PURPOSE: MEN1 gene mutation causes multiple endocrine neoplasia type 1. It also suggests that somatic MEN1 gene mutation plays a role in sporadic endocrine tumor. In this study, we examined whether somatic mutations of MEN1 gene are responsible for sporadic parathyroid tumors and correlate with clinical manifestations of parathyroid tumors. METHODS: Somatic mutation of MEN1 gene in the formalin-fixed, paraffin-embedded parathyroid tumor tissue from 8 adenomas, 2 carcinomas and 1 hyperplasia were analyzed by direct sequencing. Clinicopathological parameters were reviewed from medical records and compared with the mutational data. RESULTS: Eight of eleven (73%) sporadic parathyroid tumors had somatic MEN1 mutations of 14 different types. In the 14 types, 13 were a point mutation which is composed of 8 missense mutations, 2 nonsense mutations and 3 silent mutations. One of 14 types is a frameshift deletion of 27 base pairs in exon 2. Somatic mutation was frequent in the exon 2 and exon 10. Four types of polymorphism were found. There was no correlation between the presence of mutations and clinicopathological phenotype of parathyroid tumors. CONCLUSION: This result suggests that somatic mutation of MEN1 gene plays a definite role in sporadic parathyroid tumor formation.
Adenoma ; Base Pairing ; Codon, Nonsense ; Exons ; Hyperplasia ; Medical Records ; Multiple Endocrine Neoplasia Type 1 ; Mutation, Missense ; Phenotype ; Point Mutation

No abstract available.
Animals ; Antibiotics, Antifungal/*therapeutic use ; Humans ; Immunosuppression/*methods ; Protein Structure, Tertiary ; T-Lymphocytes/*immunology ; *Transduction, Genetic

A 47-year-old woman with stage IV chronic kidney disease developed a fistula between common carotid artery (CCA) and internal jugular vein (IJV) during central catheterization of the right IJV. The patient was treated with a self-expandable graft stent, which achieved successful closure of the carotid-jugular fistula. As demonstrated in our case, self-expandable graft stents could be a feasible treatment option for CCA-IJV fistulas without additional interventional procedures such as balloon angioplasty.
Angioplasty, Balloon ; Carotid Artery, Common* ; Catheterization, Central Venous ; Female ; Fistula* ; Humans ; Jugular Veins* ; Middle Aged ; Renal Insufficiency, Chronic ; Stents* ; Transplants*

The Landsteiner–Wiener (LW) antigen is a type of red blood cell antigen. Anti-LW appears in various situations, including alloantibodies, autoantibodies, and even transiently occurring antibodies. Anti-LW has similar characteristics to anti-D, so it can interfere with interpreting pre-transfusion tests and finding compatible blood. This paper introduces three cases in whom anti-LW was detected through antibody identification tests. All three cases were examined using the column agglutination technique with ID-DiaPanel (Bio-Rad, Hercules, CA, USA) on a LISS/Coombs card, ID-DiaPanel p (Bio-Rad) on a NaCl/Enzyme card, and ID-DiaPanel (Bio-Rad) on a LISS/Coombs card using red blood cells treated with dithiothreitol. The auto-control test, direct antiglobulin test, and umbilical cord blood test were also performed. In all three cases, the reaction with D-positive panel cells was stronger than that with the D-negative panel cells, and two of them showed a pan-agglutinated reaction in ID-DiaPanel p (Bio-Rad) with NaCl/Enzyme card. They were reported as anti-LW, and as in these cases, anti-LW can occur under a range of conditions and interfere with proper transfusion. Therefore, it is important to identify anti-LW accurately, and if anti-LW is present, the transfusion of D-negative ABO matched blood should be recommended because of the low expression of the LW-antigen. On the other hand, D-positive blood is not a contraindication when an urgent transfusion is needed.

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Child ; Chromatography, Gas ; Dehydration ; Diagnosis ; Diethylpropion* ; Humans ; Hyperammonemia ; Infant ; Korea ; Male ; Mass Spectrometry ; Metabolism ; Methylmalonyl-CoA Decarboxylase ; Propionic Acidemia*

PURPOSE: Ligament reattachment technique using a suture anchor appears to show satisfactory functional outcomes and mechanical stability compared with conventional bone tunnel technique. This study was prospectively conducted in order to evaluate functional outcomes of modified Brostrom procedures using the suture bridge technique for chronic ankle instability in athletes. MATERIALS AND METHODS: Twenty eight athletes under 30 years of age were followed for more than two years after undergoing the modified Brostrom procedure using the suture bridge technique. Functional evaluation consisted of the foot and ankle outcome score (FAOS), foot and ankle ability measure (FAAM) score. Range of motion and time to return to exercise were evaluated using a periodic questionnaire. Talar tilt angle and anterior talar translation were measured through stress radiographs for evaluation of mechanical stability. RESULTS: FAOS improved significantly from preoperative mean 59.4 points to 91.4 points (p<0.001). Daily living and sport activity scores of FAAM improved significantly from preoperative mean 50.5, 32.5 points to 94.8, 87.3 points, respectively (p<0.001). Talar tilt angle and anterior talar translation improved significantly from preoperative mean 16.8degrees, 13.5 mm to 4.2degrees, 4.1 mm at final follow-up (p<0.001). Times to return to exercise were as follows: mean 10.2 weeks in jogging, 15.4 weeks in spurt running, 13.1 weeks in jumping, 11.5 weeks in walking on uneven ground, 9.1 weeks in standing on one leg, 7.2 weeks in tip-toeing gait, 8.4 weeks in squatting, and 10.6 weeks in descending stairs. CONCLUSION: Modified Brostrom procedure using the suture bridge technique showed satisfactory functional outcomes for chronic ankle instability in athletes. Optimal indication and cost-effectiveness of the suture bridge technique will be studied in the future.
Ankle* ; Athletes* ; Follow-Up Studies ; Foot ; Gait ; Humans ; Jogging ; Leg ; Ligaments ; Prospective Studies ; Range of Motion, Articular ; Running ; Sports ; Suture Anchors ; Sutures* ; Walking ; Surveys and Questionnaires

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Child ; Chromatography, Gas ; Dehydration ; Diagnosis ; Diethylpropion* ; Humans ; Hyperammonemia ; Infant ; Korea ; Male ; Mass Spectrometry ; Metabolism ; Methylmalonyl-CoA Decarboxylase ; Propionic Acidemia*

BACKGROUND: Alongside the extent of removal and patients’ survival in the management of brain tumors, health-related quality of life (HRQOL) has become an important consideration. The purpose of this study is to evaluate the change of HRQOL in brain tumor patients before and after surgery and to assess the associated factors that contribute to the change of HRQOL. METHODS: A total of 258 patients who underwent surgical treatment were enrolled in this study. The European Organization for Research and Treatment of Cancer Quality of Life Questionnaire 30 (EORTC QLQ-C30) and the 20-item EORTC QLQ-Brain Neoplasm (QLQ-BN20) were used to assess HRQOL. Patients were asked to fill out the questionnaires before and 3-6 months after surgery. RESULTS: Global QOL (p<0.001) and emotional function (p<0.018) were significantly improved after surgery. Physical function (p=0.015) was significantly aggravated. Among the symptoms, headache, pain and nausea and vomiting were significantly decreased (p<0.01, p=0.041, p<0.001, respectively), while dyspnea, communication deficit and weakness of the legs were increased (p=0.005, p=0.040, and p=0.014, respectively). Preoperative neurologic deficit (p=0.019) and tumor diameter (p=0.016) were significantly related to the patients who showed aggravation of global QOL after brain tumor surgery. In the aggravated global QOL group, common complaints and concerns included role function, appetite loss, financial difficulty and future uncertainty. CONCLUSION: In brain tumor patients, HRQOL has improved after surgery. Role function, appetite loss, financial difficulty and future uncertainty were important factors for HRQOL in brain tumor patients treated with surgery. Although there is National Health Insurance and Medical Aid program in Korea, financial difficulty and future uncertainty are much more important in influencing QOL than previously thought. The results of this short-term follow up preliminary study suggest that several factors were related to HRQOL, Further research is needed to evaluate the long term change of HRQOL and enhance the global QOL by analyze related factors.
Appetite ; Brain Neoplasms* ; Brain* ; Dyspnea ; Follow-Up Studies ; Headache ; Humans ; Korea ; Leg ; National Health Programs ; Nausea ; Neurologic Manifestations ; Quality of Life* ; Uncertainty ; Vomiting

BACKGROUND: There have been various reports in the literature regarding the conservative management of pituitary apoplexy, pituitary incidentalomas and Rathke cleft cysts (RCCs). However, to the best of our knowledge, spontaneous involution of cystic sellar mass has rarely been reported. We report 14 cases of cystic sellar masses with spontaneous involution. METHODS: A total of 14 patients with spontaneous regression of cystic sellar masses in our hospital were included. The median age was 35 years (range, 5–67), and 8 patients were male. Clinical symptoms, hormone study and MRI were evaluated for all patients. The initial MRI showed all 14 patients with RCCs. Eight patients were presented with sudden onset of headache, and 1 patient with dizziness. Another patient, a 5-year-old child, was presented with delayed growth. Three patients had no symptoms via regular medical work up. All 14 patients had no visual symptoms. The follow-up period ranged from 5.7 to 42.8 months, with the mean of 17.3 months. RESULTS: The mean initial tumor size was 1.29 cm³ (range, 0.05 to 3.23). After involution, the tumor size decreased to 0.23 cm³ (range, 0 to 0.68) without any treatments. Repeated MRI showed a spontaneous decrease in tumor volume by 78% (range, 34 to 99). The initial MRI showed that the tumor was in contact with the optic chiasm in 7 patients, while compressing on the optic chiasm in 3 patients. Five patients were initially treated with hormone replacement therapy due to hormone abnormality. After the follow-up period, only 2 patients needed a long-term hormone replacement therapy. CONCLUSION: The spontaneous involution of RCCs is not well quantified before. Their incidence has not been well demonstrated, but this phenomenon might be underreported. Conservative management can be a treatment option in some RCCs without visual symptoms, even in those that are large in size and in contact with the optic nerve via imaging study.
Central Nervous System Cysts ; Child ; Child, Preschool ; Dizziness ; Follow-Up Studies ; Headache ; Hormone Replacement Therapy ; Humans ; Incidence ; Magnetic Resonance Imaging ; Male ; Optic Chiasm ; Optic Nerve ; Pituitary Apoplexy ; Tumor Burden

Inflammatory pseudotumor of the lung is considered to be a rare, benign, neoplastic lesion, consisting mainly of spindle mesenchymal cells, sometimes in such a way that its histological appearance mimics that of a spindle cell sarcoma, fibrous histiocytoma or fibrosarcoma. A case of inflammatory pseudotumor of the lung occurring in a 13-year-old boy is reported with pathologic findings, including its ultrastructure. The patient had had no symptoms and accidentally discovered his condition after a chest X-ray examination at a regular school physical check up. The mass was located in the suprahilar area of the left lung. Exploratory thoracotomy revealed a large mass that was removed, together with the left upper lobe of the lung. Microscopically, the mass was composed of numerous interstitial inflammatory cells, mainly lymphoplasma cells. Ultrastructurally, the spindle-shaped mesenchymal cells were arranged haphazadly and the normal pulmonary structure was nearly totally destroyed. Emphasis is given to complete resection of the tumor for both diagnostic and therapeutic purposes.
Adolescent ; Child ; Fibrosarcoma ; Granuloma, Plasma Cell ; Histiocytoma, Benign Fibrous ; Humans ; Lung ; Male ; Plasma Cell Granuloma, Pulmonary* ; Sarcoma ; Thoracotomy ; Thorax