A case Report of a Classic Cystic fibrosis Pediatric Patient in Korea Carrying Very Rare CFTR Gene Mutations (D993Y and Q220X) / 소아알레르기및호흡기학회지

Cystic fibrosis is the most common autosomal recessive disease in Caucasian. Cystic fibrosis is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations that lead to dysfunction of chloride ion channel regulations in the epithelium. Cystic fibrosis can affect multiple organ functions, resulting in various signs and symptoms. Typically, chronic airway infection, maldigestion, failure to thrive, and male infertility can occur. There are approximately 1800 CFTR gene mutations which have been identified thus far. However, there are only a few types of mutations reported in Korea because the prevalence of the disease is different among ethnicitiess and nations. Despite its rarity, reports of CFTR mutations or diagnosed patients on the rise. Therefore, we have to detect better outcomes as early as possible based on a precise understanding of the disease entity. We report a 9-year-old girl carrying D339Y and Q220X gene mutations, as the first case report of a D339Y mutation in Korea.

Utility of a forced expiratory flow of 25 to 75 percent as a predictor in children with asthma / 소아과

PURPOSE: Asthma is defined as chronic inflammation of the lower small airways, and bronchial hyperreactivity (BHR) is a pathophysiologic feature of asthma. It has been proposed that although there is no direct variable capable of assessing the small airways, a forced expiratory flow of between 25 and 75 percent (FEF25-75) might be considered a more sensitive early marker of small airway obstruction than the forced expiratory volume in 1 second (FEV1). Thus, we proposed that the presence and degree of positive responses to bronchial methacholine testing were related to the difference (DFF) and ratio (RFF) between FEV1 and FEF25-75 in asthmatic children. METHODS: The subjects were 583 symptomatic children, including 324 children with BHR and 259 controls. Pulmonary function tests, methacholine challenge tests, and skin prick tests were performed, and the total eosinophil count, total serum IgE, and serum eosinophil cationic protein level were measured in all subjects. From a concentration-response curve, the methacholine concentration required to produce a decrease of 20% from post-saline FEV1 was calculated (PC20). RESULTS: The median DFF and RFF values decreased in controls compared to subjects with bronchial hyperresponsiveness, and this trend was found in groups ranked by its severity. PC20 had a negative correlation with DFF and RFF. Cutoff values of 0.5 for DFF and 1.042 for RFF were identified, and sensitivity and specificity were calculated. CONCLUSION: This study revealed that DFF and RFF might be predictive of bronchial hyperresponsiveness in the context of normal FEV1 in children.

Mucoepidermoid Carcinoma in a 12-Year-Old Boy / 소아알레르기및호흡기학회지

Bronchial mucoepidermoid tumors are rare, especially in children. They are commonly misdiagnosed as infections or asthma and treated with bronchodilators without resolution. Based on the available clinical outcome and survival data, it is believed that tracheobronchial mucoepidermoid carcinoma may be successfully managed by surgical intervention alone in children and adolescents. We report a case of a 12-year-old boy with low-grade mucoepidermoid carcinoma in the right intermediate bronchus that caused chronic cough. He underwent sleeve resection of the right bronchus and remained symptom-free without recurrence during the follow-up period of 16 months.

A Case of Chronic Pneumonitis of Infancy in a 3-Year-Old Boy / 소아알레르기및호흡기학회지

Interstitial lung disease, mostly chronic lung disorder, is usually characterized by diffuse infiltrates and disordered gas exchange, is a very rare disease in children. Chronic pneumonitis of infancy (CPI) is a recently described entity representing a distinct form of interstitial lung disease affecting infants and young children. The histologic findings suggest marked alveolar septal thickening, striking alveolar pneumocyte hyperplasia, and alveolar exudates containing numerous macrophages and foci of eosinophilic debris. A 3-year-old boy visited a local clinic with cough and tachypnea for a duration of 3 weeks. His clinical symptoms were aggravated and he was referred to our hospital. He was diagnosed with chronic pneumonitis of infancy after undergoing open lung biopsy. We herein present the case with review of literature.

Maxillary growth following cultured epidermal tissue graft and the administration of TGF-beta3 on surgically created palatal defects in rat

This study was designed to evaluate the influence of cultured epidermal tissue graft and the administration of transforming growth factor(TGF)-beta3 on maxillary growth in surgically created palatal defects. A total of 155 rats were divided into 2 groups according to surgical timing : postnatal 2 weeks(n=95), 4 weeks(n=40) and control(unoperated) group(n=20). The postnatal 2-week surgical group was subdivided into 3 groups according to repair methods: conventional surgery(Von Langenbeck technique)group(n=23); cultured tissue graft group(n=25); and full thickness skin graft group(n=25). Additionally, recombinant human TGF-beta3 was administered(30ng or 150ng) on collagen matrix in surgically created palatal defects during surgery(9 conventional surgeries, 9 cultured tissue grafts) in 2-week-old rats. The results showed that all types of surgical treatment decreased maxillary growth compared with the control(unoperated) group(p<0.0001). On the other hand, the tissue graft group, whether cultured tissue or grafted skin, contributed to increased maxillary growth(p<0.0001).And exogenous TGF-beta3 might play a role in connective tissue proliferation and new bone generation during wound healing on palatal defects. Our results suggest that grafting cultured epidermis with collagen matrix decreases the scar tension on maxillary growth more than conventional palatal surgery does. Therefore, exogenous TGF-beta3 may contribute to accelerate wound healing on palatal defects.

Prediction on lengths of stay in the postanesthesia care unit following general anesthesia: preliminary study of the neural network and logistic regression delling

The length of stay in the postanesthesia care unit (PACU) following general anesthesia in adults is an important issue. A model, which can predict the results of PACU stays, could improve the utilization of PACU and operating room resources through a more efficient arrangement. The purpose of study was to compare the performance of neural network to logistic regression analysis using clinical sets of data from adult patients undergoing general anesthesia. An artificial neural network was trained with 409 clinical sets using backward error propagation and validated through independent testing of 183 records. Twenty-two inputs were used to find determinants and to predict categorical values. Logistic regression analysis was performed to provide a comparison. The neural network correctly predicted in 81.4% of situations and identified discriminating variables (intubated state, sex, neuromuscular blocker and intraoperative use of opioid), whereas the figure was 65.0% in logistic regression analysis. We concluded that the neural network could provide a useful predictive model for the optimization of limited resources. The neural network is a new alternative classifying method for developing a predictive paradigm, and it has a higher classifying performance compared to the logistic regression model.