One Case of Primary Hyperparathyroidism Diagnosed with Hypercalcemia after using Teriparatide / 대한골다공증학회지

Primary hyperparathyroidism is a disease that causes hypercalcemia and abnormal bone metabolism due to an increase in parathyroid hormones, and the occurrence rate of bone fracturing is higher in patients with primary hyperparathyroidism. Parathyroid hormones have recently frequently been used as an osteogenesis catalyst treatment for osteoporosis in the elderly. This research study examined the case study that was experienced on the diagnosis and treatment of primary hyperparathyroidism caused by adenoma and extreme hypercalcemia that was discovered in menopausal women with bone fractures and extreme osteoporosis.

Two Series of Familial Cases With Unclassified Interstitial Pneumonia With Fibrosis

Several children presenting with mild symptoms of respiratory tract infection were diagnosed with unclassified interstitial pneumonia with fibrosis. Their clinical and radiological findings were similar to those of acute interstitial pneumonia, but there were some differences in the pathological findings. Unclassified interstitial pneumonia with fibrosis is characterized by histological findings of centrilobular distribution of alveolar damage and bronchiolar destruction with bronchiolar obliteration. This report describes two different series of familial cases of unclassified interstitial pneumonia with fibrosis, which developed almost simultaneously in the spring. Some of the individual cases showed rapidly progressive respiratory failure of unknown cause, with comparable clinical courses and similar radiological and pathological features, including lung fibrosis. Each family member was affected almost simultaneously in the spring, different kinds of viruses were detected in two patients, and all members were negative for bacterial infection, environmental and occupational agents, drugs, and radiation. These findings implicate a viral infection and/or processes related to a viral infection, such as an exaggerated or altered immune response, or an unknown inhaled environmental agent in the pathogenesis of unclassified interstitial pneumonia with fibrosis.

A Case of Campomelic Dysplasia without Sex Reversal

Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia. He underwent a tracheostomy at the age of three months for severe laryngomalacia after a number of repeated hospitalizations due to respiratory problems and died at the age of four months from progressive respiratory failure. He was diagnosed as having CD based on a novel frameshift mutation (p.Gln458ArgfsX12) in the SOX9 gene, the mutation which has not yet been reported in Korea.

Bronchiectasis in Children: 10-Year Experience at a Single Institution

PURPOSE: Bronchiectasis in children is still one of the most common causes of childhood mortality in developing countries. The aim of this study was to investigate the epidemiological characteristics, clinical features, underlying etiologic factors, and distinct change in the management of patients with bronchiectasis at Asan Medical Center Children's Hospital of Seoul. METHODS: A retrospective study of children diagnosed with bronchiectasis was conducted between January 1999 and December 2008. All patients underwent a comprehensive examination to identify etiologic factors. Data analysis in terms of age at onset, initial presenting symptoms, underlying etiology, distinct change in treatment, distribution of pulmonary involvement on computed tomography (CT), and causative microbiological flora triggering secondary infections was performed. RESULTS: The median age at the time of the diagnosis of bronchiectasis was 7.6 years (range, 2 months to 18 years). Persistent coughing was the most common symptom. The underlying etiologies identified in 79 patients (85.8%) included bronchiolitis obliterans (32.6%), childhood respiratory infection (20.6%), interstitial lung disease (17.3%), immunodeficiency (8.6%), and primary ciliary dyskinesia (4.3%). In 53 children (67%), the identified cause led to a distinct and individualized change in management. The distribution of CT abnormalities had no correlation with the underlying cause of bronchiectasis. CONCLUSIONS: Selected Korean children with bronchiectasis were reviewed to identify diverse underlying etiologies. All children with bronchiectasis should be comprehensively investigated because identifying underlying causes may have a major impact on their management and prognosis.

A Clinical Observation of Patients with Hypertrophic Cardiomyopathy and Implantable Cardioverter-Defibrillators

BACKGROUND AND OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is one of the most common heritable cardiac diseases. Patients with HCM are prone to ventricular tachyarrhythmias, and implantable cardioverter-defibrillator (ICD) implantation is recommended in high-risk patients to prevent sudden death. Clinical and tachycardial characteristics in patients with HCM have not been studied systematically. SUBJECTS AND METHODS: Between April 1996 and February 2006, 23 patients with HCM underwent implantation of ICDs. ICDs were indicated for primary prevention in 9 patients and for secondary prevention in 14 patients. Clinical features, follow-up events and intracardiac electrograms were reviewed. RESULTS: During a median follow-up period of 561 days (range 16 to 2,694 days), a total of 51 episodes of ventricular tachycardia (VT) occurred in 6 patients, while only one episode of ventricular fibrillation (VF) was recorded. There were 45 (64.2%) appropriate shocks [30 defibrillation shocks in 5 patients and 15 antitachycardia pacings (ATP) in 2 patients] in 6 patients, and 25 (35.7%) inappropriate shocks in 7 patients. The coupling intervals and VT cycle lengths were highly variable within individual patients. Over-drive acceleration in response to ATP was observed in 1 patient. CONCLUSION: As ventricular tachycardia is the main ventricular tachyarrhythmia in patients with HCM, an empirical ATP setting for VTs appears to be mandatory even in patients without previously documented VT. Based on the analyses of the intracardiac electrograms (presence of overdrive acceleration, variations in coupling intervals and cycle lengths), triggered activity may have an important role in the mechanism of a ventricular tachycardia.

The Efficacy and Safety of an Immunosuppressive Regimen Including the Use of Mycophenolate Mofetil and an Interleukin-2 Monoclonal Antibody in Heart Transplant Patients

BACKGROUND AND OBJECTIVES: An immunosuppressive regimen including the use of mycophenolate mofetil (MMF) and an interleukin-2 monoclonal antibody (IL2mAb) has shown promise to prevent acute rejection after heart transplantation. There has been a lack of report on the evaluation of the efficacy and safety of this regimen in patients receiving heart transplants in Korea. SUBJECTS AND METHODS: From November 1992 to December 2003, 111 consecutive patients who had received heart transplants in our institute were classified into two groups: patients who received the immunosuppressive regimen with MMF and an IL2mAb (group A, n=51) and patients who did not receive the regimen (group B, n=60). We compared the clinical outcomes of patients in each group including the survival rate and the occurrence of acute rejection and infection at 24 months post transplantation. RESULTS: Both drugs were tolearated in all patients except in 5 patients who complained of gastrointestinal side effects due to MMF. Despite a longer ischemic time (137.4+/-54.6 vs. 92.3+/-25.8 hours, p<0.05) and a lower serum level of cyclosporine (212.3+/-66.8 vs. 259.1+/-62.1 ng/mL, p<0.05), the rate of treatment for acute rejection was lower in group A than in group B (16% vs. 53%, p<0.05). In addition, the median time to the first treatment for acute rejection was almost twice as long for group A as for group B (91 vs. 43 days, p<0.05). The 2-year survival rate and the incidence of major infection requiring hospitalization in both groups were 94% vs. 88% and 26% vs. 21%, respectively, which were not statistically different. CONCLUSION: An immunosuppressive regimen including the use of MMF and an IL2mAb is efficacious and safe as a prophylaxis against acute rejection without the increased risk of major infection in patients who have received heart transplants in Korea.