Two Case of Primary Aldosteronism Induced by Aldosterone Producing Adrenal Adenoma in a Family

Primary aldosteronism, is defined as a group of disorders characterized by the excess of aldosteron, with suppressed rennin activity, resulting in hypertension and hypokalemia. In most cases, primary aldosteronism is sporadic due to a unilateral adrenal adenoma or bilateral adrenal hyperplasia. Familial hyperaldosteronism is a rare cause of primary aldosteronism and its prevalence has not been established well. We describe two cases of primary aldosteronism in a family involving a sister and brother due to an aldosterone producing adenoma in the left adrenal gland. Their hypokalemia and hypertension were cured by complete resection of the adrenal adenoma. Genetic analyses could not be done because of patients' rejection.

Mutational Analysis of the NF1 Gene in Two Families with Neurofibromatosis 1 Accompanied by Pheochromocytoma

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant inherited disorders affecting the nervous system. NF1 is associated with mutations in the NF1 gene, which is located on chromosome sub-band 17q11.2 and contains 57 exons spanning approximately 300 kb of genomic DNA. NF1 is caused by a loss of function mutation of the NF1 gene, a tumor suppressor gene, which encodes for neurofibromin, a GTPase-activating protein (GAP) involved in the negative regulation of Ras activity. The GAP-related domain, which is encoded for by exons 20-27a, is one of the most important functional domains in neurofibromin. The cysteine-serine-rich domain has been recognized as an important functional domain in NF1-related pheochromocytomas. As the result of many genetic analyses of NF1-related pheochromocytomas, pheochromocytoma has generally been recognized as a true component of NF1. We recently experienced two families with NF1 accompanied by pheochromocytoma. The proband of family 1 is a 31-year-old female diagnosed with NF1 and pheochromocytoma. Gene analysis of the proband and her sister showed that the mutation of the NF1 gene (c.7907+1G>A) led to the skipping of exon 53 during NF1 mRNA splicing. The proband of family 2 is a 48-year-old male who was diagnosed with the same condition. Gene analysis demonstrated the mutation of the NF1 gene (c.5206-8C>G) with missplicing of exon 37. These novel germline mutations did not fall into the GAP-related nor the cysteine-serine-rich domains, but into the C-terminal area of the NF1 gene. This suggests that the correlation between the genotype and phenotype of NF1-related pheochromocytoma is somewhat difficult to characterize. Further studies will be necessary to confirm the function of the C-terminal area of the NF1 gene and its contribution to the development of NF1 and pheochromocytoma.

A Case of the Type B Insulin Resistance Syndrome with Chronic Hepatitis B

Type B insulin resistance syndrome is rare autoimmune disease that is characterized by various abnormalities of glycemic homeostasis, from hyperglycemia caused by extreme insulin resistance to fasting hypoglycemia. It can combine with other autoimmune diseases, most commonly systemic lupus erythematosus. It usually occurs in women and accompanies acanthosis nigricans, hyperandrogenism, and, in many cases, ovary dysfunction. The diagnosis of type B insulin resistance syndrome is based largely on the presence of insulin receptor autoantibodies and hyperglycemia, or hypoglycemia and hyperinsulinemia. In some cases, patients with the type B insulin resistance have been successfully treated with immunosuppressive therapy and plasmapheresis. We experienced type B insulin resistance syndrome in a patient with chronic hepatitis B and used only plasmapheresis for treatment. The immunosuppressive therapy was omitted due to the state of activation of chronic hepatitis B. We present this case with a review of relevant literature.

A Case of Scedosporium Apiospermum Pneumonia in an Immunocompetent Patient / 대한내과학회지

Scedosporium apiospermum, an asexual form of Pseudallescheria boydii, is a saprophytic mold with a worldwide distribution. It may cause severe pulmonary or disseminated infections in immunocompromised patients who have undergone organ transplantation, have hematological malignancies, or have received corticosteroid therapy. However, in immunocompetent patients, it usually produces localized infection and has been reported to cause pneumonia after near-drowning in polluted water. We present here the case of an immunocompetent 72-year-old woman with pneumonia caused by S. apiospermum.

A Case of Ascites and Extensive Abdominal Distension Caused by Reversible Pulmonary Arterial Hypertension Associated with Graves' Disease

Patients with hyperthyroidism can develop left ventricular dysfunction and heart failure, but severe pulmonary hypertension association with hyperthyroidism is rarely seen. Herein, we describe the case of a 27-year-old female who presented with abdominal distension accompanied by pulmonary arterial hypertension and Graves' disease. Her pulmonary arterial hypertension was improved by treating the hyperthyroidism and pulmonary artery hypertension. Additionally, the patient's symptoms of right-side heart failure improved after pulmonary arterial pressure was reduced. Hyperthyroidism should be regarded as a reversible cause of associated pulmonary arterial hypertension.

Evaluation of Stress in Korean Patients with Diabetes Mellitus Using the Problem Areas in Diabetes-Korea Questionnaire

BACKGROUND: It is known that diabetes and stress are directly or indirectly related, and that it is important to evaluate stress in patients with diabetes. The relationship between Korean diabetics and diabetes-related stress has never been reported. The objective of this study was to develop a stress questionnaire suitable for use with Korean diabetics and to evaluate its utility. METHODS: This study subjects were 307 Korean diabetics, aged 40 to 74 years old, who visited the Department of Endocrinology and Metabolism at Gachon University Gil Hospital, Yeungnam University Medical Center, and Inha University Hospital in Korea between March 2006 and February 2008. We developed a Korean version of Polonsky's Problem Areas in Diabetes (PAID) stress questionnaire (PAID-K) and used it to assess degrees of stress in our sample of Korean patients. We evaluated the utility of the questionnaire and analyzed the relationships between clinical characteristics of the study subjects and degrees of stress. RESULTS: Cronbach's alpha for PAID-K was 0.95, and PAID-K scores were significantly correlated with Hypoglycemia Fear Survey scores (r=0.44, P<0.05) and State Trait Anxiety Inventory-6 scores (r=0.21, P<0.05). PAID-K scores were significantly higher in patients with longer durations of diabetes, patients using insulin, and female patients (P=0.02, P=0.038, and P=0.001, respectively). The score also tended to increase as HbA1c levels increased, except for very high HbA1c levels (above 11%) (P for trend<0.05). CONCLUSION: We developed the PAID-K questionnaire and demonstrated its utility to evaluate levels of stress in diabetic patients in Korea.

Prolonged Extreme Thrombocytosis in a Postsplenectomy Patient with Hereditary Spherocytosis / 대한혈액학회지

We report a case of prolonged extreme reactive thrombocytosis in a post-splenectomy patient with hereditary spherocytosis. A 29-year-old female patient presented with gall stones detected incidentally by abdominal ultrasonography. Her laboratory findings showed hemolytic anemia with spherocytosis on the peripheral blood smear and increased osmotic fragility. She was diagnosed with hereditary spherocytosis and underwent a laparoscopic cholecystectomy and splenectomy. After undergoing surgery, the hemolytic anemia was resolved but thrombocytosis was newly detected. Nineteen months after the splenectomy, the thrombocytosis was still persistent and extremely high. To our knowledge, this is the first report of a prolonged extreme reactive thrombocytosis after a splenectomy in Korea.

Pachydermoperiostosis Accompanied by Heart Failure

Pachydermoperiostosis or primary hypertrophic osteoarthropathy is an uncommon disease of acromegaloid facial feature, but characterized by unique phenotype (digital clubbing and pachydermia) and distinctive radiographic appearances like periostosis. We experienced a case with complete form of pachydermoperiostosis accompanied by heart failure. He presented with typical features consisting of clubbing with enlargement of the hand, thickening of facial skin and periosteal new bone formation involving lower leg. Echocardiography revealed severely decreased left ventricular systolic function. Treatment with medications resulted in an improvement of cardiac function and symptom. There is no previous report documenting pachydermoperiostosis accompanied by heart failure. We report that case for the first time.

A Case of Severe Hyponatremia Associated with Hypopituitarism due to Hemorrhagic Fever with Renal Syndrome / 대한신장학회지

Most of the patients with hemorrhagic fever with renal syndrome (HFRS) by Hantaviruses recover completely. However, the prevalence of hypopituitarism as sequel of HFRS may be approximately 10%. However, it is rare for hyponatremia to present as a manifestation of hypopituitarism due to HFRS. A 42-year-old Asian woman presented with anorexia, nausea, and vomiting. She had a history of HFRS 7 years ago. During her first hospital admission, her serum sodium was 103 mmol/L. The rapid adrenocorticotropic hormone (ACTH) stimulation test showed no abnormal findings suggesting the possibility of adrenal insufficiency. After she underwent fluid therapy for 5 days, her serum sodium level was slightly increased to 131 mmol/L, and her clinical symptoms were improving. The next day after she was discharged, she suffered from the same symptoms and was admitted to our hospital again. On the day of her second admission, her serum sodium was 117 mmol/L. A combined pituitary function test showed diminished function of the anterior pituitary gland, which led to secondary adrenal insufficiency. Magnetic resonance imaging findings of her sella were compatible with empty sella turcica. After the replacement of prednisolone, her serum sodium levels returned to normal. Pituitary dysfunction should be included in the differential diagnosis of severe hyponatremia, especially in patients who suffered HFRS. This case also suggests that the rapid ACTH stimulation test has limitations with regard to the differential diagnosis of primary or secondary adrenal insufficiency.

Gastrointestinal amyloidosis secondary to chronic tophaceous gout / 대한내과학회지

Secondary amyloidosis is associated with infectious, inflammatory, or neoplastic disorders. Gouty arthritis, unlike other forms of chronic inflammatory arthritis, is not usually associated with amyloidosis. A 70.year.old man was admitted because of generalized edema, anorexia, and diarrhea. He had been diagnosed with gouty arthritis 12 years earlier and took over-the-counter medication during acute attacks. The physical examination revealed multiple tophi on his ears, right hand, and right foot. No evidence of amyloidosis involving the heart or bone marrow was detected. Biopsy of the antrum, duodenum, ileum, and descending colon showed green birefringence with Congo red stain. Immunohistochemistry was strongly positive for amyloid A. We diagnosed him as having secondary gastrointestinal amyloidosis AA with chronic tophaceous gouty arthritis. Allopurinol was administered and oral rednisolone was increased. However, he died from septic shock 25 days after admission.

Cementless Bipolar Endoprosthesis / 대한정형외과학회잡지

The bipolar endoprosthesis was first reported by Giliberty, as well as Bateman in 1974. There were several reports indicating less acetabular erosion in bipolar endoprosthesis than in unipolar, Even if there was a problem of dislocation and valgus position of cup of initial design, the prosthesis of nowadays is useful in failed total hips with erosion of the acetabulum as well as hip with normal acetabular cartilage. The authors reviewed and analysed 44 cases of cementless bipolar endoprosthesis (Self Centering Universal Hip replacement utilizing the Tri-Lock total hip femoral stem), operated at the department of orthopaedic surgery, Hanyang University Hospital from June 1984 to May 1987. The following results were obtained. 1. There were 18 males and 25 females. 2. 22 cases were idiopathic avascular necrosis with relatively good acetabulum, 21 cases of fracture of femoral neck and 1 case of metastatic adenocarcinoma. 3. Average operation time eas 1 hour and 10 minutes and average amount of transfusion; 650cc. 4. We used 42 Watson-Jones approach and 2 Charnley's. 5. The common size of metal cup was 45–53mm in men and 43–47mm in women. 6. The size of prosthetic femoral head was equal to normal head in 16 cases, larger than normal in 14 cases, smaller than normal in 14 cases. 7. There were 2 case of intraoperative undisplaced fracture of femur and one case of heterotopic ossification. 8. There were motion of outer and inner bearing when the extremity was abducted and adducted on serial roentgenogram during a period between 2 years and 5 years. 9. Average Harris hip rating score was 38.5, preoperatively and 95.2, postoperatively.

An Experimental Study of Microvascular patency Using the Suture Techniques / 대한정형외과학회잡지

The suture techniques to anastomose successfully small vassels of 1mm in diameter were continuous suture and interrupted suture, and patency rate of them has been estabilished by orthopaedic surgeon. In 1962, Chase and Schwarz reported better results with interrupted suture than with a continuous suture, Firsching reported less time using with continuous suture than with interrupted suture, but no difference in flow rate, in 1984 Lilly reported that interrupted suture does no result in stenosis of venous end to end anastomoses by continuous suturing technique, Mao reported that there was no statically significant difference between two suture methods in patency rate. The authors have experimentally studied the patency rate and histopathological findings of two suture techniques in the 20 Newzealand white rabbit at the department of Orthopaedic Surgery, Hanyang University Hospital and can be obtained the following results. l. In arterial patency, the interrupted suture and continuous suture were 100% in rate and patency rate in veins were 95% in interrupted suture and 75% in continuous suture. 2. Subintimal hyperplasia occured earlier in arteries than in veins and it may be due to the medial component of vessel. 3. In anastomoses of small vessel the accurate apposition of cut vessels edges decreased the thrombi formation of vessel.