bluuebunny/crossref_metadata_2025_split huggingface dataset:
A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report
Authors: Wu Xia , Wang Wenhong , Liu Yan , Chen Wenyu , Zhao Linsheng 
Published: October 2019

Abstract

Background
Treatment of steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatricians. SRNS accounts for 10~20% of childhood cases of nephrotic syndrome (NS). Individuals with SRNS overwhelmingly progress to chronic kidney disease (CKD) and end-stage kidney disease (ESRD). Genetic research is of great significance for diagnosis and treatment. More than 39 recessive or dominant genes have been found to cause human SRNS, including COQ2. COQ2 gene mutations not only cause primary coenzyme Q10 deficiency but also cause SRNS without extrarenal manifestations. The concept of COQ2 nephropathy has been proposed for a long time. Mutations in the COQ2 gene have rarely been reported. Worldwide, only 5 cases involving 4 families have been reported.

Case presentation
We present the case of a 6-month-old girl with steroid-resistant glomerulopathy due to a COQ2 defect with no additional systemic symptoms. The patient was identified as a homozygote for the c.832 T > C (p. Cys278Arg) missense mutation and a single base homozygous mutation in ARSB gene in c.1213 + 1G > A. The father and mother were heterozygous mutation carriers in both COQ2 and ARSB, and her healthy sister was only a heterozygous mutation carrier in COQ2. In this case, hormone therapy was ineffective, and progressive deterioration of renal function occurred within 1 week after onset, leading to acute renal failure and eventual death.

Conclusions
We reported a consanguinity married family which had COQ2 and ARSB dual mutant. Kidney diseases caused by COQ2 gene mutations can manifest as SRNS, with poor prognosis. The C. 832 T > c (p.csc 278arg) is a new mutation site. Genetic assessment for children with steroid-resistant nephrotic syndrome, especially in infancy, is very important. Families with a clear family history should receive genetic counselling and prenatal examinations, and children without a family phenotype should also receive genetic screening as early as possible.
Clinical practice guideline management of blood borne viruses within the haemodialysis unit
Authors: Garthwaite Elizabeth , Reddy Veena , Douthwaite Sam , Lines Simon , Tyerman Kay , Eccles James 
Published: October 2019

AbstractSome people who are receiving dialysis treatment have virus infection such as hepatitis B, hepatitis C and/or HIV that is present in their blood. These infections can be transmitted to other patients if blood is contaminated by the blood of another with a viral infection. Haemodialysis is performed by passing blood from a patient through a dialysis machine, and multiple patients receive dialysis within a dialysis unit. Therefore, there is a risk that these viruses may be transmitted around the dialysis session. This documents sets out recommendations for minimising this risk.There are sections describing how machines and equipment should be cleaned between patients. There are also recommendations for dialysing patients with hepatitis B away from patients who do not have hepatitis B. Patients should be immunised against hepatitis B, ideally before starting dialysis if this is possible. There are guidelines on how and when to do this, for checking whether immunisation is effective, and for administering booster doses of vaccine. Finally there is a section on the measures that should be taken if a patient receiving dialysis is identified as having a new infection of hepatitis B, hepatitis C or HIV.
Urinary cell-free mitochondrial and nuclear deoxyribonucleic acid correlates with the prognosis of chronic kidney diseases
Authors: Chang Chia-Chu , Chiu Ping-Fang , Wu Chia-Lin , Kuo Cheng-Ling , Huang Ching-Shan , Liu Chin-San , Huang Ching-Hui 
Published: October 2019

Abstract

Introduction
Cell-free deoxyribonucleic acid DNA (cf-DNA) in urine is promising due to the advantage of urine as an easily obtained and non-invasive sample source over tissue and blood. In clinical practice, it is important to identify non-invasive biomarkers of chronic kidney disease (CKD) in monitoring and surveillance of disease progression. Information is limited, however, regarding the relationship between urine and plasma cf-DNA and the renal outcome in CKD patients.

Methods
One hundred and thirty-one CKD patients were enrolled between January 2016 and September 2018. Baseline urine and plasma cell-free mitochondrial DNA (cf-mtDNA) and cell-free nuclear DNA (cf-nDNA) were isolated using quantitative real-time PCR. Estimated glomerular filtration rate (eGFR) measurement was performed at baseline and 6-month follow-up. Favorable renal outcome was defined as eGFR at 6 months minus baseline eGFR> = 0. Receiver operator characteristics (ROC) curve analysis was performed to assess different samples of cf-DNA to predict favorable renal outcomes at 6 months. A multivariate linear regression model was used to evaluate independent associations between possible predictors and different samples of cf-DNA.

Results
Patients with an advanced stage of CKD has significantly low plasma cf-nDNA and high plasma neutrophil gelatinase-associated lipocalin (NGAL) levels. Low urine cf-mtDNA, cf-nDNA levels and low plasma NGAL were significantly correlated with favorable renal outcomes at 6 months. The urine albumin-creatinine ratio (ACR) or urine protein-creatinine ratio (PCR) level is a robust predictor of cf-mtDNA and cf-nDNA in CKD patients. Baseline urine levels of cf-mtDNA and cf-nDNA could predict renal outcomes at 6 months.

Conclusions
Urinary cf-mtDNA and cf-nDNA may provide novel prognostic biomarkers for renal outcome in CKD patients. The levels of plasma cf-nDNA and plasma NGAL are significantly correlated with the severity of CKD.
Burden of relapsing-remitting multiple sclerosis on workers in the US: a cross-sectional analysis of survey data
Authors: Nicholas Jacqueline A. , Electricwala Batul , Lee Lulu K. , Johnson Kristen M. 
Published: October 2019

Abstract

Background
Multiple sclerosis (MS) is prevalent among working age individuals (20–60 years), leading to high burden on work productivity. Few data are available about the absenteeism and presenteeism in employed individuals with MS in comparison to non-MS personnel. This study aimed to quantify the burden of illness of employed US adults with relapsing-remitting multiple sclerosis (RRMS) and examine burden by levels of work impairment.

Methods
A retrospective cross-sectional analysis was conducted using patient-reported responses from the US National Health and Wellness Survey (NHWS). Data from NHWS 2015–2016 were analyzed from 196 employed RRMS respondents who were matched 1:4 to employed respondents without MS based on demographic and general health characteristics. Demographic and general health characteristics for employed RRMS individuals were analyzed by levels of work impairment (none, 1–30%; 31–68%; 69–100%). Work productivity (absenteeism, presenteeism, and work impairment), decrements in health-related quality of life (HRQoL) (short form-36, EQ-5D), and healthcare resource utilization (HCRU) were compared to determine the burden of RRMS.

Results
After propensity score matching, the levels of absenteeism and presenteeism were 2 and 1.8 times higher in the employed RRMS population than the employed non-MS population, respectively (P < 0.001 for both). HRQoL was significantly lower in employed respondents with RRMS than those without MS (P < 0.001 for all). Employed respondents with RRMS had significantly more HCRU over 6 months compared to those without MS (P < 0.001). Furthermore, among employed RRMS respondents, greater levels of impairment were associated with increasing disease severity, greater healthcare resource use, fatigue, and cognitive impairment and inversely associated with mental and physical HRQoL (P < 0.0001 for all).

Conclusions
Among employed individuals, respondents with RRMS had lower, work productivity, HRQoL, and higher HCRU as compared with those without MS. Given the large impact RRMS has on work impairment, a need exists to manage individuals on therapies that improve HRQoL, reduce symptoms, and improve their ability to perform in the workforce.
Policymaker, health provider and community perspectives on male involvement during pregnancy in southern Mozambique: a qualitative study
Authors: Galle Anna , Cossa Helio , Griffin Sally , Osman Nafissa , Roelens Kristien , Degomme Olivier 
Published: October 2019

Abstract

Background
Increasing male involvement during pregnancy is considered an important, but often overlooked intervention for improving maternal health in sub-Saharan Africa. Intervention studies aimed at improving maternal health mostly target mothers hereby ignoring the crucial role their partners play in their ability to access antenatal care (ANC) and to prevent and treat infectious diseases like HIV and malaria. Very little is known about the current level of male involvement and barriers at different levels. This study explores the attitudes and beliefs of health policymakers, health care providers and local communities regarding men’s involvement in maternal health in southern Mozambique.

Methods
Ten key informant interviews with stakeholders were carried out to assess their attitudes and perspectives regarding male involvement in programmes addressing maternal health, followed by 11 days of semi structured observations in health care centers. Subsequently 16 focus group discussions were conducted in the community and at provider level, followed by three in depth couple interviews. Analysis was done by applying a socio-ecological systems theory in thematic analysis.

Results
Results show a lack of strategy and coherence at policy level to stimulate male involvement in maternal health programmes. Invitation cards for men are used as an isolated intervention in health facilities but these have not lead to the expected success. Providers have a rather passive attitude towards male involvement initiatives. In the community however, male attendance at ANC is considered important and men are willing to take a more participating role. Main barriers are the association of male attendance at ANC with being HIV infected and strong social norms and gender roles. On the one hand men are seen as caretakers of the family by providing money and making the decisions. On the other hand, men supporting their wife by showing interest in their health or sharing household tasks are seen as weak or as a manifestation of HIV seropositivity.

Conclusion
A clear strategy at policy level and a multi-level approach is needed. Gender-equitable relationships between men and women should be encouraged in all maternal health interventions and providers should be trained to involve men in ANC.
Comprehensive transcriptomic analyses of tissue, serum, and serum exosomes from hepatocellular carcinoma patients
Authors: Mjelle Robin , Dima Simona O. , Bacalbasa Nicolae , Chawla Konika , Sorop Andrei , Cucu Dana , Herlea Vlad , Sætrom Pål , Popescu Irinel 
Published: October 2019

Abstract

Background
The expression of microRNAs (miRNAs) is a promising prognostic and diagnostic tool in hepatocellular carcinoma (HCC). Here we performed small RNA sequencing (sRNA-seq) of tissue, serum and serum exosomes to investigate changes in miRNA expression between the different sample types and correlated the expression with clinical parameters. We also performed gene expression arrays on tumor and normal tissue.

Results
Paired tissue, serum and serum exosomes sequencing revealed consistent positive correlation of miR-21 between serum exosomes and tumor tissue, indicating that miR-21 could be exported from tissue to circulation via exosomes. We found that let-7 miRNAs are generally upregulated in serum exosomes compared to whole serum, indicating that these miRNAs could be preferentially loaded into exosomes. Comparing serum from HCC patients with serum from healthy individuals revealed a global increase of miRNAs in serum from HCC patients, including an almost 4-fold increase of several miRNAs, including the liver-specific miR-122. When correlating miRNA expression with clinical parameters we detected significant association between hepatitis B virus (HBV) infection and miR-122 in serum as well as several serum and tissue-miRNAs that correlated with surgery type. We found that miR-141 and miR-146 correlated with cirrhosis in tumor tissue and normal tissue, respectively. Finally, high expression of miR-21 in tumors were associated with poor survival. Focusing on gene expression we found several significant messenger RNAs (mRNAs) between tumor and normal tissue and a Gene Ontology (GO) analysis revealed that these changes were mainly related to cell cycle and metabolism. Further, we detected mRNAs that correlated with cirrhosis and HBV infection in tissue. Finally, GO analysis of predicted targets for miRNAs down-regulated in tumor found that these were enriched for functions related to collagen synthesis.

Conclusions
Our combined data point to altered miRNA and mRNA expression contributing to both generally impaired lipid metabolism and increased cell proliferation and a miRNA-driven increase in collagen synthesis in HCC. Our results further indicate a correlation in miRNA expression between exosomes, serum, and tissue samples suggesting export from tumors via exosomes. This correlation could provide a basis for a more tumor-specific miRNA profile in serum.
Determinants of shisha use among secondary school students in Sudan
Authors: Othman Mohammed , Aghamohammadi Nasrin , Nik Farid Nik Daliana 
Published: October 2019

Abstract

Background
Shisha smoking has re-emerged in the Middle East in the last two decades and has spread rapidly in these communities. Information about shisha smoking in adolescents in Sudan is deficient. Hence, the aim of this study is to estimate the prevalence of shisha smoking among adolescents and determine the associated factors.

Methods
This study is a school based cross sectional study among secondary school students in Khartoum State - Sudan that targets both male and female students aged 14–17 years. A total of 3387 students from 29 public and private schools were selected by multi stage random sampling. The participants completed an anonymous self-administered questionnaire which was based on Arabic version of the Global Youth Tobacco Survey (GYTS).

Results
The response rate was 100% in schools and among participants, 57.3% were females and 51.6% were from public schools. The overall prevalence of those who had ever smoked shisha was 13.4%, and among male students the prevalence was 16.8%, while it was 10.9% in females.
The associated factors were poor academic performance OR 2.90 CI 95% (1.21–6.94), friends smoking shisha OR 2.39 CI 95% (1.65–3.45), friends smoking cigarettes OR 2.76 CI 95% (1.90–4.01), peer pressure to smoke shisha OR 13.76 CI 95% (7.86–24.07) and unexpectedly restriction of selling shisha to minors OR 2.21 CI 95% (1.28–3.82).

Conclusion
The prevalence of those who had ever smoked shisha is among the lowest in Middle East region; therefore, regular surveillance system is needed. A well-structured peer based comprehensive tobacco control programmes that are supported by strict and rigorous anti-tobacco regulations which control both commercial and social resources of tobacco are needed to contain this issue among adolescents.
Alcohol use and sexual risk behaviors in the Armed Forces of the Democratic Republic of the Congo
Authors: Tran Bonnie Robin , Davis Anthony , Sloan Margo , Macera Carol , Mbuyi Anthony Mutombe , Kabanda Gilbert Kurhgnga 
Published: October 2019

Abstract

Background
Alcohol misuse is an important contributor to sexual acquisition and transmission of HIV in military communities. This cross-sectional study quantified the prevalence of probable problematic alcohol use among male service members in the Armed Forces of the Democratic Republic of the Congo (FARDC), identified associated factors, and investigated associations of alcohol misuse with risky sexual behaviors.

Methods
Participants included 2549 active duty male soldiers ≥ 18 years old. Data were collected via computer-assisted personal-interview from October 2013–April 2014. The Alcohol Use Disorders Identification Test (AUDIT) was used to identify probable problematic alcohol use (AUDIT score ≥ 8) compared to no/low-risk alcohol use (AUDIT score ≤ 7). Bivariate logistic regressions were used to identify factors associated with probable problematic alcohol use. Several multivariable logistic regressions (adjusted for age, marital status, education level) were used to examine associations of probable problematic alcohol use with risky sexual behaviors. Tests were two sided; statistical significance was defined as p < 0.05.

Results
Fifteen percent of men screened positive for probable problematic alcohol use. The odds of probable problematic alcohol use were elevated among men who were single and living with a partner (OR = 1.66; 95% CI = 1.24–2.21), ranked as a non-commissioned officer [NCO] (OR = 1.40; 95% CI = 1.10–1.77), and in the 30–39 and 40–49 age groups (OR 30–39 age group = 2.17; 95% CI = 1.56–3.02; OR 40–49 age group = 1.79; 95% CI = 1.26–2.55). Probable problematic alcohol use was associated with increased odds of having sex with a sex worker (SW), having multiple sexual partners, and participating in transactional sex (aOR sex with a SW = 2.36; 95% CI = 1.78–3.13; aOR multiple sexual partners = 2.08; 95% CI = 1.66–2.60; aOR transactional sex = 1.99; 95% CI = 1.59–2.50).

Conclusions
Results emphasize the need to address alcohol use in the FARDC and integrate alcohol abuse education into HIV prevention programs among male service members. Alcohol abuse prevention efforts should target men who are 30–49 years of age, unmarried, and ranked as a NCO. Messages and interventions to reduce alcohol misuse in relation to risky sexual behaviors are needed.
The costs of traumatic head injury and associated factors at University of Gondar Specialized Referral Hospital, Northwest Ethiopia
Authors: Asmamaw Yilak , Yitayal Mezgebu , Debie Ayal , Handebo Simegnew 
Published: October 2019

AbstractBackgroundHead injuries account for 650,000 annual deaths worldwide. The cost for treating head injury was estimated at US $200 million annually. This contributes to economic impoverishment in low income countries like Ethiopia. Hence, this study was aimed to assess the cost of Traumatic Head Injury (THI) and associated factors in the University of Gondar Specialized Referral Hospital.MethodAn institution-based cross-sectional study was conducted from March 01 to May 30, 2017. A total of 387 THI patients were included in the study. An interviewer-administered questionnaire was used for data collection. Direct costs and indirect costs were measured by using the bottom-up approach. Data were entered into Epi-Info version 7 and imported to SPSS version 20 for analysis. Simple and multiple linear regression analysis were done to identify factors associated with cost of THI.ResultsThe mean cost of THI per patient was 4673.43 Ethiopian Birr (ETB), 95% CI (4523.6-4823.3), and length of hospital stay averaged 1.73, 95% CI (1.63–1.82). Direct non-medical cost, like transportation fee 1896.19 ETB (±762.56 SD) and medical costs 1101.66 ETB (±534.13 SD) were account for 40.57 and 23.58% of total costs respectively. The indirect cost, loss of income by patient and their attendant due to injury, was 1675.58 ETB (+ 459.26 SD). Patients with moderate and severe levels of injury have 635.167 ETB (Standardized coefficient = 0.173,p < 0.001) and 773.621 ETB (Standardized coefficient = 0. 132, p < 0.001) increased costs, respectively, compared to mild level THI patients. Costs for patients ages 31–45 years were 252.504 ETB (Standardized coefficient = − 0.066,p = 0.046) lower than costs for those 5–14 years old. The cost of THI patients increased by 1022.853 ETB for each additional day of hospital length of stay (Standardized coefficient = 0.648,p < 0.001).ConclusionMost expenses of the THI were from direct non-medical cost. Prior health service use, length of stay, level of injury, and age were significant predictors of cost of THI.
Outcomes of colorectal cancer surgery in the nonagenarians: 20-year result from a tertiary center
Authors: Chan Toi Yin , Foo Chi Chung , Law Wai Lun , Lo Oswens 
Published: October 2019

AbstractBackgroundThere is a foreseeable trend that life expectancy is on the rise in many parts of the world. More and more patients will present with colorectal cancer at extreme old age and advanced age is a well-known risk factor for adverse outcomes after surgery. The aim of this study is to evaluate the outcomes of colorectal cancer surgery in patients aged 90 or above.MethodA retrospective analysis of consecutive patients aged 90 or above who underwent operations for colorectal cancer between January 1996 and December 2015 was performed. The primary outcomes were the complications rate, 30-day and 180-day mortality rates.ResultsA total of 57 patients were included in the analysis. The majority of them were women (64.9%). The median age was 92 years. Most of the surgery was of curative intent (77.2%), performed under elective setting (57.9%) and with open approach (78.9%). 36.8% of patients had postoperative complications, with pneumonia being the commonest. The 30-day and 180-day mortality rate was 7 and 31.6% respectively. History of ischemic heart disease and surgery under emergency setting were predictors of postoperative complications. Pneumonia, preoperative leukocytosis and Charlson comorbidity score ≥ 9 were predictors of 180-day mortality. The one and two-year survival rate for elective surgery was 69.7 and 54.5% respectively.ConclusionThe outcomes of colorectal cancer surgery for nonagenarians could be favorable in a selected group of patients. Future study on better risk profiling and ways to improve outcomes is warranted.