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BACKGROUND: Keratoconus (KCN) is a progressive corneal ectasia that manifests at a young age and significantly impacts vision and quality of life. Early diagnosis allows for effective treatment with corneal collagen crosslinking, yet there is a lack of screening methods. This research aims to screen adolescents and young adults for this sight-threatening disease using quick corneal tomography mapping. METHODS: This prospective cross-sectional study is being conducted at Johns Hopkins Aramco Healthcare in Saudi Arabia, focusing on subjects aged 13-23. We are presenting the data from our study as internal pilot study data. Bilateral corneal imaging with Pentacam HR (Oculus, Wetzlar, Germany), utilizing Scheimpflug corneal tomography, was performed. Historical data on allergies, eye rubbing, KCN, family history, previous eye surgery, and contact lens use were collected. The Belin Ambrosio Enhanced Ectasia Display total D value served as an objective criterion for suspect KCN (SKCN) diagnosis. RESULTS: In this study with 110 participants, KCN was identified in 2.75% of participants and SKCN in 11.93%. Systemic allergies or eczema were reported by 2.80%, with no cases in the KCN or SKCN groups. Eye rubbing behavior was observed in 5.50%, with the highest prevalence (33.30%) in the KCN group. A family history of KCN was found in 21.10%, with SKCN having the highest prevalence (30.80%). CONCLUSION: This restricted population study reveals a significant KCN rate of 2.75%. The condition, easily detected and treatable with corneal collagen crosslinking, highlights the need for larger population studies to determine the disease's true prevalence. Efficient screening programs tailored to regional data are essential for early detection and intervention.

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CONTEXT: Diffuse sclerosing papillary thyroid cancer (DSPTC) is rare, with limited data on its molecular genetics. OBJECTIVE: We studied the molecular genetics of a cohort of DSPTC. METHODS: DNA was isolated from paraffin blocks of 22 patients with DSPTC (15 females, 7 males, median age 18 years, range 8-81). We performed polymerase chain reaction-based Sanger sequencing and a next-generation sequencing (NGS) gene panel to characterize the genomic landscape of these tumors. We classified genetic alterations to definitely or probably pathogenic. Definitely pathogenic are genetic alterations that are well known to be associated with PTC (e.g., BRAFV600E). Probably pathogenic are other alterations in genes that were reported in The Cancer Genome Atlas or the poorly differentiated and anaplastic thyroid cancer datasets. RESULTS: Three tumors were tested only by Sanger sequencing and were negative for BRAFV600E, HRAS, KRAS, NRAS, TERT promoter, PTEN, and PIK3CA mutations. The other 19 tumors tested by NGS showed definitely pathogenic alterations in 10 patients (52.6%): 2/19 (10.5%) BRAFV600E, 5/19 (26.3%) CCDC6-RET (RET/PTC1), 1/19 (5.3%) NCOA4-RET (RET/PTC3), 1/19 (5.3%) STRN-ALK fusion, and 2/19 (10.6%) TP53 mutations. Probably pathogenic alterations occurred in 13/19 tumors (68.4%) and included variants in POLE (31.6%), CDKN2A (26%), NF1 (21%), BRCA2 (15.8%), SETD2 (5.3%), ATM (5.3%), FLT3 (5.3%), and ROS1 (5.3%). In 1 patient, the gene panel showed no alterations. No mutations were found in the RAS, PTEN, PIK3CA, or TERT promoter in all patients. There was no clear genotype/phenotype correlation. CONCLUSION: In DSPTC, fusion genes are common, BRAFV600E is rare, and other usual point mutations are absent. Pathogenic and likely pathogenic variants in POLE, NF1, CDKN2A, BRCA2, TP53, SETD2, ATM, FLT3, and ROS1 occur in about two-thirds of DTPTC.

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Cardiovascular disease (CVD) is the leading cause of morbidity and mortality in women. Despite the significant burden of CVD, knowledge and awareness of its risk factors among women are low. This review aimed to identify CVD awareness, knowledge, and risk factors for women of reproductive age from different countries and variables that influence health outcomes. Studies published from 2000 to 2023 were reviewed using PubMed, ScienceDirect, Elsevier, and electronic databases. A total of 50 studies were found, and 41 were excluded. The keywords used were "Knowledge of the risk factor of heart disease," "cardiac risk factors," "cardiovascular disease," "heart disease awareness," and "heart disease," combined with "women" and "reproductive age." The review revealed significant gaps in the general awareness and knowledge of CVD risk factors among women of reproductive age. Many women were unaware of the symptoms and risk factors associated with CVD, leading to delayed diagnosis and poorer outcomes. Lack of education, low socioeconomic status, and limited access to healthcare were identified as contributing factors to this knowledge gap. Young women, particularly those with poor pregnancy outcomes, demonstrated limited awareness and perception of CVD risk. The findings suggest significant gaps in general awareness, knowledge of CVD risk, risk factors among women of reproductive age from different countries, and factors that influence their health outcomes. Targeted interventions are urgently needed to improve awareness and knowledge of CVD among women of reproductive age. Efforts should focus on educating women about CVD risk factors and prevention strategies before symptoms arise. Addressing socioeconomic and educational disparities is crucial to bridging the gap in awareness. By enhancing awareness and knowledge, women can be empowered to take preventive actions and reduce their risk of developing CVD. As a result, we recommend that there are significant opportunities to educate women about CVD risk and prevention before symptoms arise. In addition, there is a need to develop effective interventions to raise awareness among women of reproductive age to close the gap in awareness and knowledge of CVD.

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This study provides epidemiologic and clinical characteristics of 492 consecutive patients diagnosed with SARS-CoV-2 infection at King Faisal Specialist Hospital and Research Centre in Saudi Arabia between March and September 2020. Data were collected from electronic case reports. The cohort was 54% male, with 20.4% aged >60 years, 19.9% aged 31−40 years, and 17% aged 41−50 years. The median incubation period was 16 days, with upper and lower 95% quartiles of 27 and 10 days, respectively. Most patients (79.2%) were symptomatic. Variables significantly different between symptomatic and asymptomatic patients were age, blood oxygen saturation percentage, hemoglobin level, lymphocyte count, neutrophil to lymphocyte (NTL) ratio, and alanine aminotransferase (ALT) and aspartate aminotransferase (AST) level. Asymptomatic patients were mostly younger, with lower body mass index and ALT and AST levels but higher lymphocyte counts, NTL ratio, and CD4, CD8, natural killer cell, IgG, and IgM levels. Factors associated with increased risk of mortality were age (>42 years) and comorbidities, particularly diabetes mellitus and hypertension. Patients who were not given an antiviral regimen were associated with better prognosis than patients who received an antiviral regimen (HR, 0.07; 95% CI, 0.011−0.25). These findings will help clinicians and policymakers adopt best management and treatment options for SARS-CoV-2 infection.

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BACKGROUND: Induction therapy with IL-2 receptor antagonist (IL2-RA) is recommended as a first-line agent in low immunological risk kidney transplant recipients. However, the role of IL2-RA in the setting of tacrolimus-based immunosuppression has not been fully investigated. AIMS: To compare different induction therapeutic strategies with 2 doses of basiliximab vs. no induction in low immunologic risk kidney transplant recipients as per KFSHRC protocol. METHODS: Prospective, randomized, double blind, non-inferiority, controlled clinical trial EXPECTED OUTCOMES: 1. Primary outcomes: Biopsy-proven acute rejection within first year following transplant 2. SECONDARY OUTCOMES: a. Patient and graft survival at 1 year b. eGFR at 6 months and at 12 months c. Emergence of de novo donor-specific antibodies (DSAs) TRIAL REGISTRATION: The study has been prospectively registered at clinicaltrials.gov (NTC: 04404127). Registered on 27 May 2020.

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BACKGROUND: Robotic-assisted pyeloplasty surgery has become the preferred approach of ureteropelvic junction obstruction (UPJO) in pediatrics. However, to our knowledge, there is limited data on the learning curve for robotic-assisted pyeloplasty in children and no similar study from Saudi Arabia. AIMS: The objective of the study was to evaluate the progression of the surgical team performing robotic-assisted laparoscopic pyeloplasty (RALP) and to assess the feasibility of the RALP in children, since it is having been recently started in the Kingdom. SETTINGS AND DESIGN: Retrospective charts and surgical videos review at the tertiary care centre. SUBJECTS AND METHODS: After approval from the internal review board (IRB), we reviewed the surgical video recording of the RALP procedure of 15 patients presented with UPJO from January 2016 to October 2017. Statistical analysis was done for the variables includes dissection time, pyelotomy, anastomosis on both sides, and total surgery time and calculated in minutes. Renal ultrasound reviewed to assess any change in grade. RESULTS: Fifteen patients with UPJO underwent RALP. Of 15 cases, nine were primary and six cases as secondary UPJO. The median age was 8 (3-15) years. Out of 15 cases, 13 and 2 patients diagnosed as Society for Fetal Urology grades of 4 and 3, respectively. Total operative time was prolonged in secondary group as compared to primary pyeloplasty group (mean [standard deviation (SD)]: 166.3 [35.1], range: 125-223, P = 0.0028 versus mean (SD): 149.17 (30.4), range: (114-207), P = 0.0008). The success rate was 100% in primary and 84% in secondary cases. The median length of follow-up was 12.0 (7.0-18.0) and 10.0 (8.0-12.5) months in primary and secondary cases, respectively. The overall complication rate was 13% (2/15) (Clavien grade: 1-2). CONCLUSIONS: The evaluation of the learning curve of RALP for this group of patients concluded that total operative time for RALP, performed by the pediatric urology team, steadily decreased with collective surgical experience.