Campomelic syndrome is a very rare skeletal dysplasia with a characteristic pattern of deformity involving the proximal and distal extremities, pelvic and shoulder girdles, thoracic cage and palate. Respiratory compromise often leads to death in early infancy. Etiology has not been determined although evidence suggests genetic heterogeneity. Cytogenetic study revealed high incidence of a 46,XY karyotype in phenotypic females. Recently, we had experienced a case of campomelic dysplasia at amenorrhea 30weeks and termination was done, so we report with a brief review of literature.
Amenorrhea ; Campomelic Dysplasia* ; Congenital Abnormalities ; Cytogenetics ; Extremities ; Female ; Genetic Heterogeneity ; Humans ; Incidence ; Karyotype ; Palate ; Shoulder

No abstract available.
Estriol* ; Female ; Humans

Symptomatic Zinc Deficiency occurs due to decreased supplimentation, increased consumption, and decreased bowel absorption of the zinc. We report the typical case of symptomatic zinc deficiency in a patient who received total parenteral nutrition for about 4 weeks due to chronic diarrhea. And after supplementation with oral zinc sulfate, the diarrhea stopped in a day and skin lesions disappeared completely within a week.
Absorption ; Diarrhea ; Humans ; Parenteral Nutrition, Total* ; Skin ; Zinc Sulfate ; Zinc*

Pacemaker-mediated tachycardia (PMT) is a well-known complication of dual-chamber pacemaker with atrioventricular sensing and pacing (DDD) or atrial synchronous, ventricular demand pacemaker (VDD). PMT usually starts with sensing a retrograde P waves linked to ventricular extrasystole with retrograde ventriculoatrial conduction and forms reentrant or circus movement tachycardia with the pacemaker itself as an antegrade limb and the conducting tissue of the heart as a retrograde limb. Recently, a number of pacemaker manufactures have incorporated in their devices a variety of relatively complex algorithms to prevent PMT. Despite these measures, PMT may still occur because of inappropriate programming or unpredictable variations of ventri-culoatrial conduction. We report two cases of PMT in 78 year-old man and 60 year-old man who received DDD type pacemakers due to sick sinus syndrome, and a case of PMT in 69 year-old man who had suffered complete heart block and received a VDD type pacemaker. In these cases, we investigate symptoms, mechanism of PMT, programed parameters of pacemaker and treatments of PMT.
Aged ; Dichlorodiphenyldichloroethane ; Extremities ; Heart ; Heart Block ; Humans ; Middle Aged ; Sick Sinus Syndrome ; Tachycardia* ; Ventricular Premature Complexes

No abstract available.
Cleft Lip* ; Prenatal Diagnosis* ; Ultrasonography*

BACKGROUND: Depressive symptoms are common in the medically ill patients although depressive disorders are considerably underdiagnosed and undertreated. Therefore, we examined the characteristics of depressive tendency in medical inpatients. METHODS: The patient group-144 subj.cts(90 males, 54 females) were selected from medical inpatients of Kae Jung hospital. 158 subjects(106 male, 52 females) with no prior history of diseases were selected for the control group. The Beck Depression Inventory(BDI) and Hamilton Rating Scale for Depression(HRSD) was used for both groups from June to December 1997. RESULTS: The patient group had a significant higher BDI and HRSD score than controls(p<0.01). In the patients, 31.3% had scores on the BDI greater than the cutting score of 21, and 26.4% had scores on the HRSD greater than the cutting score of 22. In the patients, demographic and medical variables were evaluated with respect to depression. those in their 60's, with education level of elementary school and below. the divorced, bereaved and separated, and having duration of illness more than one year were statistically more depressed, but depression was not associated with sex, religion and medical diagnosis. CONCLUSIONS: This study indicates that depressive tendency may be a common phenomena in medically ill patients. Therefore, we should suspect depression in the management of these patients.
Depression ; Depressive Disorder ; Diagnosis ; Divorce ; Education ; Humans ; Inpatients* ; Male

BACKGROUND: Telomerase, an enzyme synthesizing telomere, plays an important role in cell immortalization and carcinogenesis. Telomerase activity is detected in large number of malignant tumors and also in precancerous lesions, such as intestinal metaplasia. It suggests that telomerase activation may be an early event in carcinogenesis. Helicobacter pylori (H. pylori) infection is the major carcinogen in gastric cancer. The aim of this study was to evaluate the relationship between telomerase activation and H. pylori infection in gastric cancer. METHODS: We measured telomerase activity and H. pylori infection using the tissues obtained by gastroduodenoscopy in 50 patients of gastric cancer. Telomerase activity was detected with a Telomerase PCR ELISA(R) kit and H. pylori infection was examined with a CLO(R) kit. RESULTS: Telomerase activity was detected in 32% of intestinal metaplasia and 72% of gastric cancer. The histological type, degree of differentiation, stage and ECOG performance status were found to be unrelated to telomerase activity. H. pylori infection was significantly higher in telomerase-positive patients of gastric cancer (p=0.016). Telomerase activity measured by photometric absorbance was significantly higher in intestinal metaplasia and cancers with H. pylori infection than in those without infection (p<0.05). CONCLUSION: This study suggested that H. pylori infection may induce telomerase activation in intestinal metaplasia and gastric cancer.
Carcinogenesis ; Helicobacter pylori* ; Helicobacter* ; Humans ; Metaplasia ; Polymerase Chain Reaction ; Stomach Neoplasms* ; Telomerase* ; Telomere

Miller-Dieker syndrome is a multiple malformation syndrome characterized by severe lissencephaly and characteristic facial abnormalities at birth. It is associated with visible or submicroscopic deletions within chromosome 17p13.3 including PAFAH1B1 (LIS1) gene. We report a six-month-old boy who presented with spasm and generalized myoclonic seizures. The patient was born at 40 weeks' gestation to a 36-year-old woman and showed developmental delay without microcephaly or prominent facial abnormality. Magnetic resonance imaging of the brain showed a few gyrus (lissencephaly). High resolution cytogenetic analysis from peripheral blood showed a normal karyotype. However, fluorescence in situ hybridization (FISH) of the metaphase chromosome using Miller-Dieker/ILS probe (Oncor, Gaithersburg, Maryland, USA) revealed only one signal of probe, indicating a microdeletion of 17pl3.3 region including PAFAH1B1 (LIS1) gene. We suggest that FISH 17p13.3 studies should be performed in addition to a standard metaphase analysis in patients with lissencephaly even if facial anomaly is not noted. A confirmatory diagnosis using FISH would be helpful in terms of leading to allow genetic counseling and availability prenatal diagnosis to the family.
Adult ; Brain ; Classical Lissencephalies and Subcortical Band Heterotopias* ; Cytogenetic Analysis ; Diagnosis ; Female ; Fluorescence ; Genetic Counseling ; Humans ; In Situ Hybridization ; Karyotype ; Lissencephaly ; Magnetic Resonance Imaging ; Male ; Maryland ; Metaphase ; Microcephaly ; Parturition ; Pregnancy ; Prenatal Diagnosis ; Seizures ; Spasm

Background/Aims: The diagnosis of small bowel Crohn’s disease with negative ileocolonoscopic findings has been challenging. Fecal calprotectin (FC) has been used to detect colonic inflammation, but its efficacy for detecting small bowel inflammation is less established. We performed an updated meta-analysis to evaluate the diagnostic accuracy of FC to detect active small bowel inflammation observed during capsule endoscopy. Methods: We conducted a systematic literature search for studies that evaluated the correlation between small bowel inflammation and FC in patients with suspected/established Crohn’s disease. We calculated the pooled sensitivity, specificity, and diagnostic odds ratios (DORs) and constructed hierarchical summary receiver operating characteristic curves for FC cutoffs of 50, 100, and 200 µg/g. Results: Fourteen studies were eligible for the final analysis. The DORs of all FC cutoffs were significant. The highest DOR was observed at 100 µg/g (sensitivity, 0.73; specificity, 0.73; and DOR, 7.89) and was suggested as the optimal diagnostic cutoff. If we analyzed only studies that included patients with suspected Crohn’s disease, the DOR was 8.96. If we analyzed only studies that included patients with a Lewis score ≥135 as a diagnostic criterion for active disease, the DOR was 10.90. Conclusions FC has significant diagnostic accuracy for detecting small bowel inflammation, and an FC cutoff of 100 µg/g can be used as a tool to screen for small bowel Crohn’s disease.

Background/Aims: The diagnosis of small bowel Crohn’s disease with negative ileocolonoscopic findings has been challenging. Fecal calprotectin (FC) has been used to detect colonic inflammation, but its efficacy for detecting small bowel inflammation is less established. We performed an updated meta-analysis to evaluate the diagnostic accuracy of FC to detect active small bowel inflammation observed during capsule endoscopy. Methods: We conducted a systematic literature search for studies that evaluated the correlation between small bowel inflammation and FC in patients with suspected/established Crohn’s disease. We calculated the pooled sensitivity, specificity, and diagnostic odds ratios (DORs) and constructed hierarchical summary receiver operating characteristic curves for FC cutoffs of 50, 100, and 200 µg/g. Results: Fourteen studies were eligible for the final analysis. The DORs of all FC cutoffs were significant. The highest DOR was observed at 100 µg/g (sensitivity, 0.73; specificity, 0.73; and DOR, 7.89) and was suggested as the optimal diagnostic cutoff. If we analyzed only studies that included patients with suspected Crohn’s disease, the DOR was 8.96. If we analyzed only studies that included patients with a Lewis score ≥135 as a diagnostic criterion for active disease, the DOR was 10.90. Conclusions FC has significant diagnostic accuracy for detecting small bowel inflammation, and an FC cutoff of 100 µg/g can be used as a tool to screen for small bowel Crohn’s disease.