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.

Hand-foot-and-mouth disease, a highly contagious viral infection, occurs more common in children than in adults. However, there was a recent outbreak of Coxsackievirus A6-induced infection with an atypical presentation among the adult population. Stevens– Johnson syndrome is a severe mucocutaneous disease characterized by extensive necrosis and detachment of the epidermis, and this condition is commonly caused by medications.Herein, we describe a 30-year-old male patient taking allopurinol for the management of gout. The patient presented with numerous erythematous papules, vesicles, and patches with mucosal eruptions on the whole body, oral mucositis, and fever, and he was finally diagnosed with hand-foot-and-mouth disease.

Hand-foot-and-mouth disease, a highly contagious viral infection, occurs more common in children than in adults. However, there was a recent outbreak of Coxsackievirus A6-induced infection with an atypical presentation among the adult population. Stevens– Johnson syndrome is a severe mucocutaneous disease characterized by extensive necrosis and detachment of the epidermis, and this condition is commonly caused by medications.Herein, we describe a 30-year-old male patient taking allopurinol for the management of gout. The patient presented with numerous erythematous papules, vesicles, and patches with mucosal eruptions on the whole body, oral mucositis, and fever, and he was finally diagnosed with hand-foot-and-mouth disease.

The aim of this study was to investigate the usefulness of a clinical screening test [the Korean Infant and Child Developmental Test (KICDT)] compared to language specific tests: the sequenced language scale for infant (SELSI) and the Preschool Receptive-Expressive language Scale (PRES) in children with delayed language development. A retrospective chart review was conducted on 615 children who visited the Department of Pediatrics at Chonbuk National University Hospital from January 2013 to December 2016. All patients were evaluated with KICDT as a clinical screening test and SELSI or PRES as a language specific test. Language Developmental Quotients (LDQs) from the KICDT were compared with the Receptive Language Quotient (RLQ) and expressive language quotient (ELQ) from the SELSI or PRES. The sensitivity, specificity and predictive values of LDQ of KICDT were calculated by comparing with SELSI/PRES. Language DQs from the KICDT were significantly correlated with the RLQ (r=0.706), ELQ (r=0.768), and total language quotient (TLQ) (r=0.766) from the SELSI/PRES (p<0.05). In cross tabulation, the patients belonging to the retardation groups in both KICDT and SELSI/PRES were 417 (67.8%). Otherwise, patients belonging to the normal group in KICDT but not in SELSI/PRES were 151 (24.6%). Sensitivity and specificity of LDQ of KICDT relative to SELSI/PRES were 72.3% and 92.2% respectively (p<0.05). Our data suggests that clinical screening tests alone, not cumbersome language specific tests, can determine language developmental delays in children.

BACKGROUND/AIMS: Although cardiovascular (CV) risk factors are well established, some patients experience acute myocardial infarction (AMI) even without any risk factors. METHODS: We analyzed total 11,390 patients (63.6 ± 12.6 years old, 8,401 males) with AMI enrolled in Korea Acute Myocardial Infarction Registry-National Institute of Health from November, 2011 to December, 2015. Patients were divided into two groups according to the presence of any CV risk factors (group I, without risk factors, n = 1,420 [12.5%]; group II, with risk factors, n = 9,970 [87.5%]). In-hospital outcomes were defined as in-hospital mortality and complications. One-year clinical outcomes were defined as the composite of major adverse cardiac events (MACE). RESULTS: Group I was older (67.3 ± 11.6 years old vs. 63.0 ± 12.7 years old, p < 0.001) and had higher prevalence of female gender (36.2% vs. 24.8%, p < 0.001) than the group II. Group I experienced less previous history of angina pectoris (7.0% vs. 9.4%, p = 0.003) and the previous history of cerebrovascular accidents (3.4% vs. 6.9%, p < 0.001). In-hospital mortality (2.6% vs. 3.0%, p = 0.450) and complications (20.6% vs. 20.0%, p = 0.647) were no differences between the groups. And 1 year clinical outcomes (5.7% vs. 5.1%, p = 0.337) were no differences between the groups. In multivariate logistic regression analysis, serum creatinine level (hazard ratio, 1.35; 95% confidence interval, 1.05 to 1.75; p = 0.021) were independent predictors of 1 year MACE in patients without any CV risk factors. CONCLUSIONS Elderly female patients were prone to develop AMI even without any modifiable CV risk factors. We suggest that more intensive care is needed in AMI patients without any CV risk factors who have high serum creatinine levels.

OBJECTIVES: To examine the factors which affect the improvement or the recurrence of disease after intralesional steroid injection in patients with oral lichen planus (OLP). METHODS: Sixty-two patients diagnosed as OLP were treated with intralesion corticosteroid injection. To evaluate the objective severity of OLP, total severity score of OLP was assessed. To examine the factors affecting the therapeutic effect of intralesional steroid injection, factors were compared between the symptom-improved group and symptom-not-improved group. To assess the symptom of patients, patients filled in 10-cm visual analogue scale, along with an Oral Health Impact Profile-14. RESULTS: Symptoms improved in 50 patients (80.6%, symptom-improved group), but not in 12 patients (symptom-not-improved group). In a comparison between both group, OLP with lip involvement was the only variable which showed significant difference (P=0.008). Twenty-nine of 50 patients had recurrence of OLP (58%, recurrence group) and 21 of 50 patients did not have recurrence (42%, no-recurrence group). Statistically significant differences were not found between both groups. CONCLUSION: This study suggested that patients suffering from OLP with lesion on the lip might not be effective in treating with intralesional corticosteroid injection.
Humans ; Lichen Planus, Oral* ; Lip ; Oral Health ; Recurrence

“Saber-sheath” trachea is a deformity of lower cervical or intrathoracic trachea. The configuration of the deformity is marked coronal narrowing associated with sagittal widening. This deformity is associated with chronic obstructive pulmonary disease. We report a case of patient with saber-sheath who underwent total laryngectomy. Although the patient had no tracheal collapse after the total laryngectomy, crusted discharge was increased. Diagnosis of the saber-sheath trachea, possible causes, and clinical implications are discussed.
Congenital Abnormalities ; Diagnosis ; Humans ; Laryngectomy ; Pulmonary Disease, Chronic Obstructive ; Trachea

OBJECTIVES: To analyze laryngopharyngeal reflux (LPR) as an acidic, nonacidic, or mixed type according to 24-hour multi-channel intraluminal impedance (MII) pH monitoring and the clinical characteristics of each type. METHODS: Ninety patients were prospectively enrolled in this study. All patients underwent 24-hour MII pH monitoring as a diagnostic tool. Eighty-three patients were diagnosed with LPR. The patients were classified into three groups according to the pH of the hypopharyngeal probe: the acid reflux group, nonacid reflux group, and mixed reflux group. Subjective symptoms and objective findings were evaluated based on patients' responses to the Short Form 12 Survey (SF-12), LPR health-related quality of life (LPR-HRQOL), reflux symptom index, and reflux finding score. RESULTS: The results of each group were compared. As a result, 34 patients were classified into the nonacid reflux group and 49 into the mixed reflux group. There were no patients classified as having acid reflux alone. There was no significant difference between the two groups when comparing the reflux symptom index, reflux finding score, LPR-HRQOL, or the mental component score of the SF-12. However, the physical component score of the SF-12 was higher in the nonacid reflux group (P=0.018). The DeMeester composite score (P=0.015) and total number of LPR events (P=0.001) were lower in the nonacid reflux group than in the mixed reflux group. CONCLUSION: In conclusion, no LPR patient had only acid reflux. The nonacid reflux LPR patients showed similar clinical characteristics and findings compared to the mixed reflux group, but exhibited significantly fewer LPR episodes.
Electric Impedance ; Humans ; Hydrogen-Ion Concentration ; Laryngopharyngeal Reflux* ; Prospective Studies ; Quality of Life

The tongue, especially its lateral part, is the most common site of oral tumors. Patients who undergo glossectomy for the treatment of tongue cancer may experience difficulty in proper functioning for pronunciation, chewing, swallowing, and oral hygiene maintenance; therefore, a palatal augmentation prosthesis can be used to restore function of the tongue. In this case, an implant overdenture was used in a patient who had residual ridge resorption and obliteration of alveololingual sulcus after undergoing glossectomy for tongue cancer treatment. In addition, a palatal augmentation prosthesis with a metal framework, support, and retention part was fabricated. The palatal vault was reduced, so that even with limited tongue movement, adequate tongue-palate contact could be achieved. After placement of the definitive prostheses, the patient showed improvement in the functions of chewing, swallowing, and pronunciation.
Deglutition ; Denture, Overlay* ; Glossectomy ; Humans ; Mastication ; Oral Hygiene ; Prostheses and Implants* ; Rehabilitation* ; Tongue Neoplasms* ; Tongue*

After the resection of oral tumor, defected maxillofacial structure caused functional difficulties including phonetics, mastication and esthetic aspects. In this cases, implant retained prosthesis can contribute to the functional enhancement. Regardless of the success rate in grafted bone, however, the soft tissue usually had a shape which was susceptible to inflammation. Moreover, infected graft bone presented rapid destruction. For success of the prosthetic treatment, adequate soft tissue treatment and frequent recall check are the essential factors to the successful implant prognosis.
Humans ; Inflammation ; Mastication ; Maxillofacial Prosthesis ; Phonetics ; Prognosis ; Prostheses and Implants ; Rehabilitation* ; Transplants