bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dengue fever and chikungunya virus infections: identification in travelers in Uganda – 2017
Authors: Kayiwa John T. , Nankya Annet M. , Ataliba Irene , Nassuna Charity A. , Omara Isaac E. , Koehler Jeffrey W. , Dye John M. , Mossel Eric C. , Lutwama Julius J. 
Published: November 2019

AbstractArboviruses are (re-) emerging viruses that cause significant morbidity globally. Clinical manifestations usually consist of a non-specific febrile illness that may be accompanied by rash, arthralgia and arthritis and/or with neurological or hemorrhagic syndromes. The broad range of differential diagnoses of other infectious and non-infectious etiologies presents a challenge for clinicians. While knowledge of the geographic distribution of pathogens and the current epidemiological situation, incubation periods, exposure risk factors and vaccination history can help guide the diagnostic approach, the non-specific and variable clinical presentation can delay final diagnosis. This case report summarizes the laboratory-based findings of three travel-related cases of arbovirus infections in Uganda. These include a patient from Bangladesh with chikungunya virus infection and two cases of dengue fever from Ethiopia. Early detection of travel-imported cases by public health laboratories is important to reduce the risk of localized outbreaks of arboviruses such as dengue virus and chikungunya virus. Because of the global public health importance and the continued risk of (re-) emerging arbovirus infections, specific recommendations following diagnosis by clinicians should include obtaining travel histories from persons with arbovirus-compatible illness and include differential diagnoses when appropriate.
Effect of etoposide on grass pea DNA topoisomerase II: an in silico, in vivo, and in vitro assessments
Authors: Samanta Aveek , Maity Tilak Raj , Das Sudip , Datta Animesh Kumar , Datta Siraj 
Published: December 2019

Abstract
Background
Etoposide is one of the most potential anti-cancerous drugs that targets topoisomerase II (topoII) and inhibits its activity by ligation with the DNA molecule.

Results
In silico study confirmed that the etoposide-binding sites of topoII are conserved among the plants and human. The efficacy of the drug on plant system was initially assessed using germinated grass pea (Lathyrus sativus L.) seedlings (in vivo) in relation to radicle length and mitotic index. The callus system (in vitro) was also used to elucidate the effect of etoposide on callus growth kinetics. Furthermore, it was observed that etoposide able to inhibit the division of polyploid cells induced by colchicine treatment (0.5%, 8 h). To determine the molecular interaction, topoII was isolated from young grass pea leaves using polyethylene glycol fractionation and ammonium sulphate precipitation followed by column chromatography on CM-Sephadex (C-25). The plasmid linearization assays by isolated plant topoII in the presence of etoposide significantly revealed the functional similarity of plants and human topoII. Results indicated that the effect of etoposide on plant topoII is significant.

Conclusions
This study may pave the way to develop a plant-based assay system for screening the topoisomerase targeted anti-cancerous drugs, as it is convenient and cost-effective.
Supporting mental health disclosure decisions: the Honest, Open, Proud programme
Authors: Scior Katrina , Rüsch Nicolas , White Chris , Corrigan Patrick W. 
Published: December 2019

SummaryThe stigma associated with mental health problems leaves many feeling they have to ‘hide’ their difficulties. Supporting them in making disclosure decisions can potentially improve well-being, reduce self-stigma and support recovery processes. In this editorial we discuss the case for interventions designed for this purpose and present one prominent programme: Honest, Open, Proud.
Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort
Authors: Garg Abhimanyu , Fazio Sergio , Duell P Barton , Baass Alexis , Udata Chandrasekhar , Joh Tenshang , Riel Tom , Sirota Marina , Dettling Danielle , Liang Hong , Garzone Pamela D , Gumbiner Barry , Wan Hong 
Published: November 2019

AbstractBackgroundFamilial hypercholesterolemia (FH) confers a very high risk of premature cardiovascular disease and is commonly caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9) and very rarely in LDLR adaptor protein 1 (LDLRAP1) genes.ObjectiveTo determine the prevalence of pathogenic mutations in the LDLR, APOB, and PCSK9 in a cohort of subjects who met Simon Broome criteria for FH and compare the clinical characteristics of mutation-positive and mutation-negative subjects.MethodsNinety-three men and 107 women aged 19 to 80 years from lipid clinics in the United States and Canada participated. Demographic and historical data were collected, physical examination performed, and serum lipids/lipoproteins analyzed. Targeted sequencing analyses of LDLR and PCSK9 coding regions and exon 26 of APOB were performed followed by detection of LDLR deletions and duplications.ResultsDisease-causing LDLR and APOB variants were identified in 114 and 6 subjects, respectively. Of the 58 LDLR variants, 8 were novel mutations. Compared with mutation-positive subjects, mutation-negative subjects were older (mean 49 years vs 57 years, respectively) and had a higher proportion of African Americans (1% vs 12.5%), higher prevalence of hypertension (21% vs 46%), and higher serum triglycerides (median 86 mg/dL vs 122 mg/dL) levels.ConclusionsLDLR mutations were the most common cause of heterozygous FH in this North American cohort. A strikingly high proportion of FH subjects (40%) lacked mutations in known culprit genes. Identification of underlying genetic and environmental factors in mutation-negative patients is important to further our understanding of the metabolic basis of FH and other forms of severe hypercholesterolemia.
A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness
Authors: Alghamdi Malak , Al Khalifah Reem , Al Homyani Doua K , Alkhamis Waleed H , Arold Stefan T , Ekhzaimy Aishah , El-Wetidy Mohammed , Kashour Tarek , Halwani Rabih 
Published: November 2019

Abstract

Background
The TBX1 gene encodes the T-box 1 protein that is a transcription factor involved in development. Haploinsufficiency of the TBX1 gene is reported to cause features similar to DiGeorge syndrome. The TBX1 gene is located within the DiGeorge syndrome region, and studies support that the TBX1gene is responsible for most of the features of the phenotype of hemizygous deletion of chromosome 22q11.2. In this study, we report a family of 4 (a father with 3 children) who presented with congenital hypoparathyroidism and hypocalcemia, facial asymmetry, deafness, normal intelligence, and no cardiac involvement.

Methods
We performed whole genome sequencing, computational structural analysis of the mutants, and gene expression studies for all affected family members.

Results
Whole genome sequencing revealed a paternal inherited novel heterozygous variant, c.1158_1159delinsT p.(Gly387Alafs*73), in the exon 9 isoform C TBX1 gene, causing a loss of nuclear localization sequence (NLS) and transactivation domain (TAD) with no change in gene expression and resulted in a DiGeorge-like phenotype.

Conclusion
A pathogenic variant in the TBX1 gene exon 9 C that predicted to cause a loss in the NLS region and most of TAD leads to variable features of hypoparathyroidism, distinctive facial features, deafness, and no cardiac involvement. In addition, our report and previous reports indicate the presence of a wide phenotypic spectrum of TBX1 genetic variants and the consistent absence of cardiac involvement in the case of pathogenic variants on exon 9 isoform C TBX1 gene.
Mitochondrial and Metabolic Myopathies
Authors: Cohen Bruce H. 
Published: December 2019

ABSTRACTPURPOSE OF REVIEWThis article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on those syndromes and diseases associated with myopathy. Over the past decade, advances in genetic testing have revolutionized patient evaluation. The main goal of this review is to give the clinician the basic understanding to recognize patients at risk of these diseases using the standard history and physical examination.RECENT FINDINGSPrimary mitochondrial diseaseis the current designation for the illnesses resulting from genetic mutations in genes whose protein products are necessary for mitochondrial structure or function. In most circumstances, more than one organ system is involved in mitochondrial disease, and the value of the classic clinical features as originally described early in the history of mitochondrial diseases has reemerged as being important to identifying patients who may have a primary mitochondrial disease. The use of the genetic laboratory has become the most powerful tool for confirming a diagnosis, and nuances of using genetic results will be discussed in this article. Treatment for mitochondrial disease is symptomatic, with less emphasis on vitamin and supplement therapy than in the past. Clinical trials using pharmacologic agents are in progress, with the field attempting to define proper goals of treatment. Several standard accepted therapies exist for many of the metabolic myopathies.SUMMARYMitochondrial, lipid, and glycogen diseases are not uncommon causes of multisystem organ dysfunction, with the neurologic features, especially myopathy, occurring as a predominant feature. Early recognition requires basic knowledge of the varied clinical phenotypes before moving forward with a screening evaluation and possibly a genetic evaluation. Aside from a few specific diseases for which there are recommended interventions, treatment for the majority of these disorders remains symptomatic, with clinical trials currently in progress that will hopefully result in standard treatments.
Heineke-Mikulicz pyloroplasty for isolated pyloric stricture caused by corrosive ingestion in children
Authors: Soomro Muhammad Aqil , Aftab Maryam , Hasan Maria , Arbab Hana 
Published: November 2019

Corrosive ingestion in children is a common problem in low income countries. These agents cause injuries and later strictures of esophagus and stomach. Gastric outlet obstruction is known complication of acids and surgery is the mainstay of treatment. There are multitude of surgical options for these strictures depending on the involved segment of the stomach and experience of the surgeon. Here we present three cases of children who accidentally ingested acid stored in soda bottles and subsequently developed isolated pyloric strictures. These cases presented between August 2018 and April 2019 to our facility, a tertiary care hospital in Karachi, Pakistan. All three patients had an initial latent period of one to two weeks following corrosive ingestion, after which symptoms of gastric outlet obstruction appeared. Intraoperatively, all three had normal esophagus and antrum but scarred and strictured pylorus. Heineke-Mikulicz pyloroplasty was done in these cases without complications and the outcomes were satisfactory.
doi: https://doi.org/10.12669/pjms.36.ICON-Suppl.1714
How to cite this:Soomro MA, Aftab M, Hasan M, Arbab H. Heineke-Mikulicz pyloroplasty for isolated pyloric stricture caused by corrosive ingestion in children. Pak J Med Sci. Special Supplement ICON 2020. 2020;36(1):S87-S90. doi: https://doi.org/10.12669/pjms.36.ICON-Suppl.1714
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
The state of cancer in Meru, Kenya: a retrospective study
Authors: Kobia Francis , Gitaka Jesse , Makokha Francis , Kamita Moses , Kibera Joshua , Mwenda Cynthia , Mucee Gladys , Kilingo Bactrin 
Published: December 2019

Background: It is projected that by 2030, 70% of all cancer related deaths will occur in low-middle income countries. However, data on the state of cancer in most African countries is scanty. Cancer estimates for Kenya are based on the Nairobi and Eldoret cancer registries, leaving most parts of the country unrepresented. Lacking national coverage, these data do not accurately reflect Kenya’s cancer burden. The paucity of reliable data impedes formulation of effective cancer control strategies and cancer research prioritization. Here, we report the findings of a retrospective study of the cancer state in Meru County, Kenya. Methods: A retrospective analysis of patient files at Meru hospice was carried out. 2349 cancer cases seen at the Meru hospice between 2003 and 2018 were analyzed. Data abstracted from the records included patient age, gender and cancer type. The abstracted data was analyzed by descriptive statistics. Results: Our results indicate that cancer is almost evenly distributed across genders, with men accounting for 49% and women 51%. Stomach cancer rates are strikingly elevated and equal to those in countries with the highest stomach cancer rates globally – making it the commonest cancer in this region (14%). Among men, the most common cancers affect the prostate (18%), stomach (17%), esophagus (14%), head & neck (12%), liver (8%) and colorectum (5%). Among women, the commonest are cancers of the breast (22%), cervix (20%), stomach (11%), esophagus (8%), head & neck (6%) and liver (5%). Breast cancer occurs at a notably early age, with 20% of those affected aged below 40. Lung cancer rates are notably low in this region (1.3%) relative to world estimates. Conclusion: Cancer distribution in Meru is nearly even between sexes. Our analysis suggests that the Meru region is a stomach cancer hotspot and that it also experiences elevated esophageal cancer levels.
Literatura, fantasía y realidad
Authors: Román Celso 
Published: December 2019

La conferencia se basa en la exposición de los siguientes temas: la palabra como entidad generadora de realidades en nuestra mente, a la vez que es una herramienta creadora de mundos; la metáfora como un recurso literario que identifica dos términos entre los cuales existe alguna semejanza, asumida como instrumento que por comparación permite apropiar ideas del mundo; la palabraen relación con el habla humana, más allá de la simple comunicación de un mensaje, asumida como transformadora de la realidad a lo largo de la historia; el mito de creación como explicación mágica del mundo por todos los pueblos; la leyenda, como un encuentro entre dioses y humanos, ya sea para ayudarles, o para ponerles condiciones; los cuentos de hadas y populares como historias que le suceden, simple y llanamente, a los seres humanos y son el resultado de la confluencia entre Europa y América, a lo largo de varios siglos.
Job competition, human capital, and the lock-in effect: can unemployment insurance efficiently allocate human capital
Authors: Schwartz Jeremy 
Published: November 2019

Abstract
Workers, firms and policymakers often face a trade-off between shorter unemployment spells on the one hand, and better quality matches on the other. During recessions this manifests itself through job competition, where high skilled workers misallocate their labor to positions for which they are over-qualified in order get back to work faster. In the presence of job-specific human capital, as high skilled workers gain experience in this low skilled sector they may find themselves “locked in” to these jobs. This is because workers will not want to lose their seniority by searching for a job that better utilizes their general human capital. As a result, this misallocation can persist even in economic recoveries leading to inefficient outcomes. This paper explores such an economy and finds that a UI system that becomes more generous during a recession increases welfare and better allocates human capital over the business cycle.
Thrombo-inflammatory prognostic score improves qSOFA for risk stratification in patients with sepsis: a retrospective cohort study
Authors: Li Dongze , Cheng Yisong , Yu Jing , Jia Yu , Liu Bofu , Xia Yiqin , Zhang Qin , Liu Yanmei , Ma Yan , Yao Rong , Zeng Zhi , Cao Yu , Xu Shuyun 
Published: November 2019

Abstract

Background
Both the thrombo-inflammatory prognostic score (TIPS) and the quick sequential (sepsis-related) organ failure assessment (qSOFA) are quick prognostic scores for sepsis during the early phase, while either of two scores has limited prognostic value for sepsis patients. This study aimed to evaluate whether TIPS adds more information of sepsis risk stratification for qSOFA.

Methods
This was a retrospective cohort study of patients with sepsis in the emergency department (ED). We performed a receiver-operating characteristic curve, integrated discrimination improvement (IDI), net reclassification improvement (NRI) and decision-curve analysis (DCA) analyses to investigate whether TIPS can improve qSOFA for risk prediction in patients with sepsis. The primary endpoint was mortality and the secondary endpoints were mechanical ventilation and admission to the intensive care unit (ICU) during the 28-day follow-up.

Results
We identified 821 patients with sepsis. We randomly assigned the patients’ data to a derivation group (n = 498; n = 112 died during the 28-days follow-up) or to a validation group (n = 323; n = 61). The addition of TIPS to qSOFA (T-qSOFA) improved the area under the curve (AUC) from 0.724 to 0.824 (p < 0.001) for predicting 28-day mortality. The discrimination improvement was confirmed by an IDI of 0.092 (p < 0.001). Addition of TIPS to the qSOFA resulted in a NRI of 0.247 (p < 0.001). The DCA showed that the net benefit of T-qSOFA was higher than that of TIPS or qSOFA for any threshold probabilities.

Conclusions
The prognostic value of qSOFA for patients with sepsis was enhanced by adding the TIPS score on admission for risk prediction in patients with sepsis during early phases in the ED.
On a Nonlinear System of Reaction-Diffusion Equations
Authors: Afrouzi G. A. , Rasouli S. H. 
Published: December 2019

The aim of this article is to study the existence of positive weak solution for a quasilinear reaction-diffusion system with Dirichlet boundary conditions,− div(|∇u1|p1−2∇u1) = λu1α11u2α12... unα1n, x ∈ Ω,− div(|∇u2|p2−2∇u2) = λu1α21u2α22... unα2n, x ∈ Ω, ... , − div(|∇un|pn−2∇un) = λu1αn1u2αn2... unαnn, x ∈ Ω,ui = 0, x ∈ ∂Ω, i = 1, 2, ..., n,
where λ is a positive parameter, Ω is a bounded domain in RN (N > 1) with smooth boundary ∂Ω. In addition, we assume that 1 < pi < N for i = 1, 2, ..., n. For λ large by applying the method of sub-super solutions the existence of a large positive weak solution is established for the above nonlinear elliptic system.
Genre-Based Approach: Its Contribution to The Quality of Teaching And Learning Process
Authors: Wijayanti Siti Fathonah , Nurkamto Joko , Sulistyawati Hefy 
Published: November 2019

<p>The article aims at describing the implementation of Genre-Based Approach (GBA) in the teaching of English and identifying its contribution to the quality of teaching and learning process. A naturalistic inquiry was conducted at the eleventh grade of a Senior High School in Central Java, Indonesia. The findings of the study suggest that GBA contributes positively to the teaching and learning process in that it helps developing learners’ productive skills. Nevertheless, insufficient scaffolding during the learning process resulted in learners’ skills which are superficial rather than communicative in nature. Such insufficient scaffolding is arguably related to inappropriate activities during the joint construction stage, partial application of the Curriculum Cycle, and the absence of integrated grammar teaching during the teaching and learning process. Contextual factors such as the lack of planning and inadequate teacher training are of major contribution to the phenomenon.</p><p align="left"> </p>
NOA Air-Quality Lessons Learned During Calaveras Dam Replacement Project
Authors: Eklund Bart , Roadifer John , Wong Noel , Forrest Michael 
Published: December 2019

ABSTRACT
The Calaveras Dam Replacement Project (CDRP) pioneered technical approaches for addressing community exposure to naturally occurring asbestos (NOA) via the inhalation pathway. Over the course of the CDRP, approaches were developed for key issues, including determining the NOA particles of interest, defining the toxicity limits to apply to various types of NOA particles, establishing dust control, and creating appropriate feedback loops for using laboratory data. Specific issues of interest included whether to count only structures above a certain length and the inhalation unit risk value to use for amphiboles. The knowledge gained on the CDRP can and is being used to optimize NOA evaluation and control at other, similar projects.
RNA-Seq reveals differential expression profiles and functional annotation of genes involved in retinal degeneration in Pde6c mutant Danio rerio
Authors: Saddala Madhu Sudhana , Author) Anton Lennikov(Former Corresponding , Bouras Adam , Author) Hu Huang(New Corresponding 
Published: December 2019

Abstract
Background
Retinal degenerative diseases affect millions of people and represent the leading cause of vision loss around the world. Retinal degeneration has been attributed to a wide variety of causes, such as disruption of genes involved in phototransduction, biosynthesis, folding of the rhodopsin molecule, and the structural support of the retina. The molecular pathogenesis of the biological events in retinal degeneration is unclear; however, the molecular basis of the retinal pathological defect can be potentially determined by gene-expression profiling of the whole retina. In the present study, we analyzed the differential gene expression profile of the retina from a wild-type zebrafish and phosphodiesterase 6C (pde6c) mutant.
Results
The datasets were downloaded from the Sequence Read Archive (SRA), and adaptors and unbiased bases were removed, and sequences were checked to ensure the quality. The reads were further aligned to the reference genome of zebrafish, and the gene expression was calculated. The differentially expressed genes (DEGs) were filtered based on the false discovery rate (FDR) (±4) and p-values (p < 0.001). We performed gene annotation (molecular function [MF], biological process [BP], cellular component [CC]) and determined the functional pathways Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway for the DEGs. Our result showed 216 upregulated and 3,527 downregulated genes between normal and pde6c mutant zebrafish. These DEGs are involved in various KEGG pathways, such as the phototransduction (12 genes), mRNA surveillance (17 genes), phagosome (25 genes), glycolysis/gluconeogenesis (15 genes), adrenergic signaling in cardiomyocytes (29 genes), ribosome (20 genes), the citrate cycle (TCA cycle; 8 genes), insulin signaling (24 genes), oxidative phosphorylation (20 genes), and RNA transport (22 genes) pathways. Many more of all the pathway genes were downregulated, while fewer were upregulated in the retina of mutant zebrafish.
Conclusions
Our data strongly indicate that, among these genes, the above-mentioned pathways’ genes as well as calcium-binding, neural damage, peptidase, immunological, and apoptosis proteins are mostly involved in the retinal and neural degeneration that cause abnormalities in photoreceptors or retinal pigment epithelium (RPE) cells.