Miracle-dz/UniFAR-FTUs huggingface dataset:
Hereditary breast cancer in South-Eastern Norway BRCA1/2- testing of breast cancer patients. Mutation spectrum and potential modifiers in Norwegian BRCA1/2 carriers

Background: Identification of BRCA mutations in breast cancer (BC) patients influences treatment and survival and may be of importance for their relatives. Testing is often restricted to women fulfilling high-risk criteria. However, there is limited knowledge of the sensitivity of such a strategy, and of the clinical aspects of BC caused by BRCA mutations in less selected BC cohorts. The aim of this report was to address these issues by evaluating the results of BRCA testing of BC patients in South-Eastern Norway. Methods: 1371 newly diagnosed BC patients were tested with sequencing and Multi Ligation Probe Amplification (MLPA). Prevalence of mutations was calculated, and BC characteristics among carriers and non-carriers compared. Sensitivity and specificity of common guidelines for BRCA testing to identify carriers was analyzed. Number of identified female mutation positive relatives was evaluated. Results: A pathogenic BRCA mutation was identified in 3.1%. Carriers differed from non-carriers in terms of age at diagnosis, family history, grade, ER/PR-status, triple negativity (TNBC) and Ki67, but not in HER2 and TNM status. One mutation positive female relative was identified per mutation positive BC patient. Using age of onset below 40 or TNBC as criteria for testing identified 32-34% of carriers. Common guidelines for testing identified 45-90%, and testing all below 60 years identified 90%. Thirty-seven percent of carriers had a family history of cancer that would have qualified for predictive BRCA testing. A Variant of Uncertain Significance (VUS) was identified in 4.9%. Conclusions: Mutation positive BC patients differed as a group from mutation negative. However, the commonly used guidelines for testing were insufficient to detect all mutation carriers in the BC cohort. Thirty-seven percent had a family history of cancer that would have qualified for predictive testing before they were diagnosed with BC. Based on our combined observations, we suggest it is time to discuss whether all BC patients should be offered BRCA testing, both to optimize treatment and improve survival for these women, but also to enable identification of healthy mutation carriers within their families. Health services need to be aware of referral possibility for healthy women with cancer in their family.
Genetic risk of Parkinson disease and progression:

Objective To determine if any association between previously identified alleles that confer risk for Parkinson disease and variables measuring disease progression. Methods We evaluated the association between 31 risk variants and variables measuring disease progression. A total of 23,423 visits by 4,307 patients of European ancestry from 13 longitudinal cohorts in Europe, North America, and Australia were analyzed. Results We confirmed the importance of GBA on phenotypes. GBA variants were associated with the development of daytime sleepiness (p.N370S: hazard ratio [HR] 3.28 [1.69–6.34]) and possible REM sleep behavior (p.T408M: odds ratio 6.48 [2.04–20.60]). We also replicated previously reported associations of GBA variants with motor/cognitive declines. The other genotype-phenotype associations include an intergenic variant near LRRK2 and the faster development of motor symptom (Hoehn and Yahr scale 3.0 HR 1.33 [1.16–1.52] for the C allele of rs76904798) and an intronic variant in PMVK and the development of wearing-off effects (HR 1.66 [1.19–2.31] for the C allele of rs114138760). Age at onset was associated with TMEM175 variant p.M393T (−0.72 [−1.21 to −0.23] in years), the C allele of rs199347 (intronic region of GPNMB, 0.70 [0.27–1.14]), and G allele of rs1106180 (intronic region of CCDC62, 0.62 [0.21–1.03]). Conclusions This study provides evidence that alleles associated with Parkinson disease risk, in particular GBA variants, also contribute to the heterogeneity of multiple motor and nonmotor aspects. Accounting for genetic variability will be a useful factor in understanding disease course and in minimizing heterogeneity in clinical trials.
Prevalence of Malocclusion and Orthodontic Treatment Needs Among 12 and 15 Years Old Rural School Children in Kancheepuram District, Tamilnadu

O ral health is an integral part of overall health. Oral cavity plays a vital role in the life of human beings through functions like mastication, aesthetics, phonetics, communication and emotional expressions etc. It is highly essential to safe guard oral health of all the children from childhood because healthy individuals are the most precious assets any country can have (1). Oral health care in rural areas is limited due to shortage of dental manpower, financial constraints and the lack of perceived need for dental care among rural masses (2). There is no definite picture as yet regarding the prevalence of malocclusion in the rural areas of our country, where 72.2 % of the population live. It is important that steps had to be taken to curb thistrend, because this may lead to crippling consequences on the functional component of the oral cavity.
Dexmedetomidine as an adjunct to anaesthetic induction to attenuate haemodynamic responses to Endotracheal Intubation

Introduction: The hemodynamic responses to endotracheal intubation (EI) may impose myocardial ischemia, infarction (MI); arrhythmias or precipitate cardiac failure. Dexmedetomidine, which is a D-isomer of medetomidine is more specific for alpha 2 adrenergic receptor and shorter acting than clonidine. As studies to explore the property of dexmedetomodine for attenuation of haemodynamic responses to EI are only few, this study was an attempt to assess the efficacy and safety of dexmedetomidine for the same. Aim and Objectives: To assess the efficacy of a single preoperative dose of intravenous dexmedetomidine in attenuating the haemodynamic responses to EI. Materials and Method: The study design was prospective, interventional randomised placebo controlled clinical trial. Each and every patient who fulfilled the eligibility criteria was randomly assigned to one of the two groups, Group C (Control) or Group D (Dexmedetomidine), using a computer generated random number table. Participants of group C received 20 ml of normal saline over 15 minutes and of group D received dexmedetomidine 0. 5µg/kg diluted in normal saline to make 20 ml over 15 minutes through a syringe pump. Results: There was statistically significant rise in the mean heart rate in Group C‚ during EI from 82.82 ± 13.37 to 115.86 ± 13.12 (p
Diffusion tensor imaging of human skeletal muscle : from simulation to clinical implementation

Diffusion tensor imaging (DTI) is a specialized MRI technique that is particularly suited to study muscle structure. Diffusion imaging provides quantitative information on muscle geometry, which is the main mechanical determinant of muscle performance, and on the local histopathological status of muscles to monitor disease progression or the effect of physical exercise or a pharmacological intervention. Diffusion MRI, like all other MRI techniques, is a noninvasive technology that provides a full three dimensional overview of the tissue of interest. It exploits the property that the apparent diffusivity of water is greatest along the dominant muscle fiber direction. In each imaging voxel a diffusion tensor is reconstructed from a series of diffusion-weighted MR images along at least 6 independent diffusion encoding directions. An eigenvalue analysis yields the principal axis of diffusion, which parallels the local muscle fiber orientation. Principal diffusion directions of neighboring voxels are combined for three-dimensional muscle fiber tractography. Most of the information gained by diffusion MRI is unique – in the sense that no alternative procedures exist that deliver similar insights. Diffusion tensor imaging (DTI) and fiber tractography of skeletal muscle is challenging for a number of reasons. First the short T2 relaxation times of muscles result in low SNR, which limits the resolution. Also the EPI readout leads to susceptibility-induced deformations in the images. Furthermore eddy currents and macroscopic motion can lead to a shift of the diffusion weighted volumes with respect to the non-weighted volume. The principal aim of the research described in the thesis was to optimize and standardize DTI data acquisition and processing and explore clinical application of the technique. For this purpose a custom built toolbox for Wolfram Mathematica 8 was developed, containing over 125 functions for simulating, processing, enhancing and analyzing DTI data. To investigate the clinical application of DTI a standardized protocol for acquiring and processing data was developed and tested to measure on various parts of the human body. Five studies were performed. The first study aimed to gain a better understanding of the influence of the sequence parameters, tensor-fitting algorithms, and post processing on image quality and SNR using a combination of simulations and experimentally acquired data. In the second study, reproducibility of the diffusion parameters was assessed. The third study focused on fiber tractography to visualize muscle architecture. In the fourth study DTI was applied to study delayed onset muscle soreness. In the final experimental study, the clinical feasibility of DTI in studies of the female pelvic floor was investigated.
Effect of Nursing Intervention Program on Patients knowledge and practice regarding Breathlessness in patients with Chronic Obstructive Pulmonary Disease

Background: Breathlessness, along with the associated inability to engage in normal activity, is one of the most distressing symptoms for patients with chronic obstructive pulmonary disease (COPD). Aim of study: The aim of this study was to evaluate the effect of nursing intervention program on patient knowledge and practice regarding breathlessness in patients with chronic obstructive pulmonary disease. Subjects and Methods: Research design: A quasi experimental research design was used. Setting: The study was conducted in chest department at Aswan University Hospitals. Subjects: Convenient sample of40 adult patients with COPD were recruited for the purpose of the study. Tools of data collection: Questionnaire form about Patient Knowledge, Patients' Practices Observational Checklists, Modified Borg Scale (MBS), Hospital Anxiety and Depression Scale (HADS) and Rotterdam Symptoms Checklist were used to collect data. Results: All of the studied patients had unsatisfactory knowledge and practices regarding COPD and breathlessness before nursing intervention program, which improved after program intervention with highly significant differences. Also, the breathlessness, anxiety and depression and dimensions of Rotterdam symptoms checklist improved significantly in patients with COPD who received nursing intervention program. Conclusion: Implementation of nursing intervention program had statistically significant improvement in patients' level of knowledge, practices, dyspnea, anxiety, depression level and dimensions of Rotterdam symptoms checklist. Recommendations: Conducting comprehensive health education programs for patients with COPD in outpatients' clinics with simplified printed guidelines through leaflets or brochures explaining how to prevent and control breathlessness and further evaluation of the effect of strategies to prevent and ameliorate breathlessness intensity and distress responses in larger sample of COPD patients in order to generalize the results.
Genetic and Molecular Typing of Canine Parvovirus Strains Circulating in Symptomatic Dogs in Egypt

Canine parvovirus (CPV) is considered one of the serious and problematic diseases in young puppies. It causes hemorrhagic enteritis and myocarditis in affected dogs. The aim of the present study was to detect CPV-2 in feces of clinically diseased puppies by polymerase chain reaction (PCR) followed by VP2 gene partial sequencing and molecular characterization of circulating strains in Egypt as well as studying some factors associated with the disease incidence. Forty fecal samples were collected from clinically suspected dogs with CPV-2. The clinical diagnosis was confirmed in 35 suspected clinical cases (87.5%) by PCR using common and specific primers sets for detection of (CPV-2, CPV-2a, CPV-2b, CPV-2c) validating that presumptive clinical diagnosis is practically dependable. Nucleotide sequencing of parvovirus (CPV-2) isolates showed that all the three antigenic types (2a, 2b, and 2c) are currently circulating in Egypt.
Assessment of hearing among mobile phone users

Background: With the advent of new smart phones every day, health hazard related to it is also increasing. The usage of mobile phones has become a domineering activity of the students. Such usage have been documented to cause many health hazards like hearing loss, the mobile phone electromagnetic radiation has other potential risks like vehicular accidents, headache, and sleep disturbances, thermal effects and alteration of blood brain barrier. The objective of the study was to assess the hearing loss with pure tone audiometry due to chronic mobile phone usage among medical college students in a tertiary care hospital.Methods: This was a cross sectional study conducted among the medical students from June 2018 to December 2018, with the sample size of 129. The participants were interviewed using pretested, validated questionnaire followed the participants were subjected to pure tone audiometry. Results: Among the 129 participants, the majority of the study participants (58.1%) were females. The median age of the participants was 20 and almost 42.7% of the participants used in ear media while using the phone. 10.9% and 19.4% showed symptoms of tinnitus and hard of hearing respectively. On testing the participants with pure tone audiometry, around 9.3% had mild hearing loss and 3.9% had moderate hearing loss.Conclusions: The health hazard caused by the mobile phone usage may not be evident for many years. The students are exposed to smart phones frequently and hence periodic screening and health education regarding the harm of using mobile phones for longer duration should be made imperative.
Technological Pedagogical and Content Knowledge: A Review of Empirical Studies Published From 2011 to 2016

Technological Pedagogical and Content Knowledge (TPACK) has been introduced as a conceptual framework for the knowledge domains teachers need to master to teach successfully using technology, and has drawn much attention across the educational field. Yet, the framework has been criticized for not being practically useful, due to inaccurate and insufficient definitions. To better understand the critics and the usefulness of the framework, an investigation of how the framework has been applied to show teacher TPACK is needed. This study is a systematic literature review of 107 peer-reviewed journal articles concerning the use of TPACK in empirical studies published from 2011 to 2016. The study supplements previous review studies with more recent work on general characteristics of TPACK studies as well as contributes an analysis of how the framework has been applied to identify teacher TPACK in recent literature. Findings show a variety of approaches and instruments to examine teacher TPACK. Most common is to identify teacher TPACK via self-reporting, while performance evaluations of teaching activities are rare. Additionally, the ways TPACK is operationalized as a measuring instrument are often implicit and make comparison of results difficult. Future directions for research are discussed.
Quality of life in obese women with symptoms of urinary incontinence

Abstract Introduction: Obesity is a contributing factor to the development of urinary incontinence (UI). Objective: The objective of this study was to evaluate the prevalence of UI symptoms in women with morbid obesity and their impacts on quality of life (QOL), correlating the influence of age and body mass index (BMI) with the presence of UI. Method: Sixty-five women undergoing preoperative bariatric surgery, aged 35.8 ± 9.97 years, with an average BMI of 45.04 ± 6.79 kg/m2 were asked about the presence of UI symptoms; when they answered positively, the King’s Health Questionnaire (validated into Portuguese) was applied. The questionnaire was self-administered and all answers were assigned numerical scores. These scores were distributed according to quartiles and correlated with age and BMI. The level of hypothesis rejection was 5%, and analyses were performed using BioEstat software version 5.3. Results: Among 65 interviewees, 19 (29.23%) had symptoms of UI and went on to answer the questionnaire. The highest-scoring areas were “incontinence impact” (36.8) and “general health perception” (32.9). There was no significant correlation between questionnaire scores and BMI. In the association with age, the “incontinence impact” domain showed a significant, positive and moderate correlation (r = 0.52; p = 0.02). Conclusion: The prevalence of UI symptoms in the sample had a slight negative effect on QOL; however, UI associated with older ages significantly affected the QOL of the studied volunteers.
Prevalence of Pneumonia in Sheep and Goats Slaughtered at Elfora Bishoftu Export Abattoir, Ethiopia: A Pathological Investigation

Accurate clinical diagnosis of pneumonia, the leading cause of mortality in small ruminants, is difficult and usually requires postmortem examination of the lungs. An active abattoir survey was conducted between November 2017 and April 2018 to estimate the prevalence and characterize the gross and histopathological lesions of pneumonic lungs in 864 clinically healthy young small ruminants (490 sheep and 374 goats aged 1.5 to 3 years) raised for meat in different parts of the country and slaughtered at Elfora Bishoftu export abattoir, Ethiopia. Out of the total lungs examined grossly, pneumonic lesions were found in 158 (18.29%) lungs. On histopathological examination of the lungs with gross pneumonic lesion, however, typical pneumonic lesions were diagnosed in 148 (17.13%) lungs only. No significant (p>0.05) difference was noted in the prevalence of pneumonia between sheep (17.14%) and goats (17.11%) in histopathological examination. Based on the predominant histopathological findings, the pneumonic lesions were characterized as interstitial pneumonia (41.9%), acute suppurative bronchopneumonia (25.7%), acute fibrinous bronchopneumonia (24.3%), chronic bronchopneumonia (6.1%), aspiration pneumonia (4.7%), bronchointerstitial pneumonia (3.4%), and ovine pulmonary adenomatosis (3.4%). The study further showed the spread of ovine pulmonary adenomatosis and ovine progressive pneumonia (Maedi) from the central highlands to areas that were previously free from these diseases. Due to its better diagnostic capacity, histopathology should be employed routinely as an ancillary test in the major abattoirs and regional veterinary laboratories to generate additional epidemiological data for a better disease control and prevention measures. Further studies are also recommended to identify the etiological agents of pneumonia in sheep and goats and thereby to formulate feasible and cost-effective interventions.
Discovery of core genes in colorectal cancer by weighted gene co-expression network analysis

The aim of the present study was to investigate the interactions among messenger RNAs (mRNAs), microRNAs (miRNAs), and long noncoding RNAs (lncRNAs) in colorectal cancer (CRC), in order to examine its underlying mechanisms. The raw gene expression data was downloaded from the Gene Expression Omnibus (GEO) database. An online tool, GEO2R, which is based on the limma package, was used to identify differentially expressed genes. The co-expression between lncRNAs and mRNAs was identified utilizing the weighted gene co-expression analysis package of R to construct a coding non-coding (CNC) network. The function of the genes in the CNC network was determined by performing Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathways enrichment analysis. The interactions among miRNAs, mRNAs and lncRNAs were predicted using Lncbase and mirWalk to construct the competing endogenous RNA (ceRNA) network. The expression of the genes involved in the ceRNA network was further validated in The Cancer Genome Atlas dataset. A total of 3,183 dysregulated mRNAs, 78 dysregulated miRNAs and 2,248 dysregulated lncRNAs were screened in two GEO datasets. Combined with the results of the dysregulated genes, 169 genes were selected to construct the CNC network. ‘p53 signaling pathway’ and the ‘cell cycle’ were the most significant enriched pathways in the genes involved in the CNC network. Finally, a validated ceRNA network composed of 2 lncRNAs (MIR22HG and RP11-61I13.3), 5 miRNAs (hsa-miR-765, hsa-miR-198, hsa-miR-125a-3p, hsa-miR-149-3p and hsa-miR-650) and 5 mRNAs (ANK2, BTK, GBP2, PCSK5 and PDK4) was obtained. In conclusion, MIR22HG may regulate PCSK5, BTK and PDK4, and RP11-61I13.3 may regulate the ANK2, GBP2, PCSK5 through sponging miRNAs to act on the progression of CRC, and the potential function of these genes have been revealed. However, the diagnostic and prognostic value of these genes requires further validation.
Association of MMP-2-753C>T and MMP-9-1562C>T Polymorphisms with Chronic/Aggressive Periodontitis Risk: A Systematic Review and Meta-Analysis

Background: Two functional polymorphisms in the matrix metalloproteinase-2 and -9 (MMP-2 and MMP-9) genes may contribute to periodontitis pathogenesis. However, the results were inconsistent and inconclusive. Therefore, to clarify precise associations of MMP-2-753 C>T and MMP-9-1562C>T polymorphisms with chronic (CP) and aggressive (AgP) periodontitis, we performed a systematic review and meta-analysis. Methods: A literature search was conducted using PubMed, Google Scholar, Embase, and Web of Science databases until 5 July 2017. The data were analyzed with CMA software, and risk estimates are expressed as odds ratios (ORs) and 95% confidence intervals (95% CIs). Results: Nineteen case-control studies in ten publications with 2089 periodontitis cases and 2345 controls met the criteria. The pooled ORs indicated that MMP-2-753C>T and MMP-9-1562C>T polymorphisms were not significantly associated with risk of periodontitis in overall analysis. Stratified analyses by ethnicity and periodontitis type indicated that the MMP-9-1562C>T polymorphism showed a significant association with the risk of periodontitis among Caucasians and CP/AgP subgroup, whereas MMP-2-753C>T polymorphism was significantly associated with periodontitis risk only among Asians. Conclusion: MMP-2-753C>T and MMP-9-1562C>T polymorphisms may not be associated with risk of periodontitis in overall population. However, MMP-2-753C>T and MMP-9-1562C>T polymorphisms might have influence on the susceptibility of periodontitis by ethnicity.