Journal of Korean medical science
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J. Korean Med. Sci. · Mar 2011
Childhood cancer mortality and birth characteristics in Korea: a national population-based birth cohort study.
To examine the relationship between birth characteristics and childhood cancer mortality, a retrospective cohort study of Korean children was conducted using data collected by the national birth register between 1995 and 2006, which were then individually linked to death data. A cohort of 6,479,406 children was followed from birth until their death or until December 31, 2006. Poisson regression analyses were used to calculate rate ratios of childhood cancer deaths according to birth characteristics. ⋯ The birth characteristics examined in this study (i.e. , birth weight, gestational age, multiple births, parental ages, and number of siblings) were generally found to be not significantly associated with childhood cancer mortality, and the associations did not vary meaningfully with gender nor with cancer sites. However, among children aged 5-11 yr, higher birth weight was associated with elevated childhood cancer mortality (rate ratio = 1.28, 95% confidence interval 1.04-1.58). Our results offer no overall associations between childhood cancer mortality and birth characteristics, but suggest that the association may be specific to age group.
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J. Korean Med. Sci. · Mar 2011
Long-term follow-up after feminizing genital reconstruction in patients with ambiguous genitalia and high vaginal confluence.
We evaluated the long-term results of feminizing genital reconstruction in patients with genital ambiguity with high vaginal confluence. The medical records of 10 consecutive patients with ambiguous genitalia and high vaginal confluence who underwent feminizing genital reconstruction from 1996 to 2007 were reviewed. Seven patients had congenital adrenal hyperplasia, one had mixed gonadal dysgenesis, one had partial androgen insensitivity, and one had 5-alpha reductase deficiency syndrome. ⋯ The patient with urogenital mobilization had persistent urogenital sinus. Feminizing genitoplasty using the Gonzalez method showed good long-term results in patients with ambiguous genitalia and Congenital adrenal hyperplasia. The procedure is less invasive than other approaches and results in excellent cosmetic outcomes; and complications can be corrected by relatively simple procedures.
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J. Korean Med. Sci. · Mar 2011
Predictors of pulmonary function response to treatment with salmeterol/fluticasone in patients with chronic obstructive pulmonary disease.
Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease and responses to therapies are highly variable. The aim of this study was to identify the predictors of pulmonary function response to 3 months of treatment with salmeterol/fluticasone in patients with COPD. A total of 127 patients with stable COPD from the Korean Obstructive Lung Disease (KOLD) Cohort, which were prospectively recruited from June 2005 to September 2009, were analyzed retrospectively. ⋯ The prediction model for the FEV(1) change after 3 months of treatment included wheezing history, pre-bronchodilator FEV(1), post-bronchodilator FEV(1) change and emphysema extent on CT (R = 0.578). The prediction models for the FVC change after 3 months of treatment included pre-bronchodilator FVC, post-bronchodilator FVC change (R = 0.533), and those of IC/ TLC change after 3 months of treatment did pre-bronchodilator IC/TLC and post-bronchodilator FEV(1) change (R = 0.401). Wheezing history, pre-bronchodilator pulmonary function, bronchodilator responsiveness, and emphysema extent may be used for predicting the pulmonary function response to 3 months of treatment with salmeterol/fluticasone in patients with COPD.
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J. Korean Med. Sci. · Mar 2011
The expression of ERCC1, RRM1, and BRCA1 in breast cancer according to the immunohistochemical phenotypes.
We studied the expression of BRCA1, ERCC1, and RRM1 which play an important role in DNA repair systems in breast cancer. Immunohistochemical staining for EGFR, BRCA1, ERCC1, and RRM1 were performed by using a tissue microarray made from 230 breast cancer patients. Patients were classified into luminal A, luminal B, HER-2, and triple negative breast cancer (TNBC) types according to ER, PR, and HER-2 expression. ⋯ The expression level of ERCC1 was the lowest in TNBC type (P = 0.031), ERCC1 negativity was more prominent in TNBC and luminal B groups than luminal A and HER-2 groups (P = 0.013). Cases with EGFR overexpression showed high expression of RRM1 and BRCA1 (P = 0.046, and 0.004, respectively). In conclusion, the expression of ERCC1 is particularly lower in TNBCs than other types of breast cancers.
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J. Korean Med. Sci. · Feb 2011
Case ReportsHaddad syndrome with PHOX2B gene mutation in a Korean infant.
Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is an extremely rare disorder with variable symptoms. Recent studies described that congenital central hypoventilation syndrome had deep relation to the mutation of the PHOX2B gene in its diagnosis and phenotype. ⋯ These clinical manifestations were compatible with congenital central hypoventilation syndrome and Hirschsprung's disease, and polyalanine 26 repeats in the PHOX2B gene supported the diagnosis of congenital central hypoventilation. We described a first case of Haddad syndrome in Korean and its clinical and genetic characteristics were discussed.