Clinical characteristics of 336 infants referred for chromosomal study during neonatal period from Jan. 1985 to Dec. 1994 to the cytogenetic laboratory of St. Mary's Hospital, Catholic University Medical College were reviewed. Karyotypes were analysed from peripheral blood lymphocyte cultures and G-banding was carried out. A thorough survey of the clinical reasons for chromosomal analysis, prevalence of chromosomal abnormalities in each disease category, and the patterns of chromosomal aberrations were done. The results were as follows, 1) Down syndrome was the most common indication for chromosome analysis in the newborn period, consisting of 37.8 % of all cases referred. Other indications included skeletal anomaly, multi-organ anomalies, cleft lip/palate, ambiguous genitalia, odd looking face, gastrointestinal anomaly, central nervous system anomaly, and Turner syndrome. 2) Overall in 42.9 percent of cases referred, chromosomal abnormalities was found. 3) 1'he percentage of final diagnosis in suspected Down syndrome was 85.0 #96. Overall, of the non-Down syndrome cases, 16.7 96 was given a definitive diagnosis of chromosomal abnomality. In each disease category, 57.1 % of suspected Turner syndrome and 37.2 % of multi-organ anomalies had been proved having chromosomal abnormalities. The percentages of chromosomal aberrations in isolated odd looking face, ambiguous genitalia, and skeletal anomaly were relatively low, around 5 %. None of the newborns referred because of cleft lip/palate, congenital anomalies of gastrointestinal tract or central nervous system had abnormal karyotype. 4) 95.1 % of all cases diagnosed to have chromosomal abnormality had autosomal aberrations, the remainder 4.9 % had sex chromosomal aberrations. 5) Trisomy 21 was the most common numerical aberrations of autosomes, consisting of 87.5 % and trisomy 18, trisomy 13, and mosaicism was 7.1 %, 3.6 96 and 1.8 % of total. 6) 90.7 % of Down syndrome were due to trisomy 21, the rest being translocation (7.4 %) and mosaicism (1.9 %).
Abnormal Karyotype ; Central Nervous System ; Chromosome Aberrations ; Cytogenetics ; Diagnosis ; Disorders of Sex Development ; Down Syndrome ; Gastrointestinal Tract ; Humans ; Infant ; Infant, Newborn* ; Karyotype* ; Lymphocytes ; Mosaicism ; Prevalence ; Trisomy ; Turner Syndrome

No abstract available.

OBJECTIVES: It has been constantly reported that mismatch negativity (MMN) is impaired in patients with schizophrenia. However, the mechanism which relates impaired MMN and schizophrenia is not clear yet. The aim of this study is to investigate the association between MMN and clinical variables including functional status in patients with schizophrenia. METHODS: The present study assessed MMN using passive auditory oddball task in 26 patients with schizophrenia and 48 healthy controls. Repeated measures Analysis of Variance with age as a covariate was carried out for comparing peak amplitude and latency of MMN at 8 central line electrodes (FPz, Fz, FCz, Cz, CPz, Pz, POz, Oz) across groups. Pearson's correlation was performed to reveal the relationship between MMN and clinical variables including neurocognitive test results and the Global Assessment of Functioning score. RESULTS: MMN amplitude was significantly reduced in patients with schizophrenia compared with healthy controls. Pearson's correlation showed that subsets of short form of Korean Wechsler Adult Intelligence Scale scores and GAF scores were associated with MMN amplitude in patients with schizophrenia. CONCLUSION: These findings suggest that MMN amplitude is associated with current functional status including cognitive function in patients with schizophrenia.
Adult ; Analysis of Variance ; Electrodes ; Humans ; Intelligence ; Schizophrenia*

Oro-facial dyskinesia (OFD) is involuntary, abnormal, uncontrolled and stereotyped movements, consisting of forehead furrowing, eye opening and closing, smacking and pursing of the lips, lateral deviation and protrusion of the tongue, and occasionally lateral deviation and protrusion of the jaw.1 OFD is known to have various complications including speech difficulty, chewing and eating disorders, and social embarrassment; facial muscle stiffness, mucosal and gingival traumatic lesions. In addition, it may leads to cranio-mandibular joint (TMJ) complications in the presence of intense and prolonged abnormal movements, with pain and degeneration.1,2 There is no previous report of TMJ dislocation due to OFD. In this report, we describe a patient who developed bilateral anterior TMJ dislocation due to OFD which occurred following intra-cranial hemorrhage (ICH).
Movement Disorders ; Dyskinesias

OBJECTIVE: Telomerase is a ribonucleoprotein that synthesizes TTAGGG repeats onto chromosome ends. The expression of telomerase is thought to be required for cellular immortality and carcinogenesis. This study was conducted to examine the telomerase activation occurs in cervical carcinogenesis. METHODS: The standard telomeric repeat amplification protocol(TRAP) was used to examine telomerase activity in tissues of 10 normal cervix, 10 carcinoma in situ, and 21 invasive cervical carcinoma. RESULTS: Telomerase activity was detected in tissues of 16/21(76.2%) invasive carcinoma, in 5/10(50.0%) carcinoma in situ, and in 3/10(30.0%) normal cervix. But the degree of telomerase activity in normal cervix was weak. There was significant difference in 3 groups(p<0.05). The results of neoadjuvant chemotherapy in 10 invasive cervical carcinoma were as follows. In 8 cases of which tumor size decreased more than 50%, 5 were positive for telomerase. In 2 cases that didn't respond to chemotherapy by tumor size, 1 was positive for telomerase. There was no significant difference between 2 groups. All of the 5 cases that had pelvic lymph node metastasis revealed positive telomerase activity, and the 11 cases of 16 cases that didn't have pelvic lymph node metastasis were positive for telomerase, but there was no significant difference in 2 groups. The positivity of telomerase activity in clinical stage of invasive cervical carcinoma was 73.3% in stage I(11/15), 75.0% in stage II(3/4), 100% in stage III(1/1), and 100% in stage IV(1/1), but there was no significant difference in each stages. CONCLUSION: Telomerase seems to be uniquely associated with malignant transformation of cervix and can be used as a tumor marker. Additional studies are needed to better clarify the biological significance of telomerase expression in cervical tumorigenesis.
Carcinogenesis ; Carcinoma in Situ ; Cervix Uteri ; Drug Therapy ; Female ; Lymph Nodes ; Neoplasm Metastasis ; Ribonucleoproteins ; Telomerase* ; Uterine Cervical Neoplasms*

Rett syndrome is progressive neurodegenerative disorder in female patients, characterized by autistic behavior, mental retardation, loss of purposeful hand skills, stereotypic hand movement, breathing dysfunction, severely impaired language, ataxia, and seizure. The diagnosis of Rett syndrome is based on its characteristic clinical manifestation and course. The electroencephalographic (EEG) findings of Rett syndrome are nonspecific, but a progressive deterioration in the EEG, characterized by a slowing of background activity and spike sharp wave discharges, may be observed. We experienced one case of Rett syndrome in a 5 year old girl having mental retardation, loss of purposeful hand skills, stereotypic hand movements (clapping, washing, hand-to-mouth), breathing dysfunction (hyperventilation/apnea). Her EEG findings on Video-EEG monitoring are excessive slowing waves during awake state and frequent spike discharges from left or centrotemporal area during sleeping. We report a case of Rett syndrome with brief review of related literatures.
Ataxia ; Child, Preschool ; Diagnosis ; Electroencephalography ; Female ; Hand ; Humans ; Intellectual Disability ; Neurodegenerative Diseases ; Respiration ; Rett Syndrome* ; Seizures

PURPOSE: This study attempted to identify influential variables on types of smoking in adult smokers, which have been derived from Q-study. METHODS: A survey was conducted with 328 adult smokers at community settings in Seoul, South Korea from April 2006 to July 2006. To identify the influential variables related to smoking, variables from the Trans-theoretical model(i.e., self-efficacy for smoking abstinence, smoking temptation, process of change, decisional balance(pros and cons)) and nicotine dependency were analysed by ANOVA. Post-comparison tests were also done. RESULTS: The scores of nicotine dependency and smoking temptation were higher in habitual craving types than any other types, while the scores of self-liberation and self-efficacy for smoking abstinence were higher in self control types than any other types. CONCLUSION: Specific smoking intervention methods for each of the smoking types needs to be developed, based on how different groups of individuals gets into a decisions to quit smoking within their contexts.
Adult ; Dependency (Psychology) ; Humans ; Nicotine ; Republic of Korea ; Smoke ; Smoking

We describe a case of fine needle aspiration cytology of metastatic nasopharyngeal carcinoma in the lymph node of the neck presenting a predominantly spindle cell pattern. A 36 year-old male patient complained of dysesthesia on the right face and a palpable neck mass. Fine needle aspiration was done on the neck mass. Tumor cells were present in syncytial groups or singly with mainly spindle shaped nuclei, vesicular chromatin, thin and regular nuclear membrane, occasional prominent nucleoli and a few foci of cellular cohesiveness. The cytoplasm was scant and pale with ill-defined borders. Mature lymphocytes were present in the background of aspirates and within the tumor cell clusters. Histologically, the tumor of nasopharynx showed several areas of spindle cell pattern. Because the tumor cells showed a predominantly spindle shape with vesicular nuclear chromatin, the differential diagnosis of spindle cell sarcoma or granuloma of epithelioid cells were considered, but the characteristic morphology of the nuclei with vesicular chromatin and prominent nucleoli, and cellular cohesiveness were important in making the diagnosis of nasopharyngeal carcinoma. The possibility of metastatic carcinoma should always be considered in fine needle aspiration cytology of the lymph node in the neck because the incidence of metastatic carcinoma, particularly of the nasopharyngeal carcinoma in the lymph nodes of the neck is relatively high.
Child ; Male ; Female ; Humans ; Diagnosis, Differential ; Incidence ; Neoplasm Metastasis

Superior mediastinal widening, as seen on chest radiographs of traumatized patients, has been considered the hallmark of mediastinal injury. The usual causes of superior mediastinal widening are rupture of the aorta, esophagus or trachea, and hematoma as a result of spinal fracture. Posterior dislocation of the sternoclavicular joint is rarely a cause. We report a case of superior mediastinal widening resulting from traumatic posterior dislocation of the stern-oclavicular joint, and describe the CT findings, including those of 3-D imaging.
Aorta ; Dislocations* ; Esophagus ; Hematoma ; Humans ; Imaging, Three-Dimensional ; Joints ; Radiography, Thoracic ; Rupture ; Spinal Fractures ; Sternoclavicular Joint* ; Trachea

PURPOSE: This study was done to identify types of smoking decision making-temptation in adolescents and characteristics related to type among student smokers. METHOD: Data collection was done from March to July. 2006. A survey was administered to 275 students in 13 high schools and 15 middle schools in Seoul, South Korea. To identify types and characteristics smoking decision making-temptation in adolescents, cluster analysis using the K-mean method was employed. Characteristics of the influential variables according to the identified types of adolescent smokers were evaluated using ANOVA. RESULTS: Four types of smoking pattern in adolescents were identified: habitual craving (17.7%), nicotine dependence (35.8%), feeblemindedness (28.4%), and self control p=.001), while the score for self efficacy for smoking abstinence was higher in the self control type (F=23.06, p=.000). Conclusions: Findings from this study suggest that effective interventions for smoking cessation in adolescents require not only active implementation of nicotine replacement therapy but also development of individualized approaches for each person targeting change in the social environment that may lead to positive smoking decisional balance.
Adolescent ; Data Collection ; Humans ; Nicotine ; Republic of Korea ; Self Efficacy ; Smoke ; Smoking ; Smoking Cessation ; Social Environment ; Tobacco Use Disorder