• Clinical and Experimental Pediatrics
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• v.46 no.10
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• pp.996-1002
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• 2003

Purpose : In Rett syndrome patients, the incidence of sudden death is greater than that of the general population, and cardiac electrical instability including fatal cardiac arrhythmia is a main suspected cause. In this study, we are going to find out the possible cause of the higher risk of sudden death in Rett patients by the evaluation of heart rate variability, a marker of cardiac autonomic activity and corrected QT intervals. Methods : Diagnosis of Rett syndrome was made by molecular genetic study of Rett syndrome (MECP2 gene) or clinical diagnostic criteria of Rett syndrome. Heart rate variability and corrected QT intervals were measured by 24 h-Holter study in 12 Rett patients, and in 30 age-matched healthy children with chief complaints of chest pain or suspected heart murmurs. The were compared with the normal age-matched control. Results : Patients with total Rett syndrome, classic Rett syndrome, and Rett variants had significantly lower heart rate variability(especially rMSSD)(P<0.05) and longer corrected QT intervals than age-matched healthy children(P<0.05). Sympathovagal balance expressed by the ratio of high to low frequency(LF/HF ratio) also showed statistically significant differences between the three groups considered(P<0.05). Conclusion : A significant reduction of heart rate variability, a marker of autonomic disarray, suggests a possible explanation of cardiac dysfunction in sudden death associated with Rett syndrome.

• Journal of Music and Human Behavior
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• v.2 no.2
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• pp.15-31
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• 2005

Terminal pediatric patient include congenital metabolic abnormalities, chromosome aberrations, congenital anomalies, neuromuscular diseases and other incurable conditions as well as malignant tumors. One third of these diseases are cancers, and two thirds of cancers are lymphadenoma and leukemia. Terminal pediatric patient may feel fear, anger and frustration against treatment process in hospitals, lose control of themselves and stay in helplessness due to restrictions within controlled hospital environment. This study examined the relationship between hospitalized childrens behavior and music using Contextual Support Model of Music Therapya theory stating therapeutic music environments possess three elements of Structure, Autonomy support and Involvement, and increase childrens active engagement. Focused on these three therapeutic elements, this study analyzed music therapy cases of terminally ill children to examine the relationship between childrens behavior and music as environmental supportive medium in the environment. This study is on a single case case subject, a 10-year-old girl with acute lymphocytic leukemia. Nine sessions of music therapy activities were conducted and analyzed using qualitative method. Focusing on three therapeutic elements of Contextual Support Model, analysis of sessions was made on the basis of activities specifically designed for this study. Main music therapy activities included singing while playing musical instruments, singing while listening to music through CD player, making up songs, and searching for song lines. The findings of this study are as follows: a) in terms of Structure, music therapy suggested a direction for effective musical activities for terminally ill children by providing environments where child can sing, play musical instruments and make up songs; b) in terms of Autonomy support, music therapy encouraged childs voluntary participation by giving her chances to make choice while singing or playing musical instruments; c) in terms of Involvement, child could gain positive approval of the therapist and conduct musical activities in cooperation with the therapist. Music therapy serves as supportive medium in the environment, develops spontaneity and self-reliance in emotionally depressed children, and promotes voluntary attitudes in the restricted hospital environment. Based on the positive effects of music therapy, more studies need to be conducted with an approach to more various terminal pediatric patients.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1263-1272
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• 2002

Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.

• Childhood Kidney Diseases
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• v.14 no.1
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• pp.42-50
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• 2010

Purpose : The clinical characteristics and associated anomalies in children with solitary kidney (SK) were analyzed retrospectively. Methods : Total 38 children diagnosed to have SK at our hospital between December 1989 and December 2009 were recruited, and the clinical records including imaging studies were retrospectively reviewed. SK was defined as unilateral renal agenesis by imaging studies only, and patients with regression of unilateral dysplastic kidney were excluded. Results : Among total 38 patients, 12 were male. The median age at the diagnosis of SK was 6.5 months (at birth-13 years). SK was detected by prenatal ultrasonography in 14 patients and during work-up for renal or urinary tract diseases in 13 (including urinary tract infection in 7). In 10 patients, SK was detected incidentally. Anomalies in the SK were noted in 17 patients including vesicoureteral reflux in 11. Other anomalies in the genitourinary tract were present in 16 patients, and multi-organ-involving syndromes or chromosomal anomalies were detected in 9. The mean duration of follow-up was 9 years (9 months-20 years). Two patients developed chronic renal failure during follow-up, and the median serum creatinine concentration of the remaining 36 at their last follow-up was 0.6 mg/dL. Conclusion : SK may be isolated and clinically asymptomatic; it is frequently accompanied by other anomalies in genitourinary tract and other organs, some of which can induce progressive renal dysfunction. Early recognition of associated anomalies with SK and regular follow-up is recommended to reduce long-term risk.

• Korean journal of applied entomology
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• v.12 no.1
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• pp.1-21
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• 1973

Some experiments were conducted to investigate the effects of the chemosterilant, hempa, on the biology of the rice weevil, Sitophilus oryzae L., and the transmission of the lethal factors in the progeny. One to three days old adult males were fed on the wheat grains treated with concentrations of 0.0625, 0.125, 0.25, and $0.5\%$ of hempa water solution. The effects of the treatment on the mortality, longevity, and the performance of oviposition were examined for the Pl generation, and the hatchability and mortality in the postembryonic development were also tested in the $F_1,\;F_2,\;BC_1,\;F_3,\;and\;BC_2$ generations to analyze the inheritance of the lethal factors. The results obtained were summarized as follows. (1) The average longevity of the treated males were ranged from 26.6 to 30.4 days, and indicated no statistical differences. (2) The mortality of the treated males were ranged between $3.3\%\;and\;13.3\%$ and showed no statistical significance. (3) The overall mean number of eggs laid by a female mated to a treated male with concentrations of 0.0625, 0.125, 0.26 and $0.5\%$ were 3.78, 4.05, 3.75 and 3.61 for the respective treatments, and they were not differ significantly from those of control which were 3.60 per female per 3 day period. The unmated female laid 1.91 in the same period, and significantly differ from those in other experimental groups. (4) The overall mean hatchability of the eggs laid by the females mated with males that had been treated with various concentrations of hempa were 86.82, 64.77, 53.47, 40.33 and $24.78\%$ for the respective concentrations of 0, 0.0625, 0.125, 0.25 and $0.5\%$. The hatchability decreased with the increasing concentrations. (5) The minimum hatchabilities were obtained from the eggs laid in the period of 10-12 days after treatment, then the hatchability increased showing some recovery. The recovery seemed to be very much delayed for the males which had been treated with the greater concentrations. Such a difference in hatchability might be related with the sensitivity of the developmental stages of the sperms, and broader spectrum in the stages and severer effects seemed to be associated with the increased concentrations. (6) The overall mean of larval mortality in the $F_l$ generation were 6.55, 17.89, 27.40, 35.42 and $52.17\%$ for the respective concentrations of 0,0.0625, 0.125,0.25 and $0.5\%$. And there was a tendency to increase in the mortality with the increase of concentrations. (7) The correlation coefficients between per cent sterile eggs and larval mortality for the experimental plots of 0.125, 0.25 and $0.5\%$ treatments showed r=+0.83 and +0.85, respectively, and it seemed to be close correlation between the lethal effects on the embryonic and post-embryonic developments. (8) Since the $SC_{50}$ of the sterile eggs was $0.133\%$ and $SC_{50}$ of the larval mortality was $0.565\%$, it was considered that tile lethal factors expressed more in the egg stages than the larval stages. (9) The ratio of female to male in the $F_l$ adults showed 100 : 125, 100 : 108 and 100 : 124 for the plots of 0.125, 0.25 and $0.5\%$ treatments, respectively. And it n·as considered that the sex ratio distortions might occur with the higher concentrations. (10) When the F, males originated 1.on the eggs had been laid by p, in the period of 16-18 days after treatment, were crossed to normal females $(BC_1)$ and made sib matings $(F_2)$, the per cent sterile eggs of the $BC_1$ generation were 13.88 and $33.04\%$ , and were 31.01 and $38.73\%$ for the $F_2$generation with the plots of 0.0625 and $0.125\%$ treatment, respectively. And these seemed to be a results of the $F_1$ individuals are carrying some chromosomal aberrations (11) The larval mortality was the highest in the $F_2$ plot and followed the female backcross plot, and the least in the male backcrosses. (12) The proportions of 1st and 2nd instar larvae among the larval development at tile 17th day after oviposition were 10.98, 27.26, 32.98 and $15.73\%$ in the normal female $\times$ normal male, $F_1$ female$\times$normal male, normal $female \;\times F_1$ male and $female \;\times F_1$ male plots, respectively. It was considered that the larval development might be delayed by the treatment in the 2nd generation. (13) Per cent larval mortality and sterile eggs were greater in the $F_2$ sib mating plots $(F_3)$ than both of $F_2$ backcrosses. Therefore, it seemed that some of the recessive lethal mutations might affect in the further generations. (14) The sterility, induced by the treatment of chemosterilant, hempa, was considered as the result of the dominant lethal mutations due to chromosomal aberrations such as translocation and/or deletion. The effects of these lethal factors seemed to be inherited tip to 3rd generation after treatment.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.125-132
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• 2010

Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.

• Clinical and Experimental Pediatrics
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• v.51 no.1
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• pp.73-77
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• 2008

Purpose : p16 gene, mapped to the 9p21 chromosomal region, has emerged as a candidate tumor suppressor gene in human neoplasm. It is an inhibitor of cyclin-dependent kinase and inhibits Rb phosphorylation. In a variety of tumors including childhood acute lymphoblastic leukemia (ALL), deletion and/or mutation of the p16 gene has been found. Despite their high frequency, the prognostic importance of p16 alterations is still controversial in ALL and has been reported to be either unfavorable or similar to that of other patients. We studied the correlation between loss of p16 protein confirmed by immunohistochemical staining and clinical outcomes of patients diagnosed as ALL. Methods : We performed an immunohistochemical staining for p16 protein in 74 cases of bone marrow biopsy slide initially diagnosed as ALL between January 1998 and December 2006. We reviewed the clinical manifestations, laboratory findings, treatment outcomes retrospectively. Results : Of 74 slides, 12 were negative for p16 protein. Seven were males and 5 were females with a median age at diagnosis was 5.8 (1.3-18.8) years. Initial WBC were 17,225 $(500-403,300)/{\mu}L$. By immunologic surface marker analysis, 7 patients were early pre-B CALLA (+) and 5 patients were T-cell ALL. Two patients of intermediate risk group had relapsed and died. Three patients had family history of breast cancer. Four patients died and overall survival rates were $53.5{\pm}18.7%$. Conclusion : Loss of p16 protein is supposed to be an independent risk factor of childhood ALL associated with poor outcomes. In clinical setting, the clinician must take into account p16 status, not only at the genomic but also at the protein level. Further clinical experience on thoroughly investigated cases will help a better understanding between p16 status and clinical outcomes.

• The Korean Journal of Nuclear Medicine
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• v.35 no.5
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• pp.313-323
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• 2001

Purpose: The purpose of this study was to search activated genes that could be related to radiation adaptive response (RAR) induced by low-level radiation from $^{99m}Tc$ in human cell lines. Methods: We used gene discovery array (GDA) and representational difference analysis (RDA) methods. $^{99m}Tc$-pertechnetate was added to $2{\times}106/mL$ NC-37 cells (human lymphoblastic cells) to make concentrations ranging from 148 MBq/mL to 148 Bq/mL by serial 10 fold dilutions. After 44 hours, 2 Gy gamma irradiation was given to them using a Cs-137 cell irradiator. Results: As compared to the control (Con) group to which no $^{99m}Tc$ was added, those cells to which 148 and 14.8 KBq of $^{99m}Tc$ were added showed significantly lower damage to chromosomes, which was evaluated by metaphase analysis. Cells with 148 KBq $^{99m}Tc$ (T148 group) showed most significant protection. Activated genes in the T148 group as compared to Con group were evaluated by GDA and GDA methods. GDA revealed genes of casein kinase 2 (CK2) beta chain, immunoglobulins (lg), human leukocyte antigen (HLA)-B, and two novel genes. Twenty RAR related clones were selected by RDA method. The size of those genes was from 234 to 603 base pairs. Conclusions: RAR was induced by low dose irradiation from $^{99m}Tc$ in NC-37 cell lines. Genes related to the response included CK2, lg, HLA-B in human lymphoblastic cell lines.

• Journal of Animal Science and Technology
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• v.51 no.3
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• pp.185-192
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• 2009

Fatty acid synthase (FASN) is a multi-functional enzyme with a central role in the synthesis of long-chain fatty acid and has been considered as a positional candidate gene for BTA 19 quantitative trait loci (QTL) affecting milk-fat content and fatty acid composition. In this study, we sequenced the FASN gene in several cattle breeds including Hanwoo and imported beef cattle, and identified novel DNA polymorphisms and their linkage relationship in Hanwoo. We found a significant frequency difference of the FASN (AF285607) g.17924 A$\rightarrow$G polymorphism between Hanwoo (70%) and other breeds and this polymorphism has been known for an association with fatty acid composition in Angus. Furthermore, by direct DNA sequencing in 18 unrelated Hanwoo, we identified 27 SNPs including nine novel variations in the FASN gene. Among 27 SNPs identified in the FASN gene, four SNPs were further genotyped in 100 Hanwoo and 96 imported beef cattle, and analyzed for haplotype construction and association with beef quality traits. We performed haplotype block and linkage disequilibrium studies using four selected SNPs. Two different haplotype blocks (block A: g.10568 C$\rightarrow$T and g.11280 G$\rightarrow$ A; block B: g.13125 C$\rightarrow$T and g.17924 G$\rightarrow$A) were constructed and the block A in particular had a very high r2 (0.936), which indicated a nearly complete linkage disequilibrium existed between the g.10568 C$\rightarrow$T and g.11280 G$\rightarrow$A polymorphisms. A total of four major haplotypes (frequency > 0.05) were identified with the four polymorphisms including TATG (0.36), CGCG (0.31), CGTA (0.19) and TACG (0.06). Statistical association analysis revealed that the g.10568 C$\rightarrow$T and g.11280 G$\rightarrow$A polymorphisms in the FASN were significantly associated with meat color (P=0.004) and texture (P=0.0114). The g.13125 C$\rightarrow$T and g.17924 G$\rightarrow$A polymorphisms in the FASN were also significantly associated with back-fat thickness and quantity index (P=0.0179 and 0.0495, respectively). Our findings suggested that the FASN gene polymorphisms may be used for determining the (unsaturated) fatty acid contents and carcass trait in the Hanwoo beef.

• Clinical and Experimental Pediatrics
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• v.50 no.12
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• pp.1217-1224
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• 2007

Purpose : Due to its high potency against leukemic blasts, our institution has opted for the use of dexamethasone during acute lymphoblastic leukemia (ALL) remission induction, but in our most recent treatment protocol, CMCPL-2005, we shortened the length of steroid treatment from 4 to 3 weeks. We compared both the rates of remission induction and significant complications observed during induction with CMCPL-2005, with those noted for our previous protocol, CMCPL-2001. Methods : We retrospectively reviewed the records of patients diagnosed with ALL from January, 2001 to December, 2006 at the Department of Pediatrics, St. Mary's Hospital, the Catholic University of Korea. Data concerning age, sex, WBC count at diagnosis, immunophenotype, cytogenetic traits, and risk group were collected for each patient. Results of remission induction treatment were compared between the two patient groups. Infection and other major complications resulting from treatment were investigated according to NCI toxicity criteria. Results : A total of 141 and 88 patients received remission induction under CMCPL-2001 and CMCPL-2005 respectively. In the CMCPL-2001 group, 136 (96%) achieved complete remission while 82 (93%) achieved CR in the CMCPL-2005 group. Patients in the CMCPL-2005 group were more likely to undergo remission induction without experiencing major complications. However, with regards to steroid related toxicities such as infection, no significant differences were noted. Conclusion : We shortened the length of steroid administration from four to three weeks, yet found the remission induction rate to be comparable to that of our previous regimen. However, rates of steroid related toxicities such as infectious complications remain unchanged despite shortened exposure to dexamethasone.