Cardiac involvement in metabolic diseases]

OBJECTIVE: To evaluate cardiac involvement in children with metabolic disease in the out patient clinic of the Pediatric Cardiology Unit of Maria Pia Children's Hospital and their follow-up. MATERIAL AND METHODS: Twenty-nine medical records belonging to out patients with metabolic disease in consultation at our unit were reviewed. The following data from each record was analyzed: sex, metabolic disease diagnosis, age and motive for referral to a pediatric cardiology unit, cardiology diagnosis, therapy and evolution. RESULTS: Seventeen patients were boys and 12 girls. The average age of referral was 7.2 years (SD 4.8). The motives for referral were: screening for heart disease, 16; heart murmur, 7; congestive heart failure, 3; heart murmur and fatigue, 2; poor weight gain, 1. The following metabolic diagnoses were made: lysosomal diseases, 21; mitochondrial citopathies, 5; disorder of beta-oxidation of fatty acids, 2; carbohydrate deficient glycoprotein syndrome (CDG syndrome), 1. The cardiologic evaluation was normal in ten patients (4 with lysosomal disease, 4 with mitochondrial citopathy, one disorder of beta-oxidation of fatty acids, the CDG syndrome). Mitral and aortic valve lesions predominated in lysosomal diseases (12/21); myocardial involvement alone was present in two patients, and both myocardial and valvular lesions were present in three. Dilated cardiomyopathy was the presented manifestation in two patients-one with mitochondrial citopathy and one with a disorder of beta-oxidation of fatty acids. Three patients died and 26 remain out-patients. One patient was submitted to valve surgery. The average duration of follow-up was 21 months (SD 24). COMMENTS: Lysosomal diseases were the most representative in our patients, as described in the literature. Heart valve disease was the most frequent alteration. Indication for heart valve surgery is dependent on systemic involvement of the primary disease. All children with a metabolic disease with eventual heart involvement should be evaluated periodically by a cardiology unit. On the other hand, it is mandatory to screen a cardiomyopathy of unknown cause for a metabolic disease. The authors draw attention to the importance of infectious endocarditis prophylaxis in this group of patients.     

NOD mice are resistant to depletion of thymic cells caused by acute stress or infection.

NOD mice spontaneously develop autoimmune diabetes; disease onset in females of our colony of NOD mice usually takes place around the 4th month of age. Diabetes of NOD mice can be modulated by different stress protocols, even though these animals were shown to be resistant to the effects of glucocorticoids on their lymphocytes. We have recently found that the early host inflammatory response to mycobacteria can be strongly modified by stress, the autoimmunity-prone NOD and NZB/W mice being particularly affected. These mice show reduced numbers of granulocytes in the inflammatory cavity after exposure to stress. Mycobacterium avium is an opportunistic agent that is responsible for disseminated infections seen in AIDS patients. Here, we investigated whether the early immune response to M. avium was altered by stress in NOD mice and we compared the stress response of these mice with a non-autoimmune strain, BALB/c mice. The effects of stress on infected BALB/c mice, which like AIDS patients are susceptible to M. avium infection, offers experimental evidence that M. avium infection, if coupled with stress of the host, may accelerate loss of T helper cells. In contrast, in NOD mice, stress or infection significantly increased the number of cells of the thymuses of the animals. Data obtained with NOD mice support the previously reported resistance of NOD mice lymphocytes to glucocorticoids and suggest that there are two distinct signalling pathways involved in the response of NOD lymphocytes to these stress hormones: one leading to apoptosis and the other mediating glucocorticoid inhibition of activation-induced cell death.     

Female independence in Portugal: effect on suicide rates*

The greater incidence of suicide among males could be ascribed to the distinct roles still attributed to each sex. Progress towards female independence could reduce this different incidence. We analysed the following in Portugal: male and female suicide rates; profiles; and male/female suicide ratio before (1955–1969) and after the development of a movement for women's independence (1970–85). Concomitant with progress towards female independence there is a significant rise in female suicide and a decrease in male/female suicide ratio. The highest rates are among professional/technical women living in urban areas. In professional groups there is significant correlation between deaths caused by suicide and by liver cirrhosis. It is concluded that alcoholism often leads to suicide; in women, taboos about alcoholism and suicide explain a higher incidence of suicide among culturally freer professional groups; female independence will catalyse a rise in alcoholism, which together with other factors resulting from that independence will lead to a predictable increase of suicide among Portuguese women and a reduced difference in rates of suicide between the sexes.     

Herpes simplex virus type I from a patient with radiculoneuropathy.

Herpes simplex virus type I was isolated from the CSF of a patient with atypical lumbosacral pain. The features of this case are unusual and important in light of the current understanding of herpes-simplex-virus-associated neurologic disease.     

Massive prolapse of the urethral mucosa following periurethral injection of calcium hydroxylapatite for stress urinary incontinence

The injection of bulking agents into the urethral submucosa is designed to create artificial urethral cushions that can improve urethral coaptation and hence restore continence. Ideally, a urethral bulking agent should be non-immunogenic and biocompatible, leading to minimal inflammatory and fibrotic response. The authors present a case report of a granulomatous reaction leading to urethral prolapse, 3 months after the transurethral injection of calcium hydroxylapatite. To our knowledge, this is the first granulomatous reaction described after calcium hydroxylapatite injection.     

Antibodies against neurons in chronic Chagas' disease.

Severe qualitative and quantitative alterations of the autonomic system inervating the heart and other organs have been demonstrated in experimental and natural Chagas' disease. These facts led us to search for the presence of antibody to neurons in 230 chagasic sera by an indirect immunofluorescence technique. Our results indicated that 83% of the chagasic patients presented IgG antibodies and 7% IgM antibodies to neurons. All control sera were negative. The demonstrated antibody to neurons presented cross-reaction against neurons of the central and peripheral nervous system (sympathetic and parasympathetic) and also against neurons of different species.