bluuebunny/crossref_metadata_2025_split huggingface dataset:
UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family
Authors: Uddin Mohammed , Maksymowych Walter P , Inman Robert , Gladman Dafna , Munn Alexandra , Yazdani Ramin , Pellett Fawnda , Hamilton Sean , O’Rielly Darren D , Rahman Proton 
Published: August 2013

Abstract

Background
The primary objective of this study is to identify novel copy number variations (CNVs) associated with familial ankylosing spondylitis (AS). A customized genome-wide microarray was designed to detect CNVs and applied to a multiplex AS family with six (6) affected family members. CNVs were detected using the built-in DNA analytics aberration detection method-2 (ADM-2) algorithm. Gene enrichment analysis was performed to observe the segregation. Subsequent validation was performed using real time quantitative fluorescence polymerase reaction (QF-PCR). The frequency of copy number variation for the UGT2B17 gene was then performed on two well-defined AS cohorts. Fisher exact test was performed to quantify the association.

Results
Our family-based analysis revealed ten gene-enriched CNVs that segregate with all six family members affected with AS. Based on the proposed function and the polymorphic nature of the UGT2B17 gene, the UGT2B17 gene CNV was selected for validation using real time QF-PCR with full concordance. The frequency of two copies of the UGT2B17 gene CNV was 0.41 in the Newfoundland AS cases and 0.35 in the Newfoundland controls (OR = 1.26(0.99-1.59); p < 0.05)), whereas the frequency of two (2) copies of the UGT2B17 gene CNV was 0.40 in the Alberta AS cases and 0.39 in the Alberta controls (OR = 1.05(95% CI: 0.83-1.33); p < 0.71)).

Conclusions
A genome-wide microarray interrogation of a large multiplex AS family revealed segregation of the UGT2B17 gene CNV among all affected family members. The association of the UGT2B17 CNV with AS is particularly interesting given the recent association of this CNV with osteoporosis and the proposed function as it encodes a key enzyme that inhibits androgens. However, two copies of the UGT2B17 gene CNV were only marginally significant in a uniplex AS cohort from Newfoundland but not in a uniplex AS cohort from Alberta.
Preeclampsia is associated with increased maternal body weight in a northeastern Brazilian population
Authors: Dantas Edailna Maria de Melo , Pereira Flávio Venicio Marinho , Queiroz José Wilton , Dantas Diogo Luis de Melo , Monteiro Gloria Regina Gois , Duggal Priya , Azevedo Maria de Fatima , Jeronimo Selma Maria Bezerra , Araújo Ana Cristina Pinheiro Fernandes 
Published: August 2013

Abstract

Background
Preeclampsia is a disease with great variability in incidence across the world. The mortality is higher in lower income countries, where it is the leading cause of maternal mortality. This study aimed to determine the frequency of and risk factors for preeclampsia in a low income population from an urban area of Brazil.

Methods
A prospective case control study of 242 women of which 30 developed preeclampsia, 4 had gestational hypertension, 2 had superimposed hypertension, 11 had spontaneous abortion, 13 were lost to follow up and 192 had normal pregnancy. This latter group was considered the normotensive controls. The rate of preeclampsia and the risk of cardiovascular disease, after onset of preeclampsia, were determined.

Results
Of the 218 women who completed the study, the frequency of hypertensive disorder of pregnancy was 16.5% (36 of 218) and of preeclampsia was 13.8% (30 of 218). Women with preeclampsia had a higher body mass index (BMI), mean of 25.3 ± 4.8 compared to 23.5 ± 3.7 for the normotensive controls, p = 0.02. The risk of preeclampsia increased with BMI [Odds ratio (OR) 1.12, 95% Confidence Interval (CI = 1.02;1.24, p-value = 0.023)]. Women with preeclampsia developed chronic hypertension more often than normotensive controls (p = 0.043) and their systolic and ambulatory blood pressure monitoring was elevated (p = 0.034). Women with preeclampsia had higher BMI even 5 years post-pregnancy (p = 0.008).

Conclusions
Women who are overweight or older have an increased risk of preeclampsia. Previous history of preeclampsia increases the risk of early onset of chronic hypertension. Therefore, effective preventive measures are needed, particularly women at lower social economic stratum who have less access to proper medical care and adequate nutrition.
Combination of carbonic anhydrase inhibitor, acetazolamide, and sulforaphane, reduces the viability and growth of bronchial carcinoid cell lines
Authors: Mokhtari Reza Bayat , Kumar Sushil , Islam Syed S , Yazdanpanah Mehrdad , Adeli Khosrow , Cutz Ernest , Yeger Herman 
Published: August 2013

Abstract

Background
Bronchial carcinoids are pulmonary neuroendocrine cell-derived tumors comprising typical (TC) and atypical (AC) malignant phenotypes. The 5-year survival rate in metastatic carcinoid, despite multiple current therapies, is 14-25%. Hence, we are testing novel therapies that can affect the proliferation and survival of bronchial carcinoids.

Methods
In vitro studies were used for the dose–response (AlamarBlue) effects of acetazolamide (AZ) and sulforaphane (SFN) on clonogenicity, serotonin-induced growth effect and serotonin content (LC-MS) on H-727 (TC) and H-720 (AC) bronchial carcinoid cell lines and their derived NOD/SCID mice subcutaneous xenografts. Tumor ultra structure was studied by electron microscopy. Invasive fraction of the tumors was determined by matrigel invasion assay. Immunohistochemistry was conducted to study the effect of treatment(s) on proliferation (Ki67, phospho histone-H3) and neuroendocrine phenotype (chromogranin-A, tryptophan hydroxylase).

Results
Both compounds significantly reduced cell viability and colony formation in a dose-dependent manner (0–80 μM, 48 hours and 7 days) in H-727 and H-720 cell lines. Treatment of H-727 and H-720 subcutaneous xenografts in NOD/SCID mice with the combination of AZ + SFN for two weeks demonstrated highly significant growth inhibition and reduction of 5-HT content and reduced the invasive capacity of H-727 tumor cells. In terms of the tumor ultra structure, a marked reduction in secretory vesicles correlated with the decrease in 5-HT content.

Conclusions
The combination of AZ and SFN was more effective than either single agent. Since the effective doses are well within clinical range and bioavailability, our results suggest a potential new therapeutic strategy for the treatment of bronchial carcinoids.
Risk factors for mental disorders in women survivors of human trafficking: a historical cohort study
Authors: Abas Melanie , Ostrovschi Nicolae V , Prince Martin , Gorceag Viorel I , Trigub Carolina , Oram Siân 
Published: August 2013

Abstract

Background
Previous studies have found high levels of symptoms of depression, anxiety, and post-traumatic stress disorder among women survivors of human trafficking. No previous research has described risk factors for diagnosed mental disorders in this population.

Methods
A historical cohort study of women survivors of trafficked women aged 18 and over who returned to Moldova and registered for assistance with the International Organisation for Migration (IOM). Women were approached by IOM social workers and, if they gave informed consented to participate in the study, interviewed by the research team. At 2–12 months post-return to Moldova, a psychiatrist assessed DSM-IV mental disorders blind to information about women’s pre-trafficking and post-trafficking experiences using the Structured Clinical Interview for DSM-IV (SCID). A backwards stepwise selection procedure was used to create a multivariable regression model of risk factors for DSM-IV mental disorder measured at an average of 6 months post-return.

Results
120/176 (68%) eligible women participated. At an average of 6 months post-return, 54% met criteria for any DSM-IV mental disorder: 35.8% of women had PTSD (alone or co-morbid), 12.5% had depression without PTSD and 5.8% had another anxiety disorder. Multivariable regression analysis found that childhood sexual abuse (Adjusted Odds Ratio [AOR] 4.68, 95% CI 1.04-20.92), increased number of post-trafficking unmet needs (AOR 1.80; 95% CI 1.28-2.52) and post-trafficking social support (AOR 0.64; 95% CI 0.52-0.79) were independent risk factors for mental disorder, and that duration of trafficking showed a borderline association with mental disorder (AOR 1.12, 95% CI 0.98-1.29).

Conclusions
Assessment for mental disorders should be part of re-integration follow-up care for women survivors of human trafficking. Mental disorders at that time, most commonly PTSD and depression, are likely to be influenced by a range of predisposing, precipitating and maintaining factors. Care plans for survivors of trafficking must be based on individual needs, and must apply clinical guidelines for the treatment of PTSD and of depression. Evidence is needed on the effectiveness of therapy for PTSD in survivors of human trafficking.
Chronic disease mortality in rural and urban residents in Hubei Province, China, 2008–2010
Authors: Cheng Liwei , Tan Li , Zhang Lan , Wei Sheng , Liu Li , Long Lu , Zhang Jie , Wu Yaqiong , Zhang Qingjun , Nie Shaofa 
Published: August 2013

Abstract

Background
Chronic non-communicable diseases have become the major cause of death in China. This study describes and compares chronic disease mortality between urban and rural residents in Hubei Province, central China.

Methods
Death records of all individuals aged 15 years and over who died from 2008 through 2010 in Hubei were obtained from the Disease Surveillance Points system maintained by the Hubei Province Centers for Disease Control and Prevention. Average annual mortality, standardized death rates, years of potential life lost (YLL), average years of potential life lost (AYLL) and rates of life lost were calculated for urban and rural residents. Standardized rate ratios (SRR) were calculated to compare the death rates between urban and rural areas.

Results
A total of 86.2% of deaths were attributed to chronic non-communicable diseases in Hubei. Cerebrovascular diseases, ischemic heart disease and neoplasms were the main leading causes in both urban and rural areas, and the mortality rates were higher among rural residents. Lung cancer was the principal cause of mortality from cancer among urban and rural residents, and stomach cancer and liver cancer were more common in rural than urban areas. Breast cancer mortality among women in rural areas was lower than in urban areas (SRR=0.73, 95% CI=0.63–0.85). The standardized mortality for chronic lower respiratory disease among men in rural areas was higher than in urban areas (SRR=4.05, 95% CI=3.82–4.29). Among men, total AYLL from liver cancer and other diseases of liver were remarkably higher than other causes in urban and rural areas. Among women the highest AYLL were due to breast cancer in both urban and rural areas.

Conclusions
Chronic diseases were the major cause of death in Hubei Province. While circulatory system diseases were the leading causes in both urban and rural areas, our study highlights that attention should also be paid to breast cancer among women and chronic lower respiratory disease among rural residents. It is important that governments focus on this public health issue and develop preventive strategies to reduce morbidity and premature mortality from chronic non-communicable diseases.
Feasibility of introducing compulsory community health fund in low resource countries: views from the communities in Liwale district of Tanzania
Authors: Marwa Boniphace , Njau Bernard , Kessy Joachim , Mushi Declare 
Published: August 2013

Abstract

Background
In 1995, Tanzania introduced the voluntary Community Health Fund (CHF) with the aim of ensuring universal health coverage by increasing financial investment in the health sector. The uptake of the CHF is low, with an enrolment of only 6% compared to the national target of 75%. Mandatory models of community health financing have been suggested to increase enrolment and financial capacity. This study explores communities’ views on the introduction of a mandatory model, the Compulsory Community Health Fund (CCHF) in the Liwale district of Tanzania.

Methods
A cross-sectional study which involved 387 participants in a structured face to face survey and 33 in qualitative interviews (26 in focus group discussions (FGD) and 7 in in-depth interviews (IDI). Structured survey data were analyzed using SPSS version 16 to produce descriptive statistics. Qualitative data were analyzed using content analysis.

Results
387 people completed a survey (58% males), mean age 38 years. Most participants (347, 89.7%) were poor subsistence farmers and 229 (59.2%) had never subscribed to any form of health insurance scheme. The idea of a CCHF was accepted by 221 (57%) survey participants. Reasons for accepting the CCHF included: reduced out of pocket expenditure, improved quality of health care and the removal of stigma for those who receive waivers at health care delivery points. The major reason for not accepting the CCHF was the poor quality of health care services currently offered. Participants suggested that enrolment to the CCHF be done after harvesting when the population were more likely to have disposable income, and that the quality care of care and benefits package be improved.

Conclusions
The CHF is acceptable to the most of study participants and feasible in rural Tanzania as an alternative mechanism to finance health care for the rural poor. Community members are willing to join the scheme provided they are well informed, involved in the design and implementation, and assured quality health care. Strong political will and a supportive environment are key ingredients for the success of the CCHF.
Is a Plasmodium lactate dehydrogenase (pLDH) enzyme-linked immunosorbent (ELISA)-based assay a valid tool for detecting risky malaria blood donations in Africa?
Authors: Atchade Pascal S , Doderer-Lang Cécile , Chabi Nicodème , Perrotey Sylvie , Abdelrahman Tamer , Akpovi Casimir D , Anani Ludovic , Bigot André , Sanni Ambaliou , Candolfi Ermanno 
Published: August 2013

Abstract

Background
Malaria is a leading cause of mortality in southern Benin. The main causative agent, Plasmodium falciparum, poses a threat on critical transfusions in pregnant women and children. This study’s objective was to compare the performance of different malaria screening methods in blood donors in southern Benin, a malaria-endemic country.

Methods
Blood from 2,515 voluntary blood donors in Benin was collected over a period of 10 months in ethylenediaminetetraacetic acid (EDTA) tubes, which were then classified according to extraction time: long rainy season, short dry season, short rainy season, and long dry season. Microscopic examination was used to count parasites. Parasite density (PD) was expressed as the number of parasites per μL of blood. Pan Plasmodium pLDH detection was assessed by an ELISA-malaria antigen test. Using crude soluble P. falciparum antigens, an ELISA-malaria antibody test detected anti-Plasmodium antibodies.

Results
Among the 2,515 blood donors (2,025 males and 488 females) screened, the rate of asymptomatic Plasmodium carriage was 295/2,515 (11.72%, 95% CI: 10.5-13.1%). Males had a higher infection rate (12.4%) than did females (8.8%). Parasite density was very low: between seven and100 parasites per μL of blood was reported in 80% of donors with parasitaemia. Three Plasmodium species were diagnosed: P. falciparum in 280/295 patients (95.0%), Plasmodium malariae in 14/295 (5.0%), and Plasmodium ovale in 1/295 (0.34%). Malaria prevalence in donors was higher during the rainy seasons (13.7%) compared with the dry seasons (9.9%). The use of a highly sensitive assay enabled pan Plasmodium pLDH detection in 966/2,515 (38.4%, 95% CI: 36.5%-40.3%). Malaria antibody prevalence was 1,859/2,515 (73.9%, 95% CI: 72.16-75.6%). Donors’ antigenaemia and antibody levels varied significantly (P <0.05) over the course of the four seasons. The highest antigenaemia rate 323/630 (51.3%), was observed during the short rainy season, while the highest antibody prevalence, 751/886 (84.7%), was recorded during the long dry season.

Conclusion
Blood donations infected with Plasmodium can transmit malaria to donation recipients. Malaria diagnostic methods are currently available, but the feasibility criteria for mass screening in endemic areas become preponderant. Detection of the pLDH antigen seems to be an adequate screening tool in endemic areas, for this antigen indicates parasite presence. Routine screening of all donated blood would prevent infected blood donations and reduce P. falciparum transmission in critical patients, such as children and pregnant women. This tool would also decrease medical prophylaxis in donation recipients and contribute to lower Plasmodium resistance.
Assessment of risk of bias in translational science
Authors: Barkhordarian Andre , Pellionisz Peter , Dousti Mona , Lam Vivian , Gleason Lauren , Dousti Mahsa , Moura Josemar , Chiappelli Francesco 
Published: August 2013

Abstract
Risk of bias in translational medicine may take one of three forms: A. a systematic error of methodology as it pertains to measurement or sampling (e.g., selection bias), B. a systematic defect of design that leads to estimates of experimental and control groups, and of effect sizes that substantially deviate from true values (e.g., information bias), and C. a systematic distortion of the analytical process, which results in a misrepresentation of the data with consequential errors of inference (e.g., inferential bias). Risk of bias can seriously adulterate the internal and the external validity of a clinical study, and, unless it is identified and systematically evaluated, can seriously hamper the process of comparative effectiveness and efficacy research and analysis for practice. The Cochrane Group and the Agency for Healthcare Research and Quality have independently developed instruments for assessing the meta-construct of risk of bias. The present article begins to discuss this dialectic.
Direct isolation of myofibroblasts and fibroblasts from bleomycin-injured lungs reveals their functional similarities and differences
Authors: Akamatsu Taisuke , Arai Yosifumi , Kosugi Isao , Kawasaki Hideya , Meguro Shiori , Sakao Makiko , Shibata Kiyoshi , Suda Takafumi , Chida Kingo , Iwashita Toshihide 
Published: August 2013

Abstract

Background
Myofibroblasts play a crucial role in tissue repair. The functional similarities and differences between myofibroblasts and fibroblasts are not fully understood because they have not been separately isolated from a living body. The purpose of this study was to establish a method for the direct isolation of myofibroblasts and fibroblasts from injured lungs by using fluorescence-activated cell sorting and to compare their functions.

Results
We demonstrated that lineage-specific cell surface markers (lin), such as CD31, CD45, CD146, EpCAM (CD326), TER119, and Lyve-1 were not expressed in myofibroblasts or fibroblasts. Fibroblasts of bleomycin-injured lungs and saline-treated lungs were shown to be enriched in linneg Sca-1high, and myofibroblasts of bleomycin-injured lungs were shown to be enriched in linneg Sca-1low CD49ehigh. Results from in-vitro proliferation assays indicated in-vitro proliferation of fibroblasts but not myofibroblasts of bleomycin-injured lungs and of fibroblasts of saline-treated lungs. However, fibroblasts and myofibroblasts might have a low proliferative capacity in vivo. Analysis of genes for collagen and collagen synthesis enzymes by qRT-PCR showed that the expression levels of about half of the genes were significantly higher in fibroblasts and myofibroblasts of bleomycin-injured lungs than in fibroblasts of saline-treated lungs. By contrast, the expression levels of 8 of 11 chemokine genes of myofibroblasts were significantly lower than those of fibroblasts.

Conclusions
This is the first study showing a direct isolation method of myofibroblasts and fibroblasts from injured lungs. We demonstrated functional similarities and differences between myofibroblasts and fibroblasts in terms of both their proliferative capacity and the expression levels of genes for collagen, collagen synthesis enzymes, and chemokines. Thus, this direct isolation method has great potential for obtaining useful information from myofibroblasts and fibroblasts.
Assessing the importance of burrows through behavioral observations of Parastacus brasiliensis, a Neotropical burrowing crayfish (Crustacea), in laboratory conditions
Authors: Palaoro Alexandre V , Dalosto Marcelo M , Coutinho Cadidja , Santos Sandro 
Published: August 2013

Abstract

Background
Crayfish from the Neotropical region comprise a unique group among crustaceans. Their burrowing habits have severe consequences for many ecological, morphological, and behavioral traits. Although they are all considered true burrowers, the degree of these adaptations and their relationships to the behavioral repertoires of these crustaceans have been discussed for a long time, although with no consensus.

Results
To address this situation, we performed behavioral observations of Parastacus brasiliensis in a laboratory environment. Animals (n = 7) were isolated and acclimated in experimental aquaria according to their size (two large and five smaller aquaria) and observed for seven days at four different times of the day (twice during the day and twice at night). Their behaviors were qualified and quantified. The time spent inside and outside the burrow was also observed and analyzed with a t test for paired samples. Their circadian activity was analyzed using Rayleigh's Z test. Animals spent 54.9% of the time hiding within the burrow and also remained longer in it during the day than at night. They spent more time active outside the burrow during the night.

Conclusions
These results suggest that these crayfish are nocturnal and are definitely not a part of the lotic species group. This species appears to be closely associated with its burrow but can exhibit considerable activity outside of it and can therefore be classified as a secondary burrower. Although this is a laboratory study, the results may stimulate further studies on the importance of burrows to these animals and provide basic background information for new studies on these cryptic crustaceans.