Search results for "COD"
showing 10 items of 2985 documents
A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy
1997
1. IntroductionMore than 50 mutations of the transthyretin (TTR) [1]molecule resulting in different clinical forms of amyloidosisincluding familial amyloid polyneuropathy (FAP) havebeen reported to date. Within this FAP spectrum severaltransthyretin mutations are more frequent, others are rare.One mutation, the codon 58 histidine for leucine has pre-viously been recorded only in American subjects (Mary-land/German type), originally reported in a large kinship[2,3] and in another family from Ohio [4]. In the originaldescription of the Maryland/German type of amyloidosis[2], it was stated that the early immigrants in this pedigreewere from the Rhine river area, "nearly all of them from thelef…
Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.
2008
The sudden, unexpected, and unexplained death of both members of a set of healthy twins (simultaneous sudden infant death syndrome (SSIDS)) is defined as a case in which both infants meet the definition of sudden infant death syndrome individually. A search of the world medical literature resulted in only 42 reported cases of SSIDS. We report the case of a pair of identical, male, monozygotic twins, 138 days old, who suddenly died, meeting the full criteria of SSIDS and where a genetic screen was performed, resulting in a heterozygous nonsense SCN5A mutation (W822X) in both twins. Immunohistochemistry was performed on cardiac tissue samples utilizing polyclonal antibodies anti-Na+ CP type V…
Is hospital discharge administrative data an appropriate source of information for cancer registries purposes? Some insights from four Spanish regist…
2010
Abstract Background The use of hospital discharge administrative data (HDAD) has been recommended for automating, improving, even substituting, population-based cancer registries. The frequency of false positive and false negative cases recommends local validation. Methods The aim of this study was to detect newly diagnosed, false positive and false negative cases of cancer from hospital discharge claims, using four Spanish population-based cancer registries as the gold standard. Prostate cancer was used as a case study. Results A total of 2286 incident cases of prostate cancer registered in 2000 were used for validation. In the most sensitive algorithm (that using five diagnostic codes), e…
Positive Predictive Value of French Hospitalization Discharge Codes for Stroke and Transient Ischemic Attack.
2015
<b><i>Background:</i></b> We aimed at measuring the positive predictive value (PPV) of data in the French Hospital Medical Information Database (FHD). <b><i>Summary:</i></b> This retrospective multicenter study included 31 hospitals from where 56 hospital stays were randomly selected among all hospitalizations for the years 2009 and 2010 with at least 1 principal diagnosis of stroke or transient ischemic attack (TIA). Three algorithms were evaluated. Algorithm 1 selected discharge abstracts with at least 1 principal diagnosis identified by one of the relevant International Classification of Diseases, 10th revision codes. Algorithm 2 selected s…
Estimating the burden of hospitalization for pneumococcal pneumonia in a general population aged 50 years or older and implications for vaccination s…
2014
Streptococcus pneumoniae is a major cause of human infectious diseases worldwide. Despite this documented evidence, data on pneumococcal disease rates among general populations are scant because of the frequent lack of cultural identification. In this study we propose a model for estimating the burden of pneumococcal pneumonia on hospitalizations. The study was performed by analyzing administrative and clinical data of patients aged 50 years or older, resident in Sicily, and hospitalized, from 2005 to 2012. Demographic information, admission/discharge dates, discharge status, and up to 6 discharge diagnoses coded according to ICD-9 CM were collected for each hospitalized patient. During the…
Sequence variation in couch potato and its effects on life-history traits in a northern malt fly, Drosophila montana
2011
Abstract Couch potato ( cpo ) has previously been connected to reproductive diapause in several insect species including Drosophila melanogaster , where it has been suggested to provide a link between the insulin signalling pathway and the hormonal control of diapause. In the first part of the study we sequenced nearly 3.6 kb of this gene in a northern Drosophila species ( Drosophila montana ) with a robust photoperiodically determined diapause and found several types of polymorphisms along the sequenced area. We also found variation among five Drosophila virilis group species in the length of the 5th exon of cpo and in the site of the stop codon at the end of this exon. The second part of …
Molecular mechanisms of Id2 down-regulation in rat liver after acetaminophen overdose. Protection by N-acetyl-L-cysteine.
2010
Id2 is a pleiotropic protein whose function depends on its expression levels. Id2-deficient cells show increased cell death. This study explored the molecular mechanisms for the modulation of Id2 expression elicited by GSH and oxidative stress in the liver of acetaminophen (APAP)-intoxicated rats. APAP-overdose induced GSH depletion, Id2 promoter hypoacetylation, RNApol-II released and, therefore, Id2 down-regulation. Id2 expression depends on c-Myc binding to its promoter. APAP-overdose decreased c-Myc content and binding to Id2 promoter. Reduction of c-Myc was not accompanied by decreased c-myc mRNA, suggesting a mechanism dependent on protein stability. Administration of N-acetyl-cystein…
Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.
2012
We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminus of coagulation factor VII (FVII, 466 aminoacids). FVII levels of 3-5% and 2.7 ± 0.4% were found in prothrombin time-based and activated factor X (FXa) generation assays with human thromboplastins. Noticeably, FVII antigen levels were barely detectable (0.7 ± 0.2%) which suggested a gain-of-function effect. This effect was more pronounced with bovine thromboplastin (4.8 ± 0.9%) and disappeared with rabbit thromboplastin (0.7 ± 0.2%). This suggests that the mutation influences tissue factor/FVII interactions. Whereas the recombinant rFVII-462X variant confirmed an increase in specific activit…
The PHQ-PD as a screening tool for panic disorder in the primary care setting in Spain
2016
INTRODUCTION Panic disorder is a common anxiety disorder and is highly prevalent in Spanish primary care centres. The use of validated tools can improve the detection of panic disorder in primary care populations, thus enabling referral for specialized treatment. The aim of this study is to determine the accuracy of the Patient Health Questionnaire-Panic Disorder (PHQ-PD) as a screening and diagnostic tool for panic disorder in Spanish primary care centres. METHOD We compared the psychometric properties of the PHQ-PD to the reference standard, the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I) interview. General practitioners referred 178 patients who completed the entir…
The pathogenetic role of adulterants in 5 cases of drug addicts with a fatal outcome
2013
The purpose of the present study is to determine the role of lidocaine, caffeine and dextromethorphan, used as adulterant substances, in five cases of drug overdose which have come to our attention. Taking into account the pharmacological mechanism, blood concentration and route of administration (intravenous) we evaluated the hypothesis that these substances could act with a synergistic effect - or at least additive - with the illicit drugs on the central nervous system and cardiovascular system.