Developmental venous anomalies are congenital anomalies of the intracranial venous drainage and clinically asymptomatic. Cavernous hemangiomas are vascular malformations composed of dilated vascular channels lined with a single layer of endothelial cells without any intervening normal neural tissue. Although, cavernous hemangioma may be clinically silent, but frequently cause variable neurologic manifestations; intracranial hemorrhage, seizures, and focal neurologic deficits. Frequent association of these two diseases has already been reported and it has been suggested that cavernous hemangiomas not the developmental venous anomalies that cause the acute clinical symptoms. A 4 year old girl with sudden onset of headache, vomiting, gait disturbance and signs of unilateral cerebellar dysfunction 2 days before admission showed a 2.5x2.5cm sized hematoma with heterogenous signal intensity both in CT and MRI in the left cerebellar hemisphere. Four-vessel cerebral angiography revealed characteristic findings of developmental venous anomalies. Pathologic findings of the surgically removed hematoma disclosed typical feature of cavernous hemangioma. Based on the findings in this case and review of the literatures, we concluded that the possibility of other diseases such as cavernous hemangiomas must be considered in patients who has intracranial hemorrhage due to the developmental venous anomalies.
Cerebellar Diseases ; Cerebral Angiography ; Child, Preschool ; Drainage ; Endothelial Cells ; Female ; Gait ; Headache ; Hemangioma, Cavernous* ; Hematoma ; Hemorrhage* ; Humans ; Intracranial Hemorrhages ; Magnetic Resonance Imaging ; Neurologic Manifestations ; Seizures ; Vascular Malformations ; Vomiting

E-cadherin is a calcium-dependent epithelial adhesion molecule which plays a role in the initial step of invasion of cancer cells. The step that follows the migration of separated tumor cells is a proteolytic lysis of basement membrane and extracellular matrix by protease of epithelial and endothelial cells such as matrix metalloproteinase (MMP). Vascular endothelial growth factor (VEGF) is known to be an endothelial cell-specific powerful mitogen as well as a vascular permeability factor. This study is aimed to evaluate the correlation between expression of these factors and pathologic or clinical variables and the roles and prognostic significance of those factors in squmous cell carcinoma and adenocarcinoma of the lung. Immunohistochemical stains were performed for E-cadherin, MMP-2, and VEGF in surgically resected specimens from 90 patients with squmous cell carcinoma and adenocarcinoma of the lung. Mean age of the patients was 59.7 years. Histologic type was categorized into 56 cases of squamous cell carcinoma and 34 cases of adenocarcinoma. Mean survival period of the 35 patients was 54 months. The immunohistochemical stains for E-cadherin, MMP-2, and VEGF revealed positive reaction in 67 cases (74.4%), 43 cases (47.8%), and 34 cases (37.8%), respectively. The expression of E-cadherin was higher in adenocarcinoma (82.4%) than in squamous cell carcinoma (69.6%). MMP-2 was expressed in the tumor cells, especially those invading into the surrounding stroma. The expression of MMP-2 was significantly correlated with the survival rate (p<0.05). The expression of VEGF in the tumor cells was significantly higher in cases with lymph node metastasis (p<0.05). In conclusion, these findings suggest that the expression of MMP-2 and VEGF predict poor prognosis of patients with squmous cell carcinoma and adenocarcinoma of the lung and that VEGF may play a role in tumor metastasis.
Adenocarcinoma* ; Basement Membrane ; Cadherins* ; Carcinoma, Squamous Cell* ; Coloring Agents ; Endothelial Cells ; Extracellular Matrix ; Humans ; Lung* ; Lymph Nodes ; Neoplasm Metastasis ; Prognosis ; Survival Rate ; Vascular Endothelial Growth Factor A*

PURPOSE: This study was designed to define normal values for a nongeometric MPI in children and evaluate the utility of m%cardial performance index(MPI) in congenital heart disease with distorted ventricular geometry. METHODS: The study population consisted of 44 normal patients and 28 patients with atrial septal defect(ASD) with dilated right ventricle and paradoxical septal motion. Right ventricular(RV) and left ventricular(LV) isovolumic contraction time, isovolumic relaxation time, ejection time, ejection fraction and pre-ejection period/ejection time(PEP/ET) were measured using conventional echo- Doppler methods. The MPI measures the ratio of total time spent in isovolumic activity(isovolumic contraction time and isovolumic relaxation time) to ejection time. RESULTS: In normal children, the RV MPI was 0.33+/-0.09 and the LV MPI was 0.36+/-0.04. In the ASD group, LV function seemed grossly normal but LV EF was significantly lower than normal children(57+/-3% vs 67+/-4%, P<0.05), but both LV and RV MPI had no statistically significant difference. After correction of ASD, RV MPI was increased and LV EF(57+/-3% vs 64+/-3%, P<0.05) as wll as the RV PEP/ET(0.27+/-0.05 vs 0.38+/-0.06, P<0.05) were significantly greater than the normal or the preoperation group. CONCLUSION: Components of the MPI are easily measured with conventional Doppler technique using standard echocardiographic examination. These results suggest that the MPI is useful as a means of quantitative assessment of ventricular performance in patients with complex ventricular geometry, particularly RV.
Child ; Echocardiography ; Heart Defects, Congenital ; Heart Septal Defects, Atrial* ; Heart Ventricles ; Humans ; Reference Values ; Relaxation ; Ventricular Function*

No abstract available.
Lichen Sclerosus et Atrophicus* ; Lichens*

No abstract available.
Pityriasis Rubra Pilaris ; Pityriasis ; Ustekinumab

BACKGROUND: Complex regional pain syndrome (CRPS) is categorized into sympathetically maintained pain (SMP) and sympathetically independent pain (SIP). Spinal cord stimulation (SCS) is a promising approach in the treatment of severely disabling CRPS. Patients with good responses to sympathetic block before SCS are more likely to have positive responses to SCS than those with negative responses. This study compared the effects of SCS in patients with CRPS, of SMP and SIP categories. METHODS: This was a retrospective study of 16 patients (SMP 8, SIP 8) with CRPS who had undergone trials of SCS. Eleven of the patients had permanent SCS device implants, and the pain relief levels at 1 and 6 months were recorded. RESULTS: Sixteen patients with severe, incapacitating, and therapy-resistant CRPS underwent SCS trials. Five patients (SMP 3, SIP 2) had poor pain relief during the trial despite adequate coverage. The remaining 11 patients (SMP 5, SIP 6) had permanent electrode implantation performed under local anesthesia and experienced good pain relief. The difference in VAS reduction was not significant between the two groups at the 1-month follow-up (P = 0.325) and the 6-month follow-up (P = 0.779). CONCLUSIONS: There were no statistically significant differences in VAS pain scores between the two groups. The favorable outcome in all 11 patients with only minor remaining symptoms or without remaining symptoms or severe recurrences suggests that SCS is an efficient treatment in SMP and SIP.
Anesthesia, Local ; Electrodes ; Follow-Up Studies ; Humans ; Recurrence ; Retrospective Studies ; Spinal Cord ; Spinal Cord Stimulation

Trisomy 12p is an extremely rare disorder, in fact approximately 30 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation of t(12;18), thus the offspring inherit such a gene. In this report, the father's chromosomal arrangement was 46, XY, t(12;18)(p12.1;p11.31) and the mother had a normal chromosomal arrangement. We identified a neonate with a short- neck, round face, prominent forehead, long philtrum, low-set ears, imperforated anus and congenital megacolon. We then carried out a chromosomal study and diagnosed the trisomy 12p. If one or both parents are known carriers, it is strongly suggested to perform amniocentesis or chorionic villus sampling for every pregnancy and it is also recommended that potential parents receive genetic counseling before any pregnancy.
Amniocentesis ; Anal Canal ; Chorionic Villi Sampling ; Ear ; Female ; Forehead ; Genes, vif ; Genetic Counseling ; Hirschsprung Disease ; Humans ; Infant, Newborn ; Lip ; Mothers ; Neck ; Parents ; Pregnancy ; Trisomy*

Hereditary hemochromatosis (HFE), which affects 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals in Western population, results in multiple organ damage caused by iron deposition, and is treatable if detected early. C282Y mutation in HFE gene has been known to be responsible for the most hereditary hemochromatosis cases and 5-10% of white subjects are heterozygous for this mutation. However, the prevalence of hemochromatosis in the Asian population was reported to be very low and ethnic heterogeneity has been suspected. The aim of our study was to determine the prevalence of heterozygosity and homozygosity for the C282Y HFE gene mutations in 502 unrelated Koreans. Results revealed that none of them had the mutant gene, suggesting a significant ethnic difference when compared with Caucasians. Our study excluded underlying possibility of hereditary hemochromatosis in Korean which could mimic the findings of alcoholic liver disease with iron overload or liver cirrhosis with chronic hepatitis C.
Alleles ; Caucasoid Race/genetics* ; DNA Primers ; Genetic Screening ; Genotype ; HLA Antigens/genetics ; Hemochromatosis/genetics* ; Hemochromatosis/ethnology* ; Histocompatibility Antigens Class I/genetics ; Human ; Korea/epidemiology ; Mongoloid Race/genetics* ; Point Mutation* ; Prevalence

PURPOSE: H. pylori infection is thought to contribute to iron-deficiency anemia, especially during puberty. The ferritin protein Pfr of H. pylori is homologous to eukaryotic and prokaryotic ferritins. The purpose of this study was to analyze the H. pylori pfr status in gastric biopsy specimens according to clinical data, including antral gastritis with or without iron-deficiency anemia. METHODS: A total of 26 H. pylori-positive patients aged from ten to 18 years were categorized into subgroups based on the presence or absence of iron-deficiency anemia. All of them had antral gastritis. Sixteen patients were proved to have iron-deficiency anemia by hematological study, two of which had a duodenal ulcer. The other ten patients showed normal hematological findings. DNA isolation was performed from each of the gastric biopsy specimens. PCR amplification of the pfr gene coding was done using two sets of primers. The pfr region, 501 bp, was generated by linking the sequences of the two PCR products. The nucleotide and protein sequences were compared between the pfr regions from Korean H. pylori strains and the NCTC 11638, 26695, and J99 strain, which were obtained from the Genbank. Sequence comparisons were also performed for the pfr regions between the iron-deficiency anemia (+) and (-) groups. RESULTS: Analysis of the complete coding region of pfr gene revealed three sites of mutation. The Ser39Ala mutation was found in 100% (26/26), Gly111Asn in 26.9% (7/26), and Gly82Ser in 11.5% (3/26). There were no significant differences in the mutations of the pfr regions between the iron deficiency anemia (+) and (-) groups. CONCLUSION: The mutation in the pfr gene did not relate with the clinical phenotype, iron deficiency anemia. Further studies are needed on the aspects of host side or other complex factors to elucidate anemia. Further studies are needed on the aspects of host side or other complex factors to elucidate the mechanisms by which the H. pylori infection might lead to iron deficiency anemia.
Adolescent ; Anemia ; Anemia, Iron-Deficiency* ; Biopsy ; Clinical Coding ; Databases, Nucleic Acid ; DNA ; Duodenal Ulcer ; Ferritins ; Gastritis ; Helicobacter pylori* ; Helicobacter* ; Humans ; Iron* ; Phenotype ; Polymerase Chain Reaction ; Puberty

Background: Sweet syndrome is characterized by tender erythematous plaques and nodules with predominantly dermal neutrophilic infiltrates. Sweet syndrome is relatively rare in children and adolescents. To date, only a few cases have been reported in Korean literature. Objective: The aim of this study was to investigate the clinical and histopathological features of Sweet syndrome in Korean children and adolescents. Methods: A retrospective study was conducted on 15 pediatric patients (aged ＜18 years) who were diagnosed with Sweet syndrome between 1991 and 2019. We reviewed the clinical and histopathological features of Sweet syndrome. Results: The age of the 15 patients ranged from 4 months to 17 years. Among the 15 patients with Sweet syndrome, nine patients were females and six patients were males. Most patients (80%) had lesions on the upper extremities. Fever and tenderness (60%) were the most commonly associated symptoms. Transient infections such as upper respiratory infection or gastroenteritis were the most common identifiable cause, observed in 40% of patients. Histopathologically, dermal neutrophilic infiltration was observed in all patients. All patients were treated with systemic corticosteroids and showed a good response, although 26.7% of the patients experienced symptom recurrence.During the follow-up period, there were no incidences of any complications or extracutaneous manifestations in the patients. Conclusion In contrast to previous reports of pediatric Sweet syndrome, female predominance was observed in this study. Transient infection was the most common factor. All patients responded well to systemic corticosteroid therapy without complications or extracutaneous manifestations during the follow-up period.