Knowledge, attitude, and perceptions about cancer genetic testing in clinical practice in Karachi, Pakistan.

Healthcare professionals (HCP) play an important role in the practical application of genetic screening tests but often feel inadequately prepared for cancer genetic testing (CGT) in clinical care. As the complexity of gene-related malignancies increases, it demands HCPs' preparedness to cater to patients' needs. Therefore, the aim of our study is to assess the knowledge, attitude, and practices of HCPs in Pakistan regarding the application of cancer genetics. Our cross-sectional survey was conducted from April 2022 to June 2022 amongst HCPs at a private and a governmental institution in Karachi, Pakistan. Non-probability random convenience sampling was used to select the population; however. non-clinical HCPs, as well as Interns, were excluded from our study. A total of 210 HCPs, 56.7% (119) bearing an experience of over 5 years of clinical experience, were included in this study. Most respondents from both hospitals deemed their knowledge inadequate, with only 2% (2) and 1.8% (2) being extremely knowledgeable, respectively. 68.6% (144) HCPs displayed a positive attitude towards CGT, with 55.2% (116) participants perceiving CGT in a positive light. As compared to the private sector, significantly more HCPs in the public sector dedicated ≥ 5 h/week for CME (P = 0.006), and were better prepared to counsel patients (P = 0.021) and interpret results concerning CGT (P = 0.020). Additionally, screening tests for specific cancer types were popularly considered a worthwhile avenue of investment to improve the current state of CGT in our healthcare system [47.6% (N = 100)]. Demonstrating a lack of knowledge among Pakistani doctors, our results call upon the need for additional training concerning CGT in both the public and private sectors alike. Understanding specific gaps in knowledge may further help enhance post-graduate training programs and eventually lead to effective incorporation of CGT into our healthcare setting.

Survival outcomes of patients with concomitant acute variceal bleeding and acute coronary syndrome, and the role of antiplatelet agents: an institutional experience from a lower middle-income Country.

BACKGROUND: There is strong evidence demonstrating the incidence of Acute Coronary Syndrome (ACS) among patients with cirrhosis, with the initiation of antiplatelet therapy being subject to debate due to an increased risk of bleeding. This study aimed to determine mortality among patients presenting with concomitant Acute Variceal Bleeding (AVB) and ACS at Index admission. Furthermore, the recurrence of AVB and ACS among patients discharged with or without antiplatelet therapy was determined. METHODS: This retrospective study was conducted at the Aga Khan University Hospital, Karachi, Pakistan on patients ≥ 18 years of age admitted to our ER with concomitant ACS and AVB between January 2002 to December 2017. Follow-up for 6 months or till death (if < 6 months), was observed, to help determine the incidence of recurrent AVB and ACS. The incidence of AVB and ACS was then compared amongst patient groups based on the usage of anti-platelet drugs on discharge. RESULTS: A total of 29 patients were included, with a mean age of 58.7 ± 11.0 years. Seven patients died on admission, having worse underlying liver disease. No mortality was reported among the remaining 22 patients. All 22 patients underwent surveillance endoscopy with variceal band ligation until obliteration, as needed. Only 7 patients from the surviving cohort received antiplatelet therapy. After 6.05 ± 1.1 months of follow-up, 1/22 (4.5%) developed recurrent AVB and 2/22 (9.1%) developed cardiovascular events. Importantly, there was no significant difference in the incidence of recurrent AVB (P = 1.000) and ACS (P = 0.091), depending on the use of antiplatelet therapy. CONCLUSION: Concomitant AVB and ACS is a severe disorder with increased mortality among cirrhotic patients at presentation. The incidence of AVB does not seem to exacerbate with the use of antiplatelet agents, provided successful obliteration of varices is achieved using elective band ligation.

Pineal cyst apoplexy and memory loss: a novel complication.

An 8-year-old boy presented to our hospital complaining of a bilateral headache associated with episodes of anterograde amnesia. He had a road traffic accident 3 years ago when a computed tomography (CT) scan revealed traumatic brain injury. In addition, a small pineal cyst (PC) was noted with minor intramural calcifications. A follow-up CT a day later demonstrated increased density in the pineal gland of 60 Hounsfield Units, suggestive of apoplectic changes in the PC. However, the patient was lost to follow-up and presented with memory loss a year and a half later, upon which CT and magnetic resonance imaging revealed enlargement of the PC. PC apoplexy is a very rare occurrence usually affecting young adult women; cases in children are rarely reported. Furthermore, PC apoplexy secondary to severe craniofacial trauma manifesting as memory loss has not yet been reported in the literature to the best of our knowledge.

The Achilles' heel of cancer survivors: fundamentals of accelerated cellular senescence.

Recent improvements in cancer treatment have increased the lifespan of pediatric and adult cancer survivors. However, cancer treatments accelerate aging in survivors, which manifests clinically as the premature onset of chronic diseases, such as endocrinopathies, osteoporosis, cardiac dysfunction, subsequent cancers, and geriatric syndromes of frailty, among others. Therefore, cancer treatment-induced early aging accounts for significant morbidity, mortality, and health expenditures among cancer survivors. One major mechanism driving this accelerated aging is cellular senescence; cancer treatments induce cellular senescence in tumor cells and in normal, nontumor tissue, thereby helping mediate the onset of several chronic diseases. Studies on clinical monitoring and therapeutic targeting of cellular senescence have made considerable progress in recent years. Large-scale clinical trials are currently evaluating senotherapeutic drugs, which inhibit or eliminate senescent cells to ameliorate cancer treatment-related aging. In this article, we survey the recent literature on phenotypes and mechanisms of aging in cancer survivors and provide an up-to-date review of the major preclinical and translational evidence on cellular senescence as a mechanism of accelerated aging in cancer survivors, as well as insight into the potential of senotherapeutic drugs. However, only with time will the clinical effect of senotherapies on cancer survivors be visible.

A Rare Presentation of a True Intra-articular Lipoma: A Case Report and Review of Imaging Findings.

This report describes the unique case of an intra-articular lipoma in a 34-year-old male. The patient presented with a history of chronic knee pain associated with an intermittent sensation of the knee giving way. Physical examination and initial radiographic imaging were unremarkable. Magnetic resonance imaging (MRI) revealed a 9.2 x 6.7 mm ovoid mass posterior to the posterior cruciate ligament (PCL) exhibiting hyperintense signals on T1-weighted images and intermediate-to-high intensity signals on T2. On subsequent proton density fat suppression sequences, the mass demonstrated homogenous signal suppression and was confirmed as being a lipoma. To the best of our knowledge, this is only the second reported case of an intra-articular lipoma arising posterior to the PCL. Intra-articular lipomas, albeit rare, should be considered in the differential diagnosis for chronic knee pain with associated joint motion abnormalities. MRI remains the gold standard in imaging intra-articular soft tissue pathology and should be the study of choice in differentiating intra-articular lipomas from similar conditions such as pigmented villonodular synovitis and lipoma arborescens.

Inflammatory bowel disease causing retroperitoneal varicosity mimicking a renal artery aneurysm: A novel case report and literature review.

A 17-year-old female presented to our hospital complaining of bloody diarrhea 4-6 times per day for the past month. She was a known case of inflammatory bowel disease noncompliant to her medications. Abdominal computed tomography revealed an unusually dilated mass in the retroperitoneum at L2 vertebral level connecting the lumbar and left renal veins. The renal artery was visualized separately, and a diagnosis of communicating vein varicosity was made. This lesion can be misleading on imaging, hence our aim to disseminate our findings to practicing radiologists. The differential diagnosis of these lesions include retroperitoneal lymphadenopathy, renal artery aneurysms, and testicular cancers causing retroperitoneal lymphadenopathy. To our knowledge, this is the first case to be reported in association with inflammatory bowel disease, perhaps providing a novel insight into the pathogenesis of this lesion that has not been considered in the contemporary literature.

Radiologic Diagnosis of Nasal Gliomas with an Illustrative Case Report.

Nasal gliomas are congenital masses of dysplastic neuroglial and fibrovascular tissue. However, other congenital nasal masses, including encephaloceles, hemangiomas, and dermoid cysts make clinical diagnosis difficult. Radiological examination is imperative to accurate diagnosis of nasal gliomas. We hereby present the diagnostic imaging features of these lesions, which necessitate inclusion into the differential diagnosis of a congenital nasal mass.

Role of gene therapy in Fanconi anemia: A systematic and literature review with future directions.

Gene therapy (GT) has been reported to improve bone marrow function in individuals with Fanconi anemia (FA); however, its clinical application is still in the initial stages. We conducted this systematic review, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, to assess the long-term safety and clinical outcomes of GT in FA patients. Electronic searches from PubMed, Web of Science, Cochrane Library, and Google Scholar were conducted and full texts of articles meeting our inclusion criteria were reviewed. Three clinical trials were included, with a total of nine patients and mean age of 10.7 ±â€¯5.7 years. All patients had lentiviral-mediated GT. A 1-year follow-up showed stabilization in blood lineages, without any serious adverse effects from GT. A metaregression analysis could not be conducted, as very little long-term follow-up data of patients was observed, and the median survival rate could not be calculated. Thus, we can conclude that GT seems to be a safe procedure in FA; however, further research needs to be conducted on the longitudinal clinical effects of GT in FA, for a better insight into its potential to become a standard form of treatment.

Adenoma detection rate as a quality indicator for colonoscopy: a descriptive cross-sectional study from a tertiary care hospital in Pakistan.

Background and study aims Adenoma detection rate (ADR) is validated for measuring quality of colonoscopy, however there is lack of colorectal cancer (CRC) screening program in South Asia. The purpose of this study is to analyze and review the polyp detection rate (PDR) and ADR and provide insight into the factors that influence them in Pakistan. Patients and methods This retrospective, cross-sectional study was performed at the Aga Khan University Hospital, Karachi, Pakistan, on patients ≥ 18 years, who underwent colonoscopy between January 1, 2017 and June 30, 2018. Results Of 1985 patients, 59 % were male and 41 % female, with mean age of 47.8 ±â€Š16.2 years. The most common indication for colonoscopy was bleeding-per-rectum (28.0 %) and overall PDR and ADR were 17.9 % and 9.9 %, respectively. There was no significant difference between genders for either PDR ( P  = 0.378) or ADR ( P  = 0.574). Significantly higher PDR and ADR were found for patients ≥ 50 years ( P  < 0.001), as well as for suboptimal bowel preparation [PDR (25.7 %; P  = 0.007) and ADR (18.6 %; P  = 0.014)]. Interestingly, endoscopists with < 500 colonoscopy-procedural-experience reported a higher PDR (21.6 %; P  = 0.020) and ADR (14.4 %; P = 0.049), corresponding to a significantly higher PDR (20.6 %; P  = 0.005) and ADR (11.7 %; P  = 0.02) for endoscopists in practice for ≤ 10 years. Conclusions We have noticed low PDR and ADR, which require further investigation and research. In addition, we believe there should be a different baseline ADR and PDR as a quality indicator for colonoscopy in our region, where no internationally recommended colonoscopic screening programs have been implemented.