Background and aim: Psychiatric disorders and antidepressant usage rates have increased over the years. However, prejudice, self, and public stigma continue to impede patients from receiving appropriate treatment, especially in traditional societies. In this study, the views of first and sixth-year medical students were examined. We aimed to show the potential effect of public information and 6 years of medical education on knowledge and awareness. Method: Our target population was first and sixth-year medical students at the Faculty of Medicine at Hacettepe University in Ankara, Turkey, during the semester 2018–2019. For measurement, widely used scales such as the Beck Depression Inventory, Beck Anxiety Inventory were administered. In addition, scales formed specifically by our research team: Sociodemographic information form and Depression and Antidepressant Awareness and Knowledge Scale were used. Results: Compared to first-year participants, sixth-year participants had significantly less stigmatizing views on individual statements. The overall stigma score of sixth-year participants was significantly lower ( p < .05) than first-year participants. Linear Regression Analysis showed that the only predictor of overall stigma score was the depression score ( p < .05, beta = −0.36), which acted as a negative predictor. Discussion: Sixth-year participants had higher rates of diagnosed psychiatric illness and psychiatric drug usage. Interestingly, the score was not a predictor of the overall stigma score. However, in the responses to individual statements, we observed an overall increase in knowledge and decreased stigma among the sixth-year participants compared to first-year participants. The effects of medical education on knowledge are significant overall. On the other hand, the level of knowledge and beliefs of our first-year participants, which are similar to the public, show a worrisome situation indicating that broader public education efforts are needed. Our study shows an encouraging perspective, indicating that public awareness campaigns can be very effective in increasing knowledge and decreasing misconceptions.
Background
Xeroderma pigmentosum is an extremely serious genetic disorder defined by sensitivity to sunlight, resulting in sunburn and pigment changes. If patients are not completely protected from ultraviolet radiation, xeroderma pigmentosum is characterized by a greatly increased risk of sunlight-induced cutaneous neoplasms. There is no standard therapy for skin cancer of xeroderma pigmentosum. However, immune checkpoint inhibitors were reported to increase response rates and improve outcomes and life expectancy in patients with various cancers, including squamous cell carcinoma in xeroderma pigmentosum. In this paper, we report on a patient with xeroderma pigmentosum from a consanguineous family with recurrent facial chemotherapy-resistant squamous cell carcinoma lesions treated successfully with an anti-programmed cell death protein 1 monoclonal antibody in both relapses.
Case presentation
A 7-year-old Turkish male was referred to our oncology department for recurring squamous cell carcinoma after local excision of the tumor over his nose. The lesion was a rapidly growing lesion, measuring 8 × 4 cm in size. Physical examination revealed that he also had hemorrhagic crusted plaques and nodules over both eyelids and upper lip, with multiple hypo- and hyperpigmented punctate lesions all over his body. After two more cycles of chemotherapy, progressive disease was noted, and a new lesion on the right eyelid caused blurred vision. Anti-programmed cell death protein 1 antibody treatment was planned with concomitant radiotherapy. He received nivolumab every 3 weeks for 4 months, improving his vision. No new lesions or active complaints have been observed in the current situation, and complete remission has been achieved. On the last admission, the patient was clinically diagnosed with xeroderma pigmentosum. Owing to the condition’s genetic heterogeneity, whole-exome sequencing was performed with Ion Proton next-generation sequencing platform, and the c.2250 + 1G>A splice site mutation of the XPC gene was detected in the homozygous state.
Conclusions
The clinical report emphasizes the importance of clinical awareness and crucial early diagnosis of xeroderma pigmentosum and presents a novel causative homozygous c.2250 + 1G>A splice site mutation. Our case proves that next-generation sequencing is an effective method for the rapid diagnosis and determination of xeroderma pigmentosum genetic etiology.
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