Mitsuaki Tokumura

Frequent association of 22q11.2 deletion with tetralogy of Fallot

Chromosome 22q11.2 deletion causes DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy of Fallot (TOF), and sporadic or familial TOF. To determine the prevalence and clinical importance of the 22q11.2 deletion in TOF, a series of 212 Japanese TOF patients was studied. The type of pulmonary blood supply, which may lead to various clinical outcomes, and other additional anomalies were evaluated clinically. The 22q11.2 deletion was diagnosed by fluorescence in situ hybridization with N25 and TUPLE1 probes. Of the 212 patients examined, 28 (13%) had a 22q11.2 deletion, the frequency being higher than that in TOF patients with trisomy 21. The prevalence of the deletion in TOF patients with pulmonary atresia (PA) plus major aortico-pulmonary collateral arteries (MAPCA) was significantly higher than the value in patients with PA plus patent ductus arteriosus (PDA) (P = 0.04) or with pulmonary stenosis (PS) (P < 0.0001). All 28 patients with 22q11.2 deletion had one or more extracardiac abnormalities. Four of 9 patients with the 22q11.2 deletion and TOF-PA-MAPCA suffered from bronchomalacia, while none of 19 patients with TOF-PA-PDA or TOF-PS manifested bronchomalacia (P = 0.006). These results indicate that 22q11.2 deletion is the most frequent cause of syndromic TOF, especially for TOF-PA-MAPCA, and bronchomalacia is the clinically most important associated anomaly in TOF-PA-MAPCA patients.

Prescribed exercise training improves exercise capacity of convalescent children and adolescents with anorexia nervosa

Anorexia nervosa (AN) has a complex pathogenesis resulting sometimes during childhood and adolescence in potential severe complications. Abnormal exercise capacity, which may result from long-term malnourishment and restriction of physical activities for many months, has been observed in the majority of such patients, ever after weight regain. It is widely believed that physical activities may improve exercise capacity and the emotional disorder. However, controversy exists about promoting or withholding exercise [4]. Previous studies reported that excessive exercise may play a role as a causal factor of AN and might be associated with a poor evolution [2, 3]. The use of exercise training as a treat

Behçet's disease presenting with a right atrial vegetation

Behçets disease (BD) is difficult to diagnose in children because patients often do not have characteristic symptoms and pediatricians have a low awareness of BD. We report on the case of BD in a 12-year-old boy that presented as endocarditis. Prednisolone, started after infective endocarditis had been ruled out, had a dramatic effect. Cardiac involvement in BD and the differential diagnosis of endocarditis are discussed.

Influenza Vaccination of Schoolchildren and Influenza Outbreaks in a School

BACKGROUND The objective of this retrospective descriptive study was to determine whether the universal influenza vaccination for schoolchildren was effective in controlling influenza outbreaks in a school. A universal vaccination program for schoolchildren was started in Japan in the 1960s, but the government abandoned the program in 1994 because of lack of evidence that the program was effective in preventing influenza in schoolchildren. METHODS Influenza vaccine coverage rates, total numbers of class cancellation days, and absentee rates were reviewed in a single elementary school during the 24-year period during 1984-2007. RESULTS The mean number of class cancellation days and the mean absentee rate in the compulsory vaccination period (1984-1987; mean vaccine coverage rate, 96.5%) were 1.3 days and 2.5%, respectively, and they increased to 8.3 days and 3.2% during the quasi-compulsory vaccination period (1988-1994; vaccine coverage, 66.4%). In the no-vaccination period (1995-1999; vaccine coverage, 2.4%), they were 20.5 days and 4.3%, respectively, and in the voluntary vaccination period (2000-2007; vaccine coverage, 38.9-78.6%), they were 7.0-9.3 days and 3.8%-3.9%. When minor epidemics were excluded, there was a significant inverse correlation between the vaccine coverage rates and both the number of class cancellation days and absentee rates. CONCLUSIONS The universal influenza vaccination for schoolchildren was effective in reducing the number of class cancellation days and absenteeism in the school.

Ventricular septal defect associated with microdeletions of chromosome 22q11.2.

Microdeletions of chromosome 22q11.2 (del.22q11) cause DiGeorge syndrome, velo‐cardio‐facial syndrome, and conotruncal anomaly face syndrome, which are commonly associated with conotruncal heart anomalies. Approximately 15% of the patients manifest ventricular septal defect (VSD), and the conal–septal type of VSD has been proposed to be associated with del.22q11, since it is categorized as a conotruncal anomaly. However, the types of VSD associated with del.22q11 remain poorly studied. The purpose of this study is to assess whether conal–septal VSD or other types of VSDs are associated with del.22q11. We analyzed the chromosomes of 22 consecutive patients with conal–septal VSD, prospectively, and evaluated the types of VSD observed in 3 patients with del.22q11, retrospectively. Del.22q11 was not detected in any of the 22 patients with conal–septal VSD. All the VSDs observed in the 3 patients with del.22q11 were a perimembranous type of VSD, which is not a conotruncal anomaly. Our results suggest that perimembranous VSD can be associated with del.22q11, but del.22q11 is not a common cause of conal–septal VSD.

Vasculitis associated with septicemia: case report and review of the literature.

Abstract. We report an unusual case in which infectious endocarditis presented systemic vasculitis and glomerulonephritis as the initial manifestation of the disease. The patient was a 16-year-old girl with congenital cyanotic heart disease who presented with skin purpura, proteinuria, and hematuria. She had hypergammaglobulinemia, cryoglobulinemia, and positive circulating immune complexes. Renal biopsy revealed crescentic glomerulonephritis. Her serum C3 level, which was initially normal, became decreased, and prednisolone and azathioprine were administered with a tentative diagnosis of systemic lupus erythematosus (SLE). Soon after, she developed fever and renal failure. Blood culture grew Streptococcus pyogenes, and the diagnosis of infectious endocarditis was made. Eight cases of systemic vasculitis and glomerulonephritis associated with infectious endocarditis have been described in the literature. Infectious endocarditis should be included in the differential diagnosis of systemic vasculitis and glomerulonephritis.

Cryptococcal meningitis in an immunocompetent child

An immunocompetent child infected with cryptococcal meningitis was cured without any sequelae or relapse with six months of antifungal treatment. An 11-year old Japanese boy who presented with headache and vomiting without high fever was admitted to a local hospital with a diagnosis of aseptic meningitis and discharged after symptomatic relief. Cryptococcus neoformans was later detected in the cerebrospinal fluid (CSF) culture and he was referred to our hospital. His physical and neurological examination was unremarkable except for a mild stiff neck. Cryptococcus neoformans was detected in an India ink stain and culture of the CSF upon admission (Fig. 1), and the cryptococcal antigen with latex agglutination was positive. CSF revealed leukocytosis, increased protein and high opening pressure with normal glucose (53 mg/dl) (Fig. 2). Blood leukocyte count was 7600/ll. Although chest Xray was normal, CT revealed mild peribronchial inflammation in the left lower lobe (S7). An enhanced head MR imaging was negative. The initial treatment with intravenous amphotericin B (AMPH-B) and oral flucytocin (FC) was discontinued after ten days due to fever and skin rash: fluconazole (FLCZ) was administered orally for six months thereafter (Fig 2). No relapses or sequelae have been observed. A detailed developmental and medical history was unremarkable except that he had a history of repeated hospitalizations for asthma until eight years of age. It is noteworthy that he had occasionally been exposed to guano of wild pigeons. His humoral and cellular immunological parameters (CD4 900/ll, CD4/8 2.25), complement and neutrophil functions were normal. Anti-HIV antibody was negative. Although cryptococcal meningitis is uncommon among HIV-negative patients [1, 2, 6, 7, 8], severe pediatric cases have been reported [3, 4]. We infer that, in the case reported here, a pulmonary cryptococcal infection was the primary lesion preceding meningitis because of the exposure to guano of pigeons, repeated

Influences of mothers' dieting behaviors on their junior high school daughters.

We investigated the influences of mothers’ dieting behaviors on their junior high school daughters. We assessed dieting behaviors and eating habits in 221 pairs of mothers and their junior high school daughters using questionnaires. The subjects were classified into an extraordinary-diet (Ex-D) group, who attempted to diet rapidly with unhealthy methods, a structured-diet (St-D) group, who attempted to diet gradually with healthy methods, and a non-diet (N-D) group, using the questionnaire scores. 1) A significant correlation was observed in the distribution of dieting behavior groups between the mothers and their daughters. 2) The scores for dieting behavior of the mothers whose daughters were classified into the Ex-D group were significantly higher in several question items compared with those of the mothers whose daughters were classified into the N-D group. 3) The scores for eating consciousness of the mothers whose daughters were classified into the Ex-D group were significantly lower for the item “Cooking is a fun pastime” compared with those of the mothers whose daughters were classified into the St-D or N-D groups. 4) The number of experiences of conversation with daughters about diet for the mothers whose daughters were in the Ex-D group was significantly higher than that for the mothers whose daughters were classified into the N-D group. The mothers’ dieting behavior, eating consciousness, and number of conversations with daughters about diet influenced dieting behaviors in their junior high school daughters. Appropriate education of mothers would be useful to prevent their daughters’ inappropriate diet.

Height-specific body mass index reference curves for Japanese children and adolescents 5−17 years of age

Abstract Background : Body mass index (BMI) reference values in consideration of height variation have not previously been reported. This study established height‐specific BMI reference curves for Japanese children and adolescents aged from 5 to 17 years.

Impaired Cardiorespiratory Response to Brief Sudden Strenuous Exercise in the Postoperative Tetralogy of Fallot Patients: A Ten-Second Pedaling Test

AbstractNo studies of cardiorespiratory response to brief, sudden, strenuous exercise in patients after tetralogy of Fallot (TOF) repair have been reported. We investigated the exercise capacity of TOF patients using a ten-second pedaling test designed to study cardiorespiratory responsiveness to brief, sudden, strenuous exercise. We assessed exercise capacity using a ten-second pedaling test (ten seconds maximal of voluntary cranking as fast as possible against an ergometers inertial resistance), coupled with a conventional ramp-type progressive exercise test at a constant rate to the limit of tolerance, in eight male postoperative TOF patients and eight male control subjects. In the ten-second pedaling test, there were no significant differences in the integrated areas of heart rate (HR) and oxygen uptake () responses between the TOF patients and controls, but there were significantly longer decreasing phase time constants of HR and responses in the TOF patients than in the controls. In the conventional exercise test, the endurance time, peak-HR, and peak- did not differ between the groups. The TOF group, with a normal exercise capacity assessed by a conventional exercise test, had an impaired cardiorespiratory response to brief, sudden, strenuous exercise assessed by a ten-second pedaling test.