Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development

OBJECTIVE: To determine effects of copy number variations (CNV) on developmental aspects of children suspected of having delayed development. METHODS: A retrospective chart review was done for 65 children who underwent array-comparative genomic hybridization after visiting physical medicine & rehabilitation department of outpatient clinic with delayed development as chief complaints. Children were evaluated with Denver Developmental Screening Test II (DDST-II), Sequenced Language Scale for Infants (SELSI), or Preschool Receptive-Expressive Language Scale (PRES). A Mann-Whitney U test was conducted to determine statistical differences of developmental quotient (DQ), receptive language quotient (RLQ), and expressive language quotient (ELQ) between children with CNV (CNV(+) group, n=16) and children without CNV (CNV(–) group, n=37). RESULTS: Of these subjects, the average age was 35.1 months (mean age, 35.1±24.2 months). Sixteen (30.2%) patients had copy number variations. In the CNV(+) group, 14 children underwent DDST-II. In the CNV(–) group, 29 children underwent DDST-II. Among variables, gross motor scale was significantly (p=0.038) lower in the CNV(+) group compared with the CNV(–) group. In the CNV(+) group, 5 children underwent either SELSI or PRES. In the CNV(–) group, 27 children underwent above language assessment examination. Both RLQ and ELQ were similar between the two groups. CONCLUSION: The gross motor domain in DQ was significantly lower in children with CNV compared to that in children without CNV. This result suggests that additional genetic factors contribute to this variability. Active detection of genomic imbalance could play a vital role when prominent gross motor delay is presented in children with delayed development.

The Korean Version of the Cognitive Assessment Scale for Stroke Patients (K-CASP): A Reliability and Validity Study

OBJECTIVE: To develop the Korean version of the Cognitive Assessment Scale for Stroke Patients (K-CASP) and to evaluate the test reliability and validity of the K-CASP in stroke patients. METHODS: The original CASP was translated into Korean, back-translated into English, then reviewed and compared with the original version. Thirty-three stroke patients were assessed independently by two examiners using the K-CASP twice, with a one-day interval, for a total of four test results. To evaluate the reliability of the K-CASP, intra-class correlation coefficients were used. Pearson correlations were calculated and simple regression analyses performed with the Korean version of Mini-Mental State Examination (K-MMSE) and the aphasia quotient (AQ) to assess the validity. RESULTS: The mean score was 24.42±9.47 (total score 36) for the K-CASP and 21.50±7.01 (total score 30) for the K-MMSE. The inter-rater correlation coefficients of the K-CASP were 0.992 on the first day and 0.995 on the second day. The intra-rater correlation coefficients of the K-CASP were 0.997 for examiner 1 and 0.996 for examiner 2. In the Pearson correlation analysis, the K-CASP score significantly correlated with the K-MMSE score (r=0.825, p<0.001). The coefficients of determination (r²) of the AQ were 0.586 for the K-MMSE and 0.513 for the K-CASP in the simple regression analysis. CONCLUSION: The K-CASP is a reliable and valid instrument for cognitive dysfunction screening in post-stroke patients. It is more applicable than other cognitive assessment tools in stroke patients with aphasia.

Evaluation of EuDx™-PN MLC Detection Kit for Detection of Mycoplasma pneumoniae, Chlamydophila pneumoniae, and Legionella pneumophila in Respiratory Specimens / 대한임상미생물학회지

BACKGROUND: Infection by the intracellular bacteria Mycoplasma pneumoniae, Chamydophila pneumoniae, and Legionella pneumophila are common causes of community-acquired pneumonia (CAP). This study describes the evaluation of a new multiplex real-time PCR test, EuDx™-PN MLC Detection Kit (EUDIPIA), which allows the simultaneous detection of M. pneumoniae, C. pneumoniae, and L. pneumophila in respiratory samples. METHODS: A total of 353 samples were tested using three PCR kits: multiplex PCR (Seeplex PneumoBacter ACE Detection Kit) and two multiplex real-time PCR (EuDx™-PN MLC Detection Kit and Anyplex™ II RB5 Detection Kit). The results were considered true positives (expanded standard) for M. pneumoniae, C. pneumoniae, and L. pneumophila if they were positive according to any of the three tests. RESULTS: The sensitivity and specificity of EuDx™-PN MLC Detection Kit were 93.3–100% and 100%, respectively. The agreement rate and Cohen's kappa coefficient (value) between EuDx™-PN MLC Detection Kit and Anyplex™ II RB5 Detection Kit for M. pneumoniae, C. pneumoniae, and L. pneumophila were 70–100% and 0.82–1, respectively. CONCLUSION: These results demonstrate that the EuDx™-PN MLC Detection Kit is a sensitive, specific, and useful screening tool for the detection of atypical pathogens in respiratory samples and can be helpful in selecting appropriate antimicrobial therapy for patients with respiratory infection.

Bilateral Anterior Opercular Syndrome With Partial Kluver-Bucy Syndrome in a Stroke Patient: A Case Report

Bilateral anterior opercular syndrome and partial Kluver-Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver-Bucy syndrome.

Bilateral Anterior Opercular Syndrome With Partial Kluver-Bucy Syndrome in a Stroke Patient: A Case Report

Bilateral anterior opercular syndrome and partial Kluver-Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver-Bucy syndrome.

Effects of Indoor Rowing Exercise on the Body Composition and the Scoliosis of Visually Impaired People: A Preliminary Study

OBJECTIVE: To evaluate the effects of rowing exercise on body composition, laboratory data, fitness and scoliosis in visually impaired people. The majority of visually impaired people do not participate in active sports due to efficiency and safety issues. Rowing is a safe whole-body exercise with aerobic and anaerobic components. METHODS: Twenty subjects were recruited from among those admitted to a facility for visually impaired people (16 men and 4 women). Laboratory data, body composition, physical fitness, Cobb's angle, and fall index were checked before and after 6 weeks (5 days a week) of indoor rowing using Concept2 Model E. RESULTS: After the training, fat mass and total body fat percent decreased significantly. In the fitness test, back strength and trunk flexion score increased significantly. Laboratory data showed significant increases in serum protein and albumin and decreases in low-density lipoprotein (LDL) cholesterol. There were 9 subjects with scoliosis and after the training Cobb's angle decreased by 1.11degrees+/-1.55degrees, though this was not statistically significant. CONCLUSION: Visually impaired people frequently have abnormal body composition, low physical fitness, and scoliosis. A rowing exercise program can be helpful, with a positive effect on body composition and physical fitness; however, with respect to scoliosis, we need an earlier intervention program in visually impaired people.

Traumatic Atlanto-Occipital Dislocation Presenting With Dysphagia as the Chief Complaint: A Case Report

We report a patient with traumatic atlanto-occipital dislocation who presented with dysphagia as the chief complaint. A 59-year-old man complained of swallowing difficulty for 2 months after trauma to the neck. On physical examination, there was atrophy of the right sternocleidomastoid and upper trapezius muscles, and the tongue was deviated to the right. In a videofluoroscopic swallowing study, penetration and aspiration were not seen, food residue remained in the right vallecula and pyriform sinus, and there was decreased motion of the soft palate, pharynx and larynx. Electromyography confirmed a right spinal accessory nerve lesion. Magnetic resonance imaging confirmed atlanto-occipital dislocation. Dysphagia in atlanto-occipital dislocation is induced by medullary compression and lower cranial nerve injury. Therefore, in survivors who are diagnosed with atlanto-occipital dislocation, any neurological symptoms should be carefully evaluated.

Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea

Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl(-)-rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene, which encodes a coupled Cl-/HCO3- exchanger in the ileum and colon, are known to cause CLD. Although there are a few reports of CLD patients in Korea, none of these had been confirmed by genetic analysis. Here, we describe the case of a Korean infant with clinical features of CLD. Using direct sequencing analysis, we identified 2 sequence variants: a missense variant of unknown significance (c.525G>C; p.Arg175 Ser) and a splicing mutation (c.2063-1G>T) in the SLC26A3 gene; these had been inherited from the father and mother, respectively. Whilst CLD is rare, its main symptom, diarrhea, is very common in infants. Hence, the diagnosis of CLD can prove difficult. Mutational analysis of the SLC26A3 gene should be considered as a viable method to confirm a diagnosis of CLD in Korean infants with persistent diarrhea.

Survey of Elementary School Students and Their Mothers Awareness and Intake Patterns of Kimchi in Changwon

This study aimed to examine consumers' interest, preference, and consumption frequency of Kimchi in elementary school students in the fifth grade and their mothers living in Changwon city. In a comparison of eating habits, students exhibited better eating habits than their mothers (P<0.01). Though the mothers' levels, were higher than those of the students in the category of 'eat foods with a bit of salt usually', the students' levels were higher in the rest of the eating habit categories. The categories of 'like Kimchi', 'spicy taste', and 'appropriately spicy taste' got high levels. Among several kinds of Kimchi, both students and mothers preferred 'cabbage Kimchi' the most. Among various Kimchi foods, preferences for 'Kimchi pancake', 'fried rice with Kimchi', and 'tuna Kimchi soup', were highest in that order. The preferences differed between students and mothers in each category; mothers' preferences were significantly higher than those of students. However, in the rest of categories, except 'boiled kimchi and fish' and 'Kimchi and stir-fried spicy pork', students' preferences were higher than mothers' ones. Compared to their preferences, students' consumption frequencies were significantly higher than mothers' ones (P<0.01). There were positive correlations among students' eating habits, awareness of Kimchi, consumption frequency, and preference. For mothers, there were positive correlations not only between eating habits and awareness, but also between awareness and preference.

Evaluation of length, volume and gray-scale histogram of the cervix as predictors of successful induction / 대한산부인과학회지

OBJECTIVE: The aim of this study was to evaluate whether the Bishop score, length, volume and gray-scale histogram of the cervix has a predictive value of assessing the rate of success in trial of induction. METHODS: Forty-one nulliparous patients with its Bishop score six or less were enrolled for this prospective study. All were on prostaglandin E2 (PGE2, Propess(R); Controlled Therapeutics Ltd) pessary. Three-dimensional transvaginal ultrasound scans of the cervix were performed on the ACCUVIX XQ (Medison) to measure length, volume, and gray-scale histogram. Bishop score was determined by digital examination. The successful induction was defined as the ability to achieve the active phase of labor corresponding to a cervical dilatation of > or =4 cm within 12 hours of removing the PGE2 pessary. The receiver operating characteristics (ROC) curves were also used to estimate an optimal cutoff point for the Bishop score, length, volume, and gray-scale histogram of the cervix. Logistic regression analysis was used for statistical analyses. RESULTS: The overall successful rate of labor induction was 73.2% (30/41). Multiple logistic regression analyses demonstrated that the value of anterior lip histogram was significantly associated with the successful labor induction. ROC curve for anterior lip histogram value in predicting success of induction indicated a significant relationship with successful induction. The best cutoff value was 69.4. CONCLUSION: The value of anterior lip histogram associates significantly with the prediction of successful induction in nulliparous women. But, Bishop score and other sonographic measurement of cervical length, volume, and posterior lip histogram have no predictive values for successful induction.

Acquired Amegakaryocytic Thrombocytopenia after Thymectomy in a Case of Pure Red Cell Aplasia Associated with Thymoma / 대한진단검사의학회지

The association of thymoma with pure red cell aplasia has been well documented, but amegakaryocytic thrombocytopenia is not a recognized paraneoplastic syndrome complicating thymoma. We report a case of thymoma-complicated pure red cell aplasia and amegakaryocytic thrombocytopenia in a 73-yr-old woman. Pure red cell aplasia was diagnosed seven months after the detection of thymoma. One year after the diagnosis of pure red cell aplasia and seven months after thymectomy, bone marrow aspiration and biopsy showed an absence of megakaryocytes, marked erythroid hypoplasia with normal myeloid series. A diagnosis of amegakaryocytic thrombocytopenia and pure red cell aplasia was made. Oral steroid maintenance therapy resulted in recovery of platelet count. She has still transfusion-dependant anemia but platelet and neutrophil counts had been maintained in normal range for more than five months, until the last follow-up. We think that autoreactive T cells may induce a clinical autoimmune response even after eradication of thymoma, and aplastic anemia as a late complication following thymectomy was described in previous cases. This patient also has to be under a close observation because of the possibility to evolve into aplastic anemia.

A Comparison Analysis on the Diagnosis of Helicobacter pylori Infection and the Detection of Clarithromycin Resistance according to Biopsy Sites / 대한진단검사의학회지

BACKGROUND: This study was performed to determine the biopsy sites that are suitable for the diagnosis of Helicobacter pylori infection and to assess the sensitivity of culture, histology, and dual-priming oligonucleotide (DPO)-based multiplex PCR. Moreover, we evaluated the usefulness of PCR for the detection of 23S rRNA mutations, which are responsible for the clarithromycin resistance of H. pylori. METHODS: From 90 patients, we obtained biopsy specimens for culture, histology, and Seeplex(R) ClaR-H. pylori PCR (Seegene Inc., Korea). Phenotypic susceptibility to clarithromycin was evaluated using the E-test (AB Biodisk, Sweden). RESULTS: H. pylori was detected in 48 of 90 patients. The positive rates of infection in the antrum and body were higher than those in the biopsies obtained from the duodenal bulb. The positive rates in histology, PCR, and culture were 46.7%, 42.2%, and 34.4%, respectively. Using histology or PCR, we identified H. pylori in 46 of the 48 patients. 23S rRNA mutations were detected in 8 patients. The clarithromycin E-test showed that all the 10 wild-type patients were susceptible. However, the results of the PCR and E-test of 3 of the 8 mutation-positive patients were discrepant. CONCLUSIONS: We observed that a combination of histology and PCR affords a high detection rate of H.pylori infection and that DPO-based PCR can be practically used for the diagnosis of H. pylori infection and the determination of clarithromycin resistance. These techniques were useful for biopsy sampling simultaneously from the antrum and body for the detection of clarithromycin resistance of multiple strain infection or heteroresistance.

A Study of Maternal and Perinatal Risk Factors on Intrauterine Fetal Death / 대한주산의학회잡지

PURPOSE: The purpose of this study was to identify the risk factors for intrauterine fetal death (IUFD). METHODS: We carried out a case control retrospective study, at the Chonnam National University Hospital, Korea. We included all pregnant women diagnosed as singleton IUFD in pregnancies of 28 weeks of gestation or more, admitted to the hospital from Jan 2003 to Dec 2007. There were 53 cases of singleton IUFD and 3,298 cases of singleton live birth during that period. The incidence, age distribution, and prevalent gestational weeks were analysed. The risk factors were analyzed by using odds ratio, student's t test, and Chisquare test. Logistic regression analysis was applied to determine independent risk factors. RESULTS: The overall incidence of IUFD was 1.6%. The age distribution of mother with IUFD was highest in the age group of 20 year old or less (5.3%). IUFD was the most prevalent at 28-32 weeks of gestation (41.5%). Significant risk factors were maternal body weight just before delivery, weight gain during pregnancy, and abruptio placentae. The independent risk factors were weight gain during pregnancy (beta=0.002, P=0.000) and abruptio placentae (beta=-0.067, P=0.000). CONCLUSION: Lower maternal body weight just before delivery, lower weight gain during pregnancy, and abruptio placentae are factors significantly associated with IUFD. Further investigations are needed to understand the complex etiology of stillbirth.

A Case Report of Tsukamurella pulmonis Infection Misidentified as Atypical Mycobacteria / 대한임상미생물학회지

We report a case of catheter-related bacteremia due to Tsukamurella pulmonis. T. pulmonis is a rare cause of opportunistic infection in immunosuppressed patients and in cases of indwelling foreign materials. This infection was nearly impossible to identify using conventional phenotyping methods because of its similarities to the related genera Nocardia, Rhodococcus, Gordonia, Streptomyces, Corynebacterium, and Mycobacterium. This organism was initially misidentified as Mycobacterium aubagnense through PCR-RFLP analysis. We correctly identified this organism using 16S rRNA sequencing combined with phenotyping tests.

A Case of Co-infection of Salmonella typhi and Viral Hepatitis A after Traveling Abroad / 가정의학회지

Infectious diseases imported from other countries have increased. Feco-oral route is the most common mode of transmission for both typhoid fever and hepatitis A, and thus infection by these agents have an association with poor sanitation. A 30-year-old male was visited to the hospital because of high fever after traveling in Thailand. The level of hepatic transaminases were mildly elevated and viral serological marker for hepatitis was negative. The blood culture was reported positive for Salmonella typhi. After a few days, the level of hepatic transaminases rapidly increased and viral serological marker for hepatitis became positive with anti-hepatitis A viral IgM at follow-up. Therefore we report a case of co-infection of S. typhi and viral hepatitis A after traveling abroad.

Partial trisomy of chromosome 18q11.2-q12: A case report / 소아과

Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient.

A Case of Disseminated Melioidosis in a Migrant Worker from Thailand / 대한진단검사의학회지

With globalization, foreign patients are frequently encountered at the clinical practice in Korea. As the number of migrant workers from Southeast Asia has been notably rising since the late 1990's, unfamiliar tropical infectious diseases that they bring out, may give great challenges to the routine clinical practice in Korea. Melioidosis is a community-acquired infection caused by a gram-negative bacillus, Burkholderia pseudomallei. It has been endemic in Southeast Asia and Northern Australia, where B. pseudomallei is a soil saprophyte and invades the host through inoculation or inhalation. It frequently presents as an acute septicemia with a high mortality rate of 40%, mainly in patients with chronic underlying diseases, such as diabetes mellitus. Recently, we encountered a case of fatal disseminated melioidosis in a migrant worker from Thailand. We suggest an importance of melioidosis as a cause of community-acquired sepsis in migrant workers from Southeast Asia.

Tips for Effective Team-Based Learning Administration in Medical Education / 한국의학교육

No abstract available.