Browsing by Author "Pestana, M"
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- Collagen Type IV-Related Nephropathies in Portugal: Pathogenic COL4A5 Mutations and Clinical Characterization of 22 FamiliesPublication . Nabais Sá, MJ; Sampaio, S; Oliveira, A; Alves, S; Moura, CP; Silva, SE; Castro, R; Araújo, JA; Rodrigues, M; Neves, F; Seabra, J; Soares, C; Gaspar, MA; Tavares, I; Freitas, L; Sousa, TC; Henriques, AC; Costa, FT; Morgado, E; Sousa, FT; Sousa, JP; da Costa, AG; Filipe, R; Garrido, J; Montalban, J; Ponce, P; Alves, R; Faria, B; Carvalho, MF; Pestana, M; Carvalho, F; Oliveira, JPAlport syndrome (AS) is caused by pathogenic mutations in the genes encoding α3, α4 or α5 chains of collagen IV (COL4A3/COL4A4/COL4A5), resulting in hematuria, chronic renal failure (CRF), sensorineural hearing loss (SNHL) and ocular abnormalities. Mutations in the X-linked COL4A5 gene have been identified in 85% of the families (XLAS). In this study, 22 of 60 probands (37%) of unrelated Portuguese families, with clinical diagnosis of AS and no evidence of autosomal inheritance, had pathogenic COL4A5 mutations detected by Sanger sequencing and/or multiplex-ligation probe amplification, of which 12 (57%) are novel. Males had more severe and earlier renal and extrarenal complications, but microscopic hematuria was a constant finding irrespective of gender. Nonsense and splice site mutations, as well as small and large deletions, were associated with younger age of onset of SNHL in males, and with higher risk of CRF and SNHL in females. Pathogenic COL4A3 or COL4A4 mutations were subsequently identified in more than half of the families without a pathogenic mutation in COL4A5. The lower than expected prevalence of XLAS in Portuguese families warrants the use of next-generation sequencing for simultaneous COL4A3/COL4A4/COL4A5 analysis, as first-tier approach to the genetic diagnosis of collagen type IV-related nephropathies.
- Syphilitic Hepatitis: a Rare Complication of Secondary Syphilis. A Case ReportPublication . Caldeira, M; João, AL; Pestana, M; Canha, I; Simões, G; Fernandes, CSyphilis is a sexually transmitted disease caused by Treponema pallidum, progressing through active and latent stages if left untreated. Hepatic involvement can occur in secondary syphilis, but this is an uncommon complication, with few published case reports. A 34-year-old man without significant medical history was admitted to the gastroenterology department with a 2-week history of unexplained jaundice and acute cholestatic hepatitis. He also presented with erythematous papules and plaques in the genital area, suggestive of secondary syphilis. T. pallidum hemaglutination assay and venereal disease research laboratory test were both positive, the latter with a 1:16 titer. The diagnosis of secondary syphilis with hepatic involvement was considered. The improvement of cutaneous and laboratory findings after intramuscular benzathine penicillin injection supported this hypothesis. Symptomatic cholestatic hepatitis is a rare feature of the systemic spectrum of secondary syphilis. The clinical and laboratorial response after penicillin treatment is a strong clue for this diagnosis.
- Teledermatology and the COVID-19 Pandemic: Experience from a Portuguese CenterPublication . Santos-Coelho, M; Barbosa, J; Pestana, M; Caldeira, M; Paiva Lopes, MJ; Cabete, JIntroduction: In order to maintain assistential activity while ensuring social distancing and mobility restrictions imposed during the COVID-19 pandemic, the Dermatovenereology Department of Hospital de Santo António dos Capuchos implemented an asynchronous teledermatology platform based on e-mail and smartphones. This study aims to evaluate its application to urgent outpatient and inpatient consultations while considering its benefits and limitations. Methods: All written communications received via e-mail or smartphone between April 1, 2020 and April 31, 2021 were reviewed. Data was evaluated and statistical analysis was made using SPSS Statistics 25® software. Results: We reviewed 471 referrals (329 for outpatient and 142 for inpatient urgent consultations). E-mail was the most used platform (68.8%) and most referrals were composed of clinical information and clinical images (70.3%). Only 29% of these contained adequate clinical information and clinical images simultaneously. The majority of referrals received a response by a dermatologist in less than 24 hours (89%) and conversion to in-person evaluation was made in 58% of cases. The average time for in-person evaluation after triage was 0.25 days for inpatients and 4 days for outpatients. Conclusion: The COVID-19 pandemic hastened teledermatology implementation in order to maintain good healthcare. This study demonstrates that these platforms where wildly accepted by healthcare professionals and patients and remote consultations were possible in a significant percentage of cases. Teledermatology struggles with its own limitations and can never fully replace in-person evaluation, but can present itself as a useful tool in daily practice.