Prader-Willi syndrome(PWS) was first described by Prader et al in 1956. This syndrome is characterized by diminished fetal activity, low birth weight, infantile hypotonia with feeding problem, temperature instability, early onset of childhood hyperphagia with consequent obesity, short stature, hypogonadism and mental retardation. The deletion of chromosome 15(del 15(qll-13)) was reported by Ledbetter in 1981, which was thought to be of paternal origin. Recently, such micro- deletion may be diagnosed by fluorescence in situ hybridization(FISH) that recognizes specific DNA base sequence. We experienced a Prader-Willi syndrome confirmed by FISH in an infant that had hypotonia, growth retardation, feeding difficulty and FUO since 1 month of age. We report this case with a brief review and related literature.
Base Sequence ; DNA ; Fetal Movement ; Fluorescence ; Humans ; Hyperphagia ; Hypogonadism ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Intellectual Disability ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome*

Fryns syndrome is a lethal syndrome of multiple congenital anomalies first described by Fryns et al in 1979. A recently developed major diagnostic criteria includes abnormal face, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, lung hypoplasia with diaphragmatic hernia, central nervous system anomalies and congenital heart disease. The pathogenesis of Fryns syndrome is not clear. Of the major immediate life-threatening abnormalities of this syndrome, lung hypoplasia associated with diaphragmatic hemia has usually proven to be fatal. We report a case of Fryns syndrome, which has the prenatal ultrasonographic findings of Dandy-Walker malformation and renal hypoplasia.
Central Nervous System ; Dandy-Walker Syndrome ; Extremities ; Heart Defects, Congenital ; Hernia, Diaphragmatic ; Lung ; Nipples ; Thorax

The variable clinical responses seen with rnost cancer immunotherapy suggests that there is a large interindividual variation in immunoiogic response to tumors. One of the key functional parameter.s of an immune response is the loca1 production of cytokines. These multifunctional cytokines have been implicated in growth stimulation and cytotoxicity of ovarian tumor celle. To determine the presence and quantities of cytokines in ovarian cancer tissue, the cons-titutive expression of cytokine mRNA in biopsies from epithelial ovarian carcinomas was determined by using a PCR-assisted mRNA amplification asssy(RT-PCR). Using a set of cytokine-specific primers for 14 different cytokines, distinctive patterns of cytokine gene expression between normal and malignant ovarian tissues could be found. Several cytokines were detected even in the norma1 ovarian tissue including IL-1A, IL-8, TGF-A, TGF-B, GM-CSF, and IL,-2R. In case of the ovarian cancer, the signals were more intense than normal and we could detect the expression of some other cytokines, such as IL-1B, IL- 4, IL-6, IL-l0, TNF, and INF-T, which could not be detected in normal tissue. The presence of eytokines in ovarian cancer tissue could be impartant in the growth and development of cancer, more specifically, in relation to host immune responsiveness.
Biopsy ; Cytokines ; Gene Expression* ; Granulocyte-Macrophage Colony-Stimulating Factor ; Growth and Development ; Immunotherapy ; Interleukin-6 ; Interleukin-8 ; Ovarian Neoplasms* ; RNA, Messenger

BACKGROUND: The New Bethesda System terminology has opened a series of problems about the atypical squamous cells of undetermined significance and low grade squamous intraepithelial lesion categories, particularly on their follow up. METHODS: We observe 12300 Pap smear examination, from jan 1995 to Dec 1999, in the Health promotion Center in a university hospital. Subjects were defined a the Health Promotion Center in a university hospital by electrical record and chart review. RESULTS: We find 48 cases of ASCUS and 33 cases of LSIL. When it is followed up by Pap smear, 34 cases of ASCUS are confirmed normal 19 cases(55.9%), benign cellular change 6 cases(17.6%), ASCUS 5 cases(14.7%), HSIL 4 cases(11.8%) and 27 cases of LSIL are confirmed normal 11 cases(40.7%), benign cellular change 3 cases(11.1%), ASCUS 3 cases(11.1%), LSIL 8 cases(29.6%), HSIL 2 cases(7.4%). 14 cases of ASCUS and 23 cases of LSIL are diagnosed by biopsy. Hostologic results of 14 cases of ASCUS are confirmed cervicitis 10 cases(71.4%), Moderate dysplasia 2 cases(14.3%), carcinoma in sute 2 cases(14.3%) and histologic results of 23 cases of LSIL are confirmed cervicitis 15 cases(65.2%), mild dysplasia 3 cases(13%), moderated dysplasia 3 cases(13%), sever dysplasia 1 cases(4.3%), carcinoma in situ 1 case(4.3%). Pap smear only was used for follow-up at family medicine clinic and 14 cases(29.2%), 4 cases(12.1%) are follow-up loss. CONCLUSION: After it is diagnosed ASCUS or LSIL Lesion of Pap smear in healthy care visitors, Follw-up loss is high in only follow-up Pap smear examination and follow-up results are presented more we severe lesions. To reduce follow-up loss, aggressive diagnosis and managements may be needed more than Pap smear follow-up examination.
Biopsy ; Carcinoma in Situ ; Diagnosis ; Follow-Up Studies* ; Health Promotion ; Humans ; Uterine Cervicitis

OBJECTIVE: To evaluate the changes of plasma MMP-2, -9 levels in preeclampsia between antepartum and postpartum periods, and compare with normotensive pregnant. METHODS: Plasma MMP-2, -9 levels were determined with enzyme-linked immunoassay in pregnant women with preeclampsia (n=20) compared to control group (normotensive pregnant women) matched by maternal age, gestational age, and parity (n=20). RESULTS: Women with preeclampsia presented significantly higher plasma level of MMP-2 before delivery [516.33 +/- 98.75 vs 384.55 +/- 93.84 (ng/mL), p=0.002]. In postpartum 24 hours, women with preeclampsia exhibited higher plasma MMP-2 level compared control group [534.77 +/- 158.67 vs 336.04 +/- 139.11 (ng/mL), p=0.002]. But the plasma level of MMP-9 was significantly lower in preeclampsia group before delivery [26.26 +/- 7.49 vs 45.00 +/- 20.31 (ng/mL), p=0.001]. In postpartum 24 hours, women with preeclampsia also speculated lower plasma MMP-9 level compared control group, but no existence of significance. CONCLUSION: Plasma MMP-2 concentration is significantly increased in preeclampsia before delivey and postpartum 24 hours. Plasma MMP-9 concentration is significantly decreased in preeclampsia before delivery.
Female ; Gestational Age ; Humans ; Immunoassay ; Maternal Age ; Matrix Metalloproteinase 2 ; Matrix Metalloproteinase 9 ; Parity ; Plasma* ; Postpartum Period* ; Pre-Eclampsia* ; Pregnant Women

OBJECTIVE: To evaluate the changes of plasma MMP-2, -9 levels in preeclampsia between antepartum and postpartum periods, and compare with normotensive pregnant. METHODS: Plasma MMP-2, -9 levels were determined with enzyme-linked immunoassay in pregnant women with preeclampsia (n=20) compared to control group (normotensive pregnant women) matched by maternal age, gestational age, and parity (n=20). RESULTS: Women with preeclampsia presented significantly higher plasma level of MMP-2 before delivery [516.33 +/- 98.75 vs 384.55 +/- 93.84 (ng/mL), p=0.002]. In postpartum 24 hours, women with preeclampsia exhibited higher plasma MMP-2 level compared control group [534.77 +/- 158.67 vs 336.04 +/- 139.11 (ng/mL), p=0.002]. But the plasma level of MMP-9 was significantly lower in preeclampsia group before delivery [26.26 +/- 7.49 vs 45.00 +/- 20.31 (ng/mL), p=0.001]. In postpartum 24 hours, women with preeclampsia also speculated lower plasma MMP-9 level compared control group, but no existence of significance. CONCLUSION: Plasma MMP-2 concentration is significantly increased in preeclampsia before delivey and postpartum 24 hours. Plasma MMP-9 concentration is significantly decreased in preeclampsia before delivery.
Female ; Gestational Age ; Humans ; Immunoassay ; Maternal Age ; Matrix Metalloproteinase 2 ; Matrix Metalloproteinase 9 ; Parity ; Plasma* ; Postpartum Period* ; Pre-Eclampsia* ; Pregnant Women

Osteogenesis imperfecta (OI) is an inherited disease of connective tissue disorder which represents a phenotypically heterogeneous group of conditions that results from a number of genetic defects in the synthesis of type I collagen. A pregnancy associated with osteogenesis imperfecta is considered a high risk pregnancy because the disease is associated with various metabolic and hematologic disorders, as well as well-recongnized skeletal abnormalities. In addition to the mother with OI, the offspring has about a 25% to 50% chance of being affected, therefore genetic counseling before conception and prenatal diagnosis should be offered to all affected mothers. Patients with OI present a series of problems and require a multidisciplinary approach in their management. We present a case of parturient with osteogenesis imperfecta with brief review of literature.
Collagen Type I ; Connective Tissue ; Fertilization ; Genetic Counseling ; Heredity ; Humans ; Mothers ; Osteogenesis Imperfecta* ; Osteogenesis* ; Pregnancy* ; Pregnancy, High-Risk ; Prenatal Diagnosis

OBJECTIVES: It has been reported that repetitive transcranial magnetic stimulation (rTMS), which stimulate the focal region of brain may relieve auditory hallucination in patient with schizophrenia. This study was aimed to evaluate the effect of rTMS on left and right temporoparietal cortex in schizophrenic patients with treatment-resistant auditory hallucination. METHODS: Twenty-six patients with chronic schizophrenia with treatment -resistant auditory hallucination were randomly allocated to rTMS group on left and right temporoparietal head regions. The rTMS was applied to TP3/4 region by EEG 10-20 international system at 1 Hz for 20 minutes per day for 10 treatment days. A Figure of eight TMS coil with a solid core was used for rTMS at 100% of individual motor threshold. Efficacy was evaluated with Auditory Hallucination Rating Scale (HRS), Positive and Negative Symptoms Scale (PANSS), Clinical Global Impression (CGI) Scale on 5 and 10 days of treatment. RESULTS: Ten days administration of 1-Hz rTMS to temporoparietal cortex significant improved frequency (p<0.001) and attentional salience (p=0.038) of auditory hallucination, positive (p<0.001) and negative symptom (p=0.02), and CGI-improvement (p<0.001). There were no significant differences between right and left side stimulations. CONCLUSION: These results suggest that the low frequency rTMS on temporoparietal cortex may be useful in treating schizophrenic patients with treatment-resistant auditory hallucination and it could be a useful novel treatment option.
Brain ; Electroencephalography ; Hallucinations* ; Head ; Humans ; Schizophrenia* ; Transcranial Magnetic Stimulation*

OBJECTIVES: It has been reported that repetitive transcranial magnetic stimulation (rTMS), which stimulate the focal region of brain may relieve auditory hallucination in patient with schizophrenia. This study was aimed to evaluate the effect of rTMS on left and right temporoparietal cortex in schizophrenic patients with treatment-resistant auditory hallucination. METHODS: Twenty-six patients with chronic schizophrenia with treatment -resistant auditory hallucination were randomly allocated to rTMS group on left and right temporoparietal head regions. The rTMS was applied to TP3/4 region by EEG 10-20 international system at 1 Hz for 20 minutes per day for 10 treatment days. A Figure of eight TMS coil with a solid core was used for rTMS at 100% of individual motor threshold. Efficacy was evaluated with Auditory Hallucination Rating Scale (HRS), Positive and Negative Symptoms Scale (PANSS), Clinical Global Impression (CGI) Scale on 5 and 10 days of treatment. RESULTS: Ten days administration of 1-Hz rTMS to temporoparietal cortex significant improved frequency (p<0.001) and attentional salience (p=0.038) of auditory hallucination, positive (p<0.001) and negative symptom (p=0.02), and CGI-improvement (p<0.001). There were no significant differences between right and left side stimulations. CONCLUSION: These results suggest that the low frequency rTMS on temporoparietal cortex may be useful in treating schizophrenic patients with treatment-resistant auditory hallucination and it could be a useful novel treatment option.
Brain ; Electroencephalography ; Hallucinations* ; Head ; Humans ; Schizophrenia* ; Transcranial Magnetic Stimulation*

Apraxia of speech (AOS) is a speech disorder due to an impaired ability to program the positioning of the speech musculature and the sequencing of muscle movements. It differs from dysarthria because speech errors are inconsistent depending on the locus of the sound. We report a 66-year-old man who presented with AOS which evolved into frontotemporal dementia 5 years later. Initial neuropsychological test showed mainly buccofacial apraxia and frontal lobe dysfunction. Brain FDG-PET disclosed hypometabolism in frontotemporal region.
Aged ; Apraxias* ; Brain ; Dysarthria ; Frontal Lobe ; Frontotemporal Dementia* ; Humans ; Neuropsychological Tests