Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.

An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was described, presenting as a congenital myopathy with ophthalmoplegia. Here, we present a patient with symptoms beginning at age 16 years, of prominent distal but also proximal weakness, bulbar involvement and ophthalmoplegia. Initially, clinically classified as oculopharyngodistal myopathy, the patient was found to carry a novel, de novo MYH2 mutation c.5630T>C p.(Leu1877Pro). This expands the phenotype of dominant MYH2 myopathies with the clinical phenotype overlapping the oculopharyngodistal myopathy spectrum.

Enhanced detection of respiratory viruses using the shell vial technique and monoclonal antibodies.

The shell vial technique using A549 and MDCK cells, coupled with the use of Bartels respiratory viral monoclonal antibodies, was evaluated initially for the detection of 28 previously isolated respiratory viruses. All viruses were recovered and correctly identified. The shell vial-monoclonal antibody technique was then evaluated for virus isolation from 338 respiratory specimens and compared with the conventional tube method. Both methods gave rise to a total of 83 virus isolates. Of these isolates, 68 (20.1%) were isolated and identified by the shell vial-monoclonal method; 60 (17.8%) were culture-positive by the conventional tube method; forty-five (13.3%) were positive by both methods. The shell vial-monoclonal antibody method yielded 12 isolates of influenza A, two isolates of parainfluenza type 3 and one each of parainfluenza types 1 and 3, which were missed by the conventional tube method, indicating the superior sensitivity and specificity of the shell vial-monoclonal antibody method (Chi-square analysis, P = 0.001) for the detection of these viruses. Of the 50 RSV isolates, 29 were detected by both methods and there were 21 discrepancies between the two methods. The shell vial-monoclonal antibody method also improved the turn-around time for the respiratory virus groups.

Six-year retrospective surveillance of gastroenteritis viruses identified at ten electron microscopy centers in the United States and Canada.

To identify the prevalence, seasonality and demographic characteristics of patients with viral gastroenteritis, we reviewed 6 years of retrospective data on viral agents of gastroenteritis screened by electron microscopy at 10 centers in the United States and Canada. From 52,691 individual electron microscopic observations, a virus was detected in 16% of specimens, and the yearly positive detection rate among centers ranged from 8 to 34%. Rotavirus was the agent most commonly observed (26 to 83%), followed by adenoviruses (8 to 27%, respiratory and enteric combined), and small round viruses (SRVs) (0 to 40%) which were second most common at two of the centers. Rotavirus and astrovirus detections occurred more often in the winter but seasonal trends in detection were not apparent for the other viruses. Of all astroviruses detected 64% were found in infants (less than 1 year); unlike the other agents studied SRVs were detected in a large percentage of infants (48%) and older children and adults (20%). Among hospitalized patients a majority of all astroviruses, caliciviruses and SRVs were detected 7 days or more after admission in contrast to both rotaviruses and adenoviruses which were more likely to be detected earlier. The data suggest that SRVs are common agents of gastroenteritis and may be important causes of nosocomial infections. Because of the relative insensitivity of direct electron microscopy as a screening method for SRVs, astroviruses and caliciviruses, these data probably underestimate the true prevalence of disease caused by these agents.