bluuebunny/crossref_metadata_2025_split huggingface dataset:
Widely metastatic glioblastoma with BRCA1 and ARID1A mutations: a case report
Authors: Umphlett Melissa , Shea Stephanie , Tome-Garcia Jessica , Zhang Yizhou , Hormigo Adilia , Fowkes Mary , Tsankova Nadejda M. , Yong Raymund L. 
Published: January 2020

Abstract
Background
Glioblastoma (GBM) is a highly malignant brain neoplasm with poor survival. Despite its aggressive nature, metastatic spread of GBM is identified only rarely. While the molecular alterations associated with GBM and its subtypes are well-described, there remains a gap in understanding which alterations may predispose towards metastasis. In this report, we present a case of GBM with multi-organ metastases and discuss its genomic alterations.

Case presentation
A 74-year-old woman was diagnosed with left occipital glioblastoma (IDH-wildtype, MGMT-unmethylated), for which she underwent resection, standard chemoradiation, and then stereotactic radiosurgery (SRS) for local recurrence. One month after SRS, work-up for a pathologic hip fracture revealed a left breast mass, lytic lesions involving pelvic bones, and multiple pulmonary and hepatic lesions. Biopsies of the breast and bone lesions both demonstrated metastatic IDH-wildtype GBM. For worsening neurologic symptoms, the patient underwent debulking of a large right temporal lobe recurrence and expired shortly thereafter. Autopsy confirmed metastatic GBM in multiple systemic sites, including bilateral lungs, heart, liver, thyroid, left breast, small bowel, omentum, peritoneal surfaces, visceral surfaces, left pelvic bone, and hilar lymph nodes. Targeted sequencing was performed on tissue samples obtained pre- and postmortem, as well as on cell cultures and an orthotopic mouse xenograft derived from premortem surgical specimens. A BRCA1 mutation (p.I571T) was the only variant found in common among the primary, recurrence, and metastatic specimens, suggesting its likely status as an early driver mutation. Multiple subclonal ARID1A mutations, which promote genomic instability through impairment of DNA mismatch repair, were identified only in the recurrence. Mutational spectrum analysis demonstrated a high percentage of C:G to T:A transitions in the post-treatment samples but not in the primary tumor.

Conclusion
This case report examines a rare case of widely metastatic IDH-wildtype GBM with a clonal somatic mutation in BRCA1. Post-treatment recurrent tumor in the brain and in multiple systemic organs exhibited evidence of acquired DNA mismatch repair deficiency, which may be explained by functional loss of ARID1A. We identify a potential role for immune checkpoint and PARP inhibitors in the treatment of metastatic GBM.
Factors associated with myopia in Korean children: Korea National Health and nutrition examination survey 2016–2017 (KNHANES VII)
Authors: Kim Hyuna , Seo Jin Seok , Yoo Woong-Sun , Kim Gyu-Nam , Kim Rock Bum , Chae Jae Eun , Chung Inyoung , Seo Seong-Wook , Kim Seong Jae 
Published: January 2020

Abstract
Background
To evaluate the prevalence and risk factors associated with myopia and high myopia in children in South Korea.

Methods
A total of 983 children 5–18 years of age who participated in the Korean National Health and Nutrition Examination Survey 2016–2017 (KNHANES VII), a nationwide population-based cross-sectional study, were evaluated. Myopia and high myopia were defined as a spherical equivalent (SE) ≤ − 0.5 diopters (D) and SE ≤ --6.0 D. The association between refractive errors and potential risk factors for myopia was analyzed.

Results
The prevalence of myopia and high myopia was 65.4 and 6.9%, respectively. Older age and parental myopia were significantly associated with both myopia and high myopia, while higher body mass index (BMI) was associated with high myopia only. Although the proportion of subjects who spent more time on near work activities (≥4 h/day) was sequentially increased with increased refractive error, this tendency was not statistically significant by multivariable logistic regression.

Conclusions
Korean children had a high prevalence of myopia and high myopia. In this age group, the risk of myopia increased with aging and parental myopia. Higher BMI may be associated with high myopia.
Association between pre-and postnatal growth and longitudinal trends in serum uric acid levels and blood pressure in children aged 3 to 7 years
Authors: Park Bomi , Park Bohyun , Lee Hye Ah , Lee Seonhwa , Han Hyejin , Park Eunae , Cho Su Jin , Kim Hae Soon , Kim Young Ju , Ha Eun-Hee , Park Hyesook 
Published: January 2020

Abstract
Background
Uric acid has been identified as an important factor in the development of hypertension. If low birth weight (LBW) combined with catch-up growth (CUG) is associated with continuously elevated serum uric acid levels (SUA) level trajectories, LBW children who experience CUG may have an increased risk of hypertension later in life. Therefore, this cohort study analyzed longitudinal trends in SUA levels and changes in blood pressure in relation to pre- and postnatal growth over an extended follow-up period.

Methods
This prospective cohort study of 364 children from the Ewha Birth and Growth Cohort assessed the effects of pre- and postnatal growth status on SUA at 3, 5, and 7 years of age using a linear mixed model and the change in blood pressure over the 7-year follow-up period using a generalized linear model (analysis of covariance). CUG was defined as a change in weight (between birth and age 3) with a z-score > 0.67 for LBW subjects. The multivariate model considered sex, gestational age, and uric acid, height, and weight at 3 years of age.

Results
Children with LBW and CUG had higher SUA for the first 7 years of life compared to the normal birth weight group. This trend was particularly evident when comparing LBW children at term to children with normal birth weight. Within the group with LBW at term, children with greater CUG had higher SUA than children with normal birth weight, and this difference increased with age. Changes in the systolic blood pressure between 3 and 7 years of age were higher by 7.9 mmHg in children who experienced LBW and CUG compared with those who had a normal birth weight after adjusting for sex, gestational age, and height, weight, and uric acid at 3 years of age (p-value = 0.08).

Conclusions
The uric acid levels and changes in systolic blood pressure were consistently higher among LBW children who experienced CUG compared with NBW children for the first 7 years of life. LBW children who experienced greater weight gain from birth to age 3 had even higher uric acid levels compared with NBW children.
Tonsillar hypertrophy and prolapse in a child – is epiglottitis a predisposing factor for sudden unexpected death?
Authors: Nieuwoudt I. , Goussard P. , Verster J. , Dempers J. 
Published: January 2020

Abstract
Background
Tonsillitis, with associated tonsillar hypertrophy, is a common disease of childhood, yet it is rarely associated with sudden death due to airway obstruction. Lethal complications involving the inflamed tonsils include haemorrhage, retropharyngeal abscess and disseminated sepsis.

Case presentation
We report on a case of sudden and unexpected death in an 8-year-old female who was diagnosed with and treated for tonsillitis. The child was diagnosed with acute tonsillitis 2 days prior to her collapse and was placed on a course of oral antibiotics. There were no signs of upper or lower airway obstruction. She was found to be unresponsive by her caregiver and gasping for air in her bed in the early hours of the second morning after the start of treatment. Autopsy showed massive and symmetrically enlarged palatine tonsils. The tonsils filled the pharynx almost completely. The epiglottis and laryngeal mucosa at the base of the epiglottis in the vicinity of the aryepiglottic membrane and the superior aspect of the larynx displayed red-purple discoloration, with mucosal swelling and edema. Histological examination of the palatine tonsils revealed prominent lymphoid hyperplasia, but no evidence of acute inflammation.

Conclusion
Palatine tonsillar hypertrophy in infants is a common feature of both viral and bacterial tonsillitis and has been postulated as a possible risk factor for Sudden and Unexplained Death in Infancy (SUDI), based on the theory of mechanical impediment of breathing by narrowing of the upper airway. The rounded shape of the tonsils may facilitate some airflow past the enlarged structures and hence protect against asphyxial death when the enlarged tonsils fill the laryngo-pharynx. Epiglottal and proximal laryngeal edema may play a more significant role in asphyxial unexpected deaths in cases of tonsillitis with tonsillar hypertrophy than previously suspected. This focusses the importance of careful examination of the epiglottis and proximal laryngeal mucosa, as part of a thorough examination of the laryngo-pharynx in cases of sudden death associated with tonsillar hypertrophy.
Trends in burden and risk factors associated with childhood stunting in Rwanda from 2000 to 2015: policy and program implications
Authors: Binagwaho Agnes , Rukundo Alphonse , Powers Samuel , Donahoe Kateri B. , Agbonyitor Mawuena , Ngabo Fidel , Karema Corine , Scott Kirstin Woody , Smith Fawzi Mary C. 
Published: January 2020

AbstractBackgroundRwanda has made substantial economic progress over the past two decades. However, evidence suggests that malnutrition among children remains high in spite of this progress. This study aims to examine trends and potential risk factors associated with childhood stunting from 2000 to 2015 in Rwanda.MethodsData for this study come from the 2000 to 2015 Rwanda’s Demographic and Health Surveys (DHS), a cross-sectional, population-based survey that is conducted every 5 years. Following prior work, we define stunting based on age and weight as reported in the DHS. We assess the overall prevalence of stunting among children under the age of 5 in Rwanda and then conduct bivariate analyses across a range of policy-relevant demographic, socioeconomic, and health variables. We then incorporate key variables in a multivariable analysis to identify those factors that are independently associated with stunting.ResultsThe prevalence of stunting among children under the age of 5 in Rwanda declined from 2000 (47.4%) to 2015 (38.3%), though rates were relatively stagnant between 2000 and 2010. Factors associated with higher rates of stunting included living in the lowest wealth quintile, having a mother with limited education, having a mother that smoked, being of the male sex, and being of low-birth weight.ConclusionsThough overall stunting rates have improved nationally, these gains have been uneven. Furthering ongoing national policies to address these disparities while also working to reduce the overall risk of malnutrition will be necessary for Rwanda to reach its overall economic and health equity goals.
Evaluation of smartphone APP-based case-management services among antiretroviral treatment-naïve HIV-positive men who have sex with men: a randomized controlled trial protocol
Authors: Fan Xiaoyan , She Rui , Liu Cong , Zhong Haidan , Lau Joseph T. F. , Hao Chun , Li Jinghua , Hao Yuantao , Li Linghua , Gu Jing 
Published: January 2020

Abstract
Background
Men who have sex with men (MSM) are disproportionally affected by HIV in China. ‘Treatment as Prevention’ is a promising strategy for HIV prevention but requires adequate adherence. Mobile health (mHealth) may be an acceptable and feasible approach for service delivery, but there is little evidence supporting mHealth intervention for improving antiretroviral treatment adherence among HIV-infected MSM in low- and middle-income countries, including China. This study will aim to develop a smartphone application-based case-management service and compare its efficacy to standard care with regards to adherence, CD4, HIV viral load and psychosocial outcomes among MSM patients in Guangzhou, China.

Methods
A non-blinded 1:1 parallel-group randomised controlled trial will be conducted in Guangzhou Eighth People’s Hospital, with 300 MSM enrolled in each arm. Eligible MSM who are newly initiating ART will be randomly assigned to an intervention group (standard-of-care case management plus mHealth intervention) or a control group (standard-of-care case management). The development of the mHealth intervention will be based on the information–motivation–behavioural skills theory of ART adherence, and comprise four components: educational articles, one-to-one online communication with case managers, support-service information and hospital-visit reminders. Outcome measures will be collected at baseline and at months 1, 3, 6, and 12. The primary outcomes will be ART adherence and CD4 count at month 6. Secondary outcomes include HIV RNA, sexual behaviours, mental health status, illness perceptions, and quality of life. χ2 test and t-test will be used for between-group comparisons. Intervention effects will be evaluated using General estimating equation performed by SAS 9.0, on the principle of intention-to-treat. Structural equation modelling will be used to test potential mechanisms of intervention effect.

Discussion
This study is the first to explore the efficacy of mHealth intervention in the case management services targeted at HIV-infected MSM in low-and middle-income countries. Once proven effective, the innovative mHealth service could be integrated into the routine case management of PLWH. as well as be tailored to the patient management service for other chronic conditions.

Trial registration
ClinicalTrial.gov: NCT03860116; Registered on 1 March 2019.
Effects of social health insurance on access and utilization of obstetric health services: results from HIV+ pregnant women in Kenya
Authors: Were Lawrence P. O. , Were Edwin , Wamai Richard , Hogan Joseph , Galarraga Omar 
Published: January 2020

Abstract
Background
Reducing maternal morbidity and mortality remains a top global health agenda especially in high HIV/AIDS endemic locations where there is increased likelihood of mother to child transmission (MTCT) of HIV. Social health insurance (SHI) has emerged as a viable option to improve population access to health services, while improving outcomes for disenfranchised populations, particularly HIV+ women. However, the effect of SHI on healthcare access for HIV+ persons in limited resource settings is yet to undergo rigorous empirical evaluation. This study analyzes the effect of health insurance on obstetric healthcare access including institutional delivery and skilled birth attendants for HIV+ pregnant women in Kenya.

Methods
We analyzed cross-sectional data from HIV+ pregnant women (ages 15–49 years) who had a delivery (full term, preterm, miscarriage) between 2008 and 2013 with their insurance enrollment status available in the electronic medical records database of a HIV healthcare system in Kenya. We estimated linear and logistic regression models and implemented matching and inverse probability weighting (IPW) to improve balance on observable individual characteristics. Additionally, we estimated heterogeneous effects stratified by HIV disease severity (CD4 < 350 as “Severe HIV disease”, and CD4 > 350 otherwise).

Findings
Health Insurance enrollment is associated with improved obstetric health services utilization among HIV+ pregnant women in Kenya. Specifically, HIV+ pregnant women covered by NHIF have greater access to institutional delivery (12.5-percentage points difference) and skilled birth attendants (19-percentage points difference) compared to uninsured. Notably, the effect of NHIF on obstetric health service use is much greater for those who are sicker (CD4 < 350) – 20 percentage points difference.

Conclusion
This study confirms conceptual and practical considerations around health insurance and healthcare access for HIV+ persons. Further, it helps to inform relevant policy development for health insurance and HIV financing and delivery in Kenya and in similar countries in sub-Saharan Africa in the universal health coverage (UHC) era.
School suspension predicts trichomoniasis five years later in a matched sample
Authors: Rosenbaum Janet E. 
Published: January 2020

AbstractBackgroundYoung adults who were suspended from school during adolescence are more likely than matched non-suspended youth to be arrested, on probation, or not graduate from high school, which are STI risk factors. This study evaluates whether suspension is a marker for STI risk among young adults who avoid subsequent negative effects.MethodsThis study evaluated whether suspension predicts a positive test for chlamydia, gonorrhea, or trichomoniasis in a urine sample using matched sampling in the National Longitudinal Study of Adolescent and Adult Health (Add Health), and evaluated potential mediators between suspension and STI status using causal mediation analysis. We used Mahalanobis and exact matched sampling within propensity score calipers to compare 381 youth suspended for the first time in a 1-year period with 980 non-suspended youth. The suspended and non-suspended youth were similar on 67 pre-suspension variables. We evaluated STI outcomes 5 years after suspension.ResultsBefore matching, suspended youth were more likely to test positive for trichomoniasis and gonorrhea, but not chlamydia, than non-suspended youth. Suspended youth were more likely to test positive for trichomoniasis 5 years after suspension than matched non-suspended youth (OR = 2.87 (1.40, 5.99)). Below-median household income before suspension explained 9% of the suspension-trichomoniasis association (p = 0.02), but criminal justice involvement and educational attainment were not statistically significantly mediators.ConclusionsSchool suspension is a marker for STI risk. Punishing adolescents for initial deviance may cause them to associate with riskier sexual networks even if they graduate high school and avoid criminal justice system involvement. Suspension may compound disadvantages for youth from below-median-income families, who have fewer resources for recovering from setbacks.
Efficacy of urination in alleviating man’s urethral pain associated with flexible cystoscopy: a single-center randomized trial
Authors: Xie Yingwei , Wang Wei , Yan Wei , Liu Dan , Liu Yuexin 
Published: January 2020

AbstractBackgroundThis study aimed to assess whether urethral pain can be alleviated by urination in male patients undergoing flexible cystoscopy.MethodsNinety-six male outpatients undergoing flexible cystoscopy were randomly divided into two groups. Patients in the test group urinated during flexible cystoscopy, whilst patients in the control group received no instructions to do so. All patients received 10 mL of 2% lidocaine gel prior to assessment. Using 0 (no-pain) to 10 (unbearable severe pain) pain scores (VAS), we assessed patient discomfort prior to anesthesia gel perfusion (baseline), during gel perfusion, during cystoscope insertion through the urethra, and 15 min post-examination analysis. The entire protocol was completed by a single doctor in our Department of Urology.ResultsThe groups showed no statistical differences regarding age or examination time. During cystoscope insertion, the test group recorded significantly lower pain scores 2 (IQR 1–3) - compared to the control group 3 (IQR 2–3), (P = 0.001). No significant differences between other evaluation points were observed between groups.ConclusionUrethral pain can be significantly alleviated by urination in male patients undergoing flexible cystoscopy through the urethra.Trial registrationRegistry name: Clinical study of urination action to relieve urethral pain associated with flexible cystoscopy.Registration number:ChiCTR-INR-17013294Date of Registration: 2017-11-08
Impact of metabolically healthy obesity on the risk of incident gastric cancer: a population-based cohort study
Authors: Hashimoto Yoshitaka , Hamaguchi Masahide , Obora Akihiro , Kojima Takao , Fukui Michiaki 
Published: January 2020

Abstract
Background
The risk of colon or breast cancer in metabolically healthy obese (MHO) were lower than that in metabolically abnormal obese (MAO). We hypothesized that the risk of incident gastric cancer in MHO is lower than that in MAO.

Methods
This historical cohort study included 19,685 Japanese individuals who received health-checkup programs from 2003 to 2016. Each subject was classified as metabolically healthy (MH) (no metabolic abnormalities) or metabolically abnormal (MA) (one or more metabolic abnormalities), according to four metabolic factors (hypertension, impaired fasting glucose, hypertriglyceridemia and low HDL-cholesterol). Obese (O) or non-obese (NO) was classified by a BMI cutoff of 25.0 kg/m2. Hazard ratios of metabolic phenotypes for incident gastric cancer were calculated by the Cox proportional hazard model with adjustments for age, sex, alcohol consumption, smoking and exercise.

Results
Over the median follow-up period of 5.5 (2.9–9.4) years, incident rate of gastric cancer was 0.65 per 1000 persons-years. Incident rate of MHNO, MHO, MANO and MAO were 0.33, 0.25, 0.80 and 1.21 per 1000 persons-years, respectively. Compared with MHNO, the adjusted hazard ratios for development of gastric cancer were 0.69 (95% CI 0.04–3.39, p = 0.723) in MHO, 1.16 (95% CI 0.63–2.12, p = 0.636) in MANO and 2.09 (95% CI 1.10–3.97, p = 0.024) in MAO.

Conclusions
This study shows that individuals with MAO, but not those with MHO, had an elevated risk for incident gastric cancer. Thus, we should focus more on the presence of metabolic abnormalities rather than obesity itself for incident gastric cancer.
Comparison of clear cell carcinoma and benign endometriosis in episiotomy scar - two cases report and literature review
Authors: Xu Song , Wang Wei , Sun Li Ping 
Published: January 2020

Abstract
Background
Malignant endometriosis in an episiotomy scar is rare; only seven cases have been reported previously. Here, we compare two cases of benign endometriosis and clear cell carcinoma.

Case presentation
The first case was a 54-year-old woman who presented with a large perineal lesion in her episiotomy scar with high 18F-fluorodeoxyglucose uptake. This location had a history of endometriosis many years ago. She underwent radical excision of the mass and bilateral inguinal lymph node dissection. Histological and immunohistochemical analysis confirmed the presence of clear cell carcinoma arising from endometriosis. Assisted radiotherapy was performed after surgery due to a positive lymph node. No recurrence was detected over a 1-year follow-up period. The second case deals with a 3 × 2 cm mass in the episiotomy scar of a 33-year-old woman. Part of the anal sphincter was resected because of the close proximity of the lesion. Because the disease lay very close to the anus, she received anal sphincter reconstruction combined with mass excision. Pathology result showed typical endometrial glands and interstitial tissues.

Conclusions
Deleterious change only happens in patients experiencing perineal endometriosis. Complete excision is crucial for this form of disease; sometimes impairment of the anal sphincter is also necessary. Patients with malignancy required a combination of treatments in order to improve their prognosis.