Puberty is a transition period where a child transforms to an adult. Puberty can be affected by various genetic factors and environmental influences. In mammals, the regulation of puberty is enhanced by the hypothalamic-pituitary-gonadal axis (HPG axis). A number of genes such as GnRH, Kiss1, and GPR54 have been reported as key regulators of puberty onset. In this study, we have conducted an association study of puberty-related candidate genes in Chinese female population. Gene variations reported...
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Introduction. Beta-blocker use evaluation is a performance method that focuses on the evaluation of beta-blocker use processes to achieve optimal patient outcomes. Several studies conducted in different hospitals revealed a high incidence of inappropriate prescription of beta-blockers among hospitalized patients. Therefore, it is important to identify inappropriate beta-blocker prescribing since they may increase the risk of hospitalizations. Despite this, there was no study conducted related to...
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Background. The reports and information on coronavirus are not conspicuously emphasising the possible impact of population density on the explanation of difference in rapid spread and fatality due to the disease and not much has been done on bicountry comparisons. Objective. The study examined the impact of population density on the spread of COVID-19 pandemic in two sociodemographic divergent countries. Methods. The study conducted a scoping review of published and unpublished articles including...
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Distinguishing well-differentiated liposarcoma (WDLPS) from dedifferentiated liposarcoma (DDLPS) is essential given distinct treatment paradigms and chemosensitivity. Percutaneous biopsy has a low sensitivity for detecting DDLPS. We sought to identify the diagnostic utility of positron emission tomography/computed tomography (PET/CT) in identifying WDLPS versus DDLPS. An independent radiologist reviewed PET/CT images to identify target lesions and determine the maximum standardized uptake value (SUVmax)....
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Background. Globally, approximately 20% of malignancy are caused by infection. Schistosoma infection is a major cause of bladder in most part of Africa. In 2018 alone, there were approximately 549,393 new cases and 199,922 deaths from bladder cancer. The presence of Schistosoma ova in the venous plexus of the bladder induces a cascade of inflammation causing significant tissue damage and granulomatous changes. Methodology. A literature review was conducted from 1995 to 2019 using PubMed, Google Scholar,...
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Maternal mortality rate (MMR) is one of the main worldwide public health challenges. Presently, the high levels of MMR are a common problem in the world public health and especially, in developing countries. Half of these maternal deaths occur in Sub-Saharan Africa where little or nothing progress has been made. South Sudan is one of the developing countries which has the highest MMR. Thus, this paper deploys statistical analysis to identify the significant physiological causes of MMR in South Sudan....
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The war to technology and economic powers has been the driver for industrialization in most developed countries. The first industrial revolution (industry 1.0) earned millions for textile mill owners, while the second industrial revolution (industry 2.0) opened the way for tycoons and captains of industry such as Henry Ford, John D. Rockefeller, and J.P. Morgan. The third industrial revolution (industry 3.0) engendered technology giants such as Apple and Microsoft and made magnates of men such as...
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Iron deficiency anemia is common in children with end-stage renal disease (ESRD) on long-term hemodialysis receiving erythropoiesis-stimulating agents. One approach to maintain the iron profile and hemoglobin levels is maintenance therapy with regular low doses of intravenous (IV) iron after initial iron repletion therapy; however, evidence for the benefits of this approach is lacking. This study evaluated the effect of IV iron maintenance therapy on anemia in children on regular hemodialysis. This...
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Introduction. Efficient recruitment of first responders (FRs) is crucial for long-term success of any FR project. FRs are laypersons who are trained in cardiopulmonary resuscitation (CPR), medical professionals, and firemen, police officers, and other professions with a duty of help. As social media are widely used for rapid communication, we carried out a prospective observational study to test the hypothesis that recruitment of FRs via social media is more efficient than recruitment via direct...
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Based on the mean-variance criterion, this paper investigates the continuous-time reinsurance and investment problem. The insurer’s surplus process is assumed to follow Cramér–Lundberg model. The insurer is allowed to purchase reinsurance for reducing claim risk. The reinsurance pattern that the insurer adopts is combining proportional and excess of loss reinsurance. In addition, the insurer can invest in financial market to increase his wealth. The financial market consists of one risk-free asset...
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Circular RNAs (circRNAs) are formed by joining the 3 and 5 ends of RNA molecules. Identification of circRNAs is an important part of circRNA research. The circRNA prediction methods can predict the circRNAs with start and end positions in the chromosome but cannot identify the full-length circRNA sequences. We present an R package FcircSEC (Full Length circRNA Sequence Extraction and Classification) to extract the full-length circRNA sequences based on gene annotation and the output of any circRNA...
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Background. The airway of an anesthetized child is usually maintained with an endotracheal tube or laryngeal mask airway. However, both are related with some level of pressor response which may be risky in several groups of patient. Methods. An institutional-based prospective observational study design was employed. A systematic random sampling technique was used to select study participants. Data were entered into Epi info version 7 and transported to SPSS version 20 for analysis. Normality of the...
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Objectives. Spontaneous arm use in patients with poststroke hemiparesis is crucial to the recovery of functional interaction. Patients with stroke and subsequent right hemiparesis have more difficulty adapting to a right-handed environment. The aim of this study was to use wearable devices to assess the asymmetry and difference in the amount of activity of the nondominant and dominant affected hands among patients with stroke and right hemiparesis. The real activity of both hands was measured to...
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Medical laboratory science students (MLSS), likewise health care workers (HCW), invariably get exposed to blood and body fluids (BBF) of patients. The degree of exposure of these students is even worsened due to their inexperience, which is usually revealed during their vocational training programme. This study therefore determined the prevalence of exposure to BBF and its risk factors among MLSS at the University of Health and Allied Sciences (UHAS). A cross-sectional survey was employed using simple...
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Nonrhabdomyosarcoma soft-tissue sarcomas (STSs) are a class of 50+ cancers arising in muscle and soft tissues of children, adolescents, and adults. Rarity of each subtype often precludes subtype-specific preclinical research, leaving many STS patients with limited treatment options should frontline therapy be insufficient. When clinical options are exhausted, personalized therapy assignment approaches may help direct patient care. Here, we report the results of an adult female STS patient with relapsed...
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Background. The general coverage of vaccination means the percentage of children in world who received the recommended vaccines and has existed over the past few years continued the same. Aim. The aim of this study was to determine the factors associated with complete immunization coverage among children aged 11-24 months in Somalia. Method. This was a descriptive cross-sectional study conducted in Galkayo hospital in Mudug region Somalia. Systematic random sampling was carried out in to recruit...
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Publication date: Available online 1 June 2020Source: BiochimieAuthor(s): Merve Erkisa, Seyma Aydinlik, Buse Cevatemre, Nazlihan Aztopal, Remzi Okan Akar, Serap Celikler, Veysel Turan Yilmaz, Ferda Ari, Engin Ulukaya
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Publication date: Available online 31 May 2020Source: Free Radical Biology and MedicineAuthor(s): Qingling Yang, Luping Cong, Yujiao Wang, Xiaoyan Luo, Hui Li, Huan Wang, Jing Zhu, Shanjun Dai, Haixia Jin, Guidong Yao, Senlin Shi, Aaron J. Hsueh, Yingpu Sun
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The MSK expert discussed the need for targeted testing for the Ashkenazi Jewish BRCA mutations in the US healthcare system. (Source: CancerNetwork)
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The most common, expected, and reversible treatment-emergent adverse event associated with the agent was cytokine release syndrome. (Source: CancerNetwork)
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Covid-19 has given us a glimpse of a world in which ways of life can be radically altered – it can be a turning point in our approach to the climate, if we choose to make it happen
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Gonorrhoea?Ah ha, got you! No, I’m talking about the weekly “clap for our carers” that has seen the public standing on their doorsteps each Thursday for the past 10 weeks, clapping in support of NHS...
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The immunoglobulin E (IgE)-mediated mast cell (MC) response is central to the pathogenesis of type I allergy and asthma. IκB kinase 2 (IKK2) was reported to couple IgE-induced signals to MC degranulation by phosphorylating the SNARE protein SNAP23. We investigated MC responses in mice with MC-specific inactivation of IKK2 or NF-κB essential modulator (NEMO), or animals with MC-specific expression of a mutant, constitutively active IKK2. We show that the IgE-induced late-phase cytokine response is...
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Epidermodysplasia verruciformis (EV) is a rare genodermatosis that predisposes certain individuals to developing cutaneous malignancies caused by infectious agents. Mutations in the transmembrane channel gene TMC6 or TMC8 create patient susceptibility to infections by human papillomavirus (HPV) and the development of EV-typical plane warts. Mainly in the UV-exposed regions, affected individuals have a lifelong increased risk for the development of cutaneous malignancy, especially squamous cell carcinoma...
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Autosomal dominant adermatoglyphia (ADG) is characterized by lack of palmoplantar epidermal ridges. Recently, ADG was found to be caused in one family by a mutation in SMARCAD1, a member of the SNF subfamily of the helicase protein superfamily.; To investigate the genetic basis of ADG.; We used direct sequencing and global gene expression analysis.; We identified three novel heterozygous mutations in SMARCAD1 (c.378 + 2T > C, c.378 + 5G > C and c.378 + 1G > A) in a total of six patients....
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Medullary thymic epithelial cells (mTECs) are critical in establishing and maintaining the appropriate microenvironment for negative selection and maturation of immunocompetent T cells with a self-tolerant T cell antigen receptor repertoire. Cues that direct proliferation and maturation of mTECs are provided by members of the tumor necrosis factor (TNF) superfamily expressed on developing thymocytes. Here we demonstrate a negative role of the morphogen TGF-beta in tempering these signals under physiological...
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The CXCR4 receptor is a major regulator of hematopoietic cell migration. Overexpression of CXCR4 has been associated with poor prognosis in acute myelogenous leukemia (AML). We have previously shown that ligand-mediated phosphorylation of the Serine339 (CXCR4-S339) residue of the intracellular domain by PIM1 is implicated in surface re-expression of this receptor. Here, we report that phosphorylation of CXCR4-S339 in bone marrow (BM) biopsies correlated with poor prognosis in a cohort of AML patients....
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Overexpression of the CXCR4 receptor is a hallmark of chronic lymphocytic leukemia (CLL) and is important for CLL cell survival, migration, and interaction with their protective microenvironment. In acute myelogenous leukemia (AML), PIM1 was shown to regulate the surface expression of the CXCR4 receptor. Here, we show that PIM (proviral integration site for Moloney murine leukemia virus) kinases 1-3 are overexpressed and that the CXCR4 receptor is hyperphosphorylated on Ser339 in CLL compared with...
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The NUP98-NSD1 fusion, product of the t(5;11)(q35;p15.5) chromosomal translocation, is one of the most prevalent genetic alterations in cytogenetically normal pediatric acute myeloid leukemias and is associated with poor prognosis. Co-existence of an FLT3-ITD activating mutation has been found in more than 70% of NUP98-NSD1-positive patients. To address functional synergism, we determined the transforming potential of retrovirally expressed NUP98-NSD1 and FLT3-ITD in the mouse. Expression of NUP98-NSD1...
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Cancers, Vol. 12, Pages 1441: A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer Cancers doi: 10.3390/cancers12061441 Authors: Aayushi Srivastava Beiping Miao Diamanto Skopelitou Varun Kumar Abhishek Kumar Nagarajan Paramasivam Elena Bonora Kari Hemminki Asta Försti Obul Reddy Bandapalli Non-medullary thyroid cancer (NMTC) is a common endocrine malignancy with a genetic basis that has yet to be unequivocally...
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Cancers, Vol. 12, Pages 1440: Metabolic Profiling of Early and Late Recurrent Pancreatic Ductal Adenocarcinoma Using Patient-Derived Organoid Cultures Cancers doi: 10.3390/cancers12061440 Authors: Lukas M. Braun Simon Lagies Rhena F. U. Klar Saskia Hussung Ralph M. Fritsch Bernd Kammerer Uwe A. Wittel Pancreatic ductal adenocarcinoma (PDAC) is associated with high mortality and will become the second most common cause of cancer-associated mortality by 2030....
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Aim. In this paper, we aimed to develop and validate a risk prediction method using independent prognosis genes selected robustly in prostate cancer. Method. We considered 723 samples obtained from TCGA (the Cancer Genome Atlas), GSE46602, and GSE21032. Prostate cancer prognosis-related genes with were selected using Univariable Cox regression analysis. We then built the lowest AIC (Akaike information criterion score) optimal gene model using the “Rbsurv” package in TCGA train set. The coefficients...
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As a medical student, I found it surprisingly comfortable, because my “patient” was also my very patient instructor -- Read more on ScientificAmerican.com
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The HLA-B*27:05 allele and the endoplasmic reticulum-resident aminopeptidases are strongly associated with AS, a chronic inflammatory spondyloarthropathy. This study examined the effect of ERAP2 in the generation of the natural HLA-B*27:05 ligandome in live cells. Complexes of HLA-B*27:05-bound peptide pools were isolated from human ERAP2-edited cell clones, and the peptides were identified using high-throughput mass spectrometry analyses. The relative abundance of a thousand ligands was established...
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Quantitative proteomics by mass spectrometry is widely used in biomarker research and basic biology research for investigation of phenotype level cellular events. Despite the wide application, the methodology for statistical analysis of differentially expressed proteins has not been unified. Various methods such as t test, linear model and mixed effect models are used to define changes in proteomics experiments. However, none of these methods consider the specific structure of MS-data. Choices between...
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Protein microarrays are crucial tools in the study of proteins in an unbiased, high-throughput manner, as they allow for characterization of up to thousands of individually purified proteins in parallel. The adaptability of this technology has enabled its use in a wide variety of applications, including the study of proteome-wide molecular interactions, analysis of post-translational modifications, identification of novel drug targets, and examination of pathogen-host interactions. In addition, the...
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Accumulation and propagation of hyperphosphorylated Tau (p-Tau) is a common neuropathological hallmark associated with neurodegeneration of Alzheimer's disease (AD), frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), and related tauopathies. Extracellular vesicles, specifically exosomes, have recently been demonstrated to participate in mediating Tau propagation in brain. Exosomes produced by human induced pluripotent stem cell (iPSC)-derived neurons expressing mutant Tau...
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Drug resistance is a major obstacle to curative cancer therapies, and increased understanding of the molecular events contributing to resistance would enable better prediction of therapy response, as well as contribute to new targets for combination therapy. Here we have analyzed the early molecular response to epidermal growth factor receptor (EGFR) inhibition using RNA sequencing data covering 13,486 genes and mass spectrometry data covering 10,138 proteins. This analysis revealed a massive response...
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