Late, Late-Onset Group B Streptococcus Cellulitis With Bacteremia.

Group B streptococcus (GBS) infection remains a leading cause of serious neonatal and early infantile infection. As the infection often presents with nonspecific symptoms, and is associated with underlying bacteremia, prompt investigation and treatment is required. We report a case of late, late-onset GBS infection with bacteremia in a 94-day-old boy experiencing cellulitis of the left hand. Although late-onset disease or late, late-onset disease has been reported to be common among infants with underlying conditions such as premature birth, immunocompromised status, trauma, or among those using medical devices, no such underlying medical condition predisposed this infant to invasive GBS infection. Recent reports including the present case underscore the risk of GBS infection among previously healthy infants beyond the neonatal period. Thus, clinicians should especially be aware of unusual presentations of GBS invasive disease with bacteremia.

Successful treatment of short stature with growth hormone replacement therapy in a patient with anorexia nervosa.

A 19-year-old woman visited our outpatient clinic requesting treatment for short stature. She had been repeatedly hospitalized at a psychiatric unit and was subsequently diagnosed with anorexia nervosa (AN). She was 139.3 cm (-3.6 SD) tall and weighed 25.5 kg (23% lower than standard weight). She had primary amenorrhea and her bone age (BA) was 11.8 years. She had low insulin-like growth factor (IGF)-I (80 ng/mL) and a basal growth hormone (GH) level of 1.47 ng/mL. Treatment with recombinant GH was initiated. At 22 years of age, she was 152.2 cm (-1.1 SD) tall and weighed 39.7 kg. As she had shown a favorable response to GH treatment, therapy was discontinued. We suggest that it is worthwhile treating AN patients with GH replacement therapy for short stature, once low IGF-I levels without GH resistance, delayed puberty, delay in BA, and nutritional stabilization are taken into consideration.

Protective effects of influenza A (H1N1) pandemic 2009 vaccination against the onset of influenza-like illness and asthma exacerbation in Japanese children.

BACKGROUND: Vaccination against influenza A(H1N1)pdm09 in Japan started in October 2009. Children with asthma are considered as a high-risk group and are recommended to preferentially receive the vaccine. OBJECTIVE: To identify the clinical effects of vaccination in Japanese children with and without asthma. METHODS: We conducted a cross-sectional, questionnaire-based survey to compare vaccination rates, vaccine effectiveness against physician-diagnosed influenza A infection (PDIA), and consecutive asthma exacerbations between children with and without asthma. RESULTS: Of the 460 children included in this study, those with asthma had higher vaccination rates (46.5%, 67/144) than those without asthma (30.4%, 96/316). Influenza A infections were diagnosed in 28 of 163 vaccinated children (17.2%) compared to 164 of 297 unvaccinated children (55.2%, p < 0.001). Comparison of positive influenza diagnosis rates between vaccinated and unvaccinated children with and without asthma showed that unvaccinated children with asthma had an elevated odds ratio (13.235; 95% confidence interval [CI], 5.564-32.134) and that treatment for asthma exacerbations was needed in a larger proportion of unvaccinated children. Vaccine effectiveness against PDIA was 87% (95% CI, 78-93%) overall, 92% (95% CI, 81-96%) in children with asthma and 81% (95% CI, 63-91%) in children without asthma, respectively. CONCLUSIONS: The administration of an inactivated, split-virus, non-adjuvanted monovalent A(H1N1)pdm09 vaccine during the pandemic period reduced the number of physician-diagnosed influenza A infections and asthma exacerbations in children with asthma. Therefore, we strongly recommend that high-risk children with a history of asthma receive vaccines during pandemics.

Successful treatment of ileocolic intussusception with air enema reduction in an adult patient.

Intussusception is a rare condition in adults, representing only 1% of all bowel obstructions. In adult cases, operative explorations are recommended to treat the bowel obstruction and to diagnose underlying diseases. The objective of the current case report was to describe the successful treatment of ileocolic intussusception with air enema reduction in an adult patient. A previously healthy 21-year-old woman had a 20-hour history of colicky abdominal pain and vomiting and was diagnosed as having idiopathic ileocolic intussusception by abdominal computed tomography. We treated the patient with air enema reduction under fluoroscopic guidance instead of an operative procedure. She received oxygen and intravenous midazolam to provide some degree of pain relief. Air was carefully pumped manually into the rectum, and the air pressure was monitored with a manometer. Because of air leakage from the rectum through the void to the outside the body, we continued to provide air to maintain the air pressure between 40 and 60 mm Hg. Three minutes after initiation of the air enema, when the patient experienced increasing abdominal pain and vomiting, the pressure was temporarily increased to greater than 100 mm Hg, and the air reached the terminal ileum. We considered the reduction successful and confirmed it with an abdominal ultrasound examination. We believe that air enema reduction is effective for treating idiopathic intussusception within 24 hours of symptom onset in young, previously healthy adult patients.

Positional identification of an asthma susceptibility gene on human chromosome 5q33.

RATIONALE: Asthma is a common respiratory disease with complex genetic components. We previously reported strong evidence for linkage between mite-sensitive asthma and markers on chromosome 5q33. This area of linkage includes a region homologous to a mouse area that contains a locus involved in regulation of airway hyperreactivity. OBJECTIVE: The aim of the present study is to identify asthma susceptibility genes on chromosome 5q33. METHODS AND RESULTS: We performed mutation screening and association analyses of genes in the 9.4-Mb human linkage region. Transmission disequilibrium test analysis of 105 polymorphisms in 155 families with asthma revealed that six polymorphisms in cytoplasmic fragile X mental retardation protein (FMRP)-interacting protein 2 gene were associated significantly with the development of asthma (p = 0.000075; odds ratio, 5.9). These six polymorphisms were in complete linkage disequilibrium. In real-time quantitative polymerase chain reaction analysis, subjects homozygous for the haplotype overtransmitted to asthma-affected offspring showed significantly increased level of cytoplasmic FMRP interacting protein 2 gene expression in lymphocytes compared with ones heterozygous for the haplotype (p = 0.038). CONCLUSIONS: Our data suggest that cytoplasmic FMRP interacting protein 2 are associated with the development of atopic asthma in humans, and that targeting cytoplasmic FMRP interacting protein 2 could be a novel strategy for treating atopic asthma.

Association of a haplotype block spanning SDAD1 gene and CXC chemokine genes with allergic rhinitis.

BACKGROUND: Seasonal allergic rhinitis (SAR) is a common allergic disorder characterized by episodes of sneezing, rhinorrhea, and swelling of the nasal mucosa. Although the pathogenesis of SAR remains unclear, there does appear to be a genetic predisposition to development of SAR. We previously identified regions of chromosomes 1p, 4q, and 9q linked to SAR in 48 families (188 members) identified through children with SAR against orchard grass pollens. OBJECTIVE: The aim of the current study was to identify susceptibility genes for SAR on 4q. METHODS: We screened for markers associated with SAR on 4q with 17 microsatellite markers and then for mutations in 11 genes. We genotyped 44 single nucleotide polymorphisms (SNPs) in 48 SAR families and performed haplotype-based haplotype relative risk statistics implemented in the UNPHASED program. We also examined expression of genes with human multiple tissue and immune system cDNA panels. RESULTS: We found that 1 microsatellite marker, D4S3042, was associated with SAR (P = .034). The haplotype-based haplotype relative risk approach revealed that SNPs in SDA1 domain containing 1; chemokine, CXC motif, ligand (CXCL)-9; CXCL10; and CXCL11 were associated with SAR (P = .001-.04). These SNPs made up a haplotype block, and the most common haplotype of this block was transmitted preferentially to affected offspring (P = .002). CONCLUSION: Our results suggests that genetic variations in a haplotype block spanning the SDA1 domain containing 1 and CXC chemokine genes on 4q21 may contribute to development of SAR in the Japanese population.

Association between TNFA polymorphism and the development of asthma in the Japanese population.

Tumor necrosis factor (TNF) is a proinflammatory cytokine that participates in the inflammatory reaction in patients with asthma. The TNFA and TNFB genes, which encode TNF-alpha and TNF-beta, respectively, are located within the region encoding the human major histocompatibility complex on chromosome 6p21.3, which showed linkage to atopic asthma in our genome-wide search. To determine whether polymorphisms in the 5' flanking region of the TNFA gene (-1031C/T, -863C/A, and -857C/T) and an NcoI polymorphism in the TNFB gene (LTA NcoI) are associated with the development of asthma, we performed transmission disequilibrium tests of families identified through children with atopic asthma. Genotypes of families were determined by polymerase chain reaction-based restriction fragment length polymorphism or SNaPshot analysis. Transmission disequilibrium tests of 144 asthmatic families revealed that transmission of the -857C allele and the -1031T-863C-857C haplotype in the TNFA gene to asthma-affected offspring occurred more frequently than expected (-857C allele, p = 0.0055; -1031T-863C-857C haplotype, p = 0.0002). Our results suggest that TNFA or nearby genes, including those in the major histocompatibility complex region, may contribute to the development of asthma in the Japanese population.