Cystic fibrosis (CF) is an autosomal recessive inherited multisystem disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Respiratory failure remains the most frequent cause of morbidity and mortality. Lung transplantation is the only option to treat end-stage lung disease. Very few cases of CF occur in Koreans. We report the case of a 12-year-old girl with respiratory failure due to CF who underwent lung transplantation. She had been diagnosed with CF 8 years previously after being treated for recurrent Pseudomonas aeruginosa pneumonia and malnutrition based on sweat chloride concentrations and the CFTR protein gene mutation test. Progression to end-stage lung disease and respiratory failure led to registration with the Korean Network for Organ Sharing. She underwent successful double lung transplantation in 2014. Although she has diabetes mellitus and chronic kidney disease, she has a better quality of life and a prolonged life expectancy.
Child* ; Cystic Fibrosis Transmembrane Conductance Regulator ; Cystic Fibrosis* ; Diabetes Mellitus ; Female ; Humans ; Korea ; Life Expectancy ; Lung Diseases ; Lung Transplantation* ; Lung* ; Malnutrition ; Mortality ; Pneumonia ; Pseudomonas aeruginosa ; Quality of Life ; Renal Insufficiency, Chronic ; Respiratory Insufficiency ; Sweat

PURPOSE: Drug provocation tests (DPT) are the gold standard for confirming the diagnosis of drug hypersensitivity reactions (DHRs). However, there are little studies of DPT in children. The purpose of this study was to evaluate DPT results and safety as diagnostic methods of DHR in Korean children. METHODS: We reviewed the medical records of 39 children under 18 years of age with a suspected DHR and performed DPT between January 2010 and May 2016 at Asan Medical Center. RESULTS: Total 110 DPT were performed in 39 children (20 boys and 19 girls) with a history of DHR. Clinical presentation of DHR included skin rash (n=7), pruritus (n=3), urticaria (n=18), angioedema (n=19), dyspnea (n=5), hoarseness (n=1), hypothermia (n=1), and anaphylaxis (n=5). The median age at the time of DPT was 9 years. Positive DPT were observed in 21 of 39 children (53.8%) and 28 of 110 cases (25.5%). Drugs causing positive reactions were acetaminophen in 50% (9 of 18), nonsteroidal anti-inflammatory drugs in 29.2% (14 of 48), cephalosporin in 9.1% (1 of 11), trimethoprim/sulfamethoxazole in 50% (1 of 2), local anesthetics in 10% (1 of 10), and others (levodropropizine and idursulfase) in 15.4% (2 of 13). There was no statistical difference between children who had positive and negative results in sex, age, personal and parental history of allergic disease, eosinophil count, or total IgE level. Children with positive DPT did not develop anaphylaxis during the DPT procedure. CONCLUSION: Drug provocation test is safe, and it can be considered in children with suspected DHRs.
Acetaminophen ; Anaphylaxis ; Anesthetics, Local ; Angioedema ; Child ; Chungcheongnam-do ; Diagnosis ; Drug Hypersensitivity ; Dyspnea ; Eosinophils ; Exanthema ; Hoarseness ; Humans ; Hypothermia ; Immunoglobulin E ; Medical Records ; Parents ; Pruritus ; Urticaria

PURPOSE: Polymerase chain reaction(PCR) has generally been more sensitive than traditional tests for the detection of Chlamydia trachomatis which has been a leading cause of sexually transmitted disease. We performed this study to find out if there is an association between C. trachomatis infection and low birth weight(LBW) or prematurity. METHODS: The study included 98 premature or LBW infants admitted to the neonatal intensive care unit of Soonchunhyang Chunan hospital between January and July of 1999. Nasopharyngeal swab specimens were obtained from 98 neonates with a LBW or prematurity. Endotracheal secretions were obtained from 28 LBW or premature infants. Vaginal swabs were collected from 47 mothers who had given birth to LBW or premature infants. We performed the nested PCR with Chlamydia-CR kit(Bioneer, Korea). PCR products were resolved by electrophoresis on 2% agarose gel. These products were observed by their size which was 345 bp. RESULTS: C. trachomatis was not detected by the nested PCR from 98 nasopharyngeal swabs nor 28 endotracheal secretion specimens. But, C. trachomatis was detected in 2(4.2%) out of 47 vaginal swab specimens from mothers who had given birth to LBW or premature infants. CONCLUSION: The nested PCR is a relatively simple, fast and practical tool for the detection of C. trachomatis, but the positive rates of C. trachomatis were low in LBW or premature infants and also in mothers who had given birth to LBW or premature infants. We suggest two possible conclusions from our study. The first is that nasopharyngeal swabs and endotracheal secretions are improper specimens for C. trachomatis. The second is that C. trachomatis infection is lower in our study.
Chlamydia trachomatis* ; Chlamydia* ; Chungcheongnam-do ; Electrophoresis ; Humans ; Infant ; Infant, Low Birth Weight* ; Infant, Newborn ; Infant, Premature ; Intensive Care, Neonatal ; Mothers ; Parturition ; Polymerase Chain Reaction* ; Sepharose ; Sexually Transmitted Diseases

PURPOSE: Langerhans cell histiocytosis (LCH) is a disorder characterized by the proliferation of activated Langerhans cells. Although current therapies are very effective at inducing remission, multiple recurrences and long-term sequelae are common for young patients. For this reason, more effective therapies based on the pathogenesis of LCH are needed. We investigated the use of 2-chlorodeoxyadenosine (2-CdA), a purine analogue with an antiproliferative effect on histiocytes and lymphocytes, in patients with recurrent or refractory LCH. METHODS: Four children with recurrent or refractory LCH received 2-CdA (5~7 mg/m2/day for 5 days, given as a 24-hr continuous infusion and repeated every 21~28 days for 5~7 courses). RESULTS: All four patients had multiorgan involvement, and were heavily pretreated. Of the two children with recurrent diseases, one had complete response and the other showed no active disease except for the remaining diabetes insipidus. Two infants who showed poor early response to previous combination chemotherapy also responded poorly: partial response in one, and progressive disease resulting in death in the other. Toxicity consisted mainly of myelosuppression, but significant infections did not occur. The peripheral neuropathy was not seen. CONCLUSION: 2-CdA, tolerable in children without significant side effects, might be effective for the treatment of recurrent LCH in children. However, the efficacy in infants with multi-system, refractory diseases needs further study. The feasibility of 2-CdA treatment as the first-line therapy for high-risk diseases, and the possibility of combination with other agents needs to be addressed in the future.
Child* ; Cladribine* ; Diabetes Insipidus ; Drug Therapy, Combination ; Histiocytes ; Histiocytosis, Langerhans-Cell* ; Humans ; Infant ; Langerhans Cells ; Lymphocytes ; Peripheral Nervous System Diseases ; Recurrence

PURPOSE: When using the emergency room of a tertiary hospital, both patients and their relatives or friends sometimes experience dissatisfaction and complain. Patient satisfaction deserves attention not only because it is an intrinsically worthy goal but also because it is a potentially significant mediator for promoting health and well-being. This study aims to identify patient's official complaints and to improve the quality of care in the Emergency Department (ED). METHODS: We investigated retrospectively 144 official complaints of visitors in 4 tertiary university hospital emergency centers between January 1, 2001, and December 31, 2003. RESULTS: Among those 144 official complaints from the 4 hospital emergency centers were 116 appropriate complaints, as determined by the inclusion criteria, and 212 detailed descriptions of dissatisfaction. The seven major categories of dissatisfactions were analyzed: rudeness or lack of kindness, delayed waiting time, insufficient explanation of patient condition, distrust of treatment, absence of a specialist, poor emergency-department environment, and high treatment fee. CONCLUSIONS: Dissatisfaction related to the lack of kindness was the most common problem in all four university hospital emergency centers. The next most important problem was the delayed time or distrust of treatment. The concrete causes of the complaints varied with the hospital. To improve the quality of care for patients in the ED, the hospital staff should be more attentive and kind and should explain the patient's condition in more detail. Reducing the waiting time is also important.
Emergencies* ; Emergency Service, Hospital ; Fees and Charges ; Friends ; Humans ; Patient Satisfaction ; Retrospective Studies ; Specialization ; Tertiary Care Centers*

Transglutaminase is an calcium dependent enzyme involved in various biological events such as cell growth and proliferation, apoptosis, fertilization, embryogenesis, and carcinogenesis. Biochemically it can be detected in many organs but no systemic in situ localization has been carried out so far. In the present study we report the immuno-histochemical localization of TG1, 2, 3 in rat kidney tissue using newly purificated polyclonal anti-goat traglutaminase 1 and anti-rabbit polyclonal transglutaminase 2 or 3 antibody. The results are as follows 1. The presence of transglutaminase 1, 2 and 3 was demonstrated in the both renal cortex and renal medulla of the rat. Although the in situ localization patterns were very similar, strength of the immunoreactivity was different; transglutaminase 1, 2, 3 in order. 2. More strong immunoreactivity for transglutaminase 1, 2, 3 were detected in the renal tubule than the renal glomerulus. 3. The strong immunoreactivity was demonstrated in the capsule, brush border of proximal convoluted tubule and collecting duct and thin limb of Henle's loop. The functional implications of these findings are presently unknown. However, based on its wide distribution in the renal tubule, certain essential role of these enzymes in maintaining the electrolytes balance may be suggested.
Animals ; Apoptosis ; Calcium ; Carcinogenesis ; Electrolytes ; Embryonic Development ; Extremities ; Female ; Fertilization ; Immunohistochemistry ; Kidney* ; Microvilli ; Pregnancy ; Rats*

Wernicke's encephalopathy is a neurologic complication of thiamine deficiency, presenting with acute confusion, oculomotor dysfunction, and gait ataxia. While most often associated with chronic alcoholism, Wernicke's encephalopathy occasionally occurs in the setting of poor nutritional status, such as malabsorption, increased metabolic requirements, or increased loss of the water-soluble vitamins. Patients with critical illnesses can present with excessive catabolic status because of activation of the sympathetic nervous system and the pituitary-adrenal axis. In addition, inappropriate nutritional evaluation and lack of concerns for adequate nutrient support can increase the morbidity and mortality in such patients. However, the importance of adequate nutritional support is often disregarded during treatment of the patient's primary illness. We have recently managed a patient with Wernicke's encephalopathy and pneumonia who did not receive adequate nutritional support during hospitalization. We report this case to call attention to the importance of nutritional support in critically ill patients.
Alcoholism ; Axis, Cervical Vertebra ; Critical Illness ; Gait Ataxia ; Hospitalization ; Humans ; Nutritional Status ; Nutritional Support ; Pneumonia ; Sympathetic Nervous System ; Thiamine Deficiency ; Vitamins ; Wernicke Encephalopathy

Prion diseases are a group of neurodegenerative and fatal central nervous system disorders. The pathogenic mechanism involves the conversion of cellular prion protein (PrPC) to an altered scrapie isoform (PrPSc), which accumulates in amyloid deposits in the brain. However, no therapeutic drugs have demonstrated efficacy in clinical trials. We previously reported that BMD42-29, a synthetic compound discovered in silico , is a novel anti-prion compound that inhibits the conversion of PrPC to protease K (PK)-resistant PrPSc fragments (PrPres). In the present study, 14 derivatives of BMD42-29 were obtained from BMD42-29 by modifying in the side chain by in silico feedback, with the aim to determine whether they improve anti-prion activity. These derivatives were assessed in a PrPSc-infected cell model and some derivatives were further tested using real timequaking induced conversion (RT-QuIC). Among them, BMD42-2910 showed high anti-prion activity at low concentrations in vitro and also no toxic effects in a mouse model. Interestingly, abundant PrPres was reduced in brains of mice infected with prion strain when treated with BMD42- 2910, and the mice survived longer than control mice and even that treated with BMD42-29. Finally, high binding affinity was predicted in the virtual binding sites (Asn159, Gln 160, Lys194, and Glu196) when PrPC was combined with BMD-42-2910. Our findings showed that BMD42-2910 sufficiently reduces PrPres generation in vitro and in vivo and may be a promising novel anti-prion compound.

Background/Aims: Although balloon-assisted enteroscopy (BAE) enables endoscopic visualization of small bowel (SB) involvement in Crohn’s disease (CD), there is no data on the changes in outcomes over time. We therefore investigated the changes in BAE use on CD patients over different time periods in terms of its role and clinical outcomes. Methods: We used a multicenter enteroscopy database to identify CD patients with SB involvement who underwent BAE (131 procedures, 116 patients). We compared BAE-related factors and outcomes between the first period (70 procedures, 60 patients) and the second period (61procedures, 56 patients). The specific cutoff point for dividing the two periods was 2007, when BAE guidelines were introduced. Results: Initial diagnosis of SB involvement in CD was the most common indication for BAE during each period (50.0% vs 31.1%, p=0.034). The largest change was in the number of BAE uses for stricture evaluation and/or treatment, which increased significantly in the latter period (2.9% vs 21.3%, p=0.002). The diagnostic yield in patients with suspected CD was 90.7% in the first period and 95.0% in the second (p=0.695). More endoscopic interventions were performed in the second period than in the first (5.1% vs 17.6%, p=0.041). Enteroscopic success rates were high throughout (100% in the first period vs 80.0% in the second period, p>0.999). In the first and second periods, therapeutic plans were adjusted in 62.7% and 61.4% of patients, respectively. Conclusions The overall clinical indications, outcomes, and effectiveness of BAE were constant over time in CD patients with SB involvement, with the exception that the frequency of enteroscopic intervention increased remarkably.

Background/Aims: Although balloon-assisted enteroscopy (BAE) enables endoscopic visualization of small bowel (SB) involvement in Crohn’s disease (CD), there is no data on the changes in outcomes over time. We therefore investigated the changes in BAE use on CD patients over different time periods in terms of its role and clinical outcomes. Methods: We used a multicenter enteroscopy database to identify CD patients with SB involvement who underwent BAE (131 procedures, 116 patients). We compared BAE-related factors and outcomes between the first period (70 procedures, 60 patients) and the second period (61procedures, 56 patients). The specific cutoff point for dividing the two periods was 2007, when BAE guidelines were introduced. Results: Initial diagnosis of SB involvement in CD was the most common indication for BAE during each period (50.0% vs 31.1%, p=0.034). The largest change was in the number of BAE uses for stricture evaluation and/or treatment, which increased significantly in the latter period (2.9% vs 21.3%, p=0.002). The diagnostic yield in patients with suspected CD was 90.7% in the first period and 95.0% in the second (p=0.695). More endoscopic interventions were performed in the second period than in the first (5.1% vs 17.6%, p=0.041). Enteroscopic success rates were high throughout (100% in the first period vs 80.0% in the second period, p>0.999). In the first and second periods, therapeutic plans were adjusted in 62.7% and 61.4% of patients, respectively. Conclusions The overall clinical indications, outcomes, and effectiveness of BAE were constant over time in CD patients with SB involvement, with the exception that the frequency of enteroscopic intervention increased remarkably.