Hemimegalencephaly and tuberous sclerosis complex are distinct and rare conditions which are characterized by malformations of cortical developments. Hemimegalencephaly is a cerebral malformation of unknown pathophysiology characterized by asymmetry of the hemispheres and cortical dysplasia. Tuberous sclerosis complex(TSC) is an autosomal dominant neurocutaneous disorder characterized by the formation of hamartomatous lesion in multiple organ systems. While they are currently thought to be unrelated, there are similar cases in the literature and it is conceivable that an abnormality in early cortical development could lead to both conditions in an individual. We report here a first Korean case of unusual association of hemimegalencephaly and tuberous sclerosis complex with mutation in the TSC2 gene, who presented initially frequent partial seizures and infantile spasms.
Epilepsy ; Malformations of Cortical Development ; Neurocutaneous Syndromes ; Seizures ; Tuberous Sclerosis

BACKGROUND: Evaluation of coronary artery disease(CAD) by radionuclide myocardial perfusion scintigraphy is safe, convenient and informative for diagnosis of CAD & assessment of functional significance of stenotic lesions. We tried to evaluate the characteristics of CAD in dibetics by intravenous dipyridamloe (99m)Tc-MIBI(methoxy isobutyl isonitrile) SPECT(Single Photon Emission Computed Tomography). METHOD: (99m)Tc-MIBI SPECT and coronary arteriography(CAG) were performed simultaneously in less than 2 week interval in 41 diabetics(diabetic group) and 103 non-diabetics(non-diabetic group) with clinical suspicion of CAD. The sensitivity and specificity of (99m)Tc-MIBI SPECT for detection of CAD were compared between two groups. The site and number of involved vessels, the extent of perfusion defect and redistribution pattern were compared between two groups. RESULT: 1) The sensitivity and specificity of (99m)Tc-MIBI SPECT for detection of CAD were 97% and 80% in diabetics, these were comparable to those in non-diabetics(97% and 78%). 2) Three vessel disease were common(p<0.01)in diabetics(SPECT 28.1%, CAG 32.3%) than in non-diabetics(SPECT 11.4%, CAG 7.5%). Distal lesions were also more common(p<0.005) in diabetics(CAG 40.3%) than in non-diabetics(CAG 15.7%). 3) On stress SPECT, the extent of perfusion defect was not different in individual vessel areas between diabetics and non-diabetics. However the perfusion defect of left ventricle as a whole was significantly higher(p<0.05) in diabetics(35.2+/-16.2%) than in non-diabetics(26.4+/-15.5%). 4) On rest SPECT, the percent redistribution was significantly lower in diabetics than in non-diabetics(left anterior descending artery area ; diabetic group 31.1+/-22.5% vs non-diabetic group ; 49+/-28.5%, p<0.05, left ventricle as a whole ; diabetic group 30.6+/-21.2% vs non-diabetic group 48.2+/-27.6%, p<0.02). CONCLUSION: Quantitative (99m)Tc-MIBI SPECT provided high sensitivity and specificity for detection of CAD in diabetics. Multiple vessel disease, distal lesion and fixed lesions were more common in diabetics than in non-diabetics, (99m)Tc-MIBI SPECT is useful noninvasive test for diagnosis of CAD & important prognostic implications.
Arteries ; Coronary Artery Disease* ; Coronary Vessels* ; Diagnosis ; Heart Ventricles ; Perfusion ; Perfusion Imaging ; Sensitivity and Specificity ; Tomography, Emission-Computed, Single-Photon*

PURPOSE: Most of the atopic dermatitis (AD) patients and their parents refuse topical treatment because of concern about generalized side effect due to systemic absorption of topical corticosteroids. Therefore, a large number of studies reported difficulty in properly controlling in AD. However, investigations of the percutaneous absorption of topical corticosteroids are still insufficient. METHODS: One hundred nine patients who visited our atopy clinic and diagnosed as AD by a physician from January 2005 to January 2012 were enrolled. We examined serum corticosteroid (clobetasol propionate, hydrocortisone) level by liquid chromatography (LC) coupled with a tandem mass spectrometric (MS/MS) method. RESULTS: We developed the LC-MS/MS method to determine corticosteroids (clobetasol propionate, hydrocortisone) in sera of AD patients. Also, we confirmed precision, accuracy, limit of detection, limit of quantification, absolute recovery, and relative recovery of the experimental methods. We could not detect clobetasol propionate or hydrocortisone in sera of 109 AD patients using the newly developed LC-MS/MS method. CONCLUSION: Regardless of age, the severity and illness duration of AD, clobetasol and hydrocortisone were not detected in sera. Although there are many other factors of determining systemic absorption of topical medications, our results showed that topical corticosteroids applied for several years in AD patients may be under the limit of detection in their sera by the LC-MS/MS method.
Absorption, Physiological ; Adrenal Cortex Hormones* ; Chromatography, Liquid ; Clobetasol ; Dermatitis, Atopic* ; Diethylpropion ; Humans ; Hydrocortisone ; Limit of Detection ; Methods ; Parents ; Skin Absorption

Escherichia coli heat-labile enterotoxin (LT) is composed of catalytic A and non-catalytic homo-pentameric B subunits and causes diarrheal disease in human and animals. In order to produce a nontoxic LT for vaccine and adjuvant development, two novel derivatives of LT were constructed by a site-directed mutagenesis of A subunit; Ser63 to Tyr63 in LTS63Y and Glu110, Glu112 were deleted in LT delta 110/112. The purified mutant LTs (mLTs) showed a similar molecular structural complex as AB5 to that of wild LT. In contrast to wild-type LT, mLTs failed to induce either elongation activity, ADP-ribosyltransferase activity, cAMP synthesis in CHO cells or fluid accumulation in mouse small intestine in vivo. Mice immunized with mLTs either intragastrically or intranasally elicited high titers of LT-specific serum and mucosal antibodies comparable to those induced by wild-type LT. These results indicate that substitution of Ser63 to Tyr63 or deletion of Glu110 and Glu112 eliminate the toxicity of LT without a change of AB5 conformation, and both mutants are immunogenic to LT itself. Therefore, both mLTs may be used to develop novel anti-diarrheal vaccines against enterotoxigenic E. coli.
Amino Acid Substitution ; Animal ; Bacterial Toxins/toxicity* ; Bacterial Toxins/metabolism ; Bacterial Toxins/immunology* ; Bacterial Toxins/genetics ; CHO Cells ; Cyclic AMP/metabolism ; Enterotoxins/toxicity* ; Enterotoxins/metabolism ; Enterotoxins/immunology* ; Enterotoxins/genetics ; Enzyme-Linked Immunosorbent Assay ; Escherichia coli*/metabolism ; Escherichia coli*/genetics ; Female ; Hamsters ; IgA, Secretory/blood ; Ileum/metabolism ; Immunity, Mucosal ; Mice ; Mice, Inbred BALB C ; Mutagenesis, Site-Directed ; NAD+ ADP-Ribosyltransferase/metabolism ; Recombinant Proteins/toxicity ; Recombinant Proteins/metabolism ; Recombinant Proteins/immunology ; Recombinant Proteins/chemistry

Escherichia coli heat-labile enterotoxin (LT), which causes a characteristic diarrhea in humans and animals, is a strong mucosal immunogen and has powerful mucosal adjuvant activity towards coadministered unrelated antigens. Here we report the different mucosal adjuvanticity of nontoxic LT derivatives, LTS63Y and LTdelta110/112, generated by immunizing through two different mucosal routes. Intragastric (IG) immunization with Helicobacter pylori urease alone resulted in poor systemic IgG and IgA responses and no detectable local secretory IgA, but IG co-immunization with urease and LTdelta110/112 induced high titers of urease-specific local secretory IgA and systemic IgG and IgA, comparable to those induced by wild-type LT. LTS63Y showed far lower adjuvant activity towards urease than LTdelta110/112 in IG immunization, but was more active than LTdelta110/112 in inducing immune responses to urease by intranasal (IN) immunization. LTdelta110/112 predominantly enhanced the induction of urease-specific IgG1 levels following IG immunization, whereas LTS63Y induced high levels of IgG1, IgG2a and IgG2b following IN immunization. In addition, quantitative H. pylori culture of stomach tissue following challenge with H. pylori demonstrated a 90-95% reduction (p < 0.0002) in bacterial burden in mice immunized intranasally with urease using either mutant LT as an adjuvant. These results indicate that the mechanism(s) underlying the adjuvant activities of mutant LTs towards coadmnistered H. pylori urease may differ between the IN and IG mucosal immunization routes.
Adjuvants, Immunologic/administration & dosage* ; Administration, Intranasal ; Animal ; Bacterial Toxins/immunology* ; Bacterial Toxins/genetics ; Bacterial Toxins/administration & dosage ; Enterotoxins/immunology* ; Enterotoxins/genetics ; Enterotoxins/administration & dosage ; Enzyme-Linked Immunosorbent Assay ; Escherichia coli* ; Feces ; Female ; Gastric Mucosa/microbiology ; Gastric Mucosa/immunology* ; Helicobacter pylori ; Human ; IgA, Secretory/immunology* ; IgG/immunology ; Mice ; Mice, Inbred BALB C ; Mutagenesis, Site-Directed ; NAD+ ADP-Ribosyltransferase/immunology ; NAD+ ADP-Ribosyltransferase/genetics ; Nasal Mucosa/immunology* ; Point Mutation ; Urease/immunology* ; Urease/administration & dosage ; Vaccination*

A previously healthy, 3-year-old boy presented to the emergency department with an afebrile focal motor seizure. He was found crying and having a seizure 30 minutes earlier. During this seizure, he was jerking his head and right extremities. Subsequent magnetic resonance imaging showed acute infarction in the bilateral frontal lobes, chiefly in the left. After hospitalization, conventional angiography demonstrated bilateral stenosis of the distal internal carotid arteries with development of lenticulostriate collaterals, which confirmed the diagnosis of moyamoya disease. It is vital to recognize focal motor seizures and situations related to hyperventilation in children with a seizure, which imply a structural lesion and a provoked cerebral ischemia in preexisting moyamoya disease, respectively.
Angiography ; Brain Ischemia ; Carotid Artery, Internal ; Child ; Child, Preschool ; Constriction, Pathologic ; Crying ; Diagnosis ; Emergencies ; Emergency Service, Hospital ; Extremities ; Frontal Lobe ; Head ; Hospitalization ; Humans ; Hyperventilation ; Infarction ; Ischemia ; Magnetic Resonance Imaging ; Male ; Moyamoya Disease ; Seizures ; Stroke ; Vasoconstriction

Epidemiological evidence suggests that the severity of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is lesser and morbidity and mortality rates are lower in children than in adults. Although respiratory viral infections are major triggers of asthma exacerbations in children, the association between asthma and SARS-CoV-2 infection remains unclear. We describe a previously healthy 13-year-old male adolescent who developed severe acute asthma exacerbation following coronavirus disease 2019 (COVID-19) infection. This case report describes new-onset asthma as severe exacerbation following COVID-19 infection and highlights the importance of ongoing surveillance of the wide spectrum of COVID-19 manifestations in children.

PURPOSE: This retrospective study was designed to know the relation between clinical features, genetics, and immunostaining findings among children with Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) and the validity of the diagnostic tools for muscular dystrophy. METHODS: The medical records and computerized databases of 93 patients diagnosed with DMD/BMD from June 1989 to December 2008 were reviewed retrospectively. Demographic characteristics including clinical features, serum creatinine kinase(CK) level, electromyogram(EMG) and nerve conduction velocity(NCV), muscle biopsy, immunochemical staining for dystrophin, and the deletion of dystrophin gene were analyzed. We calculate the concordance rate between type of frame (in or out of frame) and phenotype. RESULTS: 58(62%) children were diagnosed with DMD, 13(14%) BMD, 19(20%) unclassified dystrophy, and 3(3%) DMD/BMD carriers. The mean age of symptom onset was 5.0+/-3.5 years(range, 1-17). 46(49%) children presented gait disturbance and 35(37%) elevation of liver enzymes. The mean value of serum CK enzyme was 14,758+/-11,792 IU/L (range, 633-61,349). There was no dystrophin in the immunochemical stain among 48 DMD children and at least partial or incomplete dystrophin among 10 BMD children. 28/54(51%) children had dystrophin gene deletion in multiplex PCR and 13/14(92%) in Multiplex Ligation-dependent Probe Amplification(MLPA). The loss of heterozygosity was shown in 2 children by MLPA. The overall concordance rate between type of frame(in or out of frame) and phenotype was 95% in this study. CONCLUSION: Despite of small population, this finding indicates that the determination of type of frame (in or out of frame) by MLPA may be helpful in differential diagnosis of DMD/BMD. In addition, we surmise that the detection of carrier by MLPA is helpful in genetic counseling.
Biopsy ; Child ; Creatinine ; Diagnosis, Differential ; Dystrophin ; Gait ; Gene Deletion ; Humans ; Liver ; Loss of Heterozygosity ; Medical Records ; Multiplex Polymerase Chain Reaction ; Muscles ; Muscular Dystrophies ; Muscular Dystrophy, Duchenne ; Neural Conduction ; Phenotype ; Retrospective Studies

BACKGROUND: Mannose-binding lectin (MBL) deficiency leads to increased susceptibility to infection. We investigated whether serial changes in MBL levels are associated with the prognosis of patients diagnosed with septic shock, and correlated with cytokine levels. METHODS: We enrolled 131 patients with septic shock in the study. We analyzed the serum samples for MBL and cytokine levels at baseline and 7 days later. Samples on day 7 were available in 73 patients. RESULTS: We divided the patients with septic shock into four groups according to serum MBL levels ( < 1.3 µg/mL or ≥1.3 µg/mL) on days 1 and 7. Patients with low MBL levels on day 1 and high MBL levels on day 7 showed a favorable prognosis for 28-day survival (odds ratio, 1.96, 95% confidence interval, 1.10–2.87; p=0.087). The high MBL group on day 7 showed a significant decrease in monocyte chemoattractant protein 1, interleukin (IL)-1β, IL-6, IL-8, interferon-γ, and granulocyte macrophage colony-stimulating factor levels compared with the low MBL group on day 7. CONCLUSION: The increase in MBL levels of patients with septic shock may suggest a favorable prognosis and attenuate pro-inflammatory and anti-inflammatory responses.
Chemokine CCL2 ; Cytokines ; Granulocytes ; Humans ; Interleukin-6 ; Interleukin-8 ; Interleukins ; Macrophage Colony-Stimulating Factor ; Mannose-Binding Lectin* ; Prognosis ; Sepsis* ; Shock, Septic

PURPOSE: Visceral obesity is a more reliable indicator of cardiovascular risk factor than BMI. Our study was designed to compare the prevalence of visceral obesity in peritoneal dialysis (PD) patients to hemodialysis (HD) patients with abdominal fat CT in a single center. METHODS: In this cross sectional study, the result of abdominal fat CT of dialysis patients was investigated from January, 2007 to March, 2007 in Uijeongbu St. Mary s Hospital. To evaluate the risk factors related to visceral obesity, we analyzed patients medical records such as duration of dialysis, lipid profiles, anthropometric data and the presence of DM. RESULTS: We enrolled 65 HD patients and 67 PD patients. PD group had higher mean body weight, mean body mass index (BMI), and triglyceride level, compared to HD group. The PD group had higher visceral fat area, measured by abdominal fat CT than HD group. The prevalence of visceral obesity was higher in PD group than HD group. Visceral fat area showed positive co-relation with BMI in HD group, but did not in PD group. The age related prevalence of visceral obesity was significantly increased in the patients with older age group (>65). CONCLUSION: Our cross sectional study points to the fact that visceral obesity is more common in PD patients than HD patients. It is necessary to control weight and nutritional status, especially in PD patients for preventing metabolic complications.
Abdominal Fat ; Body Mass Index ; Body Weight ; Dialysis ; Humans ; Intra-Abdominal Fat ; Medical Records ; Nutritional Status ; Obesity ; Obesity, Abdominal ; Peritoneal Dialysis ; Prevalence ; Renal Dialysis ; Risk Factors