• Neonatal Medicine
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• v.15 no.1
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• pp.89-93
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• 2008

Duplication of chromosome 12p has been rarely reported and are thought to be associated with congenital malformations and impaired development. We report a baby boy born with multiple dysmorphic features and congenital malformations. His karyotype was 46,XY, add(12)(p13.3). He has suffered from intrauterine growth restriction at birth. He showed abnormal cranio-facial findings such as microcephaly, hypognathia, clepft palate and low set ear. He presented with absence of uvula, micropenis and rocker bottom features of both feet, congenital heart disease, poor corticomedullary differentiation of kidney, and sensorineuronal hearing loss. We have been follow up him for seizure disorder and delayed development at out patient department.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1205-1210
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• 2008

Purpose : The development of the corpus callosum occupies the entire period of cerebral formation. The myelination pattern on magnetic resonance imaging (MRI) is very useful to evaluate neurologic development and to predict neurologic outcome in high risk infants. The thickness of the corpus callosum is believed to depend on the myelination process. It is possible to calculate the length and thickness of the corpus callosum on MRI. Thus, we can quantitatively evaluate the development of the corpus callosum. We investigated the clinical significance of measuring various portions of the corpus callosum in neonate with neurologic disorders such as hypoxic brain damage and seizure disorder. Methods : Forty-two neonates were evaluated by brain MRI. We measured the size of the genu, body, transitional zone, splenium, and length of the corpus callosum. Each measurement was divided by the total length of the corpus callosum to obtain its corrected size. The ratio of corpus callosal length and the anteroposterior diameter of the brain was also measured. Results : There was no statistical significance in the sample size of each part of the corpus callosum. However, the corrected size or the ratio of body of the corpus callosum correlated with periventricular leukomalacia and hypoxic ischemic encephalopathy. Conclusion : The abnormal size of the corpus callosum showed a good correlation with periventricular leukomalacia and hypoxic ischemic encephalopathy in neonates. We can predict clinical neurological problems by estimation of the corpus callosum in the neonatal period.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Journal of Sasang Constitutional Medicine
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• v.29 no.2
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• pp.136-153
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• 2017

Objectives This experimental study was designed to investigate the effect of Phaseolus angularis shell on metabolic syndrome. Methods Each 5 C57BL/6J mice were randomly assigned to normal diet group, high-fat diet(HFD) control group, high-fat diet plus 15.6 mg/kg/day of Orlistat(HFD-Orlistat) group, high-fat diet plus 100mg/kg/day of Phaseolus angularis shell extract(HFD-PAS_E) group. Weight, the blood chemical and hematologic parameter was med. The mRNA expression was assayed through Reverse transcriptase polymerase chain reaction(RT-PCR). Results In HFD-PAS_E group, the body weight gain, weight of liver, and the level of LDL-Cholesterol were significantly decreased and the level of HDL-Cholesterol were significantly increased. The size of adipocyte in HFD-PAS_E group was smaller than HFD group's. In HFD-PAS_E group, the expression of leptin, PPAR-${\gamma}$, AP2/FABP4 mRNA in liver adipocyte tissue was decreased, the expression of Adiponectin, UCP-2 mRNA in liver adipocyte tissue was increased and the expression of Leptin, C/EBP-a, AP2/FABP4 mRNA in epididymal adipocyte tissue was decreased. Conclusion These results suggest that Phaseolus angularis shell has inhibitory effects on metabolic syndrome by reducing the body weight and the levels of lipid contents in high-fat-diet induced obese mice.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.133-141
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• 2007

Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.

• Clinical and Experimental Pediatrics
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• v.52 no.3
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• pp.289-294
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• 2009

Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.

• Journal of Pharmacopuncture
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• v.8 no.2
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• pp.67-82
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• 2005

Effects of Phaseoli Semen rubra Herbal-acupuncture at zusanli(ST-36), Quchi(LI-11) and Sanyinjiao(Sp-6) on lipid composition, liver function, oxidative capacity and molecular biological aspects were investigate in high fat diet induced obese rats. Forty male Sprague-Dawley rats weighing about 400g were divided into 4 groups according to body weight and raised four weeks with control, zusanli(ST-36), Quchi(LI-11) and Sanyinjiao(Sp-6) Herbal-acupuncture groups. 1. Plasma total cholesterol and LDL-cholesterol showed a low values in the (ST-36) and (LI-11) Herbal-acupuncture groups and HDL-cholesterol showed a high values in the (ST-36) Herbal-acupuncture groups. 2. Plasma triglyceride and glucose showed a low values in the (ST-36) and (LI-11) Herbal-acupuncture groups. 3. The contents of plasma free fatty acids showed a tendence to decrease in the Herbal-acupuncture groups, however in the Herbal-acupuncture groups, the values showed no significantly different. 4. The activities of AST and ALT showed no significantly different in all treatment groups. 5. The contents of plasma ${\beta}-lipoprotein$ and free fatty acids showed a tendency to decrease in the Herbal-acupuncture groups compared to those of control group. In the Herbal-acupuncture groups, the values of (ST-36) and (LI-11) Herbal-acupuncture groups showed a low in the acupuncture groups. 6. Liver total cholesterol and triglyceride showed a low values in the (ST-36) and (LI-11) Herbal-acupuncture groups. 7. Contents of plasma TBARS showed a low values in the (ST-36) and (LI-11) Herbal-acupuncture groups, however contents of liver TBARS showed no significantly different among treatment groups. 8. Values of liver glutathione peroxidase and catalase activity showed a tendency to increase in the (ST-36) and (LI-11) Herbal­acupuncture groups. Values of liver super oxide dismutase activity showed a high in the (ST-36) Herbal-acupuncture groups compared to those of other groups. 9. Expression of apo-B mRNA in liver cell showed a low in (ST-36) Herbal-acupuncture groups, however expression of apo-E mRNA showed a high in Herbal-acupuncture groups and $TNF-{\alpha}$ mRNA in adipose cell showed no different among all the treatment groups. Expression of Leptin mRNA showed a tendance to decrease in (ST-36) Herbal-acupuncture group. 10. Histological character of liver, those of (ST-36) Herbal-acupuncture group showed a good, however other treatment groups showed slight vasodilation and slight fat accumulation. These results indicated that Phaseoli Semen rubra Herbal-acupuncture at (ST-36) and (LI-22) suppressed adipose tissue mass and lipid peroxidation and increased antioxidant system.

• Clinics in Shoulder and Elbow
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• v.10 no.1
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• pp.50-58
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• 2007

Purpose: To report our experience with nine cases of pathologic synovial plica on radiohumeral joint which symptom of painful snapping elbow was improved by arthroscopic resection. Materials and Methods: Between 1999 and 2004, 43 cases of elbow arthroscopy were performed by one surgeon. Eight patients with nine cases showed pathologic synovial plica in conjunction with snapping or posterolateral elbow pain. The mean age of eight patients (man: 7, woman: 1) was 29 years (range $16{\sim}56$ years). All patients had a trial of conservative treatment at least six months (range $6{\sim}16$ months). The diagnosis was confirmed before surgery in six cases and at the time of surgery in three cases. Pain, snapping, and subjective results were evaluated at least 12 months in the average(range $12{\sim}24$). Results: All patients showed a hypertropic lateral synovial plica with local synovitis. Seven of them had an associated lesion of chondromalacia on radial head. One of them was associated with radiocapitellar arthritis and had a wrapping over the radial head. Six patients experienced improved posterolateral pain at the end of study (VAS<1). However, the other two patients had occasional pain with activity. One of them persisted with mechanical symptoms, which was treated with additional arthroscopic procedure. Conclusion: Synovial plica in elbow should be considered as an important entity of common elbow disease, especially when pain in the lateral aspect of the elbow with a snapping sensation during motion is featured in patients. The arthroscopic resection seems to be safe and efficient in the short and long term treatment of plica in the elbow joint.

• Clinics in Shoulder and Elbow
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• v.16 no.2
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• pp.163-169
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• 2013

Designs of total elbow arthroplasty have been evolving with clinical experiences. Newer implants are expected to resolve current limitations and improve long term outcomes. This review article focuses on the basic knowledge of unlinked and convertible total elbow arthroplasty. There have been a variety of designs of unlinked total elbow prostheses. Some implants are still used in the market, while others are no longer commercially available. Modified and newer designs include more congruent contact surface, stemmed implant, and radiocapitellar arthroplasty. Two convertible elbow prostheses have been developed, and one implant is currently available in Korea. Conversion from an unlinked to a linked mode is performed by adding a linking cap. Unlinked total elbow arthroplasty, which restores native elbow kinematics, has a biomechanical rationale of lowering polyethylene wear and loosening of implants. It can be indicated in younger and higher demand patients, who have adequate bone stock and soft tissues. Convertible total elbow arthroplasty broadens implant selection and simplifies revision surgery. These newer prostheses possibly improve the long term outcomes and resolve disadvantages of linked prostheses in total elbow arthroplasty.