Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel / 대한소화기학회지

Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder caused by mutations in the NPC1 and NPC2 genes. These mutations cause the accumulation of unesterified cholesterol and other lipids in the lysosomes. NPC has a broad spectrum of clinical manifestations, depending on the age of onset. A 15-day-old infant presented at the Seoul National University Children's Hospital with neonatal cholestasis and hepatosplenomegaly, with the onset of jaundice at 5 days of age. Despite supportive treatment, the patient was considered for a liver transplant because of progressive liver failure. Unfortunately, the patient died from gastrointestinal bleeding before undergoing the transplant. The neonatal cholestasis gene panel revealed two novel likely pathogenic variants in the NPC1 gene (c.1145C>G [p.Ser382*] and c.2231_2233del [p.Val744del]). The patient was diagnosed with NPC, and both parents were found to be carriers of each variant. In infants presenting with neonatal cholestasis, a gene panel can help diagnose NPC.

The Intra- and Inter-rater Reliability and the Learning Curve for a Simple Neurological Score for Rats

OBJECTIVE: To measure the intra- and inter-rater reliability of a simple sensorimotor performance test for rats, and to evaluate the learning efficiency of a novice rater for the test. METHOD: Middle cerebral arteries were occluded by intraluminal sutures in 25 male Sprague-Dawley rats (10~12 weeks old). The sensorimotor performance test was performed by a novice and an experienced rater, with each rater performing the test twice each week for 3 consecutive weeks. A ten-minute standardized video about the rating method was shown to the novice rater after the second test each week. RESULTS: The intra- and inter-rater agreement was determined using Cohen's weighted kappa coefficient. The intra-rater reliability was initially poor for the novice (κ [95% confidence interval], 0.31[-0.02, 0.64]), but it improved significantly after 3-week self education using the standardized video (0.81 [0.69, 0.93], showing almost perfect agreement. The reliability of the experienced researcher was good at all times (κ = 0.64, 0.76, 0.71, for week 1, 2, 3, respectively), indicating substantial agreement. The inter-rater reliability showed clear improvement after self-education (κ = 0.44, 0.69, 0.69, for week 1, 2, 3, respectively). Although the total sum score was highly reliable, some of the individual items showed lower intra-and inter-rater agreement. However, each rater showed greater within-rater variability for different subtests. CONCLUSION: The simple sensorimotor performance test showed high degree of intra- and inter-rater agreement when performed by experienced or properly educated raters. The inaccuracy of the novice was rectified by 3-week self-education using a video.

Recognition of Musical Nuance in Patients with Schizophrenia / 신경정신의학

OBJECTIVES: Emotion perception deficit has long been suggested to be one of the core features of schizophrenia. Although there have been several studies examining responses to facial expressions, few studies addressed music emotion recognition. The aim of this study was to examine the difference in emotion recognition in music between normal subjects and patients with schizophrenia. METHODS: Twenty pieces of music were presented to 43 patients with chronic schizophrenia and 82 healthy controls. The set of music consisted of ten pieces of sad music and ten pieces of cheerful music. The subjects were asked to answer whether each piece of music was sad or cheerful. RESULTS: The correct response rate of music emotion recognition was lower in patients with schizophrenia compared with that in healthy controls (76.67+/-19.03% vs. 93.54+/-8.18%, p<0.001). When subgroup analyses was done by type of music ('sad' or 'cheerful'), patients showed a significantly lower correct response rate in recognizing both sad and cheerful emotion in music than healthy controls (sad emotion : 65.12+/-31.15% vs. 91.95+/-15.27%, cheerful emotion : 88.0+/-16.83% vs. 95.12+/-8.64%). The significant correlations between the clinical symptom severity of schizophrenia and music emotion recognition were not found to be. CONCLUSION: The results suggest that patients with schizophrenia might have difficulties in recognizing musical nuances.

Symptom Remission and Functional Outcomes in Patients with Recent-Onset Schizophrenia: A One-Year Prospective Observational Study / 신경정신의학

OBJECTIVES: The long-term outcome of schizophrenia is still considered variable and inconclusive. We performed a one-year prospective observational study to investigate the longitudinal outcomes in patients with recent-onset schizophrenia. The primary purpose was to determine the descriptive outcomes in terms of symptom remission and psychosocial function. The secondary purpose was to identify predictor variables associated with the outcomes. METHODS: Patients experiencing their first episode of psychosis or hospitalization within the past 2 years with a diagnosis of DSM-IV schizophrenia were included. Clinical symptoms were assessed monthly using Brief Psychiatric Rating Scale (BPRS), Scale for the Assessment of Positive Symptoms (SAPS), Scale for the Assessment of Negative Symptoms (SANS) and Clinical Global Impression (CGI) scale. Psychosocial function was measured using PSYCH-UP (Psychosocial symptoms you currently have, follow-up version) and Heinrichs' Quality of Life Scale (QLS) at baseline, 6, and 12 months and Global Assessment of Functioning (GAF) monthly. Remission was defined on the basis of overall, and psychotic core symptoms as having 1) BPRS total score or =60 increased from 6.1% at baseline to 85.8% at 12 months. Of the patients who were in remission at 12 months, 95.5% obtained GAF score > or =60. CONCLUSION: This study showed 64.3% of symptom remission rate in patients with recent-onset schizophrenia. Symptom remission was accompanied by significant improvement of global function. The severity of negative symptom at baseline appeared to be a significant predictor for time to remission. Psychosocial function was improved at the end of this study, but impairments still remained at mild to moderate level. GAF score and negative symptoms significantly correlated with psychosocial function.

Prescription Patterns of Olanzapine among Manic Inpatients with Bipolar Disorder / 대한정신약물학회지

OBJECTIVE: The purpose of this study was to investigate current trends in the prescription patterns of olanzapine in patients with bipolar disorder and to examine the relationship between the prescription patterns and the clinical outcome. METHODS: We investigated the prescription patterns of olanzapine in bipolar patients who were discharged between March 1, 2001 and October 31, 2003 by retrospective review of medical records. Prescription patterns included maximum dose, average dose, duration of olanzapine treatment, and so on. Treatment outcome was measured by using Clinical Global Impression-improvement scale (CGI-I) at discharge. RESULTS: The use of antipsychotics was found to be increasing and olanzapine accounted for about 30% of antipsychotics prescribed in the treatment of bipolar disorder. Average and maximum dose of olanzapine in 2003 were increased compared with those in 2001 or 2002. Higher average and maximum dose of olanzapine treatment resulted in better global outcome. CONCLUSION: These findings confirm the important role of antipsychotics, particularly olanzapine in the current treatment of bipolar disorder and also support the recent recommendation of high dose of olanzapine in the treatments of acute manic symptoms.

A Newly Designed Sling for Hemiplegic Shoulder Subluxation: A Pilot Study

OBJECTIVE: To introduce a newly designed arm sling and to compare the effects on a shoulder subluxation. METHOD: Sixteen hemiplegic patients with shoulder subluxation were evaluated by a simple X-ray with and without the slings and the vertical and horizontal distances on the plain AP views were measured. The newly designed arm sling was compared in terms of the effects of correction with a pouch sling and a Bobath sling. The arm sling designed for this study was developed for the purpose of maintaining patients' hands in a functional position and performing ROM exercise of the shoulder easily. The mean values of the vertical and horizontal distance were compared to determine if there was significant difference of function between the new sling and the conventional slings. Variables such as comfort, choice, and easiness for donning and doffing of the arm slings were evaluated by questions. RESULTS: The new sling provided the patients with good vertical correction of the subluxation (p<0.05) but did not increase the horizontal distance significantly. According to the responses to the questions, the new sling was more comfortable than the conventional slings. CONCLUSION: These results support the effectiveness and the comfort of a new sling to decrease subluxation in hemiplegia. Further study on the long term effects or complication of the new sling is recommended.

Association Study between 5-HT2A Receptor and DRD3 Receptor Gene Polymorphism and Clinical Response to Atypical Antipsychotics in Patients with Schizophrenia / 신경정신의학

OBJECTIVES: This study was performed based on the hypothesis that the interindividual differences in clinical response to atypical antipsychotics might be associated with serotonin 2A receptor(5-HT2A) gene and(or) dopamine D3 receptor(DRD3) gene polymorphisms. METHODS: Seventy-five patients(39 men, 36 women) who met DSM-IV criteria for Schizophrenia at the Asan Medical Center were selected for the analysis of the medical records and subsequent interview. A written informed consent was obtained prior to the study and the privacy protection was kept throughout the course. Clinical Global Impression(CGI) Scale was applied after 4 weeks of treatment to assess the response to atypical antipsychotics. All patients in this study were administered olanzapine(n=39), risperidone(n=52) or clozapine(n=4). According to CGI scale, the patients were classified in 7 groups ; very much improvement ; much improvement ; minimal improvement ; no change ; minimal worsening ; much worsening ; very much worsening. The first and second groups were regarded as responders while the other groups were non-responders. Patients were genotyped for 5-HT2A by PCR(Msp I) for detection of T102 and C102 alleles. And they were also genotyped for DRD3 Ser9Gly polymorphism by PCR(Bal I). We conducted the statistical analyses to detect association between responders and non responders with chi-square tests. RESULTS: The patients who were shown no or minimally improved patients were sorted to non-responders(n=42, men 24, women 18) and the other patients shown much or very much improved were grouped as responders(n=33, men 15, women 18). The differences in demographic variables(age, sex), age of onset, and duration of illness were not statistically significant between the two groups. T102 allele is more frequent in non-responders(56.0%) than responders(45.5%), however, this difference is not statistically significant(p=0.20). Gly9 allele is near equal between non-responders and responders (65.5%, 65.2%). Genotype frequencies of the two groups also is not a statistically significant for 5-HT2A T102C(p=0.28) and DRD3 Ser9Gly(p=0.90). CONCLUSION:These results do not show significant associations among 5-HT2A gene, DRD3 gene and clinical response to atypical antipsychotics. On the assumption that responses to atypical antipsychotics are mediated by these two receptors, we can draw two possibilities. First, 5-HT2A and DRD3 genes may not be the functional variants related with responses to atypical antipsychotics. Second possibility is that the unknown variations which might be in linkage disequilibrium with the 5-HT2A T102C polymorphism and DRD3 Ser9Gly polymorphism may be associated with the response to atypical antipsychotics in schizophrenia. However, it is possible that the small number of subjects and ethnic difference of allele frequency of marker polymorphism could induce false negative results.

Hepatitis C Virus Infection in Pregnancy / 대한산부인과학회잡지

OBJECTIVE: Our purpose was to estimate the prevalence of hepatitis C virus seropositivity and define the risk factors for HCV infection in a group of pregnant women and the effect of HCV infection to mother and baby at the time of delivery. METHODS: From March 1997 to February 1998, 5655 women who delivered over 20 gestational weeks at our hospital were screened for HCV-Antibody(RIA), and the samples of most of HCV-Ab positive cases were analyzed for HCV-RNA by polymerase chain reaction(PCR). We also studied the risk factors for HCV infection, the effect of HCV infection to mothers and neonates at delivery. RESULTS: Of 5655 mothers 25 (0.44%) were HCV-Ab positive, and 20 of HCV-Ab positive mothers were analyzed for HCV-RNA by PCR. Of 20 HCV-Ab positive mothers 12 cases (60%) were HCV-RNA positive. Risk factors significantly more prevalent among HCV-seropositive patients were : a history of habitual intraveneous drug use, a history of smoking, alcohol drinking during pregnancy, having liver cirrhorsis. The proportions who had received a blood transfusion, had a history or ongoing syphilis or were positive for hepatitis B virus surface antigen were not significantly different between seropositive and seronegative women. Liver function test at delivery was abnormal in 4 cases(16%) of HCV-Ab positive group. And the number of abnomal liver function test cases in HCV-Ab negative group were 47(0.83%). This had statistical difference. In neonates at delivery, all 20 neonates of 20 ones having HCV-Ab positive mother were HCV-Ab positive. But only 2 cases of 20 babies were HCV-RNA positive. CONCLUSION: Mothers who have risk factors such as injecting drug use, smoking, alchohol drinking and liver cirrhorsis, should undergo HCV-Ab testing and quantitative HCV-RNA testing by PCR. More advanced studies about vertical transmission of HCV infection are needed.

Clinical Analysis of Third Cesarean Section and 2nd Cesarean Section / 대한주산의학회잡지

OBJECTIVE: To compare the second and third cesarean section by clinical and statistical analysis. METHODS: From June 1993 to February 1997, we experienced 296 cases of the third cesarean section and 541 cases of the second cesarean section. We analyzed their incidence, age distribution, gestational week at operation, weight distribution of baby at birth, hemoglobin change, estimated blood loss during operation, obstetrical complication, combined operation, and degree of pelvic adhesion, presence of wound dehisence of uterus, post operative complication. RESULTS: Of the total deliveries, overall incidence of cesarean section was 51.4%, while the incidence of the second cesarean section was 16.0%, and that of the third cesarean section was 1.1%. In the third cesarean section the age group of 31-35 was most common(49.7%), and the most common gestational week at operation was 39th week(43.9%). In the third cesarean section, the hemoglobin change of 1.0g% less was most common(95.2%), and the most common amount of estimated blood loss was 400-600ml(61.0%). There was statistically significant difference of the blood transfusion rate between the third cesarean section(41 cases, 13.8%, p=0.04) and second cesarean section(27 cases, 5.0%). The most common combined operation in the third cesarean section was tubal ligation(51.7%), and the others were bladder wall repair(2.0%), cesarean hysterectomy(1.7%). In the third cesarean section, the incidence of mild intraabdominal adhesion was 16. 9% and that of severe adhesion was 11.8%. It was statistically significant compared to the second cesarean section. Among the complications of the third cesarean section, there were 9 cases of placenta accreta(3.0%), 4 cases of placenta previa totalis(1.4%), and 1 case of uterine rupture, uterine atony, uterine arterial rupture(0.3% each other), and did not proved statistical significance. CONCLUSION: In this study, we found that the rate of blood transfusion, cesarean hysterectomy, bladder wall repair, and the degree of intraabdominal adhesion were more common in the third cesarean section than second section. But, if pre- & postoperative management is adequate, maternal mobidity and neonatal mobidity is not affected.

Clinical Study of Deep Neck Infection: Clinical Analysis of a Hundred Cases / 대한이비인후과학회지

BACKGROUND: Due to the antibiotic therapy and the appropriate treatment, the incidence of the infections of the neck decreased. But during last 5 years in the Red Cross hospital, there were the hundred cases. And a few significant complications were still experienced. OBJECTIVES: For the early treatment and the prevention of the infection of the neck, it is necessary to study the characteristics, the diagnosis, and the treatment. MATERIALS AND METHODS: The hundred cases of the infections of the neck in the Red Cross hospital from January in 1992 to December in 1996 were analyzed about the age and sex distribution related to spaces involved, the location of cellulitis and abscess, the side of lesion, the symptoms and signs, the etiologic events, the associated conditions, the results of culture, the special diagnostic methods, the treatments, and the complications. RESULTS: In the infections of the neck, the following contents were more frequent: male(sex), the third decade(age), pain and fever(symptoms and signs), acute tonsillitis and odontogenic origin(etiologic events), Diabetes Mellitus(associated condition), hemolytic Streptococcus and Bacteroides(the results of culture), and Computerized Tomography(the special diagnostic methods). There was no significant difference in the side of lesion. The useful treatment in the peritonsillar space infection was the incision and drainage and then tonsillectomy two or three weeks after the recovery of the infection, and in the deep neck space infection, only antibiotic therapy or the incision and drainage with the antibiotic therapy were useful. The complications were four cases with two cases of sepsis, one cases of mediastinitis, and one cases of internal jugular vein thrombosis. CONCLUSION: In spite of the antibiotic therapy and the appropriate treatment, there were some complications experieced. So, we must know the characteristics of the infection of the neck well, and the systemic and active attitude is necessary.

A Case of Acute Intermittent Porphyria in Pregnancy / 대한산부인과학회잡지

No abstract available.

Olfactory detection and identification test for outpatient / 대한이비인후과학회지

No abstract available.

A case of Krukenberg tumor / 대한구급학회지

No abstract available.