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    The crustin-like peptide plays opposite role in shrimp immune response to Vibrio alginolyticus and white spot syndrome virus (WSSV) infection.
    Fish Shellfish Immunol 2017 May 22. Epub 2017 May 22.
    College of Animal Science and Technology, Zhejiang Agriculture and Forestry University, Hangzhou 311300, China. Electronic address:
    Crustin is an antimicrobial peptide (AMP) that plays a key role in innate immunity of crustaceans. In this study, we cloned the entire 660 bp crustin-like sequence with a 507 bp open reading frame encoding a 168 amino acid from Marsupenaeus japonicus. The crustin-like gene was primarily expressed in gills and over-expressed in shrimp hemocytes after challenge with WSSV or Vibrio alginolyticus. Read More

    Emotion Recognition in Adolescents with Down Syndrome: A Nonverbal Approach.
    Brain Sci 2017 May 23;7(6). Epub 2017 May 23.
    Research Center in Psychology: Cognition, Psyche and Organizations, University of Picardie Jules Verne, 80025 Amiens, France.
    Several studies have reported that persons with Down syndrome (DS) have difficulties recognizing emotions; however, there is insufficient research to prove that a deficit of emotional knowledge exists in DS. The aim of this study was to evaluate the recognition of emotional facial expressions without making use of emotional vocabulary, given the language problems known to be associated with this syndrome. The ability to recognize six emotions was assessed in 24 adolescents with DS. Read More

    Behavior and adaptive functioning in adolescents with Down syndrome: specifying targets for intervention.
    J Ment Health Res Intellect Disabil 2014 3;7(4):287-305. Epub 2014 Oct 3.
    Department of Psychology, University of Cincinnati, Cincinnati Ohio.
    Background: Research suggests that adolescents with Down syndrome experience increased behavior problems as compared to age matched peers; however, few studies have examined how these problems relate to adaptive functioning. The primary aim of this study was to characterize behavior in a sample of adolescents with Down syndrome using two widely-used caregiver reports: the Behavioral Assessment System for Children, 2(nd) Edition (BASC-2) and Child Behavioral Checklist (CBCL). The clinical utility of the BASC-2 as a measure of behavior and adaptive functioning in adolescents with Down syndrome was also examined. Read More

    A tumor profile in Patau syndrome (trisomy 13).
    Am J Med Genet A 2017 May 25. Epub 2017 May 25.
    Support Organization for Trisomy 18, 13 and Related Disorders - Surgery Registry (SOFT-SR) Rochester, Rochester, New York.
    Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Read More

    Obstructive sleep apnea in Down syndrome: Benefits of surgery and noninvasive respiratory support.
    Am J Med Genet A 2017 May 24. Epub 2017 May 24.
    AP-HP, Hôpital Necker-Enfants Malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.
    Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. Read More

    Use of active video gaming in children with neuromotor dysfunction: a systematic review.
    Dev Med Child Neurol 2017 May 19. Epub 2017 May 19.
    Department of Kinesiology and Nutrition Sciences, University of Nevada, Las Vegas, NV, USA.
    Aim: To examine current evidence on use of active video gaming (AVG) to improve motor function in children with movement disorders including cerebral palsy, developmental coordination disorder, and Down syndrome.

    Method: Scopus, MEDLINE, Cochrane Library, EMBASE, and CINAHL were searched. Included papers studied the use of AVG for improving movement-related outcomes in these populations. Read More

    Protein-Losing Enteropathy as a Complication of the Ketogenic Diet.
    Yonsei Med J 2017 Jul;58(4):891-893
    Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
    The ketogenic diet is an effective treatment for the patients with intractable epilepsy, however, the diet therapy can sometimes be discontinued by complications. Protein-losing enteropathy is a rarely reported serious complication of the ketogenic diet. We present a 16-month-old Down syndrome baby with protein-losing enteropathy during the ketogenic diet as a treatment for West syndrome. Read More

    Overexpression of the DYRK1A Gene (Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1A) Induces Alterations of the Serotoninergic and Dopaminergic Processing in Murine Brain Tissues.
    Mol Neurobiol 2017 May 25. Epub 2017 May 25.
    Université Paris Diderot, Sorbonne Paris Cité, Unité de Biologie Fonctionnelle et Adaptative (BFA), CNRS UMR 8251, F-75205, Paris, France.
    Trisomy 21 (T21) or Down syndrome (DS) is the most common genetic disorder associated with intellectual disability and affects around 5 million persons worldwide. Neuroanatomical phenotypes associated with T21 include slight reduction of brain size and weight, abnormalities in several brain areas including spines dysgenesis, dendritic morphogenesis, and early neuroanatomical characteristics of Alzheimer's disease. Monoamine neurotransmitters are involved in dendrites development, functioning of synapses, memory consolidation, and their levels measured in the cerebrospinal fluid, blood, or brain areas that are modified in individuals with T21. Read More

    Physical Activity Patterns in Infants With and Without Down Syndrome.
    Pediatr Phys Ther 2017 May 19. Epub 2017 May 19.
    School of Kinesiology, University of Michigan, Ann Arbor, Michigan.
    Purpose: Individuals with Down syndrome (DS) are at greater risk for obesity than their peers who are developing typically. One factor contributing to an early onset of obesity is low levels of physical activity (PA). However, there is little known regarding PA patterns during infancy. Read More

    Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome.
    J Genet Couns 2017 May 24. Epub 2017 May 24.
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
    Research studies focusing on parents' perspectives of pharmacological clinical trials have not kept pace with the number of emerging pharmacologic clinical trials in Down syndrome (DS) and Fragile X syndrome (FXS). Since individuals with DS or FXS have limited cognitive ability to make decisions about their participation in clinical trials, it is important to consider the parents' perspectives and explore the ways in which decisions are made for their children. Using a semi-structured interview, we enrolled 9 parents of a child(ren) with FXS and 15 with a child with DS to analyze their views, experiences, and knowledge of pharmacological clinical trials. Read More

    Predicted body weight relationships for protective ventilation - unisex proposals from pre-term through to adult.
    BMC Pulm Med 2017 May 23;17(1):85. Epub 2017 May 23.
    ResMed Science Center, ResMed Ltd, 1 Elizabeth Macarthur Drive, Bella Vista, 2153, Sydney, Australia.
    Background: The lung-protective ventilation bundle has been shown to reduce mortality in adult acute respiratory distress syndrome (ARDS). This concept has expanded to other areas of acute adult ventilation and is recommended for pediatric ventilation. A component of lung-protective ventilation relies on a prediction of lean body weight from height. Read More

    Gait initiation and termination strategies in patients with Prader-Willi syndrome.
    J Neuroeng Rehabil 2017 May 23;14(1):44. Epub 2017 May 23.
    Orthopaedic Rehabilitation Unit and Clinical Lab for Gait Analysis and Posture, Ospedale San Giuseppe, Istituto Auxologico Italiano, IRCCS, Via Cadorna 90, I-28824, Piancavallo (VB), Italy.
    Background: Gait Initiation (GI) is a functional task representing one of the first voluntary destabilizing behaviours observed in the development of a locomotor pattern as the whole body centre of mass transitions from a large to a small base of support. Conversely, Gait Termination (GT) consists in the transition from walking to standing which, in everyday life, is a very common movement. Compared to normal walking, it requires higher control of postural stability. Read More

    The effectiveness of the computerized visual perceptual training program on individuals with Down syndrome: An fMRI study.
    Res Dev Disabil 2017 May 20;66:1-15. Epub 2017 May 20.
    Department of Occupational Therapy, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. Electronic address:
    This study investigated the effectiveness of the Computerized Visual Perception Training (CVPT) program on individuals with Down syndrome (DS, mean age=13.17±4.35years, age range: 6. Read More

    Colocalization of receptors for Shiga toxins with lipid rafts in primary human renal glomerular endothelial cells and influence of D-PDMP on synthesis and distribution of glycosphingolipid receptors.
    Glycobiology 2017 May 23. Epub 2017 May 23.
    Institute for Hygiene, University of Münster, D-48149 Münster, Germany.
    Damage of human renal glomerular endothelial cells (HRGECs) of the kidney represents the linchpin in the pathogenesis of the hemolytic uremic syndrome (HUS) caused by Shiga toxins (Stxs) of enterohemorrhagic Escherichia coli (EHEC). We performed a comprehensive structural analysis of the Stx receptor glycosphingolipids (GSLs) globotriaosylceramide (Gb3Cer, Galα4alβ4Glcβ1Cer) and globotetraosylceramide (Gb4Cer, GalNAcβ3Galα4Galβ4Glcβ1Cer) and their distribution in lipid raft analogue detergent-resistant membranes (DRMs) and nonDRMs prepared from primary HRGECs. Predominant receptor lipoforms were Gb3Cer and Gb4Cer with Cer (d18:1, C16:0), Cer (d18:1, C22:0) and Cer (d18:1, C24:1/C24:0). Read More

    Effect of a counseling-supported treatment with the Mediterranean diet and physical activity on the severity of the non-alcoholic fatty liver disease.
    World J Gastroenterol 2017 May;23(17):3150-3162
    Chiara Gelli, Laura Di Renzo, Antonino De Lorenzo, Division of Clinical Nutrition and Nutrigenomics, Department of Biomedicine and Prevention, University of Rome "Tor Vergata", 0133 Rome, Italy.
    Aim: To determine the clinical effectiveness of nutritional counseling on reduction of non-alcoholic fatty liver disease (NAFLD) severity, weight loss, metabolic and anthropometric indexes and liver enzymes.

    Methods: Forty-six adults with NAFLD received a 6-mo clinical and a dietary intervention (based on Mediterranean diet) carried out respectively by a gastroenterologist and a nutritionist with counseling license. The counseling process consisted of monthly meeting (about 45 min each). Read More

    Artesunate and erythropoietin synergistically improve the outcome of experimental cerebral malaria.
    Int Immunopharmacol 2017 May 19;48:219-230. Epub 2017 May 19.
    Department of Entomology, Pennsylvania State University, University Park, PA 16802, USA.
    Cerebral malaria (CM) is a severe neurological syndrome in humans and the main fatal cause of malaria. In malaria epidemic regions, despite appropriate anti-malarial treatment, 10-20% of deaths still occur during the acute phase. This is largely attributable to poor treatment access, therapeutic complexity and drug resistance; thus, developing additional clinical adjunctive therapies is an urgent necessity. Read More

    [THE EFFECT OF DOWN SYNDROME ON TEETH AND JAWS DEVELOPMENT - THE FIRST CASE REPORT ON DENTAL IMPLANTS WITH 15 YEARS FOLLOW-UP].
    Harefuah 2016 Aug;155(8):463-465
    Pediatric Dental Clinic, Barzilai Medical Center, Ashkelon, Israel.
    Introduction: Down syndrome presents dentists with several treatment problems due to hereditary olygodontia of permanent teeth, abnormal development of the midface causing small maxilla and class III occlusion, abnormal mineralization of teeth, reduced bone density and hypotony. The challenge of replacing missing permanent teeth was the trigger for the development of dental implants some 30 years ago. However, the abnormal development of jaw bones and the reverse occlusion caused concerns in the dental community regarding the possibility of using dental implants in Down syndrome patients. Read More

    The use of stomas in the early management of Hirschsprung's disease: Findings of a national, prospective cohort study.
    J Pediatr Surg 2017 May 11. Epub 2017 May 11.
    Department of Paediatric Surgery, The Royal Hospital for Children, 1345 Govan Rd, Glasgow, G51 4TF, UK.
    Background/purpose: Primary pull-through without a stoma has become preferred practice in managing Hirschsprung's disease (HD). The aims of this study were to establish stoma rate and identify factors associated with stoma formation in a population-based cohort in the UK and Ireland.

    Methods: Live-born infants with HD were prospectively identified in all 28 specialist pediatric surgical units in the UK and Ireland between October 2010 to September 2012. Read More

    Magnesium isoglycyrrhizinate blocks fructose-induced hepatic NF-κB/NLRP3 inflammasome activation and lipid metabolism disorder.
    Eur J Pharmacol 2017 May 17. Epub 2017 May 17.
    State Key Laboratory of Pharmaceutical Biotechnology, School of Life Sciences, Nanjing University, Nanjing 210023, PR China. Electronic address:
    Magnesium isoglycyrrhizinate as a hepatoprotective agent possesses immune modulation and anti-inflammation, and treats liver diseases. But its effects on immunological-inflammatory and metabolic profiles for metabolic syndrome with liver injury and underlying potential mechanisms are not fully understood. In this study, magnesium isoglycyrrhizinate alleviated liver inflammation and lipid accumulation in fructose-fed rats with metabolic syndrome. Read More

    Aiding risk information learning through simulated experience (ARISE): Using simulated outcomes to improve understanding of conditional probabilities in prenatal Down syndrome screening.
    Patient Educ Couns 2017 Apr 26. Epub 2017 Apr 26.
    Department of Health Sciences, University of Missouri, Columbia, MO, USA; Department of Psychological Sciences, University of Missouri, Columbia, MO, USA.
    Objective: To determine whether the use of simulated experiences to communicate statistical information can improve an individual's understanding of conditional probabilities-specifically the positive predictive value (PPV) of prenatal screening tests for Down syndrome.

    Methods: In Experiment 1 (N=64) and Experiment 2 (N=180) participants were asked to estimate the PPV of a prenatal screening test for Down syndrome based on either (1) explicit statistics regarding the prevalence of Down syndrome and the sensitivity and specificity of a prenatal screening test for Down syndrome, or (2) experiencing up to 5000 simulated test results over a short time.

    Results: Participants' estimates of the PPV were more accurate when they had learned via simulated experiences (79% accuracy) compared with estimates based on explicitly described statistics (14%). Read More

    Aquaporins 1, 3 and 8 expression in irritable bowel syndrome rats' colon via NF-κB pathway.
    Oncotarget 2017 May 2. Epub 2017 May 2.
    Department of Gastroenterology, The First Affiliated Hospital, Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.
    Objective: Our research was to detect the expression of aquaporins. NF-κB in Irritable bowel syndrome (IBS) rat models' colon so as to find novel pathogenesisof IBS.

    Results: The expression of AQP1, AQP3, and AQP8 of IBS model group was down-regulated while NF-κB p65 was up-regulated comparing with control group (p < 0. Read More

    Arrhythmia burden and related outcomes in Eisenmenger syndrome.
    Congenit Heart Dis 2017 May 19. Epub 2017 May 19.
    Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
    Background: Patients with Eisenmenger syndrome have a shorter lifespan than the general population. A significant proportion develop arrhythmia and some, sudden death.

    Objective: The aims of this study were to characterize the frequency, type and effects of arrhythmias in adult patients with Eisenmenger's syndrome and to identify risk factors for arrhythmias. Read More

    Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome.
    Sleep Med 2017 Jun 7;34:84-89. Epub 2017 Mar 7.
    Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address:
    Study Objectives: The study aimed to compare urinary biomarkers in patients with Down syndrome (DS) with and without obstructive sleep apnea (OSA) to those of age- and sex-matched neurotypically developing healthy controls (HC). We further investigated whether we could predict OSA in patients with DS using these biomarkers.

    Methods: Urine samples were collected from 58 patients with DS the night before or the morning after their scheduled overnight polysomnogram or both, of whom 47 could be age- and sex-matched to a sample of 43 HC. Read More

    The use of statins alone, or in combination with pioglitazone and other drugs, for the treatment of non-alcoholic fatty liver disease/non-alcoholic steatohepatitis and related cardiovascular risk. An Expert Panel Statement.
    Metabolism 2017 Jun 4;71:17-32. Epub 2017 Mar 4.
    Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
    Non-alcoholic fatty liver disease (NAFLD), the most common liver disease, is characterized by accumulation of fat (>5% of the liver tissue), in the absence of alcohol abuse or other chronic liver diseases. It is closely related to the epidemic of obesity, metabolic syndrome or type 2 diabetes mellitus (T2DM). NAFLD can cause liver inflammation and progress to non-alcoholic steatohepatitis (NASH), fibrosis, cirrhosis or hepatocellular cancer (HCC). Read More

    Babbling in children with neurodevelopmental disability and validity of a simplified way of measuring canonical babbling ratio.
    Clin Linguist Phon 2017 May 19:1-14. Epub 2017 May 19.
    a Division of Speech and Language Pathology, Department of Clinical Science , Intervention and Technology, Karolinska Institutet , Stockholm , Sweden.
    Babbling is an important precursor to speech, but has not yet been thoroughly investigated in children with neurodevelopmental disabilities. Canonical babbling ratio (CBR) is a commonly used but time-consuming measure for quantifying babbling. The aim of this study was twofold: to validate a simplified version of the CBR (CBR(UTTER)), and to use this measure to determine if early precursors to speech and language development could be detected in children with different neurodevelopmental disabilities. Read More

    Mid-term outcomes in unbalanced complete atrioventricular septal defect: role of biventricular conversion from single-ventricle palliation†.
    Eur J Cardiothorac Surg 2017 May 18. Epub 2017 May 18.
    Department of Cardiac Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
    Objectives: Management strategy for unbalanced complete atrioventricular septal defects (CASVSDs) includes single-ventricle (SV) palliation and primary or staged biventricular (BiV) repair. More recently, BiV conversion (BiVC) from SV palliation and staged BiV recruitment (BiVR) have also been advocated. This study assesses mid-term outcomes in patients with unbalanced CASVSDs according to management strategy. Read More

    Salivary biomarkers and proteomics: future diagnostic and clinical utilities.
    Acta Otorhinolaryngol Ital 2017 Apr;37(2):94-101
    Department of Head and Neck Surgery, "A. Gemelli" Hospital Foundation, Catholic University, Rome, Italy.
    Saliva testing is a non-invasive and inexpensive test that can serve as a source of information useful for diagnosis of disease. As we enter the era of genomic technologies and -omic research, collection of saliva has increased. Recent proteomic platforms have analysed the human salivary proteome and characterised about 3000 differentially expressed proteins and peptides: in saliva, more than 90% of proteins in weight are derived from the secretion of three couples of "major" glands; all the other components are derived from minor glands, gingival crevicular fluid, mucosal exudates and oral microflora. Read More

    Fetal intra abdominal umbilical vein varix: Case series and review of literature.
    Indian J Radiol Imaging 2017 Jan-Mar;27(1):59-61
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
    Fetal intraabdominal umbilical vein varix (FIUV) is focal dilatation of the intrabdominalumbilical vein of thefetus. It appears as a round or fusiform cystic structure in thefetal abdomen, which shows continuity with the umbilical vein ongrayscale andcolor Dopplerimaging. The diagnostic criteria include the FIUV varix diameter at least 50% wider than the diameter of the intrahepatic umbilical veinand an intraabdominal umbilical vein diameter exceeding 9 mm orgreater than twostandard deviations above the mean for gestational age. Read More

    Role of microRNA-130a in the pathogeneses of obstructive sleep apnea hypopnea syndrome-associated pulmonary hypertension by targeting the GAX gene.
    Medicine (Baltimore) 2017 May;96(20):e6746
    aDepartment of Cardiology, China-Japan Union Hospital of Jilin University bDepartment of Breast Surgery, The Second Hospital of Jilin University cDepartment of Molecular Biology, College of Basic Medical Sciences, Jilin University dDepartment of Respiratory Medicine, the Second Hospital of Jilin University eDepartment of Ophthalmology, The Second Hospital of Jilin University, Changchun, Jilin, P.R. China.
    Objective: The purpose of this study was to elucidate the role of microRNA-130a (miR-130a) in obstructive sleep apnea hypopnea syndrome (OSAHS)-associated pulmonary hypertension (PHT) by targeting the growth arrest-specific homeobox (GAX) gene.

    Methods: A total of 108 patients with OSAHS-associated PHT were recruited as the OSAHS-associated PHT group and 110 healthy individuals were randomly selected as the normal control group. Human umbilical vein endothelial cells (HUVECs) were selected and divided into the control, miR-130a mimic, mimic negative control (NC), miR-130a inhibitor, and inhibitor-NC groups. Read More

    Hippocampal overexpression of Down syndrome cell adhesion molecule in amyloid precursor protein transgenic mice.
    Braz J Med Biol Res 2017 May 15;50(6):e6049. Epub 2017 May 15.
    Department of Neurology, the First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan Province, China.
    Down syndrome cell adhesion molecule (DSCAM) is located within the Down syndrome critical region of chromosome 21. DSCAM is a broadly expressed neurodevelopmental protein involved in synaptogenesis, neurite outgrowth, and axon guidance. We previously demonstrated DSCAM overexpression in the cortex of amyloid precursor protein (APP) transgenic mice, suggesting possible regulatory interactions between APP and DSCAM. Read More

    POSEIDON - Bringing Assistive Technology to People with Down Syndrome: Results of a Three Year European Project.
    Stud Health Technol Inform 2017 ;236:169-175
    Berlin Institute for Social Research, Germany.
    The POSEIDON project aimed to increase the independence and autonomy of people with Down syndrome with the help of technical assistants. It followed a user-centered approach by involving people with Down syndrome and their parents, carers etc. A requirement analysis was the first step of the project. Read More

    Epidermal growth factor receptor-mutant lung cancer in Down syndrome: a case presentation and review of the literature.
    Oncotarget 2017 Apr 25. Epub 2017 Apr 25.
    Department of Medical Oncology, Guangdong General Hospital & Guangdong Academy of Medical Sciences, Guangzhou, China.
    Background: Solid tumors have a markedly decreased incidence in individuals with Down syndrome (DS), including lung cancers.

    Methods: The clinical presentation of epidermal growth factor receptor (EGFR)-mutant non-small-cell lung cancer (NSCLC) in DS was reported and literature on the subject reviewed.

    Results: In individuals with DS, the risk of lung cancer appears markedly lower. Read More

    Brief Report: Contrasting Profiles of Everyday Executive Functioning in Smith-Magenis Syndrome and Down Syndrome.
    J Autism Dev Disord 2017 May 12. Epub 2017 May 12.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.
    Everyday executive function (EF) was examined in Smith-Magenis syndrome (SMS), associated with high risk of behaviour disorder, and Down syndrome (DS), associated with relatively low risk of behaviour disorder. Caregivers of 13 children with SMS and 17 with DS rated everyday EF using the Behavioral Rating Inventory of Executive Functioning-Preschool. Greater everyday EF deficits relative to adaptive ability were evident in SMS than in DS. Read More

    SAPHO, autophagy, IL-1, FoxO1, and Propionibacterium (Cutibacterium) acnes.
    Joint Bone Spine 2017 May 9. Epub 2017 May 9.
    Rheumatology Unit, CHU Ambroise Paré, AP-HP, 9 Avenue Charles de Gaulle, 92100 Boulogne-Billancourt.
    Overt infection by Propionibacterium acnes is lacking in many SAPHO syndromes, and antibiotics have only a transient and incomplete effect, either in SAPHO syndrome or acne. As several auto-inflammatory bone disorders sharing over-production of IL-1β can mimic SAPHO, this syndrome could partly depend on genetically encoded overproduction of IL-1β. However, cyclic intracellular infections, mostly by P. Read More

    Atorvastatin reduces cardiac and adipose tissue inflammation in rats with metabolic syndrome.
    Int J Cardiol 2017 May 4. Epub 2017 May 4.
    Department of Pathophysiological Laboratory Sciences, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address:
    Background: Statins are strong inhibitors of cholesterol biosynthesis and help to prevent cardiovascular disease. They also exert additional pleiotropic effects that include an anti-inflammatory action and are independent of cholesterol, but the molecular mechanisms underlying these additional effects have remained unclear. We have now examined the effects of atorvastatin on cardiac and adipose tissue inflammation in DahlS. Read More

    Quercetin ameliorates imiquimod-induced psoriasis-like skin inflammation in mice via the NF-κB pathway.
    Int Immunopharmacol 2017 May 9;48:110-117. Epub 2017 May 9.
    Second Affiliated Hospital, Guangzhou University of Chinese Medicine, Guangzhou 510115, PR China; Guangdong Provincial Hospital of Chinese Medicine, Guangzhou 510115, PR China; Guangdong Provincial Academy of Chinese Medical Sciences, Guangzhou 510006, PR China; Guangdong Provincial Key Laboratory of Clinical Research on Traditional Chinese Medicine Syndrome, Guangzhou 510115, PR China. Electronic address:
    Quercetin (QC) is a dietary flavonoid abundant in many natural plants. A series of studies have shown that it has been shown to exhibit several biological properties, including anti-inflammatory, anti-oxidant, cardio-protective, vasodilatory, liver-protective and anti-cancer activities. However, so far the possible therapeutic effect of QC on psoriasis has not been reported. Read More

    The Lateral Temporal Lobe in Early Human Life.
    J Neuropathol Exp Neurol 2017 Jun;76(6):424-438
    From the Department of Pathology, Boston Children's Hospital and Harvard Medical School (ISG, DJE, RLH, HCK); and Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, MA (LAS).
    Abnormalities of lateral temporal lobe development are associated with a spectrum of genetic and environmental pathologic processes, but more normative data are needed for a better understanding of gyrification in this brain region. Here, we begin to establish guidelines for the analysis of the lateral temporal lobe in humans in early life. We present quantitative methods for measuring gyrification at autopsy using photographs of the gross brain and simple computer-based quantitative tools in a cohort of 28 brains ranging in age from 27 to 70 postconceptional weeks (end of infancy). Read More

    The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.
    J Pediatr Genet 2017 Jun 10;6(2):107-110. Epub 2016 Nov 10.
    LewisGale Alleghany Medical Center, Low Moor, Virginia, United States.
    An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned as he was experiencing signs of developmental delay and a mild floppy tone, in addition to facial features that resembled some form of mental retardation. Read More

    A Proteomic Study of Hemocyte Proteins from Mud Crab (Scylla paramamosain) Infected with White Spot Syndrome Virus or Vibrio alginolyticus.
    Front Immunol 2017 27;8:468. Epub 2017 Apr 27.
    College of Animal Science and Technology, Zhejiang Agriculture and Forestry University, Hangzhou, China.
    In this study, we investigated the hemocytes' immune response to white spot syndrome virus (WSSV) or Vibrio alginolyticus infection at the protein level. The differential proteomes from crab hemocytes infected with WSSV or V. alginolyticus were analyzed using the isobaric tags for relative and absolute quantitation approach immediately after infection. Read More

    The impact of ocular hemodynamics and intracranial pressure on intraocular pressure during acute gravitational changes.
    J Appl Physiol (1985) 2017 May 11:jap.00102.2017. Epub 2017 May 11.
    Georgia Institute of Technology
    Exposure to microgravity causes a bulk fluid shift toward the head, with concomitant changes in blood volume/pressure, intraocular pressure (IOP), and intracranial pressure (ICP). These and other factors are thought to contribute to Visual Impairment and Intracranial Pressure syndrome, a significant health concern for astronauts, characterized by degradation of visual function and ocular anatomical changes. Here we describe a lumped-parameter numerical model to simulate volume/pressure alterations in the eye during gravitational changes. Read More

    Systemic inflammatory response syndrome-related lymphopenia is associated with adenosine A1 receptor dysfunction.
    J Leukoc Biol 2017 May 11. Epub 2017 May 11.
    Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev and Soroka University Medical Center, Beer-Sheva, Israel;
    SIRS is associated with lymphopenia, and prolonged lymphopenia of septic patients has been associated with increased mortality risk. We hypothesize that elevated adenosine during SIRS down-regulates Gi-coupled A1R, which signals an effect that sensitizes a cAMP-dependent lymphotoxic response. In this study, we evaluate the role of adenosine in SIRS-mediated lymphopenia and impaired IL-15 production. Read More

    [Current status and perspectives of diagnosis and treatment of complications related to liver cirrhosis].
    Zhonghua Gan Zang Bing Za Zhi 2017 Apr;25(4):241-245
    Department of Traditional and Western Medical Hepatology, Third Hospital of Hebei Medical University, Shijiazhuang 050051, China.
    Liver cirrhosis is the severe period of chronic liver diseases, especially decompensated liver cirrhosis and its complications, such as ascites, esophagogastric variceal bleeding, hepatic encephalopathy, acute kidney injury, and hepatocellular carcinoma, which greatly affect patients' quality of life and even threaten their lives. Early prevention and treatment of the causes of development and progression and pathogenic mechanism may slow down or reverse liver cirrhosis and its severe complications. Once the disease progresses to portal hypertension and related complications, it is very important to select preventive measures for acute exacerbation of different complications, as well as the methods and timing for treatment in acute stage, which may help to save patients' lives and improve their prognosis. Read More

    Neuron-specific knockdown of the Drosophila fat induces reduction of life span, deficient locomotive ability, shortening of motoneuron terminal branches and defects in axonal targeting.
    Genes Cells 2017 May 9. Epub 2017 May 9.
    Department of Applied Biology, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto, 606-8585, Japan.
    Mutations in FAT4 gene, one of the human FAT family genes, have been identified in Van Maldergem syndrome (VMS) and Hennekam lymphangiectasia-lymphedema syndrome (HS). The FAT4 gene encodes a large protein with extracellular cadherin repeats, EGF-like domains and Laminin G-like domains. FAT4 plays a role in tumor suppression and planar cell polarity. Read More

    Vocalization patterns in young children with Down syndrome: Utilizing the language environment analysis (LENA) to inform behavioral phenotypes.
    J Intellect Disabil 2017 Jan 1:1744629517708091. Epub 2017 Jan 1.
    Texas Tech University, USA.
    Children with Down syndrome (DS) are at higher risk for both delayed expressive language and poor speech intelligibility. The current study utilized the quantitative automated language environment analysis (LENA) to depict mother and child vocalizations and conversational patterns in the home of 43 children with DS, chronologically aged 24-64 months. Children with DS displayed fewer utterances than typically developing children; however, there was wide variability. Read More

    Consensus statement of the International Summit on Intellectual Disability and Dementia related to end-of-life care in advanced dementia.
    J Appl Res Intellect Disabil 2017 May 9. Epub 2017 May 9.
    University of Illinois at Chicago, Chicago, IL, USA.
    Background: Adults with intellectual disability are affected by dementia at equivalent and elevated rates, many surviving into advanced age. End of life care and support considerations come into play among these individuals when most are in the advanced stage of dementia.

    Methods: A preliminary report summarizing available literature and making initial recommendations was developed by a workgroup, reviewed by all conference participants and then was finalized by the workgroup. Read More

    The Efficacy of Adenotonsillectomy for Obstructive Sleep Apnea in Children with Down Syndrome: A Systematic Review.
    Otolaryngol Head Neck Surg 2017 May 1:194599817703921. Epub 2017 May 1.
    1 Otolaryngology/Head and Neck Surgery, Rady Children's Hospital San Diego/University of California, San Diego, San Diego, California, USA.
    Objective Determine the efficacy of adenotonsillectomy in children with Down syndrome. Data Sources Databases included PubMed, EMBASE, CINAHL, and Google Scholar. The search was inclusive of all references available through January 5, 2017. Read More

    Wsv023 interacted with Litopenaeus vannamei γ-tubulin complex associated proteins 2, and decreased the formation of microtubules.
    R Soc Open Sci 2017 Apr 26;4(4):160379. Epub 2017 Apr 26.
    Guangdong Provincial Key Laboratory of Marine Resources and Coastal Engineering, South China Sea Bio-Resource Exploitation and Protection Collaborative Innovation Center (SCS-REPIC), School of Marine Sciences, Sun Yat-sen University, 135 Xingang Road West, Guangzhou 510275, People's Republic of China.
    A previous study found the key transcription factor of Litopenaeus vannamei PERK-eIF2α pathway cyclic AMP-dependent transcription factor 4 (LvATF4) was involved in the transcriptional regulation of white spot syndrome virus (WSSV) gene wsv023. Knocked-down expression of LvATF4 reduced the viral copy number and the cumulative mortality of WSSV-infected shrimp. These results suggested that wsv023 may be critical to WSSV infection but the precise function of wsv023 was still unknown. Read More

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