Congenital lipoid adrenal hyperplasia is the most severe form of CAH, leading to impaired production of all steroid hormones including glucocorticoids, mineralocorticoid, and sex steroids. The affected individuals are all phenotypically female with a severe salt-losing syndrome that is fatal if steroid replacement is not begun immediately after birth. The lesion of this disorder has been suggested to be in the first step of steroidogenesis of conversion of cholesterol to pregnenolone by P450scc. Recently, molecular defect of this disease has been located in the transport of cholesterol into mitochondria due to defective regulatory protein called 'steroidogenic acute regulatory protein' while the enzyme P450scc itself is normal, differing from other types of congenital adrenal hyperplasia. We experienced 2 1/2 month old phenotypical girl who was admitted due to lethargic state and persistent vomiting with severe hyperkemia and hyponatremia. Blood levels of cortisol, aldosteron, and 17-OH progesteron were low and levels of ACTH, angiotensin, and plasma renin activity were high, urinary levels of 17-KS and 17-OHCH were low. The patient was found to have karyotype of 46, XY and has been being treated with predinisolone, fluorocortisol and sodium supplement in diet and doing well. The molecular study for P450scc gene and StAR gene of patient and family is in progress.
Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Angiotensins ; Cholesterol ; Diet ; Female ; Glucocorticoids ; Humans ; Hydrocortisone ; Hyperplasia* ; Hyponatremia ; Karyotype ; Mitochondria ; Parturition ; Plasma ; Pregnenolone ; Renin ; Sodium ; Steroids ; Vomiting

PURPOSE: Thyroid disease is the most common endocrine disease in childhood. Thyroid hormone has critical effects on growth and development, especially in childhood. We survey the prevalence, sex and age distribution, symptoms and thyroid function states of thyroid diseases in childhood. METHODS: Three hundred ninety one children who were diagnosed as having thyroid disease at department of pediatrics, St. Mary's hospital from Jan. 1987 to Dec. 1998 enrolled in this study. RESULTS: 1) The ratio between male and female patients was 1: 5.3. Age distribution was puberty, school age and infancy in their order of frequency. 2) The results of thyroid function tests showed normal function in 210 cases (53.7%), increased function in 95 cases(24.3%), and decreased function in 86 cases (22%). 3) Simple goiter, Graves disease, and chronic lymphocytic thyroiditis were the most common diseases in euthyroid, hyperthyroid, and acquired hypothyroid state, respectively. 4) The most common sign and symptom was goiter in euthyroid(100%), hyperthyroid(98.8%) and acquired hypothyroid state(96.2%). Forty of 68 cases(58.8%) with congenital hypothyroidism were detected by neonatal screening. CONCLUSION: Simple goiter, chronic lymphocytic thyroiditis and Graves disease were common acquired thyroid diseases in childhood, and goiter is the most common clinical manifestation in acquired thyroid disease. Recently, increasing number of congenital hypothyroidism was detected by neonatal screening test.
Adolescent ; Age Distribution ; Child ; Congenital Hypothyroidism ; Endocrine System Diseases ; Female ; Goiter ; Graves Disease ; Growth and Development ; Hashimoto Disease ; Humans ; Infant, Newborn ; Male ; Neonatal Screening ; Pediatrics ; Prevalence ; Puberty ; Thyroid Diseases* ; Thyroid Function Tests ; Thyroid Gland*

Minoxidil is a potent direct-acting peripheral vasodilator indicated in the management of severe or refractory hypertension. Well-known adverse effects include reflex tachycardia, fluid retention and hypertrichosis. This drug has also been reported to cause pericardial effusion in about three percent of nondialyzed patients with compromised renal function and to cause cardiac tamponade less frequently. Many studies have reported that the mean duration of therapy that caused pericardial effusion was about 8 months (range 1 month-53 months). We report a case of cardiac tamponade in nondialyzed patient with chronic renal failure receiving minoxidil for 10 years. A 58-year-old female was admitted to our hospital with dyspnea of NYHA III. She was a chronic renal failure patient without dialysis treatment and received kidney transplantation from cadaver donor and was dignosed chronic rejection in 1994. Minoxidil 10mg has been used for past 10 years. Lasix has been used for past 2 years, with dosage of 40mg to 240mg. On admission, blood pressure was 90/60mm Hg. Cardiomegaly was seen on chest radiograph. The two-dimensional echocardiogram showed a large amount of pericardial effusion. Emergency treatment with pericardiocentesis removed 2500ml of straw- colored pericardial fluid and resulted in marked improvement of dyspnea and stabilized blood pressure. The minoxidil was discontinued. The evidence of pericardial effusion was not seen for 12 months after minoxidil had been discontinued.
Blood Pressure ; Cadaver ; Cardiac Tamponade* ; Cardiomegaly ; Dialysis ; Dyspnea ; Emergency Treatment ; Female ; Furosemide ; Humans ; Hypertension ; Hypertrichosis ; Kidney Failure, Chronic* ; Kidney Transplantation ; Middle Aged ; Minoxidil* ; Pericardial Effusion ; Pericardiocentesis ; Radiography, Thoracic ; Reflex ; Tachycardia ; Tissue Donors

OBJECTIVES: Recent studies have reported a correlation between obstructive sleep apnea syndrome (OSA) and depression. In attempt to verify the suggestion that eveningness is related to depression, we examined the effect of morningness-eveningness on their depressive mood in patinets with OSA. METHODS: The examination was based on the medical records and polysomnography reports of 211 OSA patients. Information was gathered from the patients who filled out the Horne and Ostberg questionnaire (HOQ), profile of mood states-Korean version (K-POMS), and Epworth sleepiness scale (ESS). We compared mean values of K-POMS total, subscales of K-POMS, ESS, and OSA severity variables among the 3 morningness-eveningness groups (morningness, eveningness, and neither groups). Partial correlation analysis was performed between variables and ANCOVA was performed among the 3 groups after adjustment with age and weight. RESULTS: There were significant negative correlations between HOQ and the followings : K-POMS total, POMS-T (tension-anxiety), POMS-D (depression-dejection), POMS-A (anger-hostility), POMS-F (fatigue-inertia), POMS-C (confusion-bewilderment), spontaneous arousal index, average O2 saturation. There were significant positive correlations between HOQ and the followings : POMS-V (vigor-activity), apnea-hypopnea index, respiratory arousal index, snore time. There were significant negative correlations between POMS-D and the followings : HOQ, POMS-V, stage 1 sleep (%), AHI, TAI (total arousal index), oxygen desaturation index, respiratory arousal index, neck circumference, average O2 desaturation, snore time (%). There were significant positive correlations between POMS-D and K-POMS total, POMS-T, POMS-A, POMS-F, POMS-C, sleep latency, stage 2 sleep (%), heart rate, spontaneous arousal index. There were significant differences in K-POMS total, POMS-T, POMS-D, POMS-F, POMS-C, spontaneous arousal index among the three HOQ groups in ANCOVA. CONCLUSION: The depressive correlates of OSA patients might be affected, not by excessive daytime sleepiness or OSA severity indexes, but by eveningness circadian characteristics. It would be important to take into account the morningness-eveningness tendency when we manage the depressive mood of OSA patients.
Animals ; Arousal ; Circadian Rhythm ; Depression ; Disorders of Excessive Somnolence ; Heart Rate ; Horns ; Humans ; Medical Records ; Neck ; Oxygen ; Polysomnography ; Surveys and Questionnaires ; Sleep Apnea, Obstructive

Myocarditis is defined as the myocardial inflammation caused by various infectious agents (such as virus, rickettsia , bacteria, protozoa, fungus and parasites). The clinical manifestations of myocarditis ranges from the asymptomatic state due to focal inflammation to fulminant fatal congestive heart failure secondary to diffuse myocardial involvement. Clinically, in some cases, it may simulate an acute myocardial infarction. We experienced a case of acute fulminant myocarditis that presented as acute myocardial infarction initially, and then progressed into and recovered from congestive heart failure and multiorgan failure.
Asymptomatic Diseases ; Bacteria ; Estrogens, Conjugated (USP)* ; Fungi ; Heart Failure* ; Inflammation ; Myocardial Infarction ; Myocarditis* ; Rickettsia

The authors performed prospectively the transcranial Doppler monitoring of bilateral anterior and middle cerebral arteries in 15 patients with ruptured cerebral aneurysm. The entry criteria for the study were confined to the patients who were admitted within 3 days after bleeding and had clinical grades of I, II, or III. The mean frequency shifts of bilateral anterior and middle cerebral arteries were increased immediately after ictus and showed continous further elevation between the 3rd and 8th rupture days. After that, they normalized slowly. The increase of frequency shift preceded clinical ischemic symptoms and an early steep increase of frequency shift was correlated to a high chance for suffering delayed ischemic deficits. The thick clots in subarachnoid cisterns shown on CT scans taken within the third rupture day were correlated well to the severe increase of frequency shifts. The aggressive treatment was done on asymptomatic patients who showed relatively rapid increase of frequency shifts, and they had shown no or trasient mild ischemic symptoms.
Hemorrhage ; Humans ; Intracranial Aneurysm* ; Middle Cerebral Artery ; Prospective Studies ; Rupture ; Tomography, X-Ray Computed

Angiomyofibroblastoma of the vulva is a rare mesenchymal tumor. It has been diagnostically confused with aggressive angiomyxoma which has a somewhat different clinical course and therapy. Herein we report a case of angiomyofibroblastoma of the vulva in a 46-year-old female. Microscopically, there were alternating hypercellular and hypocelluar edematous zones in which abundant capillary blood vessels were irregularly distributed. Spindle, plump spindle, and oval stromal cells were concentrated around the blood vessels, or loosely dispersed in the hypocellular area. Immunohistochemically, the stromal cells were positive for desmin, vimentin, muscle-specific actin and weakly positive for S-100 protein. Ultrastructural studies showed well developed rough endoplasmic reticulum, abundant intermediate filaments, and pinocytic vesicles in the stromal cells.
Female ; Humans

To evaluate the incidence and clinico-pathologic correlation of benign epithelial changes of endometrium, we tried to classify the changes into squamous cell change, ciliary change, eosinophilic cell change, papillary surface epithelial change, and mucinous cell change by the criteria of Hendrickson. Based on the 450 hysterectomy specimens obtained from Jan. 1994 to Dec. 1994 in PMC, the incidence of the cell changes was as follows: squamous cell change: 1.1%, eosinophilic cell change: 6.8%, mucinous cell change: 6.6%, ciliary change: 10.4%, papillary surface epithelial change: 16.4%. Squamous cell change was noted in severe endometritis or endometrial hyperplasia and papillary surface epithelial proliferation was mainly associated with plasma cell infiltration in adenomyosis or leiomyoma. Eosinophilic change and ciliary change were sometimes concomitantly found in dilated glands of the basal layer or in the invaded glands of adenomyosis. The results of this study suggested a correlation of benign epithelial changes with endometritis, adenomyosis, leiomyoma and dysfunctional uterine bleeding.
Incidence

Percutaenous transhepatic biliary drainage (PTBD) is widely used to control cholangitis, sepsis, or jaundice caused by biliary tree obstruction. The PTBD tract can be used in percutaneous biliary stone extraction in pre-or post-operative state when ERCP is failed or operation is contraindicated. We performed 16 cases of percutaneous transhepatic biliary stone removal. Locations of biliay stones are combined intrahepatic and extrahepatic in 8 cases (50%), only extrahepati in 7 cases (44%), and only intrahepatic in 1 case (6%). The number of stones was single in 6 cases and multiple in 10 cases. Over all success rate was 81% (13/16), 93% (14/15) in extrahepatic stones and 78% (7/9) in intrahepatic stones. In 5 of 6 cases, complete stone removal was impossible due to marked tortuosity of T-tube tract or peripherally located stones, complete removal of biliary stones was achieved via a new PTBD tract. No significant pre-or post-procedure complication was occured. Percutaneous removal of biliary stones via PTBD tract is an effective and safe alternative method in difficult cases in the menagement of biliary tract stones.
Biliary Tract ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Drainage ; Jaundice ; Methods ; Sepsis

No abstract available.
Pregnancy* ; Pyelonephritis*