Gitelman's Syndrome Associated with Chondrocalcinosis

Gitelman's syndrome (GS), a hereditary disease characterized by hypokalemia, hypomagnesemia, and hypocalciuria, is a salt-losing renal tubulopathy. Herein, we describe a case of a 28-year-old woman diagnosed with atypical GS accompanying chondrocalcinosis. One year ago, she presented with vomiting, hypokalemic metabolic alkalosis, and hypocalciuria, and was tested by diuretic challenge test. As a result, she was diagnosed with atypical GS with normomagnesemia and treated with spironolactone and potassium supplementation. Meanwhile, acute arthritis of the right 1st metatarsophalangeal joint occurred. On the radiographies of the knees, chondrocalcinosis was observed. To the best of our knowledge, this is the first report in Korea of GS with chondrocalcinosis. Antialdosterone therapy or magnesium supplementation is effective in preventing the progression of chondrocalcinosis; thus, early diagnosis and treatment of GS are important.

A Case of Hypertrophic Osteoarthropathy Associated with Lung Metastasis of Parotid Gland Mucoepidermoid Carcinoma

Hypertrophic osteoarthropathy is a syndrome characterized by periosteal new bone formation, arthritis, and clubbing of the fingers and toes. The majority of cases occur secondarily to the conditions associated with pulmonary, cardiac, gastrointestinal disorders or other systemic diseases. There are many cases with malignancy worldwide. We report the first patient who had hypertrophic osteoarthropathy due to metastatic cancer after surgical removal for mucoepidermoid carcinoma of the parotid gland.

Localized Mesenteric Vasculitis in a Patient with Polymyalgia Rheumatica

Polymyalgia rheumatica (PMR) is an uncommon disorder characterized by bilateral pain and stiffness in the shoulder and pelvic girdles. Polymyalgia rheumatica and giant cell arteritis (GCA) occur in the same patient population and share a common pathogenesis. Giant cell arteritis predominantly affects the cranial arteries and rarely involves the gastrointestinal tract. Moreover, giant cell arteritis has rarely been reported in Asians. Here, we present a case with 62-year-old Asian woman who developed polymyalgia rheumatica with localized vasculitis in the mesenteric arteries.

Osteonecrosis of the Humeral Head after Cerebral Angiography

A 79-year-old woman was admitted to our hospital for shoulder pain. A physical examination revealed a tender right shoulder with limitation of active, and preservation of passive, motion. She had undergone a cerebral angiography with coil embolization two months prior to admission. After the procedure, she was presented with pain in the right upper arm and shoulder. Due to persistent shoulder pain, an MRI of the shoulder was performed, and osteonecrosis of the humeral head was detected. We present a case of osteonecrosis of the humeral head after cerebral angiography.

A Case of Malignant Transformation in a Congenital Cystic Adenomatoid Malformation / 대한내과학회지

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare condition with the potential for malignant transformation. Several cases that presented with malignant changes have been reported worldwide. However, no report about a malignant transformation case in a CCAM in Korea has been published. We report the first patient who had a malignant change in a CCAM. A 32-year-old female underwent a bilobectomy for a cystic lung lesion that was a type 1 CCAM associated with malignant transformation. A biopsy specimen from the resected cystic lesion showed foci of adenocarcinoma.

Associations between TBX21 Gene Polymorphisms and Korean Patients with Behcet's Disease / 대한류마티스학회지

OBJECTIVE: Behcet's disease (BD) is a chronic systemic inflammatory disease with unknown etiology. A number of clinical and laboratory findings suggest a strongly polarized Th1 immune response in BD. T-bet is a newly identified Th1 specific T-box transcription factor selectively expressed in Th1 cells. However, it is not yet clear whether the T-bet protein is involved in the proposed Th1-mediated pathogenesis of BD at the transcriptional level. Therefore, this study investigated the potential associations of two single nucleotide polymorphisms (SNPs) at positions -99 (C/G) and -1993 (T/C) in the exon and promoter regions of the TBX21 gene with susceptibility to BD in the Korean population. METHODS: 105 patients with BD and 105 healthy controls were studied. All subjects were genotyped using restriction fragment length polymorphism analysis. The genotypes of the two groups were compared with the chi-square or Fisher's exact tests. RESULTS: The genotypic and allelic distributions of the two SNPs did not differ significantly between the two groups. Furthermore, no associations between the polymorphisms and clinical manifestations were found, except a central nervous system manifestation and arthritis. Furthermore, no associations between the polymorphisms and severity were identified. CONCLUSION: TBX21 gene polymorphisms were not associated with susceptibility, clinical manifestations, or severity of BD in the Korean population.

Changes of Apoptosis After X-irradiation During the Hindlimb Development in the Rat Fetus / 체질인류학회지

Ionizing radiation exerts harmful effect during the limb development, but the exact mechanism is still largely unknown. In this study, 2 Gy of X-ray irradiated to the rat fetuses on gestation day of 13.7 when the hindlimb buds appear, and sacrificed at GD 14.7, GD 15.7 and GD 16.7, respectively. To reveal the changes of apoptotic figures between control and experimental groups, TUNEL immunohistochemistry and confocal laser scanning microscopy were carried. Mean body weight of fetuses of irradiated groups were decreased significantly compared to the control group. Numerical digit anomalies and asymmetries between right and left sides were increased significantly in the irradiated group compared to control group. Some digit anomalies were increased significantly in the right side. Radiation-induced decrement of the density of apoptotic figures on GD 14.7 was presumed to be related with foot and digit anomalies.

Removal of the Humeral Nail by using a Cannulated Screw: A Case Report / 대한정형외과학회잡지

Fractures of the humeral shaft are commonly encountered by orthopaedic surgeons, mainly in the age group ranging between adolescence and adult, in which treatment can be mananged operatively using plate and screws, intramedullary nail or external fixator. In this case, a patient had an operation for humerus shaft fracture, an intramedullary nail was applied and bone union occured. When removing the metal, and because the proximal entry of the intramedullary nail could not be tightly interlocked with the metal removal set due to entry screw thread wear, it was necessary to devise a certain tool. A 6.5 mm diameter cannulated screw was used as a alternative device for removal of interlocking intramedullary nail.