Central core disease--a case report.

Central core disease is a rare congenital myopathy characterized by the formation of "cores" that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gastrocnemius muscle biopsy showed central cores in over 80% of the fibers on H&E section. Histochemistry revealed deficient or absent mitochondrial enzyme in the cores and type I predominance. Ultrastructurally both structured and non-structured cores were found separately or simultaneously in one fiber. This case is the first report in the Korean literature.     

Takayasu's arteritis: diagnostic considerations and surgical treatment

A 20-year-old white woman with Takayasu's arteritis had headaches, neck soreness, and a right carotid bruit. Corticosteroid treatment only temporarily relieved symptoms and caused Cushing's syndrome because of high dosage requirements. Progressive narrowing of the right common carotid artery occurred despite treatment. The diseased portion of the artery was successfully resected and replaced by a Dacron graft. Corticosteroid treatment was then tapered and discontinued, and the patient has remained well for 3 years. Carotid Doppler and real-time ultrasound studies performed more than 2 years after surgery showed a patent graft and no new disease process. This technique may be of value in selected cases for both prevention of cerebral ischemia and the elimination of local symptoms of the inflammatory process.     

Early characteristic findings in bowleg deformities: evaluation using magnetic resonance imaging

We used magnetic resonance imaging (MRI) to evaluate bowleg deformities in infancy. Twenty-five tibiae of 13 infants were examined and divided into two groups based on MRI findings: group A had high intensity area in the medial epiphyseal cartilage on T2-weighted images. Group B had depression of medial physis and abnormal signal in the perichondrial region in addition to the epiphyseal lesion. At the final follow-up, all cases in group A demonstrated normal lower leg alignments, whereas five cases in group B showed characteristic roentogenographic findings of Blount's disease. The improvement rate of metaphyseal-diaphyseal angle was correlated with this classification. These findings suggested that abnormal findings in physis and perichondrial region might be preliminary findings in early stage of Blount's disease. The high intensity areas in the medial epiphyseal cartilage were commonly found among the cases with bowing deformities, which suggested that there might be a common pathomechanism between physiologic bowing and infantile Blount's disease.     

Cutaneous Rosai-Dorfman disease--a pathologic review of 2 cases

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare but distinct clinicopathologic entity characterised histologically by a benign s histiocytic proliferation. Isolated involvement of extranodal sites without concomitant nodal disease is rare. We describe the pathological features of 2 cases of Rosai-Dorfman disease that were clinically confined to the skin. In both male adult Chinese patients, proliferation of histiocytes was accompanied by S-100 protein expression demonstrated immunohistochemically within the histiocytes. The pathology of Rosai-Dorfman disease and its microscopic differential diagnoses are discussed.     

Actual half-life of alpha-fetoprotein as a prognostic tool in pediatric malignant tumors

In a retrospective study, the prognostic value of monitoring the decay of alpha-fetoprotein (AFP) was assessed. Serum AFP was determined serially in 18 children with malignant germ-cell or hepatic tumors: 7 endodermal sinus tumor, 3 embryonal carcinoma, 5 malignant teratoma, 2 hepatoblastomas, and 1 hepatocellular carcinoma. The actual half-life (AHL) of AFP was computed after surgical resection of the tumor. In group 1, which had complete resection and no recurrence during follow-up (n = 13), the AHL of AFP was 4.0 ± 0.9 days. In group 2, which had incomplete resection or recurrence during follow-up (n = 5), the AHL of AFP was 24.8 ± 20 days, significantly longer than that of group 1 (P = 0.0026). The increased AHL of AFP indicated residual active tumor after surgical resection. The AHL of AFP may be more sensitive than serial monitoring of AFP in detecting preclinical recurrence after surgical resection of AFP-secreting tumors. Treatment strategies can be based on AFP clearance, and prospective clinical trials are warranted.     

Tailgut cyst in a neonate

Tailgut cyst is a rare lesion of developmental origin located in the retrorectal space, which usually presents as a multilocular cystic mass. It is usually found in adults, and neonatal cases are extremely rare. The authors report a tailgut cyst in a neonate that was found by prenatal ultrasonogram, which was like a teratoma in gross appearance.     

Overweight and obesity-related metabolic disorders in hospital employees.

BACKGROUND: Obesity is associated with metabolic disorders and cardiovascular diseases. This study investigated the relationship between overweight and obese status and the incidence of type 2 diabetes, hypertension, hyperlipidemia and hyperuricemia. METHODS: This prospective cohort study comprised 1749 hospital employees who received baseline health check-ups in 1993. Data from the 1027 participants (832 women, 195 men; mean age, 36 +/- 7 years) who repeated check-ups in 2003 were used in the analysis. Relative risks (RRs) for development of metabolic disorders during follow-up associated with different body mass index (BMI) categories at baseline as defined by Asia-Pacific recommendations and the Department of Health in Taiwan were calculated after adjustment for covariates. RESULTS: The prevalence of overweight and obesity at baseline check-up were 17.6% and 14.5%, respectively. Obese subjects with baseline BMI >or= 25 kg/m2 had a significant multivariate-adjusted RR of 2.7 for hypertension, 14.8 for type 2 diabetes, 3.2 for hypertriglyceridemia, and 2.8 for hyperuricemia, compared to subjects with baseline BMI < 23.0 kg/m2. RR for diabetes was higher in women than in men, but RR for hypertriglyceridemia was higher in men. The risks of hypertension and hyperuricemia significantly increased for subjects with baseline BMI >or= 23 kg/m2, while RRs for type 2 diabetes increased significantly for baseline BMI >or= 24 kg/m2 and hypertriglyceridemia increased for baseline BMI >or= 25 kg/m2. The risks attributable to obesity (baseline BMI >or= 25 kg/m2) were 23.0% for hypertension, 70.8% for diabetes, 27.9% for hypertriglyceridemia, and 24.1% for hyperuricemia. CONCLUSION: This study revealed that a high prevalence of overweight and obesity was associated with significantly increased risk of development of type 2 diabetes, hypertension, hypertriglyceridemia and hyperuricemia in hospital employees, suggesting the need for programs to improve weight management.