Browsing by Author "Campos, Teresa"
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- Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare VariantsPublication . Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Ouesleti, Souad; Campos, Teresa; Santos, Helena; Martins, Esmeralda; Cardoso, Maria Teresa; Vilarinho, Laura; Alves, SandraLysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a group LSDs affect a significant number of patients, placing an important burden on affected individuals and their families but also on national health care systems worldwide. Here, we present our results on the use of an in-house customized next-generation sequencing (NGS) panel of genes related to lysosome function as a first-line molecular test for the diagnosis of LSDs. Ultimately, our goal is to provide a fast and effective tool to screen for virtually all LSDs in a single run, thus contributing to decrease the diagnostic odyssey, accelerating the time to diagnosis. Our study enrolled a group of 23 patients with variable degrees of clinical and/or biochemical suspicion of LSD. Briefly, NGS analysis data workflow, followed by segregation analysis allowed the characterization of approximately 41% of the analyzed patients and the identification of 10 different pathogenic variants, underlying nine LSDs. Importantly, four of those variants were novel, and, when applicable, their effect over protein structure was evaluated through in silico analysis. One of the novel pathogenic variants was identified in the GM2A gene, which is associated with an ultra-rare (or misdiagnosed) LSD, the AB variant of GM2 Gangliosidosis. Overall, this case series highlights not only the major advantages of NGS-based diagnostic approaches but also, to some extent, its limitations ultimately promoting a reflection on the role of targeted panels as a primary tool for the prompt characterization of LSD patients.
- Quando as saquetas se confundem – ingestão de cloridrato de benzidaminaPublication . Dias, Ana Lopes; Pereira, Helena; Soares, Joana; Campos, Teresa; Quaresma, MárciaIntrodução: O cloridrato de benzidamina é um anti-inflamatório não esteróide com propriedades analgésicas, antipiréticas e antimicrobianas. Caso Clínico: Menino de 4 anos e 8 meses recorreu ao serviço de urgência por agitação psicomotora e alucinações vi- suais, com início cerca de 1 hora após a ingestão acidental de uma saqueta de 500 mg de cloridrato de benzidamina. Ao exa- me objetivo apresentava ataxia, tremor, abalos espasmódicos ocasionais, agitação psicomotora e alucinações visuais. Após lavagem gástrica e administração de carvão ativado, administrou-se haloperidol pelo quadro acentuado de agitação com alucinações visuais. Dada a possibilidade de ocorrência de asfixia por espasmo da musculatura respiratória, foi transferido para um hospital terciário. Apresentou evolução favorável, com alta ao 2º dia de internamento. Discussão: Alerta-se para o risco de confusão na via de administração de apresentações para uso tópico e oral. Sendo a principal manifestação o efeito alucinogénico, a ingestão acidental ou intencional de benzidamina deve ser considerada em quadros psicóticos agudos.
- Suspecting classical homocystinuria in an adolescent born before the newborn screening programPublication . Carvalho, Fábia; Campos, Teresa; Reis, Joana; Portela, Mariana; Vasconcelos, Carla; Ferreira, Carla; Cerqueira, Arnaldo; Oliveira, Ângela; Vilarinho, Laura; Leão-Teles, Elisa; Rodrigues, EsmeraldaIntroduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study. Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism. Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.