Suk-Joo Choi

Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome

AbstractCurrarino syndrome (CS) is a rare autosomal dominant disease that has been described as a triad of partial sacral agenesis, anorectal anomalies, and a presacral mass. Mutations in the HLXB9 gene have been suggested to be the genetic background of CS. In this study, sequence analysis of the HLXB9 gene was performed in two familial and two sporadic Korean patients showing the clinical features of CS, and two mutations in the HLXB9 gene were identified only in the two familial cases. One mutation (R295W) has been reported previously, and the other (H260_Q261delinsLELLELE) is novel. Consistent with previous observations, the phenotypic expression of the mutation carriers in the CS families varies from mild to severe, including the complete triad. This study confirms that familial CS patients in Korea have the same genetic background as other ethnicities and reaffirms the phenotype variability among CS patients with the same mutation.

Iodine status in healthy pregnant women in Korea: a first report

AbstractPurposenProper iodine intake is important during pregnancy for both fetal neurodevelopment and maternal thyroid function. Korea is known as a high iodine intake area. However, there are no data regarding iodine status in pregnant Korean women. Therefore, we evaluated the iodine status of pregnant women in Korea by measuring urine iodine concentration.MethodsThis study had an observational, prospective design. We enrolled 344 healthy pregnant women who visited Samsung Medical Center in Korea for a routine antenatal checkup between April 2012 and September 2013. We measured iodine and creatinine concentration (Cr) in spot urine samples and TSH level in serum at the time of enrollment.ResultsThe median urinary iodine concentration (UIC) and UIC adjusted by Cr were 427.3xa0μg/L and 447.9xa0μg/gCr, respectively. There was no difference in median UIC according to trimester of pregnancy (P valuexa0=xa00.953). Serum TSH level was not different according to UIC level when subjects were grouped according to WHO iodine recommendations (P valuexa0=xa00.401).ConclusionsThe median UIC of healthy pregnant women in Korea was 427.3xa0μg/L and 447.9xa0μg/gCr, which are more than adequate according to WHO criteria. Considering the wide range of UIC, we recommend active education about adequate iodine intake during pregnancy in areas where iodine intake is more than adequate according to WHO criteria.

Comparison of perinatal outcomes in small-for-gestational-age infants classified by population-based versus customised birth weight standards

The objective of this study was to derive a customised birth weight standard curve in our institute and to compare the perinatal outcomes of small‐for‐gestational‐age (SGA) births classified by population‐based versus customised birth weight standards.

The effect of perinatal anxiety on bronchiolitis is influenced by polymorphisms in ROS-related genes

BackgroundExposure to perinatal anxiety affects disease susceptibility in offspring but studies on the association between perinatal anxiety and gene polymorphisms are lacking. This study aimed to elucidate the interaction between perinatal anxiety and polymorphisms in antioxidant defense and innate immunity genes on the development of respiratory tract infections (RTIs) during early infancy.MethodsTrait anxiety levels in 440 women were assessed by the State-Trait Anxiety Inventory during late gestation. The occurrence of RTIs, including bronchiolitis, during the first year of life was assessed by parent-reported doctor diagnosis. Polymorphisms in glutathione S-transferase P-1 (GSTP1, rs1695) and CD14 (rs2569190) were genotyped using the TaqMan assay. Copy number variations of GSTT1 were measured by real-time polymerase chain reaction.ResultsExposure to high levels of perinatal anxiety increased the risk of bronchiolitis in the first year of life (adjusted odds ratio [aOR], 1.30; 95% confidence interval [CI]: 1.00–1.80), in particular among children with the AGu2009+u2009GG genotype of GSTP1 or the GSTT1 null genotype (aOR 3.36 and 2.79). In infants with the TCu2009+u2009CC genotype of CD14, high levels of perinatal anxiety were associated with an increased risk of upper RTI, lower RTI, and bronchiolitis (aOR 2.51, 4.60, and 4.31, respectively).ConclusionsPerinatal maternal anxiety levels affect the occurrence of bronchiolitis in offspring. The effect of perinatal anxiety on the occurrence of bronchiolitis during infancy was influenced by genetic polymorphisms in antioxidant defense and innate immunity genes.

Introduction of a nomogram for predicting adverse pregnancy outcomes based on maternal serum markers in the quad screen test

PurposeThe aim of this study was to develop a nomogram that can calculate a total score, derived from each serum marker in the quad screen test, for systematically predicting adverse pregnancy outcomes (APOs).MethodsWe retrospectively reviewed 3684 singleton pregnant women who underwent a quad screen test and gave birth at a single medical centre from January 2005 to December 2010. The serum marker data from the quad screen test and pregnancy outcomes were used to construct logistic regression models for predicting the risks of APOs. APO was defined as the presence of at least one of the following: preeclampsia, preterm delivery before 34xa0weeks of gestation, small for gestational age, foetal loss, and foetal demise. A graphic nomogram was generated to represent the scoring model using the regression coefficient of each serum marker.ResultsA nomogram for the prediction of APOs using each serum marker in the quad test was developed based on the logistic regression analysis. The positive predictive values for the subsequent development of an APO were ascended stepwise as the calculated score increases. The area under the receiver operating characteristic curve of this score for the prediction of APO was 0.596 (95xa0% confidence interval 0.569–0.623).ConclusionsWe here introduced a nomogram for stratifying the risk of APOs in patients with abnormal serum markers in the quad screen test. Although the validity of the nomogram is too weak to be used in clinical routine, but it may provide additional information for practitioners counselling pregnant women and for predicting APOs.