35,697 results match your criteria Down Syndrome


Varicella Zoster Virus Induces Differential Cell-Type Specific Responses in Human Corneal Epithelial Cells and Keratocytes.

Invest Ophthalmol Vis Sci 2019 Feb;60(2):704-711

Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, United States.

Purpose: While VZV DNA and antigen have been detected in acute and chronic VZV keratitis, it is unclear whether productive infection of corneal cells is ongoing or whether residual, noninfectious VZV antigens elicit inflammation. Herein, we examined VZV-infected primary human corneal epithelial cells (HCECs) and keratocytes (HKs) to elucidate the pathogenesis of VZV keratitis.

Methods: HCECs and HKs were mock- or VZV infected. Read More

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http://dx.doi.org/10.1167/iovs.18-25801DOI Listing
February 2019

Exploratory behavior and developmental skill acquisition in infants with down syndrome.

Infant Behav Dev 2019 Feb 18;54:140-150. Epub 2019 Feb 18.

Colorado State University, United States.

Infants learn about objects by exploring them. Typically developing infants actively explore objects through visual, manual, and oral modalities. Attenuated exploratory behavior has been observed in various neurodevelopmental disorders, including Down syndrome (DS), presumably limiting learning options. Read More

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http://dx.doi.org/10.1016/j.infbeh.2019.02.002DOI Listing
February 2019

The structure-activity relationship (SAR) for phthalate-mediated developmental and reproductive toxicity in males.

Chemosphere 2019 Feb 15;223:504-513. Epub 2019 Feb 15.

Department of Anesthesiology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China. Electronic address:

Testicular dysgenesis syndrome includes the hypospadias, cryptorchidism and abnormal fetal testis in male neonate. This is possibly caused by the environmental phthalates, which down-regulate the expression of androgen synthetic genes and Insl3 or directly inhibits steroidogenic enzymes. There are distinct structure-activity relationships (SARs) for phthalate-mediated developmental and reproductive toxicity. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00456535193031
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http://dx.doi.org/10.1016/j.chemosphere.2019.02.090DOI Listing
February 2019
1 Read

Group I metabotropic glutamate receptor activation induces TRPC6-dependent calcium influx and RhoA activation in cultured human kidney podocytes.

Biochem Biophys Res Commun 2019 Feb 16. Epub 2019 Feb 16.

Department of Nephrology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China; Institute of Nephrology, Harbin Medical University, Harbin, China. Electronic address:

Researches have shown that mice lacking the metabotropic glutamate receptor 1 (mGluR) showed albuminuria, remodeling of F-actin, with loss of stress fibers. Selective group I mGluRs agonist (S)-3,5-dihydroxyphenylglycine (DHPG) attenuated albuminuria in several rodent models of nephrotic syndrome. However, the molecular mechanism is obscure. Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.02.062DOI Listing
February 2019

Does drug induced sleep endoscopy-directed surgery improve polysomnography measures in children with Down Syndrome and obstructive sleep apnea?

Acta Otolaryngol 2018 Nov;138(11):1009-1013

c Pediatric Otolaryngology , Seattle Children's Hospital , Seattle , WA , USA.

Background: Children with Down Syndrome (DS) and obstructive sleep apnea (OSA) are difficult to treat, as first line therapies may not lead to significant improvement. Drug-induced sleep endoscopy (DISE) directed surgery may be particularly beneficial for these patients.

Objective: To assess change in polysomnography (PSG) measures of patients with DS who underwent DISE-directed surgery. Read More

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http://dx.doi.org/10.1080/00016489.2018.1504169DOI Listing
November 2018

Gene and protein expression profiles of JAK-STAT signalling pathway in the developing brain of the Ts1Cje Down syndrome mouse model.

Int J Neurosci 2019 Feb 18:1-13. Epub 2019 Feb 18.

a Genetics & Regenerative Medicine Research Centre (GRMRC), Faculty of Medicine and Health Sciences , Universiti Putra Malaysia , Selangor , Malaysia .

Aims: The JAK-STAT signalling pathway is one of the key regulators of pro-gliogenesis process during brain development. Down syndrome (DS) individuals, as well as DS mouse models, exhibit an increased number of astrocytes, suggesting an imbalance of neurogenic-to-gliogenic shift attributed to dysregulated JAK-STAT signalling pathway. The gene and protein expression profiles of JAK-STAT pathway members have not been characterised in the DS models. Read More

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http://dx.doi.org/10.1080/00207454.2019.1580280DOI Listing
February 2019

Bone mineral density from early to middle adulthood in persons with Down syndrome.

J Intellect Disabil Res 2019 Feb 18. Epub 2019 Feb 18.

Sau Po Centre on Ageing, The University of Hong Kong, Hong Kong.

Background: While accelerated ageing is recognised among individuals with Down syndrome (DS), the trajectory of their bone health across adulthood remains poorly understood.

Methods: This study aimed to determine the age-related loss of bone mineral density (BMD) of the lumbar spine in 128 adults with DS aged 18 to 54 years compared with 723 counterparts without DS.

Results: Men and women with DS had lower level of BMD than counterparts without DS across age groups. Read More

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http://dx.doi.org/10.1111/jir.12608DOI Listing
February 2019

Accelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies.

Aging Cell 2019 Feb 15:e12903. Epub 2019 Feb 15.

Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.

Down syndrome (DS) has been proposed by George Martin as a segmental progeroid syndrome since 1978. In fact, DS persons suffer from several age-associated disorders much earlier than euploid persons. Furthermore, a series of recent studies have found that DS persons display elevated levels of age biomarkers, thus supporting the notion that DS is a progeroid trait. Read More

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http://dx.doi.org/10.1111/acel.12903DOI Listing
February 2019

Ophthalmologic findings in the Cornelia de Lange syndrome.

Ophthalmic Genet 2019 Feb 15:1-6. Epub 2019 Feb 15.

a Sidney Kimmel Medical College , Thomas Jefferson University , Philadelphia , Pennsylvania , USA.

Background: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct ophthalmologic findings. In recent years, advances in molecular genetics have begun to provide new insight into the characterization of these clinical features and the genetic basis of the syndrome.

Materials And Methods: We included 37 articles that were identified through an electronic search in PubMed and through the reference lists of previously conducted reviews. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2019.1
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http://dx.doi.org/10.1080/13816810.2019.1571617DOI Listing
February 2019
9 Reads

CPEB1 is overexpressed in neurons derived from Down syndrome IPSCs and in the hippocampus of the mouse model Ts1Cje.

Mol Cell Neurosci 2019 Feb 11;95:79-85. Epub 2019 Feb 11.

Departamento de Fisiología Médica y Biofísica, Universidad de Sevilla, Sevilla, Spain; Instituto de Biomedicina de Sevilla, IBIS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. Electronic address:

Trisomy 21, also known as Down syndrome (DS), is the most frequent genetic cause of intellectual impairment. In mouse models of DS, deficits in hippocampal synaptic plasticity have been observed, in conjunction with alterations to local dendritic translation that are likely to influence plasticity, learning and memory. Here we show that expression of a local translational regulator, the Cytoplasmic Polyadenylation Element Binding Protein 1 (CPEB1), is enhanced in hippocampal neurons from the Ts1Cje DS mouse model. Read More

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http://dx.doi.org/10.1016/j.mcn.2019.02.002DOI Listing
February 2019
1 Read

Autonomous trisomic rescue of Down syndrome cells.

Lab Invest 2019 Feb 13. Epub 2019 Feb 13.

Department of Reproductive Biology, National Center for Child Health and Development, Tokyo, 157-8535, Japan.

Down syndrome is the most frequent chromosomal abnormality among live-born infants. All Down syndrome patients have mental retardation and are prone to develop early onset Alzheimer's disease. However, it has not yet been elucidated whether there is a correlation between the phenotype of Down syndrome and the extra chromosome 21. Read More

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http://dx.doi.org/10.1038/s41374-019-0230-0DOI Listing
February 2019
1 Read

Lipopolysaccharide promotes lung fibroblast proliferation through autophagy inhibition via activation of the PI3K-Akt-mTOR pathway.

Lab Invest 2019 Feb 13. Epub 2019 Feb 13.

Department of Critical Care Medicine, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.

Pulmonary fibrosis is a major cause of death in patients with acute respiratory distress syndrome (ARDS). Our previous study revealed that lipopolysaccharide (LPS) challenge could lead to mouse lung fibroblast proliferation. Additionally, inhibition of autophagy in lung fibroblasts was also reported to be crucial during the process of pulmonary fibrosis. Read More

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http://www.nature.com/articles/s41374-018-0160-2
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http://dx.doi.org/10.1038/s41374-018-0160-2DOI Listing
February 2019
3 Reads

The amyloid cascade and Alzheimer's disease therapeutics: theory versus observation.

Lab Invest 2019 Feb 13. Epub 2019 Feb 13.

Department of Biology and Brain Health Consortium, College of Sciences, The University of Texas at San Antonio, San Antonio, TX, USA.

The identification of amyloid-β precursor protein (APP) pathogenic mutations in familial early onset Alzheimer's disease (AD), along with knowledge that amyloid-β (Aβ) was the principle protein component of senile plaques, led to the establishment of the amyloid cascade hypothesis. Down syndrome substantiated the hypothesis, given an extra copy of the APP gene and invariable AD pathology hallmarks that occur by middle age. An abundance of support for the amyloid cascade hypothesis followed. Read More

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http://dx.doi.org/10.1038/s41374-019-0231-zDOI Listing
February 2019

BOLA3 Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.

Circulation 2019 Feb 14. Epub 2019 Feb 14.

Vascular Medicine Institute, University of Pittsburgh, PA.

Background: Deficiencies of iron-sulfur (Fe-S) clusters, metal complexes that control redox state and mitochondrial metabolism, have been linked to pulmonary hypertension (PH), a deadly vascular disease with poorly defined molecular origins. The BolA Family Member 3 (BOLA3) regulates Fe-S biogenesis, and mutations in BOLA3 result in multiple mitochondrial dysfunction syndrome, a fatal disorder associated with PH. The mechanistic role of BOLA3 in PH remains undefined. Read More

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.035889DOI Listing
February 2019
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Expression Profiling of Notch Signalling Pathway and Gamma-Secretase Activity in the Brain of Ts1Cje Mouse Model of Down Syndrome.

J Mol Neurosci 2019 Feb 13. Epub 2019 Feb 13.

Genetics & Regenerative Medicine Research Centre (GRMRC), Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor, Malaysia.

Notch signalling pathway is involved in the proliferation of neural progenitor cells (NPCs), to inhibit neuronal cell commitment and to promote glial cell fate. Notch protein is cleaved by gamma-secretase, a multisubunit transmembrane protein complex that releases the Notch intracellular domain (NICD) and subsequently activates the downstream targets. Down syndrome (DS) individuals exhibit an increased number of glial cells (particularly astrocytes), and reduced number of neurons suggesting the involvement of Notch signalling pathway in the neurogenic-to-gliogenic shift in DS brain. Read More

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http://dx.doi.org/10.1007/s12031-019-01275-2DOI Listing
February 2019
1 Read

[The unusual couple: a clinical case of coexistence between aHUS and Fabry's disease].

G Ital Nefrol 2019 Feb;36(1)

Professore Ordinario di Nefrologia, Università degli Studi della Campania, Luigi Vanvitelli.

Atypical hemolytic-uremic syndrome (aHUS) is a rare, potentially lethal (1-4) systemic disorder, capable of affecting both adults and children, causing thrombotic microangiopathy (TMA) (5) that leads to the formation of thrombus within small blood vessels with multiple organ failure. The pathogenesis of the aHUS is part of a sort of chronic and uncontrolled activation of the complement system by genetic mutation of some proteins usually responsible for its self-regulation (6,7). Today, the rapid diagnosis of the disease and the timely start of treatment with eculizumab, improve outcomes of renal failure, stroke and heart attack (8-10). Read More

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February 2019
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Ultrasensitive Monolayer MoS Field-Effect Transistor Based DNA Sensors for Screening of Down Syndrome.

Nano Lett 2019 Feb 13. Epub 2019 Feb 13.

Key Laboratory for the Physics and Chemistry of Nanodevices and Department of Electronics , Peking University , Beijing 100871 , China.

Field-effect transistor (FET) biosensors based on low-dimensional materials present the advantages of low cost, high speed, small size, and excellent compatibility with integrated circuits (ICs). In this work, we fabricated highly sensitive FET-based DNA biosensors based on chemical vapor deposition (CVD)-grown monolayer MoS films in batches and explored their application in noninvasive prenatal testing (NIPT) for trisomy 21 syndrome. Specifically, MoS was functionalized with gold nanoparticles (Au NPs) of an optimized size and at an ideal density, and then, probe DNAs for the specific capture of target DNAs were immobilized on the nanoparticles. Read More

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http://pubs.acs.org/doi/10.1021/acs.nanolett.8b03818
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http://dx.doi.org/10.1021/acs.nanolett.8b03818DOI Listing
February 2019
3 Reads

Potential contribution of microRNA-125b targeting p38MAPK to relieving intermittent hypoxia-induced dementia of mice models.

Curr Neurovasc Res 2019 Feb 11. Epub 2019 Feb 11.

Department of Neurology, Shanghai Eighth People's Hospital, Shanghai. China.

Introduction: The purpose of this investigation was to elucidate whether miR-125b targeting p38MAPK could relieve cognitive impairment of obstructive sleep apnea hypopnea syndrome (OSAHS) mice models.

Material And Methods: The mice models were categorized into untreated control (UC), 10% continuous hypoxic (CH), 10% chronic intermittent hypoxia (CIH) and 5% chronic intermittent hypoxia (CIH) groups. Morris Water Maze, spatial navigation test and spatial probe test were conducted to appraise the learning, memorizing and cognitive abilities of mice models. Read More

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http://dx.doi.org/10.2174/1567202616666190211155309DOI Listing
February 2019
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Indian guidelines on neurosurgical interventions in psychiatric disorders.

Indian J Psychiatry 2019 Jan-Feb;61(1):13-21

Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Neurosurgery for psychiatric disorders (NPD) has been practiced for >80 years. However, the interests have waxed and waned, from 1000s of surgeries in 1940-1950s to handful of surgery in 60-80s. This changed with the application of deep brain stimulation surgery, a surgery, considered to be "reversible" there has been a resurgence in interest. Read More

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http://dx.doi.org/10.4103/psychiatry.IndianJPsychiatry_536_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341921PMC
February 2019
1 Read

Nuclear import of the DSCAM-cytoplasmic domain drives signaling capable of inhibiting synapse formation.

EMBO J 2019 Feb 11. Epub 2019 Feb 11.

VIB Center for Brain & Disease Research, Leuven, Belgium

DSCAM and DSCAML1 are immunoglobulin and cell adhesion-type receptors serving important neurodevelopmental functions including control of axon growth, branching, neurite self-avoidance, and neuronal cell death. The signal transduction mechanisms or effectors of DSCAM receptors, however, remain poorly characterized. We used a human ORFeome library to perform a high-throughput screen in mammalian cells and identified novel cytoplasmic signaling effector candidates including the Down syndrome kinase Dyrk1a, STAT3, USP21, and SH2D2A. Read More

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http://dx.doi.org/10.15252/embj.201899669DOI Listing
February 2019
1 Read

[… and Riding as Well? Case Report about the Treatment of an Infant with Unresponsive Wakefulness Syndrome].

Rehabilitation (Stuttg) 2019 Feb 11. Epub 2019 Feb 11.

Background: There is a growing number of children surviving birth complications with severe, multiple disabilities. Unfortunately, this is not paralleled by equal growth in knowledge about adequate therapeutic approaches. Some publications showed that Hippotherapy could, under certain circumstances, be a very useful complimentary therapy for a range of disabilities. Read More

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http://dx.doi.org/10.1055/a-0835-2990DOI Listing
February 2019
1 Read

Genistein suppresses psoriasis-related inflammation through a STAT3-NF-κB-dependent mechanism in keratinocytes.

Int Immunopharmacol 2019 Feb 8;69:270-278. Epub 2019 Feb 8.

Second Clinical College of Guangzhou University of Chinese Medicine, Guangzhou 510120, Guangdong, China; Guangdong Provincial Hospital of Chinese Medicine, Guangzhou 510120, Guangdong, China; Guangdong Provincial Academy of Chinese Medical Sciences, Guangzhou 510120, Guangdong, China; Guangdong Provincial Key Laboratory of Clinical Research on Traditional Chinese Medicine Syndrome, Guangzhou 510120, Guangdong, China. Electronic address:

Psoriasis is a chronic recurrent skin inflammatory disease, and inhibition of inflammation may be an effective means of treating psoriasis. The flavonoid genistein has a clear anti-inflammatory effect. However, the anti-psoriatic effects of genistein and their underlying mechanisms remain unclear. Read More

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http://dx.doi.org/10.1016/j.intimp.2019.01.054DOI Listing
February 2019
1 Read

Mapping mononuclear phagocytes in blood, lungs, and lymph nodes of sarcoidosis patients.

J Leukoc Biol 2019 Feb 11. Epub 2019 Feb 11.

Division of Immunology and Allergy, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

Sarcoidosis is a T-cell driven inflammatory disease characterized by granuloma formation. Mononuclear phagocytes (MNPs)-macrophages, monocytes, and dendritic cells (DCs)-are likely critical in sarcoidosis as they initiate and maintain T cell activation and contribute to granuloma formation by cytokine production. Granulomas manifest primarily in lungs and lung-draining lymph nodes (LLNs) but these compartments are less studied compared to blood and bronchoalveolar lavage (BAL). Read More

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http://doi.wiley.com/10.1002/JLB.5A0718-280RR
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http://dx.doi.org/10.1002/JLB.5A0718-280RRDOI Listing
February 2019
3 Reads

A study into the feasibility of using HRV variables to guide treatment in patients with paroxystic sympathetic hyperactivity in a neurointensive step-down unit.

NeuroRehabilitation 2019 Feb 4. Epub 2019 Feb 4.

Department of Intensive Care and Neurointensive Stepdown Unit, Elective Surgery Centre, Silkeborg Regional Hospital, Denmark.

Background: Patients suffering brain injury may experience paroxystic sympathetic hyperactivity, presenting diagnostic and therapeutic challenges in neurointensive rehabilitation. The syndrome has been modelled as peripheral and central excitatory:inhibitory ratios of autonomous nervous activity. Another model represents the symptoms as oscillations of the two components of the autonomous nervous system. Read More

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http://dx.doi.org/10.3233/NRE-182557DOI Listing
February 2019

Yes-associated protein promotes early hepatocyte cell cycle progression in regenerating liver after tissue loss.

FASEB Bioadv 2019 Jan 27;1(1):51-61. Epub 2018 Nov 27.

Laboratory of the Swiss HPB and Transplantation Center, Department of Surgery University Hospital Zürich Zürich Switzerland.

The ability of the liver to restore its original volume following tissue loss has been associated with the Hippo-YAP1 pathway, a key controller of organ size. Yes-associated protein 1 (YAP1)-a growth effector usually restrained by Hippo signaling-is believed to be of particular importance; however, its role in liver regeneration remains ill-defined. To explore its function, we knocked down YAP1 prior to standard 70%-hepatectomy (sHx) using a hepatocyte-specific nanoformulation. Read More

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http://dx.doi.org/10.1096/fba.1023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351850PMC
January 2019
1 Read

Aortic dilatation in complex congenital heart disease.

Authors:
Koichiro Niwa

Cardiovasc Diagn Ther 2018 Dec;8(6):725-738

Department of Cardiology, Cardiovascular Center, St Luke's International Hospital, Tokyo, Japan.

A bicuspid aortic valve and/or coarctation of the aorta (COA) are often associated with dilatation of the ascending aorta and para-coarctation. Congenital heart diseases (CHD), such as truncus arteriosus, transposition of the great arteries (TGA), tetralogy of Fallot (TOF), hypoplastic left heart syndrome (HLHS), single ventricle with pulmonary stenosis/atresia and the Fontan procedure, are also associated with aortic root dilatation, aneurysm and rarely, dissection, which can be fatal and require aortic valve and root surgery. A significant subset of adults with complex CHD exhibit progressive dilatation of the aortic root even after repair due to aortic medial degeneration. Read More

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http://cdt.amegroups.com/article/view/23120/22178
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http://dx.doi.org/10.21037/cdt.2018.12.05DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331370PMC
December 2018
3 Reads

Down's syndrome screening at 11-14 weeks' gestation using prenasal thickness and nasal bone length.

Arch Gynecol Obstet 2019 Feb 9. Epub 2019 Feb 9.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Sigmund-Freud-Straße 25, 53127, Bonn, Germany.

Purpose: To perform a multicenter prospective study of ultrasound prenasal thickness (PT), and nasal bone length (NBL) measurement at 11-14 weeks' gestation.

Methods: Ultrasound PT and NBL determination was performed in 504 normal fetuses and 17 fetuses with Down's syndrome (DS). Measurements were made from mid-sagittal 2D images acquired using a standardized technique during nuchal translucency (NT) examination. Read More

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http://dx.doi.org/10.1007/s00404-019-05083-2DOI Listing
February 2019

Canadian Pregnant Women's Preferences Regarding NIPT for Down Syndrome: The Information They Want, How They Want to Get It, and With Whom They Want to Discuss It.

J Obstet Gynaecol Can 2019 Feb 7. Epub 2019 Feb 7.

Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, Université de Montréal, Montréal, QC.

Objective: This study sought to assess Canadian pregnant women's and their partners' preferences for information about non-invasive prenatal testing (NIPT).

Methods: Pregnant women and their partners across Canada were surveyed as part of the Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood (PEGASUS) study.

Results: A total of 882 pregnant women and 395 partners participated. Read More

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http://dx.doi.org/10.1016/j.jogc.2018.11.003DOI Listing
February 2019

The first identified heterozygous nonsense mutations in podocalyxin offer new perspectives on the biology of podocytopathies.

Clin Sci (Lond) 2019 Feb 8;133(3):443-447. Epub 2019 Feb 8.

The Biomedical Research Centre, University of British Columbia, Vancouver, Canada

In the last two decades, our understanding of the genetic underpinnings of inherited podocytopathies has advanced immensely. By sequencing the genomes of a large pool of families affected by focal segmental glomerulosclerosis (FSGS), researchers have identified a common theme: familial podocytopathies are frequently caused by genes selectively expressed in podocytes. Podocalyxin is a podocyte-specific surface sialomucin that has long been known to play important roles in podocyte morphogenesis and function. Read More

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http://dx.doi.org/10.1042/CS20181067DOI Listing
February 2019
1 Read

Impact of SchisandraChinensis Bee Pollen on Nonalcoholic Fatty Liver Disease and Gut Microbiota in HighFat Diet Induced Obese Mice.

Nutrients 2019 Feb 6;11(2). Epub 2019 Feb 6.

College of Food Science and Technology, Northwest University, 229 North TaiBai Road, Xi'an 710069, China.

bee pollen has been used as a health food in China for centuries; however, its bioactive constituents and functions are not very clear. In this study, we investigated the phenolic compounds of bee pollen extract (SCPE) by UHPLC-Q-Orbitrap-HRMS/HPLC-DAD-ECD and its prevention from nonalcoholic fatty liver disease (NAFLD) and modulation of gut microbiota in high fat diet induced obese C57BL/6 mice. The results showed that 12 phenolic compounds were identified in SCPE, and naringenin, rutin and chrysin were the main constituents. Read More

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http://dx.doi.org/10.3390/nu11020346DOI Listing
February 2019
2 Reads

Frontal cortex and striatal cellular and molecular pathobiology in individuals with Down syndrome with and without dementia.

Acta Neuropathol 2019 Feb 7. Epub 2019 Feb 7.

Department of Neurobiology and Neurology, Barrow Neurological Institute, 350 W. Thomas St, Phoenix, AZ, 85013, USA.

Although, by age 40, individuals with Down syndrome (DS) develop amyloid-β (Aβ) plaques and tau-containing neurofibrillary tangles (NFTs) linked to cognitive impairment in Alzheimer's disease (AD), not all people with DS develop dementia. Whether Aβ plaques and NFTs are associated with individuals with DS with (DSD +) and without dementia (DSD -) is under-investigated. Here, we applied quantitative immunocytochemistry and fluorescent procedures to characterize NFT pathology using antibodies specific for tau phosphorylation (pS422, AT8), truncation (TauC3, MN423), and conformational (Alz50, MC1) epitopes, as well as Aβ and its precursor protein (APP) to frontal cortex (FC) and striatal tissue from DSD + to DSD - cases. Read More

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http://dx.doi.org/10.1007/s00401-019-01965-6DOI Listing
February 2019
10.762 Impact Factor

Dementia in Down syndrome: unique insights for Alzheimer disease research.

Nat Rev Neurol 2019 Feb 7. Epub 2019 Feb 7.

Sanders Brown Center on Aging, University of Kentucky, Lexington, KY, USA.

Virtually all adults with Down syndrome (DS) show the neuropathological changes of Alzheimer disease (AD) by the age of 40 years. This association is partially due to overexpression of amyloid precursor protein, encoded by APP, as a result of the location of this gene on chromosome 21. Amyloid-β accumulates in the brain across the lifespan of people with DS, which provides a unique opportunity to understand the temporal progression of AD and the epigenetic factors that contribute to the age of dementia onset. Read More

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http://dx.doi.org/10.1038/s41582-018-0132-6DOI Listing
February 2019
1 Read

[Non-randomized trial to evaluate a continuous physiotherapy program versus interval in overweight patients suffering from acute coronary syndrome].

Aten Primaria 2019 Feb 4. Epub 2019 Feb 4.

Departamento de Fisioterapia, Universidad de Valencia, Valencia, España; Departamentos de Salud Valencia, Instituto Valenciano del Corazón, Játiva, Onteniente, Valencia, España. Electronic address:

We present a non-randomised trial to evaluate a continuous physiotherapy program versus a periodic one in overweight patients suffering from acute coronary syndrome.

Aim: To detect differences between a continuous (CONT) physiotherapy program (PF) and a periodic (INT) physiotherapy program in overweight patients with acute coronary syndrome on anthropometric parameters, analytical parameters, heart rate, adherence, drop-outs, safety and tolerance.

Design: A multicentre, non-randomised two-armed quasi-experimental study with pre-post design. Read More

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http://dx.doi.org/10.1016/j.aprim.2018.09.015DOI Listing
February 2019
1 Read

Social adaptive skills and psychopathology in adults with intellectual disabilities of non-specific origin and those with Down syndrome.

Res Dev Disabil 2019 Feb 4;87:31-42. Epub 2019 Feb 4.

Child Clinical Neuropsychology Unit, Department of Psychology, University of Geneva, Switzerland; Department of Special Education, University of Fribourg, Switzerland.

The present study aimed to assess the psychometric proprieties of a new social adaptive skills questionnaire and examine the impact of maladaptive behaviour on social functioning in adults with ID of non-specific aetiology and those with Down syndrome. The results of an exploratory factor analysis led to the exclusion of 20 items out of 48 and yielded a four-factor structure. The Confirmatory Factor Analysis conducted on 28 remaining items confirmed a four-factor structure explaining 43% of the total variance. Read More

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http://dx.doi.org/10.1016/j.ridd.2019.01.010DOI Listing
February 2019
7 Reads

MicroRNA-488 inhibits endometrial glandular epithelial cell proliferation, migration, and invasion in endometriosis mice via Wnt by inhibiting FZD7.

J Cell Mol Med 2019 Feb 7. Epub 2019 Feb 7.

Department of Reproductive Health, Nanjing Maternity and Child Health Care Hospital, The Affiliated Obstetrics and Gynecology Hospital of Nanjing Medical University, Nanjing, P. R. China.

Endometriosis is a chronic inflammatory syndrome and nearly 6%-10% of women are affected by it during the reproductive period. Previous studies have proved that microRNAs (miRNAs) are implicated in the pathogenesis of ovarian endometriosis. In this study, we aimed to investigate that restored miR-488 would effectively inhibit the development of endometriosis. Read More

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http://dx.doi.org/10.1111/jcmm.14078DOI Listing
February 2019
2 Reads

Extending the positive bias in Williams syndrome: The influence of biographical information on attention allocation.

Dev Psychopathol 2019 Feb 7:1-14. Epub 2019 Feb 7.

Department of Psychology and Centre for Atypical Neurodevelopment,Macquarie University,Sydney,Australia.

There is evidence that individuals with Williams syndrome (WS) show an attention bias toward positive social-perceptual (happy) faces. Research has not yet considered whether this attention bias extends beyond social-perceptual stimuli to perceptually neutral stimuli that are paired with positive (trustworthy) biographical information. Fourteen participants with WS (mean age = 21 years, 1 month) learned to associate perceptually neutral faces with trustworthy (positive), neutral, or untrustworthy (negative) biographical information, before completing a dot-probe task where the same biographical faces were presented. Read More

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http://dx.doi.org/10.1017/S0954579418001712DOI Listing
February 2019

An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation.

Childs Nerv Syst 2019 Feb 6. Epub 2019 Feb 6.

Department of Surgery, Division of Neurosurgery, College of Health Sciences, University of Zimbabwe, P.O Box A178, Avondale, Harare, Zimbabwe.

Bobble-head doll syndrome is a rare movement disorder that is usually associated with lesions involving the third ventricle. It is characterised by stereotypical rhythmic up-and-down or side-to-side head movements. The pathophysiology and anatomical basis for this unusual manifestation is still a subject of intense scrutiny. Read More

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http://dx.doi.org/10.1007/s00381-019-04054-xDOI Listing
February 2019

[Effect of an intervention based on virtual reality on motor development and postural control in children with Down Syndrome].

Rev Chil Pediatr 2018 Dec;89(6):747-752

Universidad Adventista de Chile, Chile.

There are few studies on the effect of a virtual reality-based intervention on motor development and postural control in children with Down Syndrome (DS).

Objective: To determine the effect of a virtual reality-based intervention on motor development and postural control in children with DS.

Patients And Method: Study with a quantitative approach, with a quasi-experimental design, which included 16 children with DS randomly assigned to an experimental group (GWBB, n = 9) and con trol group (GC, n = 7). Read More

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http://dx.doi.org/10.4067/S0370-41062018005001202DOI Listing
December 2018

[Characterization of celiac disease in chilean public hospitals].

Rev Chil Pediatr 2018 Dec;89(6):709-717

Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Chile.

Introduction: The worldwide prevalence of celiac disease (CD) is ~1% of the population. In Chile, the National Health Survey 2009-2010 showed a serological prevalence in individuals older than 15 years of 0.76% (IgA-tTG2), which corresponded in Concepción to 0. Read More

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http://dx.doi.org/10.4067/S0370-41062018005001001DOI Listing
December 2018
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Atlantoaxial instability management in down syndrome.

J Neurosurg Sci 2019 Feb 4. Epub 2019 Feb 4.

Department of Neurosurgery and Gamma Knife Radiosurgery, I.R.C.C.S. San Raffaele Scientific Institute, Vita-Salute University, Milan, Italy.

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http://dx.doi.org/10.23736/S0390-5616.19.04626-5DOI Listing
February 2019
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Need for new thinking: Treatment of relapsed leukemia in children with Down syndrome.

Pediatr Blood Cancer 2019 Feb 5:e27644. Epub 2019 Feb 5.

Division of Hematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/pbc.27644DOI Listing
February 2019

[Sleep-Disordered Breathing in Childhood].

Praxis (Bern 1994) 2019 Jan;108(2):97-102

1 Zentrum für Schlafmedizin der Basler Universitätskliniken USB, UKBB, UPK, Basel.

Sleep-Disordered Breathing in Childhood Abstract. One out of ten healthy children is a habitual snorer, and one fourth of snoring children suffer from obstructive sleep apnea syndrome (OSAS). While OSAS is widely recognized as a relevant social and health problem due to its negative impact on behavior and neurocognitive development, the medical significance of habitual snoring remains debated. Read More

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http://dx.doi.org/10.1024/1661-8157/a003162DOI Listing
January 2019
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Advances in the proteomics of amniotic fluid to detect biomarkers for chromosomal abnormalities and fetomaternal complications during pregnancy.

Expert Rev Proteomics 2019 Feb 5:1-10. Epub 2019 Feb 5.

a Shobhaben Pratapbhai Patel School of Pharmacy and Technology Management , SVKM'S NMIMS , V.L. Mehta Road, Vile Parle west, Mumbai - 400056 , India.

Introduction: Amniotic fluid (AF) is a dynamic and complex mixture that reflects the physiological condition of developing fetus. In the last decade, proteomic analysis of AF for 16-18 weeks normal pregnancy has been done for the composition and functions of this fluid. Other body fluids such as urine, sweat, tears, etc. Read More

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http://dx.doi.org/10.1080/14789450.2019.1578213DOI Listing
February 2019
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Nociceptin/orphanin FQ receptor modulates painful and fatigue symptoms in a mouse model of fibromyalgia.

Pain 2019 Jan 31. Epub 2019 Jan 31.

Escola de Ciências, Programa de Pós-Graduação em Biologia Celular e Molecular, Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS), Porto Alegre 90619-900, Brazil.

Generalized pain and fatigue are both hallmarks of fibromyalgia, a syndrome with an indefinite aetiology. The treatment options for fibromyalgia are currently limited, probably due to its intricate pathophysiology. Thus, further basic and clinical research on this condition is currently needed. Read More

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http://dx.doi.org/10.1097/j.pain.0000000000001513DOI Listing
January 2019
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Maternal thyroid autoimmunity associated with acute-onset neuropsychiatric disorders and global regression in offspring.

Dev Med Child Neurol 2019 Feb 5. Epub 2019 Feb 5.

Neurology Department, The Children's Hospital at Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.

Epidemiological studies, animal models, and case-control studies indicate maternal immune activation may be an important factor involved in disease expression of autism spectrum disorder (ASD), Tourette syndrome, and obsessive-compulsive disorder (OCD). We report eight children (mean age 6y 6mo [range 4-15y]; six males and two females) referred over a 2-year period with at least one of these neurodevelopmental disorders plus a maternal history of thyroid autoimmunity. Seven of eight children presented with an abrupt onset of neuropsychiatric symptoms (OCD [n=6], tics [n=5], and/or psychosis [n=1]), associated with an autistic or global regression. Read More

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http://dx.doi.org/10.1111/dmcn.14167DOI Listing
February 2019
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Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome.

Life Sci Alliance 2019 Feb 4;2(1). Epub 2019 Feb 4.

Friedrich Miescher Laboratory of the Max Planck Society, Tübingen, Germany

RecQ-like helicase 4 (RECQL4) is mutated in patients suffering from the Rothmund-Thomson syndrome, a genetic disease characterized by premature aging, skeletal malformations, and high cancer susceptibility. Known roles of RECQL4 in DNA replication and repair provide a possible explanation of chromosome instability observed in patient cells. Here, we demonstrate that RECQL4 is a microtubule-associated protein (MAP) localizing to the mitotic spindle. Read More

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http://dx.doi.org/10.26508/lsa.201800120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362308PMC
February 2019
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Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study.

BMC Pregnancy Childbirth 2019 Feb 4;19(1):55. Epub 2019 Feb 4.

Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, 30 Gascoigne Road, Hong Kong, SAR, China.

Background: When cell-free DNA (cfDNA) testing is used as a secondary screening tool following combined first-trimester screening (cFTS), cFTS is used to estimate the prior risk for chromosome abnormalities. This study aimed to assess the factors that are associated with common and atypical abnormalities following cFTS, including cFTS risk, advanced maternal age, increased nuchal translucency (NT) ≥3.5 mm, and abnormal levels of serum markers. Read More

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http://dx.doi.org/10.1186/s12884-019-2205-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360741PMC
February 2019
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Epidemiology of technology addiction among school students in rural India.

Asian J Psychiatr 2019 Jan 24;40:30-38. Epub 2019 Jan 24.

Department of Psychiatry, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

Objective: Penetration of mobile technology is rapidly rising. Excessive use leads to Technology addiction, which often start early in adolescence. The purpose of the present study was to assess Technology addiction and its correlates among school students in rural India. Read More

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http://dx.doi.org/10.1016/j.ajp.2019.01.009DOI Listing
January 2019
2 Reads