ABSTRACT
Three infants are described who had nemaline rods on muscle biopsy and isolated deficiency of complex I of the respiratory chain on biochemical analysis. They all manifested failure to thrive from birth, and hypotonia and muscle weakness within the first three months of life. Different genetic defects leading to isolated complex I deficiency have been described associated with a variety of morphological changes on muscle biopsy, but rods have not been described. Nemaline rods have been secondary phenomena in a number of conditions, as well as being the primary abnormality in nemaline myopathy. However, the combination of nemaline rods and complex I deficiency is an association not previously reported.
Subject(s)
Electron Transport Complex I/deficiency , Failure to Thrive/etiology , Muscle Hypotonia/etiology , Muscle Weakness/etiology , Myopathies, Nemaline/complications , Female , Humans , Infant, Newborn , MaleABSTRACT
BACKGROUND: At present extensive application of video capsule endoscopy (VCE) as the most innovative diagnostic tool for small bowel diseases is limited by its high costs. The present study describes the first experience in the mobile use of VCE in a cooperation of associated gastroenterology departments in different hospitals. METHODS: The VCE device was bought by a centrally located hospital. In the case of a need for VCE elsewhere the mobile equipment was brought to the respective hospital. The examination was done on site by local physicians, who additionally were responsible for the procedure itself. The evaluation of the VCE pictures was carried out exclusively by the Ophysicians of the central hospital. RESULTS: Within 15 months VCE was performed in 40 patients (19 male, 21 female; age 61 +/- 14 years). Ten examinations were performed in the central hospital, 30 in the associated gastroenterology departments of other hospitals. Indications for VCE were obscure GI bleeding (65 %), chronic diarrhea and Crohn's disease (17.5 %) or suspected small bowel neoplasms (17.5 %). Clinically relevant pathological abnormalities were detected in 62.5 % of the patients, mainly ulcerations and erosions. Complications were non-spontaneous capsule passage in one patient. Compared to a single hospital, the multicenter use of VCE increased the frequency of investigations four times and reduced expenses to almost 30 %. CONCLUSIONS: The mobile use of VCE makes this innovative technique available for every patient while remaining in his local gastroenterology department. Additionally, this concept accelerates amortization and improves the quality of evaluation by focusing experience.
