Frequency of <i>KLK3 </i>gene deletions in the general population

Background One of the kallikrein genes ( KLK3) encodes prostate-specific antigen, a key biomarker for prostate cancer. A number of factors, both genetic and non-genetic, determine variation of serum prostate-specific antigen concentrations in the population. We have recently found three KLK3 deletions in individuals with very low prostate-specific antigen concentrations, suggesting a link between abnormally reduced KLK3 expression and deletions of KLK3. Here, we aim to determine the frequency of kallikrein gene 3 deletions in the general population. Methods The frequency of KLK3 deletions in the general population was estimated from the 1958 Birth Cohort sample ( n = 3815) using amplification ratiometry control system. In silico analyses using PennCNV were carried out in the same cohort and in NBS-WTCCC2 in order to provide an independent estimation of the frequency of KLK3 deletions in the general population. Results Amplification ratiometry control system results from the 1958 cohort indicated a frequency of KLK3 deletions of 0.81% (3.98% following a less stringent calling criterion). From in silico analyses, we found that potential deletions harbouring the KLK3 gene occurred at rates of 2.13% (1958 Cohort, n = 2867) and 0.99% (NBS-WTCCC2, n = 2737), respectively. These results are in good agreement with our in vitro experiments. All deletions found were in heterozygosis. Conclusions We conclude that a number of individuals from the general population present KLK3 deletions in heterozygosis. Further studies are required in order to know if interpretation of low serum prostate-specific antigen concentrations in individuals with KLK3 deletions may offer false-negative assurances with consequences for prostate cancer screening, diagnosis and monitoring. </jats:sec

Does dental students' attendance in classroom lectures depend on the mode of attendance tracking?

Purpose: The necessity to attend classroom lectures is a disputable topic among dental schools globally. Since there is an ongoing debate on different aspects of this problem in literature, the purpose of this study was to compare students’ attitudes toward classroom attendance and investigate if stricter attendance tracking methods could lead to better classroom attendance at two dental schools utilising different modes of tracking students’ attendance. Method: This was an observational, cross-sectional survey distributed among dental students enrolled at King Abdul-Aziz University (KAU) and King Saud University (KSU) in Saudi Arabia. The survey included questions on demographics, average travel time, student's attitudes toward classroom lectures and common reasons for absenteeism. Collected data were analysed and summarised as frequencies and percentages and then compared using the Chi-square test for statistical significance. Findings: The study involved 678 participants from KAU and 475 participants from KSU. In general, there was a significant difference in students’ attendance between both schools in which 26.8% of KAU dental students skipped 5 or more lectures/month compared to 11.5% of students at KSU. Among the factors affecting classroom lecture attendance, commuting time was a major one reported by students (44.8% of students at KSU and 51.4% at KAU needed 30-60 min to reach their schools). The availability of lectures through online resources and the necessity to study for exams were additional factors reported by students of both schools. Implications for research and practices: Based on the current data, the school’s method to track students’ attendance may have a role in the pattern of classroom absenteeism

Sickle cell disease and systematic lupus erythematous association in a 14-year-old adolescent female

SCD develops when haemoglobin (HbS) is produced in the body as a result of a mutation occurring in haemoglobin beta chain. SLE is defined as a rare, chronic autoimmune multi-organ manifestation. SCD and SLE rarely coincide in literature due to the limited number of cases and the overlapping of symptoms of both diseases. Majority affecting child bearing age, with a mean of 23-year-old. Articular manifestations like joint pain are common in both diseases. We report a case of female adolescent with sickle cell disease associated with systemic lupus erythematous

Association of mutation and expression of the brother of the regulator of imprinted sites (BORIS) gene with breast cancer progression

INTRODUCTION: The BORIS, 11 zinc-finger transcription factors, is a member of the cancer-testis antigen (CTA) family. It is mapped to chromosome number 20q13.2 and this region is genetically linked to the early onset of breast cancer. The current study analyzed the correlation between BORIS mutations and the expression of the protein in breast cancer cases. MATERIALS AND METHODS: A population-based study including a total of 155 breast cancer tissue samples and an equal number of normal adjacent tissues from Indian female breast cancer patients was carried out. Mutations of the BORIS gene were detected by polymerase chain reaction-single standard confirmation polymorphisms (PCR-SSCP) and automated DNA sequencing and by immunohistochemistry for BORIS protein expression were performed. The observed findings were correlated with several clinicopathological parameters to find out the clinical relevance of associations. RESULTS: Of all the cases 16.12% (25/155) showed mutations in the BORIS gene. The observed mutations present on codon 329 are missense, leading to Val\u3e Ile (G\u3eA) change on exon 5 of the BORIS gene. A significant association was observed between mutations of the BORIS gene and some clinicopathological features like nodal status (p = 0.013), estrogen receptor (ER) expression (p = 0.008), progesterone receptor (PR) expression (p = 0.039), clinical stage (p = 0.010) and menopausal status (p = 0.023). The protein expression analysis showed 20.64% (32/155) samples showing low or no expression (+), 34.19% (53/155) with moderate expression (++), and 45.17% (70/155) showing high expression (+++) of BORIS protein. A significant association was observed between the expression of BORIS protein and clinicopathological features like clinical stage (p = 0.013), nodal status (p = 0.049), ER expression (p = 0.039), and PR expression (p = 0.027). When mutation and protein expression were correlated in combination with clinicopathological parameters a significant association was observed in the category of high (+++) level of BORIS protein expression (p = 0.017). CONCLUSION: The BORIS mutations and high protein expression occur frequently in carcinoma of the breast suggesting their association with the onset and progression of breast carcinoma. Further, the BORIS has the potential to be used as a biomarker

Forecasting wind power based on an improved al-Biruni Earth radius metaheuristic optimization algorithm

Wind power forecasting is pivotal in optimizing renewable energy generation and grid stability. This paper presents a groundbreaking optimization algorithm to enhance wind power forecasting through an improved al-Biruni Earth radius (BER) metaheuristic optimization algorithm. The BER algorithm, based on stochastic fractal search (SFS) principles, has been refined and optimized to achieve superior accuracy in wind power prediction. The proposed algorithm is denoted by BERSFS and is used in an ensemble model’s feature selection and optimization to boost prediction accuracy. In the experiments, the first scenario covers the proposed binary BERSFS algorithm’s feature selection capabilities for the dataset under test, while the second scenario demonstrates the algorithm’s regression capabilities. The BERSFS algorithm is investigated and compared to state-of-the-art algorithms of BER, SFS, particle swarm optimization, gray wolf optimizer, and whale optimization algorithm. The proposed optimizing ensemble BERSFS-based model is also compared to the basic models of long short-term memory, bidirectional long short-term memory, gated recurrent unit, and the k-nearest neighbor ensemble model. The statistical investigation utilized Wilcoxon’s rank-sum and analysis of variance tests to investigate the robustness of the created BERSFS-based model. The achieved results and analysis confirm the effectiveness and superiority of the proposed approach in wind power forecasting

Genome-Wide Analysis of the Emerging Infection with Mycobacterium avium Subspecies paratuberculosis in the Arabian Camels (Camelus dromedarius)

Mycobacterium avium subspecies paratuberculosis (M. ap) is the causative agent of paratuberculosis or Johne's disease (JD) in herbivores with potential involvement in cases of Crohn's disease in humans. JD is spread worldwide and is economically important for both beef and dairy industries. Generally, pathogenic ovine strains (M. ap-S) are mainly found in sheep while bovine strains (M. ap-C) infect other ruminants (e.g. cattle, goat, deer), as well as sheep. In an effort to characterize this emerging infection in dromedary/Arabian camels, we successfully cultured M. ap from several samples collected from infected camels suffering from chronic, intermittent diarrhea suggestive of JD. Gene-based typing of isolates indicated that all isolates belong to sheep lineage of strains of M. ap (M. ap-S), suggesting a putative transmission from infected sheep herds. Screening sheep and goat herds associated with camels identified the circulation of this type in sheep but not goats. The current genome-wide analysis recognizes these camel isolates as a sub-lineage of the sheep strain with a significant number of single nucleotide polymorphisms (SNPs) between sheep and camel isolates (∼1000 SNPs). Such polymorphism could represent geographical differences among isolates or host adaptation of M. ap during camel infection. To our knowledge, this is the first attempt to examine the genomic basis of this emerging infection in camels with implications on the evolution of this important pathogen. The sequenced genomes of M. ap isolates from camels will further assist our efforts to understand JD pathogenesis and the dynamic of disease transmission across animal species

Burnout among surgeons before and during the SARS-CoV-2 pandemic: an international survey

Background: SARS-CoV-2 pandemic has had many significant impacts within the surgical realm, and surgeons have been obligated to reconsider almost every aspect of daily clinical practice. Methods: This is a cross-sectional study reported in compliance with the CHERRIES guidelines and conducted through an online platform from June 14th to July 15th, 2020. The primary outcome was the burden of burnout during the pandemic indicated by the validated Shirom-Melamed Burnout Measure. Results: Nine hundred fifty-four surgeons completed the survey. The median length of practice was 10&nbsp;years; 78.2% included were male with a median age of 37&nbsp;years old, 39.5% were consultants, 68.9% were general surgeons, and 55.7% were affiliated with an academic institution. Overall, there was a significant increase in the mean burnout score during the pandemic; longer years of practice and older age were significantly associated with less burnout. There were significant reductions in the median number of outpatient visits, operated cases, on-call hours, emergency visits, and research work, so, 48.2% of respondents felt that the training resources were insufficient. The majority (81.3%) of respondents reported that their hospitals were included in the management of COVID-19, 66.5% felt their roles had been minimized; 41% were asked to assist in non-surgical medical practices, and 37.6% of respondents were included in COVID-19 management. Conclusions: There was a significant burnout among trainees. Almost all aspects of clinical and research activities were affected with a significant reduction in the volume of research, outpatient clinic visits, surgical procedures, on-call hours, and emergency cases hindering the training. Trial registration: The study was registered on clicaltrials.gov "NCT04433286" on 16/06/2020