Infantile umbilical hernia tape fixation method without compression materials.

Background: Compression therapy using compression material is often used for umbilical hernias in infants; however, there are problems regarding its use, such as appearance and cost. In our hospital, we use the tape fixation method without compression materials. We report the effectiveness of this method, its significance in measuring the degree of hernia bulge before treatment, and parent satisfaction with the treatment. Methods: We analyzed 77 cases of umbilical hernias (41 boys and 36 girls, mean age 52.7 ± 18.3 days) that were treated with the tape fixation method at the Department of Pediatrics of our hospital. Hernia size was classified based on the height of the bulge: mild (<1 cm), moderate (1≦ and <3 cm), or severe (>3 cm). Treatment duration was compared between the groups using the Steel-Dwass test. After the treatment, a questionnaire was mailed to the parents to assess the treatment satisfaction. Results: Seventy-three patients (94.8%) achieved closure of the hernia orifice, with no excess skin and a well-shaped umbilicus. The duration of treatment was significantly shorter, with the following order: mild (18.5 ± 8.2 days), moderate (25.0 ± 11.9 days), and severe cases (47.8 ± 11.7 days). According to the questionnaire, 97.5% of the parents were satisfied with the treatment. Conclusions: Our tape fixation method without compression material achieved a high closure rate and a good shape of the umbilicus. In addition, we noted that the height of the hernia bulge can be used as a guide to estimate the duration of treatment.

Biopsy-proven myocardial sequels in Kawasaki disease with giant coronary aneurysms.

BACKGROUND: Although most Kawasaki disease with giant coronary aneurysms is asymptomatic, conventional investigations might not identify previous lesions, or all Kawasaki disease with giant aneurysms at risk of future myocardial lesions. We evaluated the long-term histopathology of the myocardium, especially of intramural small vessels in asymptomatic Kawasaki disease with giant aneurysms. METHOD: The initial study comprised 16 consecutive Kawasaki patients - male-to-female ratio was 12:4 - aged from 2 to 12 years, and in the subsequent study, the same patients were aged from 4.9 to 16 years. Endomyocardial biopsies were histopathologically evaluated. Microangiopathies, mitochondrial abnormalities, and loss or disarray of myofibrils were compared by electron microscopy. RESULTS: The incidence of histopathological abnormalities such as degeneration, hypertrophy, and inflammatory cell infiltration was quite high in the initial study, and inflammatory cell infiltration, interstitial fibrosis, and disarray were very noticeable at follow-up biopsies. The area of fibrous tissue was significantly higher in patients administered with intravenous immunoglobulin at follow-up biopsies. Electron microscopy showed microangiopathies including microthrombi within intramural small vessels in some patients at follow-up biopsies. The sites of the coronary aneurysms did not seem to have an impact on the biopsy findings, suggesting that the underlying pathophysiology is related to the original disease process. CONCLUSIONS: Whether the abnormalities were due to direct myocardial injury, chronic ischaemia, repeated small-vessel thrombosis, or other problems associated only with biopsies, is difficult to determine. However, this subgroup had residual abnormal lesions in the myocardium. Follow-up should be more aggressive in this group of patients to identify myocardial damage that could be asymptomatic.

Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.

Marfan syndrome (MFS) is an autosomal dominant disorder of the extracellular matrix. Allelic variations in the gene for fibrillin-1 ( FBN1) have been shown to cause MFS. To date, over 550 mutations have been identified in patients with MFS and related connective tissue diseases. However, about a half of MFS cases do not possess mutations in the FBN1 gene. These findings raise the possibility that variants located in other genes cause or modify MFS. To explore this possibility, firstly we analyzed FBN1 allelic variants in 12 Japanese patients with MFS, and secondly we analyzed fibrillin-3 gene ( FBN3) in patients without FBN1 mutations using conformation sensitive gel electrophoresis (CSGE) and direct sequencing analysis. We identified three novel FBN1 mutations and ten FBN3 single nucleotide polymorphisms (SNPs). In this report, we could not detect a responsible mutation of the FBN3 gene for MFS. Although the number of the cases in this report is small, at least these results suggest that disease-causing mutations in exon regions of the FBN3 gene are very rare in MFS.