Hee Ju Park

Clinical Characteristics of Pandemic Influenza A (H1N1) 2009 Pediatric Infection in Busan and Gyeongsangnam-do: One Institution

Background This study investigated the clinical characteristics and risk factors of the severity of pandemic influenza A (H1N1) 2009 infection in pediatric patients in Busan and Gyeongsangnam-do. Methods Cases of influenza A (H1N1) 2009 in patients under the age of 18 years, confirmed by reverse transcription polymerase chain reaction, at Pusan National University Hospital and Pusan National University Yangsan Hospital from the last week of August 2009 through the last week of February 2010 were retrospectively analyzed. Results Of the 3,777 confirmed cases of influenza A (H1N1) 2009, 2,200 (58.2%) were male and 1,577 (41.8%) were female. The average age of the patients was 8.4±4.8 years. The total cases peaked during 44th to 46th week. Most of the patients were in the 5- to 9-year-old age group. Oseltamivir was administered to 2,959 (78.3%) of the patients. 221 patients (5.9%) were hospitalized, age an average of 6.7±4.5 years. The average duration of hospitalization was 7.4±5.6 days. One hundred cases (45.2%) had pneumonia. Risk factors for hospitalization included male gender, <2 years of age, and underlying disease. Children with asthma were at very high risk of hospitalization, over 20 times the non-asthmatic children (odds ratio [OR], 21.684; confidence interval [CI], 13.295~39.791). Likewise the children with neurologic deficits faced a 16 times higher risk (OR, 15.738; CI, 7.961~31.111). Ten of the patients (4.5%) were admitted to the intensive care unit, and eight (3.6%) required mechanical ventilation. Conclusion Of the pediatric patients with pandemic influenza A (H1N1) 2009, most of the patients were in the 5- to 9-year-old age group. Risk factors for hospitalization included male gender, <2 years of age, and underlying disease. The most common complication was pneumonia. The very high risk of severe morbidity in children with asthma or neurologic disease shows the critical importance of targeted vaccine coverage, special awareness and swift care by both guardians and primary care providers.

Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome.

CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6‐month‐old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T−, B+, NK−); however, CHD7 mutation was not detected. Disseminated BCG infection did not resolve despite administration of anti‐tuberculosis drugs and intravenous immune globulins, and she subsequently died of acute respiratory distress syndrome. Pediatr Pulmonol. 2017;52:E4–E6.

Bile acid increases expression of the histamine-producing enzyme, histidine decarboxylase, in gastric cells.

AIM To investigate the effect of bile acid on the expression of histidine decarboxylase (HDC), which is a major enzyme involved in histamine production, and gene expression of gastric transcription factors upon cooperative activation. METHODS HDC expression was examined by immunohistochemistry, reverse transcriptase polymerase chain reaction, and promoter assay in human gastric precancerous tissues, normal stomach tissue, and gastric cancer cell lines. The relationship between gastric precancerous state and HDC expression induced by bile acid was determined. The association between the expression of HDC and various specific transcription factors in gastric cells was also evaluated. MKN45 and AGS human gastric carcinoma cell lines were transfected with farnesoid X receptor (FXR), small heterodimer partner (SHP), and caudal-type homeodomain transcription factor (CDX)1 expression plasmids. The effects of various transcription factors on HDC expression were monitored by luciferase-reporter promoter assay. RESULTS Histamine production and secretion in the stomach play critical roles in gastric acid secretion and in the pathogenesis of gastric diseases. Here, we show that bile acid increased the expression of HDC, which is a rate-limiting enzyme of the histamine production pathway. FXR was found to be a primary regulatory transcription factor for bile acid-induced HDC expression. In addition, the transcription factors CDX1 and SHP synergistically enhanced bile acid-induced elevation of HDC gene expression. We confirmed similar expression patterns for HDC, CDX1, and SHP in patient tissues. CONCLUSION HDC production in the stomach is associated with bile acid exposure and its related transcriptional regulation network of FXR, SHP, and CDX1.

Lung Abscess and Bacteremia Caused by Neisseria flavescens and Streptococcus sanguis in Patient with Idiopathic Hypereosinophilic Syndrome

Lung Abscess and Bacteremia Caused by Neisseria flavescens and Streptococcus sanguis in Patient with Idiopathic Hypereosinophilic Syndrome Ju Hyun Kong, Sung Hyun Shin, Su Eun Park, Hee Ju Park, Jongyoun Yi, Shine Young Kim, Seung Kook Son Departments of Pediatrics, Laboratory Medicine, Pusan National University School of Medicine, Yangsan, Department of Laboratory Medicine, Pusan National University Hospital, Busan, Korea

A Novel Mutation in CD40LG Gene Causing X-Linked Hyper IgM Syndrome

To the Editor: A 4-mo-old male infant was admitted to our hospital for treatment of pneumonia. He was intubated because of the rapid progression to acute respiratory distress syndrome (ARDS). He underwent immunologic evaluation and bronchoalveolar lavage (BAL). Systemic corticosteroids and intravenous immunoglobulin were administered after the immunologic studies were performed. After treatment with these medications, he rapidly recovered from ARDS. Serum immunoglobulin (Ig) levels were as follows: IgG, 54 mg/dL (480–1200 mg/ dL); IgA, below detectable limits (33–180 mg/dL); and IgM, 105 mg/dL (54–200 mg/dL). Polymerase chain reaction (PCR) forPneumocystis jiroveci (P. jiroveci) in the BAL fluid revealed positive results. He received no specific treatment targeting the P. jiroveci infection because theP. jiroveci PCRwere confirmed to be positive on the 14th day of admission. To obtain an accurate diagnosis, he underwent lung biopsy and histopathological examination demonstrated the formation of a foamy eosinophilic alveolar exudate (Fig. 1a and b). We performed whole exome sequencing (WES) and the details are described in Table 1. This variant has not been reported previously and was confirmed by Sanger sequencing. Family DNA analysis revealed that his mother was a heterozygous carrier but his father, brother, and maternal grandmother had no relevant mutations (Fig. 1c). X-linked hyper-IgM syndrome (HIGM1) is caused by mutations in CD40LG, which results in an inability to signal B cells to undergo isotype switching; thus, B cells produce only IgM [1]. Opportunistic infections caused by P. jiroveci are frequently the first presenting illness in male infants with HIGM1 [2]. Recently, WES has helped identify HIGM1 in patients that presented with pulmonary alveolar proteinosis and severe cutaneous histoplasmosis [3, 4]. This sequencing method is regarded as a cost-effective screening tool with great potential to identify novel genetic causes of primary immunodeficiencies in clinical practice [5]. Although our patient was suspected of having HIGM1 or HIGM3 susceptible to P. jiroveci infection, he had no family history of one or more maternally related males with an HIGM1 phenotype or diagnosis. This led to the use of WES to identify the underlying genetic cause of HIGM.