RESUMEN
INTRODUCTION: Budd-Chiari syndrome (BCS) is primarily a disease of hepatic vein blockage, which involves a backflow of blood to the liver. Although there have been many causes linked to this disease, most commonly, it occurs due to hypercoagulable states and blood disorders. In recent times, there has been a fast spread of knowledge regarding early diagnosis and various treatment modalities, which has enabled the prevention of mortality in most cases. This has primarily spread through research articles published in various journals. Thus, the article aims to compare the gender trend ratios to identify the associated discrepancies in terms of male and female author contributions who have been the primary authors for articles pertaining to this disease. Methodology: A PubMed database between the years 2013 and 2022 was used for the bibliometric analysis. The gender of the primary author was analyzed by NamSor, an application programming interface (API). The statistical analysis was conducted using R software, the ARIMA model, and graphs were prepared using Datawrapper. RESULTS: Out of 667 articles extracted, the analysis showed that there were 455 (68.2%) first male authors and 212 (31.8%) first female authors. We also formulated various other results, which depicted a higher female-to-male author ratio including various journals and different countries. Although there has been an increasing trend of male authors as compared to female authors, this study found that male authorship for research on this disease is still higher. CONCLUSIONS: This study depicts that there is a necessity to draw attention to the inequitable systems favoring men over women for publications. The predictive analysis conducted also helps to foresee the trend in the next few years and explains the necessity of addressing the disparities among both genders in healthcare systems.
RESUMEN
Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes. Ocular signs are fairly common and include an achromic patch and retinal astrocytic hamartomas, which usually have a maximum size of between 0.5 and 5 mm. The incidence of tuberous sclerosis is estimated to be 1 in 5000-10,000 individuals, with both familial and sporadic cases reported. The diagnostic criteria for tuberous sclerosis include the presence of major and/or minor clinical features as well as genetic mutations. We present the case of a 15-year-old girl, presented with a history of seizures and blurred vision. Physical examination revealed angiofibroma on the face. Further evaluation, including contrast-enhanced MRI of the brain and ophthalmological consultation, led to the diagnosis of tuberous sclerosis. Additional imaging studies confirmed the presence of subependymal giant cell astrocytoma, retinal astrocytoma, lymphangioleiomyomatosis in the lungs, and renal angiomyolipoma. This case highlights the importance of considering tuberous sclerosis in patients presenting with seizures and ocular symptoms. This case sheds light on early diagnosis and appropriate management which are crucial in preventing complications and improving patient outcomes.
RESUMEN
Non-Hispanic Black breast cancer survivors have poorer outcomes and higher mortality rates than White survivors, but systemic biological mechanisms underlying these disparities are unclear. We used circulating leukocytes as a surrogate for measuring systemic mechanisms, which might be different from processes in the target tissue (e.g., breast). We investigated race-based differences in DNA damage and repair, using a novel CometChip assay, in circulating leukocytes from breast cancer survivors who had completed primary cancer therapy and were cancer free. We observed novel race-based differences in systemic DNA damage and repair activity in cancer survivors, but not in cells from healthy volunteers. Basal DNA damage in leukocytes was higher in White survivors, but Black survivors showed a much higher induction after bleomycin treatment. Double-strand break repair activity was also significantly different between the races, with cells from White survivors showing more sustained repair activity compared to Black leukocytes. These results suggest that cancer and cancer therapy might have long-lasting effects on systemic DNA damage and repair mechanisms that differ in White survivors and Black survivors. Findings from our preliminary study in non-cancer cells (circulating leukocytes) suggest systemic effects beyond the target site, with implications for accelerated aging-related cancer survivorship disparities.