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Nández Ramiro R Department of Cell Biology, Yale University School of Medicine, New Haven, United - - 2014
Mutations in the inositol 5-phosphatase OCRL cause Lowe syndrome and Dent's disease. Although OCRL, a direct clathrin interactor, is recruited to late-stage clathrin-coated pits, clinical manifestations have been primarily attributed to intracellular sorting defects. Here we show that OCRL loss in Lowe syndrome patient fibroblasts impacts clathrin-mediated endocytosis and results ...
Zweier Christiane - - 2014
Recently, de novo aberrations in PHF6 were identified in females with intellectual disability and with a distinct phenotype including a characteristic facial gestalt with bitemporal narrowing, prominent supraorbital ridges, synophrys, a short nose and dental anomalies, tapering fingers with brachytelephalangy, clinodactyly and hypoplastic nails, short toes with hypoplastic nails, and ...
Otoshi Kenichi K Department of Orthopaedic Surgery, Fukushima Medical University School of Medicine, Fukushima, Japan. Electronic address: - - 2014
Kyphosis is a cause of scapular dyskinesis, which can induce various shoulder disorders, including subacromial impingement syndrome (SIS). This study aimed to clarify the impact of kyphosis on SIS with use of cross-sectional data from the Locomotive Syndrome and Health Outcome in Aizu Cohort Study (LOHAS). The study enrolled 2144 ...
Gomez Rapson - - 2014
The current study used confirmatory factor analysis (CFA), latent profile analysis (LPA), and factor mixture modeling (FMM) to examine the co-occurrence of the childhood syndromes using the Child Behavior Checklist (CBCL) and Teacher Report Form (TRF). Parents and teachers completed the CBCL and TRF, respectively, for a clinic-referred sample of ...
Frugé Andrew D AD 1 Department of Food Science, Nutrition and Health Promotion, Mississippi State University , Mississippi State, - - 2014
Abstract Background: The goal of this study was to examine the relationship between macronutrient and micronutrient intake and metabolic syndrome within race and gender cohorts of young US adults. Methods: The 2007-2010 National Health and Nutrition Examination Survey (NHANES) data for adults (n=2440) aged 20-59 were analyzed. Two 24-hr dietary ...
Kongsted Hanne - - 2014
The epidemiology of New Neonatal Porcine Diarrhoea Syndrome (NNPDS) was studied in four selected herds. A total of 941 new born piglets in 86 litters were evaluated for five consecutive days. NNPDS is a newly emerged syndrome, characterized by diarrhoea within the first week of life, which is un-responsive to ...
Lagranja Elena Sofía ES Doctoral Program in Nutrition, Faculty of Medical Sciences, National University of Córdoba , Argentina - - 2014
Abstract Background: The health problems associated with rapidly changing lifestyles in indigenous populations, e.g. cardiovascular disease, are becoming a public health concern. Aim: The objective of this study was to evaluate the prevalence of metabolic syndrome and analyse the metabolic conditions that define this syndrome, in an indigenous Toba community ...
Damasceno Marcelo Loquette ML Department of Orthopaedics and Traumatology, Spine Surgery Division, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (IOT-HCFMUSP), São Paulo, SP, - - 2014
This study assessed the prevalence of scoliosis and the patterns of scoliotic curves in patients with Williams-Beuren syndrome. Williams-Beuren syndrome is caused by a chromosome 7q11.23 deletion in a region containing 28 genes, with the gene encoding elastin situated approximately at the midpoint of the deletion. Mutation of the elastin ...
Rhee Sang Jin SJ Department of Psychiatry, Seoul National University Hospital, Yongon-Dong, Chongno-Gu, Seoul 110-744, Republic of - - 2014
The evidence of the association between depression and metabolic syndrome is increasing, but the existence of sex differences in this association remains controversial. The aim of this study was to investigate the association between subjective depressive symptoms and metabolic syndrome and each of its components by sex in the Korean ...
Klingström Jonas J Center for Infectious Medicine, Department of Medicine, Karolinska University Hospital Huddinge, Karolinska Institutet, Stockholm, - - 2014
Hemorrhagic fever with renal syndrome (HFRS) is a severe acute disease. While long-term consequences to public health have been reported, no association to cancer is known. We examined the risk of cancer development after HFRS in the Swedish population between 1997-2011 (n=6582) and report a 73% increased risk for lymphoma.
Gaum Petra M PM Institute for Occupational Medicine, RWTH Aachen University, Germany. Electronic address: - - 2014
Mental disorders were often reported following hazardous substance exposure. The present study analyses this association in relation to a work-related exposure to PCBs (polychlorinated biphenyls). Specifically, the aim was to investigate (a) the relationship of inner PCB burden and the severity of mental symptoms and (b) the prevalence and incidence ...
López Herrera Helena H UNIBE (Costa - - 2014
Background: Burnout syndrome is a highly prevalent disorder in a wide range of professional groups, and is associated with substantial psychophysiological alterations. Nevertheless, this syndrome has not been analyzed in depth among the clergy, a group which fulfils a fundamental social function and has to deal with numerous stressors that ...
Zampini Laura L Department of Psychology, University of Milano-Bicocca , Milan , - - 2014
Abstract This study aimed to assess the communicative skills of children and young adults with ring 14 syndrome and linear 14q deletions, investigating the relationships among their language development and their genetic, clinical, psychomotor and behavioural characteristics. Participants were 36 individuals with chromosome 14 aberrations whose parents completed a questionnaire, ...
Jackson Claire C Michael Rutter Centre, Maudsley Hospital, London, - - 2014
It is estimated that around 50-90% of people with learning disabilities experience difficulties in communicating. Previous research has linked communication difficulties and self-esteem in other populations, yet this relationship has not previously been investigated for people with Down syndrome. To explore the relationship between communication and self-esteem in adults with ...
Titchener Andrew G AG Department of Trauma and Orthopaedics, Royal Derby Hospital, Derby, UK. Electronic address: - - 2014
Rotator cuff disease is a common condition in the general population, but relatively little is known about its associated risk factors. We have undertaken a large case-control study using The Health Improvement Network database to assess and to quantify the relative contributions of some constitutional and environmental risk factors for ...
Zhang Wei-Hong WH Department of Basic Medicine, Nursing College, Zhengzhou University, Zhengzhou, - - 2014
Background: The present study aimed to estimate the up-to-date prevalence of metabolic syndrome and its relationship with physical activity among suburban adults in Beijing, China. Methods: A cross-sectional survey in a representative sample of 19,003 suburban adults aged 18-76 years was carried out in 2007-2008. Data was collected via questionnaires ...
Guallar-Castillón Pilar P Departamento de Medicina Preventiva y Salud Pública, Facultad de Medicina, Universidad Autónoma de Madrid/IdiPaz, CIBER de Epidemiología y Salud Pública, CIBERESP, Madrid, - - 2014
Few studies in Spain have reported the distribution of metabolic syndrome using the harmonized definition and that of premorbid metabolic syndrome, which consists of metabolic syndrome without diabetes mellitus or cardiovascular disease. Moreover, their regional distributions and clinical management are unknown. The present study examined the distributions and clinical management ...
Veerasamy Murugapathy M 1Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom 2Cardiothoracic Centre, Freeman Hospital, Newcastle upon Tyne, United Kingdom 3Institute of Ageing and Health, Newcastle University, Newcastle upon Tyne, United - - 2014
Ischemic heart disease is the leading cause of mortality worldwide. Due to advances in medicine in the last few decades, life expectancy has increased resulting in an aging population in developed and developing countries. Acute coronary syndrome causes greater morbidity and mortality in this group of older patients, which appears ...
Yang Fan F Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Sichuan, P. R. China; Department of Endocrinology and Metabolism, Affiliated Hospital of Guilin Medical University, Guangxi, P. R. - - 2014
To determine whether fasting plasma Dipeptidyl Peptidase 4 (DPP4) activity and active Glucagon-Like Peptide-1 (GLP-1) were predictive of the onset of metabolic syndrome. A prospective cohort study was conducted of 2042 adults (863 men and 1,179 women) aged 18-70 years without metabolic syndrome examined in 2007(baseline) and 2011(follow-up). Baseline plasma ...
Magalhães P P Department of Physiology, Faculty of Medicine, University Agostinho Neto, Luanda, - - 2014
Estimates of the prevalence of the metabolic syndrome in Africans may be inconsistent due to lack of African-specific cut-off values of waist circumference (WC). This study determined the prevalence of the metabolic syndrome and defined optimal values of WC in Africans. This cross-sectional study collected demographic, anthropometric and clinical data ...
Pikora Terri J TJ Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, - - 2014
To examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the impact of these conditions upon their lives. Using questionnaire data collected in 2011 from parents of young adults with Down syndrome we investigated the medical conditions experienced by their ...
Ribeiro Vivian F VF Departamento de Medicina, Disciplina de Cardiologia, UNIFESP, Rua Sena Madureira, 1500 - 5° andar, São Paulo, SP 04021-001, - - 2014
Burnout syndrome can be defined as long-term work stress resulting from the interaction between constant emotional pressure associated with intense interpersonal involvement for long periods of time and personal characteristics. We investigated the prevalence/propensity of Burnout syndrome in clinical nurses, and the factors related to Burnout syndrome-associated such as socio-demographic ...
Faia Lisa J LJ Department of Ophthalmology, Oakland University William Beaumont School of Medicine, Rochester, MI 48309, USA ; Retina and Uveitis, Associated Retinal Consultants, P.C., Royal Oak, MI 48073, - - 2014
Inflammatory conditions that affect the posterior pole are diverse. Specifically, birdshot chorioretinopathy and the white dot syndromes present with multiple white dots in the fundus. These diseases appear to affect similar age groups but there is question as to whether or not a difference exists between the genders. This review ...
Patel Ruchika R Division of Rheumatology, University of Pennsylvania, Philadelphia, PA, - - 2014
Sjögren's syndrome is a chronic systemic autoimmune disease characterized by lymphocytic infiltration of exocrine glands. It can present as an entity by itself, primary Sjögren's syndrome (pSS), or in addition to another autoimmune disease, secondary Sjögren's syndrome (sSS). pSS has a strong female propensity and is more prevalent in Caucasian ...
El Brini Otmane O Laboratory of Genetic, Neuroendocrinology and Biotechnology, University Ibn Tofail, Faculty of Sciences, Kenitra, - - 2014
Metabolic syndrome is a cluster of risk factors for diabetes and cardiovascular diseases that includes central obesity, hypertension, glucose intolerance, high triglyceride, and low high-density lipoprotein cholesterol. Its prevalence is rapidly increasing worldwide. This study aimed to estimate the prevalence of metabolic syndrome and associated risk factors in a representative ...
Stamate Cs C 1st Internal Medicine and Cardiology Department, "Sfantul Pantelimon" Clinical Emergency Hospital Bucharest ; "Carol Davila" University of Medicine and Pharmacy - - 2013
The subclinical modification of thyroid function represents an important risk factor for the development of acute coronary syndromes, neglected up to this day. Knowledge of the physiopathological processes implicated in the alteration of thyroid function that induces cardiovascular dysfunction is a necessity for the understanding of the phenomena and for ...
Vasluian Ecaterina - - 2013
Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964--1977 to 30.4/10,000 births in Scotland from 1964--1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to ...
Klusek Jessica - - 2013
This study tested the hypothesis that pragmatic (i.e., social) language impairment is linked to arousal dysregulation in autism spectrum disorder (ASD) and fragile X syndrome (FXS). Forty boys with ASD, 39 with FXS, and 27 with typical development (TD), aged 4-15 years, participated. Boys with FXS were hyperaroused compared to ...
Wilde Lucy - - 2013
This natural observation study was designed to evaluate hypothesized elevated 'attention-seeking' and preference for adult attention in Smith-Magenis syndrome. Ten children with Smith-Magenis syndrome were observed across one school day, together with an age matched sample of 10 children with Down syndrome. Levels of attention given to, and vigilance for, ...
Bakhshani Nour Mohammad - - 2013
The present study describes "Djinnati," a culture-bound syndrome and examines its prevalence and demographic attributes such as age, gender and education level in the rural population of Baluchistan in southeast Iran. In this cross-sectional study, the participants (n=4129) were recruited from people living in rural areas of Baluchistan (southeast Iran) ...
Woo Jean - - 2013
Multi-morbidity, dependency, and frailty were studied simultaneously in a community-living cohort of 4,000 men and women aged 65 years and over to examine the independent and combined effects on four health outcomes (mortality, decline in physical function, depression, and polypharmacy). The influence of socioeconomic status on these relationships is also examined. ...
Marschik Peter B - - 2013
Abstract Background and aims: This is the first study aiming to compare pre-diagnostic socio-communicative development of a female with typical Rett syndrome (RTT), a female with the preserved speech variant of RTT (PSV) and a control toddler. Methods: We analysed 1275 min of family videos at the participants' age between 9 ...
Anakwue R C RC College of Medicine, University of Nigeria Enugu Campus, Enugu, - - 2013
We report on a 21-year-old Nigerian girl with toe gangrene, which is one of the most unlikely forms of presentation of antiphospholipid syndrome among Africans. The essence of this case report is to raise awareness that, although antiphospholipid syndrome typically presents in Africans in association with a pregnancy-related event or ...
Boylan Jennifer Morozink - - 2013
Building on prior work linking high anger expression to poor health, this cross-sectional study addressed whether anger expression exacerbated age-related risk for metabolic syndrome in a national sample of adults, known as MIDUS (Midlife in the United States).Method.Respondents reported anger expression via survey assessments and completed an overnight clinic visit. ...
Lin Kuan Pin - - 2013
Depression may be a risk factor for obesity or metabolic syndrome. The aims of this study were to determine the relationships among depression, obesity, and metabolic syndrome in young adult females as well as the role of depression in the components of metabolic syndrome. A cross-sectional study was conducted on ...
Dalusung-Angosta Alona A University of Nevada, Las Vegas, 4505 Maryland Parkway, Box 453018, Las Vegas, NV 89154-3018, USA. Electronic address: - - 2013
The aims of this study are a) to examine the prevalence of metabolic syndrome among Filipino-Americans, b) to compare the rate of metabolic syndrome between Filipino men and women, and c) to examine the prevalence of central adiposity. Filipino-Americans are the second largest Asian subgroup in the United States and ...
Presson Angela P AP Department of Biostatistics, University of California Los Angeles, Los Angeles, CA; Division of Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, - - 2013
To calculate a reliable estimate of the population prevalence of Down syndrome in the US. The annual number of births of infants with Down syndrome were estimated by applying published birth prevalence rates of Down syndrome by maternal age to US data from the Centers for Disease Control and Prevention ...
Morrell Jesse Stabile - - 2013
Abstract Background: The purpose of this cross-sectional study was to examine the impact of below-average cardiovascular fitness and inactivity on the metabolic syndrome among an understudied population-undergraduate men and women, ages 18-24 years. Methods: Between January, 2010, and May, 2012, we assessed anthropometric, biochemical, and clinical measures in a convenience ...
Corbatón-Anchuelo Arturo - - 2013
Abstract Background: We aimed to investigate the prevalence of metabolic syndrome in rural and urban areas in the province of Segovia, Spain, and its relationship to lifestyle habits, cardiovascular risk, and serum adiponectin concentrations. Methods: The study had a cross-sectional design and included 888 individual residents in the province of ...
Xiao Hong - - 2013
The transmission of hemorrhagic fever with renal syndrome (HFRS) is influenced by environmental determinants. This study aimed to explore the association between atmospheric moisture variability and the transmission of hemorrhagic fever with renal syndrome (HFRS) for the period of 1991-2010 in Changsha, China. Wavelet analyses were performed by using monthly ...
Wang Yong-Tao YT Department of Nephrology, The First Affiliated Hospital, Xinxiang Medical University, Xinxiang, - - 2013
To survey the clinical epidemiology and correlations between pathology and clinical features of major groups of kidney diseases in a rural area of China. From January 1996 to December 2010, histologic diagnosis of renal disease was made on samples collected from 919 patients from a single center in the midland ...
Moon Karam - - 2013
In this paper the authors report the case of a complex dural arteriovenous fistula (dAVF) with high-risk features in a 14-year-old girl with Bannayan-Riley-Ruvalcaba syndrome (BRRS), a phosphatase and tensin homolog-associated syndrome, presenting with signs and symptoms of increased intracranial pressure (ICP) that had previously been attributed to pseudotumor cerebri. ...
Zhao Yue - - 2013
Polycystic ovary syndrome (PCOS) is the most common endocrine problem affecting women of reproductive age and is investigated from many regions of the world. Some reports have indicated ethnic difference in its manifestation. This review addressed the evidences for ethnic variation in the expression of PCOS phenotypes and explored the ...
Cianci Paola - - 2013
This article reports on an association between Burkitt lymphoma and Noonan syndrome (NS) due to a RAF1 gene mutation. The patient was a 7-year-old boy with NS, who was included in the first series reporting the association between Noonan and RAF1, and who later presented with a 2-week history of ...
Martin Gary E GE Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, NC 27599, USA. - - 2013
Fragile X syndrome (FXS) and Down syndrome (DS) are the two leading genetic causes of intellectual disability, and FXS is the most common known genetic condition associated with autism. Both FXS and DS are associated with significant language impairment, but little is known about expressive language across domains over time ...
Barisic Ingeborg - - 2013
Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of ...
Zhao Xu X Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 211166, - - 2014
This study was aimed to explore the associations between the combined effects of several polymorphisms in the PPAR-γ and RXR-α gene and environmental factors with the risk of metabolic syndrome by back-error propagation artificial neural network (BPANN). We established the model based on data gathered from metabolic syndrome patients (n ...
Zhang Yaqin - - 2013
Incontinentia pigmenti (IP) is an uncommon X-linked dominant genodermatosis. It affects predominantly females and is lethal in utero in male fetuses. We herein report a baby girl born with blisters on trunk and limbs. The diagnosis of IP was based on clinical findings and on histopathological analysis of biopsy specimen.
Choi Mona - - 2013
The prevalence of metabolic syndrome is consistently increasing among Korean adults and is reported to be particularly high among older adults in Korea. This paper reports the prevalence of metabolic syndrome and identifies the association between metabolic syndrome and physical activity in Korean older adults. Subjects of this study were ...
Batista Cristiano - - 2013
BACKGROUND AND PURPOSE: Scientific literature offers no epidemiological data regarding prevalence and protective factors for the metabolic syndrome (MetSyn) among former athletes. The aim of this cross-sectional study was to investigate whether former athletes are better protected against MetSyn and if this hypothetical protection is dependent on sex, career, or ...
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