Cardiovascular Risk and Clinical Factors in Athletes: 10 Years of Evaluation

DE MATOS, L. D. N. J., N. D. A. O. CALDEIRA, P. D. S. PERLINGEIRO, I. L. G. DOS SANTOS, C. E. NEGRAO and L. F. AZEVEDO. Cardiovascular Risk and Clinical Factors in Athletes: 10 Years of Evaluation. Med. Sci. Sports Exerc., Vol. 43, No. 6, pp. 943-950, 2011. Purpose: Preparticipation screening in athletes is a very current but controversial theme. Part of this controversy is due to the cost benefit, especially when the screening is merely used as a prevention of sudden cardiac death caused by rare and hereditary diseases. The purpose of this study was to describe the prevalence of preexisting diseases, cardiovascular risk factor for cardiovascular diseases development, and hematological profile in a population of amateur and professional athletes. Methods: Data of 623 athletes (529 men and 94 women), aged 13-77 yr, were analyzed to detect preexisting diseases. The variables total cholesterol, LDL, HDL, triglycerides, fasting glucose, body mass index, hemoglobin, hematocrit, and ferritin were analyzed in two groups according to age, that is, younger and older 35 yr old, and their prevalence (%) and distribution in quartiles were presented. chi(2) test and Pearson product-moment correlation coefficients between variables were applied, and P < 0.05 was adopted for significance. Results: Hypertension was the most prevalent preexisting diseases, although the data showed low prevalence of cardiomyopathy. Cardiovascular risk factors were prevalent in both genders. There were positive correlations between cardiovascular risk factors and age and between body mass index and lipid levels in male athletes. Also, there was a high prevalence of low ferritin levels for women, with positive correlation between the levels of hemoglobin and ferritin. Conclusions: In the present study, hypertension was the most prevalent diagnosed disease, and cardiovascular risk factors showed important prevalence, especially in athletes older than 35 yr. Although physical training represents a cardioprotective factor to the onset of cardiovascular disease, it does not exclude the prevalence of risk factors and diseases in athletes.

Fabry Disease in Hemodialysis Patients in Southern Brazil: Prevalence Study and Clinical Report

Background. Fabry disease (FD) is a lysosomal storage disorder caused by a deficiency of -Galactosidase A (-Gal A). Fabry nephropathy typically progresses throughout the fifth decade to end-stage renal disease (ESRD), requiring hemodialysis and/or kidney transplantation. Objective. To estimate the prevalence of FD among ESRD males on hemodialysis treatment in Rio Grande do Sul, the southernmost state of Brazil. Methods. Screening for -Gal A activity was performed by a dried blood spot (normal reference value: 1.5 nmoles/hour/mL). Positive screening results were confirmed by plasma -Gal A activity assay (reference value: 3.3 nmoles/hour/mL). Results. Five hundred fifty-eight male patients on hemodialysis were evaluated. Of these, only two had low -Gal A activity and were diagnosed with Fabry disease (0.36%). One of these, age 42, had left ventricular hypertrophy and renal manifestations of Fabry disease without the classic symptoms. The other, age 46, had the classical manifestations of angiokeratomas, acroparesthesias, hypohidrosis, and ocular opacities. Conclusions. Although the prevalence of Fabry disease was very low in our study (0.36%), routine screening of male hemodialysis patients would enable earlier identification of many other affected relatives in their families who might benefit from specific clinical treatment.

Epidemiologic aspects and clinical outcome of fungal keratitis in southeastern Brazil

PURPOSE. Fungal keratitis (FK) is a sight-threatening disease, more prevalent in developing regions. The present retrospective study was conducted in order to evaluate the epidemiologic and clinical aspects and the progression of FK in patients treated at two ophthalmologic reference centers in Southeast Brazil. METHODS. The charts of patients with infectious keratitis treated between 2000 and 2004 were reviewed. For the 66 cases of FK confirmed by microbiological analysis, data related to patient, disease, and therapeutic approaches were obtained. RESULTS. Mean patient age was 40.7 +/- 16 years. Fifty-three were men and 13 were women. Ocular trauma occurred in 40% of cases (27). Previous medications taken by the patients were quinolone in 72.5% and antimycotics in 30%. Visual acuity (VA) at presentation was >0.3 in 16% and <0.1 in 74.5%. Penetrant keratoplasty was performed in 38% and evisceration in 15%. The causing agents were Fusarium sp in 67%, Aspergillus sp in 10.5%, and Candida sp in 10%. Medication alone resolved 39% of cases within a mean period of 24.5 +/- 12 days. Final VA was >0.3 in 28%, and <0.1 in 63%. CONCLUSIONS. Fungal keratitis presented as a disease with severe complications, predominantly among young males, and was mostly caused by filamentous fungi. The present information permits the establishment of preventive strategies. Reducing the time between onset and treatment and using more accessible specific medication would reverse the negative prognosis. (Eur J Ophthalmol 2009; 19: 355-61)

Dry eye in childhood: Epidemiological and clinical aspects

Because dry eye disease is rare in children and its pathogenesis is less well known than in adults, its diagnosis is often overlooked. It can occur in association with a number of congenital, autoimmune, endocrine, and inflammatory disorders, or under certain environmental and nutritional conditions. In some cases, early detection allows the underlying cause of the dry eye to be successfully treated and eliminated. In other cases, the disease may represent a lifelong problem, whose proper management can prevent ulceration and scarring of the ocular surface. Because of the association of pediatric dry eye with other conditions, a multidisciplinary approach to diagnosis and treatment is usually required. The purpose of this review is to enhance physician awareness of dry eye in children, to describe the most frequently associated conditions, and to discuss the diagnostic and therapeutic options available.

Central mucoepidermoid carcinoma: Report of a case with 11 years` evolution and peculiar macroscopical and clinical characteristics

Central mucoepidermoid carcinomas (CMC) are uncommon tumours, comprising 2-3% of all mucoepidermoid carcinomas reported. They have been reported in patients of all ages, ranging from 1 to 78-years, with the overwhelming majority occurring in the 4th and 5th decades of life. They are histologically low-grade cancers, usually affecting the mandible as uniocular or multiocular radiographic lesions. The authors report a case of CMC of the mandible with a long evolution, and peculiar clinical and macroscopical features related with the long term evolution of the disease. A 53-year-old male patient had expansion of buccal and lingual cortices of the anterior region of the mandible, covered by ulcerated mucosa, with 11 years evolution. An incisional biopsy was performed, and the histopathological findings confirm low-grade mucoepidermoid carcinoma. The patient was treated with a mandibulectomy, followed by supraomohyoid neck dissection. There was no evidence of local recurrence, regional or distant metastasis revealed; and the patient was alive and without disease after a follow-up interval of 36 months.

Two-dimensional radiographic and clinical references of the tooth crown for orthodontic mini-implant insertion: A guide-free technique

Objective. This study evaluated the reliability of tooth-crown radiographic references to aid in orthodontic mini-implant insertion and showed an insertion technique based on these references. Study design. The sample consisted of 213 interradicular septa evaluated in 53 bitewing radiographs. The proximal contour of adjacent tooth crowns was used to define septum width and its midpoint was linked to the interdental contact point to determine septum midline (SML). The distances from SML to mesial and distal teeth were measured and compared to evaluate SML centralization degree in 2 different septum heights. Results. The mesial and distal distances were not statistically different in the midpoint of the septum height, but they were different at the apical septum height. Conclusions. The tooth-crown radiographic references determine a high centralization degree of the SML on which an insertion site could be defined. The greater SML centralization degree was observed at the coronal septum area. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010;110:e8-e16)

Regulation of yeast acetohydroxyacid synthase by valine and ATP

The first step in the common pathway for the biosynthesis of branched-chain amino acids is catalysed by acetohydroxyacid synthase (AHAS; EC 4.1.3.18). The enzyme is found in plants, fungi and bacteria, and is regulated by controls on transcription and translation, and by allosteric modulation of catalytic activity. It has long been known that the bacterial enzyme is composed of two types of subunit, and a similar arrangement has been found recently for the yeast and plant enzymes. One type of subunit contains the catalytic machinery, whereas the other has a regulatory function. Previously, we have shown [Pang and Duggleby (1999) Biochemistry 38, 5222-5231] that yeast AHAS can be reconstituted from its separately purified subunits. The, reconstituted enzyme is inhibited by valine, and ATP reverses this inhibition. In the present work, we further characterize the structure and the regulatory properties of reconstituted yeast AHAS. High phosphate concentrations are required for reconstitution and it is shown that these conditions are necessary for physical association between the catalytic and regulatory subunits. It is demonstrated by CD spectral changes that ATP binds to the regulatory subunit alone, most probably as MgATP. Neither valine nor MgATP causes dissociation of the regulatory subunit from the catalytic subunit. The specificity of valine inhibition and MgATP activation are examined and it is found that the only effective analogue of either regulator of those tested is the non-hydrolysable ATP mimic, adenosine 5 '-[beta,gamma -imido]triphosphate. The kinetics of regulation are studied in detail and it is shown that the activation by MgATP depends on the valine concentration in a complex manner that is consistent with a proposed quantitative model.

Telemedicine and clinical genetics: establishing a successful service

There is a surprising lack of published experience on the use of videoconferencing in clinical genetics. Patients were randomly allocated to either a telegenetic (cases) or face-to-face (control) conventional clinic. The telegenetic consultation was done by videoconferencing, using ISDN lines at 384 kbit/s. Evaluation by the doctor and counsellor took place immediately after each appointment. The patient was asked to evaluate the appointment by telephone questionnaire about four weeks after the event. Forty-two patients were invited to participate and 33 (79%) returned their consent forms. Four patients declined to participate and were seen in ordinary face-to-face clinics. Preliminary results showed that the assessment of the telegenetics consultations by doctors, counsellors and patients was very favourable, and they responded positively when asked if they would be happy to use telemedicine in the future. For use in selected consultations, videoconferencing does appear to fulfil a useful role in clinical genetics.

Phyllodes tumors of the breast: Correlation of nucleolar organizer regions with histopathological malignancy grading, flow cytometric DNA analysis and clinical outcome

To examine whether nucleolar organizer regions detected by argyrophilia (Ag-NOR counts) can be used as a prognostic indicator in phyllodes tumors of the breast, and to compare its usefulness with that of DNA flow cytometric analysis, 28 cases of breast phyllodes tumors (including 15 benign, two borderline and 11 malignant tumors) were subjected to Ag-NOR staining and counting as well as DNA flow cytometric analysis. S-phase fraction and DNA ploidy analysis showed useful trends for improving outcome predictions in malignant phyllodes tumors. However, high Ag-NOR counts were significant in predicting survival status (P = 0.013) and reached near statistical significance in predicting survival times (P = 0.07). In predicting survival status, results for Ag-NOR counts were significantly better than those for ploidy analysis (P = 0.02) and S-phase fraction (P < 0.01). Only S-phase fraction was significantly predictive of survival times (P = 0.025). It is concluded that Ag-NOR counts and DNA flow cytometric analysis, easily performed using paraffin sections, give information that can improve predictions made by histopathological classification. Ag-NOR counts are significant in predicting survival in the presence of histopathological features of malignancy.