Edwards syndrome is first introduced by Edwards and characterized by facial anomalies, multiple cardiovascular, gastrointestinal, urogenital, and skeletal malformations. It results from triplication of part or all of chromosome 18 in some or all of the patient's cells. It has an incidence of 1 in 4,500 live births or less and short life expectancy. Recently we experienced a case of 3-day-old female new born infant with this syndrome. Post mortem examination showed progeric face with prominent occiput, large flabby ears, microphthalmia, and micrognathia, bilateral clenched hands with flexion contraction of middle fingers, and bilateral rockerbottom feet. Internal examination revealed horseshoe kidney, esophageal atresia with tracheoesophageal fistula, two accessory spleens, and multiple cardiac anomalies. A trisomy 18 was confirmed by the cytogenetic study.
Infant ; Male ; Female ; Infant, Newborn ; Humans ; Incidence

No abstract available.
Chungcheongbuk-do* ; Leptospira interrogans* ; Leptospira*

No abstract available.
Family Practice* ; Humans ; Smoke* ; Smoking*

PURPOSE: Prader-Willi Syndrome(PWS) is caused by absence of paternal contributions of the chromosome region 15q11-q13. To detact this region, high resolutional cytogenetic analysis, FISH with probe at PWS critical region or microsatellite polymorphism can be used. The gene for the small nuclear ribonucleoprotein polypeptide N(SNRPN) is not expressed in patients with PWS. We conducted molecular analysis with RT-PCR with SNRPN primers to find out more useful diagnostic tool in PWS. METHODS: Four patients with obesity and other characteristics of PWS were studied. The exprssion of SNRPN and control gene were studed by RT-PCR from peripheral lymphocytes. RESULTS :The SNRPN expression in reverse transcribed RNA from blood were easily detected in normal control but not in patients with suspected Parder-Willi Syndrome. CONCLUSION: We conclude that SNRPN expression study is a useful diagnostic method for detection of Prader-Willi Syndrome.
Cytogenetic Analysis ; Humans ; Lymphocytes ; Microsatellite Repeats ; Obesity ; Pathology, Molecular* ; Prader-Willi Syndrome* ; Ribonucleoproteins, Small Nuclear ; RNA ; snRNP Core Proteins*

No abstract available.
Expressed Emotion* ; Humans

No abstract available.
Electrophoresis, Polyacrylamide Gel* ; Immunoblotting* ; Korea* ; Rickettsia typhi* ; Rickettsia*

Apoptosis is an intrinsic and fundamental biological process that plays a critical role in the normal development of multicellular organisms and in maintaining tissue homeostasis. Some of the well known regulators of apoptosis are cytokines of the tumor necrosis factor(TNF) ligand family, such as Fas ligand(Fas L) and TNF, which induce apoptosis by activation of their corresponding receptors, Fas and TNFR-1. Recently, a new member of the TNF family known as TRAIL (TNF-related apoptosis-inducing ligand) was identified and shown to induce p53-independent apoptosis in a variety of tumor cell lines but not in normal cells, Four human receptors for TRAIL were also recently identified and designated TRAIL-R1, -R2, -R3, and -R4. The aim of this study is to examine whether TRAIL and TRAIL receptots(-R1, -R2, -R3) are expressed in uterine cervical cancer and whether it is correlated with apoptosis, TRAIL and TRAIL receptors. The subjects were 20 patients who were diagnosed with cervical cancer. Western blotting was performed in 9 cases, immunohistochemical staining for TRAIL and TRAIL receptors(-R1, -R2, -R3) and TUNEL method for detection of apoptosis in 11 cases. There were proteins for TRAIL, TRAIL-R1, -R2, and -R3 in tissues from cervical cancer. All TRAIL receptors were expressed in both normal cervical epithelium and tumor cells, and TRAIL-Rl and -R2 were more strongly expressed in tumor cells than normal epithelium(p<0.05). Apoptosis correlated with expression of TRAIL-Rl and -R2(p<0.05). This study suggests that TRAIL induces apoptosis in cervical cancer through its receptors.
Antigens, CD95 ; Apoptosis ; Biological Processes ; Blotting, Western ; Cell Line, Tumor ; Cytokines ; Epithelium ; Homeostasis ; Humans ; In Situ Nick-End Labeling ; Necrosis ; Receptors, TNF-Related Apoptosis-Inducing Ligand* ; Uterine Cervical Neoplasms*

MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is one of the mitochondrial encephalomyopathy, A rare disease caused by a disturbance of the mitochondrial chain of respiration. MELAS is confirmed by typical light and electron microscopic findings : "ragged red fibers" by modified Gomori trichrome stain on light microscope and numerous abormal mitochondria on electron microscope. We experienced a boy with the characteristic clinical and pathologic findings of MELAS. Our patient demonstrated bilateral basal ganglia calcifications and infarction at right parieto-occipital and thalamic areas on CT and MR We found that MRI was more sensitive and represented the infarcted lesions better than CT. Detection of cerebral insults of MELAS by MRI is important in making decision on patient treatment and also in predicion of the patient prognosis.
Acidosis, Lactic ; Basal Ganglia ; Brain Diseases ; Child* ; Humans ; Infarction ; Magnetic Resonance Imaging ; Male ; MELAS Syndrome* ; Mitochondria ; Mitochondrial Encephalomyopathies ; Muscular Diseases ; Rare Diseases ; Respiration

No abstract available.
Priapism* ; Prostate* ; Prostatic Neoplasms*

No abstract available.
Priapism* ; Prostate* ; Prostatic Neoplasms*