First report of glaucoma as a feature of the 3C syndrome.

We report the seventh case of the 3C syndrome or Cranio-Cerebello-Cardiac dysplasia. The presence of congenital glaucoma in our patient suggests that this is a previously undescribed feature of this syndrome, which is presumed to be autosomal recessive.

[The cardiac toxicity of cancer chemotherapy]. / Cardiotoxicidade da quimioterapia oncológica.

The presence of secondary effects following the administration of chemotherapeutic drugs is an important limitation to cancer therapy. Of these, cardiotoxicity is of crucial importance due to its negative influence on survival. The anthracyclines and cyclophosphamide are the most important cardiotoxic antineoplastic agents currently used. If we agree on a ceiling dosage of chemotherapy we will deprive some patients with a highly functional cardiac reserve of a potential benefit in the control of their cancer. Other patients who are more susceptible to the cardiotoxic effects of anticancer agents will suffer from severe cardiac disfunction following small cumulative doses of anthracyclines. The authors discuss the main cardiotoxic effects of several antineoplastic drugs with special attention given to the anthracycline group. Several diagnostic methods potentially useful in cardiac monitoring are described. Radionuclide angiocardiography is considered the gold-standard in monitoring anthracycline cardiotoxicity. Other invasive methods like endomyocardial biopsy and right heart catheterization can be clinically useful when nuclear angiocardiography is inconclusive. The authors propose an approach to the prevention of anthracycline cardiotoxicity. Other chemotherapeutic agents like cyclophosphamide are associated with the presence of myopericarditis which is sometimes fatal. The cardiotoxic effects of anticancer treatment with 5-fluorouracil, mitoxantrone, carmustine, amsacrine and interferon are less frequent and usually more benign. Finally we discuss bone marrow transplantation and its related cardiotoxicity.

Systemic lupus erythematosus: sex hormones in male patients.

Systemic lupus erythematosus (SLE) is a rare disease in males. There is evidence that a functional state of hypoandrogenism is important in the pathogenesis of the disease. We analysed the levels of several hormones (follicle stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T), estradiol (E2), free estradiol (FE2) and prolactin (PRL)) in 17 male SLE patients and 17 male healthy controls with similar age distribution. Three lupus patients were excluded from the analysis due to previous cyclophosphamide therapy or pre-puberty. Thus 14 male lupus patients were eligible for the study. Six of the 14 SLE patients (43%) showed at least one abnormal level of FSH, LH or T. There were no abnormalities in these hormones in the 17 controls. This difference was significant (P < 0.01). In five of these 6 male patients (36% of all lupus patients) the hormonal profile was compatible with a functional state of hypoandrogenism (high LH and/or low T). The ratio E2/T (estradiol/testosterone:pmol/nmol) was also significantly higher in the SLE group (average = 6.5; SD 4.3) when compared with that of the control group (average 4.2; SD 1.2; Mann-Whitney rank sum test: P < 0.03). There were no significant differences in E2, FE2 or PRL between lupus patients and controls. We did not confirm the notion that left-handedness is frequent in male lupus as all our patients were right-handed. We found a significantly higher prevalence of sex hormone abnormalities in male lupus patients when compared with healthy controls with a similar age distribution.(ABSTRACT TRUNCATED AT 250 WORDS)

Allergic disorders in systemic lupus erythematosus.

Allergic disorders commonly occur in patients with systemic lupus erythematosus (SLE) and allergies to some drugs may occasionally be related to disease flares. We evaluated the prevalence of several types of allergy in 132 patients with SLE and their families and compared the SLE patients with a control group of 66 patients with non-lupus disorders. Total IgE levels were tested in 117 SLE patients and 61 controls. Eighty-three of the 132 SLE patients (63%) had a history of at least one type of allergic disorder. This prevalence was significantly higher (P < 0.0001) than that of the control group (20 of 66 controls). The prevalence of drug allergy (38% vs. 17%; P < 0.005), skin allergy (36% vs. 17%; P < 0.01) and insect allergy (14% vs. 2%; P < 0.02) were significantly higher in SLE patients when compared with controls. Family members of SLE patients had an increased prevalence of at least one type of allergy (55% vs. 24%; P < 0.0001), allergic rhinitis (30% vs. 14%; P < 0.02), asthma (25% vs. 9% P < 0.02), and both rhinitis or asthma (44% vs. 20%; P < or = 0.002). The presence of allergy both in the patient and in the family was more frequent in SLE patients than controls (42% vs. 15%; P < 0.001). We found no differences in total IgE levels between the two groups. Drug, skin and insect allergies were particularly frequent in SLE patients. We also found a high prevalence of rhinitis and asthma in their families.

[Pulmonary embolism--mortality risk]. / Embolia pulmonar--risco de mortalidade.

We conducted a retrospective analysis on 311 patients with clinical diagnosis of pulmonary embolism (PE) in a period of 3 years. 163 patients were excluded based on clinical-laboratorial criteria. The remaining 146 patients had a median age of 69 years (range: 30-91 years). 54% of the patients were male. We found dyspnea (94%), abnormal cardiopulmonary observation (89%), risk factors for venous thromboembolism (74%), tachycardia (53%), cyanosis (49%), and neck vein distension (45%) to be the most frequent findings. 64% of the patients had heart failure, 32% had myocardial ischemia, 13% had cancer, and 11% had myocardial infarction. Lactic dehydrogenase (LDH) was higher than two-fold in 54% of the patients. There was severe hypoxemia in 55% of the cases and hypocapnia in 43% of the cases. Creatinine phosphokinase (CPK) was elevated in 16% of the cases. Electrocardiography was suggestive of PE in 37% of the cases. Echocardiography showed right heart dysfunction in 30% of the cases, 92% of the patients were treated with heparin, 37 patients (25%) died, 54% of which during the first 4 days after admittance. Trying to define an index of mortality in PE we evaluated all patients by discriminant analysis coming up with 14 items with good discriminative power. By approximation of their odds-ratios we determined how many points would correspond to each item in the total sum.(ABSTRACT TRUNCATED AT 250 WORDS)

[Neoplastic hypercoagulability. Apropos of 2 cases with Trousseau syndrome]. / Hipercoagulabilidade neoplásica. A propósito de dois casos com Síndroma de Trousseau.

The authors describe two cases with venous thromboembolism and neoplasia (ovary and stomach), which also showed evidence of arterial thromboembolic phenomena--cerebrovascular disease in the 1st case and acute myocardial infarction in the 2nd case--favouring the existence of nonbacterial thrombotic endocarditis. This presentation of neoplastic hypercoagulability is frequently underrated in clinical practice. Pathogenesis, clinical manifestations, etiology, and therapeutics of these syndromes are discussed in relation to the presented cases.

[Pulmonary embolism: a diagnostic approach]. / Embolia pulmonar: uma abordagem diagnóstica.

The diagnosis of pulmonary embolism (PE) has always been a major challenge to hospital practice. As a consequence of the significant failure in diagnosis using clinical criteria alone, more advanced methods like lung scintigraphy and angiography--although unavailable at many clinical centres--have definitely improved the diagnosis efficiency in PE. The author briefly reviews the utility of clinical, analytical, electrocardiographic, radiologic, echocardiographic and phlebographic approaches to PE diagnosis. Emphasizing the risks of empiric anticoagulation, the necessity of precise diagnosis using lung scan and arteriography is discussed. The use of two alternative algorithmic approaches is suggested as a guide for diagnosis of PE, depending on the availability of sophisticated diagnostic methods in medical units. In a final overview, the author reviews some of the new methods used in the diagnosis of PE, already established as clinically useful or in ways of becoming so.