Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors.

Activating mutations of the G protein genes have been associated with the development of several endocrine neoplasms. Such activating mutations, gip2, affecting the alpha-subunit of the G alpha i2 protein were previously described by a single group in 30% of ovarian sex cord stromal tumors. Other activating mutations of the alpha-subunit of the Gs (gsp) have been identified in GH-secreting and nonfunctioning pituitary tumors, autonomous thyroid adenomas, and all affected McCune-Albright tissues, but not in sex cord stromal tumors.

Central diabetes insipidus as a complication of neonatal pathology: report of three cases.

Three patients, 11, 17 and 41 days old with various degrees of central nervous system (CNS) lesions developed central diabetes insipidus as a complication of hypothalamic damage. Two of the children had congenital CNS malformations including meningomyelocele, hydrocephalus, and prosencephaly, while the third child presented Streptococcus agalactiae meningitis, complicated with CNS hemorrhage and hypertensive dilatation of the lateral ventricles. All of them fulfilled the criteria for central diabetes insipidus, reaching high levels of serum sodium and osmolality, along with hypotonic urine.

The use of biochemical markers in the diagnosis of pelvic endometriosis.

The aim of this study was to evaluate CA 125 II, C-reactive protein (CRP) and serum amyloid A (SAA) and anticardiolipin antibody (aCL) concentrations for the diagnosis of pelvic endometriosis. The study population consisted of 15 women without endometriosis, as confirmed by laparoscopy (group A), and 35 patients with pelvic endometriosis diagnosed by laparoscopy or laparotomy (group B). Group B patients were divided into those at stages I and II of the disease (BI/II) and those at stages III and IV (BIII/IV).

Chronic salt overload increases blood pressure and improves glucose metabolism without changing insulin sensitivity.

The effect of sodium chloride salt restriction and overload on insulin sensitivity is still an open question. Some authors have shown that NaCl salt restriction increases insulin resistance, whereas others have reported the opposite. In the present study, the objective was to get some more insight on this issue by studying the influence of dietary salt content on glucose uptake in isolated adipocytes.

Association of an increase in CD8+ T cells with the presence of Trypanosoma cruzi antigens in chronic, human, chagasic myocarditis.

The role of Trypanosoma cruzi in the pathogenesis of myocarditis in the chronic phase of Chagas' disease is still controversial, with autoimmune mechanisms frequently being proposed. In the present work, we demonstrate that higher numbers of CD8+ T cells are correlated with the presence of parasite antigens, suggesting an important role for the parasite in the development of myocardial inflammation. Quantification of the mean numbers of CD8+ and CD4+ T cells per 400x microscopic field was performed in myocardial specimens from 33 chronic chagasic patients with heart failures (nine biopsies and 24 necropsies), using an immunoperoxidase technique.

An in situ quantitative immunohistochemical study of cytokines and IL-2R+ in chronic human chagasic myocarditis: correlation with the presence of myocardial Trypanosoma cruzi antigens.

Inflammatory cells positive for the cytokines IL-2, IL-4, IL-6, TNF-alpha, and IFN-gamma and for IL-2R, as well as CD8+ and CD4+ T cells and B cells were quantified using an immunoperoxidase technique in 25 fresh myocardial fragments from patients presenting with chronic chagasic cardiomyopathy. The presence of Trypanosoma cruzi antigens (Ags) in the myocardium was also investigated. The cases were grouped into group A (no Ag), group B (scarce extramyocardial fiber Ags), and group C (intramyocardial pseudocysts and extramyocardial fiber Ags).

An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female.

Hypergonadotropic hypogonadism is characterized by decreased gonadal function due to the inability of the gonads to respond to pituitary gonadotropins. Hypergonadotropic hypogonadism in females has many causes, among which are ovarian dysgenesis and abnormalities of the ovarian receptors for the pituitary gonadotropins. We evaluated a woman who presented with amenorrhea due to hypergonadotropic hypogonadism, but who had structurally normal ovaries.

Fetal idiopathic ventricular tachycardia with nonimmune hydrops: benign course.

A case of idiopathic ventricular tachycardia of left ventricular origin in a hydropic fetus is presented. The accuracy of fetal echocardiography for diagnosing this type of arrhythmia is emphasized, as is its importance in determining appropriate postnatal treatment which in this case resulted in an unusually benign course.

Gallbladder emptying in normal volunteers. Comparative study between cholescintigraphy and ultrasonography.

To assess the reproducibility of and compare the patterns of gallbladder emptying after a fatty meal stimulus, the authors analyzed 10 healthy fasting volunteers (8 men; mean age, 32 years). Cholescintigraphy was obtained after intravenous injection of 185 MBq of Tc-99m DISIDA. A standardized fatty meal was provided 70 minutes after injection.

Echocardiographic diagnosis of fetal Marfan syndrome at 34 weeks' gestation.

Fetal echocardiography was performed during the third trimester in a normal primigravida. The fetal heart was severely affected with the typical cardiac manifestations of Marfan syndrome. The medical history of the father was investigated and a mild form of the syndrome was diagnosed.

Immunohistochemistry of medullary thyroid carcinoma and C-cell hyperplasia by an affinity-purified anti-human calcitonin antiserum.

Background: The diagnosis of medullary thyroid carcinoma (MTC) depends on the calcitonin immunohistochemistry. Familial MTC is associated with C-cell hyperplasia (CCH), whereas sporadic MTC is not. A specific and sensitive calcitonin immunohistochemistry is necessary for the diagnosis of MTC and CCH.

Brain metastasis of a malignant fibrous histiocytoma of the lung.

Sarcomas metastatic to the brain as well as primary malignant fibrous histiocytomas of the lung are very unusual tumors. The authors report a case of a 52-year-old man who presented with neurological symptoms due to cerebral metastasis of a malignant fibrous histiocytoma of the lung and provide a review of the literature on the subject.

Percutaneous catheterization of the subclavian vein in hemophiliac patients: report of 47 cases.

Hemophiliac patients frequently require venous access, but usually their peripheral veins are collapsed and not puncturable. Several procedures employed to overcome this difficulty present a high complication rate. The authors report 47 cases of percutaneous subclavian vein catheterization (PSC) in hemophiliacs with an overall complication rate of 23%.

Preoxygenation in children: for how long?

Although preoxygenation has been extensively studied, to our knowledge this is the first study addressing its optimal length in children, who form a high risk group for developing hypoxaemia during induction of anaesthesia. Recommended preoxygenation times in children range between 1 and 4 min, but whether one of these times maintains arterial oxygen saturation (Sao2) at an adequate level for a longer time period is unknown. This study was performed on 11 healthy children, randomly distributed into either Group 1 (1 min of preoxygenation, n = 6) or Group 2 (3 min of preoxygenation, n = 5).

Secondary bilateral synchrony associated to a parasagittal tumor. Case report.

A 32 years old woman who had postural limbic and primarily generalized tonic-clonic seizures since the age of 11 presented to us with a CT image strongly suggestive of a mesial meningioma near the right cingulum. Her ictal EEG pattern was characterized by regular 1.5-2.

Quantification of ocular inflammation with technetium-99m glucoheptonate.

Histological and morphometric evaluation of ocular inflammation is difficult, particularly when there is extensive ocular involvement with abscess formation and necrosis. A quantitative imaging procedure applicable to humans would be important clinically. To establish such a procedure, turpentine-induced ocular inflammation was obtained by subconjunctival injection in the right eye of 55 rabbits.

Pulmonary clearance of technetium 99m diethylene triamine penta-acetic acid aerosol in patients with amiodarone pneumonitis.

Amiodarone pneumonitis is a serious complication that may lead to fatal lung fibrosis. In an attempt to diagnose this condition as early as possible, the technetium-99m-labelled diethylene triamine penta-acetic acid (99mTc-DTPA) aerosol washout rates of 10 non-smoking normal volunteers (group 1), 10 non-smoking patients on a long-term amiodarone regimen with dilated cardiomyopathy but no congestive heart failure (group II) and 10 patients with amiodarone pneumonitis (group III) were compared. Spirometric measurements, as percentage predicted, were higher in group I than in group III (P less than 0.

Extraneural metastasis of a brainstem astrocytoma in a child: clinicopathological report.

Extraneural metastases of brainstem gliomas are exceedingly rare. Only four such cases are reported in the literature. We report on a case of a 3-year-old girl with an anaplastic astrocytoma of the brainstem which metastasized to the cervical lymph nodes.

The efficacy of loop colostomy for complete fecal diversion.

In an attempt to evaluate the real efficacy of loop colostomy for fecal diversion, the authors studied 62 patients previously colostomized under emergency conditions. Radiologic series of the abdomen were taken after 200 gm of barium meal. The results showed that the colostomy provided complete diversion of the radiologic contrast in 53 patients (85 percent) and incomplete diversion in nine patients (15 percent).

Gallium-67 imaging in the diagnosis of blastomycosis.

67Ga imaging was used in a group of 13 untreated patients with documented South American blastomycosis in an attempt to obtain additional information on the site and extent of the lesions. All diagnoses were confirmed by demonstration of the fungi in the lesions or body fluids. Serologic tests were performed on all patients.