Background We introduced a video consultation (VC) during the coronavirus (COVID-19) pandemic in an ophthalmology practice with eight doctors to ensure continuous ophthalmological care, infection prophylaxis and to compensate a decreased number of patient presentations. Objective Evaluation of the most common reasons for patient presentations in the VC, the proportion of re-presentations in the practice despite VC, practical challenges associated with the introduction of VC and patient satisfaction. Material and methods Patients with a recent acute visual deterioration and severe eye pain were excluded from the VC. The VC were carried out by a trained specialist in ophthalmology. A questionnaire with eight questions was completed after the VC appointment in order to evaluate the proportion of completed VC and patient satisfaction. Results We included 29 (13 male, Ø 52.6 years, 16 female, Ø 64.7 years) patients in this analysis. The VC could be performed with 68.97% of the participants who rated their overall experience with an average grade of 1.6 (1 very good to 6 insufficient) and all of them indicated that they would recommend the VC. Of presentations in VC 70% were related to the symptoms of the anterior eye segment. In 70% of the cases no re-presentations took place in the unit. Conclusion Our study represents a significant practical application of VC for the management of non-urgent ocular conditions with maximum infection prophylaxis. The introduction of VC was severely limited by technological or user-related issues by the establishment of video connections. Patient satisfaction with VC was high to very high.

Purpose Mutations in hereditary breast cancer genes play an important role in the risk for cancer. Methods Cancer susceptibility genes were sequenced in 664 unselected breast cancer cases from Guatemala. Variants were annotated with ClinVar and VarSome. Results A total of 73 out of 664 subjects (11%) had a pathogenic variant in a high or moderate penetrance gene. The most frequently mutated genes were BRCA1 (37/664, 5.6%) followed by BRCA2 (15/664, 2.3%), PALB2 (5/664, 0.8%), and TP53 (5/664, 0.8%). Pathogenic variants were also detected in the moderate penetrance genes ATM, BARD1, CHEK2, and MSH6. The high ratio of BRCA1/BRCA2 mutations is due to two potential founder mutations: BRCA1 c.212 + 1G > A splice mutation (15 cases) and BRCA1 c.799delT (9 cases). Cases with pathogenic mutations had a significantly earlier age at diagnosis (45 vs 51 years, P < 0.001), are more likely to have had diagnosis before menopause, and a higher percentage had a relative with any cancer (51% vs 37%, P = 0.038) or breast cancer (33% vs 15%, P < 0.001). Conclusions Hereditary breast cancer mutations were observed among Guatemalan women, and these women are more likely to have early age at diagnosis and family history of cancer. These data suggest the use of genetic testing in breast cancer patients and those at high risk as part of a strategy to reduce breast cancer mortality in Guatemala.

Integration of Human Papillomaviruses (HPV) is an important mechanism of carcinogenesis but is absent in a significant fraction of HPV16+ tumors. We applied long-read whole-genome sequencing (WGS) to cervical cancer cell lines and tumors. In two HPV16+ cell lines, we identified large tandem arrays of full-length and truncated viral genomes integrated into multiple locations indicating formation as extrachromosomal DNA (HPV superspreading). An HPV16+ cell line with episomal DNA has tandem arrays of full-length, truncated, and rearranged HPV16 genomes (multimer episomes). WGS of HPV16+ cervical tumors revealed that 11/20 with only episomal HPV (EP) have intact monomer episomes. The remaining nine EP tumors have multimer and rearranged HPV genomes. Most HPV rearrangements disrupt the E1 and E2 genes, and EP tumors overexpress the E6 and E7 viral oncogenes. Tumors with both episomal and integrated HPV16 display multimer episomes and concatemers of human and viral sequences. One tumor has a recurrent deletion of an inhibitory site regulating E6 and E7 expression, and another has a recurrent duplication consistent with HPV superspreading. Therefore, HPV16 can cause cancer without integration through aberrant episomal replication, forming rearranged and multimer episomes.

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