Epub 2020 May 22.

Medical Educational Institution, MPI Oosterlo, Geel, Belgium.

Patients with Down syndrome are at increased risk of respiratory syncytial virus- and H1N1-related death. Literature on COVID-19 in Down syndrome patients is unavailable thus far. We describe the clinical course of 4 patients with Down syndrome during an outbreak of COVID-19. Read More

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http://dx.doi.org/10.1007/s13760-020-01373-8DOI Listing

Marfan syndrome revisited: From genetics to the clinic.

Rev Port Cardiol 2020 May 18. Epub 2020 May 18.

Centro Hospitalar de Lisboa Norte, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal.

Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for fibrillin-1, the main constituent of extracellular microfibrils. Studies on animal models of Marfan syndrome have revealed that fibrillin-1 mutations interfere with local TGF-β signaling, in addition to impairing tissue integrity. Read More

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http://dx.doi.org/10.1016/j.repc.2019.09.008DOI Listing

Genome-wide transcriptome analysis of the STAT6-regulated genes in advanced-stage cutaneous T-cell lymphoma.

Blood 2020 May 21. Epub 2020 May 21.

Unversity of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States.

The signal transducer and activator of transcription 6 (STAT-6) is a critical up-stream mediator of IL-13 and IL-4 signaling and is constitutively activated in malignant lymphocytes from Sezary syndrome (SS) and mycosis fungoides (MF), the most common subtypes of cutaneous T-cell lymphomas. By combining genome-wide expression profiling with pharmacological STAT-6 inhibition, we have identified the genes regulated by STAT-6 in MF/SS tumors. We found that STAT-6 regulates several common pathways in MF/SS malignant lymphocytes that are associated with control of cell cycle progression and genomic stability as well as production of Th2 cytokines. Read More

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http://dx.doi.org/10.1182/blood.2019004725DOI Listing

Proteomic profiles of prevalent mild cognitive impairment and Alzheimer's disease among adults with Down syndrome.

Alzheimers Dement (Amst) 2020 17;12(1):e12023. Epub 2020 Apr 17.

Institute for Translational Research Department of Pharmacology and Neuroscience University of North Texas Health Science Center Fort Worth Texas USA.

Introduction: We sought to determine if a proteomic profile approach developed to detect Alzheimer's disease (AD) in the general population would apply to adults with Down syndrome (DS).

Methods: Plasma samples were obtained from 398 members of a community-based cohort of adults with DS. A total of n = 186 participants were determined to be non-demented and without mild cognitive impairment (MCI) at baseline and throughout follow-up; n = 50 had prevalent MCI; n = 42 had prevalent AD. Read More

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http://dx.doi.org/10.1002/dad2.12023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7233426PMC

Amyloid accumulation in Down syndrome measured with amyloid load.

Alzheimers Dement (Amst) 2020 16;12(1):e12020. Epub 2020 Apr 16.

University of Wisconsin-Madison Waisman Center Madison Wisconsin.

Introduction: Individuals with Down syndrome (DS) show enhanced amyloid beta (Aβ) deposition in the brain. A new positron emission tomography (PET) index of amyloid load ( ) was recently developed as an alternative to standardized uptake value ratios (SUVrs) to quantify Aβ burden with high sensitivity for detecting and tracking Aβ change.. Read More

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http://dx.doi.org/10.1002/dad2.12020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7233422PMC

Down syndrome: Distribution of brain amyloid in mild cognitive impairment.

Alzheimers Dement (Amst) 2020 17;12(1):e12013. Epub 2020 Apr 17.

Department of Pediatrics University of California Irvine Medical Center Orange California.

Introduction: Down syndrome (DS) is associated with a higher risk of dementia. We hypothesize that amyloid beta (Aβ) in specific brain regions differentiates mild cognitive impairment in DS (MCI-DS) and test these hypotheses using cross-sectional and longitudinal data.

Methods: 18F-AV-45 (florbetapir) positron emission tomography (PET) data were collected to analyze amyloid burden in 58 participants clinically classified as cognitively stable (CS) or MCI-DS and 12 longitudinal CS participants. Read More

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http://dx.doi.org/10.1002/dad2.12013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7233421PMC

Functioning of Cognitive Memory Inhibition Processes in People with Down Syndrome: An Empirical Study.

Span J Psychol 2020 May 21;23:e7. Epub 2020 May 21.

Universidad Autónoma de Madrid (Spain).

Cognitive inhibition is part of executive functions. When it exercises control over memory processes, it has the function of regulating the accessibility of memories and allows interference to be resolved. The impairment of its functioning has been related to the presence of forgetfulness of relevant information. Read More

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http://dx.doi.org/10.1017/SJP.2020.4DOI Listing

Gain of chromosome 21 in hematological malignancies: lessons from studying leukemia in children with Down syndrome.

Leukemia 2020 May 20. Epub 2020 May 20.

INSERM U1170, Gustave Roussy Institute, Université Paris Saclay, Villejuif, France.

Structural and numerical alterations of chromosome 21 are extremely common in hematological malignancies. While the functional impact of chimeric transcripts from fused chromosome 21 genes such as TEL-AML1, AML1-ETO, or FUS-ERG have been extensively studied, the role of gain of chromosome 21 remains largely unknown. Gain of chromosome 21 is a frequently occurring aberration in several types of acute leukemia and can be found in up to 35% of cases. Read More

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http://dx.doi.org/10.1038/s41375-020-0854-5DOI Listing

Bone Marrow Mesenchymal Stem Cell-Derived Exosomes Attenuate LPS-Induced ARDS by Modulating Macrophage Polarization Through Inhibiting Glycolysis in Macrophages.

Shock 2020 May 18. Epub 2020 May 18.

Department of Anesthesiology, Shanghai Pulmonary Hospital, Tongji University School of Medicine, 507 Zhengmin Rd, Shanghai 200433, China.

Macrophages play a key role in the development of sepsis-induced acute respiratory distress syndrome (ARDS). Recent evidence has proved that glycolysis plays an important role in regulating macrophage polarization through metabolic reprogramming. Bone marrow mesenchymal stem cells (BMSCs) can alleviate sepsis-induced lung injury and possess potent immunomodulatory and immunosuppressive properties via secreting exosomes. Read More

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http://dx.doi.org/10.1097/SHK.0000000000001549DOI Listing

The sphingosine-1-phosphate/RhoA/Rho associated kinases/myosin light chain pathway in detrusor of female rats is down-regulated in response to ovariectomy.

Chin Med J (Engl) 2020 May;133(10):1203-1210

Peking University Fifth School of Clinical Medicine, Beijing 100730, China.

Background: Dysuria is one of the main symptoms of genitourinary syndrome of menopause, which causes serious disruption to the normal life of peri-menopausal women. Studies have shown that it is related to decrease of detrusor contractile function, but the exact mechanism is still poorly understood. Previous results have suggested that the sphingosine-1-phosphate (S1P) pathway can regulate detrusor contraction, and this pathway is affected by estrogen in various tissues. Read More

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http://dx.doi.org/10.1097/CM9.0000000000000767DOI Listing

Postintravenous immunoglobulin stroke in a toddler with Down syndrome: a diagnostic challenge.

BMJ Case Rep 2020 May 18;13(5). Epub 2020 May 18.

Department of Paediatrics, Penang General Hospital, Georgetown, Pulau Pinang, Malaysia.

Children with Down syndrome have a higher risk of stroke. Similarly, intravenous immunoglobulin (IV Ig) is also known to cause a stroke. We reported a 3-year-old boy with Down syndrome who presented with severe pneumonia and received IV Ig. Read More

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http://dx.doi.org/10.1136/bcr-2019-233149DOI Listing

The Role of Lipid Metabolism in COVID-19 Virus Infection and as a Drug Target.

Int J Mol Sci 2020 May 17;21(10). Epub 2020 May 17.

Department of Genetic and Bioinformatics, Dasman Diabetes Institute, 15462 Dasman, Kuwait.

The current Coronavirus disease 2019 or COVID-19 pandemic has infected over two million people and resulted in the death of over one hundred thousand people at the time of writing this review. The disease is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Even though multiple vaccines and treatments are under development so far, the disease is only slowing down under extreme social distancing measures that are difficult to maintain. Read More

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http://dx.doi.org/10.3390/ijms21103544DOI Listing

A rare case of spontaneous pneumothorax, pneumomediastinum and subcutaneous emphysema in the II stage of labour.

Int J Surg Case Rep 2020 May 7;70:130-132. Epub 2020 May 7.

Multidisciplinary Clinic Of The St. Nicholas, 53 Svyatoho Mykolaya str., 69063 Zaporizhzhya, Ukraine. Electronic address:

Background: Pneumomediastinum associated with pneumothorax and subcutaneous emphysema also known as Hamman's syndrome is a rare obstetric complication that usually happens during the second stage of labor. The causal mechanism of Hamman's syndrome is thought to be due to excessive intrathoracic pressure associated with Valsalva maneuver which leads to distal alveolar rupture. The released alveolar air from alveolar rupture dissects along the vascular sheets down a pressure gradient toward the pulmonary hila and into the mediastinum. Read More

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http://dx.doi.org/10.1016/j.ijscr.2020.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235925PMC

Impact of AAO-HNS Guideline on Obtaining Polysomnography Prior to Tonsillectomy for Pediatric Sleep-Disordered Breathing.

Otolaryngol Head Neck Surg 2020 May 19:194599820926456. Epub 2020 May 19.

Department of Otolaryngology/Head and Neck Surgery, Oregon Health and Science University, Portland, Oregon, USA.

Objective: To assess the impact of the 2011 American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) guideline on practice patterns in obtaining preadenotonsillectomy (AT) polysomnography (PSG) for pediatric sleep-disordered breathing (SDB).

Study Design: Retrospective cohort study.

Setting: Tertiary children's hospital. Read More

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http://dx.doi.org/10.1177/0194599820926456DOI Listing

Analysis of clinicopathological and cytogenetic differences between B-lymphoblastic lymphoma and B-lymphoblastic leukemia in childhood.

Leuk Lymphoma 2020 May 19:1-7. Epub 2020 May 19.

University of Colorado School of Medicine, Aurora, CO, USA.

Although considered the same disease by 2016 WHO Classification, B-ALL and B-LBL show different clinicobiologic behavior, with B-ALL manifesting as disseminated disease and B-LBL as a localized mass. Distinction between the two is based on an arbitrary cutoff of 25% bone marrow involvement. We reviewed clinical, immunophenotypic, and cytogenetic data in B-lymphoblastic neoplasms of childhood to explain the differences. Read More

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http://dx.doi.org/10.1080/10428194.2020.1761970DOI Listing

B-Cell Receptor-Associated Protein 31 Negatively Regulates the Expression of Monoamine Oxidase A R1.

Front Mol Biosci 2020 30;7:64. Epub 2020 Apr 30.

College of Life and Health Sciences, Northeastern University, Shenyang, China.

B-cell receptor-associated protein 31 (Bap31) is a three -membrane protein of the endoplasmic reticulum (ER). Patients who have loss of function of Bap31 suffered from X-linked syndrome, such as motor and intellectual disabilities, dystonia, and sensorineural deafness. However, the underlying mechanism of Bap31 on X-linked syndrome remains unclear. Read More

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http://dx.doi.org/10.3389/fmolb.2020.00064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212379PMC

Psychometric Properties and Predictive Value of a Screening Questionnaire for Obstructive Sleep Apnea in Young Children With Down Syndrome.

Front Psychiatry 2020 28;11:285. Epub 2020 Apr 28.

Laboratoire de Physiologie intégrée du système d'éveil CRNL- INSERM U1028-CNRS UMR 5292, Université Claude Bernard Lyon 1, Hospices Civils de Lyon, Lyon, France.

Study Objectives: Obstructive sleep apnea (OSA) is common in children with Down syndrome (DS) and is associated with adverse health and cognitive outcomes. Daytime clinical assessment is poorly predictive of OSA, so regular screening with sleep studies is recommended. However, sleep studies are costly and not available to all children worldwide. Read More

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http://dx.doi.org/10.3389/fpsyt.2020.00285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212346PMC

Use of malleoli as an indicator for flatfoot in patients with Down syndrome: development of a simple and non-invasive evaluation method through medial longitudinal arch.

J Phys Ther Sci 2020 May 1;32(5):315-318. Epub 2020 May 1.

Department of Rehabilitation Medicine, Ibaraki Prefectural University of Health Sciences, Japan.

[Purpose] Flatfoot often presents in patients with Down syndrome, and it can be diagnosed using a simple radiograph. Consequently, due to radiograph limitations, alternative non-invasive testing must be determined. Conventionally, arch height ratio can be used for evaluation of the medial longitudinal arch, where the foot is evaluated by detecting the navicular bone on the foot surface. Read More

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http://dx.doi.org/10.1589/jpts.32.315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192738PMC

Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects.

Hum Cell 2020 May 18. Epub 2020 May 18.

Oasi Research Institute-IRCCS, Troina, EN, Italy.

Trisomy 21 or Down syndrome (DS) is the most frequent genetic etiology of intellectual disability in humans. MDM2 gene expression has a potential role as a risk factor for human aneuploidy. -410T-G (rs2279744) functional polymorphism in MDM2 gene impacts on the mechanisms of chromosomal non-disjunction. Read More

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http://dx.doi.org/10.1007/s13577-020-00374-2DOI Listing

Rates, causes, place and predictors of mortality in adults with intellectual disabilities with and without Down syndrome: cohort study with record linkage.

BMJ Open 2020 May 17;10(5):e036465. Epub 2020 May 17.

Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.

Objectives: To investigate mortality in adults with intellectual disabilities: rates, causes, place, demographic and clinical predictors.

Design: Cohort study with record linkage to death data.

Setting: General community. Read More

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http://dx.doi.org/10.1136/bmjopen-2019-036465DOI Listing

COVID-19 and Individual Genetic Susceptibility/Receptivity: Role of ACE1/ACE2 Genes, Immunity, Inflammation and Coagulation. Might the Double X-chromosome in Females Be Protective against SARS-CoV-2 Compared to the Single X-Chromosome in Males?

Int J Mol Sci 2020 May 14;21(10). Epub 2020 May 14.

Department of Morphology, Surgery and Experimental Medicine and LTTA Centre, University of Ferrara, 44121 Ferrara, Italy.

In December 2019, a novel severe acute respiratory syndrome (SARS) from a new coronavirus (SARS-CoV-2) was recognized in the city of Wuhan, China. Rapidly, it became an epidemic in China and has now spread throughout the world reaching pandemic proportions. High mortality rates characterize SARS-CoV-2 disease (COVID-19), which mainly affects the elderly, causing unrestrained cytokines-storm and subsequent pulmonary shutdown, also suspected micro thromboembolism events. Read More

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http://dx.doi.org/10.3390/ijms21103474DOI Listing

Highly Conserved Homotrimer Cavity Formed by the SARS-CoV-2 Spike Glycoprotein: A Novel Binding Site.

J Clin Med 2020 May 14;9(5). Epub 2020 May 14.

International Centre for Cancer Vaccine Science, University of Gdansk, Wita Stwosza 63, 80-308 Gdansk, Poland.

An important stage in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) life cycle is the binding of the spike (S) protein to the angiotensin converting enzyme-2 (ACE2) host cell receptor. Therefore, to explore conserved features in spike protein dynamics and to identify potentially novel regions for drugging, we measured spike protein variability derived from 791 viral genomes and studied its properties by molecular dynamics (MD) simulation. The findings indicated that S2 subunit (heptad-repeat 1 (HR1), central helix (CH), and connector domain (CD) domains) showed low variability, low fluctuations in MD, and displayed a trimer cavity. Read More

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http://dx.doi.org/10.3390/jcm9051473DOI Listing

Caries experience in children and adolescents with Down Syndrome: A systematic review and meta-analysis.

Arch Oral Biol 2020 Apr 8;115:104715. Epub 2020 Apr 8.

School of Dentistry, University of Pernambuco, Camaragibe-PE, Brazil. Electronic address:

Aim: This study aimed to perform a systematic review and meta-analysis comparing the prevalence of dental caries in non-syndromic children with children and adolescents with Down syndrome (DS).

Methods: The strategy included a search for articles in electronic databases (MEDLINE via PubMed, Cochrane Library, LILACS, and SciELO). The methods for assessment included the modified Newcastle-Ottawa scale, the methodological quality for cross-sectional studies, and a random-effects meta-analysis model. Read More

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http://dx.doi.org/10.1016/j.archoralbio.2020.104715DOI Listing

Lungs as target of COVID-19 infection: Protective common molecular mechanisms of vitamin D and melatonin as a new potential synergistic treatment.

Life Sci 2020 May 15;254:117808. Epub 2020 May 15.

Pathology Department, Pharmacology Area Medical Sciences College, National University of Cuyo, Mendoza, CP5500, Argentina; National Scientific and Technical Research Council, Institute of Medical and Experimental Biology of Cuyo, Mendoza, Argentina. Electronic address:

COVID-19 pandemic has a high mortality rate and is affecting practically the entire world population. The leading cause of death is severe acute respiratory syndrome as a consequence of exacerbated inflammatory response accompanied by uncontrolled oxidative stress as well as the inflammatory reaction at the lung level. Until now, there is not a specific and definitive treatment for this pathology that worries the world population, especially the older adults who constitute the main risk group. Read More

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http://dx.doi.org/10.1016/j.lfs.2020.117808DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227533PMC

Heterogeneity of COVID-19 outbreak in Italy.

Acta Biomed 2020 04 20;91(2):31-34. Epub 2020 Apr 20.

Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.

An outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) started in December 2019 in China and was declared a pandemic on 11.03.2020 by WHO. Read More

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http://dx.doi.org/10.23750/abm.v91i2.9579DOI Listing

Parental Age in Relation to Offspring's Neurodevelopment.

J Clin Child Adolesc Psychol 2020 May 18:1-13. Epub 2020 May 18.

Department of Psychiatry, University of Groningen, University Medical Center Groningen.

Objective: Advanced parenthood increases the risk of severe neurodevelopmental disorders like autism, Down syndrome and schizophrenia. Does advanced parenthood also negatively impact offspring's general neurodevelopment?

Method: We analyzed child-, father-, mother- and teacher-rated attention-problems ( = 38,024), and standardized measures of intelligence ( = 10,273) and educational achievement ( = 17,522) of children from four Dutch population-based cohorts. The mean age over cohorts varied from 9. Read More

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http://dx.doi.org/10.1080/15374416.2020.1756298DOI Listing

Management of recurrent hip dislocation in Down Syndrome using modified Ganz periacetabular osteotomy: Follow up after 5 years.

Ann Med Surg (Lond) 2020 Jun 3;54:97-100. Epub 2020 May 3.

Department of Orthopaedics and Traumatology, Faculty of Medicine Universitas Indonesia, Dr. Cipto Mangunkusumo General National Hospital, Jl. Diponegoro No. 71, Jakarta Pusat, Indonesia.

Recurrent hip dislocation in a Down Syndrome patient with dysplastic hip is a very rare and challenging case to treat even for an expert orthopaedic hip surgeon. Least compliant patient and family, lowly educated with low socioeconomic status, young age and several anatomical variations forces limited option as a treatment. Several literatures mentioned Despite requiring only minimal implant, this technically demanding surgery requires a thorough understanding of the hip anatomy. Read More

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http://dx.doi.org/10.1016/j.amsu.2020.04.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218225PMC

Analysis of the Molecular Mechanism of Acute Coronary Syndrome Based on circRNA-miRNA Network Regulation.

Evid Based Complement Alternat Med 2020 29;2020:1584052. Epub 2020 Apr 29.

The First Hospital of Xinxiang Medical University, Xinxiang, Henan 453100, China.

Background: With the development of biological technology, biomarkers for the prevention and diagnosis of acute coronary syndrome (ACS) have become increasingly evident. However, the study of novel circular RNAs (circRNAs) in ACS is still in progress. This study aimed to investigate whether the regulation of circRNA-miRNA networks is involved in ACS pathogenesis. Read More

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http://dx.doi.org/10.1155/2020/1584052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206869PMC

Revised Triage and Surveillance Protocols for Temporary Emergency Department Closures in Tertiary Hospitals as a Response to COVID-19 Crisis in Daegu Metropolitan City.

J Korean Med Sci 2020 May 18;35(19):e189. Epub 2020 May 18.

Department of Emergency Medicine, Daegu Fatima Hospital, Daegu, Korea.

Background: When an emergency-care patient is diagnosed with an emerging infectious disease, hospitals in Korea may temporarily close their emergency departments (EDs) to prevent nosocomial transmission. Since February 2020, multiple, consecutive ED closures have occurred due to the coronavirus disease 2019 (COVID-19) crisis in Daegu. However, sudden ED closures are in contravention of laws for the provision of emergency medical care that enable the public to avail prompt, appropriate, and 24-hour emergency medical care. Read More

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http://dx.doi.org/10.3346/jkms.2020.35.e189DOI Listing

Cardiolipin deficiency elevates susceptibility to a lipotoxic hypertrophic cardiomyopathy.

J Mol Cell Cardiol 2020 May 11;144:24-34. Epub 2020 May 11.

Diabetes Research Envisioned and Accomplished in Manitoba (DREAM) Theme, Children's Hospital Research Institute of Manitoba, Department of Pharmacology & Therapeutics, Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada; Center for Research and Treatment of Atherosclerosis, University of Manitoba, Winnipeg, Canada. Electronic address:

Cardiolipin (CL) is a unique tetra-acyl phospholipid localized to the inner mitochondrial membrane and essential for normal respiratory function. It has been previously reported that the failing human heart and several rodent models of cardiac pathology have a selective loss of CL. A rare genetic disease, Barth syndrome (BTHS), is similarly characterized by a cardiomyopathy due to reduced levels of cardiolipin. Read More

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http://dx.doi.org/10.1016/j.yjmcc.2020.05.001DOI Listing

Vaccine Hesitancy and Low Immunization Rates in Children with Down Syndrome.

J Pediatr 2020 May 14. Epub 2020 May 14.

Considine Research Institute, Akron Children's Hospital, Akron, OH.

Objectives: To determine the prevalence of vaccine hesitancy and refusal among parents of children with Down syndrome and to determine how well the Parent Attitudes about Childhood Vaccines Survey (PACV) is associated with vaccine receipt among children with Down syndrome.

Study Design: We mailed the PACV to parents of children with Down syndrome who attend the Down Syndrome Clinic at Akron Children's Hospital and examined associations between PACV scores and immunization status at 19 months of age.

Results: Of 120 surveys sent, 63 parents completed the PACV (52% response rate) of which 60 were linked to vaccination records. Read More

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http://dx.doi.org/10.1016/j.jpeds.2020.03.025DOI Listing

Factors affecting the prevalence of overweight and obesity in children with Down syndrome.

Minerva Pediatr 2020 May 15. Epub 2020 May 15.

Department of Pediatric and Internal Nursing, Institute of Nursing and Midwifery, Faculty of Health Sciences with Institute of Maritime and Tropical Medicine, Medical University of Gdansk, Gdansk, Poland.

Background: The aim of this study was to determine the influence of environmental factors on the occurrence of overweight and obesity in children with Down syndrome.

Methods: The study was conducted in a group of children with Down syndrome under the care of the Genetic Clinic in Gdansk from May 2017 to December 2018.

Results: The study included 26 female patients and 22 male patients with Down syndrome, aged 7 to 18 years. Read More

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http://dx.doi.org/10.23736/S0026-4946.20.05694-7DOI Listing

Perinatal cytogenetic discrepancy in a fetus with low-level mosaicism for trisomy 21 and a favorable outcome.

Taiwan J Obstet Gynecol 2020 May;59(3):440-442

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: We present perinatal cytogenetic discrepancy in a fetus with low-level mosaicism for trisomy 21 and a favorable outcome.

Case Report: A 40-year-old woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+21[7]/46,XY[14]. Read More

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http://dx.doi.org/10.1016/j.tjog.2020.03.019DOI Listing

Quantitative Analysis of Retinal Structure and Function in Two Chromosomally Altered Mouse Models of Down Syndrome.

Invest Ophthalmol Vis Sci 2020 May;61(5):25

,.

Purpose: Ophthalmic disorders are among the most prevalent Down syndrome (DS) comorbidities. Therefore, when studying mouse models of DS, ignoring how vision is affected can lead to misinterpretation of results from assessments dependent on the integrity of the visual system. Here, we used imaging and electroretinography (ERG) to study eye structure and function in two important mouse models of DS: Ts65Dn and Dp(16)1Yey/+. Read More

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http://dx.doi.org/10.1167/iovs.61.5.25DOI Listing

Blood plasma miR-20a-5p expression as a potential non-invasive diagnostic biomarker of male infertility: a pilot study.

Andrology 2020 May 14. Epub 2020 May 14.

Department of Urology, Careggi Hospital, University of Florence, Largo Brambilla 3, 50134, Florence, Italy.

Background: Recently, alterations in miRNAs expression profile in semen have been linked to damaged spermatogenesis, suggesting miRNAs could be used as potential infertility biomarkers. In previous animal studies, miR-20a-5p was found to be down-expressed in low motile sperm, implying its potential target of genes associated with cell apoptosis.

Objective: To investigate miR-20a-5p expression in blood plasma of patients suffering from non-obstructive azoospermia (NOA), compared to normozoospermic controls. Read More

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http://dx.doi.org/10.1111/andr.12816DOI Listing

The effect of swimming program on body composition levels in adolescents with Down syndrome.

Res Dev Disabil 2020 May 8;102:103643. Epub 2020 May 8.

Department of Physical Education, Sport and Human Movement, Autonomous University of Madrid, Madrid, Spain. Electronic address:

Background: Down syndrome has been associated with more than 80 clinical characteristics such as diabetes, cardiovascular problems or obesity.

Aims: The current study determined the effect of a 36 weeks swimming program on different indicators of body composition in adolescents with Down syndrome.

Methods And Procedures Outcomes: 45 adolescents with Down syndrome were recruited and randomized to two groups (control group vs. Read More

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http://dx.doi.org/10.1016/j.ridd.2020.103643DOI Listing

Total glucosides of paeony (TGP) alleviates Sjogren's syndrome through inhibiting inflammatory responses in mice.

Phytomedicine 2020 Mar 6;71:153203. Epub 2020 Mar 6.

State Key Laboratory of Natural Medicines, School of Basic Medical Sciences and Clinical Pharmacy, China Pharmaceutical University, Nanjing 210009, PR China. Electronic address:

Background: Sjogren's syndrome (SS) is an inflammatory autoimmune disease whose etiology is complicated. Total glucosides of paeony (TGP) has a variety of pharmacological effects.

Purpose: To evaluate the therapeutic effects of TGP on SS in mice and anti-inflammatory mechanism. Read More

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http://dx.doi.org/10.1016/j.phymed.2020.153203DOI Listing
March 2020
3.126 Impact Factor

Successful treatment of acute B lymphoblastic leukemia relapse in the skin and testicle by anti-CD19 CAR-T with IL-6 knocking down: a case report.

Biomark Res 2020 6;8:12. Epub 2020 May 6.

2Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Shizi street 188, Suzhou, 215006 China.

Background: Extramedullary relapse is an important cause of treatment failure among patients with acute lymphoblastic leukemia (ALL). This type of relapse is commonly observed in the central nervous system, while it is rare in the testicles and skin. Chimeric antigen receptor-modified T cell (CAR-T) therapy targeting CD19 has shown to be a beneficial treatment approach for relapsed/refractory B cell acute lymphoblasticleukemia (r/r B-ALL). Read More

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http://dx.doi.org/10.1186/s40364-020-00193-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204010PMC

Neuropsychological Changes in Complex Regional Pain Syndrome (CRPS).

Behav Neurol 2020 14;2020:4561831. Epub 2020 Jan 14.

Centre for Pain Research, University of Bath, Claverton Down Road, Bath BA2 7AY, UK.

Complex Regional Pain Syndrome (CRPS) is a poorly understood chronic pain condition of multifactorial origin. CRPS involves sensory, motor, and autonomic symptoms primarily affecting one extremity. Patients can also present with neuropsychological changes such as reduced attention to the CRPS-affected extremity, reminiscent of hemispatial neglect, yet in the absence of any brain lesions. Read More

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http://dx.doi.org/10.1155/2020/4561831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201816PMC
January 2020

Glucose-Regulated Protein 78 Interacts with Zika Virus Envelope Protein and Contributes to a Productive Infection.

Viruses 2020 May 9;12(5). Epub 2020 May 9.

MRC-University of Glasgow Centre for Virus Research, Glasgow G61 1QH, UK.

Zika virus (ZIKV; Flaviviridae) is a mosquito-borne flavivirus shown to cause fetal abnormalities collectively known as congenital Zika syndrome and Guillain-Barré syndrome in recent outbreaks. Currently, there is no specific treatment or vaccine available, and more effort is needed to identify cellular factors in the viral life cycle. Here, we investigated interactors of ZIKV envelope (E) protein by combining protein pull-down with mass spectrometry. Read More

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http://dx.doi.org/10.3390/v12050524DOI Listing
May 2020
3.279 Impact Factor

Obesity and Age-Related Changes in the Brain of the Zucker Rats.

Nutrients 2020 May 9;12(5). Epub 2020 May 9.

School of Pharmacy, University of Camerino, Via Madonna delle Carceri, 9, 62032 Camerino, Italy.

Metabolic syndrome (MetS) is an association between obesity, dyslipidemia, hyperglycemia, hypertension, and insulin resistance. A relationship between MetS and vascular dementia was hypothesized. The purpose of this work is to investigate brain microanatomy alterations in obese Zucker rats (OZRs), as a model of MetS, compared to their counterparts lean Zucker rats (LZRs). Read More

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http://dx.doi.org/10.3390/nu12051356DOI Listing

Glycaemic Control Among People with Type 1 Diabetes During Lockdown for the SARS-CoV-2 Outbreak in Italy.

Diabetes Ther 2020 May 11:1-11. Epub 2020 May 11.

Department of Medicine, Unit of Metabolic Disease, University of Padova, 35128 Padova, Italy.

Introduction: In late February 2020, due to the spread of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), the Italian Government closed down all educational and sport activities. In March, it introduced further measures to stop the spread of coronavirus disease (COVID-19), placing the country in a state of almost complete lockdown. We report the impact of these restrictions on glucose control among people with type 1 diabetes (T1D). Read More

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http://dx.doi.org/10.1007/s13300-020-00829-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213551PMC

Using fMRI to Assess Brain Activity in People With Down Syndrome: A Systematic Review.

Front Hum Neurosci 2020 27;14:147. Epub 2020 Apr 27.

Institute of Neuroscience, University of Barcelona, Barcelona, Spain.

In the last few years, many investigations have focused on brain activity in general and in populations with different pathologies using non-invasive techniques such as electroencefalography (EEG), positron emission tomography (PET), functional magnetic resonance imaging (fMRI) and magnetic resonance imaging (MRI). However, the use of non-invasive techniques to detect brain signals to evaluate the cognitive activity of people with Down syndrome (DS) has not been sufficiently addressed. The objective of this study is to describe the state-of-the-art in fMRI techniques for recording brain signals in people with DS. Read More

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http://dx.doi.org/10.3389/fnhum.2020.00147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197628PMC

[Down Syndrome: Perception of Mothers and Fathers About Parenting a Child with Intellectual Disability].

Authors:
Klaus Sarimski

Prax Kinderpsychol Kinderpsychiatr 2020 May;69(3):236-251

Institut für Sonderpädagogik Pädagogische Hochschule Heidelberg Keplerstr. 87 69120 Heidelberg Deutschland Institut für Sonderpädagogik.

Parents of children with intellectual disabilities report increased stress levels as well as experiences of personal growth and a positive impact on family relationship. 30 mothers and fathers of children with Down syndrome in school age complete questionnaires on the family impact of childhood disability, parental stress and child behavioral symptoms. Mothers as well as fathers report more positive than negative perceptions of the impact on the family. Read More

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http://dx.doi.org/10.13109/prkk.2020.69.3.236DOI Listing

Bite Force and Occlusal Patterns in the Mixed Dentition of Children with Down Syndrome.

J Prosthodont 2020 May 11. Epub 2020 May 11.

General Directorate of Dentistry, Ministry of Health, Riyadh, Saudi Arabia.

Purpose: Oral function in Down Syndrome (DS) patients has been of interest to clinicians and researchers. This study aimed to evaluate the parameters of occlusal force and pattern of children with Down syndrome (DS) during mixed dentition when compared to age and gender-matched controls.

Materials And Methods: Thirty DS and 30 healthy children, aged 7 to 12 years, participated in the evaluation of the parameters of the occlusal pattern and occlusal force distribution analysis. Read More

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http://dx.doi.org/10.1111/jopr.13186DOI Listing

Prefrontal-hippocampal functional connectivity encodes recognition memory and is impaired in intellectual disability.

Proc Natl Acad Sci U S A 2020 May 11. Epub 2020 May 11.

Integrative Pharmacology and Systems Neuroscience, Hospital del Mar Medical Research Institute, Barcelona Biomedical Research Park, 08003 Barcelona, Spain;

Down syndrome (DS) is the most common form of intellectual disability. The cognitive alterations in DS are thought to depend on brain regions critical for learning and memory such as the prefrontal cortex (PFC) and the hippocampus (HPC). Neuroimaging studies suggest that increased brain connectivity correlates with lower intelligence quotients (IQ) in individuals with DS; however, its contribution to cognitive impairment is unresolved. Read More

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http://dx.doi.org/10.1073/pnas.1921314117DOI Listing