No abstract available.
Prune Belly Syndrome*

No abstract available.
Ectromelia*

No abstract available.
Basal Bodies*

No abstract available.
Basal Bodies*

Growth factor stimulation induces Y783 phosphorylation of phosphoinositide-specific PLC-gamma1, and the subsequent activation of this enzyme in a cellular signaling cascade. Previously, we showed that a double point mutation, Y509A/F510A, of PLC-gamma1, abolished interactions with translational elongation factor 1-alpha. Here, we report that the Y509A/F510A mutant PLC-gamma1 displayed extremely high levels of Y783 phosphorylation and enhanced catalytic activity, compared to wild-type PLC-gamma1, upon treatment of COS7 cells with EGF. In quiescent COS7 cells, the Y509A/F510A mutant PLC-gamma1 exhibited a constitutive hydrolytic activity, whereas the wild-type counterpart displayed a basal level of activity. Upon treatment of COS7 cells with EGF, the Y783F mutation in Y509A/F510A PLC-gamma1 (Y509A/F510A/Y783F triple mutant) cells also led to an enhanced catalytic activity, whereas Y783F mutation alone displayed a basal level of activity. Our results collectively suggest that the Y509A/F510A mutant is more susceptible to receptor tyrosine kinase-induced Y783 phosphorylation than is wild-type PLC-gamma1, but no longer requires Y783 phosphorylation step for the Y509A/F510A mutant PLC-gamma1 activation in vivo.
Amino Acid Substitution/drug effects/*genetics ; Animals ; COS Cells ; Cercopithecus aethiops ; Enzyme Activation/drug effects ; Epidermal Growth Factor/*pharmacology ; Hydrolysis/drug effects ; Mutant Proteins/metabolism ; Phosphatidylinositols/*metabolism ; Phospholipase C gamma/*genetics/metabolism ; Phosphorylation/drug effects ; Phosphotyrosine/*metabolism ; Point Mutation/*genetics ; Rats

PURPOSE: To evaluate the developmental patterns of the sutures and synchondroses in the central skull base. MATERIALS AND METHODS: We evaluated the CT scans of 109 children(age range, 29 days to 15 years) with no skull base abnormality who had undergone axial CT of the skull base with 1-mm collimation. Using a five-tier scheme, we analyzed the developmental patterns of the 18 sutures and synchondroses related to the sphenoid and occipital bones. RESULTS: Fusion of the sutures and synchondroses related to the sphenoid bone progressed rapidly during the first two years. Thereafter, changes in the sphenoid bone were dominated by pneumatization of the sphenoid sinus. Fusion of the synchondroses within the sphenoid body, including intersphenoidal, intrapresphenoidal, and intrapostsphenoidal synchondrosis occurred early and in most cases was graded <=4. Fusion of the sphenosquamosal, sphenoethmoidal, and frontosphenoidal sutures was delayed, and residual sclerosis was a common finding. Except for Kerckring-supraoccipital synchondrosis, fusion of the six sutures and synchon-droses related to the occipital bone occurred more gradually than that of those related to the sphenoid bone. Among these, fusion of the occipitomastoidal suture and petro-occipital synchondrosis was the last to occur. CONCLUSION: A knowledge of the developmental patterns of sutures and synchondroses can help differentiate normal conditions from those such as fracture, osseous dysplasia, or congenital malformation, which are abnormal. Our results provide certain basic informations about skull base maturity in children.
Child ; Humans ; Occipital Bone ; Sclerosis ; Skull Base* ; Skull* ; Sphenoid Bone ; Sphenoid Sinus ; Sutures* ; Tomography, X-Ray Computed

PURPOSE: To evaluate the efficacy of bronchial and intercostal arterial embolization using a glue-lipiodol mixture in patients with hemoptysis. MATERIALS AND METHODS: Between October 1997 and June 1999, 24 patients underwent 30 sessions of bronchial and intercostal arterial embolization using a glue-lipiodol mixture. The cause of hemoptysis was tuberculosis (n=11), bronchiectasis (n=9) or aspergilloma (n=4). Particular attention was paid to the source of bleeding, type and rate of complication and rate of recurrence, and the cause of recurrence and the duration of the asymptomatic period after bronchial and intercostal arterial embolization in patients with recurrent hemoptysis were also analysed. In addition, the asymptomatic period after bronchial and intercostal arterial emboilzation was classified as 24 hours or less, 7 days or less, or 6months or less. RESULTS: In all 24 cases, hemoptysis ceased immediately after bronchial and intercostal arterial embolization. In 18 cases, the focus of bleeding was a bronchial artery arising from the aorta, and in three of these cases there was also intercostal artery bleeding. In the remaining cases, the focus of bleeding was the right bronchial artery arising from the bronchointercostal trunk (n=5), or the intercostal artery only (n=1). During six of 24 sessions (25%) hemoptysis recurred within six months, but there was no recurrence within 24 hours or 7 days. The causes of recurrence were bleeding from systemic collaterals (n=5) and from another nonembolized bronchial artery (n=1). Retrosternal burning sensation (n=13; 43%) and shoulder pain (n=2; 7%) were detected but no complications critical. CONCLUSION: Because it involves non-recanalization of embolized vessels, bronchial and intereostol arterial embolization with a glue-lipiodol mixture can effectively control hemoptysis.
Aorta ; Arteries ; Bronchial Arteries ; Bronchiectasis ; Burns ; Hemoptysis* ; Hemorrhage ; Humans ; Recurrence ; Sensation ; Shoulder Pain ; Tuberculosis

We reviewed dinical, histological and ultrastructural findings of 124 cases of sural nerve biopsy specimens to delineate the trends of peripheral nerve diseases in our institute. Eighty-one were men and 43 were women. We categorized them into five groups: specific diagnosis (66 cases, 53.2%), axonal degeneration type (47 cases, 37.9%), demyelinating type (4 cases, 3.2%), mixed axonal degeneration-demyelinating type (6 cases, 4.8%) and normal (1 case, 0.9%). Cases with specific diagnosis included 21 inflammatory demyelinating polyneuropathy (15 chronic inflammatory demyelinating polyradiculoneuropathy, 6 Guillain-Barre disease), 13 hereditary motor and sensory neuropathy (7 Charcot-Marie-Tooth type I, 6 Charcot-Marie-Tooth type II), 10 vasculitis, 6 toxic neuropathy, 4 leprosy, 3 diabetic neuropathy, 2 alcoholic neuropathy, 1 Fabry's disease and other specific diseases (5 cases). In our cases, the proportion of specific diagnoses was higher, while the proportion of demyelinating peripheral neuropathies and normal were lower than those of Western series. The results of this study indicate that 1) a dose clinicopathologic correlation is important to make a precise diagnosis of peripheral nerve biopsy, 2) Biopsy under strict indication may reduce unnecessary histologic examination, 3) There is no difference in disease pattern of peripheral neuropathy between Western people and Koreans.
Adult ; Biopsy ; Charcot-Marie-Tooth Disease/pathology ; Demyelinating Diseases/pathology ; Fabry Disease/pathology ; Female ; Hereditary Motor and Sensory Neuropathies/pathology ; Human ; Korea ; Leprosy/pathology ; Male ; Microscopy, Electron ; Nerve Fibers, Myelinated/pathology ; Peripheral Nerves/ultrastructure ; Peripheral Nerves/pathology ; Peripheral Nervous System Diseases/pathology* ; Peripheral Nervous System Diseases/microbiology ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/pathology ; Sural Nerve/ultrastructure ; Sural Nerve/pathology*

PURPOSE: A hospital-based case-control study was conducted to evaluate the role of glutathione-S-transferase (GST) Ml and Tl genetic polymorphism for developing breast cancer in Korea. MATERIALS AND METHODS: Histologically confirmed incident cases of breast cancer (n=176) were selected from inpatients at the Department of General Surgery, Seoul National University Hospital (SNUH), Borame hospital, and Asan Medical Center from 1994 to 1998. Women with no self-reporting past history of any malignancies who were selected from the inpatients at the same department at three hospitals during the same period served as controls (n 118). Information on the life-styles including reproductive factors were obtained by interview using questionnaire. Age and education adjusted odds ratio and 95% confidence interval were estimated by unconditional linear logistic regression. RESULTS: These subjects had similar risk factors for developing breast cancer to general Korean population based on other epidetniologic studies previously performed in Korea. GSTI1 null type showed a borderline significance relation in the breast cancer risk (adjusted OR=1.6, 95% CI=0.96-2.62), however, GSTM1 null type was not significant (adjusted OR=1.1, 95% CI=0.67-1.80). Particularly noteworthy was an borderline increasing tendency (p<0.1) of the breast cancer risk with the risk null genotypes assessed by multivariate logistic regression model after adjusting age and education: the putative low-risk genotype with both GSTM1 & GSTT1 wild type, OR=1.0; one putative high risk genotype with GSTM1 null or GSTMl null type, OR=1.9 (95% CI=0.92-3.74); all two putative high risk genotype with both GSTM1 & GSTT1 null type, OR=2.0 (95% CI=0.89-4.68). CONCLUSIONS: These findings suggest that both GSTMl and GSTT1 null type might be the risk factor of developing breast cancer in Korean women. Further investigation with larger sample size should be needed to provide more concrete information on the role of GST genetic polymorphism in breast cancer.
Breast Neoplasms* ; Breast* ; Case-Control Studies* ; Chungcheongnam-do ; Education ; Female ; Genotype ; Glutathione Transferase* ; Glutathione* ; Humans ; Inpatients ; Korea ; Logistic Models ; Odds Ratio ; Polymorphism, Genetic* ; Surveys and Questionnaires ; Risk Factors ; Sample Size ; Seoul

A hospital-based case-control study was conducted to assess the relationship between cigarette smoking, alcohol consumption, and the risk of bgreast cancer in Korea. Histologically confirmed incident cases of breast cancer(n=146) were selected from the inpatients at the Department of Surgery, Seoul National University Hospital and Borame Hospital during 1994 to 1997. Women ithout self-reported past history of any malignandies were regarded as controls and selected at the same hospitals during the same period(n-153). Information on life-styles including cigarette smoking, alcohol drinking, and reproductive history were obtained by direct interview using standardixed questionnaire. Each case was matched with one control by 5-year age category(n=146). Adjusted odds ratios and 90% confidence intervals were estimated by unconditional linear logistic regression model. For smokers, age at first smoking was significantly associated with the breat cancer risk(adjusted OR=14.1, 90% CI=1.24-364.2). Particularly noteworthy was an increasing tendency of the breast cancer risk with the duration of alcohol consumtion in years aong alcohol drinkers(ptrend<0.1). These findings suggest that cigarette smoking at an earlier age and alcohol intake might contribute to the risk factor of breast cancer in Korean women. Further investigation on the association between genetic polymorphism of xenobiotic metabolism enxymes of environmental carcinogens and breast cancer should be needed.
Alcohol Drinking* ; Breast Neoplasms* ; Breast* ; Carcinogens, Environmental ; Case-Control Studies ; Female ; Humans ; Inpatients ; Korea* ; Logistic Models ; Metabolism ; Odds Ratio ; Polymorphism, Genetic ; Reproductive History ; Risk Factors ; Seoul ; Smoke ; Smoking* ; Tobacco Products* ; Surveys and Questionnaires