Citrullinemia is one of the five urea cycle defects and is caused by argininosuccinic acid synthetase deficiency ; conversion of citrulline to argininosuccinic acid is blocked. Severe hyperammonemia typically develops in the neonate within a few days and symptoms such as vomiting, lethargy, convulsion, coma follows rapidly. The diagnosis is supported by high citrulline level in serum, urine, CSF and decreased activity of argininosuccinic acid synthetase in liver biopsy. We experienced a 3-day-old male neonate with poor activity, lethargy, convulsion, and coma who was diagnosed as citrullinemia by markedly elevated plasma and urine citrulline level with hyperammonemia. We report this case with brief review of the related literature.
Argininosuccinic Acid ; Biopsy ; Citrulline ; Citrullinemia* ; Coma ; Diagnosis ; Humans ; Hyperammonemia ; Infant, Newborn ; Lethargy ; Ligases ; Liver ; Male ; Plasma ; Seizures ; Urea ; Vomiting

Citrullinemia is one of the five urea cycle defects and is caused by argininosuccinic acid synthetase deficiency ; conversion of citrulline to argininosuccinic acid is blocked. Severe hyperammonemia typically develops in the neonate within a few days and symptoms such as vomiting, lethargy, convulsion, coma follows rapidly. The diagnosis is supported by high citrulline level in serum, urine, CSF and decreased activity of argininosuccinic acid synthetase in liver biopsy. We experienced a 3-day-old male neonate with poor activity, lethargy, convulsion, and coma who was diagnosed as citrullinemia by markedly elevated plasma and urine citrulline level with hyperammonemia. We report this case with brief review of the related literature.
Argininosuccinic Acid ; Biopsy ; Citrulline ; Citrullinemia* ; Coma ; Diagnosis ; Humans ; Hyperammonemia ; Infant, Newborn ; Lethargy ; Ligases ; Liver ; Male ; Plasma ; Seizures ; Urea ; Vomiting

PURPOSE: Alternating hemiplegia of childhood(AHC) is a rare neurologic syndrome of unknown pathophysiology. The typical clinical features are characterized by recurrent hemiplegic attacks shifting from one side to the other, beginning before 18 months, dystonia, strabismus, nystagmus, epilepsy, and immediate resolution of all symptoms during sleep. This study is to access clinical features and outcome of treatment of AHC in Korea. METHODS: We sent standardized questionnaires by e-mail to 118 council members of the Korean Society of Child Neurology. We received it through e-mail from 7 centers and analyzed clinical characteristics, treatment, and outcomes. RESULTS: We collected 11 AHC patients(male 6, female 5). The mean age was 6.13+/-5.23 years. The mean age of onset of hemiplegia was 9.80+/-6.67 months. The mean frequency of episode was 10.73+/-11.44 per month and mean duration was 3.10+/-2.50 days. The manifestations were hemiplegia in 100%, dystonia in 81.8%, abnormal eye movements in 81.8%, developmental delay in 81.8%, seizure in 72.7%, autonomic phenomena in 54.5%, ataxia 45.5%, and episodes of quadriparesis in 45.5%. The onset age of seizure was 3-84 months. Psychomotor retardation was more severe in patients with seizures than in those without seizures. Magnetic resonance imaging of brain and cerebral angiography were normal in all patients. Interictal SPECT shows hypoperfusion in the frontal in 2 of 5 patients. Nine patients received flunarizine and antiepileptic drugs but two patients received antiepileptic drugs only. A favorable response was reported in 45.5%, which included excellent response to the combination therapy of flunarizine and high dose topiramate. CONCLUSIONS: Patients with seizures faired the poorer psychomotor retardation. The combination of flunarizine and high dose topiramate was very effective in AHC.
Age of Onset ; Anticonvulsants ; Ataxia ; Brain ; Cerebral Angiography ; Child ; Dystonia ; Electronic Mail ; Epilepsy ; Eye Movements ; Female ; Flunarizine ; Fructose ; Hemiplegia ; Humans ; Korea ; Magnetic Resonance Imaging ; Neurology ; Quadriplegia ; Surveys and Questionnaires ; Seizures ; Strabismus ; Tomography, Emission-Computed, Single-Photon

BACKGROUND AND OBJECTIVES: The aim of this study was to investigate the effect of pulmonary valve replacement (PVR) on exercise capacity and determine cardiopulmonary exercise (CPEX) parameters associated with improvement in right ventricle (RV) function. SUBJECTS AND METHODS: We retrospectively analyzed CPEX and magnetic resonance imaging parameters in a total of 245 patients who underwent PVR from January 1998 to October 2015. In addition, we analyzed the characteristics of the patients who showed improved exercise capacity after PVR. RESULTS: Twenty-eight patients met the inclusion criteria for the study. CPEX parameters after PVR showed no significant changes in all patients. However, baseline predicted peak oxygen uptake (VO2(peak)) (%) value was significantly lower in patients with significant improvement in exercise capacity after PVR, as compared to patients who showed decreased exercise capacity after PVR (60.83±10.28 vs. 75.81±13.83) (p=0.003). In addition, patients with improved exercise capacity showed a positive correlation between the change of right ventricular ejection fraction (RVEF) (%) and the change of anaerobic threshold (r=0.733, p=0.007); whereas, patients with decreased exercise capacity showed a negative correlation between the change of RVEF (%) and the change of predicted VO2(peak) (%) (r=−0.575, p=0.020). CONCLUSION: The importance of predicted VO2(peak) (%) in evaluating exercise capacity differentiated from other CPEX variables. The change of anaerobic threshold and predicted VO2(peak) (%) might be a useful predictor of the change in RV function after PVR.
Anaerobic Threshold ; Exercise Test ; Heart Ventricles ; Humans ; Magnetic Resonance Imaging ; Oxygen ; Pulmonary Valve* ; Retrospective Studies ; Stroke Volume ; Tetralogy of Fallot*

BACKGROUND: Early recognition of the signs and symptoms of clinical deterioration could diminish the incidence of cardiopulmonary arrest. The present study investigates outcomes with respect to cardiopulmonary arrest rates in institutions with and without rapid response systems (RRSs) and the current level of cardiopulmonary arrest rate in tertiary hospitals. METHODS: This was a retrospective study based on data from 14 tertiary hospitals. Cardiopulmonary resuscitation (CPR) rate reports were obtained from each hospital to include the number of cardiopulmonary arrest events in adult patients in the general ward, the annual adult admission statistics, and the structure of the RRS if present. RESULTS: Hospitals with RRSs showed a statistically significant reduction of the CPR rate between 2013 and 2015 (odds ratio [OR], 0.731; 95% confidence interval [CI], 0.577 to 0.927; P = 0.009). Nevertheless, CPR rates of 2013 and 2015 did not change in hospitals without RRS (OR, 0.988; 95% CI, 0.868 to 1.124; P = 0.854). National university-affiliated hospitals showed less cardiopulmonary arrest rate than private university-affiliated in 2015 (1.92 vs. 2.40; OR, 0.800; 95% CI, 0.702 to 0.912; P = 0.001). High-volume hospitals showed lower cardiopulmonary arrest rates compared with medium-volume hospitals in 2013 (1.76 vs. 2.63; OR, 0.667; 95% CI, 0.577 to 0.772; P < 0.001) and in 2015 (1.55 vs. 3.20; OR, 0.485; 95% CI, 0.428 to 0.550; P < 0.001). CONCLUSIONS: RRSs may be a feasible option to reduce the CPR rate. The discrepancy in cardiopulmonary arrest rates suggests further research should include a nationwide survey to tease out factors involved in in-hospital cardiopulmonary arrest and differences in outcomes based on hospital characteristics.
Adult ; Cardiopulmonary Resuscitation ; Heart Arrest* ; Hospitals, High-Volume ; Humans ; Incidence ; Motivation* ; Patient Safety ; Patients' Rooms ; Pilot Projects* ; Quality of Health Care ; Retrospective Studies ; Tertiary Care Centers

Ectopic ACTH syndrome is frequently caused by lung cancer and uncommonly by other tumors such as thymic carcinoid. For its treatment, early diagnosis and complete resection is irresponsible, but some cases are remained unlocalized in spite of all diagnostic modalities. Here we report a case of ectopic ACTH syndrome which was localized by PET but could not be localized by conventional technique. A tumor at thymic area was ACTH secreting thymic carcinoid which was operated but couldnt resect completly. Glucocorticoid hypersecretion was persisted with chemotherapy, radiotherapy, and ketoconazole treatment. Patient died of sepsis after 12 months of diagnosis.
ACTH Syndrome, Ectopic* ; Adrenocorticotropic Hormone ; Carcinoid Tumor* ; Diagnosis ; Drug Therapy ; Early Diagnosis ; Humans ; Ketoconazole ; Lung Neoplasms ; Radiotherapy ; Sepsis

Endoscopic treatment has been performed in a variety of pancreatic ductal diseases such as stones, strictures, sphincter stenosis, and ductal disruption and is known to be an effective therapy in some patients. Endoscopic treatment through the minor papilla is frequently done in patients with pancreas divisum. Few data are, however, available concerning endoscopic minor papilla interventions in patients without pancreas divisum but with difficult access to the main pancreatic duct at the major duodenal papilla. We present a 49-year-old man, who had pancreatic ductal leak caused by previous pancreatic surgery. He was treated by endoscopic naso-pancreatic drainage and pancreatic ductal stenting through the minor papilla, so called pancreatic rendezvous technique. Follow-up ductography after two-weeks of naso-pancreatic drainage showed no leak. This case shows that minor papillar orifice could be an alternative access for therapeutic endoscopic intervention in a patient with traumatic pancreatic ductal leak without pancreas divisum.
Ampulla of Vater ; Constriction, Pathologic ; Drainage ; Follow-Up Studies ; Humans ; Middle Aged ; Pancreas* ; Pancreatic Ducts ; Stents

OBJECTIVE: Our purpose was to evaluate the safety and efficacy of pelviscopic surgery. METHODS: Between May 1996 and April 2000, we evaluated indication of operation, mean age, parity, previous operation history, type of operation, duration of hospitalization and complications. RESULTS: The results are summarized as follows ; 1) The mean age of patients was 34.8 years with ranges between 20 and 55 years old. 2) The majority of patients were between 36 years and 40 years old(23.6%). 3) The major clinical indications included 174 cases of adnexal mass(33.4%), 125 cases of ectopic pregnancy(24.0%), 59 cases of endometriosis(11.3%). 4) The types of operation composed of 168 cases diagnostic laparoscopy(30.7%), salpingectomy(17.2%), cystectomy(11.4%), LAVH(11.2%). 5) Previous laparotomy history was found in 146 cases(28.0%). 6) The mean duration of hospitalization was 4.4 days. CONCLUSIONS: The pelviscopy can be safely performed, resulting in reduced surgical morbidity, less blood loss, less postoperative discomfort and pain, shortened hospital stays and shorter recovery days. With the increased use of markers and ultrasonography to decrease the possibility of inappropriate surgery, combined with more defined exterpation techniques, the interest in laparoscopic ovarian surgery is burgeoning. And technologic advances afford us the opportunity to offer patients a number of alternatives to open surgery. The choice of anesthetic technique varies with requirements of the surgeon, the health status and preference of the patient, the type of facility and the availability of well trained professionals, support personnel and equipment. In conclusion, the pelviscopic surgery is alternative to laparotomy.
Female ; Hospitalization ; Humans ; Laparotomy ; Length of Stay ; Middle Aged ; Parity ; Ultrasonography

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS: Direct Sanger sequencing was used to identify MLC1 mutations. A founder effect of the p.Ala275Asp variant was demonstrated by haplotype analysis using single-nucleotide polymorphic (SNP) markers. Multiple ligation-dependent probe amplification (MLPA) and comparative genomic hybridization plus SNP array were used to detect exonic deletions or uniparental disomy (UPD). RESULTS: The most prevalent pathogenic variant was c.824C>A (p.Ala275Asp) found in 7/10 (70%) alleles. Two pathogenic frameshift variants were found: c.135delC (p.Cys46Alafs*12) and c.337_353delinsG (p.Ile113Glyfs*4). Haplotype analysis suggested that the Korean patients with MLC harbored a founder mutation in p.Ala275Asp. The p.(Ile113Glyfs*4) was identified in a homozygous state, and a family study revealed that only the mother was heterozygous for this variant. Further analysis of MLPA and SNP arrays for this patient demonstrated loss of heterozygosity of chromosome 22 without any deletion, indicating UPD. The maternal origin of both chromosomes 22 was demonstrated by haplotype analysis. CONCLUSIONS: This study is the first to describe the mutational spectrum of Korean patients with MLC, demonstrating a founder effect of the p.Ala275Asp variant. This study also broadens our understanding of the mutational spectrum of MLC1 by demonstrating a homozygous p.(Ile113Glyfs*4) variant resulting from UPD of chromosome 22.
Alleles ; Chromosomes, Human, Pair 22* ; Comparative Genomic Hybridization ; Exons ; Founder Effect ; Haplotypes ; Humans ; Leukoencephalopathies* ; Loss of Heterozygosity ; Megalencephaly ; Mothers ; Seizures ; Uniparental Disomy*

PURPOSE: Topical calcineurin inhibitor is recently developed topical immunomodulator, and preliminary studies showed its effectiveness in the treatment of atopic dermatitis (AD). However, some side effects including transient irritation can influence the patient compliance. So, there are some needs to improve the patient compliance. The purpose of this study was to evaluate the efficacy, safety and patient compliance with using topical tacrolimus 0.1% to treat AD when the correct information about topical tacrolimus are properly given to patients. METHODS: We examined the medical recordings, clinical severity scoring of total 194 AD patients at 9 general hospitals in Seoul, Korea from September 2010 to August 2011. We offered an infosheet of topical tacrolimus 0.1% and the patients applied it twice a day for 2 weeks. And we measured the efficacy of the topical tacrolimus 0.1% with SCORing atopic dermatitis (SCORAD) index, patient's global assessment (PGA), and investigator's global assessment (IGA). RESULTS: Topical tacrolimus 0.1% effectively controlled AD with a reduction of the SCORAD index from baseline 31.9 to 20.2 at 2 weeks of application. In IGA results showed 98% got improvement and in PGA, results showed 96% got improvement after treatment. Although 42.3% of the patients complained of adverse effects, these were all transient. The effect of information on topical tacrolimus 0.1% showed 34% patients could predict the side effect, 35% patients could feel safety to use, and 18% patients experienced side effect but could maintain topical calcineurin inhibitor. CONCLUSION: Topical tacrolimus 0.1% may be an effective treatment modality for AD when patients show good compliance for applying the ointment. And properly given, the correct information may increase the patient compliance.
Calcineurin ; Compliance ; Dermatitis, Atopic ; Hospitals, General ; Humans ; Immunoglobulin A ; Korea ; Medical Records ; Patient Compliance ; Prostaglandins A ; Tacrolimus