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Objective: To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD. Subjects and methods: Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted and NKX2.5 gene coding region was amplified by polymerase chain reaction (PCR) and sequenced. Results: CHD were found in 8.1% of patients with TD. The mutation screening revealed two known polymorphisms in patients with isolated TD or TD associated with CHD. None of them are predicted to result in codon change in conserved domain. The c.63A>G polymorphism was detected in 54/86 patients (49 with isolated TD and 5 with TD combined with CHD). There was a significant association of c.63A>G polymorphism with hypoplasia (p < 0.036). The c.541G>A polymorphism was observed in only one patient with isolated thyroid hypoplasia. Conclusion: NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia. Arch Endocrinol Metab. 2015;59(6):562-7

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A Tetralogia de Fallot (T4F) é a cardiopatia congênita cianogênica mais comum de todos os nascidos vivos com doença cardíaca congênita. Este artigo busca abordar pontos cruciais desta patologia, trazendo o que há de mais novo e corroborado pela literatura vigente. Concluímos que a Tetralogia de Fallot (T4F) é uma cardiopatia multifacetada e necessita de cuidados específicos na conduta e seguimento de cada paciente.

Objective (1) To evaluate the expression of p63 in laryngeal squamous cell carcinoma (2) To analyze its prognostic significance. Methods p63 expression was examined in 127 patients submitted to total laryngectomy between 1998 and 2000 (111 male/16 female; 69 Caucasian/58 non-Caucasian; 36- to 93-years-old, median: 58 years). 19 tumors were glottic, 16 supraglottic and 92 transglottic(15%, 13% and 72%, respectively). Two cases were stage I(1.6%), 21 were stage II(16.5%), 82 were stage III(64.6%) and 22 were stage IV(17.3%). 96 patients(75.6%) received adjuvant radiotherapy. The immunohistochemical analysis of the expression of p63 included the following scores: 0: no immunostaining; 1: immunostaining in <30% of neoplastics cells; 2: immunostaining in >30% and <70% of neoplastics cells; and 3: immunostaining in >70% of neoplastics cells. Results 62 cases had score 3; 60 had score 2; 4 had score 1; and one case did not show any expression (48.8%, 47.2%, 3.1% and 0.8%). Overall survival was 73.9% at 24 months and 59.5% at 60 months. The disease-free survival was 77.2% and 75.1%, and the disease-specific survival was 79% and 67% at 24 and 60 months respectively. Uni and multivariate analysis identified that decreased immunoexpression of protein p63 and the involvement of the hypopharynx were statistically significant factors for the risk of recurrence and death by cancer. Conclusions p63 expression was highly prevalent in laryngeal squamous cell carcinomas in the present study. Decreased p63 protein expression was statistically associated to the recurrence and death.

A interrupção do arco aórtico (IAA) é uma condição extremamente rara, caracterizada pela interrupção luminal segmentar ou focal. O diagnóstico pormenorizado é realizado por angiotomografia computadorizada (AngioTC) ou ressonância nuclear magnética (RNM) e o tratamento e eminentemente cirúrgico. Entre 2013 e início de 2019, 4 pacientes adultos foram submetidos à cirurgia para tratamento de IAA tipo A no Hospital Santa Izabel (HSI) através da interposição cirúrgica de enxerto por via extra-anatômica, entre a aorta torácica ascendente e descendente, por via mediana. A mediana de permanência dos pacientes na Unidade de Terapia Intensiva (UTI) foi de 3 dias, hospitalar de 7 dias, tempo de acompanhamento médio de 31,2 meses ± 25,3, não havendo nenhuma complicação hemodinâmica, infecciosa ou óbito. Em comparação com outros centros de referência, como o Texas Heart Institute (USA), a técnica de tratamento cirúrgica aplicada no HSI demonstrou-se segura, sem mortalidade e com resultados a médio prazo adequados e compatíveis com a literatura.