bluuebunny/crossref_metadata_2025 huggingface dataset:
Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome
Authors: Gholizad-kolveiri Soraya , Hooman Nakysa , Alizadeh Rasoul , Hoseini Rozita , Otukesh Hasan , Talebi Saeed , Akouchekian Mansoureh
Published: August 2020

Background

Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS is a dysregulation in the alternative complement pathway. Mutations in none complement genes such as diacylglycerol kinase epsilon (DGKE) can also result in this syndrome.

Case presentation

Here, we report on a 19-year-old female with the clinical diagnosis of aHUS, who has unaffected consanguineous parents and an older sibling who was deceased from aHUS when she was seven months old.

We performed whole exome sequencing (WES) followed by evaluation of detected variants for functional significance, using several online prediction tools. Next, in order to confirm the detected pathogenic variant in proband and segregation analysis in her family, Sanger sequencing was done. The novel variant was analyzed in terms of its impact on the protein 3-dimensional structure by computational structural modeling.

The results revealed that the proband carried a novel homozygous missense variant in DGKE located in exon 6 of the gene (NM_003647.3, c.942C > G [p.Asn314Lys]), and in silico analysis anticipated it as damaging. Protein computational study confirmed the influence of potential pathogenic variant on structural stability and protein function.

Conclusion

We suggest that some variations in the catalytic domain of DGKE like p.Asn314Lys which can cause alterations in secondary and 3-D structure of protein, might lead to aHUS.
Alpha thalassemia genotypes in Kuwait
Authors: Adekile Adekunle , Sukumaran Jalaja , Thomas Diana , D’Souza Thomas , Haider Mohammad
Published: August 2020

Background

The frequency of the alpha thalassemia trait is approximately 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles. This is a report of patients who were referred for molecular diagnosis over a 20-year period.

Methods

This is a retrospective study of the α-globin genotypes obtained in the Hemoglobin Research Laboratory of the Department of Pediatrics, Kuwait University from 1994 to 2015. Genotyping was performed by a combination of PCR, allele-specific oligonucleotide hybridization and reverse dot blot hybridization (Vienna Lab Strip Assay).

Results

Four hundred samples were characterized and analyzed from individuals aged < 1 month to 80 years, with a median of 6 years from 283 unrelated families. Most (90.8%) were Kuwaiti nationals. The commonest genotype was homozygosity for the polyadenylation-1 mutation (αPA-1α/α PA-1α) in 33.3% of the samples, followed by heterozygosity (αα/α PA-1α) for the same mutation in 32.3%. PA-1 was therefore the most frequent allele (0.59). The frequency of the α0 (−-MED) allele was 0.017. Rare alleles that were found in very low frequencies included α0 (−-FIL) in a Filipino child, Hb Constant Spring, Hb Adana, and Hb Icaria.

Conclusion

There is a wide variety of alpha thalassemia alleles among Kuwaitis, but nondeletional PA-1 is by far the most common cause of the moderate to severe HbH (β4 tetramer) disease phenotype. The α0 (−MED) allele is also encountered, which has implications for premarital counseling, especially for the possibility of having babies with alpha thalassemia major (Barts hydrops fetalis).
Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature
Authors: Matsuoka Daisuke , Noda Shunsuke , Kamiya Motoko , Hidaka Yoshihiko , Shimojo Hisashi , Yamada Yasushi , Miyamoto Tsutomu , Nozu Kandai , Iijima Kazumoto , Tsukaguchi Hiroyasu
Published: August 2020

Background

Mutations in the Wilms tumor 1 gene cause a spectrum of podocytopathy ranging from diffuse mesangial sclerosis to focal segmental glomerulosclerosis. In a considerable fraction of patients with Wilms tumor 1 mutations, the distinctive histology of immune-complex-type glomerulonephritis has been reported. However, the clinical relevance and etiologic mechanisms remain unknown.

Case presentation

A 5-year-old child presented with steroid-resistant nephrotic range proteinuria. Initial renal biopsy revealed predominant diffuse mesangial proliferation with a double-contour and coexisting milder changes of focal segmental glomerulosclerosis. Immunofluorescence and electron microscopy revealed a full-house-pattern deposition of immune complexes in the subendothelial and paramesangial areas. Serial biopsies at 6 and 8 years of age revealed that more remarkable changes of focal segmental glomerulosclerosis had developed on top of the initial proliferative glomerulonephritis. Identification of a de novo Wilms tumor 1 splice donor-site mutation in intron 9 (NM_024426.6:c.1447 + 4C > T) and 46,XY-gonadal dysgenesis led to the diagnosis of Frasier syndrome.

Conclusions

Our findings, together with those of others, point to the importance of heterogeneity in clinicopathological phenotypes caused by Wilms tumor 1 mutations and suggest that immune-complex-mediated membranoproliferative glomerulopathy should be considered as a histological variant.
A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan
Authors: Hamasaki Yuko , Hamada Riku , Muramatsu Masaki , Matsumoto Shinsuke , Aya Kunihiko , Ishikura Kenji , Kaneko Tetsuji , Iijima Kazumoto
Published: August 2020

Background

Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. In Japan, there is a lack of knowledge regarding the characteristics of CNS and INS. This study aimed to clarify the characteristics of CNS and INS in Japan.

Methods

This cross-sectional nationwide survey obtained data from 44 institutions in Japan managing 92 patients with CNS or INS, by means of two survey questionnaires sent by postal mail. Patients aged < 16 years by 1 April 2015, with a diagnosis of CNS or INS, were included in this study. The primary outcome was end-stage kidney disease.

Results

A total of 83 patients with CNS or INS were analyzed. The most frequent disease type was non-Finnish (60.2%); 33 patients (39.8%) had Finnish type. Among those with non-Finnish-type disease, 26 had no syndrome and 24 had a syndrome, of which the most frequent was Denys–Drash syndrome (70.8%). Patients with non-Finnish-type disease with syndrome showed the earliest progression to end-stage kidney disease compared with the other two groups, whereas patients with non-Finnish-type disease without syndrome progressed more slowly compared with the other two groups. In the Finnish-type group, the disease was diagnosed the earliest; a large placenta was reported more frequently; genetic testing was more frequently performed (93.8%); mental retardation was the most frequent extra-renal symptom (21.2%); and thrombosis and infection were more frequent compared with the other groups. Patients with non-Finnish-type disease with syndrome had a higher frequency of positive extra-renal symptoms (79.2%), the most common being urogenital symptoms (54.2%). Treatment with steroids and immunosuppressants was more frequent among patients with non-Finnish-type disease without syndrome. Two patients with non-Finnish-type disease without syndrome achieved complete remission. In all groups, unilateral nephrectomy was performed more often than bilateral nephrectomy and peritoneal dialysis was the most common renal replacement therapy.

Conclusions

The present epidemiological survey sheds light on the characteristics of children with CNS and INS in Japan. A high proportion of patients underwent genetic examination, and patient management was in accord with current treatment recommendations and practices.

Trial registration

Not applicable.
Investigating the current knowledge and needs concerning a follow-up for long-term cardiovascular risks in Dutch women with a preeclampsia history: a qualitative study
Authors: Dijkhuis Tessa E. , Bloem Femke , Kusters Lise A.J. , Roos Sofie M. , Gordijn Sanne J. , Holvast Floor , Prins Jelmer R.
Published: August 2020

Background

There is increasing evidence that a history of preeclampsia is an important risk factor for future cardiovascular events. Awareness of this risk could provide opportunities for identification of women at risk, with opportunities for prevention and / or early intervention. A standardized follow-up has not yet been implemented in the north of the Netherlands. The objective of this qualitative study was to explore the opinions and wishes among women and physicians about the follow-up for women with a history of preeclampsia.

Methods

Semi-structured interviews with 15 women and 14 physicians (5 obstetricians, 4 general practitioners, 3 vascular medicine specialists and 2 cardiologists) were performed and addressed topics about knowledge on CVR, current - and future follow-up. Women were approached through the HELLP foundation and their physicians. Physicians were approached by email. The interviews were recorded, typed and coded using ATLAS.ti software. A theoretical-driven thematic analysis was performed.

Results

Women had some knowledge about the association between preeclampsia and the increased CVR, but missed information from their health care providers. Specialists were aware of the association, but the information and advice they provided to their patients was minimal and inconsistent according to themselves. Whereas some general practitioners regarded their own knowledge as limited. There was a clear desire among women for a more extensive follow-up with specific attention to both emotional and physical consequences of preeclampsia. Physicians indicated that they preferred to see a follow up program concerning the CVR at the general practitioner as part of the already existent cardiovascular risk management (CVRM) program.

Conclusion

Women and medical specialists consider it important to improve aftercare for women after a pregnancy complicated by preeclampsia. Introducing these women into the CVRM program at the general practitioner is regarded as a preferred first step. Further research is warranted to establish an evidence-based guideline for the follow-up of these women.
Prognostic significance of autophagy-related genes within esophageal carcinoma
Authors: Chen Chongxiang , Chen Siliang , Cao Huijiao , Wang Jiaojiao , Wen Tianmeng , Hu Xiaochun , Li Huan
Published: August 2020

Background

Several works suggest the importance of autophagy during esophageal carcinoma development. The aim of the study is to construct a scoring system according to the expression profiles of major autophagy-related genes (ARGs) among esophageal carcinoma cases.

Methods

The Cancer Genome Atlas was employed to obtain the esophageal carcinoma data. Thereafter, the online database Oncolnc (http://www.oncolnc.org/) was employed to verify the accuracy of our results. According to our results, the included ARGs were related to overall survival (OS).

Results

We detected the expression patterns of ARG within esophageal carcinoma and normal esophageal tissues. In addition, we identified the autophagy related gene set, including 14 genes displaying remarkable significance in predicting the esophageal carcinoma prognosis. The cox regression results showed that, 7 ARGs (including TBK1, ATG5, HSP90AB1, VAMP7, DNAJB1, GABARAPL2, and MAP2K7) were screened to calculate the ARGs scores. Typically, patients with higher ARGs scores were associated with poorer OS. Moreover, the receiver operating characteristic (ROC) curve analysis suggested that, ARGs accurately distinguished the healthy people from esophageal carcinoma patients, with the area under curve (AUC) value of > 0.6.

Conclusion

A scoring system is constructed in this study based on the main ARGs, which accurately predicts the outcomes for esophageal carcinoma.
Endothelial activation and stress index (EASIX) is a reliable predictor for overall survival in patients with multiple myeloma
Authors: Song Ga-Young , Jung Sung-Hoon , Kim Kihyun , Kim Seok Jin , Yoon Sang Eun , Lee Ho Sup , Kim Mihee , Ahn Seo-Yeon , Ahn Jae-Sook , Yang Deok-Hwan , Kim Hyeoung-Joon , Lee Je-Jung
Published: August 2020

Background

Recently, the endothelial Activation and Stress Index (EASIX) score has been reported to predict overall survival (OS) after allogeneic stem cell transplantation. This study evaluated the prognostic role of EASIX score in patients with newly diagnosed multiple myeloma (MM).

Methods

This retrospective study analyzed the records of 1177 patients with newly diagnosed MM between February 2003 and December 2017 from three institutions in the Republic of Korea. Serum lactate dehydrogenase (LDH), creatinine, and platelet count at diagnosis were measured in all included patients. EASIX scores were calculated using the formula-LDH (U/L) × Creatinine (mg/dL) / platelet count (109/L) and were evaluated based on log2 transformed values.

Results

The median age of patients was 63 years (range, 22–92), and 495 patients (42.1%) underwent autologous stem cell transplantation (ASCT). The median log2 EASIX score at diagnosis was 1.1 (IQR 0.3–2.3). Using maximally selected log-rank statistics, the optimal EASIX cutoff value for OS was 1.87 on the log2 scale (95% CI 0.562–0.619, p < 0.001). After median follow-up for 50.0 months (range, 0.3–184.1), the median OS was 58.2 months (95% CI 53.644–62.674). Overall, 372 patients (31.6%) showed high EASIX scores at diagnosis, and had significantly inferior OS compared to those with low EASIX (log2 EASIX ≤1.87) (39.1 months vs. 67.2 months, p < 0.001). In multivariate Cox analysis, high EASIX was significantly associated with poor OS (HR 1.444, 95% CI 1.170–1.780, p = 0.001). In the subgroup analysis of patients who underwent ASCT, patients with high EASIX showed significantly inferior OS compared to those with low EASIX (52.8 months vs. 87.0 months, p < 0.001). In addition, in each group of ISS I, II, and III, high EASIX was associated with significantly inferior OS (ISS 1, 45.2 months vs. 76.0 months, p = 0.001; ISS 2, 42.3 months vs. 66.5 months, p = 0.002; ISS 3, 36.8 months vs. 55.1 months, p = 0.001).

Conclusion

EASIX score at diagnosis is a simple and strong predictor for OS in patients with newly diagnosed MM.
Feeding practices in 6–24-month-old children with chronic cholestatic liver diseases: a mixed-method study
Authors: Chen Xiao , Wang Jianshe , Lu Yi , Xie Xinbao , Gu Ying , Latour Jos M. , Zhang Yuxia
Published: August 2020

Background

Children with chronic cholestatic liver diseases have a high risk of malnutrition. However, nutritional management in China has received little attention, and there has been limited evidence regarding improving these practices. This study aimed to evaluate the feeding status of chronic cholestatic children aged 6–24 months and to explore their parents’ experiences with feeding practices.

Methods

A mixed-method study was conducted among parents of 74 children with chronic cholestatic liver diseases. The Infant and Young Child Feeding Index (ICFI) was used to collect quantitative data of feeding practices. In-depth interviews with parents were performed to generate qualitative data. Multivariate analysis was conducted to identify predictors of inappropriate feeding practices. Qualitative data were analyzed using thematic analysis.

Results

Only 16.2% of the children had appropriate feeding practices. In terms of dairy products, the rate of breastfeeding, medium-chain triglyceride formula feeding, and regular formula feeding were 25.7, 39.2 and 44.6% respectively. The complementary feeding rate was 68.8%, and the age of adding complementary foods was 6.9 ± 1.7 months. Consumption of foods from animal sources was suboptimal, 66.7% of the children aged 6–8 months and 45.5% of the children aged 9–11 months had carbohydrates as a single source of complementary foods and had no intake of meat, eggs or bean products, while in the age group 12–24 months, 52.0% of the children had eggs less than 2 days/week, 60.0% had meat less than 2 days/week, and 60.0% had no intake of bean products. Low literacy of the primary care provider was significantly related to inappropriate feeding practices (adjusted OR 5.52; 95% CI 1.29, 23.66). The result of the interviews indicated that parents generally lacked the scientific knowledge of feeding and thought that the intake of animal source foods and oils would be a burden to the liver and cause damage to the liver functions.

Conclusion

Parents generally lacked science-based feeding knowledge and the feeding practices in 6–24-month-old children diagnosed with chronic cholestatic liver diseases fell short of the recommendations in current nutritional guidelines. Appropriate interventions targeting social and cultural family circumstances should therefore be included in supporting parents in feeding practices to improve children’s clinical outcomes.
Cholinergic innervation and ganglion cell distribution in Hirschsprung’s disease
Authors: Braczynski Anne K. , Gfroerer Stefan , Beschorner Rudi , Harter Patrick N. , Baumgarten Peter , Rolle Udo , Mittelbronn Michel
Published: August 2020

Background

The diagnostic gold standard of Hirschsprung’s disease (HD) is based on the histopathological assessment of colorectal biopsies. Although data on cholinergic innervation and ganglion cell (GC) distribution exist, only few studies have examined these two key features together. We assessed the pattern of cholinergic innervation and the amount of GCs in colorectal specimens of 14 HD patients.

Methods

We established a semi-quantitative score for cholinergic innervation using acetylcholinesterase (AChE) enzyme histochemistry and quantitatively analyzed the number of GCs via NADH tetrazolium reductase (NADH) enzyme histochemistry. We examined both the entire length of the resected specimens as well as defined areas of the transition zone of both pathological and healthy appearing segment.

Results

High AChE score values were associated with absence of GCs, and AChE scores were inversely correlated with the number of GCs. Nevertheless, we observed several cases in which one of the two features revealed a normal distribution pattern, whereas the other still displayed pathological features.

Conclusions

Our data support the need for transmural colon biopsies, to enable the best evaluation of both cholinergic innervation and GCs for a reliable assessment of HD.
Knowledge of malaria prevention and control methods and associated factors among rural households in west Belessa district, north west Ethiopia, 2019
Authors: Aragie Tsigie Baye
Published: August 2020

Background

In Ethiopia malaria is one of the top ten leading causes of morbidity and mortality. Community knowledge of prevention and control methods had been proven to play an important role in the implementation of effective and sustainable interventions against malaria. This information is limited in the study area. This study aimed to assess knowledge of malaria prevention and control methods and its associated factors among households in West Belessa district, 2019.

Methods

Community-based cross-sectional mixed quantitative and qualitative study was conducted from April to June 2019 in West Belessa district, North West Ethiopia. Multistage sampling was used to select an estimated 770 sample size. A structured questionnaire was used for the quantitative component and semi-structured questionnaire for the qualitative component. Quantitative data were collected by interviewing and qualitative data using focus group discussion (FGD). Quantitative data was coded and entered using Epi info software version 7 then exported to SPSS version 20 for analysis. The binary logistic regression model was fitted to identify the associated factors. Odds Ratio (OR) with 95% Confidence Interval (CI) was used to assess the strength of association. The qualitative data was transcribed manually using the thematic approach.

Result

A total of 770 subjects were included in this study with a 99.5% response rate. Of the total respondents, 75.6% had good knowledge of malaria prevention methods. LLINs and IRS were mentioned by 84.7 and 83.7% respectively. Poorest wealth quintiles [AOR = 0.40, 95% CI: 0.23, 0.73], poor wealth quintiles [AOR = 0.38, 95% CI: 0.21, 0.70], and medium wealth quintiles [AOR = 0.41, 95% CI: 0.22, 0.76], living in Menti Kebele [AOR = 3.07, 95% CI 1.85, 5.08], living in Abay tera kebele [AOR = 2.00, 95% CI 1.21, 3.29] were significantly associated with good knowledge. About all of the focused group discussion (FGD) participants agreed that malaria is a preventable disease and mentioned some of the preventive methods.

Conclusion

Overall there was relatively high knowledge of malaria prevention and control methods. LLINs and IRS were known malaria prevention methods in West Belessa. Wealth index and respondents living kebele are predictors for knowledge of malaria prevention.
Perceptions and processes influencing the transition of medical students from pre-clinical to clinical training
Authors: Malau-Aduli Bunmi S. , Roche Poornima , Adu Mary , Jones Karina , Alele Faith , Drovandi Aaron
Published: August 2020

Background

The transition from pre-clinical to clinical medical training is often characterised by several challenges which may have different impacts on students’ well-being and learning experiences. To ensure smooth transition, it’s important to understand how these students navigate through the challenging processes.

Methods

This study employed a mixed-methods design using a survey, focus groups and interviews among medical students who had entered their first clinical year of study (Year 4). Using a 5-point Likert scale, survey participants rated items which related to their transition experience in the areas of professional socialisation; workload; patient contact; knowledge and skills; and learning and education. The qualitative questions explored challenges in transition, coping strategies and recommendations to foster smooth transitioning. The survey data was analysed using descriptive and inferential statistics while thematic analysis was used to establish emerging themes from the qualitative data. The Westerman Transition Framework was utilised in the triangulation of study findings.

Results

A total of 141 students participated in the survey while 12 students participated in the focus group discussions and interviews. The quantitative part of the study showed that the students were anxious about the process and considered the workload to be heavy while also identifying gaps in their knowledge. Similarly, the qualitative findings revealed that workload and professional socialisation were identified as disruptive novel elements and the students also reported feelings of inadequacy and incompetence due to perceived knowledge gaps. These shortcomings and challenges were tackled by seeking support from peers and senior medical students as a way of coping with the anxiety and stress. As the students progressed, they admitted and accepted that the transition was a gradual process and an essential learning curve.

Conclusion

The process of transitioning from preclinical to clinical years is considered stressful and abrupt with the introduction of disruptive novel elements that create feelings of incompetence and unpreparedness in students. Educators need to consider developing social and developmental strategies that emphasise nurturing and empowering clinical learning environments and facilitate reflective and transformative life-long learning opportunities for students.
Development and validation of the Chinese version of the evidence-based practice profile questionnaire (EBP2Q)
Authors: Hu Ming-Yu , Wu Yan-Ni , McEvoy Maureen Patricia , Wang Yan-Fang , Cong Wei-Lian , Liu Li-Ping , Li Xiao-Xia , Zhou Chun-Lan
Published: August 2020

Background

Evidence-based practice (EBP) education or training are considered fundamental to building and strengthening an EBP culture, as well as to encouraging evidence-based academic and clinical practice in the nursing community. However, few valid and reliable instruments are available for the assessment of EBP teaching and learning in clinical nurses in China. Translation, reliability, and validity testing of the English Evidence-Based Practice Profile Questionnaire (EBP2Q), which has strong psychometric properties, may encourage evaluation and promote the implementation of EBP in Mainland China.

Methods

Based on established guidelines for the development of questionnaires, the English EBP2Q was translated and cross-culturally adapted. The Chinese version of the EBP2Q (EBP2Q-C) was validated using a sample of 543 nurses. Structural validity was evaluated through exploratory factor analysis and confirmatory factor analysis, and the questionnaire was tested for convergent and criterion validity. The internal consistency and test-retest reliability were also evaluated.

Results

The content validity index demonstrated good content validity (≥0.98). An eight-factor structure was obtained in the exploratory factor analysis, and verified by a three-order factor model from the confirmatory factor analysis (χ2/df = 2.001; RMSEA = 0.065; SRMR = 0.077; and CFI = 0.884). The Spearman’s rank correlation analysis of the EBP2Q-C with the Evidence-Based Practice Questionnaire showed moderate correlations forPractice(0.58) andConfidence(0.68) and a low correlation forSympathy(0.32). Criterion validity was demonstrated by significant differences in terms of nurses’ highest education, present position, EBP training, involvement in research programs, and level of understanding of English. Both the overall Cronbach’s α and the Cronbach’s α for the domains exceeded 0.70. The intraclass correlation coefficients for the domains ranged between 0.75 and 0.96, indicating satisfactory repeatability.

Conclusions

Except for the convergent validity of theSympathydomain, the EBP2Q-C provided evidence of validity and reliability. Therefore, it can be applied in EBP education or training assessment in Mainland China.
“You would not be in a hurry to go back home”: patients’ willingness to participate in HIV/AIDS clinical trials at a clinical and research facility in Kampala, Uganda
Authors: Sebatta Deborah Ekusai , Siu Godfrey , Nabeta Henry W. , Anguzu Godwin , Walimbwa Stephen , Lamorde Mohammed , Bukenya Badru , Kambugu Andrew
Published: August 2020

Background

Few studies have examined factors associated with willingness of people living with HIV (PLHIV) to participate in HIV treatment clinical trials in Sub-Saharan Africa. We assessed the factors associated with participation of PLHIV in HIV treatment clinical trials research at a large urban clinical and research facility in Uganda.

Methods

A mixed methods study was conducted at the Infectious Diseases Institute (IDI), adult HIV clinic between July 2016 and January 2017. Data were collected using structured questionnaires, focused group discussions with respondents categorised as either participated or never participated in clinical trials and key informant interviews with IDI staff. A generalized linear model with a logit link function was used for multivariate analyses while the qualitative data were summarized using a thematic approach.

Results

We enrolled a total of 202 and analysed 151 participants, 77 (51%) of whom were male with mean age of 41 years. The majority 127 (84%) expressed willingness to participate in treatment clinical trials if given an opportunity. At bivariate analysis, willingness to participate was significantly associated with respondents’ perception of a satisfactory compensation package (P-value < 0.002, 0.08–0.56), special status accorded (P-value < 0.001, 0.05–0.39) and belief that their health status would improve (P-value< 0.08, 0.03–0.58) while on the clinical trial. At multivariate analysis, a satisfactory compensation package (P-value< 0.030, 0.08–0.88) and special status accorded in clinical trials (P-value< 0.041, 0.01–0.91) remained significant. The qualitative data analysis confirmed these findings as participants valued the privilege of jumping the clinic waiting queues and spending less time in clinic, the wide range of free tests offered to trial participants, unrestricted access to senior physicians and regular communication from study team. Additionally, free meals offered during clinic visits meant that participants were not in a hurry to go back home. Barriers to participation included the perception that new drugs were being tested on them, fear of side effects like treatment failure and the uncertainty about privacy of their data.

Conclusion

We found overwhelming willingness to participate in HIV treatment clinical trials. This was largely extrinsically influenced by the perceived material and health-related benefits. Investigators should pay attention to participants’ concerns for benefits which may override the need to understand study procedures and risks.
Factors associated with low-acuity hospital admissions in a public safety-net setting: a cross-sectional study
Authors: Panahpour Eslami Noushyar , Nguyen Jefferson , Navarro Luis , Douglas Madison , Bann Maralyssa
Published: August 2020

Background

Given system-level focus on avoidance of unnecessary hospitalizations, better understanding admission decision-making is of utility. Our study sought to identify factors associated with hospital admission versus discharge from the Emergency Department (ED) for a population of patients who were assessed as having low medical acuity at time of decision.

Methods

Using an institutional database, we identified ED admission requests received from March 1, 2018 to Feb 28, 2019 that were assessed by a physician at the time of request as potentially inappropriate based on lack of medical acuity. Focused chart review was performed to extract data related to patient demographics, socioeconomic information, measures of illness, and system-level factors such as previous healthcare utilization and day/time of presentation. A binary logistic regression model was constructed to correlate patient and system factors with disposition outcome of admission to the hospital versus discharge from the ED. Physician-reported contributors to admission decision-making and chief complaint/reason for admission were summarized.

Results

A total of 349 (77.2%) of 452 calls resulted in admission to the hospital and 103 (22.8%) resulted in discharge from the ED. Predictors of admission included age over 65 (OR 3.5 [95%CI 1.1–11.6],p = 0.039), homelessness (OR 3.3 [95% CI 1.7–6.4],p=0.001), and night/weekend presentation (OR 2.0 [95%CI 1.1–3.5],p = 0.020). The most common contributing factors to the decision to admit reported by the responding physician included: lack of outpatient social support (35.8% of admissions), homelessness (33.0% of admissions), and substance use disorder (23.5% of admissions).

Conclusions

Physician medical decision-making regarding the need for hospitalization incorporates consideration of individual patient characteristics, social setting, and system-level barriers. Interventions aimed at reducing unnecessary hospitalizations, especially those involving patients with low medical acuity, should focus on underlying unmet needs and involve a broad set of perspectives.
A case study of an influenza vaccination program for health care workers in Vietnam
Authors: Ha Nga T. , Nguyen Thoa T. M. , Nguyen Tung X. , Tran Phu D. , Nguyen Hang M. , Ha Van T. , Lafond Kathryn E. , Seward Jane F. , McFarland Jeffrey W. , Chu Susan Y.
Published: August 2020

Background

In 2017, the Vietnam Ministry of Health conducted a demonstration project to introduce seasonal influenza vaccination to health care workers. A total of 11,000 doses of influenza vaccine, single-dose prefilled syringes, were provided free to HCWs at 29 selected hospitals, clinics, and research institutes in four provinces: Hanoi, Khanh Hoa, Dak Lak and Ho Chi Minh City.

Methods

Before the campaign, a workshop was organized to discuss an implementation plan including technical requirements, cold chain, uptake reporting, and surveillance for adverse events following immunization. All sites distributed communication materials and encouraged their staff to register for vaccination. Following immunization sessions, sites sent reports on uptake and adverse events following immunization. Left-over vaccine was transferred to other sites to maximize vaccine use.

Results

The average uptake was 57% for all health care workers, with 11 sites achieving 90% and above. These 11 sites were small with less than 500 staff, including 5 primary hospitals, 3 preventive medicine units, and 2 referral hospitals. Among the six biggest sites with over 1000 staff, four sites had the lowest uptake (14–47%). Most of the high-uptake sites were from the central to the south; only one site, a referral hospital, was from the north. After redistribution of left-over vaccine, only 130 vaccine doses (1.2%) were not used and destroyed. Based on factors that affected uptake, including registration levels, differing communication strategies, availability of vaccination, and commitment by health facility leaders, we recommended ways to increase health care worker coverage; recommendations to improve reporting adverse events following immunization were also made.

Conclusions

The project demonstrated that it was feasible to conduct influenza vaccination campaigns among health care workers in Vietnam. Improvements in promotion of registration, more intense pre-planning, especially at larger facilities, and wider, more consistent availability of communication materials will result in increased efficiency and coverage in this program’s future expansion.
Unraveling the molecular heterogeneity in type 2 diabetes: a potential subtype discovery followed by metabolic modeling
Authors: Khoshnejat Maryam , Kavousi Kaveh , Banaei-Moghaddam Ali Mohammad , Moosavi-Movahedi Ali Akbar
Published: August 2020

Background

Type 2 diabetes mellitus (T2DM) is a complex multifactorial disease with a high prevalence worldwide. Insulin resistance and impaired insulin secretion are the two major abnormalities in the pathogenesis of T2DM. Skeletal muscle is responsible for over 75% of the glucose uptake and plays a critical role in T2DM. Here, we sought to provide a better understanding of the abnormalities in this tissue.

Methods

The muscle gene expression patterns were explored in healthy and newly diagnosed T2DM individuals using supervised and unsupervised classification approaches. Moreover, the potential of subtyping T2DM patients was evaluated based on the gene expression patterns.

Results

A machine-learning technique was applied to identify a set of genes whose expression patterns could discriminate diabetic subjects from healthy ones. A gene set comprising of 26 genes was found that was able to distinguish healthy from diabetic individuals with 94% accuracy. In addition, three distinct clusters of diabetic patients with different dysregulated genes and metabolic pathways were identified.

Conclusions

This study indicates that T2DM is triggered by different cellular/molecular mechanisms, and it can be categorized into different subtypes. Subtyping of T2DM patients in combination with their real clinical profiles will provide a better understanding of the abnormalities in each group and more effective therapeutic approaches in the future.
Cross-cultural adaptation and psychometric properties of the Herth Hope Index in Kinyarwanda: adapting a positive psychosocial tool for healthcare recipients and providers in the Rwandan setting
Authors: Ishimwe Angele Bienvenue , Kaufman Julia , Uwamahoro Delphine , Wall Jonathan Taylor , Herth Kaye , Chang Emery , Ngirabega Jean de Dieu , Leonard Wendy
Published: August 2020

Background

The lack of culturally appropriate instruments to measure hope across cultural settings is a barrier to assessing and addressing the relationship between hope and health outcomes. The study aim was to adapt and evaluate the psychometric properties of the Herth Hope Index (HHI) in Kinyarwanda in a population of healthcare recipients and healthcare workers in Rwanda.

Methods

A transcultural translation and adaptation of the HHI was conducted using qualitative methods (n = 43) to achieve semantic, content, and technical equivalence. The adapted instrument was administered to a purposive sample (n = 206) of Rwandan healthcare patients and providers. Temporal reliability, internal reliability using Cronbach’s alpha, and construct validity using confirmatory factor analysis (CFA) were assessed.

Results

The Herth Hope Index-Kinyarwanda (HHI-K) was found to have strong internal consistency (α = 0.85) and test-retest reliability (r = 0.85). The original HHI three-factor structure fit the data well in CFA (normed chi-square = 1.53; root mean square error of approximation = 0.05; standardized root mean square residual = 0.05; comparative fit index = 0.96; Tucker-Lewis Index = 0.95).

Conclusion

This article presents the first rigorous cultural adaptation of the HHI in a low-income country. The HHI-K has acceptable psychometric properties, resulting in a new useful tool for research, program development, and evaluation in Rwandan healthcare settings. The HHI-K instrument can be used to assess the effectiveness of programs that aim to promote hope and health outcomes across health system- and individual-levels. The process also provides a feasible model for adaptation of a positive psychosocial tool for both patients and providers in low-resource settings.
Associations among working hours, sleep duration, self-rated health, and health-related quality of life in Korean men
Authors: Woo Darae , Lee Yeonjin , Park Sangshin
Published: August 2020

Background

This study aimed to examine the relationship between working hours and health-related quality of life (HRQOL) in men and to determine whether this relationship was mediated by sleep duration and self-rated health (SRH).

Materials and methods

Our study population included 2141 working men aged 20 to 49 years old from the Korea National Health and Nutrition Examination Survey 2016–2017. Working hours, SRH, and HRQOL were measured by a structured questionnaire survey. Sleep duration was calculated based on self-reported data. We investigated the association between working hours and HRQOL and performed a mediation analysis to evaluate the contributions of sleep duration and poor SRH to this relationship.

Results

This study identified a significant association between working hours and HRQOL. Long working hours directly and indirectly affected HRQOL through poor SRH. Men who overworked were more likely to report poor HRQOL due to worsened SRH. Poor SRH was responsible for 26.3% of this relationship. But sleep duration did not explain the relationship between working hours and HRQOL.

Conclusions

Working hours were directly associated with HRQOL in men. Furthermore, there was an indirect effect of working hours on HRQOL mediated by poorer SRH. An improved work-life balance is necessary to promote men’s health and quality of life.
Trends and correlates of meeting 24-hour movement guidelines: a 15-year study among 167,577 Thai adults
Authors: Liangruenrom Nucharapon , Dumuid Dorothea , Craike Melinda , Biddle Stuart J. H. , Pedisic Zeljko
Published: August 2020

Background

Time spent in physical activity (PA), sedentary behaviour (SB), and sleep always takes up the whole day. New public health guidelines combining recommendations for PA, SB, and sleep have been issued in several countries. Thailand was the first country to release the 24-h guidelines for adults. Currently, there is no evidence on the population prevalence of meeting 24-h movement guidelines in Thailand. This study, therefore, aimed to determine 15-year trends and associations of meeting 24-h movement guidelines among Thai adults.

Method

We analysed cross-sectional data from 2001, 2004, 2009, and 2015 Thai Time-Use Surveys, coded using the International Classification of Activities for Time-Use Statistics (ICATUS). All ICATUS-based activities were categorised into moderate-to-vigorous PA (MVPA), light PA (LPA), SB, and sleep based on a previously developed classification system. A total of 167,577 adult participants were included. The participants were classified according to the Thai 24-h movement guidelines into meeting or not meeting the following criteria: 1) ≥150 min/week of MVPA; 2) interrupting SB every 2 h; 3) sleeping 7–9 h per day; and 4) adhering to all three guidelines.

Results

In 2015, the prevalence of adults who met the MVPA, SB, sleep, and overall recommendations was 81.7, 44.6, 56.4, and 21.3%, respectively. A significant linear increase was found for the prevalence of meeting the SB recommendation, while the prevalence meeting the MVPA, sleep, and overall recommendations was lowest in 2001, peaked in 2004 or 2009, and declined in 2015. The lowest odds for meeting the 24-h guidelines were found among males, those living in urban areas, inhabitants of Bangkok and South Thailand, unemployed, and those with low education level.

Conclusions

Despite promising trends in the prevalence of meeting PA, SB, and sleep recommendations, a majority of Thai adults still do not meet the overall 24-h movement guidelines. Further actions are needed to promote more MVPA, less SB, and adequate sleep in Thai adults, particularly among males, those living in urban areas, inhabitants of Bangkok and South Thailand, unemployed, and those with low education level.
Complete protection for mice conferred by a DNA vaccine based on the Japanese encephalitis virus P3 strain used to prepare the inactivated vaccine in China
Authors: Zheng Xiaoyan , Yu Xiaozheng , Wang Yan , Turtle Lance , Cui Min , Wang Ran , Yin Chenghong
Published: August 2020

Background

The incidence of Japanese encephalitis (JE) has been dramatically reduced in China after sufficient vaccine coverage. The live-attenuated Japanese encephalitis virus (JEV) vaccine SA14–14-2 is believed to have strongly contribute to this decrease. Another vaccine that seems to have decreased in importance is an inactivated vaccine based on the JEV P3 strain, which is considered to be modifiable, such as being transformed into a DNA vaccine to improve its immunogenicity.

Methods

In this study, the protective efficacy induced by the Japanese encephalitis DNA vaccine candidate pV-JP3ME encoding the premembrane (prM) and envelope (E) proteins of the P3 strain was assessed in BALB/c mice. TheprM/Egenes of the JEV P3 strain were subcloned into the vector pVAX1 (pV) to construct pV-JP3ME.

Results

The plasmid DNA was immunized into BALB/c mice, and high titers of IgG antibody and neutralizing antibody (nAb) against JEV were detected. The key cytokines in splenocytes were secreted upon stimulation with JEV antigens. Finally, complete protective efficacy was generated after challenge with the JEV P3 strain in the mice.

Conclusions

The DNA vaccine pV-JP3ME based on the JEV P3 strain in this study can induce specific humoral immune and cytokine responses and provide complete protection against JEV in mice.
HLA-associated protection of lymphocytes during influenza virus infection
Authors: Ochoa Eliana E. , Huda Ruksana , Scheibel Steven F. , Nichols Joan E. , Mock David J. , El-Daher Nayef , Domurat Frank M. , Roberts Norbert J.
Published: August 2020

Background

Heterozygosity at HLA class I loci is generally considered beneficial for host defense. We report here an element of HLA class I homozygosity that may or may not help preserve its existence in populations but which could indicate a new avenue for antiviral research.

Methods

Lymphocytes from serologically HLA-homozygous or -heterozygous donors were examined for synthesis of influenza virus proteins and RNA after exposure to virus as peripheral blood mononuclear cells. The virus-exposed lymphocytes were also examined for internalization of the virus after exposure, and for susceptibility to virus-specific cytotoxic T lymphocytes in comparison with virus-exposed monocytes/macrophages and unseparated peripheral blood mononuclear cells. Results were compared using two-tailed Fisher’s exact test.

Results

Serologically-defined HLA-A2-homozygous lymphocytes, in contrast to heterozygous lymphocytes, did not synthesize detectable influenza virus RNA or protein after exposure to the virus. HLA-A2-homozygous lymphocytes, including both homozygous and heterozygous donors by genetic sequence subtyping, did internalize infectious virus but were not susceptible to lysis by autologous virus-specific cytotoxic T lymphocytes (“fratricide”). Similar intrinsic resistance to influenza virus infection was observed with HLA-A1- and HLA-A11-homozygous lymphocytes and with HLA-B-homozygous lymphocytes.

Conclusions

A significant proportion of individuals within a population that is characterized by common expression of HLA class I alleles may possess lymphocytes that are not susceptible to influenza virus infection and thus to mutual virus-specific lysis. Further study may identify new approaches to limit influenza virus infection.
Analysis of stakeholder networks for breastfeeding policies and programs in Ghana
Authors: Aryeetey Richmond , Harding Kassandra , Hromi-Fiedler Amber , Pérez-Escamilla Rafael
Published: August 2020

Background

Suboptimal breastfeeding practices are driven by multiple factors. Thus, a multi-sectoral approach is necessary to design and implement appropriate policies and programs that protect, promote, and support breastfeeding.

Methods

This study used Net-Map, an interactive social network interviewing and mapping technique, to: a) identify key institutional actors involved in breastfeeding policy/programs in Ghana, b) identify and describe links between actors (i.e., command, dissemination, funding, and technical assistance (TA)), and c) document actors influence to initiate or modify breastfeeding policy/programs. Ten experts were purposively selected from relevant institutions and were individually interviewed. Interview data was analysed using social networking mapping software, Gephi (version 0.9.2).

Results

Forty-six unique actors were identified across six actor categories (government, United Nations agencies, civil society, academia, media, others), with one-third being from government agencies. Dissemination and TA links accounted for two-thirds of the identified links between actors (85/261 links for dissemination; 85/261 for TA). Command links were mainly limited to government agencies, while other link types were observed across all actor groups. Ghana Health Service (GHS) had the greatest in-degree centrality for TA and funding links, primarily from United Nations Children’s Fund (UNICEF) and development partners. The World Health Organization, UNICEF, Ministry of Health, and GHS had the highest weighted average relative influence scores.

Conclusions

Although diverse actors are involved in breastfeeding policy and programming in Ghana, GHS plays a central role. United Nations and donor agencies are crucial supporters of GHS providing breastfeeding technical and financial assistance in Ghana.