Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study

Background@#Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less known in East Asian countries, including Korea. We aimed to investigate the genetic factors related to vitamin D levels in Korean people using a genome-wide association study (GWAS). @*Methods@#We included 12,642 subjects from three different genetic cohorts consisting of Korean participants. The GWAS was performed on 7,590 individuals using linear or logistic regression meta- and mega-analyses. After identifying significant single nucleotide polymorphisms (SNPs), we calculated heritability and performed replication and rare variant analyses. In addition, expression quantitative trait locus (eQTL) analysis for significant SNPs was performed. @*Results@#rs12803256, in the actin epsilon 1, pseudogene (ACTE1P) gene, was identified as a novel polymorphism associated with vitamin D deficiency. SNPs, such as rs11723621 and rs7041, in the group-specific component gene (GC) and rs11023332 in the phosphodiesterase 3B (PDE3B) gene were significantly associated with vitamin D deficiency in both meta- and mega-analyses. The SNP heritability of the vitamin D concentration was estimated to be 7.23%. eQTL analysis for rs12803256 for the genes related to vitamin D metabolism, including glutamine-dependent NAD(+) synthetase (NADSYN1) and 7-dehydrocholesterol reductase (DHCR7), showed significantly different expression according to alleles. @*Conclusion@#The genetic factors underlying vitamin D deficiency in Korea included polymorphisms in the GC, PDE3B, NADSYN1, and ACTE1P genes. The biological mechanism of a non-coding SNP (rs12803256) for DHCR7/NADSYN1 on vitamin D concentrations is unclear, warranting further investigations.

Predictive Factors of Central Lymph Node Metastasis in Papillary Thyroid Microcarcinoma / 대한내분비외과학회지

PURPOSE: Despite the excellent overall prognosis for patients with papillary thyroid microcarcinoma (PTMC), the rate of central lymph node (CLN) metastasis has been reported to be as great as 60% and the optimal surgical extent of PTMC has been controversial. The aim of this study is to identify factors for predict CLN metastasis in patients with PTMC. METHODS: We conducted a retrospective study of 535 patients with PTMC who underwent total thyroidectomy with prophylactic CLN dissection between Jan. 2008 and Aug. 2011. We analyzed the association of CLN metastasis and clinicopathologic characteristics. RESULTS: CLN metastasis was found in 181 patients (33.8%). Results of univariate analysis showed an association of younger than 45 years of age, male gender, a tumor size greater than 5 mm, bilaterality, multiplicity, extrathyroidal extension, and positivity of resection margin with CLN metastasis. Of these, results of multivariate analysis showed that age (P=0.003), gender (P=0.004), tumor size (P5 mm), male gender, young age (<45 yr), extrathyroidal extension, and positive resection margin were determined as the predictive factors for CLN metastasis, which occurred in approximately one third of patients with PTMC. Therefore, prophylactic CLN dissectionshould be considered in patients with PTMC who have these factors through investigation before surgery.

Risk factors for the development of Clostridium difficile colitis in a surgical ward / 대한외과학회지

PURPOSE: Clostridium difficile colitis (CDC) is a nosocomial infection. We attempted to discover the risk factors for the development of CDC in patients admitted to our surgical ward. METHODS: We conducted a retrospective chart review of all patients admitted to our surgical ward between January 2010 and July 2011. CDC was confirmed when toxin A/B or toxin B polymerase chain reaction was detected in the stool and clinical symptoms, such as diarrhea, were present. We divided patients into the CDC and non-CDC groups, and compared the clinical features between the two groups. RESULTS: The rate of CDC occurrence was 0.4% (19/4,720 patients). Univariate analysis showed that colectomy (P < 0.001), hospital stays longer than 10 days (P < 0.001), aged over 55 years (P < 0.001) and transfer from medical ward (P = 0.009) were significant parameters for CDC. Multivariate analysis showed that colectomy (P < 0.001; odds ratio [OR], 8.405; 95% confidence interval [CI], 2.927 to 24.132) and hospital stays longer than 10 days (P = 0.035; OR, 10.253; 95% CI, 1.176 to 89.392) were high risk factors for CDC occurrence in the surgical ward. CONCLUSION: The risk factors for CDC in a surgical ward could be colectomy and a long duration of hospitalization. Therefore, clinicians should consider the possibility of CDC when patients undergo colectomy, are admitted for a long time, and have postoperative diarrhea.

Abdominal compartment syndrome caused by a bulimic attack in a bulimia nervosa patient / 대한외과학회지

We present a rare case of abdominal compartment syndrome due to a bulimic attack in a 19-year-old female patient with bulimia nervosa. She was admitted to our emergency room with complaints of progressive abdominal pain following bulimia. Computed tomography showed dilated stomach with food and air pressed other visceral organs and major abdominal vessels. Decompression using nasogastric tube or gastric lavage tube failed. At laparotomy, we performed gastrotomy and decompression was performed. After decompression, she fell into hypovolemic shock due to bleeding in the intra-gastric and peritoneal cavity. Twelve hours after the operation, the patient died due to refractory hypovolemic shock from uncontrolled bleeding following decompression of abdominal compartment. It should keep in mind that binge-eating habits in patients with bulimic nervosa could cause abdominal compartment syndrome due to gastric distension and this may be a potentially fatal condition.