We report a case of epidermolysis bullosa simplex occurred in a 12-year-old girl, who presented with intractable bullous lesions of the hands and feet after minor traumas ever since her early neonatal period. The bullous lesions were noted on the 2nd and 4th webs of the fingers and dorsum of the hands as well as on the skin of the ankle. The lesions were healed without scar formation. Family history was not contributary and seasonal pattern was not noted. Histologic sections revealed intraepidermal bullae just above the well preserved basement membrane. Electron microscopic findings revealed cytolysis of basal cells with preservation of the basement membrane, indicating the epidermal type of epidermolysis bullosa simplex.
Infant, Newborn ; Humans

We investigated whether the two variant elements of CRE(TGcCGTCA[5'CRE], TGACcTCA[3'CRE]) in the 5'flanking region of the rat TRH gene, which are different from the CRE consensus sequence(5'-TGACGTCA-3') by one base pair, are responsive to cAMP, and whether the one base pair difference is responsible for the degree of cAMP responsiveness of the gene. When CA 77 cells were stimulated with forskolin and isobutylmethylxanthine for 4 hours, the level of TRH mRNA was increased by only two fold. The transient gene expression study using serial 5'deletion of the TRH gene in PC12 cells showed that the region between-113 and-77, which includes 5'CRE, was crucial for the cAMP resonsiveness. When the plasmid, which contains the 30 bp oligonucleotide including either 5'CRE or 3'CRE ligated to the enhancerless RSV promoter, was transfected into PC12 cells, it did not significantly affect not only the basal transcription but cAMP responsiveness. The 65 bp oligonucleotide including both 5'CRE and 3'CRE, however, increased both of the basal transcription and cAMP-stimulated transcription by 2-3 fold. When the sequence of 5'CRE was converted to that of the CRE consensus by replacing one base pair, the cAMP responsiveness was increased by two fold although the basal transcription was not increased. The one base pair mutant of 3'CRE increased both of the basal and cAMP-stimulated transcription by 3-4 fold. These results suggest that there are the two variant CREs in rat TRH gene, which are relatively weak CRE compared to the CREs of other neuropeptide genes and cooperative for the activation of both the basal and cAMP-stimulated transcription. The one base pair difference of the variant CREs from the CRE consensus sequence is responsible for the weak responsiveness to cAMP.
Animals ; Base Pairing ; Colforsin ; Consensus ; Consensus Sequence ; Cyclic AMP ; Gene Expression ; Neuropeptides ; PC12 Cells ; Plasmids ; Rats ; Response Elements ; RNA, Messenger ; Thyrotropin ; Thyrotropin-Releasing Hormone

No abstract available.
Azithromycin* ; Pregnancy* ; Scrub Typhus*

Liver function tests before treatment showed abnormalities of liver function tests during treatment, while 15(68. 2%) of 22 patients who had abnormal liver function tests before treatment showed abnormalities during treatment. In 12 of the 25 patients who showed abnormalities of liver function tests during treatment with allopurinol, allopurinol was stopped and all patients showed improvement of liver function tests. In remaining 13 patients, 10 patients were improved and other 2 patients showed only mild abnormalities of liver function tests despite of continuing allopurinol and 1 patient was lost during follow-up. CONCLUSION: Abnormalities of liver function tests were common during treatment with allopurinol. Most patiensts who had mild abnormalities of liver functions tests during treatment with allopurinol were improved regardless of continuing allopurinol.
Allopurinol* ; Follow-Up Studies ; Gout* ; Humans ; Liver Function Tests* ; Liver*

We performed this study to show that it is possible to identify underlying causes of de ath not identif ied by issued death certificates by mapping and adding information from National Database(DB) such as health insurance DB or KUHDDS(Korea Uniform Hospital Discharge Data Sets) with death certificates. We collected 2,986 death certificates issued at Cheonan, Asan provinces and 458 death certificates issued at 3 general hospitals at Chenoan city. Mapping of death certificate data with health insurance DB was possible in 77.4%(Cheonan, Asan provinces) and 87.3%(3 general hospitals at Cheonan city) of cases. Rate of underlying causes of death identified from records on death certificates before mapping was 64.4% and 68.3% each. After mapping and adding information from health insurance DB, the rate increased to 79.8% and 79.2% each. This work was done by skilled medical record officers. We also selected death certificates which recorded the causes of deaths as old age, cardiopulmonary arrest, or nonspecific symptoms. The possibility was shown that old age, ca rdiopulmonary a rrest, and nonspecific symptoms can be corrected by information from mapped health insurance DB and KUHDDS. With these results, we discussed some cause of incorrect recording practices. And we suggested simple but practical method to improve the correctness of death certificates; there is a possibility that comparing death certificates with KUHDDS before it is issued, where available, can improve the quality of death certificate.
Cause of Death* ; Chungcheongnam-do ; Death Certificates* ; Heart Arrest* ; Hospitals, General ; Insurance, Health ; Medical Records

PURPOSE: Recent studies have revealed close relationships between hepatic injury, metabolic pathways, and gut microbiota. The microorganisms in the intestine also cause irritable bowel syndrome (IBS). The aim of this study was to examine whether IBS was associated with elevated hepatic enzyme [alanine aminotransferase (ALT) and aspartate aminotransferase (AST)], gamma-glutamyl transferase (gamma-GT) levels, and metabolic syndrome (MS). MATERIALS AND METHODS: This was a retrospective, cross-sectional, case-control study. The case and control groups comprised subjects who visited our health promotion center for general check-ups from June 2010 to December 2010. Of the 1127 initially screened subjects, 83 had IBS according to the Rome III criteria. The control group consisted of 260 age- and sex-matched subjects without IBS who visited our health promotion center during the same period. RESULTS: Compared to control subjects, patients with IBS showed significantly higher values of anthropometric parameters (body mass index, waist circumference), liver enzymes, gamma-GT, and lipid levels. The prevalences of elevated ALT (16.9% vs. 7.7%; p=0.015) and gamma-GT (24.1% vs. 11.5%; p=0.037) levels were significantly higher in patients with IBS than in control subjects. A statistically significant difference was observed in the prevalence of MS between controls and IBS patients (12.7% vs. 32.5%; p<0.001). The relationships between elevated ALT levels, MS, and IBS remained statistically significant after controlling for potential confounding factors. CONCLUSION: On the basis of our study results, IBS may be an important condition in certain patients with elevated ALT levels and MS.
Adult ; Alanine Transaminase/analysis/*metabolism ; Aspartate Aminotransferases/analysis/*metabolism ; Body Mass Index ; Case-Control Studies ; Cross-Sectional Studies ; Female ; Humans ; Irritable Bowel Syndrome/diagnosis/*enzymology/epidemiology ; Liver/metabolism ; Male ; Metabolic Syndrome X/complications/diagnosis/*enzymology/epidemiology ; Middle Aged ; Obesity/epidemiology ; Prevalence ; Retrospective Studies ; Waist Circumference ; gamma-Glutamyltransferase/analysis/*metabolism

The balloon dilatation or Savary-Gilliard dilatation was performed in 59 patients with benign esophageal stricture in Chungnam National University Hospital from September 1990 to August 1995. We reviewed the effect and the safty of each therapeutic method and the results were as foillows: 1) The cause of stricture were corrosive stricture(28 cases, 49,4%), anastomotic stenosis after gastroesophageal surgery(26 cases, 44.1%), stricture after endoscopic variceal sclerotherapy(3 cases, 5.1%), esophageal web(1 case, 1.7%) or stricture complicated by reflux esophagitis(l case). 2) The overall cure rate of balloon dilatation was 50%(l2/24 cases) and that of Savary-Gilliard dilatation was 77.1%(27/35 cases). The Savary-Gilliard dilatation group had a better result than the balloon group. 3) The perforation after Savary-Gilliard dilatation occurred in 4 cases~(6.7%). One case was treated surgically and three cases wiere treated medically. But there was no fatal complication. 4) The overall cure rate of anastomotic stenosis was 84.6%(32/38 cases) and that of corrosive stricture was 46.4%(13/28 cases). 5) The cure rate of Savary-Gilliard dilatation in corrosive esophageal stricture was 64.7%(ll/17) and that of balloon dilatation was 18.1%(2/11). 6) According to site of stricture, the cure rate of dilatation was 84.2% (32/38) in thoracic esophagus, 42.8%(3/7) in cervical esophagus and 28,5%(4/14) in multiple or long segmented stricture.(continue...)
Chungcheongnam-do ; Constriction, Pathologic ; Dilatation* ; Esophageal Stenosis* ; Esophagus ; Humans

PURPOSE: This study was undertaken to identify factors influencing fecal incontinence in rectal prolapse. METHODS: The clinical and anorectal physiologic data (anal manometry, rectal sensitivity test, pudendal nerve terminal motor latency (PNTML)) of 42 complete rectal prolapse patients were collected in a prospective database and were analyzed according to Wexner's incontinence score (0-20). RESULTS: The mean Wexner's incontinence score was 10.6. Females (n=24) were more prone to be incontinent than males (n=18)(incontinence score 14.8 vs 5.1, p<0.001). A linear regression analysis showed that increased age (r= 0.497, p=0.001), decreased maximum resting pressure (MRP) (r= 0.686, p<0.001), decreased maximum squeezing pressure (MSP)(r= 0.789, p<0.001), decreased maximal rectal tolerable volume (MTV) (r= 0.386, p=0.012) influenced the incontinence score. An absent rectoanal inhibitory reflex (RAIR) was not related to incontinence, but was related to significantly low resting anal pressure. Delayed PNTML did not influence incontinence or the MSP. In a multiple regression analysis, decreased MRP (beta= 0.383; p=0.002), decreased MSP (beta= 0.345; p =0.007) and female gender (beta=0.343; p=0.006) influenced incontinence significantly. CONCLUSIONS: Major factors influencing fecal incontinence in complete rectal prolapse were decreased MRP and MSP. Female patients were more prone to fecal incontinence than males. RAIR and MTV were not significant factors. PNTML did not show any relation to incontinence score or the anal pressure.
Fecal Incontinence* ; Female ; Humans ; Linear Models ; Male ; Manometry ; Prospective Studies* ; Pudendal Nerve ; Rectal Prolapse* ; Reflex

BACKGROUND/AIMS: Endoscopic submucosal dissection (ESD) is not commonly used in the colorectal area because of technical difficulty and due to the characteristics of the organ. We therefore wanted to determine the efficacy and safety of endoscopic submucosal dissection in colorectal neoplasms. METHODS: Colorectal tumor lesions resected by ESD in a single medical center were analyzed retrospectively. RESULTS: A total of 47 patients were treated for 50 lesions. Mean age was 64.3+/-9.8 (43~85) years. Laterally spreading tumors were the most common type (44, 88%) followed by Is+IIa type tumors (6, 12%). The en bloc resection rate was 76% and the complete resection rate was 74%. The mean procedure time was 81.1+/-44.7 (20~180) minutes. The mean size of resected specimen was 26.9+/-10.4 (10~50) mm. The histological diagnosis determined that 24 lesions (48%) were tubular adenoma, 18 lesions (36%) were intramucosal cancer, 7 lesions (14%) were sm1 cancer and 1 lesion (2%) was over sm2 cancer. Bleeding occurred in 6 (12%) and perforations in 13 (26%) of the patients and all were treated successfully by endoscopic or conservative treatment. The concordance rate of pre and post ESD pathological diagnosis was only 47%. CONCLUSIONS: ESD is a feasible technique for treating superficial colorectal tumors with a high complete resection rate, minor invasiveness, and a high safety rate. In addition, ESD might be useful in establishing the complete pathological evaluation of colorectal epithelial neoplasm.
Adenoma ; Colorectal Neoplasms ; Hemorrhage ; Humans ; Neoplasms, Glandular and Epithelial ; Retrospective Studies

A 9-year-old Korean boy with lissencephaly was found dead at home. He had previously been diagnosed with lissencephaly that presented with infantile spasm on the basis of magnetic resonance imaging and electroencephalogram results. Antemortem chromosomal banding revealed a normal karyotype. A legal autopsy was requested to eliminate the possibility of neglect or abuse by his parents. The autopsy findings revealed type I lissencephaly with the associated microcephaly. No external wounds or decubitus ulcers were noted. Postmortem fluorescence in situ hybridization for the LIS1 locus and nucleotide sequence analysis of the whole coding regions of the LIS1 gene did not reveal any deletions. The antemortem and postmortem findings revealed that lissencephaly syndrome was associated with isolated lissencephaly sequence. External causes of death were excluded by the full autopsy and toxicology test results. Because patients with mental retardation are frequently victimized and suffer neglect or abuse, thorough external and internal examinations should be conducted at the time of autopsy.
Autopsy ; Base Sequence ; Cause of Death ; Child ; Child Abuse ; Classical Lissencephalies and Subcortical Band Heterotopias ; Clinical Coding ; Electroencephalography ; Fluorescence ; Forensic Pathology ; Humans ; In Situ Hybridization ; Infant ; Infant, Newborn ; Intellectual Disability ; Karyotype ; Lissencephaly ; Magnetic Resonance Imaging ; Microcephaly ; Parents ; Pressure Ulcer ; Spasms, Infantile ; Toxicology