[Aphallia associated to urethrorectal fistula: a case report]. / Afalia asociada a fístula recto-uretral: reporte de un caso.

Aphallia had an incidence of 1/30.000.000 newborn. This is a rare genitourinary anomaly derived from a faulty development of the genital tubercles. It usually coexists with series of other anomalies which are incompatible with normal life. This article presents a description of a 2 years old patient.

Ring chromosome instability evaluation in six patients with autosomal rings.

Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyuridine incorporation. Although most cells from all patients showed only one monocentric ring chromosome, ring chromosome loss and secondary aberrations were observed both in 48- and 72-h lymphocyte cultures and in metaphase cells of the different cell generations. We found no clear-cut correlation between ring size and ring instability; we also did not find differences between apparently complete rings and rings with genetic material loss. The cytogenetic findings revealed secondary aberrations in all ring chromosome patients. We concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype.

Effect of propranolol, barbiturate anesthesia and splenectomy on factor VIII:C and plasminogen activator release induced by DDAVP. An experimental study on the dog.

After the injection of DDAVP in 39 non-anaesthetized dogs (0.4 micrograms/kg) factor VIII:C activity rose to 145% of baseline values (p less than 0.0001) and the fibrinolytic potential of euglobulin precipitate rose to 196% (p less than 0.0001). The injection of DDAVP was repeated three times in each dog of a group of good responder animals at weekly intervals, but after: A) Pentobarbital anesthesia (30 mg/kg)--the increase of factor VIII:C was reduced from 164% to 116% (n = 11; p less than 0.0005) and the increase in fibrinolytic activity was reduced from 270% to 192% (n = 11; p less than 0.05). B) Injection of propranolol (1 mg/kg)--the increase of factor VIII:C was reduced from 167% to 110% (n = 13; p less than 0.0005) and there was no significant decrease of fibrinolytic activity (n = 13; n.s.) C) Splenectomy--the increase of factor VIII:C was reduced from 166% to 122% (n = 10; p less than 0.0005) and fibrinolytic activity was not significantly changed from 196% to 256% (n = 9; n.s.). There were no statistically significant differences in the increases of factor VIII:C and fibrinolytic potential of euglobulin precipitate after repeating only the injection of DDAVP three times in the same animal at weekly intervals (n = 5; n.s.). We conclude that the increases in factor VIII:C and fibrinolytic activities observed after DDAVP infusion in the dog are due to different mechanisms of action.(ABSTRACT TRUNCATED AT 250 WORDS)

Bilateral retinoblastoma associated with 13q-mosaicism. Possible manifestation of a germinal mutation.

Fifteen retinoblastoma patients were studied cytogenetically using G- and R-banding techniques. One patient showed 13q-mosaicism. It is suggested that a postzygotic deficiency in mosaic cases and in tumoral cells may be secondary to germinal mutation.

Sister chromatid exchange frequency in a retinoblastoma mosaic patient with del(13).

The frequencies of sister chromatid exchange (SCE) were investigated in different cell populations derived from a patient with retinoblastoma and 46,XY/46,XY,del(13) (q12.3q21.2) mosaicism. No differences in spontaneous or mitomycin C-induced SCE were detected between cell populations.

Local plasminogen activator and prostacyclin-like activity after partial venous occlusion--an experimental study in the dog.

After 90 min. of partial venous occlusion (40%) in dog's femoral vein plasminogen activator (t-PA) was decreased in the pre-occlusion segment and maintained in the post-occlusion segment. Prostacyclin-like activity (PLA) was maintained in the pre-, but increased in the post-occlusion segment. Treatment with heparin (loading dose-70/kg; IV perfusion-1 U/kg/min) did not affect pre-treatment pattern of t-PA or PLA in either segments. Treatment with aspirin (IV perfusion-2 mg/kg/min) promoted profound depression of PLA in both segments while t-PA remained unchanged. Treatment with lidocain (loading dose-1.5 mg/kg; IV perfusion 0.2 mg/kg/min) did not affect either PLA or t-PA in the pre-occlusion segment, but a decrease of these two activities was observed in the post-occlusion segment. We conclude that, since thrombin, prostaglandins and white blood cells were not responsible for all changes observed at t-PA and PLA vessel wall levels, it is justified, to evaluate the role of rheological factors as the probable determinant of these changes.

Immunological features in different clinical forms of strongyloidiasis.

Serum immunoglobulin levels, skin test response to PPD, lymphocyte surface markers and eosinophil count in peripheral blood were studied in 35 patients with strongyloidiasis diagnosed by stool examination. The patients were divided into three groups based on clinical history, physical examination and laboratory examination: an asymptomatic group (14 patients), a symptomatic group (14 patients) and a group with severe parasitic infection (seven patients). In three of the seven patients with severe strongyloidiasis, massive infection caused by Strongyloides stercoralis had been diagnosed at least once before this study. The IgG levels were significantly lower (p less than 0.05) in patients with severe strongyloidiasis (1180 +/- 529 mg/dl) than in the asymptomatic group (2347 +/- 1224). IgA and IgM levels were also lower in the patients with massive infection when compared to the asymptomatic and symptomatic groups. No decrease of T cells or B cells was found in patients with severe strongyloidiasis. However, the eosinophil count was significantly lower in patients with severe strongyloidiasis than in asymptomatic or symptomatic patients (p less than 0.05). The authors suggest that eosinophils and antibodies may play an important role in the defence mechanism against S. stercoralis larvae.

Association of reactive nitrogen species metabolites, myeloperoxidase, and airway inflammation in lung transplants.

BACKGROUND: We have previously reported that patients who had single or double lung transplants had higher concentrations than controls of nitrite and nitrate, which are metabolites of reactive nitrogen species (RNS), in bronchoalveolar lavage fluid (BALF) and serum. METHODS: This study investigates implications of RNS metabolites as markers of airway inflammation in a distinct group of lung transplant patients (n = 40). All patients underwent spirometry, routine surveillance transbronchial lung biopsies, and bronchoalveolar lavage as required by clinical protocol. Four normal controls also had bronchoscopy for measurement of BALF nitrite (NO2-) and nitrate (NO3-). BALF NO2- and NO3-, myeloperoxidase (MPO), protein, and urea were assayed. Total nitrite (NO2- plus enzymatically reduced NO3-) and urea were measured in serum. RESULTS: BALF RNS metabolites were mainly NO3-. Forced expiratory volume in 1 s (FEV1) obtained near bronchoscopy was compared with best postoperative FEV1. Total nitrite in transplant patients' BALF and serum were 3.8 +/- 0.2 and 49 +/- 5 microM, respectively. Total nitrite in controls' BALF and serum were 2.2 +/- 0.7 and 19 +/- 2 microM, respectively (P < 0.05 compared with transplant values). Serum total nitrite correlated (Pearson product moment) with percentage of neutrophils in BALF (R = 0.650, P < 0.0001), MPO (R = 0.431, P = 0.0055), change in FEV1 from baseline (deltaFEV1) (R = -0348, P = 0.0298), and days after transplantation (R = 0.345, P = 0.0294). None of the associated variables, airway inflanmmation (quantified as a score, "B"), deltaFEV1, serum, or BALF total nitrite, were explained by infection. Univariate analysis of airway inflammation in patients showed that it was associated with BALF neutrophils, deltaFEV1, and serum total nitrite. CONCLUSIONS: Serum nitrite appears to reflect the degree of airway inflammation in this lung-transplant study group.

TRAP-silver staining, a highly sensitive assay for measuring telomerase activity in tumor tissue and cell lines.

Measurement of telomerase activity in clinically obtained tumor samples may provide important information for use as both a diagnostic marker and a prognostic indicator for patient outcome. In order to evaluate telomerase activity in tumor tissue without radiolabeling the product, we developed a simple telomeric repeat amplification protocol-silver-staining assay that is less time-consuming, is safe and requires minimal equipment. In addition, we determined the sensitivity of the silver-staining method by using extracts of telomerase-positive thyroid carcinoma cell lines which were serially diluted from 5,000 to 10 cells. Telomerase activity was also assayed in 19 thyroid tumors, 2 normal controls and 27 bone marrow aspirates. The results indicate that the technique permits the detection of telomerase activity from 5000 to as few as 10 cells. We propose that it could be immediately applicable in many laboratories due to the minimal amount of equipment required.

Hyperstomy Syndrome-a new approach for the treatment of lymphedema of the lower legs.

To improve the results after surgical treatment of the lower legs' lymphedema, a new approach was developed by surgical ligation of the abnormal arteriolovenular shuntings. (Hyperstomy Syndrome). These findings are very common in congenital and postphlebitic lymphedemas. The abnormal branchings are easily localized by serial arteriography. The excision techniques like the Charles' operation, presents after this new method much better esthetic appearance with out formation of hyperkeratosis of verrucous warts commonly found after these operations.

[Auricular chromoblastomycosis. A case report]. / Cromoblastomicose auricular. Relato de um caso.

It is presented a case of auricular chromoblastomycosis mimicking an eczematous lesions. The authors refer the rarity of this localization. All reported cases of auricular chromoblastomycosis have been caused by Fonsecaea pedrosoi but in the present case the etiologic agent was Phialophora verrucosa.

[Myocardial revascularization in angina pectoris. Study Group on Angina Pectoris of the Ischemic Cardiopathy and Coronary Units Section of the Spanish Society of Cardiology]. / Revascularización miocárdica en la angina de pecho. Grupo de Estudio de Angina de Pecho de la Sección de Cardiopatía Isquémica y Unidades Coronarias de la Sociedad Española de Cardiología.

Ischemic pain relief and survival are the targets of the revascularization treatment in angina pectoris. The authors describe the clinical and anatomic indications for revascularization in angina and the reasons for the election between surgery and percutaneous transluminal coronary angioplasty.

[Mortality in breast-fed infants with persistent diarrhea: risk factors associated with death]. / Letalidade em lactentes com diarréia persistente: fatores de risco associados ao óbito.

OBJECTS: Persistent diarrhea is a frequent disease in developing countries. In this research, we studied 21 patients that passed away among 189 that were hospitalized with persistent diarrhea at the "Hospital Italo Brasileiro Umberto I Foundation", from January of 1985 until December of 1992. PATIENTS AND METHODS: The patients were distributed into two groups: survival and dead, in accord of the clinical evolution at the end of the internment. The analyzed parameters were: birth weight, sex, age, provenance, diarrhea period before the admission, nutritional status, hydration status, coprologic results, occurrence of food intolerance, internment period and the age of ending breast-feeding. RESULTS: The parameters that showed significantly association with the death were: age, with relative risk = 3 for children with age below 6 months old; provenance, with relative risk = 3.4 for patients who were arrived from other hospitals; third grade dehydration at the admission (relative risk = 2.9); enteropathogenic Escherichia coli (EPEC) isolated in feces (relative risk = 3.3), and use of total parenteral nutrition. The etiologic research was positive in 57.1% of the cases. The enteropathogen more frequently isolated in dead group, was EPEC (42.9%), followed by Shigella (9.5%) and Salmonella (5.9%). From the isolated EPEC (35/189), 26 (74.3%) were belonged to the OIII sorogroup (6/26). From these children, 23.1% died. From the 35 patients with EPEC isolated in feces, 25 were below 6 months old, and from these one, eight died. The relative risk to die for lactents with less than 6 months old and EPEC in feces was equal 3.2. Sepsis was considered the most important cause of death for hospitalized lactents with persistent diarrhea.

[Myocarditis caused by Toxoplasma gondii in a man with acquired immunodeficiency syndrome]. / Miocardite por toxoplasma gondii em homem com síndrome de imunodeficiência adquirida.

Male, 26-years old, with acquired immunodeficiency syndrome which was admitted in the hospital with focal neurologic disturbance, developed myocardial failure and echocardiographic pattern of ventricular dysfunction. Sudden death occurred 18 days after admission and the post mortem microscopic studies showed degenerative abnormalities of cardiac muscular fibers, focal lymphocytic and histiocytic infiltrate and the presence of T. gondii.

[Lethality in hospitalized infants with acute diarrhea: risk factors associated with death]. / Letalidade em crianças hospitalizadas com diarréia aguda--fatores de risco associados ao óbito.

OBJECTIVES: Acute diarrhea is a very frequent disease in developing countries and is the first cause of death in infants under 2 years of age. This study was designed to evaluate the clinical and epidemiological factors associated to the death of 17 out of 511 infants hospitalized owing to severe acute diarrhea, between January 1989 and December 1995. PATIENTS AND METHODS: The patients were divided into two groups according to their clinical evolution: Group I--Death and Group II--Survival. The following parameters were evaluated: birth weight, sex, age, duration of diarrhea (days) prior to admission, nutritional status, hydration, presence of an enteropathogenic agent in the stools, food intolerance and duration of hospitalization. RESULTS: The analyzed factors have shown a significant association with death for the following variables: age, relative risk (RR) = 4.0 for infants less than 6 months of age, identification of an enteropathogenic Escherichia coli (EPEC) strain in the stools (RR = 3.3), severe malnutrition at admission to the hospital (RR = 4.5), Occurrence of food intolerance during hospitalization (RR = 2.7). Some enteropathogenic agent was identified in the stools of 253 (54.9%) infants, among the 461 (90.2%) studied. Group I revealed the presence of an enteropathogenic agent in 75% of the cases. The most frequent agents identified in Group I was: EPEC (56.3%) and Shigella (12.5%), while in Group II EPEC was identified in 26.5% of the patients. CONCLUSIONS: The association of some factors such as age less than 6 months, severe malnutrition, food intolerance and the identification of EPEC strains in the stool culture are indicators of high risk of death in infants hospitalized due to severe acute diarrhea.

Serum uric acid and disorders of glucose metabolism: the role of glycosuria.

Hyperuricemia has been associated with hypertension, diabetes mellitus, and metabolic syndrome. We studied the association between hyperuricemia and glycemic status in a nonrandomized sample of primary care patients. This was a cross-sectional study of adults ≥ 20 years old who were members of a community-based health care program. Hyperuricemia was defined as a value >7.0 mg/dL for men and >6.0 mg/dL for women. The sample comprised 720 participants including controls (n=257) and patients who were hypertensive and euglycemic (n=118), prediabetic (n=222), or diabetic (n=123). The mean age was 42.4 ± 12.5 years, 45% were male, and 30% were white. The prevalence of hyperuricemia increased from controls (3.9%) to euglycemic hypertension (7.6%) and prediabetic state (14.0%), with values in prediabetic patients being statistically different from controls. Overall, diabetic patients had an 11.4% prevalence of hyperuricemia, which was also statistically different from controls. Of note, diabetic subjects with glycosuria, who represented 24% of the diabetic participants, had a null prevalence of hyperuricemia, and statistically higher values for fractional excretion of uric acid, Na excretion index, and prevalence of microalbuminuria than those without glycosuria. Participants who were prediabetic or diabetic but without glycosuria had a similarly elevated prevalence of hyperuricemia. In contrast, diabetic patients with glycosuria had a null prevalence of hyperuricemia and excreted more uric acid and Na than diabetic subjects without glycosuria. The findings can be explained by enhanced proximal tubule reabsorption early in the course of dysglycemia that decreases with the ensuing glycosuria at the late stage of the disorder.

Spin-spin indirect interaction at low-energy excitation in zero-dimensional cavities.

We solve the low-energy part of the spectrum of a model that describes a circularly polarized cavity mode strongly coupled to two exciton modes, each of which is coupled to a localized spin of arbitrary magnitude. In the regime in which the excitons and the cavity modes are strongly coupled, forming polaritons, the low-energy part of the spectrum can be described by an effective spin model, which contains a magnetic field, an axial anisotropy, and an Ising interaction between the localized spins. For detunings such that the low-energy states are dominated by nearly degenerate excitonic modes, the description of the low-energy states by a simple effective Hamiltonian ceases to be valid and the effective interaction tends to vanish. Finally, we discuss a possible application to two-qubit quantum computing operations in a system of transition-metal impurities embedded in quantum dots inside a micropillar.