Prevalence of orofacial clefts in Korean live births

OBJECTIVE: The aim of this study was to investigate the prevalence of orofacial clefts and identify the characteristics of other birth defects associated with orofacial clefts in Korea. METHODS: This study used data from the Congenital Anomaly Survey conducted by the Korea Institute for Health and Social Affairs. The survey was conducted on birth defects documented during 2005 to 2006 in 2,348 medical institutes in Korea. This study was performed using data from medical insurance claims of the National Health Insurance Corporation. The prevalence of orofacial clefts was defined as the number of cases per 10,000 live births. RESULTS: Among the 883,184 live births, 25,335 infants had birth defects, which included 980 infants with orofacial clefts. The prevalence of total orofacial clefts in the total live births was 11.09 per 10,000, accounting for 3.9% of all birth defects. The most common orofacial cleft was cleft palate only (n=492), followed by cleft lip only (n=245) and cleft lip with cleft palate (n=243), with prevalence rates of 5.57, 2.77, 2.75 per 10,000 live births, respectively. While malformations of the circulatory system; digestive system; eyes, ears, face, and neck; and musculoskeletal system were most frequently encountered among infants with a cleft lip with or without a cleft palate, anomalies of most organ systems were notably observed among infants with cleft palate only. CONCLUSION: The prevalence of orofacial clefts in Korea was similar or slightly lower than that of other countries. This study informs present status of orofacial clefts and gives baseline data to lay the foundation stone for Korea's registry system of orofacial clefts.

Prevalence of Congenital Heart Defects Associated with Down Syndrome in Korea

Congenital heart defect (CHD) is common in infants with Down syndrome (DS), which is the principle cause of mortality. However, there is no data available for the frequency and types of CHD in infants with DS in Korea. We investigated the frequency of CHD in infants with DS in Korea. After the survey on birth defects was conducted throughout the country, the prevalence of CHD in DS in 2005-2006 was calculated. This study was conducted based on the medical insurance claims database of the National Health Insurance Corporation. The number of total births in Korea was 888,263 in 2005-2006; of them, 25,975 cases of birth defects were identified. The prevalence of DS was 4.4 per 10,000 total births, accounting for 1.5% of all birth defects. Of the 394 infants with DS, 224 (56.9%) had a CHD. Atrial septal defect was the most common defect accounting for 30.5% of DS followed by ventricular septal defect (19.3%), patent duct arteriosus (17.5%), and atrioventricular septal defect (9.4%). Our study will be helpful to demonstrate the current status of DS and to identify the distribution of CHD in infants with DS in Korea.

Horizontal Ridge Augmentation with Piezoelectric Hinge-Assisted Ridge Split Technique in the Atrophic Posterior Mandible / 대한악안면성형재건외과학회지

Onlay bone grafting, guided bone regeneration, and alveolar ridge split technique are considered reliable bone augmentation methods on the horizontally atrophic alveolar ridge. Among these techniques, alveolar ridge split procedures are technique-sensitive and difficult to perform in the posterior mandible. This case report describes successful implant placement with the use of piezoelectric hinge-assisted ridge split technique in an atrophic posterior mandible.

Two Cases of Refractory Adult-Onset Still's Disease Responding to Anakinra / 대한내과학회지

Adult-onset Still's disease (AOSD) is a systemic inflammatory disorder with variable clinical features. The interleukin (IL)-1 receptor antagonist anakinra has been proposed as an alternative effective treatment in refractory AOSD. We report, for the first time in Korea, two cases of refractory AOSD in which anakinra treatment produced a clinical response. The first patient had frequent clinical flare-ups with fever, sore throat, myalgia, and pleuritic chest pain despite treatment with methotrexate and etanercept. In the second patient, treatments with various immunosuppressive agents failed to control the disease activity. Treatment with anakinra 100 mg/day was initiated in both cases. A complete clinical remission and improvement in the laboratory parameters were observed. The steroid dose was tapered without further clinical flare-ups. Anakinra appears to be an effective alternative treatment modality in patients with AOSD refractory to conventional disease-modifying anti-rheumatic drugs and corticosteroid therapy.

Two Cases of Refractory Adult-Onset Still's Disease Responding to Anakinra / 대한내과학회지

Adult-onset Still's disease (AOSD) is a systemic inflammatory disorder with variable clinical features. The interleukin (IL)-1 receptor antagonist anakinra has been proposed as an alternative effective treatment in refractory AOSD. We report, for the first time in Korea, two cases of refractory AOSD in which anakinra treatment produced a clinical response. The first patient had frequent clinical flare-ups with fever, sore throat, myalgia, and pleuritic chest pain despite treatment with methotrexate and etanercept. In the second patient, treatments with various immunosuppressive agents failed to control the disease activity. Treatment with anakinra 100 mg/day was initiated in both cases. A complete clinical remission and improvement in the laboratory parameters were observed. The steroid dose was tapered without further clinical flare-ups. Anakinra appears to be an effective alternative treatment modality in patients with AOSD refractory to conventional disease-modifying anti-rheumatic drugs and corticosteroid therapy.

HRCT Findings and Clinical Features in Non-specific and Usual Interstitial Pneumonia with Connective Tissue Diseases / 대한류마티스학회지

OBJECTIVE: The purpose of this study is to assess the clinical characteristics and the serial changes of high resolution CT (HRCT) findings and to correlate those with the results of clinical parameters in biopsy proven nonspecific interstitial pneumonia (NSIP) and usual interstitial pneumonia (UIP) with connective tissue diseases (CTD). METHODS: Retrospective analysis was made of forty patients with CTD diagnosed of NSIP and UIP from a single tertiary hospital between January 1996 and February 2006. RESULTS: UIP was common in rheumatoid arthritis, systemic sclerosis and Sjogren's syndrome, while NSIP was frequent in polymyositis/dermatomyositis. No significant difference was found in the clinical characteristics of patients with NSIP and UIP. In initial HRCT findings, extents of honeycombing and reticulation pattern were significantly more in UIP-CTD than in NSIP-CTD. In bronchoalveolar lavage (BAL) results, proportion of alveolar macrophages was significantly higher in NSIP-CTD than in UIP-CTD. In NSIP-CTD, significant increment in the extent of reticulation and honeycombing was noted in the serial HRCT findings despite the aggressive treatment. Significant correlation was found between leukocytosis and honeycombing change in NSIP-CTD. Despite no significant difference of survival between two groups, patients with UIP-CTD seem to have a higher mortality than those with NSIP-CTD. CONCLUSION: It is suggested that chest HRCT and BAL fluid analysis may be helpful in the differential diagnosis of NSIP- and UIP-CTD and leukocytosis in initial blood test might be predictive of honeycombing progression in NSIP-CTD. Further study will be required to compare with the prognosis of NSIP- and UIP-CTD.

Successful Treatment of Interstitial Pneumonitis Induced by Leflunomide / 대한류마티스학회지

Leflunomide is a disease-modifying antirheumatic drug that has been available in Korea since 2003. Leflunomide induced interstitial pneumonitis has been reported as an adverse effect in other countries but not in Korea. A 57-year-old woman was treated with leflunomide since she had been resistant to methotrexate, hydroxychloroquine and sulfasalazine. She developed high fever, dyspnea, and non-productive cough 3 months after the administration of leflunomide. She was diagnosed leflunomide-induced interstitial pneumonitis based on history, physical, laboratory, radiologic and pathologic findings. The patient was treated by prednisolone 1 mg/kg/day with cholestyramine 24 g/day, resulting in dramatic improvement. Here we report a case of leflunomide induced pneumonitis treated successfully with high dose steroid.

Two Cases of Mucosa-Associated Lymphoid Tissue Lymphoma of Lung in Patients with Sjogren's Syndrome / 대한류마티스학회지

Sjogren's syndrome is an autoimmune exocrinopathy characterised by decreased lacrymal and salivary gland function, resulting in keratoconjunctivitis sicca and dry mouth. The occurrence of malignant lymphoma is the most serious complication of Sjogren's syndrome. Recent reports have found that MALT lymphoma accounts for 46~56% of the malignant lymphoma that develop in patients with Sjogren's syndrome. The most common site of MALT lymphoma in patients of Sjogren's syndrome is parotid gland, but we experienced two cases of MALT lymphoma of lung in patients with Sjogren's syndrome. We report these cases with review of literature.

Association between Macrophage Migration Inhibitory Factor Gene Polymorphism and Rheumatoid Arthritis / 대한류마티스학회지

OBJECTIVE: Rheumatoid arthritis (RA) is characterized by the interaction of multiple mediators, especially cytokines. Macrophage migration inhibitory factor (MIF) is a proinflammatory cytokine and has been shown to be involved in RA. This study explored the association of the MIF gene polymorphism with RA in Korean. METHODS: 114 patients with RA, and 114 age and gender matched healthy controls were studied. Patients and controls were genotyped for a single nucleotide polymorphism (SNP) in the 5'-flanking region at position -173 of the MIF gene. RESULTS: No significant differences in MIF gene polymorphism were observed in RA compared to healthy controls. No association with disease severity was detected for the MIF gene polymorphism. CONCLUSION: MIF -173 G/C polymorphism did not appear to be associated with genetic susceptibility and disease severity in Korean RA patients.