bluuebunny/crossref_metadata_2025_split huggingface dataset:
Alpha thalassemia genotypes in Kuwait
Authors: Adekile Adekunle , Sukumaran Jalaja , Thomas Diana , D’Souza Thomas , Haider Mohammad 
Published: August 2020

Abstract
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

Abstract
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

Abstract
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

Abstract
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

AbstractBackgroundSeveral 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.MethodsThe 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).ResultsWe 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.ConclusionA 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

Abstract
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

AbstractBackgroundChildren 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.MethodsA 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.ResultsOnly 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.ConclusionParents 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

Abstract
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

AbstractBackgroundIn 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.MethodsCommunity-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.ResultA 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.ConclusionOverall 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

AbstractBackgroundThe 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.MethodsThis 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.ResultsA 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.ConclusionThe 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.