Faecal clearance of α1-antitrypsin reflects disease activity and correlates with rapid turnover proteins in chronic inflammatory bowel disease

Faecal clearance of alpha 1-antitrypsin was measured in patients with ulcerative colitis and Crohn's disease and compared with disease activity and markers of protein-calorie malnutrition. Patients with active ulcerative colitis and Crohn's disease showed elevated clearance of alpha 1-antitrypsin and clearance declined in most patients with induction of remission. However, even with inactive disease, elevated protein loss persisted in some patients, presumably reflecting residual inflammation in the intestinal mucosa. There was a significant correlation between clearance of alpha 1-antitrypsin and serum levels of retinol-binding protein and transferrin in patients with ulcerative colitis and with retinol-binding protein in patients with Crohn's disease. Clearance of alpha 1-antitrypsin reflects disease activity in inflammatory bowel disease and correlates with serum levels of rapid-turnover proteins such as retinol-binding protein and transferrin, which are markers for the presence of protein-calorie malnutrition.     

Haemophagocytic lymphohistiocytosis in association with granular lymphocyte proliferative disorders in early childhood: characteristic bone marrow morphology

Five paediatric cases of haemophagocytic lymphohistiocytosis (HLH) which showed proliferation of granular atypical lymphocytoid cells in bone marrow are reported. All cases were girls aged 8 months to 4 years who had marked hepatosplenomegaly. Marker analysis on peripheral blood mononuclear cells revealed an increase in the CD3⁺HLADR⁺ subset in three cases and the CD³⁻CD56⁺ subset in one case. An Epstein-Barr virus genome was detected in three cases, and monoclonality was confirmed in two cases. A characteristic morphology of large granular lymphocytes (LGL) was identified, with elongated bizarre features that resembled horsetail-, tadpole-, cucumber- or shooting star-type configurations on the bone marrow smear. Serum concentrations of soluble interleukin-2 receptor and interferon-gamma were elevated in all cases. All five cases required multi-agent chemotherapy which resulted in two complete remissions, two partial remissions and one no response. Refinement of treatment is required for these paediatric GLPD cases which probably comprise a specific high-risk subgroup among secondary HLH patients which had previously escaped notice.     

Urinary oxidative stress markers in young patients with type 1 diabetes

BACKGROUND: Involvement of oxidative stress in the pathogenesis of diabetic vascular complications has been proposed. However, there are few methods to determine the status of oxidative stress both directly and quantitatively in young patients with type 1 diabetes. METHODS: A total of 27 young patients with type 1 diabetes (mean age +/- SD, 12.6 +/- 4.2 years) with normal renal function and 38 healthy control subjects (13.0 +/- 4.6 years) were investigated. Early morning voiding urine samples were collected. The concentrations of acrolein-lysine adducts, 8-hydroxy-2'-deoxyguanosine (8-OHdG) were determined using competitive enzyme-linked immunosorbent assay, and nitric oxide metabolites were measured using the colorimetric, non-enzymatic assay. RESULTS: Urinary concentrations of 8-OHdG, but not acrolein-lysine adducts and nitric oxide metabolites, were significantly increased in the diabetic group. For diabetic patients, microalbuminuria was significantly correlated with higher concentrations of all three markers. Hemoglobin A(1c) values were significantly correlated with 8-OHdG values. CONCLUSIONS: These findings indicate that increased oxidative stress and the risk of vascular complications may be present at early stages of type 1 diabetes.     

Lingual cyst in infancy: Importance of palpation for diagnosis

Two infants, 5 and 12 weeks of age, with lingual cysts were presented. Histological findings were compatible with a salivary retention cyst in one and a thyroglossal duct cyst in the other. Both infants were admitted to our hospital because of severe stridor that had developed from one to two weeks of age. Their lingual cysts were easily recognizable by simple palpation and were confirmed by non-invasive imaging techniques, such as ultrasound sonography, computed tomography and magnetic resonance imaging. Lingual cyst in infancy may be large enough to cause stridor and dyspnea, and occasionally result in sudden infant death, although once diagnosis is made a radical operation can be easily performed. Therefore, it is important that palpation in the oral cavity should be performed with all infants with persistent stridor as a part of a physical examination.     

Mononucleosis-like illness in an infant associated with human herpesvirus 6 infection

Illnesses resembling mononucleosis, hematologically characterized by atypical lymphocytosis in the peripheral blood, are caused by other viral infections as well as by a primary Epstein-Barr virus infection. Human herpesvirus 6, a newly isolated member of the herpesvirus group, can also cause a mononucleosis-like illness. Illness associated with human herpesvirus 6 infection mostly occurs in immunocompetent adults. We observed a 3 month old infant who presented with marked atypical lymphocytosis and liver dysfunction. We examined serum samples to detect viral antibodies related to mononucleosis-like illness. Only the titers of antibody against human herpesvirus 6 were elevated. Primary human herpesvirus 6 infection cannot only cause exanthem subitum or present in an inapparent form but can also cause an illness like mononucleosis, even in an infant.     

Detection of Philadelphia Chromosome in Chronic Neutrophilic Leukemia

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferativedisorder, differentiated from chronic myelogenous leukemia byseveral features. A case of CNL which was found by long-termculture to involve the Philadelphia chromosome is reported.     

Growth of patients with congenital hypothyroidism detected by neonatal screening in Japan

BACKGROUND: The growth of patients with congenital hypothyroidism detected by neonatal screening in Japan was investigated. The data investigated were obtained from Medical Aid Program for Chronic Pediatric Diseases of Specified Categories registered in 2002. METHOD: The present study included 2341 patients (1030 male, 1311 female) registered as having congenital hypothyroidism. To investigate the growth of these patients, their heights plotted on cross-sectional growth charts for boys and girls, their bodyweights expressed as percentage of bodyweight for height and the frequency distribution of percentage of bodyweight for height were assessed. RESULTS: Cross-sectional growth charts of both male and female patients showed that the heights of the majority of the patients with congenital hypothyroidism were within +/-2SD. Approximately half of the patients with heights below -2SD, had some complications. The mean percentages of ideal bodyweights for height were 103.0 +/- 12.9% for both sexes (+/-SD, n = 2033), 103.3 +/- 12.7% for boys, and 102.7 +/- 12.9% for girls. The frequency distribution of percentage of bodyweight showed no tendency of shifting to either ends in comparison with normal distribution curve. CONCLUSION: Patients with congenital hypothyroidism detected by neonatal screening had normal growth in general, suggesting that the neonatal screening system is being performed efficiently from detection to treatment of the disease in Japan. However, it remains unclear whether some uncomplicated patients with a height below -2 SD are sufficiently treated or not. Close observation of these patients may be needed.     

A Case of Cardiac Foreign Bodies Associated with Four Types of Tachycardias

A case of cardiac foreign bodies leading to development of four varieties of automatic tachycardia is reported. A 51-year-old male with aortic regurgitation was admitted to our hospital because of palpitations. An electrocardiogram revealed junctional tachycardia with or without left bundle branch block, and two types of fascicular tachycardias. Computed tomography showed metallic foreign bodies from a fractured guidewire in the membranous portion of the interventricular septum, which was inadvertently retained when he underwent diagnostic cardiac catheterization at the age of 27.     

Successful Prevention of Recurrent Ventricular Fibrillation by Intravenous Isoproterenol in a Patient with Brugada Syndrome

TANAKA, H., et al. : Successful Prevention of Recurrent Ventricular Fibrillation by Intravenous Isoproterenol in a Patient with Brugada Syndrome. Intravenous administration of isoproterenol restored the ST-segment configuration to nearly normal in the right precordial leads and completely prevented spontaneous VF attacks in a patient with Brugada syndrome. The formation of a Brugada-type ECG has been attributed to the transmural dispersion of repolarization of the right ventricular epicardium and related to modulation of the autonomic nervous system. Our case may provide clues to the pathophysiological mechanism of this syndrome.