PURPOSE: Chromosomal abnormalities of abortuses have been used to investigate common etiologies of spontaneous abortion, but the frequencies and types of spontaneous abortions have demonstrated considerable variation among different countries and races. MATERIALS AND METHODS: A cytogenetic analysis of 75 abortuses was performed at GenDix, Inc. from January 2006 to December 2007. RESULTS: The frequency of chromosome abnormalities in abortuses was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was present in 62.5% (15/24 cases) of cases and the most frequent trisomy was trisomy 21 with an occurrence rate of 26.6% (4/15 cases). The following was trisomy 22 (3/15 cases) and trisomy 20 (2/15 cases). The average maternal age for abnormal karyotypes was 34.3+/-3.3. CONCLUSION: Cytogenetic analysis of abortus is important for diagnosis and genetic counseling of patients with spontaneous abortion.
Abnormal Karyotype ; Abortion, Spontaneous ; Chromosome Aberrations ; Chromosomes, Human, Pair 20 ; Chromosomes, Human, Pair 22 ; Cytogenetic Analysis ; Cytogenetics ; Down Syndrome ; Female ; Genetic Counseling ; Humans ; Karyotype ; Maternal Age ; Mosaicism ; Pregnancy ; Trisomy

PURPOSE: Early diagnosis of congenital hearing loss through the neonatal hearing screening test minimizes language defect. This research intends to identify frequency of congenital hearing loss in infants through neonatal hearing screening test with the aim of communicating the importance of hearing test for infants. METHODS: From May 20, 2003 to May 19, 2004, infants were subjected to Automated Auditory Brainstem Response test during one month of birth to conduct the test with 35 dB sound. Infants who passed the 1st round of hearing test, were classified into 'pass' group whereas those who did not were classified into 'refer' group. Infants who did not 'pass' in the hearing test conducted within one month of birth were subjected to re-test one month later, and if classified as 'refer' during the re-test, they were subjected to the diagnosis for validation of hearing loss by requesting test to the hearing loss clinic. RESULTS: There was no difference among the 'pass' and 'refer' group in terms of form of childbirth, weight at birth and gestational age. In the 1st test, total of 45 infants were classified into 'refer' group. Six among 35 who were subjected to re-test (17%) did not pass the re-test, and all were diagnosed with congenital hearing loss. This corresponds to 0.35% (3.5 per 1, 000) among total number of 1, 718 subjects. CONCLUSION: In our study the congenital hearing loss tends to be considerably more frequently than congenital metabolic disorder. Accordingly, newly born infants are strongly recommended to undergo neonatal hearing screening test.
Diagnosis ; Early Diagnosis ; Evoked Potentials, Auditory, Brain Stem ; Gestational Age ; Hearing Loss* ; Hearing Tests ; Hearing* ; Humans ; Infant ; Mass Screening* ; Parturition

BACKGROUND: Renal transplantation has become widely accepted as the treatment of choice for children with end-stage renal disease (ESRD). Two important criteria for successful pediatric renal transplantation are achievement of optimal growth, developement, and possession of a long functioning renal transplant. METHODS: In order to establish better strategies for successful pediatric renal transplantation outcome, we reviewed the results of 129 primary renal transplantations performed at our institution. One hundred twenty-nine renal allografts were transplanted to 129 pediatric ESRD patients under the age of 21 between July 1979 and November 1997. Mean age at transplantation was 13.4 yrs (<5 yrs: 8, 5-9 yrs: 21, > or =10 yrs: 100) and male to female ratio was 87:42. Original renal diseases were known in 90 recipients (69.8%) including 7 congenital or hereditary diseases (5.4%). Donor kidneys were obtained from 93 living-related donors (LRD), 20 living-unrelated donors (LUD), and 16 cadavers (CAD). Mean follow-up period was 57.8 months. Immunosuppression was done with AZA Pds (n=5) before 1985 and with CyA Pds (n=79) and AZA CyA Pds (n=45) thereafter. RESULTS: Twenty five grafts were lost (20.7%) due to 20 chronic rejections, 3 recurrences of the original renal disease and 2 patient deaths with functioning graft. Overall 1-, 3-, 5-, 10-yr graft and patient survival rates were 95.1%, 88.2%, 80.2%, 61.0% and 98.5%, 96.7%, 95.2%, 95.2%, respectively. In the multivariate analysis, the presence of acute rejection (p=0.014) and LUD (p=0.015) were significant prognostic factors for poor graft survival. Significantly superior growth in height after transplantation was observed in children transplanted at prepubertal age (<13 yrs) than in those transplanted after puberty (> or =13 yrs). CONCLUSIONS: Long-term graft survival in pediatric renal transplantation can be obtained by aggressivemanagement of acute rejection, judicious surveillance for immunosuppression, and preferred selection of LRD. In addition, we recommend early renal transplantation in prepubertal children with ESRD on the basis of the significant posttransplant increment in height in prepubertal children.
Adolescent ; Allografts ; Cadaver ; Child ; Female ; Follow-Up Studies ; Genetic Diseases, Inborn ; Graft Survival ; Humans ; Immunosuppression ; Kidney Failure, Chronic ; Kidney Transplantation* ; Kidney* ; Male ; Multivariate Analysis ; Puberty ; Recurrence ; Survival Rate ; Tissue Donors ; Transplants