RESUMO
Mitochondrial DNA mutations have been associated with different illnesses in humans, such as Kearns-Sayre syndrome (KSS), which is related to deletions of different sizes and positions among patients. Here, we report a Mexican patient with typical features of KSS containing a novel deletion of 7629 bp in size with 85% heteroplasmy, which has not been previously reported. Sequence analysis revealed 3-bp perfect short direct repeats flanking the deletion region, in addition to 7-bp imperfect direct repeats within 9-10 bp. Furthermore, sequencing, alignment and phylogenetic analysis of the hypervariable region revealed that the patient may belong to a founder Native American haplogroup C4c.
Assuntos
DNA Mitocondrial/genética , Genes Mitocondriais/genética , Indígenas Norte-Americanos/genética , Síndrome de Kearns-Sayre/genética , Filogenia , Deleção de Sequência/genética , Sequência de Bases , Southern Blotting , Encéfalo/diagnóstico por imagem , Criança , Primers do DNA/genética , Feminino , Humanos , Síndrome de Kearns-Sayre/patologia , Funções Verossimilhança , México , Modelos Genéticos , Dados de Sequência Molecular , Sequências Repetitivas de Ácido Nucleico/genética , Alinhamento de Sequência , Análise de Sequência de DNA , Tomografia Computadorizada por Raios XRESUMO
Paracoccidioidomycosis is the most important systemic mycosis in South America. In Europe the disease is very rare and only found in returning travelers. Here we report on a 56-year-old Spanish missionary with respiratory symptoms but no other affected systems. Diagnosis was made based on serology and PCR for Paracoccidioides brasiliensis.
Assuntos
Paracoccidioidomicose/diagnóstico , Missões Religiosas , Antifúngicos/uso terapêutico , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Missionários , Paracoccidioidomicose/tratamento farmacológico , Espanha , VenezuelaRESUMO
Initially described in travelers, outbreaks of cyclosporiasis were soon linked to imported food products. An outbreak of cyclosporiasis in Spanish travelers is described. After identification of Cyclospora cayetanensis in stool analyses, a specific questionnaire was completed. Pyrosis was described in 57% of cases (4/7). Peptic symptoms can be a useful clue to indicate the diagnosis of cyclosporiasis in patients with travelers' diarrhea.