Browsing by Author "Martins, ML"
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- Congenital Cytomegalovirus Infection in Twin PregnancyPublication . Carvalho, AA; Silva, CB; Martins, ML; Cassiano Santos, GCassianoCytomegalovirus (CMV) infection is one of the preeminent congenital viral infections, and despite its potential morbidity, uncertainty about its physiopathology, prevention and treatment remains until now. We report a case of a dichorionic and diamniotic twin pregnancy in which only one of the fetus had signs of being affected. The first twin had prenatal diagnosis of intrauterine growth restriction and hyperechogenic bowel, attributable to CMV infection, while there was no evidence of infection of the second one. Prenatal treatment was done with maternal administration of valacyclovir and postnatal treatment of the infected newborn with oral valganciclovir with normal neurodevelopment assessment at 12 months corrected age. In this case, maternal CMV infection was not equally transmitted to both fetuses, suggesting that there may be intrinsic fetal and placental factors influencing both transmission and the clinical features of the infection.
- Kerion Caused by Microsporum Audouinii in a ChildPublication . Fernandes, S; Amaro, C; Martins, ML; Inácio, J; Araújo, T; Vieira, R; Silvestre, MJ; Cardoso, JKerion celsi is rarely associated with Microsporum audouinii infection. We report the case of a 3-year-old girl with a kerion celsi caused by M. audouinii and successfully treated with oral terbinafine. Fungi identification was made by macro and microscopical colony morphology analyses and molecular (genotypic) studies.
- LAMA2 Gene Analysis in a Cohort of 26 Congenital Muscular Dystrophy PatientsPublication . Oliveira, J; Santos, R; Soares-Silva, I; Jorge, P; Vieira, E; Oliveira, ME; Moreira, A; Coelho, T; Ferreira, JC; Fonseca, MJ; Barbosa, C; Prats, J; Aríztegui, ML; Martins, ML; Moreno, T; Heinimann, K; Barbot, C; Pascual-Pascual, SI; Cabral, A; Fineza, I; Santos, M; Bronze-da-Rocha, ECongenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-alpha2. We describe the molecular study of 26 patients with clinical presentation, magnetic resonance imaging and/or laminin-alpha2 expression in muscle, compatible with MDC1A. The combination of full genomic sequencing and complementary DNA analysis led to the particularly high mutation detection rate of 96% (50/52 disease alleles). Besides 22 undocumented polymorphisms, 18 different mutations were identified in the course of this work, 14 of which were novel. In particular, we describe the first fully characterized gross deletion in the LAMA2 gene, encompassing exon 56 (c.7750-1713_7899-2153del), detected in 31% of the patients. The only two missense mutations detected were found in heterozygosity with nonsense or truncating mutations in the two patients with the milder clinical presentation and a partial reduction in muscle laminin-alpha2. Our results corroborate the previous few genotype/phenotype correlations in MDC1A and illustrate the importance of screening for gross rearrangements in the LAMA2 gene, which may be underestimated in the literature.
- Phaeohyphomycosis Caused by Alternaria Infectoria Presenting as Multiple Vegetating Lesions in a Renal Transplant PatientPublication . Cunha, D; Amaro, C; Vieira, MR; Martins, ML; Maduro, AP; Inácio, J; Afonso, A; Marques Pinto, G; Cardoso, JThe genus Alternaria is one of the most common black moulds and appears to be increasing as a causative agent of subcutaneous phaeohyphomycosis, particularly among immunosuppressed patients. A 53-year-old patient who had received a kidney transplant presented with multiple verrucous lesions on the distal extremities. Positive histopathology and cultures, in addition to rDNA ITS region sequencing, identified the fungal isolate as Alternaria infectoria. Oral itraconazole was administered for 10 months. A follow-up at 15 months demonstrated no signs of infection. Clinical manifestations of cutaneous alternariosis vary significantly and only a few cases have been described in the literature. Although optimal treatment options remain controversial, this case of phaeohyphomycosis was successfully treated with itraconazole monotherapy.