Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild muscle weakness, and can have multiple modes of inheritance in association with various genes, including MTM1, DNM2, BIN1 and RYR1. Here we analyzed 18 sporadic patients with clinical and histological diagnosis of CNM and sequenced the DNM2 gene, which codes for the dynamin 2 protein. We found DNM2 missense mutations in two patients, both in exon 8, one known (p.E368K) and one novel (p.F372C), which is found in a position of presumed pathogenicity and appeared de novo. The patients had similar phenotypes characterized by neonatal signs followed by improvement and late childhood reemergence of slowly progressive generalized muscle weakness, elongated face with ptosis and ophthalmoparesis, and histology showing fibers with radiating sarcoplasmic strands (RSS). These patients were the only ones in the series to present this histological marker, which together with previous reports in the literature suggest that, when RSS are present, direct sequencing of DNM2 mutation hot spot regions should be the first step in the molecular diagnosis of CNM, even in sporadic cases.

Avaliar o impacto da unidade de AVC (acidente vascular cerebral) no sistema público de saúde sobre o tempo de internação, mortalidade hospitalar e mortalidade após 30 dias do AVC agudo. Métodos Comparamos uma coorte de pacientes com AVC agudo tratados em enfermaria neurológica ou geral (EG) com uma coorte similar de pacientes com AVC tratados em uma unidade de AVC (UAVC), em um mesmo hospital público. Resultados 729 pacientes foram conduzidos na EG e 344 foram tratados em uma UAVC. A mortalidade inicial foi de 14,7% na EG e 6,9% na UAVC (p<0,001). A mortalidade geral em 30 dias após o AVC foi de 20.9% nos pacientes tratados na EG e 14,2% naqueles tratados na UAVC (p=0,005). Conclusão Observamos significante redução da mortalidade inicial e da mortalidade após 30 dias do AVC nos pacientes tratados na UAVC. Não houve impacto sobre o tempo de internação.

We ascertained whether a public health stroke unit reduces the length of hospitalization, the rate of inpatient fatality, and the mortality rate 30 days after the stroke. Methods We compared a cohort of stroke patients managed on a general neurology/medical ward with a similar cohort of stroke patients managed in a str oke unit. The in-patient fatality rates and 30-day mortality rates were analyzed. Results 729 patients were managed in the general ward and 344 were treated at a comprehensive stroke unit. The in-patient fatality rates were 14.7% for the general ward group and 6.9% for the stroke unit group (p<0.001). The overall mortality rate 30 days after stroke was 20.9% for general ward patients and 14.2% for stroke unit patients (p=0.005). Conclusions We observed reduced in-patient fatalities and 30-day mortality rates in patients managed in the stroke unit. There was no impact on the length of hospitalization.