Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics.

In Sapporo, Japan, a neonatal screening program for congenital hypothyroidism (CH) has employed measurement of free thyroxine (T4) and TSH in the same filter-paper blood spot. This system has enabled us to identify primary CH and central CH during the neonatal period. The aim of this study was to clarify the prevalence and clinical characteristics of central CH. For this purpose, the screening program requested serum from infants with free T4 concentrations below the cut off value regardless of the TSH levels. Between January 2000 and December 2004, 83,232 newborns were screened and six central CH patients were detected as a result of follow-up of low free T4 and non-elevated TSH screening (1:13,872). This frequency is higher than in other studies. Four patients showed multiple pituitary hormone deficiency with pituitary malformations on magnetic resonance imaging. One patient was diagnosed as having Prader-Willie syndrome. The remaining patient was considered to have isolated central CH. Our study demonstrated that the frequency of central CH is 1:13,872. Free T4 measurement would also be advantageous in early recognition of multiple pituitary hormone deficiency.

Efficacy of antibiotic prophylaxis for intrafamilial transmission of group A beta-hemolytic streptococci.

BACKGROUND: The role of chemoprophylaxis for household contacts of patients with acute streptococcal disease is uncertain. METHODS: The subjects were 1440 sibling contacts of 1181 index patients with group A beta-hemolytic streptococcal (GABHS) pharyngitis. Instances of subsequent GABHS pharyngitis in sibling contacts who received chemoprophylaxis and in a control group without prophylaxis were compared. RESULTS: Of the 948 siblings in the prophylaxis group, 507 were treated with cephalosporins and 441 were treated with penicillins for 3 to 5 days. Subsequent GABHS pharyngitis occurred within 30 days in 28 (3.0%) of the 948 siblings in the prophylaxis group and in 26 (5.3%) of the 492 siblings in the control group. Among siblings in the prophylaxis group, subsequent GABHS pharyngitis occurred in 9 (1.8%) of the 507 siblings in the cephalosporin prophylaxis group and in 19 (4.3%) of the 441 siblings in the penicillin prophylaxis group. When these data were each compared with that in the control group (5.3%), a significant statistical difference was seen in the cephalosporin prophylaxis group (P = 0.003) but not in the penicillin prophylaxis group (P = 0.542). Only 5-day cephalosporin prophylaxis showed significant reduction in the rate of subsequent GABHS pharyngitis compared with that in the control group (P = 0.002). CONCLUSIONS: In view of the low incidence of subsequent GABHS pharyngitis in the nonprophylaxis group, the usual self-limited nature of GABHS pharyngitis, the cost of prophylaxis and the risk for selecting resistant flora, routine chemoprophylaxis against GABHS pharyngitis for sibling contacts is not recommended.

Five new genome types of adenovirus type 37 caused epidemic keratoconjunctivitis in Sapporo, Japan, for more than 10 years.

Human adenovirus type 37 (HAdV-37) is a major cause of epidemic keratoconjunctivitis and has recently been the largest causative agent of keratoconjunctivitis in Japan. To investigate the genetic characteristics of HAdV-37 strains isolated in Sapporo, we analyzed the genome types and genetic relationships of 51 strains isolated there from 1990 through 2001. By using DNA restriction analysis, eight genome types (HAdV-37/D1, HAdV-37/D3, and HAdV-37/D6 to HAdV-37/D11) were identified, including five new ones. The restriction fragments of these genome types shared more than 95% identity with those of the prototype strain. By DNA sequence analysis, five and three single nucleotide substitutions, respectively, were found in partial sequences of the hexon and fiber genes. The combinations of mutations resulted in four hexon and fiber types (hx1 to hx4 and f1 to f4) and six hexon/fiber pairs (hx1/f1, hx2/f1, hx1/f2, hx1/f3, hx3/f4, and hx4/f4). The six pairs correlated well with certain genome types. In all three epidemics of keratoconjunctivitis to strike Sapporo in the past 12 years, specific genome types and fiber types were usually isolated: in the first epidemic, HAdV-37/D1 (f1) and HAdV-37/D3 (f1); in the second, HAdV-37/D6 (f2) and HAdV-37/D8 (f3); and in the third, HAdV-37/D10 (f4) and HAdV-37/D11 (f4). We conclude that mutations in the adenovirus genome occurred chronologically and that certain mutations were correlated with the epidemics of adenoviral keratoconjunctivitis.

Phenotypic and genotypic characterization of beta-D-glucuronidase-positive Shiga toxin-producing Escherichia coli O157:H7 isolates from deer.

Beta-glucuronidase-positive (GUD+) Shiga toxin-producing Escherichia coli (STEC) O157:H7 was isolated from both an asymptomatic woman and uncooked deer meat in her possession in Hokkaido, Japan. The phenotypic and genotypic characteristics of the two isolates were identical or closely related, indicating probable transmission of the deer isolate to the woman. Moreover, several other GUD+ STEC O157:H7 strains investigated belonged to the distinct atypical GUD+ STEC O157:H7 group that has been identified previously. This is the first report that deer can be a reservoir of GUD+ STEC O157:H7 in Japan.

[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients].

OBJECTIVE: To investigate the clinical and neurodevelopmental profiles of patients with biotinidase deficiency and to determine the efficacy of current therapy with respect to outcome. METHODS: Six patients aged from 3 months to 14 years with biotinidase deficiency were confirmed by urinary organic acid analysis with gas chromatography/mass spectrometry (GC/MS) and biotinidase assay on dried blood spots. Biotin was supplemented individually (10-40 mg/d). Their clinical features, laboratory findings, and treatment regimen were reviewed. RESULTS: All the 6 patients presented with some extent of neurological abnormalities and dermatological lesions. Cases 1 - 3 had poor feeding, vomiting, seizures, mental retardation, and lethargy onset from their early infancy, with varied degree of anemia, ketosis, acidosis, and hypoglycemia. Case 2 exhibited eczema and dermatitis from his age of 7 months. Case 4 displayed motor deficit and ataxia after 6 months of age, and generalized pustular psoriasis when he was 8 months old. Cases 5 and 6 gradually showed muscle weakness and paraplegia at the age of 7 years and 5 years, respectively. Inflammatory demyelination changes of cervical cord were evident on magnetic resonance imaging in these two patients. Case 6 had progressive optic atrophy, eczema and alopecia. Remarkable elevations of urinary lactate, pyruvate, 3-OH-propionate, methylcitrate, propionylglycine, 3-OH-isovalerate, 3-methylcrontonylglycine were confirmed in cases 1, 2, 3 and 5. Slight increase of urinary lactate, pyruvate, and 3-methylcrontonylglycine was observed in cases 4 and 6. Biotinidase activities assayed on dried blood spots from all the patients were below 0.1 pmol/(min.3 mm) Biotin supplementation for all the patients, except for case 3 who was not treated, resulted in pronounced and rapid clinical and biochemical improvement. Cases 4 and 6 had residual neurological damage comprising ataxia and motor handicap of legs, due to prolonged disease course. CONCLUSIONS: Biotinidase deficiency intensively impairs nervous system and skin in the affected patients. Urinary organic acid analysis and blood biotinidase assay are crucial to the diagnosis. Early diagnosis and biotin supplementation can contribute significantly to the improvement of prognosis.

Molecular epidemiology of methicillin-resistant Staphylococcus aureus in a pediatric ward.

BACKGROUND: Nosocomial infections caused by methicillin-resistant Staphylococcus aureus (MRSA) are one of the most serious problems in pediatric wards. Epidemiological analysis of strains isolated in the ward is essential for infection control. There have been few reports in which a molecular epidemiological study of MRSA was performed in pediatric wards. METHODS: Fifty-six MRSA strains isolated in the pediatric ward of Asahikawa Medical College Hospital between 1995 and 1997 were studied. Fifty-two and four isolates were obtained from 27 patients and from two medical staff members, respectively. Forty-one isolates were regarded as colonizing strains and 15 were causes of infections. Genotypes of the isolates were investigated by pulsed-field gel electrophoresis (PFGE). RESULTS: The PFGE patterns of 56 isolates were classified into nine types: type A, its subtypes, A1 and A2, and types B through to G. Seventeen isolates were type A, 32 were type A1, and one of each type of A2 and B through to G were identified. Fifty of 56 isolates, which were isolated from 24 of 29 cases, belonged to type A or its subtypes. CONCLUSIONS: The predominant strain of MRSA isolates in the pediatric ward was a certain strain that may be originated from the one clone. Cross-infection control therefore is the major procedure in the prevention of MRSA dissemination in the ward.