Rhabdomyolysis associated with human parvovirus B19 infection in a patient with Fukuyama-type congenital muscular dystrophy.

Patients with Fukuyama-type congenital muscular dystrophy sometimes experience transient exacerbations of muscle weakness. We took care of a 9-year-old boy with Fukuyama-type congenital muscular dystrophy who presented with acute respiratory failure and decreased exercise ability with marked elevation of serum creatine kinase indicating rhabdomyolysis. At that time, his younger sister suffered from erythema infectiosum. Although he had no particular symptoms, he was tested and proven to have acute human parvovirus B19 infection based on detection of anti-B19 IgM and parvovirus B19 DNA in his serum. His acute rhabdomyolysis was possibly triggered by human parvovirus B19 infection.

Outpatient basis extracorporeal shock wave lithotripsy for ureter stones: efficacy of the third generation lithotripter as the first line treatment.

AIM: We assessed the efficacy of a third generation extracorporeal shock wave lithotripsy (ESWL) machine for ureter stones using the Dornier Lithotriptor Compact Delta. METHODS: A total of 471 consecutive ureter stones were treated with ESWL using the Dornier Lithotriptor Compact Delta from December 2001 on an outpatient basis. Four hundred and one cases were followed up at least once after the procedure and were included in this study. All of the cases, except one patient who was three years old, were treated without anesthesia, and the procedure was principally performed on outpatient basis. RESULTS: The overall stone free rate was 94.5% and the mean number of treatment sessions was 1.23. The stone free rates were compared considering various clinical factors and significant differences were observed in the stone length, the stone location and the sex in univariate analysis. However, only the stone length maintained a statistically significant impact in multivariate analysis and the stone free rates were 91.2% and 98.0% respectively in larger stones (length 10mm) and smaller stones (length < 10mm) (p = 0.004). In mid-distal stones, the stone free rate was higher than that of proximal stones (97.5% vs 92.6%, p = 0.04) and not affected by stone length. CONCLUSIONS: Extracorporeal shock wave lithotripsy performed by the third generation machine achieved an excellent stone free rate with a relatively small number of treatment sessions. This procedure is strongly recommended as the first line therapy for all ureter stones including mid-distal ones.

[Non-radioactive PCR southern method for analysis of CTG repeat in myotonic dystrophy].

Myotonic dystrophy (MyD) is a hereditary neuromuscular disorder of an autosomal dominant trait. MyD is caused by an expansion of unstable CTG trinucleotide repeat in the 3' untranslated region of mRNA coding myotonin protein kinase (MT-PK). We analyzed CTG repeat expansion in 10 patients with congenital MyD and their relatives using the non-radioactive PCR Southern method. The region containing the CTG repeat was amplified by PCR using specific primers. The PCR products were electrophoresed on a 1% agarose gel and transferred to a nylon membrane. The CTG repeat expansion was shown using a fluorescein-labelled (CTG) 10 probe. To estimate the number of CTG repeats, we compared the smears obtained on Southern blotting with a picture of PCR products and a DNA size marker (100 bp). We compared our results of radioactive Southern blotting for genomic DNA digested by Eco RI or Bgl I and for PCR products. In congenital MyD patients, heterogeneous smears (3.89-10.22 kb:about 1252-3362 CTG repeat) were observed, whereas in the adult type MyD had heterogeneous smears (0.92-1.82 kb:about 262-562 CTG repeat). In asymptomatic MyD patients, there were heterogeneous smears (0.35-1.16 kb:about 72-342 CTG repeat). These results demonstrated anticipation. We conclude that the non-radioactive PCR Southern method is useful and convenient for the DNA diagnosis of MyD.