35,947 results match your criteria Down Syndrome


NIPA2 regulates osteoblast function via its effect on apoptosis pathways in type 2 diabetes osteoporosis.

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

Department of Orthopedics, The First Hospital of China Medical University, Shenyang, Liaoning, China. Electronic address:

Type 2 diabetes osteoporosis has recently become a hot topic in the study of diabetic complications, but the specific mechanism of its development remains unclear. Non-imprinted in Prader-Willi/Angelman syndrome region protein 2 (NIPA2), a highly-selective magnesium ion transporter, has been found to be associated with type 2 diabetes. In this study we aimed to investigate the specific role and mechanism of NIPA2 in the pathogenesis of type 2 diabetes osteoporosis. Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.04.030DOI Listing

Familial chylomicronemia syndrome: A rare but devastating autosomal recessive disorder characterized by refractory hypertriglyceridemia and recurrent pancreatitis.

Trends Cardiovasc Med 2019 Mar 19. Epub 2019 Mar 19.

Division of Cardiology, Advocate Heart Institute at Advocate Lutheran General, Hospital, 1775 Dempster St., Parkside B-01, Park Ridge, IL 60068, USA. Electronic address:

Familial Chylomicronemia Syndrome (FCS) is a rare autosomal recessive lipid disorder characterized by severe hypertriglyceridemia and recurrent pancreatitis. Because the disorder is often misdiagnosed or not diagnosed and because traditional triglyceride lowering medications are often ineffective, the disease leads to a tremendous physical, social and emotional burden on afflicted patients and their caretakers. Mutations in 5 different genes have been implicated in the development of FCS, all of which have an effect on the activity of lipoprotein lipase. Read More

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http://dx.doi.org/10.1016/j.tcm.2019.03.001DOI Listing

Natural Diterpenoid Oridonin Ameliorates Experimental Autoimmune Neuritis by Promoting Anti-inflammatory Macrophages Through Blocking Notch Pathway.

Front Neurosci 2019 2;13:272. Epub 2019 Apr 2.

Department of Pathology, Nanjing Medical University, Nanjing, China.

The diterpenoid compound, Oridonin, extracted from the Chinese herb, , possesses multiple biological activities and properties. Oridonin exhibited efficient anti-inflammatory activity by inducing a switch in macrophage polarization to the anti-inflammatory phenotype through inhibition of the Notch pathway in our study; therefore, its potential therapeutic effects were further investigated in the animal model of human Guillain-Barré syndrome (GBS) and other polyneuropathies - experimental autoimmune neuritis (EAN). Either preventive or therapeutic treatments with Oridonin greatly attenuated disease peak severity, suppressed paraparesis, shortened disease duration, and even delayed EAN onset. Read More

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http://dx.doi.org/10.3389/fnins.2019.00272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454011PMC

Enhanced dendritic inhibition and impaired NMDAR activation in a mouse model of Down syndrome.

J Neurosci 2019 Apr 18. Epub 2019 Apr 18.

Department of Biomedicine, University of Basel, Pestalozzistr. 20, CH-4056 Basel, Switzerland

Down syndrome (DS) or Trisomy 21 is a developmental disorder leading to cognitive deficits including disruption of hippocampus-dependent learning and memory. Enhanced inhibition has been suggested to underlie these deficits in DS based on studies using the Ts65Dn mouse model. Here we show that in this mouse model, GABAergic synaptic inhibition onto dendrites of hippocampal pyramidal cells is increased. Read More

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http://www.jneurosci.org/lookup/doi/10.1523/JNEUROSCI.2723-1
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http://dx.doi.org/10.1523/JNEUROSCI.2723-18.2019DOI Listing
April 2019
1 Read

Mechanisms underlying a critical period of respiratory development in the rat.

Respir Physiol Neurobiol 2019 Apr 15. Epub 2019 Apr 15.

Lovelace Respiratory Research Institute, 2425 Ridgecrest Drive, SE, Albuquerque, New Mexico 87108, USA.

Twenty-five years ago, Filiano and Kinney (1994) proposed that a critical period of postnatal development constitutes one of the three risk factors for sudden infant death syndrome (SIDS). The underlying mechanism was poorly understood. In the last 17 years, much has been uncovered on this period in the rat. Read More

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http://dx.doi.org/10.1016/j.resp.2019.04.006DOI Listing
April 2019
1 Read

Association of Exercise and Swimming Goggles With Modulation of Cerebro-ocular Hemodynamics and Pressures in a Model of Spaceflight-Associated Neuro-ocular Syndrome.

JAMA Ophthalmol 2019 Apr 18. Epub 2019 Apr 18.

Integrated Cardiovascular Exercise Physiology and Rehabilitation Laboratory, College of Nursing and Health Innovation, University of Texas at Arlington, Arlington.

Importance: Astronauts on International Space Station missions demonstrate adverse neuro-ocular changes. Reversing a negative translaminar pressure gradient (TLPG) by modulating cerebral blood flow, decreasing intracranial pressure, or increasing intraocular pressure (IOP) has been proposed as potential intervention for spaceflight-associated neuro-ocular syndrome (SANS).

Objective: To examine whether exercise (resistance, moderate-intensity aerobic, and high-intensity aerobic) or artificially increasing IOP is associated with modulated cerebro-ocular hemodynamic and pressure changes during head-down tilt (HDT), an analogue of spaceflight, in healthy adults. Read More

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http://dx.doi.org/10.1001/jamaophthalmol.2019.0459DOI Listing
April 2019
1 Read

Down syndrome mouse models have an abnormal enteric nervous system.

JCI Insight 2019 Apr 18;5. Epub 2019 Apr 18.

Children with trisomy 21 (Down syndrome [DS]) have a 130-fold increased incidence of Hirschsprung Disease (HSCR), a developmental defect where the enteric nervous system (ENS) is missing from distal bowel (i.e., distal bowel is aganglionic). Read More

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http://dx.doi.org/10.1172/jci.insight.124510DOI Listing

Most common histopathological patterns of the Minas Gerais Association of the Centers of Nephrology.

Rev Assoc Med Bras (1992) 2019 Mar 11;65(3):441-445. Epub 2019 Apr 11.

MD, Nephrologist, MSc in Science from Unifesp, São Paulo/ São João de Deus Hospital - Brasil.

Introduction: We analyzed the distribution and frequency of glomerular diseases in patients biopsied between 1992 and 2016 in centers that make up the AMICEN (Minas Gerais Association of Nephrology Centers).

Methods: We analyzed the biopsy reports of patients from 9 AMICEN nephrology centers. We took note of their age, gender, ultrasound use, post-biopsy resting time, whether the kidney was native or a graft, number of glomeruli and indication for the biopsy. Read More

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http://dx.doi.org/10.1590/1806-9282.65.3.441DOI Listing
March 2019
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Vaccines for emerging pathogens: from research to the clinic.

Authors:
E D Williamson

Clin Exp Immunol 2019 May;196(2):155-156

Defence Science and Technology Laboratory, Porton Down, Salisbury, UK.

In this two-part series of reviews, we have invited experts in their fields to contribute articles on the status of vaccine research and development for emerging pathogens. This topic has been brought into sharp focus in recent years following significant outbreaks of viral diseases such as those causing severe acute respiratory syndrome and Middle East respiratory syndrome, as well as devastating outbreaks of diseases caused by the Ebola, Marburg, Zika and Lassa fever viruses, to name only a few examples. Additionally, bacterial infections leading to bubonic and pneumonic plague, most notably in Madagascar in 2018, as well as malaria in many tropical countries, melioidosis in south east Asia and tularaemia in northern Europe and North America, have incurred significant morbidity and mortality. Read More

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http://doi.wiley.com/10.1111/cei.13303
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http://dx.doi.org/10.1111/cei.13303DOI Listing
May 2019
2 Reads

Molecular features, prognosis, and novel treatment options for pediatric acute megakaryoblastic leukemia.

Expert Rev Hematol 2019 Apr 16. Epub 2019 Apr 16.

a Department of Hematology , Juntendo University Graduate School of Medicine , Tokyo , Japan .

Introduction: Acute megakaryoblastic leukemia (AMegL) is a rare hematological neoplasm most often diagnosed in children and is commonly associated with Down syndrome (DS). Although AMegLs are specifically characterized and typically diagnosed by megakaryoblastic expansion, recent advancements in molecular analysis have highlighted the heterogeneity of this disease, with specific cytogenic and genetic alterations characterizing different disease sub-types. Areas covered: This review will focus on describing recurrent molecular variations in both DS and non-DS pediatric AMegL, their role in promoting leukemogenesis, their association with different clinical aspects and prognosis, and finally, their influence on future treatment strategies with a number of specific drugs beyond conventional chemotherapy already under development. Read More

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http://dx.doi.org/10.1080/17474086.2019.1609351DOI Listing

Neuregulin-1-ErbB signaling promotes microglia activation contributing to mechanical allodynia of cyclophosphamide-induced cystitis.

Neurourol Urodyn 2019 Apr 15. Epub 2019 Apr 15.

Department of Urology, Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.

Aims: Central sensitization playsimportant roles in cyclophosphamide (CYP)-induced cystitis. In addition, as a visceral pain, CYP-induced chronic pain shares common pathophysiological mechanisms with neuropathic pain. Previous studies demonstrated that neuregulin-1 (Nrg1)-ErbB signaling contributes to neuropathic pain, but whether and how this signaling influences mechanical allodynia in CYP-induced cystitis is unclear. Read More

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http://dx.doi.org/10.1002/nau.24005DOI Listing
April 2019
1 Read

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.

Mol Neurobiol 2019 Apr 13. Epub 2019 Apr 13.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Box 815, SE-751 08, Uppsala, Sweden.

Down syndrome (DS) or trisomy 21 (T21) is a leading genetic cause of intellectual disability. To gain insights into dynamics of molecular perturbations during neurogenesis in DS, we established a model using induced pluripotent stem cells (iPSC) with transcriptome profiles comparable to that of normal fetal brain development. When applied on iPSCs with T21, transcriptome and proteome signatures at two stages of differentiation revealed strong temporal dynamics of dysregulated genes, proteins and pathways belonging to 11 major functional clusters. Read More

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http://dx.doi.org/10.1007/s12035-019-1585-3DOI Listing
April 2019
1 Read

Symmetry of dental agenesis in Down Syndrome children.

J Dent Sci 2019 Mar 30;14(1):61-65. Epub 2018 Nov 30.

Department of Molecular Medicine, University of Padova, Italy.

Background/purpose: Down syndrome (DS) may affect the mouth, influencing its function, feeding and hence overall health status. We aim at investigating the frequency and type of dental agenesis in a school-age DS sample, evaluating gender, laterality, upper or lower side, and mono- or bi-laterality.

Materials And Methods: Oral clinical and radiological exams were performed. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S19917902183104
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http://dx.doi.org/10.1016/j.jds.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445980PMC
March 2019
1 Read

Haemophagocytic syndrome due to Ebstein-Barr virus.

Authors:
Anuj Sarma

Indian J Anaesth 2019 Mar;63(3):248-250

Department of Anaesthesia and Critical Care, Down Town Hospital, Gauhati, Assam, India.

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http://dx.doi.org/10.4103/ija.IJA_763_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423934PMC

Trisomy 21 in both fetuses in a DCDA twin pregnancy.

BMJ Case Rep 2019 Apr 14;12(4). Epub 2019 Apr 14.

Obstetrics and Gynecology, National University Hospital, Singapore.

A woman's chances of having a child with Down syndrome increases with age. By age 40, the risk of conceiving a child with Down syndrome is about 1 in 100. We report a rare case of dizygotic dichorionic diamniotic twin pregnancy conceived via in vitro fertilisation, with both twins having trisomy 21. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22760
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http://dx.doi.org/10.1136/bcr-2018-227608DOI Listing
April 2019
2 Reads

A biomechanical study of gait initiation in Down syndrome.

BMC Neurol 2019 Apr 15;19(1):66. Epub 2019 Apr 15.

Department of Electronics, Information and Bioengineering, Politecnico di Milano, Piazza Leonardo da Vinci 32, 20133, Milan, Italy.

Background: Gait Initiation (GI) is a functional task that challenges the balance control requiring weight shift and a transition from standing to walking. Individuals with Down Syndrome (DS) walk with low velocity, prolonged stance and shorter steps beside an increased support base. However, no studies performed GI analysis on this population. Read More

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http://dx.doi.org/10.1186/s12883-019-1288-4DOI Listing

Essential Role of Visfatin in Lipopolysaccharide and Colon Ascendens Stent Peritonitis-Induced Acute Lung Injury.

Int J Mol Sci 2019 Apr 4;20(7). Epub 2019 Apr 4.

Translational Research Center, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 807, Taiwan.

Acute lung injury (ALI) is a life-threatening syndrome characterized by acute and severe hypoxemic respiratory failure. Visfatin, which is known as an obesity-related cytokine with pro-inflammatory activities, plays a role in regulation of inflammatory cytokines. The mechanisms of ALI remain unclear in critically ill patients. Read More

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http://dx.doi.org/10.3390/ijms20071678DOI Listing
April 2019
2 Reads

End-stage renal disease in a Down syndrome patient caused by delayed diagnosis of nonneurogenic bladder: A case report.

Medicine (Baltimore) 2019 Apr;98(15):e15145

Department of Internal Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Korea.

Rationale: Patients with Down syndrome (DS) have a higher incidence of nonneurogenic neurogenic bladder (NNB) than do normal subjects. Renal failure may occur frequently in NNB patients. Although most of the cases of NNB patients with DS reported to date have been acute renal injuries, we report a patient with DS who was diagnosed late with urinary tract obstruction due to NNB that finally proceeded to end-stage renal disease (ESRD). Read More

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http://dx.doi.org/10.1097/MD.0000000000015145DOI Listing
April 2019
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Impacts of Duck-Origin Parvovirus Infection on Cherry Valley Ducklings From the Perspective of Gut Microbiota.

Front Microbiol 2019 28;10:624. Epub 2019 Mar 28.

Key Laboratory of Animal Disease and Human Health of Sichuan Province, College of Veterinary Medicine, Sichuan Agricultural University, Chengdu, China.

Duck-origin goose parvovirus (D-GPV) is the causative agent of beak atrophy and dwarfism syndrome (BADS), characterized by growth retardation, skeletal dysplasia, and persistent diarrhea. However, the pathogenic mechanism of D-GPV remains undefined. Here, we first reported the gut microbiome diversity of D-GPV infected Cherry Valley ducks. Read More

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http://dx.doi.org/10.3389/fmicb.2019.00624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450226PMC

Three-Dimensional Printed Patient Models for Complex Pediatric Spinal Surgery.

Ochsner J 2019 ;19(1):49-53

The University of Queensland Faculty of Medicine, Ochsner Clinical School, New Orleans, LA.

Pediatric spinal deformity surgeries are challenging operations that require considerable expertise and resources. The unique anatomy and rarity of these cases present challenges in surgical training and preparation. We present a case series illustrating how 3-dimensional (3-D) printed models were used in preoperative planning for 3 cases of pediatric spinal deformity surgery. Read More

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http://www.ochsnerjournal.org/lookup/doi/10.31486/toj.18.011
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http://dx.doi.org/10.31486/toj.18.0117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447199PMC
January 2019
2 Reads

Verb-mediated anticipatory eye movements in people with Down syndrome.

Int J Lang Commun Disord 2019 Apr 14. Epub 2019 Apr 14.

Laboratorio de Psicolingüística, Facultad de Psicología, Universidad Nacional Autónoma de México, Mexico City, Mexico.

Background: Children and adults with neurotypical development employ linguistic information to predict and anticipate information. Individuals with Down syndrome (DS) have weaknesses in language production and the domain of grammar but relative strengths in language comprehension and the domain of semantics. What is not clear is the extent to which they can use linguistic information, as it unfolds in real time, to anticipate upcoming information correctly. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/1460-6984.12
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http://dx.doi.org/10.1111/1460-6984.12473DOI Listing
April 2019
1 Read

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Am J Hum Genet 2019 Apr 10. Epub 2019 Apr 10.

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK. Electronic address:

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029297193010
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http://dx.doi.org/10.1016/j.ajhg.2019.03.005DOI Listing
April 2019
6 Reads

Geniposide alleviates lipopolysaccharide-caused apoptosis of murine kidney podocytes by activating Ras/Raf/MEK/ERK-mediated cell autophagy.

Artif Cells Nanomed Biotechnol 2019 Dec;47(1):1524-1532

a Department of Nephrology , Jining No.1 People's Hospital , Jining , China.

Proteinuria is one of the most important clinical features of nephrotic syndrome (NS). Injury of podocyte has been proved to contribute to the occurrence of proteinuria. This study explored the effects of geniposide (GEN) on lipopolysaccharide (LPS)-caused murine kidney podocyte MPC5 apoptosis and autophagy. Read More

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http://dx.doi.org/10.1080/21691401.2019.1601630DOI Listing
December 2019
1 Read

Down syndrome: Current incidence and comorbidities.

Med Clin (Barc) 2019 Apr 10. Epub 2019 Apr 10.

Unidad de Endocrinología Pediátrica, Hospital Universitario Miguel Servet, Zaragoza, España.

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http://dx.doi.org/10.1016/j.medcli.2019.02.017DOI Listing

[Pain assessment in Down Syndrome patients: a narrative review of the literature].

Prof Inferm 2018 Oct-Dec;71(4):209-220

Coordinatore Didattico CdL in Infermieristica M, Sapienza Università di Roma, sede AO S. Camillo-Forlanini, Roma.

Objective: The paper provides a description of available measurement tools which are able to adequately assess acute chronic pain in Down Syndrome (DS) patients, regardless of their age and cognitive impairment.

Methods: Papers referring to DS patients were sought using different databases, such as PubMed, CINAHL, Scopus, Web of Science (ISI) and Cochrane, with no limit of time and published up to October 2017. All validated tools applicable to DS patients were included in the search, which consisted of papers published both in English and Italian. Read More

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http://dx.doi.org/10.7429/pi.2018.714209DOI Listing
April 2019
2 Reads

[Other specific types of diabetes and exocrine pancreatic insufficiency (Update 2019)].

Wien Klin Wochenschr 2019 Apr 12. Epub 2019 Apr 12.

Klinische Abteilung für Endokrinologie und Stoffwechsel, Universitätsklinik für Innere Medizin III, Medizinische Universität Wien, Wien, Österreich.

The heterogenous catagory "specific types of diabetes due to other causes" encompasses disturbances in glucose metabolism due to other endocrine disorders such as acromegaly or hypercortisolism, drug-induced diabetes (e. g. antipsychotic medications, glucocorticoids, immunosuppressive agents, highly active antiretroviral therapy (HAART)), genetic forms of diabetes (e. Read More

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http://dx.doi.org/10.1007/s00508-019-1454-0DOI Listing
April 2019
1 Read

A comprehensive proteomics-based interaction screen that links DYRK1A to RNF169 and to the DNA damage response.

Sci Rep 2019 Apr 12;9(1):6014. Epub 2019 Apr 12.

Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), 08003, Barcelona, Spain.

Dysregulation of the DYRK1A protein kinase has been associated with human disease. On the one hand, its overexpression in trisomy 21 has been linked to certain pathological traits of Down syndrome, while on the other, inactivating mutations in just one allele are responsible for a distinct yet rare clinical syndrome, DYRK1A haploinsufficiency. Moreover, altered expression of this kinase may also provoke other human pathologies, including cancer and diabetes. Read More

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http://dx.doi.org/10.1038/s41598-019-42445-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461666PMC

Higher melatonin in the follicle fluid and MT2 expression in the granulosa cells contribute to the OHSS occurrence.

Reprod Biol Endocrinol 2019 Apr 12;17(1):37. Epub 2019 Apr 12.

Reproductive Medical Center, The First Affiliated Hospital of Zhengzhou University, 450052, Zhengzhou, People's Republic of China, Zhengzhou No. 1 construction east road, He'nan Province, China.

Background: Ovarian hyperstimulation syndrome (OHSS) is a common and severe complication for patients undergoing IVF/ICSI-ET. Melatonin widely participates in the regulation of female reproductive endocrine activity. However, whether melatonin participates in the progression of OHSS is largely unknown. Read More

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https://rbej.biomedcentral.com/articles/10.1186/s12958-019-0
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http://dx.doi.org/10.1186/s12958-019-0479-6DOI Listing
April 2019
2 Reads

Development of bilateral dural arteriovenous fistulae following pial synangiosis for moyamoya syndrome: case report.

J Neurosurg Pediatr 2019 Apr 12:1-5. Epub 2019 Apr 12.

Departments of1Neurosurgery and.

Moyamoya syndrome predisposes patients to ischemic or hemorrhagic stroke due to progressive narrowing of intracranial vessels with subsequent small-vessel collateralization. Dural arteriovenous fistulae (DAVFs) are most commonly noted after venous sinus or cortical vein thrombosis and are believed to be primarily due to venous hypertension and elevated sinus pressures, although there is no known association with moyamoya syndrome, or with surgical treatment for moyamoya disease (MMD). The authors present the case of a 14-year-old girl with Down syndrome treated using pial synangiosis for MMD who subsequently was noted to have bilateral DAVFs. Read More

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http://dx.doi.org/10.3171/2019.2.PEDS18603DOI Listing
April 2019
1 Read

Variants in DOCK3 cause developmental delay and hypotonia.

Eur J Hum Genet 2019 Apr 11. Epub 2019 Apr 11.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

The DOCK3 gene encodes the Dedicator of cytokinesis 3 (DOCK3) protein, which belongs to the family of guanine nucleotide exchange factors and is expressed almost exclusively in the brain and spinal cord. We used whole exome sequencing (WES) to investigate the molecular cause of developmental delay and hypotonia in three unrelated probands. WES identified truncating and splice site variants in Patient 1 and compound heterozygous and homozygous missense variants in Patients 2 and 3, respectively. Read More

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http://dx.doi.org/10.1038/s41431-019-0397-2DOI Listing

Evaluation of the masticatory muscle function, physiological sleep variables, and salivary parameters after electromechanical therapeutic approaches in adult patients with Down syndrome: a randomized controlled clinical trial.

Trials 2019 Apr 11;20(1):215. Epub 2019 Apr 11.

Center of Biosciences Applied to Patients with Special Health Care Needs (CEBAPE), Institute of Science and Technology, São José dos Campos Campus, São Paulo State University-UNESP, R: Esperança 265, São Paulo, SP, Brazil.

Background: There are many comorbidities associated with Down syndrome (DS), including obstructive sleep apnea (OSA) and masticatory muscle alteration. Muscular hypotonia, in particular, of the masticatory and oropharyngeal muscles is one of the main characteristics of individuals with DS, resulting in impairments of speech, swallowing, and mastication in these individuals. In addition, total or partial obstruction of the airways during sleep can occur due to pharyngeal hypotonia, leading to snoring and to OSA. Read More

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http://dx.doi.org/10.1186/s13063-019-3300-0DOI Listing
April 2019
1 Read
2.117 Impact Factor

A cohort study of the association between maternal serum Inhibin-A and adverse pregnancy outcomes: a population-based study.

BMC Pregnancy Childbirth 2019 Apr 11;19(1):124. Epub 2019 Apr 11.

Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand.

Background: To compare the rates of adverse pregnancy outcomes between women with normal and abnormal inhibin-A levels.

Methods: Based on a prospective database of Down syndrome screening program, the consecutive records were comprehensively reviewed. Pregnancies were classified into three groups: normal, high (> 2 MoM) and low (< 0. Read More

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http://dx.doi.org/10.1186/s12884-019-2266-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458687PMC
April 2019
6 Reads

Placental Pathology in Down Syndrome-Associated Transient Abnormal Myelopoiesis.

Arch Pathol Lab Med 2019 Apr 10. Epub 2019 Apr 10.

From the Department of Pathology, University of Arkansas for Medical Sciences, Little Rock.

Transient abnormal myelopoiesis is a hematopoietic disorder that occurs in up to 10% of neonates with Down syndrome. It is characterized by leukocytosis and the presence of circulating blast cells harboring truncating GATA1 mutations with variable multiorgan system involvement. Placental involvement of transient abnormal myelopoiesis is infrequently described. Read More

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http://dx.doi.org/10.5858/arpa.2018-0248-RSDOI Listing

Strategies in the clinical diagnosis and surgical treatment of OSAHS with multilevel obstruction.

J Int Med Res 2019 Apr 13;47(4):1533-1543. Epub 2019 Jan 13.

Department of Otorhinolaryngology, Jishuitan Hospital, Beijing, China.

Objective: To examine the safety and effectiveness of individualized treatment strategies that include three principles (security, top-down and priority) for patients with obstructive sleep apnoea hypopnea syndrome (OSAHS) and multilevel obstruction who decline therapy with continuous positive airway pressure (CPAP).

Methods: Patients with OSAHS and upper airway obstruction who were diagnosed with multilevel obstruction were included in this retrospective study. Patients were evaluated for the degree of obstruction in each level. Read More

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http://dx.doi.org/10.1177/0300060518822209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460628PMC
April 2019
3 Reads

Assessing Hereditary Colorectal Cancer Referral Patterns to a Tertiary Care Center: A Novel Approach Using Geographic Information System Mapping.

Dis Colon Rectum 2019 Apr 5. Epub 2019 Apr 5.

Background: Patients and their family members with hereditary colorectal cancer require longitudinal follow-up that is best achieved through a dedicated program with a registry. However, referrals for these conditions remain poor. Geographic information systems technology is a novel method to evaluate geographic variation in multiple realms but is being used more in health care. Read More

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http://dx.doi.org/10.1097/DCR.0000000000001398DOI Listing
April 2019
3 Reads

Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study.

J Genet Couns 2019 Apr 14;28(2):343-354. Epub 2018 Dec 14.

Department of Social Research, University of Helsinki, Unioninkatu 37, P.O. Box 54, 00014, Helsinki, Finland.

Genome-wide sequencing may generate secondary findings (SFs). It is recommended that validated, clinically actionable SFs are reported back to patients/research participants. To explore publics' perspectives on the best ways to do this, we performed a vignette study among Finnish adults. Read More

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http://dx.doi.org/10.1007/s10897-018-0288-7DOI Listing
April 2019
4 Reads

Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated.

Diabetes 2019 Apr 8. Epub 2019 Apr 8.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK

Identifying new causes of permanent neonatal diabetes (diagnosis <6 months; PNDM) provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are 4 times more likely to have childhood diabetes with an intermediate HLA association. It is not known if DS can cause PNDM. Read More

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http://dx.doi.org/10.2337/db19-0045DOI Listing
April 2019
8.095 Impact Factor

Spectral Domain Optical Coherence Tomography in Detecting Sub-Clinical Retinal Findings in Asian Indian Children with Down Syndrome.

Curr Eye Res 2019 Apr 8:1-7. Epub 2019 Apr 8.

e Department of Ophthalmology , Narayana Nethralaya Eye Institute , Bangalore , India.

Purpose: Trisomy 21, also known as Down syndrome (DS), is the most common trisomy worldwide. Although ocular associations have been reported, retinal anatomy and pathology remain uninvestigated. We evaluate the role of spectral domain optical coherence tomography (SD-OCT) in analyzing foveal morphology of children with DS. Read More

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http://dx.doi.org/10.1080/02713683.2019.1597128DOI Listing

CT Imaging Categorization and Biomarker Study of Anomalous Tympanic Segment of the Facial Nerves in Patients With Hearing Loss in the Absence of Microtia.

Ear Nose Throat J 2019 Apr 8:145561319839899. Epub 2019 Apr 8.

1 Department of Radiology, University of Chicago Pritzker School of Medicine, Chicago, IL, USA.

The purpose of this study is to categorize anomalous tympanic facial nerve (FN) on high-resolution computed tomography (HRCT) and to determinate the significance of associated temporal bone anomalies and congenital syndromes without microtia in patients with hearing loss. A retrospective analysis of HRCT findings in 30 temporal bones in 18 patients with anomalous FN was performed. Abnormalities of the tympanic FN were categorized as follows: category 1: FN medially positioned, but above the oval window; category 2: FN in the oval window niche; and category 3: FN below the oval window. Read More

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http://dx.doi.org/10.1177/0145561319839899DOI Listing

Participation in Social Skills Therapy is Associated With Enhanced Recall Memory by Children With Down Syndrome: An Exploratory Study.

Behav Modif 2019 Apr 9:145445519841051. Epub 2019 Apr 9.

1 University of California, Irvine, USA.

Participation in social skills therapy (SST) facilitates cognitive functioning in children with developmental disabilities. The present pilot study examined whether participation in SST was associated with enhanced encoding and 1-month delayed recall in children with Down syndrome (DS). Children were presented with novel three-step event sequences in an elicited imitation procedure. Read More

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http://dx.doi.org/10.1177/0145445519841051DOI Listing

Autism spectrum disorder (ASD) symptom profiles of children with comorbid Down syndrome (DS) and ASD: A comparison with children with DS-only and ASD-only.

Res Dev Disabil 2019 Apr 5;89:83-93. Epub 2019 Apr 5.

Department of Psychology, Drexel University, Philadelphia, PA, United States.

Background: Down syndrome (DS) is associated with increased rates of autism spectrum disorder (ASD), characterized by social-communicative impairments (SOC-COM) and repetitive behaviors and interests (RBI). However, little is known about the ASD symptom presentation in children with DS + ASD.

Aims: The current study sought to describe parent-report of SOC-COM and RBI symptoms on the Autism Diagnostic Interview -Revised (ADI-R) in children with DS (n = 22), DS + ASD (n = 11), and ASD (n = 66). Read More

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http://dx.doi.org/10.1016/j.ridd.2019.03.003DOI Listing
April 2019
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A CRTH2 antagonist, CT-133, suppresses NF-κB signalling to relieve lipopolysaccharide-induced acute lung injury.

Eur J Pharmacol 2019 Apr 3;854:79-91. Epub 2019 Apr 3.

Department of Critical Care Medicine and Orthopedics, The First Affiliated Hospital, Zhejiang University, School of Medicine, Hangzhou City, 310009, China. Electronic address:

Acute lung injury (ALI) and acute respiratory distress syndrome are life-threatening conditions that still have no definite pharmacotherapy. Hence, we investigate the potential effectiveness and underlying mechanism of CT-133, a newly developed selective antagonist of prostaglandin D2 receptor 2 (DP2) or of chemoattractant receptor homologous molecule expressed on Th2 cells (CRTH2), against lipopolysaccharide (LPS)-induced ALI. CT-133 (10 or 30 mg/kg) or dexamethasone (1 mg/kg, positive control) were intragastrically administered 1 h before and 12 h after intratracheal LPS instillation, and primary neutrophils and macrophages and RAW264. Read More

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http://dx.doi.org/10.1016/j.ejphar.2019.03.053DOI Listing
April 2019
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Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients.

PLoS One 2019 5;14(4):e0211575. Epub 2019 Apr 5.

Department of Neurology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.

People with Down syndrome (DS) are at high risk of developing Alzheimer disease (AD) with aging. The diagnosis and treatment trials are hampered by a lack of reliable blood biomarkers. Plasma neurofilament light chain (NfL) is one of the established biomarkers of AD, suggesting that it may be useful as an indicator of dementia in DS patients. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211575PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450630PMC
April 2019
7 Reads

Comparing parental stress of children with neurodevelopmental disorders: The case of Williams syndrome, Down syndrome and autism spectrum disorders.

J Appl Res Intellect Disabil 2019 Apr 5. Epub 2019 Apr 5.

Department of Psychology, Kingston University London, Kingston upon Thames, UK.

Background: Although parental stress is higher for children with neurodevelopmental disorders (NDs), it is unclear how this stress compares to more common NDs. The current study compared stress in parents of children with Williams syndrome (WS), Down syndrome (DS) and autism spectrum disorders (ASD). The impact of individual and contextual factors was also explored. Read More

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http://dx.doi.org/10.1111/jar.12594DOI Listing
April 2019
2 Reads

Physical fitness is predictive for 5-year survival in older adults with intellectual disabilities.

J Appl Res Intellect Disabil 2019 Apr 5. Epub 2019 Apr 5.

Department of General Practice, Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Background: The very low physical fitness levels of people with intellectual disabilities (ID) may influence their life expectancy. Therefore, we investigated the predictive value of physical fitness for survival in older adults with intellectual disabilities.

Method: In the Healthy Ageing and Intellectual Disabilities (HA-ID) study,the physical fitness levels of 900 older adults (≥50 years; 61. Read More

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http://dx.doi.org/10.1111/jar.12589DOI Listing