Abstract：
:Cystinuria is an autosomal recessive disorder of the kidneys and small intestine, affecting a luminal transport mechanism shared by cystine, ornithine, arginine and lysine. When cystine exceeds its solubility at low pH, the risk of stone formation increases. The data reported in the literature show a variation for the incidence of cystinuria, from 1 in 600 to 1 in 17,000, depending on the definition of cystinuria and the method used for screening the population. We set up a pilot screening programme to determine the incidence of cystinuria in the population of the Valencian Community. Urine filter paper samples submitted for the neonatal screening programme from 33,995 newborns (5-10 days old) were used for the study. Thin layer chromatography (TLC) was performed to screen cystinuric patients. To confirm positive filter paper samples, liquid samples were requested and TLC as well as the cyanide-nitroprusside test (CNT) were performed. Final diagnosis was achieved by quantifying cystine, lysine, ornithine and arginine using high-performance liquid chromatography (HPLC) in children's urine samples which remained positive for TLC and CNT for more than 1 year. We conclude that the incidence of subjects at risk for cystine stones in the Valencian Community is 1:1887. TLC is shown as a reliable method to perform newborn screening in large population to detect cystinuric subjects. Additional studies, including characterization of appropriate haplotypes, should be carried out for a more precise identification of the frequency of the different types of cystinuria in our population.
journal_name
Eur J Epidemioljournal_title
European journal of epidemiologyauthors
Cabello-Tomás ML,García-Gómez AM,Guillén-Domínguez MLdoi
10.1023/a:1007522215041keywords:
subject
Has Abstractpub_date
1999-08-01 00:00:00pages
681-4issue
7eissn
0393-2990issn
1573-7284journal_volume
15pub_type
杂志文章abstract：:Monitoring perceptions, knowledge, attitudes and behaviors of populations during pandemic flu outbreaks is important as it allows communication strategies to be adjusted to meet emerging needs and assessment to be made of the effects of recommendations for prevention. The ongoing Italian Behavioral Risk Factor Surveil...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-011-9576-3
更新日期：2011-03-01 00:00:00
abstract：:Methods for the rapid diagnosis of infectious diseases have become increasingly common in the last decade. The impetus for the development of such techniques has stemmed from the need to provide clinically relevant information without the length of time and complexity inherent to traditional cultivation methods. This ...
journal_title：European journal of epidemiology
pub_type： 杂志文章,评审
doi：10.1007/BF00145645
更新日期：1987-12-01 00:00:00
abstract：:Mortality rates for coronary heart disease (CHD) experience a longstanding decline, attributed to progress in prevention, diagnostics and therapy. However, CHD mortality rates vary between countries. To estimate whether national patterns of causes of death impact CHD mortality, data from the WHO "European detailed mor...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-020-00699-0
更新日期：2021-01-01 00:00:00
abstract：:Big Data and precision medicine, two major contemporary challenges for epidemiology, are critically examined from two different angles. In Part 1 Big Data collected for research purposes (Big research Data) and Big Data used for research although collected for other primary purposes (Big secondary Data) are discussed ...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-018-0385-9
更新日期：2018-03-01 00:00:00
abstract：:Methods for efficiently identifying subjects with constantly acidic pH in epidemiological and clinical studies have not been assessed. We recruited 30 volunteers to estimate the minimum number of urine pH measurements using pH strips needed to identify subjects with "constantly acidic urine pH". Spearman's correlation...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-006-9101-2
更新日期：2007-01-01 00:00:00
abstract：:Studies that investigated the association between tea consumption and the risk of major cardiovascular events have reported inconsistent results. We conducted a meta-analysis of prospective observational studies in order to summarize the evidence regarding the association between tea consumption and major cardiovascul...
journal_title：European journal of epidemiology
pub_type： 杂志文章,meta分析,评审
doi：10.1007/s10654-014-9960-x
更新日期：2015-02-01 00:00:00
abstract：:To evaluate the Toxocara spp. eggs environmental contamination of the soil of the urban or suburban area Ancona (Italy), 22 public playgrounds were selected and several cores of soil were taken from any selected areas. To study the Toxocara seroprevalence in the inhabitants of Ancona, blood samples were collected from...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/a:1010853124085
更新日期：2000-01-01 00:00:00
abstract：:This paper studies prostate cancer mortality in Italy from 1950-1979 to evaluate its importance in relation to total cancers, examine the time trend for forecasting future mortality trends, and makes an attempt to interpretate mortality by analyzing demographic and risk factors. In the Authors' opinion findings from c...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/BF00141808
更新日期：1985-06-01 00:00:00
abstract：:To determine whether deer may play a role in the cycle of the Lyme disease spirochete Borrelia burgdorferi, we sought evidence for the presence of the pathogen in skin of deer and roe deer. Biopsies of 2 mm3 were taken at four different levels from nail to tarsus. A total of 50 animals (200 biopsies) were shot in the ...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/a:1007646216035
更新日期：2000-01-01 00:00:00
abstract：:The present study was carried out in order to monitor the epidemiology of Mycobacterium tuberculosis disease in the Padua Health District over the period 1985-1996 with a view to the situation in some population subgroups. The average annual rate per 100,000 persons per year was 7.9 with a peak in 1994 (15.6 per 100,0...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/a:1007458330542
更新日期：1998-02-01 00:00:00
abstract：:The aim of this study was to assess the effects of different dietary approaches on low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglyceride (TG) levels in patients with type 2 diabetes (T2D) by applying network meta-analysis (NMA). Systematic electronic and hand searches ...
journal_title：European journal of epidemiology
pub_type： 杂志文章,meta分析
doi：10.1007/s10654-019-00534-1
更新日期：2019-09-01 00:00:00
abstract：:To estimate the prevalence of human herpesvirus type 8 (HHV-8) in Albania and its correlation with HBV and HCV, we tested 196 serum samples collected from apparently healthy adults (i.e., 154 women and 42 men). We found 20% anti-HHV-8 antibodies, about 10% HbsAg-positive, and 67% anti-HBc antibodies; anti-HCV antibody...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/b:ejep.0000027358.38997.66
更新日期：2004-01-01 00:00:00
abstract：:Sedentary behaviour is an emerging risk factor for several site-specific cancers. Ovarian cancers are often detected at late disease stages and the role of sedentary behaviour as a modifiable risk factor potentially contributing to ovarian cancer risk has not been extensively examined. We systematically searched relev...
journal_title：European journal of epidemiology
pub_type： 杂志文章,评审
doi：10.1007/s10654-020-00712-6
更新日期：2021-01-25 00:00:00
abstract：:To characterize possible Trichophyton rubrum phenotypes, which circulate in two Brazilian localities, we tested 53 isolates of this dermatophyte for their ability to assimilate several carbon sources, for keratinase, proteinase, phospholipase, lipase and desoxiribonuclease (DNase) secretions, and for their susceptibil...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/a:1015675728486
更新日期：2001-01-01 00:00:00
abstract：:This work is about the comparison between two studies performed in southern Italy: 'Montecorvino Rovella Project' (PMR, 1988-1989) and 'VIP Project' (Prevention in the Irno Valley, 1998-1999) to evaluate the trend of cholesterolaemia in an area of the Campania region. These two areas which are near the city of Salerno...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/a:1022533117139
更新日期：2003-01-01 00:00:00
abstract：BACKGROUND:Traumatic brain injuries (TBIs) remain an important public health problem in developed countries. Hospital records were reviewed to ascertain the epidemiology of TBIs in Northeast Italy. METHODS:The annual rates of TBI-associated hospitalisation were estimated by analysing data collected from hospital recor...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/a:1026192020963
更新日期：2003-01-01 00:00:00
abstract：BACKGROUND:The incidence of Crohn's disease (CD) has been shown to be lower in Southern than in Northern Europe. Data on the frequency of the NOD2/CARD15 mutations for Mediterranean area are very scant. AIM:To determine the incidence of CD from 1979 to 2002 in a township in Sicily together with the allele frequency of...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-006-9054-5
更新日期：2006-01-01 00:00:00
abstract：:The aim of this study was to evaluate completeness of tuberculosis notification in Bichat Claude-Bernard University Hospital and to evaluate whether misclassification of atypical mycobacterial infection could have contributed to the inaccuracy of tuberculosis notification. Data from Microbiology Laboratory of the hosp...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/a:1007457523455
更新日期：1998-06-01 00:00:00
abstract：:Five-hundred-seventy-seven, 6 year old schoolchildren from Rome were examined. 67.8% of them harboured 1 x 10(5) or more Streptococcus mutans CFU per milliliter of saliva. This value was higher than values reported by other Authors. However, the caries prevalence of the subjects in this study was lower than values sho...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/a:1007333102815
更新日期：1997-01-01 00:00:00
abstract：:Whether income inequality is related to population health is still open to debate. We aimed to critically assess the relationship between income inequality and mortality in 43 European countries using comparable data between 1987 and 2008, controlling for time-invariant and time-variant country-level confounding facto...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-015-0066-x
更新日期：2015-08-01 00:00:00
abstract：:Insectivores (Erinaceus europaeus) and rodents (Rattus rattus, R. norvegicus and Mus musculus) from different islands of the Azores Archipelago were found to carry three distinct Leptospira interrogans s.l. serovars (copenhageni, icterohaemorrhagiae and ballum) which have never been previously investigated there. The ...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/a:1007383405833
更新日期：1997-06-01 00:00:00
abstract：:The aims of the NYU Children's Health and Environment Study (CHES) are to evaluate influences of prenatal non-persistent chemical exposures on fetal and postnatal growth and pool our data with the US National Institutes of Health Environmental influences on Child Health Outcomes (ECHO) Program to answer collaborative ...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-020-00623-6
更新日期：2020-03-01 00:00:00
abstract：:We report on the first case-control study to investigate the role of wider environmental and socioeconomic factors upon human cryptosporidiosis. Using GIS the detailed locations of 3368 laboratory-confirmed cases were compared to the locations of an equal number of controls. All cases were genotyped enabling Cryptospo...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-007-9179-1
更新日期：2007-01-01 00:00:00
abstract：:The immune status against polioviruses was investigated in a population of 545 students aged 11-20 years residing in the Neapolitan area, who had completed the vaccination cycle with four doses of OPV 5 to over 15 years before. Assuming as unprotected those individuals without detectable neutralizing antibodies at the...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/BF00144420
更新日期：1996-02-01 00:00:00
abstract：:Prenatal famine exposure has previously been shown to be associated with cardiovascular disease and type II diabetes in adulthood. In the current study, we could not demonstrate an effect of prenatal exposure to famine in 2254 term singletons born during the 1944-1945 Dutch famine on adult mortality up to the age of 5...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-005-7921-0
更新日期：2005-01-01 00:00:00
abstract：:A two-stage cross-sectional study was conducted in a 951-bed acute-care hospital: a first survey designed to determine the profile of patients aged > or = 64 years needing supportive social/health care services, in which 38 patients discharged between June and July, 1992 (group 1) with social/health care problems that...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1023/a:1007420911766
更新日期：1997-12-01 00:00:00
abstract：:At the end of 1988 an outbreak of trichinellosis involving 48 persons occurred in a small town in Central Italy, near the Appennine mountains. The epidemic was caused by the ingestion of sausages recently made with wild boar meat. The people affected were mostly relatives and friends of hunters. Trichinella larvae wer...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/BF00144815
更新日期：1992-03-01 00:00:00
abstract：:Maternal obesity during pregnancy is an important public health problem in Western countries. Currently, obesity prevalence rates in pregnant women are estimated to be as high as 30%. In addition, approximately 40% of women gain an excessive amount of weight during pregnancy in Western countries. An accumulating body ...
journal_title：European journal of epidemiology
pub_type： 杂志文章,评审
doi：10.1007/s10654-015-0085-7
更新日期：2015-11-01 00:00:00
abstract：:The measurement of lifetime prevalence of depression in cross-sectional surveys is biased by recall problems. We estimated it indirectly for two countries using modelling, and quantified the underestimation in the empirical estimate for one. A microsimulation model was used to generate population-based epidemiological...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-004-1009-0
更新日期：2005-01-01 00:00:00
abstract：:Previously published studies on the risk of cancer among male priests have been based on cancer mortality with the exception of one case-control study. The aim of this study was to present estimates of cancer incidence among Nordic male priests. The study cohort for our analyses consisted of 6.5 million men aged 30-64...
journal_title：European journal of epidemiology
pub_type： 杂志文章
doi：10.1007/s10654-011-9645-7
更新日期：2012-02-01 00:00:00
