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Purpose: Retinoblastoma, a childhood cancer originating in the retina, is primarily attributed to pathogenic RB1 mutations The aim of this study is to conduct a mutational analysis of the RB1 gene in cases of unilateral Retinoblastoma among individuals within the Jordanian population. Methods: In this study, the peripheral blood of 50 unilateral Rb patients was collected, genomic DNA was extracted, and mutations were identified using Next Generation Sequencing (NGS) analysis. Results: In this cohort of 50 unrelated patients with unilateral Rb, the median age at diagnosis was eight months (mean, 12 months; range; 2 weeks to 54 months). Twenty-eight (56%) were males, 29 (58%) had the disease in the right eye, 3 (6%) had a positive family history of Rb, and 20 (40%) were diagnosed within the first year of life. RB1 gene pathogenic mutations were detected in 14 out of 50 (28%) patients, indicating germline disease. Among unilateral non-familial cases, 11 out of 47 (23%) were found to have germline RB1 mutations. Overall, five (36%) of the germline cases had the same mutation detected in one of the parents consistent with an inherited disease (four (80%) were of paternal origin); 3 (60%) of these had affected carrier parent, two (40%) had an unaffected carrier parent. Nine (64%) patients had the nonsense mutation, and six (43%) had the mosaic mutation. The significant prognostic factors for positive genetic testing were positive family history (p = 0.018) and age at diagnosis less than 12 months (p = 0.03). At a median of 54 months follow-up, two (4%) patients were dead from distant metastasis. The overall eye salvage rate was 44% (n = 22/50) eyes; 100% for groups A, B, and C, 60% for group D, and none for group E eyes. There was no correlation between the presence of germline mutation and outcome in terms of eye salvage, metastasis, and survival. Conclusion: In this study, 28% of patients with unilateral Rb had germline RB1 mutations, of which 43% were inherited, and one-third presented beyond their first year of life. Therefore, molecular screening is critical for genetic counseling regarding the risk for inherited Rb in unilateral cases, including those with no family history, regardless of the age at diagnosis. However, germline mutations did not appear to significantly predict patient outcomes regarding eye salvage, metastasis, and survival.
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Introduction: The use of focal therapies for prostate cancer (PCa) has soared, as it controls disease and is associated with minimal side effects. Bibliometric analysis examines the global research landscape on any topic to identify gaps in the research and areas for improvement and prioritize future research efforts. This study aims to examine the research outputs and trends and collaboration landscape in the field of focal therapy for PCa on a global scale. Methods: We searched Medline, PubMed and Scopus for peer-reviewed publications on our research topic using controlled keywords. Search results were limited to the period between 1980 and 2022, screened for duplicates and then included in our study based on prespecified eligibility criteria. The Bibliometrix Package was used for comprehensive science mapping analysis of co-authorship, co-citation and co-occurrence analysis of countries, institutions, authors, references and keywords in this field. Results: This analysis included 2578 research articles. The annual scientific production increased from one article in 1982 to 143 in 2022 (13.21%). The average citation per year was incrementally increasing, and these documents were cited around 32.52 times. The documents included in this analysis were published in 633 sources. The international collaboration index was 22.7. In total, 6280 author keywords were identified. The most used keywords were 'prostate cancer', 'focal therapy', 'prostate' and 'photodynamic therapy'. Conclusion: This bibliometric analysis has provided a comprehensive review of focal therapy in PCa research, highlighting both the significant growth in the field and the existing gaps that require further exploration. The study points to the need for more diverse international collaboration and exploration of various treatment modalities within the context of focal therapy.
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Introduction: Surgical training programs are pivotal in shaping skilled and compassionate surgeons, with mentors playing a crucial role in instilling clinical competence and essential attributes. This study aims to describe the characteristics of the program directors of Endourological Society-accredited fellowship programs. Methodology: The Endourological Society's website was used to identify program directors. The following data points were extracted: year of graduation from medical school, year of completing residency, if they had attended fellowship training or held additional degrees such as (PhD, MS, MBA, MSc, etc.), and number of publications on Scopus. Descriptive statistics were used to analyze the data. Results: A total of 84 fellowship programs and 115 program directors were identified. Geographically, 77.4% (n = 65) were in North America, 8.3% (n = 7) in Asia, 8.3% (n = 7) in the Middle East, 3.6% (n = 3) in Europe, and 2.4% (n = 2) in South America. Of the 115 program directors, 94.8% were male, and only 5.2% were female. Program directors graduated medical school with a median year of 1998 (1966-2015). Eighty percent attended fellowship programs, and 19.1% held additional degrees (PhD, MS, MBA, MSc, etc.). The median number of publications was 79 (4-1963), with a median citation of 1607 (1-43,565). The median H-index was 23 (range: 1-110). Conclusion: Most program directors of Endourological Society-accredited fellowship programs are fellowship-trained and a notable number held a second degree. However, a pronounced gender disparity is observed, with limited female representation among program directors. This assessment contributes valuable insights into the urology and endourology mentorship, emphasizing the need for broader diversity and inclusivity in leadership roles.
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Internato e Residência , Mentores , Humanos , Masculino , Feminino , Inquéritos e Questionários , Bolsas de Estudo , Liderança , Educação de Pós-Graduação em MedicinaRESUMO
Background: Prostate cancer remains a major public health challenge in the Arab world with few population-based screening programmes, a high incidence of advanced disease at diagnosis, and limited patient access to sub-specialist care. A large number of patients diagnosed with prostate cancer use the (World Wide Web) internet to learn more about the disease and treatment options; however, material in the Arabic language is scarce. This study aims to objectively assess the quality and reliability of the information on YouTube™, which is the most globally used video platform, pertaining to prostate cancer videos published in Arabic. Methods: A total of 100 videos were identified by searching specific keywords in Arabic (Prostate cancer, prostate cancer treatment and prostate). Retrieved videos were analysed and categorised into four groups according to content as useful, misleading, personal experience, or irrelevant. Useful videos were assessed using the global quality scale (GQS) as a validated measure of quality, which is graded on a 5-point Likert scale, with 1 representing poor quality and 5 representing excellent quality. The modified DISCERN tool was used as a measure of reliability. The tool has a potential total score of 5 points, with higher scores indicating higher reliability. Results: Most of the speakers in these videos identified themselves as health workers (77%). Only 8% of the videos sources were hospital or medical organisations. Of the 100 retrieved videos, 86% were found to have useful content, while 14% were found to be misleading or irrelevant. The median GQS score of the useful videos was 4 (IQR: 4-5), while the median modified DISCERN tool was 4 (IQR: 3-4). Conclusion: To our knowledge, this is the first in-depth study to objectively assess the quality and reliability of information pertaining to prostate cancer in the Arabic language on YouTube™. More efforts are needed to improve the quality of prostate cancer educational materials and videos in the Arabic language on YouTube™. Patient focus groups are planned as the next step to address the information gap for patients with prostate cancer in the Arabic language.
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[This corrects the article DOI: 10.3332/ecancer.2023.1573.].