Miracle-dz/UniFAR-FTUs huggingface dataset:
Coeliac disease and risk of venous thromboembolism: a nationwide population‐based case‐control study

Patients with coeliac disease (CD) may be at increased risk of venous thromboembolism (VTE), i.e. deep vein thrombosis (DVT) and its complication pulmonary embolism (PE), because they are reported to have hyperhomocysteinaemia, low levels of K-vitamin-dependent anticoagulant proteins, and increased levels of thrombin-activatable fibrinolysis inhibitor (Halfdanarson et al, 2007). There are several case reports regarding VTE occurrence in CD patients (Daum et al, 2009; Halfdanarson et al, 2007), but observational studies present conflicting results and may have been confounded by medication use and several comorbidities (Ludvigsson et al, 2007; Miehsler et al, 2004; Ramagopalan et al, 2011). Addressing these limitations, we conducted a nationwide population-based case-control study of the association between CD and VTE. The databases and registry codes used, except for CD [International Classification of Diseases (ICD)8: 269.00; ICD-10: K90.0] and dermatitis herpetiformis (ICD-8: 693.08–693.09; ICD-10: L13.0), have previously been described (Schmidt et al, 2011). The Danish National Patient Registry (DNPR) was accessed to identify all incident VTE cases between 1980 and 2010 (n = 136 176). To reduce potential coding errors, outpatient PEs without subsequent inpatient VTE diagnosis were excluded. From the Civil Registration System, we selected up to 10 birth yearand gender-matched population controls for each case (n = 630 565) using risk-set sampling (Pearce, 1993). The diagnosis/matching date was considered the index date for cases and their controls. Subjects with CD diagnosed between 1977 and the index date were identified from the DNPR. Depending on the time between first CD diagnosis and index date, we defined three exposure levels ( 90, 91–365, or > 365 d). As a measure of disease activity, we identified patients with inor outpatient CD diagnosis within 90 d before index date. As potential confounders, we identified cardiovascular disease, chronic obstructive pulmonary disease (COPD) or asthma, diabetes mellitus, liver disease, obesity, osteoporosis, renal failure, dermatitis herpetiformis, surgery, trauma or fracture, infection or pregnancy within 3 months before VTE, cancer before or within 3 months after VTE, and, as proxy of frailty and immobility, any inpatient admission (excluding CD and the comorbidities mentioned above) within 3 months before index date (Schmidt et al, 2011). In a subanalysis, we examined the confounding impact from medication use by retrieving prescription dispensation records from the Aarhus University Prescription Database for a subpopulation in our dataset (the northern Denmark population, 1999–2009). We identified use of nonsteroidal antiinflammatory drugs, systemic glucocorticoids, postmenopausal hormone replacement therapy, antipsychotics, vitamin
Continuum Models of Ductile Fracture: A Review

The past 20 years have seen substantial work on the modeling of ductile damage and fracture. Several factors explain this interest. (i) There is a growing demand to provide tools which allow to increase the efficiency of structures (reduce weight, increase service temperature or load, etc.) while keeping or increasing safety. This goal is indeed first achieved by using better materials but also by improving design tools. Better tools have been provided which consist (ii) of material constitutive equations integrating a physically-based description of damage processes and (iii) of better numerical tools which allow to use the improved constitutive equations in structural computations which become more and more realistic. This article reviews the material constitutive equations and computational tools, which have been recently developed to simulate ductile rupture.
The influence of epistasis on homozygous viability depression in Drosophila melanogaster.

HIS study was carried out in an attempt to assess the importance of epistasis in the deleterious effects of homozygosity. The experimental procedure utilized mating systems, which have now become standard, whereby chromosomes from natural populations of Drosophila melanogaster are extracted and made homozygous. Interaction between chromosomes was measured by comparison of the viability of flies simultaneously homozygous for the two major autosomes with flies homozygous for one or the other. At the same time, intrachromo-some interactions were studied by comparison of three levels of inbreeding in a particular chromosome: 100% homozygosity due to identity by descent ( F = 1 ) ; 50% reduction in heterozygosity ( F = .5) ; and random combinations ( F = 0). The interaction of homozygous lethals and severe detrimentals is of minor consequence to the population because these mutants are of such low individual frequency that simultaneous homozygosity for two or more is a very unusual event in non-inbred populations. On the other hand, mildly deleterious genes are common enough as a group that their homozygous interactions may possibly have appreciable population consequences. Furthermore, their homozygous effects could be of the same general magnitude as their heterozygous effects and those of more drastic chromosomes, and it is as heterozygotes that most mutants probably have their major effect on the population. For these reasons, we have concen-trated mainly on the interactions of mildly deleterious chromosomes. The results to be presented here show no statistically significant systematic interaction between mildly deleterious homozygotes on the two major autosomes. Within a chromosome there is a barely significant synergistic interaction. Our results will be compared with those from a similar experiment by SPASSKY, DOBZHANSKY, and ANDERSON (1965).
Repression of the cell wall protein gene operon in Bacillus brevis 47 by magnesium and calcium ions

Transcription from P2, one of the major promoters of the cell wall protein gene operon of Bacillus brevis 47, was markedly enhanced at the early stationary phase of growth. MgCl2, when added at 1 to 5 mM to the medium, inhibited this enhancement of transcription as well as shedding of the cell wall protein layers from the cell surface. MgSO4 or CaCl2 showed an effect similar to that of MgCl2. The possible coordination of the cell wall structure with regulation of the cell wall protein genes is discussed.
Halophage HF2: genome organization and replication strategy

Halophage HF2 is a lytic, broad-host-range bacteriophage of the extremely halophilic domain Archaea. It has a 79.7-kb double-stranded DNA genome which is linear, contains no modified nucleotides, and is not susceptible to cleavage by many type II restriction endonucleases. This insensitivity is attributed to selection against palindromic restriction sites, a commonly observed feature of broad-host-range phages. Interestingly, enzymes that did cut the genome recognized AT-rich sites, and five such enzymes, DraI, AseI, HpaI, HindIII, and SspI, were used to construct a physical map of the genome. Southern hybridization experiments used to order fragments on the map indicated homologies between the phage termini, and subsequent sequence analysis showed that HF2 possessed 306-bp direct terminal repeats. The presence of such repeats suggested replication through concatameric intermediates, and this was confirmed by analysis of the state of the phage genome in infected cells. This is a replication strategy adopted by many well-studied bacterial phages, for example T3 and T7. Other similarities between the terminal repeats of T3 or T7 and HF2 include a putative nick site at the repeat border and a series of short imperfect repeats. These observations suggest a long evolutionary history for concatamer-based strategies of phage replication, possibly predating the divergence of Archaea/Eucarya and Bacteria, or alternatively, indicate possible lateral transfer of phage genes or modules between the domains Archaea and Bacteria.
Understanding the relationship between trust in health care and attitudes toward living donor transplant among African Americans with end‐stage renal disease

Transplantation is the favored therapy for patients with end‐stage renal disease (ESRD). Unfortunately, demand for available organs far outpaces the supply. African Americans are disproportionately affected by the ever‐widening gap between organ supply and demand. Additionally, structural, biological, and social factors contribute to feelings of unease some African Americans may feel regarding living donor transplant (LDT). The present research examines the relationship between trust in health care and attitudes toward LDT among African American ESRD patients. We hypothesized that lower trust in health care would be significantly associated with negative attitudes toward LDT, and that this relationship would be moderated by patient attitudes toward dialysis. Data were collected from August 2011 to April 2012 as part of a larger study. Measures included trust (of doctors, racial equity of treatment, and hospitals) and attitudes toward both LDT and dialysis. Bivariate analysis revealed that trust in one's doctor, hospital, and in racial equity in health care was significantly correlated with attitudes toward LDT (r = 0.265; r = 0.131; and r = 0.202, respectively). Additionally, attitudes toward dialysis moderated the relationships between Trust in Doctors/Attitudes toward LDT and Trust in Racial equity of treatment/Attitudes toward LDT. Findings suggest a strong relationship between trust in health care and attitudes toward LDT. These findings also shed light on how dialysis experiences are related to the relationship between trust in health care and attitudes toward LDT.
Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers

Mutations in the BRCA1 gene result in an elevated risk of breast cancer (BC) and ovarian cancer (OC). However, risk estimates vary depending on the study population and statistical methodology used, and there are indications that the birth cohort and location of the mutation influence cancer risk. We investigated the risks for BC and OC associated with BRCA1 mutations in a young cohort of female mutation carriers who were identified by molecular genetic testing and belonged to a genetically heterogeneous Central European population. The study included 106 healthy and 158 affected carriers identified at an Austrian risk evaluation center. Risk estimation employed the product limit method. The log rank test was used to compare different strata. The risk of developing cancer to age 70 was found to be 85% for BC (95% CI 75–97%) and 53% for OC (95% CI 37–68%). Female mutation carriers born in 1958 or later were subject to a significantly higher risk of BC (P=0.005; 27% vs. 46% to age 40) and OC (P=0.006; 2% vs. 8% to age 40) than those born earlier. Mutations in exon 11 were associated with lower BC risk than mutations in exons 1–10 (P=0.008) and exons 12–24 (P=0.0006). OC risk was not influenced by mutation location (P=0.86). We conclude that female BRCA1 mutation carriers should be counseled about their cohort‐dependent cancer risk. Further research into variables that affect cancer risk and are amenable to modification (e.g., lifestyle‐related factors) should be considered a priority. Hum Mutat 26(6), 583–589, 2005. © 2005 Wiley‐Liss, Inc.
Bromine and chlorine determination in cigarette tobacco using microwave-induced combustion and inductively coupled plasma optical emission spectrometry

(NH4)2CO3 as absorbing solution and 5 min of reflux. Temperature during combustion was higher than 1400 °C and the residual carbon content in digest obtained after MIC was lower than 1%. Up to eight samples could be processed simultaneously and a single absorbing solution was suitable for both Br and Cl. Limit of quantification by MIC and further ICP OES determination was 12 and 6 µg g -1 for Br and Cl, respectively.
Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence

Purpose: Recent revision of the lissencephaly critical region on chromosome 17p13.3 and confirmation of LIS1 as the causative gene for classical lissencephaly has allowed the development and application of fluorescence in situ hybridization (FISH) probes corresponding directly to this gene.Method: We have analyzed patients with isolated lissencephaly sequence (ILS) by FISH with probes at D17S379, an anonymous locus distal to LIS1, and with LIS1 specific probes.Results: In 110 patients with ILS, a deletion at D17S379 was detected in 23.6%. Of those patients without a deletion, 32 were available for further study with LIS1 probes. Deletions were found in eight additional individuals.Conclusion: The overall deletion mutation rate detectable by FISH with LIS1 probes is =40%. This rate is significantly higher than the deletion rate observed at D17S379. This indicates that FISH studies using probes specific to LIS1 should be undertaken as the initial diagnostic assay for the evaluation of patients with ILS, and the high frequency of deletions raises the possibility of “hotspots” for chromosome breakage in this region.
Tumor cells cotransfected with interleukin‐7 and B7.1 genes induce CD25 and CD28 on tumor‐infiltrating T lymphocytes and are strong vaccines

Interleukin‐7 (IL‐7) and the membrane molecule B7 are both able to provide proliferation and activation signals for T cells. However, tumor cells transfected to express either molecule alone are not reliably rejected in syngeneic hosts or are not sufficiently immunogenic to serve as potent tumor vaccines. Since IL‐7 and B7 have shown synergistically to induce activation and proliferation of T cells in vitro, we have expressed B7.1 by means of a retrovirus in the mammary adenocarcinoma TS/A which arose spontaneously in a BALB/c mouse and in the plasmacytoma J558L and their IL‐7‐transfected sublines to improve vaccine efficacy. Expression of IL‐7 or B7.1 alone in tumor cells decreased tumorigenicity, but nevertheless tumors grew in a substantial number of mice. In contrast, IL‐7/B7.1 cotransfected cells did not grow as tumor in a single case. This inhibition of tumor growth was completely T cell dependent, because TS/A‐IL‐7/B7.1 cells retained their full tumorigenic potential in T cell‐deficient mice. Analysis of tumor‐infiltrating T lymphocytes revealed increased numbers of T cells in B7, IL‐7 and IL‐7/B7 transfected compared to parental tumors. In IL‐7/B7 transfected tumors, T cell numbers were not further increased compared to that in singlegene‐transfected tumors. However, T cells in B7 and IL‐7 transfected tumors differed phenotypically with respect to activation markers. In B7 transfected tumors, T cells were predominantly CD28+ and CD25+, while in IL‐7‐transfected tumors, T cells were mainly CD28− and CD25+. In IL‐7/B7 cotransfected tumors, the majority of T cells was CD28+ and CD25+. Thus, IL‐7 and B7 induced an anti‐tumor immune response by complementary T cell directed pathways in a cooperative fashion. Importantly, immunization of mice with the transfected cells and subsequent contralateral challenge with parental tumor cells showed that IL‐7/B7 co‐expressing cells induced the most strongly protective immunity, which is superior to that induced by single‐gene transfectants and to the adjuvant Corynebacterium parvum. Vaccine efficacy was abrogated when irradiated cells were used for vaccination. Together, our results show that IL‐7 and B7.1 transfected tumor cells induce strong T cell activation and tumor immunity.
[The importance of endosonography in preoperative management of patients with pancreatic head carcinoma].

INTRODUCTION Pancreatic ductal cancer remains a devastating disease with an urgent need for improved diagnostics and new treatment strategies. It has no early specific symptoms, shows rapid progression and is practically undiagnosable in the early stage. Survival of radically operated patients is rather unsatisfactory. Nonetheless, only radical surgical resection offers potentially curative treatment. MATERIAL AND METHODS The authors present a set of 70 patients (2009-2011) who underwent radical surgery - pancreatic head resection - for ductal pancreatic head adenocarcinoma. A retrospective study analyzes the accuracy of T-staging using preoperative CT and EUS. RESULTS In 21 (30%) patients, CT did not prove pathology in the head of the pancreas. Subsequent endosonography revealed a mass in the head of the pancreas in 88% of patients with negative CT scans. The conformity of CT (detection of the mass) with the histopathological finding was detected in 68.2% of cases, 95% CI for compliance: 55.6%-79.1%. The conformity of endosonography (detection of the mass) with the histopathological finding was detected in 96.0% of cases, 95% CI for compliance: 86.3%-99.5%. The conformity between CT and endosonography was found in 68.8% of cases, 95% CI for compliance: 53.8%-81.3%. The conformity of preoperative CT staging and final histopathological staging was observed in 18.2% of cases, 95% CI for compliance: 9.8%-29.6%. The conformity of preoperative endosonography staging and final histopathological staging was seen in 42.0% of cases, 95% CI for compliance: 28.2%-56.8%. The conformity of accuracy of preoperative CT staging and endosonography staging was detected in 37.5% of cases, 95% CI for compliance: 23.9%-52.7%. In 58.3% of cases, endosonography compared with CT findings evaluated higher T stage (p = 0.001). CONCLUSION Pancreatic head carcinoma presents mostly with obstructive jaundice. CT diagnosis of small tumours often fails. Subsequent endosonography in case of a negative CT usually contributes significantly to the final diagnosis and helps determine the indication for surgery. EUS is more accurate than CT in showing the tumour mass in the pancreatic head. In our group EUS revealed the mass in 96% of patients versus 68% in CT. When evaluating the staging, CT is accurate only in 18.2% of patients, EUS in 42% of patients. Both methods, EUS and particularly CT, underestimate the actual final T-staging of the disease.
Clinical experience on the detection of endotoxemia with the limulus test.

Eighty-three hospitalized patients suspected of having serious infections were studied for the presence of circulating endotoxin; the limulus lysate test was used. Although 39 patients in this group were infected with organisms capable of releasing endotoxin into the circulation, only two patients had a positive test. Since the test had to be repeated several times before endotoxin was detected in the two positive cases and since the diagnosis could have been established with blood cultures alone in one of these patients, our results cast serious doubt on the usefulness of the limulus test as a diagnostic aid. Although it is widely assumed that endotoxin is the cause of many of the abnormal changes observed in severe infections with gram-negative bacteria, there is still some doubt regarding this concept. Moreover, in patients with bacteremia or circulatory collapse due to infection with this type of organism, endotoxin is not found uniformly. This study was undertaken to provide additional information with respect to the routine diagnostic value of the limulus test in patients with suspected sepsis and to further clarify the role of endotoxin in human infections. Materials and Methods
The effect of aircraft noise on the mental health of a community sample: a pilot study

SYNOPSIS Results of the investigation of a sample of size N = 200, half of whom live in the vicinity of a main airport, are reported. Three health indicators were examined: (1) annoyance reactions measured with a scale which did not include symptoms; (2) a symptom score, obtained with a screening instrument which identifies possible psychiatric cases; and (3) confirmed psychiatric cases identified with a traditional diagnosis after an interview by a psychiatrist. Noise was undoubtedly associated with annoyance. An association between noise and psychiatric measures was only present in a subgroup of respondents of high education. There was a marked association between annoyance and psychiatric measures. An attempt was made to clarify the nature of this relationship. Hypersensitivity to noise was associated with a high frequency of psychiatric symptoms and should be considered among the high risk factors for psychiatric illness.
Impaired Awareness of Deficits in Alzheimer's Disease: The Role of Everyday Executive Dysfunction

Abstract The present study analyzed the awareness of deficits in 117 mild Alzheimer's disease participants. Since few studies have examined the cognitive and behavioral domains of reduced awareness in detail, we performed a domain-specific assessment using the Awareness of deficit Questionnaire – Dementia scale with the novel aim of describing the relationship with everyday executive dysfunction. Through the use of the subtests of the Behavioral Assessment of the Dysexecutive Syndrome, we hypothesized that executive cognitive functions may play an important role in the reduced awareness of deficits. We also considered other variables of interest to provide a novel comprehensive explanation of this phenomenon. Our first approach to the study was a factor analysis considering the role of these variables in the awareness of deficits; subsequently, regression analysis models were used to define which variables were associated with a reduction of awareness in cognitive and behavioral domains. In particular, the factors retained from the factor analysis, in terms of inhibition, self-monitoring, set-shifting, and mood orientation changes, appear to be important skills for awareness of instrumental activities of daily living (R2 = .32). We also found hypo manic mood orientation and a tendency through apathy to be prominent indications of reduced behavioral awareness (R2 = .13). (JINS, 2013, 18, –)
Allogeneic Bone Marrow Cocultured With Human Islets Significantly Improves Islet Survival and Function In Vivo

Background A significant barrier to islet transplantation is the rapid loss of human islet function in vivo. The present study evaluates whether bone marrow (BM) could be used to support human islet survival and function in vivo. Methods We cocultured human islets and BM for 3 weeks before transplantation into the left subrenal capsule of diabetic severe combined immunodeficient mice. Results The cocultured human islets before transplantation demonstrated improved viability, increased size, and migration capacity in vitro. After 4 months, animals transplanted with precultured BM/islets exhibited euglycemia and detectable human insulin levels (157 &mgr;U/mL), whereas no human insulin was detected in the islet-only transplantation group. Furthermore, the removal of the transplants on day 126 resulted in hyperglycemia, indicating that the reduction of blood glucose was dependent on the transplants. Diabetic mice transplanted with BM/islets demonstrated the longest survival period (130 vs. 40 days for those with islet-only transplants). The transplanted BM/islets showed signs of vascularization and migration from the renal capsule into medulla. Conclusions Our results suggest that BM precultured with human islets may enhance the survival and function of transplanted islets, thus significantly improving the therapeutic efficacy of islet transplantation for type 1 diabetes.