bluuebunny/crossref_metadata_2025_split huggingface dataset:
A child with household transmitted COVID-19
Authors: Mao Li-juan , Xu Jian , Xu Zhi-hao , Xia Xiao-ping , Li Bin , He Jian-guo , Zhao Peng , Pan Jian-wei , Zhang Dan , Su Yue , Wang Yue-hong , Yuan Zhe-feng 
Published: May 2020

Abstract
Background
Although people of all ages are susceptible to the novel coronavirus infection, which is presently named “Coronavirus Disease 2019” (COVID-19), there has been relatively few cases reported among children. Therefore, it is necessary to understand the clinical characteristics of COVID-19 in children and the differences from adults.

Case presentation
We report one pediatric case of COVID-19. A 14-month-old boy was admitted to the hospital with a symptom of fever, and was diagnosed with a mild form of COVID-19. The child’s mother and grandmother also tested positive for SARS-CoV-2 RNA. However, the lymphocyte counts were normal. The chest computed tomography (CT) revealed scattered ground glass opacities in the right lower lobe close to the pleura and resorption after the treatment. The patient continued to test positive for SARS-CoV-2 RNA in the nasopharyngeal swabs and stool at 17 days after the disappearance of symptoms.

Conclusion
The present pediatric case of COVID-19 was acquired through household transmission, and the symptoms were mild. Lymphocyte counts did not significantly decrease. The RNA of SARS-CoV-2 in stool and nasopharyngeal swabs remained positive for an extended period of time after the disappearance of symptoms. This suggests that attention should be given to the potential contagiousness of pediatric COVID-19 cases after clinical recovery.
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
Authors: Sumathipala Dulika , Strømme Petter , Gilissen Christian , Einarsen Ingunn Holm , Bjørndalen Hilde J. , Server Andrés , Corominas Jordi , Hassel Bjørnar , Fannemel Madeleine , Misceo Doriana , Frengen Eirik 
Published: May 2020

Abstract
Background
Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular hypotonia, psychomotor delay, and cerebellar ataxia. Cerebral MRI shows mid- and hindbrain anomalies including the molar tooth sign. We report a male patient with atypical presentation of Joubert syndrome type 23, thus expanding the phenotype.

Case presentation
Clinical features were consistent with JBTS already from infancy, yet the syndrome was not suspected before cerebral MRI later in childhood showed the characteristic molar tooth sign and ectopic neurohypophysis. From age 11 years seizures developed and after few years became increasingly difficult to treat, also related to inadequate compliance to therapy. He died at 23 years of sudden unexpected death in epilepsy (SUDEP). The genetic diagnosis remained elusive for many years, despite extensive genetic testing. We reached the genetic diagnosis by performing whole genome sequencing of the family trio and analyzing the data with the combination of one analysis pipeline for single nucleotide variants (SNVs)/indels and one for structural variants (SVs). This lead to the identification of the most common variant detected in patients with JBTS23 (OMIM# 616490), rs534542684, in compound heterozygosity with a 8.3 kb deletion in KIAA0586, not previously reported.

Conclusions
We describe for the first time ectopic neurohypophysis and SUDEP in JBTS23, expanding the phenotype of this condition and raising the attention on the possible severity of the epilepsy in this disease. We also highlight the diagnostic power of WGS, which efficiently detects SNVs/indels and in addition allows the identification of SVs.
Postpartum visits in the gynecological emergency room: How can we improve?
Authors: Weissmann-Brenner Alina , Heusler Ishai , Manteka Renana , Dulitzky Mordechai , Baum Micha 
Published: May 2020

Abstract
Background
The attendance to the gynecological-emergency-room (GER) of women only a few weeks following previous discharge after birth comprises a medical as well as social problem. The objective of the study was to characterize the postpartum women that attended the GER, and depict the leading etiologies and risk-factors that lead them to attend the GER, and to examine correlations between their medical findings at discharge and the reasons for their attendance to the hospital.

Methods
All women that attended the GER between 01/01/2016 and 30/09/2016 during 6 weeks after birth were included. The variables assessed were: medical history, mode of birth, maternal complications of birth, diagnosis at the GER, treatment received and readmission.

Results
There were 446 visits of 413 women (5.6% of all deliveries). Most were generally healthy after their first normal vaginal birth with no complications during or following birth. 38.7% had a cesarean birth (p < 0.001). The most common causes of the visits were fever (30.3%), problems in episiotomy or surgical scar (26.6%) and abdominal pain (25.7%). Women with hypertensive disorders during birth had significantly more hypertensive problems in the GER. Diabetic women suffered statistically more from hypertensive disorder in the GER. 33.2% were examined and found healthy. Seventy-two women (1% of all deliveries) were hospitalized, most of them due to infection. Only 7.5% were referred to the GER due to bleeding.

Conclusions
Postpartum women are at risk of morbidities, especially following cesarean sections and in women with hypertensive disorders of during pregnancy. Scheduled visits to high-risk women to attend outpatient clinic sooner are recommended.
Dynamics of the bacterial gut microbiota in preterm and term infants after intravenous amoxicillin/ceftazidime treatment
Authors: Zwittink Romy D. , van Zoeren-Grobben Diny , Renes Ingrid B. , van Lingen Richard A. , Norbruis Obbe F. , Martin Rocio , Groot Jebbink Liesbeth J. , Knol Jan , Belzer Clara 
Published: May 2020

Abstract
Background
It is important to understand the consequences of pre-emptive antibiotic treatment in neonates, as disturbances in microbiota development during this key developmental time window might affect early and later life health outcomes. Despite increasing knowledge regarding the detrimental effect of antibiotics on the gut microbiota, limited research focussed on antibiotic treatment duration. We determined the effect of short and long amoxicillin/ceftazidime administration on gut microbiota development during the immediate postnatal life of preterm and term infants.

Methods
Faeces was collected from 63 (pre) term infants at postnatal weeks one, two, three, four and six. Infants received either no (control), short-term (ST) or long-term (LT) postpartum amoxicillin/ceftazidime treatment.

Results
Compared to control infants, ST and LT infants’ microbiota contained significantly higher abundance of Enterococcus during the first two postnatal weeks at the expense of Bifidobacterium and Streptococcus. Short and long antibiotic treatment both allowed for microbiota restoration within the first six postnatal weeks. However, Enterococcus and Bifidobacterium abundances were affected in fewer ST than LT infants.

Conclusions
Intravenous amoxicillin/ceftazidime administration affects intestinal microbiota composition by decreasing the relative abundance of Escherichia-Shigella and Streptococcus, while increasing the relative abundance of Enterococcus and Lactobacillus species during the first two postnatal weeks. Thriving of enterococci at the expense of bifidobacteria and streptococci should be considered as aspect of the cost-benefit determination for antibiotic prescription.
Congenital diaphragmatic hernia presenting with symptoms within the first day of life; outcomes from a non-ECMO centre in Denmark
Authors: Larsen Ulla Lei , Jepsen Søren , Strøm Thomas , Qvist Niels , Toft Palle 
Published: May 2020

Abstract
Background
Between 1998 and 2015, we report on the survival of congenital diaphragmatic hernia (CDH)-infants presenting with symptoms within the first 24 h of life, treated at Odense University Hospital (OUH), a tertiary referral non-extracorporeal membrane oxygenation (ECMO) hospital for paediatric surgery.

Methods
We performed a retrospective cohort study of prospectively identified CDH-infants at our centre. Data from medical records and critical information systems were obtained. Baseline data included mode of delivery and infant condition. Outcome data included 24-h, 28-day, and 1 year mortality rates and management data included intensive care treatment, length of stay in the intensive care unit, time of discharge from hospital, and surgical intervention. Descriptive analyses were performed for all variables. Survivors and non-survivors were compared for baseline and treatment data.

Results
Ninety-five infants were identified (44% female). Of these, 77% were left-sided hernias, 52% were diagnosed prenatally, and 6.4% had concurrent malformations. The 28-day mortality rate was 21.1%, and the 1 year mortality rate was 22.1%. Of the 21 non-survivors, nine died within the first 24 h, and 10 were sufficiently stabilised to undergo surgery. A statistically significant difference was observed between survivors and non-survivors regarding APGAR score at 1 and 5 min., prenatal diagnosis, body length at birth, and delivery at OUH.

Conclusions
Our outcome results were comparable to published data from other centres, including centres using ECMO.
CT differential diagnosis of COVID-19 and non-COVID-19 in symptomatic suspects: a practical scoring method
Authors: Luo Lin , Luo Zhendong , Jia Yizhen , Zhou Cuiping , He Jianlong , Lyu Jianxun , Shen Xinping 
Published: May 2020

Abstract
Background
Although typical and atypical CT image findings of COVID-19 are reported in current studies, the CT image features of COVID-19 overlap with those of viral pneumonia and other respiratory diseases. Hence, it is difficult to make an exclusive diagnosis.

Methods
Thirty confirmed cases of COVID-19 and forty-three cases of other aetiology or clinically confirmed non-COVID-19 in a general hospital were included. The clinical data including age, sex, exposure history, laboratory parameters and aetiological diagnosis of all patients were collected. Seven positive signs (posterior part/lower lobe predilection, bilateral involvement, rounded GGO, subpleural bandlike GGO, crazy-paving pattern, peripheral distribution, and GGO +/− consolidation) from significant COVID-19 CT image features and four negative signs (only one lobe involvement, only central distribution, tree-in-bud sign, and bronchial wall thickening) from other non-COVID-19 pneumonia were used. The scoring analysis of CT features was compared between the two groups (COVID-19 and non-COVID-19).

Results
Older age, symptoms of diarrhoea, exposure history related to Wuhan, and a lower white blood cell and lymphocyte count were significantly suggestive of COVID-19 rather than non-COVID-19 (p < 0.05). The receiver operating characteristic (ROC) curve of the combined CT image features analysis revealed that the area under the curve (AUC) of the scoring system was 0.854. These cut-off values yielded a sensitivity of 56.67% and a specificity of 95.35% for a score > 4, a sensitivity of 100% and a specificity of 23.26% for a score > 0, and a sensitivity of 86.67% and a specificity of 67.44% for a score >  2.

Conclusions
With a simple and practical scoring system based on CT imaging features, we can make a hierarchical diagnosis of COVID-19 and non-COVID-19 with different management suggestions.
Influence of KISS1 gene polymorphisms on the risk of polycystic ovary syndrome and its associated variables, in Saudi women
Authors: Daghestani Maha H. , Daghestani Mazin H. , Daghistani Mamoon , Ambreen Khushboo , Albalawi Fadwa S. , AlNeghery Lina M. , Warsy Arjumand S. 
Published: May 2020

Abstract
Background
Polycystic ovary syndrome (PCOS) is a complex multifactorial disorder, affecting millions of women worldwide. The role of genetic polymorphisms of the KISS1 gene on the development of PCOS is still obscure. This study was designed to investigate the probable influence of KISS1 gene polymorphisms on PCOS and its associated variables: BMI, waist-hip ratio, kisspeptin, LH, FSH, and LH-FSH ratio.

Methods
The study comprised 104 PCOS women and 109 controls, with age ranging from 19 to 36 years. BMI, waist-hip ratio, and circulating levels of kisspeptin, LH, and FSH were measured. DNA was extracted, and genotyping of the KISS1 gene was carried out by nucleotide sequencing. The PCOS-associated variables were analyzed in different genotypes of single nucleotide polymorphisms (SNPs) of the KISS1 gene.

Results
The values of waist-hip ratio (WHR), LH, and LH-FSH ratio were significantly higher in PCOS women than controls. BMI, kisspeptin, and FSH levels exhibited no significant difference between the groups. Six novel SNPs of KISS1 gene were identified. Three: rs372790354G > A, rs12998G > A, and rs35431622A > T were investigated. Among these SNPs, the genotype and allele frequencies of rs372790354 showed significant association with PCOS (GA: p = 0.018, AA: p = 0.022, mutant allele-A: p = 0.021) and the G allele was protective. The values of LH, kisspeptin, and WHR of PCOS women were significantly influenced (p < 0.05) by the AA genotype of rs372790354. The other two SNPs rs12998G > A and rs35431622A > T revealed no significant influence on PCOS and associated variables. Haplotypes were constructed, but there was no significant difference between the patients and controls.

Conclusion
In conclusion, this is the first study, which reports a significant influence of KISS1 gene polymorphism (rs372790354G > A) on PCOS and its associated variables. However, more extensive research is necessary to confirm these findings.
Role of community pharmacists in weight management: results of a national study in Lebanon
Authors: Hijazi Mohamad Ali , Shatila Hibeh , El-Lakany Abdalla , Al Rifai Hiba , Aboul-Ela Maha , Naja Farah 
Published: May 2020

AbstractBackgroundIdeally situated within the community, pharmacists can be involved in a broad range of health promotion campaigns including prevention of obesity. Limited evidence is available regarding their involvement in weight management in Lebanon, a country with escalating prevalence rate of obesity.ObjectiveTo examine the role of community pharmacists in weight management in Lebanon, specifically studying their beliefs, current practices, services, and knowledge.MethodsUsing a stratified random sampling approach, a cross sectional national survey of community pharmacists was conducted (n = 341, response rate 89%). At the pharmacy, and through a face-to-face interview, pharmacists completed a multi-component questionnaire that addressed, in addition to socio-demographic and work characteristics, their beliefs, practices, knowledge in relation to weight management. Frequencies and proportions were used to describe the data. Simple and multiple linear regression analyses were used to examine the determinants of knowledge in the study population.ResultsOver 80% of study participants agreed that they have an important role to play in weight management. However, 50% of pharmacists did not agree that weight loss products are well regulated and 81.1% thought that companies marketing weight loss products are making false promises. The majority of pharmacists always/often sold weight loss products (84.7%) and counseled their patients for diet (86.3%) and physical activity (91.7%). Despite taking weight and height measurements, 50% of pharmacists rarely/never calculated BMI. Among the pharmacists who reported side effects of weight loss products (46.5%), the majority (91.3%) did so to the pharmaceutical company. The knowledge of pharmacists was better for the use of weight loss products as opposed to their side effects and interactions. Significant predictors of knowledge were holding a Masters/ PhD degree in Pharmacy, graduating from a university inside Lebanon, obtaining weight management training within the academic degree, and receiving inquiries about weight management in the pharmacy more than once daily.ConclusionsThe results of the study provided important insights on the beliefs, practices and knowledge of community pharmacists in weight management in Lebanon. These findings could be used to inform the development of future evidence-based community pharmacists led weight management service provision nationally and internationally.
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1
Authors: Wang Qingming , Chen Pengliang , Liu Jianxin , Lou Jiwu , Liu Yanhui , Yuan Haiming 
Published: May 2020

Abstract
Background
Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ID. Currently, few Xp11.22 duplication cases have been reported in the Chinese population, with limited knowledge regarding the role of other genes in this interval.

Case presentation
We investigated four unrelated Chinese male Xp11.22 duplication patients, performed a comprehensive clinical evaluation for the patients and discussed the role of other genes in this interval. All patients presented with similar clinical features, including ID, speech impairments and motor delay, which were mostly consistent with those of the Xp11.22 duplication described previously. We searched and compared all cases and noted that one of the probands (Family 1) and DECIPHER case 263,219, who carried small overlapping duplications at Xp11.22 that only covered the entire HSD17B10 gene, also suffered from ID, suggesting the important role of HSD17B10 in this interval. Furthermore, three patients (two probands in Families 3 and 4 and DECIPHER case 249,490) had strikingly similar hypogonadism phenotypes, including micropenis, small testes and cryptorchidism, which have not been previously described in Xp11.22 duplication patients. Interestingly, the FGD1 gene was duplicated only in these three patients. Sufficient evidence has suggested that haploinsufficiency of the FGD1 gene causes Aarskog-Scott syndrome, which is characterized by hypogonadism and other abnormalities. Given that, we are the first group to propose that FGD1 may be a potential dosage-sensitive gene responsible for the hypogonadism observed in our patients.

Conclusion
We reported novel genotypes and phenotypes in Chinese male Xp11.22 duplication patients, and the HSD17B10 and FGD1 genes may be involved.
An individualized immune prognostic signature in lung adenocarcinoma
Authors: Sun Liangdong , Jiang Gening , Gonzalez-Rivas Diego , Zhang Peng 
Published: May 2020

AbstractBackgroundTumor immune infiltration is closely associated with clinical outcome in lung cancer. We aimed to develop an immune signature to improve the prognostic predictions of lung adenocarcinoma (LUAD).MethodsWe applied “Cell type Identification by Estimating Relative Subsets of RNA Transcripts” method to quantify the fraction of 22 leukocyte cells from six public microarray datasets. Four datasets from GPL570 were treated as the training cohort and two datasets from GPL96 and GPL10379 as the validation cohorts. An immune risk score (IRS) based on leukocyte cell fraction was established by least absolute shrinkage and selection operator cox regression model.ResultsIRS consisting of 6 types of leukocytes was constructed in the training dataset. In the training cohort (520 patients), the IRS stratified patients into high-IRS group (215 patients) and low-IRS group (305 patients) with significant differences in overall survival (OS) (HR: 2.77, 95% CI 2.08–3.06). Multivariate analysis including age, gender, stage, IRS and tumor purity revealed the IRS to be an independent prognostic factor in all datasets (training: HR: 10.71, 95% CI 5.72–20.07; validation-1: HR 2.68, 95% CI 1.15–6.27; validation-2: HR 3.71, 95% CI 1.33–10.33); all p < 0.05). IRS was significantly positively correlated to the expression levels of PD1, PDL1, CTLA and LAG3 (all p < 0.001). When integrated with clinical characteristics including stage and age, the composite immune and clinical signature presented with improved prognostic accuracy than IRS (mean C-index 0.66 vs. 0.60).ConclusionsThe proposed immune-clinical signature could predict OS in patients with LUAD effectively.
Efficacy of direct current generated by multiple-electrode arrays on F3II mammary carcinoma: experiment and mathematical modeling
Authors: Goris Narciso Antonio Villar , Rodríguez Jorge Luis García , González Maraelys Morales , Borges Beatriz Olivares , Morales Dasha Fuentes , Calzado Enaide Maine , Castañeda Antonio Rafael Selva , Torres Leonardo Mesa , Montijano Juan Ignacio , González Victoriano Gustavo Sierra , Pérez Daniel Jay , Posada Oscar Ortiz , Martínez Janet Avellanet , Delgado Arlem García , Martínez Karina García , Mon Mayrel Labrada , Monzón Kalet León , Ciria Héctor Manuel Camué , Cabrales Luis Enrique Bergues 
Published: May 2020

Abstract
Background
The modified Gompertz equation has been proposed to fit experimental data for direct current treated tumors when multiple-straight needle electrodes are individually inserted into the base perpendicular to the tumor long axis. The aim of this work is to evaluate the efficacy of direct current generated by multiple-electrode arrays on F3II mammary carcinoma that grow in the male and female BALB/c/Cenp mice, when multiple-straight needle electrodes and multiple-pairs of electrodes are inserted in the tumor.

Methods
A longitudinal and retrospective preclinical study was carried out. Male and female BALB/c/Cenp mice, the modified Gompertz equation, intensities (2, 6 and 10 mA) and exposure times (10 and 20 min) of direct current, and three geometries of multiple-electrodes (one formed by collinear electrodes and two by pair-electrodes) were used. Tumor volume and mice weight were measured. In addition, the mean tumor doubling time, tumor regression percentage, tumor growth delay, direct current overall effectiveness and mice survival were calculated.

Results
The greatest growth retardation, mean doubling time, regression percentage and growth delay of the primary F3II mammary carcinoma in male and female mice were observed when the geometry of multiple-pairs of electrodes was arranged in the tumor at 45, 135, 225 and 325o and the longest exposure time. In addition, highest direct current overall effectiveness (above 66%) was observed for this EChT scheme.

Conclusions
It is concluded that electrochemical therapy may be potentially addressed to highly aggressive and metastic primary F3II murine mammary carcinoma and the modified Gompertz equation may be used to fit data of this direct current treated carcinoma. Additionally, electrochemical therapy effectiveness depends on the exposure time, geometry of multiple-electrodes and ratio between the direct current intensity applied and the polarization current induced in the tumor.