bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gut microbiome profiling of a rural and urban South African cohort reveals biomarkers of a population in lifestyle transition
Authors: Oduaran O. H. , Tamburini F. B. , Sahibdeen V. , Brewster R. , Gómez-Olivé F. X. , Kahn K. , Norris S. A. , Tollman S. M. , Twine R. , Wade A. N. , Wagner R. G. , Lombard Z. , Bhatt A. S. , Hazelhurst S. 
Published: October 2020

Abstract

Background
Comparisons of traditional hunter-gatherers and pre-agricultural communities in Africa with urban and suburban Western North American and European cohorts have clearly shown that diet, lifestyle and environment are associated with gut microbiome composition. Yet, little is known about the gut microbiome composition of most communities in the very diverse African continent. South Africa comprises a richly diverse ethnolinguistic population that is experiencing an ongoing epidemiological transition and concurrent spike in the prevalence of obesity, largely attributed to a shift towards more Westernized diets and increasingly inactive lifestyle practices. To characterize the microbiome of African adults living in more mainstream lifestyle settings and investigate associations between the microbiome and obesity, we conducted a pilot study, designed collaboratively with community leaders, in two South African cohorts representative of urban and transitioning rural populations. As the rate of overweight and obesity is particularly high in women, we collected single time-point stool samples from 170 HIV-negative women (51 at Soweto; 119 at Bushbuckridge), performed 16S rRNA gene sequencing on these samples and compared the data to concurrently collected anthropometric data.

Results
We found the overall gut microbiome of our cohorts to be reflective of their ongoing epidemiological transition. Specifically, we find that geographical location was more important for sample clustering than lean/obese status and observed a relatively higher abundance of the Melainabacteria, Vampirovibrio, a predatory bacterium, in Bushbuckridge. Also, Prevotella, despite its generally high prevalence in the cohorts, showed an association with obesity. In comparisons with benchmarked datasets representative of non-Western populations, relatively higher abundance values were observed in our dataset for Barnesiella (log2fold change (FC) = 4.5), Alistipes (log2FC = 3.9), Bacteroides (log2FC = 4.2), Parabacteroides (log2FC = 3.1) and Treponema (log2FC = 1.6), with the exception of Prevotella (log2FC = − 4.7).

Conclusions
Altogether, this work identifies putative microbial features associated with host health in a historically understudied community undergoing an epidemiological transition. Furthermore, we note the crucial role of community engagement to the success of a study in an African setting, the importance of more population-specific studies to inform targeted interventions as well as present a basic foundation for future research.
A medical epopee: recurrent fungal endocarditis, heart transplantation and chylopericardium
Authors: de Santis Antonio , Gilberto Guilherme Moratti , Mangini Sandrigo , Megale Adalberto Batalha , Gaiotto Fabio Antonio , Terra Ricardo Mingarini , Garcia Rodrigo Gobbo 
Published: October 2020

Abstract

Background
Candida prosthetic endocarditis is associated with high mortality rates and valve replacement surgery, together with antifungal treatment, play a major role in eradicating the fungal infection.
Valve reoperations in these scenarios may be relatively common due to the high infection relapse rates and, in some cases, heart transplantation may be an imposing therapy for infection resolution and for the heart failure related to the myocardial reoperation injury. Among the many postoperative complications related to heart transplantation, chylopericardium is a rare but challenging example.

Case presentation
We report the case of a 55-year-old man who was admitted to our hospital with a 1-month history of progressive dyspnea and fatigue. His past medical history included four open-heart surgeries for aortic and mitral valve replacement due to recurrent Candida parapsilosis infective endocarditis. Transthoracic echocardiogram showed a markedly reduced left ventricular systolic function and normofunctioning bioprosthetic valves. An inotropic dependency condition led to heart transplantation surgery. In the early postoperative period, a persistent chylous fluid started to drain from the pericardial tube, compatible with the diagnosis of chylopericardium. The lack of clinical response to total parenteral nutrition and intravenous infusion of octreotide imposed the need of interventional radiology with diagnostic lymphography through cisterna chyli puncture and thoracic duct catheterization, confirming the presence of a lymphatic fistula. A successful treatment outcome was achieved with percutaneous thoracic duct embolization using coils and n-butyl-cyanoacrilate glue, possibiliting hospital discharge.

Conclusions
Fungal endocarditis requires combined treatment (surgical and antimicrobial) for eradication. Valve replacement, while necessary, may lead to severe ventricular deterioration and heart transplantation may be the only viable therapeutic solution. Among the several postoperative complications of heart transplantation, chylopericardium is an uncommon and defiant example. Advances in interventional radiology like the percutaneous embolization allow a less invasive and highly efficient approach for this complication.
Transcatheter arterial embolisation is efficient and safe for paediatric blunt torso trauma: a case-control study
Authors: Gakumazawa Masayasu , Toida Chiaki , Muguruma Takashi , Yogo Naoki , Shinohara Mafumi , Takeuchi Ichiro 
Published: October 2020

Abstract

Background
It remains unclear whether transcatheter arterial embolisation (TAE) is as safe and effective for paediatric patients with blunt torso trauma as it is for adults in Japan, owing to few trauma cases and sporadic case reports. The study aimed to compare the efficacy and safety of TAE performed in paediatric (age ≤ 15 years) and adult patients with blunt torso trauma.

Methods
This was a single-centre, retrospective chart review study that included blunt torso trauma patients who underwent TAE in the trauma centre from 2012 to 2017. The comparative study was carried out between a ‘paediatric patient group’ and an ‘adult patient group’. The outcome measures for TAE were the success of haemorrhage control and complications and standardised mortality ratio (SMR).

Results
A total of 504 patients with blunt torso trauma were transported to the trauma centre, out of which 23% (N = 114) with blunt torso trauma underwent TAE, including 15 paediatric and 99 adult patients. There was no significant difference between the use of TAE in paediatric and adult patients with blunt torso trauma (29% vs 22%, P = .221). The paediatric patients’ median age was 11 years (interquartile ranges 7–14). The predicted mortality rate and SMR for paediatric patients were lower than those for adult patients (18.3% vs 25.9%, P = .026, and 0.37 vs 0.54). The rate of effective haemorrhage control without repeated TAE or additional surgical intervention was 93% in paediatric patients, which was similar to that in adult patients (88%). There were no complications in paediatric patients at our centre. There were no significant differences in the proportion of paediatric patients who underwent surgery before TAE or urgent blood transfusion (33% vs 26%, P = .566, or 67% vs 85%, P = .084).

Conclusions
It is possible to provide an equal level of care related to TAE for paediatric and adult patients as it relates to TAE for blunt torso trauma with haemorrhage in the trauma centre. Alternative haemorrhage control procedures should be established as soon as possible whenever the patients reach a haemodynamically unstable state.
Substantial gap in primary care: older adults with HIV presenting late to care
Authors: Yasin Faiza , Rizk Christina , Taylor Bennie , Barakat Lydia A. 
Published: October 2020

Abstract

Background
Late diagnosis of human immunodeficiency virus (HIV) is associated with increased morbidity and mortality, and represents a serious public health concern.

Methods
A retrospective medical record review was conducted on 188 patients with newly diagnosed HIV at a large academic center’s HIV clinic from 1/2010 to 12/2019. Patient demographic data, HIV staging, and response to combination antiretroviral therapy (cART) as measured by HIV viral suppression at 12 weeks (HIV RNA < 50 copies) were collected. Bivariate analyses were applied to compare patients ≥50 years old to those < 50 years old.

Results
Over two-thirds of the older patients with a new diagnosis of HIV presented with a CD4 count < 200, or an AIDS-defining illness. Though not statistically significant, this same group also had a delay to viral suppression with only 59% achieving viral suppression after 12-weeks of cART initiation.

Conclusions
This study suggests that older patients are presenting to care with advanced stages of HIV, and may also have a delay in achieving viral suppression after cART initiation. Future studies should aim to target HIV testing and treatment strategies for this at-risk older adult group.
The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation
Authors: Ni Xiaolin , Jin Chenxi , Jiang Yan , Wang Ou , Li Mei , Xing Xiaoping , Xia Weibo 
Published: October 2020

Abstract

Background
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as the pathogenic cause of kEDS (kEDS-PLOD1). Up to now, kEDS-PLOD1 has not been reported among Chinese population.

Case presentation
A 17-year-old Chinese male patient presenting with hypotonia, joint hypermobility and scoliosis was referred to our hospital. After birth, he was found to have severe hypotonia leading to delayed motor development. Subsequently, joint hypermobility, kyphoscoliosis and amblyopia were found. Inguinal hernia was found at age 5 years and closed by surgery. At the same time, he presented with hyperextensible and bruisable velvety skin with widened atrophic scarring after minor trauma. Dislocation of elbow joint was noted at age of 6 years. Orthopedic surgery for correction of kyphoscoliosis was performed at age 10 years. His family history was unremarkable. Physical examination revealed elevated blood pressure. Slight facial dysmorphologies including high palate, epicanthal folds, and down-slanting palpebral fissures were found. He also had blue sclerae with normal hearing. X-rays revealed severe degree of scoliosis and osteopenia. The Echocardiography findings were normal. Laboratory examination revealed a slightly elevated bone turnover. Based on the clinical manifestations presented by our patient, kEDS was suspected. Genetic analysis revealed a novel homozygous missense mutation of PLOD1 (c.1697 G > A, p.C566Y), confirming the diagnosis of kEDS-PLOD1. The patient was treated with alfacalcidol and nifedipine. Improved physical strength and normal blood pressure were reported after 12-month follow-up.

Conclusions
This is the first case of kEDS-PLOD1 of Chinese origin. We identified one novel mutation of PLOD1, extending the mutation spectrum of PLOD1. Diagnosis of kEDS-PLOD1 should be considered in patients with congenital hypotonia, progressive kyphoscoliosis, joint hypermobility, and skin hyperextensibility and confirmed by mutation analysis of PLOD1.
Association between health-related hope and adherence to prescribed treatment in CKD patients: multicenter cross-sectional study
Authors: Kurita Noriaki , Wakita Takafumi , Ishibashi Yoshitaka , Fujimoto Shino , Yazawa Masahiko , Suzuki Tomo , Koitabashi Kenichiro , Yanagi Mai , Kawarazaki Hiroo , Green Joseph , Fukuhara Shunichi , Shibagaki Yugo 
Published: October 2020

Abstract

Background
In chronic kidney disease (CKD), patients’ adherence to prescriptions for diet and for medications might depend on the degree to which they have hope that they will enjoy life, and that hope could vary with the stage of CKD. The aims of this study were to quantify both the association of CKD stage with health-related hope (HR-Hope), and the association of that hope with psychological and physiological manifestations of adherence.

Methods
This was a cross-sectional study involving 461 adult CKD patients, some of whom were receiving dialysis. The main exposure was HR-Hope, measured using a recently-developed 18-item scale. The outcomes were perceived burden of fluid restriction and of diet restriction, measured using the KDQOL, and physiological manifestations of adherence (systolic and diastolic blood pressure [BP], and serum phosphorus and potassium levels).
General linear models and generalized ordered logit models were fit.

Results
Participants at non-dialysis stage 4 and those at stage 5 had lower HR-Hope scores than did those at stage 2 or 3 (combined). Those at non-dialysis stage 5 had the lowest scores. HR-Hope scores of participants at stage 5D were similar to those of participants at stage 4, but they were lower than the scores of participants at stage 2 or 3 (combined). Higher HR-Hope scores were associated with lower perceived burdens of fluid restriction and of diet restriction (adjusted ORs per ten-point difference were 0.82 and 0.84, respectively). Higher HR-Hope scores were associated with lower systolic BP (adjusted mean difference in systolic BP per ten-point difference in HR-Hope scores was − 1.87 mmHg). In contrast, HR-Hope scores were not associated with diastolic BP, serum phosphorus levels, or serum potassium levels.

Conclusions
Among CKD patients, HR-Hope is associated with disease stage, with psychological burden, and with some physiological manifestations of adherence.
Spontaneous rupture of enormous renal angiomyolipoma in a pregnant tuberous sclerosis patient: a rare case
Authors: Liu Zechuan , Zou Yinghua , Lv Tianshi , Guan Haitao , Fan Zeyang 
Published: October 2020

Abstract

Background
Renal angiomyolipoma (RAML) is a rare benign kidney tumour comprised of adipose tissue, smooth muscle, and blood vessels. It can cause fatal complications if it ruptures. Although there have been reports of RAMLs rupturing, it is unusual to see RAMLs rupture during pregnancy, especially in pregnant women with tuberous sclerosis (TSC). Moreover, we reported a rare complication after selective arterial embolization (SAE) for the first time, which called aseptic liquefaction necrosis.

Case presentation
The case is a 16-week-pregnant woman with TSC who presented with severe flank pain, which was secondary to the rupture of a large, previously unknown RAML. This was confirmed by emergency computed tomography and successfully treated with selective arterial embolization after the patient received counselling and provided prior informed written consent for medical termination of pregnancy (MTP). The patient underwent abortion 3 weeks after the SAE. The patient required drainage 2 months after the SAE because of aseptic liquefaction necrosis. During follow-up, the patient’s lesion remained stable.

Conclusion
RAML rupture is a rare but rather serious complication in pregnant tuberous sclerosis patients. Selective arterial embolization (SAE) should be performed immediately, and the status of the pregnancy needs to be assessed by a multidisciplinary team. We also report for the first time the rare complication of aseptic liquefaction necrosis after SAE of RAML, for which percutaneous drainage is effective.
Development and validation of the prenatal activity restriction stress questionnaire: a Rasch rating scale analysis
Authors: Hung Hsiao-Ying , Hung Su-Pin , Chang Ying-Ju 
Published: October 2020

Abstract

Background
Antepartum activity restriction (AAR) is a common recommendation given to women at risk for preterm delivery. However, such treatment has been shown to cause heavy emotional burdens on the women receiving it since it requires them to face many challenges derived from the intervention. Nevertheless, current existing scales lack effective items that can reflect the distress of these women. The aim of this study was to develop a reliable instrument to assess the distress of women experiencing AAR.

Method
The Prenatal Activity Restriction Stress Questionnaire (PARSQ) was developed according to comprehensive literature review, women’s interviews, and existing pregnancy-special stress scales from August 2016 to July 2017 in southern Taiwan. Six experts evaluated its content validity; the Rasch rating scale model (RSM) was used to examine its item-fit, dimensionality, and reliability with 200 women with AAR experience. Furthermore, the concurrent validity was assessed through computing the correlation of AAR women’s scores on the PARSQ and Perceived Stress Scale (PSS), and discriminant validity of the PARSQ was assessed to compare the scores’ differences between the AAR women and the healthy pregnant women.

Results
The PARSQ was constructed with 23 items in the 4-dimensional scale: Role function changes (8 items), Fetal safety and health (5 items), Physical and psychological care issues (5 items), and Socioeconomic and medical issues (5 items). It was confirmed to have satisfactory content vitality (CVI = 0.78 to 1.0), reasonable item-fit (0.77 to 1.51), and good reliability in RSM model, as well as adequate concurrent validity (p = 0.005) and discriminant validity (p < 0.001).

Conclusions
Understanding the distress of women undergoing AAR is necessary for developing appropriate prenatal care to assist women in coping with their situation to alleviate their emotional burdens. The developed PARSQ with satisfied psychometric properties can be an informative instrument for clinicians/researchers to assess the specific stress of pregnant women with AAR.
Epigenome-wide DNA methylation and risk of breast cancer: a systematic review
Authors: Ennour-Idrissi Kaoutar , Dragic Dzevka , Durocher Francine , Diorio Caroline 
Published: October 2020

Abstract

Background
DNA methylation is a potential biomarker for early detection of breast cancer. However, robust evidence of a prospective relationship between DNA methylation patterns and breast cancer risk is still lacking. The objective of this study is to provide a systematic analysis of the findings of epigenome-wide DNA methylation studies on breast cancer risk, in light of their methodological strengths and weaknesses.

Methods
We searched major databases (MEDLINE, EMBASE, Web of Science, CENTRAL) from inception up to 30th June 2019, for observational or intervention studies investigating the association between epigenome-wide DNA methylation (using the HM450k or EPIC BeadChip), measured in any type of human sample, and breast cancer risk. A pre-established protocol was drawn up following the Cochrane Reviews rigorous methodology. Study selection, data abstraction, and risk of bias assessment were performed by at least two investigators. A qualitative synthesis and systematic comparison of the strengths and weaknesses of studies was performed.

Results
Overall, 20 studies using the HM450k BeadChip were included, 17 of which had measured blood-derived DNA methylation. There was a consistent trend toward an association of global blood-derived DNA hypomethylation and higher epigenetic age with higher risk of breast cancer. The strength of associations was modest for global hypomethylation and relatively weak for most of epigenetic age algorithms. Differences in length of follow-up periods may have influenced the ability to detect associations, as studies reporting follow-up periods shorter than 10 years were more likely to observe an association with global DNA methylation. Probe-wise differential methylation analyses identified between one and 806 differentially methylated CpGs positions in 10 studies. None of the identified differentially methylated sites overlapped between studies. Three studies used breast tissue DNA and suffered major methodological issues that precludes any conclusion. Overall risk of bias was critical mainly because of incomplete control of confounding. Important issues relative to data preprocessing could have limited the consistency of results.

Conclusions
Global DNA methylation may be a short-term predictor of breast cancer risk. Further studies with rigorous methodology are needed to determine spatial distribution of DNA hypomethylation and identify differentially methylated sites associated with risk of breast cancer.

Prospero registration number
CRD42020147244
Barium enema findings in total colonic aganglionosis: a single-center, retrospective study
Authors: Yan Jiayu , Sun Jihang , Wu Rongchang , Tan Sarah Siyin , Chen Yongwei , Peng Yun , Chen Yajun 
Published: October 2020

AbstractBackgroundPreoperative diagnosis of total colonic aganglionosis is important for the rational choice of treatment. The present study aimed to evaluate the diagnostic performance of radiographic signs on preoperative barium enema in patients with total colonic aganglionosis.MethodsForty-four patients [41 (3-659) days] with total colonic aganglionosis, including 17 neonatal patients, who received preoperative barium enema at Beijing Children’s Hospital, from January 2007 to December 2019 were included. All radiographs were retrospectively restudied by 2 pediatric radiologists to ascertain radiographic signs including rectosigmoid index, transition zone, irregular contraction, gas-filled small bowel, microcolon, question-mark-shaped colon and ileocecal valve reflux. Kappa test was performed to assess the accuracy and consistency of the radiographic signs.ResultsThe 2 radiologists showed slight agreement for gas-filled small bowel, microcolon and rectosigmoid index, fair agreement for transition zone and irregular contraction, and moderate agreement for question-mark-shaped colon and ileocecal valve reflux (Kappa values, 0.043, 0.075, 0.103, 0.244, 0.397, 0.458 and 0.545, respectively). In neonatal patients, the 2 radiologists showed moderate agreement for ileocecal valve reflux and substantial agreement for question-mark-shaped colon (Kappa values, 0.469 and 0.667, respectively). In non-neonatal patients, the 2 radiologists showed substantial agreement for ileocecal valve reflux (Kappa value, 0.628). In 36 patients with total colonic aganglionosis extending to the ileum, the accuracies of question-mark-shaped colon, ileocecal valve reflux and the combination of both were 47%, 53%, and 75%, respectively, in one radiologist and 53%, 50% and 72%, respectively, in the other radiologist.ConclusionsIleocecal valve reflux is a relatively reliable radiographic sign for diagnosing total colonic aganglionosis and could improve the diagnostic accuracy upon combination with question-mark-shaped colon.