Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and clinical features in different parts of the world. While the disease shows autosomal dominant inheritance without any red cell morphological abnormalities in the temperate countries, it is almost invariably recessive, and often accompanies red cell morphological abnormalities or hemolytic anemia in the tropics, especially in Southeast Asia. Here, we report three patients with autosomal recessive (AR) dRTA, presenting with typical findings of failure to thrive and rickets, from two unrelated Lao families. The mutational analyses revealed that all three patients harbored the same homozygous SLC4A1 mutation, p.Gly701Asp. Adequate supplementation of alkali and potassium resulted in remarkable improvement of growth retardation and skeletal deformities of the patients. This is the first case report of Lao patients with AR dRTA caused by SLC4A1 mutations.
Acidosis, Renal Tubular* ; Alkalies ; Anemia, Hemolytic ; Asia, Southeastern ; Congenital Abnormalities ; Failure to Thrive ; Humans ; Inheritance Patterns ; Kidney ; Laos ; Potassium ; Protein Isoforms ; Rickets ; Wills

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disease that is often associated with genetic defects. Mutations of complement factor H (CFH) are the most common genetic defects that cause aHUS and often result in end-stage renal disease. Since CFH is mainly produced in the liver, liver transplantation (LT) has been performed in patients with defective CFH. METHODS: The clinical courses of four kidney allograft recipients who lost their native kidney functions due to aHUS associated with a CFH mutation were reviewed. RESULTS: Subject A underwent kidney transplantation (KT) twice, aHUS recurred and the allograft kidney failed within a few years. Subject B received a KT and soon experienced a recurrence of aHUS coinciding with infection. Her allograft kidney function has worsened, and she remains on plasma infusion therapy. Subject C underwent LT followed by KT. She is doing well without plasma infusion therapy after combined LT-KT for 3 years. Subject D received KT following LT and is now recurrence-free from aHUS. CONCLUSION: In patients with aHUS associated with a CFH mutation, KT without LT was complicated with a recurrence of aHUS, which might lead to allograft loss. Conversely, LT was successful in preventing the recurrence of aHUS and thus might be another option for a recurrence-free life for aHUS patients associated with CFH mutation.
Allografts ; Atypical Hemolytic Uremic Syndrome ; Complement Factor H ; Complement System Proteins ; Humans ; Kidney Failure, Chronic ; Kidney Transplantation ; Kidney ; Liver Transplantation ; Liver ; Plasma ; Rare Diseases ; Recurrence

PURPOSE: To evaluate the clinical spectrum of posttransplantation lymphoproliferative disorder (PTLD) after solid organ transplantation (SOT) in children. METHODS: We retrospectively reviewed the medical records of 18 patients with PTLD who underwent liver (LT) or kidney transplantation (KT) between January 1995 and December 2014 in Seoul National University Children's Hospital. RESULTS: Eighteen patients (3.9% of pediatric SOTs; LT:KT, 11:7; male to female, 9:9) were diagnosed as having PTLD over the last 2 decades (4.8% for LT and 2.9% for KT). PTLD usually presented with fever or gastrointestinal symptoms in a median period of 7 months after SOT. Eight cases had malignant lesions, and all the patients except one had evidence of Epstein-Barr virus (EBV) involvement, assessed by using in situ hybridization of tumor tissue or EBV viral load quantitation of blood. Remission was achieved in all patients with reduction of immunosuppression and/or rituximab therapy or chemotherapy, although 1 patient had allograft kidney loss and another died from complications of chemotherapy. The first case of PTLD was encountered after the introduction of tacrolimus for pediatric SOT in 2003. The recent increase in PTLD incidence in KT coincided with modification of clinical practice since 2012 to increase the tacrolimus trough level. CONCLUSION: While the outcome was favorable in that all patients achieved complete remission, some patients still had allograft loss or mortality. To prevent PTLD and improve its outcome, monitoring for EBV infection is essential, which would lead to appropriate modification of immunosuppression and enhanced surveillance for PTLD.
Allografts ; Child ; Drug Therapy ; Epstein-Barr Virus Infections ; Female ; Fever ; Herpesvirus 4, Human ; Humans ; Immunosuppression ; In Situ Hybridization ; Incidence ; Kidney ; Kidney Transplantation ; Liver ; Lymphoproliferative Disorders* ; Male ; Medical Records ; Mortality ; Organ Transplantation* ; Retrospective Studies ; Rituximab ; Seoul ; Tacrolimus ; Transplants* ; Viral Load

BACKGROUND: Varenicline is now very useful medication for cessation; however, there is only little result of researches with varenicline for cessation of hospitalized patients. This research attempted to analyze the cessation effect of medication and compliance of hospitalized patients. METHODS: This research included data for 52 patients who were prescribed varenicline among 280 patients who were consulted for cessation during their admission period. This research checked whether smoking was stopped or not after six months and analyzed their compliance, the factors for succeeding in smoking cessation. RESULTS: One hundred and ninety hospitalized patients participated in smoking cessation counseling among 280 patients who included consultation from their admission departments. And varenicline was prescribed for only 80 patients after counseling. Nineteen smokers were successful in smoking cessation among 52 final participants representing the rating of success of 36.5%. The linkage between compliance of varenicline and rate of smoking successful has no statistical significance. The factors for succeeding in smoking of hospitalized patients are admission departments, diseases, and economic states. CONCLUSION: Smoking cessation program has low inpatient compliance. Cooperation of each departments is very important for better compliance. Success rate of cessation was relatively high (36.5%). Cessation attempt during hospitalization is very effective strategy.
Compliance* ; Counseling ; Hospitalization ; Humans ; Inpatients ; Smoke* ; Smoking Cessation* ; Smoking* ; Varenicline

PURPOSE: We investigated early postoperative morbidity and mortality in patients with liver cirrhosis who had undergone radical gastrectomy for gastric cancer. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 41 patients who underwent radical gastrectomy at the Chonnam National University Hwasun Hospital (Hwasun-gun, Korea) between August 2004 and June 2009. There were few patients with Child-Pugh class B or C; therefore, we restricted patient selection to those with Child-Pugh class A. RESULTS: Postoperative complications were observed in 22 (53.7%) patients. The most common complications were ascites (46.3%), postoperative hemorrhage (22.0%) and wound infection (12.2%). Intra-abdominal abscess developed in one (2.4%) patient who had undergone open gastrectomy. Massive ascites occurred in 4 (9.8%) patients. Of the patients who underwent open gastrectomy, nine (21.9%) patients required blood transfusions as a result of postoperative hemorrhage. However, most of these patients had advanced gastric cancer. In contrast, most patients who underwent laparoscopic gastrectomy had early stage gastric cancer, and when the confounding effect from the different stages between the two groups was corrected statistically, no statistically significant difference was found. There was also no significant difference between open and laparoscopic gastrectomy in the occurrence rate of other postoperative complications such as ascites, wound infection, and intra-abdominal abscess. No postoperative mortality occurred. CONCLUSIONS: Laparoscopic gastrectomy is a feasible surgical procedure for patients with moderate hepatic dysfunction.
Abdominal Abscess ; Ascites ; Blood Transfusion ; Fibrosis* ; Gastrectomy* ; Humans ; Jeollanam-do ; Liver Cirrhosis ; Medical Records ; Mortality ; Patient Selection ; Postoperative Complications ; Postoperative Hemorrhage ; Retrospective Studies ; Stomach Neoplasms ; Wound Infection

Intestinal giant-cystic disease (IGCD) of the Israel carp (Cyprinus carpio nudus) has been recognized as one of the most serious diseases afflicting inland farmed fish in the Republic of Korea, and Thelohanellus kitauei has been identified as the causative agent of the disease. Until now, studies concerning IGCD caused by T. kitauei in the Israel carp have been limited to morphological and histopathological examinations. However, these types of diagnostic examinations are relatively time-consuming, and the infection frequently cannot be detected in its early stages. In this study, we cloned the full-length 18S rRNA gene of T. kitauei isolated from diseased Israel carps, and carried out molecular identification by comparing the sequence with those of other myxosporeans. Moreover, conventional PCR and real-time quantitative PCR (qPCR) using oligonucleotide primers for the amplification of 18S rRNA gene fragment were established for further use as methods for rapid diagnosis of IGCD. Our results demonstrated that both the conventional PCR and real-time quantitative PCR systems applied herein are effective for rapid detection of T. kitauei spores in fish tissues and environmental water.
Animals ; Carps ; DNA Primers/genetics ; DNA, Ribosomal/chemistry/genetics ; Fish Diseases/*diagnosis/parasitology ; Molecular Diagnostic Techniques/*methods ; Molecular Sequence Data ; Myxozoa/genetics/*isolation & purification ; Parasitic Diseases, Animal/*diagnosis/parasitology ; RNA, Ribosomal, 18S/genetics ; Real-Time Polymerase Chain Reaction/*methods ; Republic of Korea ; Sequence Analysis, DNA ; Time Factors ; Veterinary Medicine/*methods

Most bronchogenic cysts originate in the mediastinum, while 15% to 20% occur in the lung parenchyma. According to the literature, most intrapulmonary cysts occur in the lower lobes. But, they are rarely located in an extrathoracic site, such as subdiaphragmatic retroperitoneal area. We describe a paraesophageal intra-abdominal bronchogenic cyst, first considered as gastric submucosal tumor. Resection was successfully realized by laparoscopy. A 20-year-old female was admitted to our hospital with incidentally detected gastric submucosal tumor. At operation, there was a 2.5x2 cm sized cystic tumor that was isolated from the gastric wall. We performed tumor resection laparoscopically. The postoperative course was uneventful and the patient was discharged on the second postoperative day. Histological examination reported a bronchogenic cyst. We, herein, report this case.
Bronchogenic Cyst ; Female ; Humans ; Laparoscopy ; Lung ; Mediastinum ; Young Adult

OBJECTIVES: Parkinson's disease is one of the most common neurodegenerative diseases in the elderly population. In order to estimate the prevalence of Parkinson's disease in the community, the application of a good screening tool is essential. We evaluated the validity and reliability of a Parkinson's disease screening questionnaire and propose an alternative measure to improve its validity for use in community surveys. METHODS: We designed the study in a three-phase approach consisting of a screening questionnaire, neurologic examination, and confirmatory examination. A repeated survey was administered to patients with disease detected in the community and on 150 subjects. We examined internal consistency using Cronbach's alpha test, test-retest reliability using the kappa statistic, and validity using sensitivity, specificity, and ROC curves. Unadjusted odds ratios were utilized for the estimation of weights for each questionnaire item. RESULTS: The Cronbach's alpha of the questionnaire was 0.708. The kappa statistic for test-retest reliability was good to generally fair in most of the items. When newly proposed weighting scores were used, the optimum cut-off value was 7/8. When cut-off value was 5/6 for surveying prevalence in a community, the sensitivity was 0.98, and the specificity was 0.61, with simultaneous improvement in reliability. CONCLUSIONS: We recommend 5/6 as the ideal cut-off value for the survey of PD prevalence in community. This questionnaire designed for the Korean community could help future epidemiologic studies of PD.

OBJECTIVES: We evaluated the health effects of exposure to BTEX (Benzene, Toluene, Ethylbenzene, m,p-Xylene, o-Xylene) in the Taean area after the Hebei Spirit oil spill. METHODS: We used a questionnaire survey to look for health effects among 80 pregnant women 2 to 3 months following the Hebei Spirit oil spill. Their BTEX exposures were estimated using the CALPUFF method. We then used a multiple logistic regression analysis to evaluate the effects of BTEX exposure on the women's health effets. RESULTS: Pregnant women who lived near the accident site reported more symptoms of eye irritation and headache than those who lived farther from the site. There was a trend of decreasing symptoms with an increase in distance from the spill site. Pregnant women exposed to higher ambient cumulative levels of Xylene were significantly more likely to report symptoms of the skin (OR 8.01 95% CI=1.74-36.76) in the first day after the accident and significantly more likely to report abdominal pain (OR 3.86 95% CI=1.02-14.59 for Ethylbenzene, OR 6.70 95% CI=1.82-24.62 for Xylene) during the 1st through 4th days following the accident. CONCLUSIONS: This study suggests that exposure to BTEX from an oil spill is correlated with an increased risk of health effects among pregnant women. This implies the need to take proper measures, including the development of a national policy for environmental health emergencies and a plan for studying the short- and long-term chronic health effects associated with such spills.
Adult ; Benzene/*adverse effects/analysis ; Benzene Derivatives/*adverse effects/analysis ; *Disasters ; *Environmental Exposure ; Environmental Pollutants/*adverse effects/analysis ; Eye Diseases/chemically induced/epidemiology ; Female ; Health Surveys ; Humans ; *Petroleum ; Pregnancy ; Questionnaires ; Respiratory Tract Diseases/chemically induced/epidemiology ; Risk Factors ; Skin Diseases/chemically induced/epidemiology ; Time Factors ; Toluene/analysis ; *Women's Health ; Xylenes/analysis

Diffuse large B cell lymphoma is the most common type of non-Hodgkin's lymphoma, representing approximately one-third of all cases and involving the gastrointestinal tract in about 18%. With the development of modern chemotherapeutic regimens and advances in medical care, the prognosis for malignant lymphoma can be excellent. However, because of the aggressive adjuvant therapy required, complications such as bowel perforation may be fatal. In cases of chemotherapy for malignant lymphoma, we should keep in mind the possibility of perforation of the bowel after chemotherapy. Early detection is important to save patients.
Gastrointestinal Tract ; Humans ; Lymphoma ; Lymphoma, B-Cell ; Lymphoma, Non-Hodgkin ; Prognosis