Leishmania infantum heat shock protein 83 for the serodiagnosis of tegumentary leishmaniasis

The serologic assay is an important tool in the diagnosis of leishmaniasis. One of the most commonly used tests is enzyme-linked immunosorbent assay (ELISA). Since total Leishmania promastigotes are used as antigen in the routine assay, false-positive reactions are frequent due to cross-reaction with sera from other diseases, mainly Chagas' disease. Therefore, an antigen that determines less cross-reactivity has been pursued for the serodiagnosis of leishmaniasis. In the present study we analyzed the use of recombinant Leishmania infantum heat shock protein (Hsp) 83 in ELISA for the serodiagnosis of cutaneous (N = 12) and mucocutaneous leishmaniasis (N = 14) and we observed the presence of anti-L. infantum Hsp 83 antibodies in all samples as well as anti-Leishmania total antigen antibodies. When cross-reactivity was tested, chronic Chagas' disease patients (N = 10) did not show any reactivity. Therefore, we consider this L. infantum Hsp 83 to be a good antigen for routine use for serodiagnosis of tegumentary leishmaniasis.

Report of four cases of Bardet-Biedl syndrome

Bardet-Biedl syndrome is rare. Although its diagnosis depends on cardinal clinical manifestations which appear in childhood, we report four cases of Bardet-Biedl syndrome lately diagnosed in a dialysis center. Three cases were diagnosed in end-stage renal disease patients when they started maintenance hemodialysis, and one case was diagnosed through screening among hemodialysis patients' relatives. Although pediatricians have more opportunity to diagnose the syndrome, nephrologists are important during the treatment, since renal failure is the main cause of death among Bardet-Biedl syndrome patients. Moreover, late diagnosis of the syndrome among patients with end-stage renal disease can help to detect new cases through the screening among hemodialysis patients' relatives.

Study of carotid disease in patients with peripheral artery disease

Objective: To study the stenosis of the carotid arteries in patients with symptomatic peripheral arterial disease.Methods: we assessed 100 consecutive patients with symptomatic peripheral arterial disease in stages of intermittent claudication, rest pain or ulceration. Carotid stenosis was studied by echo-color-doppler, and considered significant when greater than or equal to 50%. We used univariate analysis to select potential predictors of carotid stenosis, later taken to multivariate analysis.Results: The prevalence of carotid stenosis was 84%, being significant in 40% and severe in 17%. The age range was 43-89 years (mean 69.78). Regarding gender, 61% were male and 39% female. Half of the patients had claudication and half had critical ischemia. Regarding risk factors, 86% of patients had hypertension, 66% exposure to smoke, 47% diabetes, 65% dyslipidemia, 24% coronary artery disease, 16% renal failure and 60% had family history of cardiovascular disease. In seven patients, there was a history of ischemic cerebrovascular symptoms in the carotid territory. The presence of cerebrovascular symptoms was statistically significant in influencing the degree of stenosis in the carotid arteries (p = 0.02 at overall assessment and p = 0.05 in the subgroups of significant and non-significant stenoses).Conclusion: the study of the carotid arteries by duplex scan examination is of paramount importance in the evaluation of patients with symptomatic peripheral arterial disease, and should be systematically conducted in the study of such patients.

Family expectation, social adjustment and gender differences in a sample of schizophrenic patients

A case series to study factors related to family expectation regarding schizophrenic patients was conducted in an out-patient setting in the city of S. Paulo, Brazil. Patients diagnosed as presenting schizophrenia by the ICD 9th Edition and having had the disease for more than four years were included in the study. Family Expectation was measured by the difference between the Katz Adjustment Scale (R2 and R3) scores based on the relative's expectation and the socially expected activities of the patient (Discrepancy Score), and social adjustment was given by the DSM-III-R Global Assessment Scale (GAS) . Outcome assessments were made independently, and 44 patients comprised the sample (25 males and 19 females). The Discrepancy mean score was twice as high for males as for females (p < 0.02), and there was an inverse relationship between the discrepancy score and social adjustment (r =-0.46, p < 0.001). Moreover, sex and social adjustment exerted independent effects on the discrepancy score when age, age at onset and number of psychiatric admissions were controlled by means of a multiple regression technique. There was an interaction between sex and social adjustment, the inverse relationship between social adjustment and discrepancy score being more pronounced for males. These findings are discussed in the light of the potential association between the family environment, gender and social adjustment of schizophrenic patients, and the need for further research, i.e. ethnographic accounts of interactions between patient and relatives sharing households particularly in less developed countries.

CLINICAL AND EPIDEMIOLOGICAL PROFILE OF ELDERLY PATIENTS WITH CHAGAS DISEASE FOLLOWED BETWEEN 2005-2013 BY PHARMACEUTICAL CARE SERVICE IN CEARÁ STATE, NORTHEASTERN BRAZIL

By controlling the transmission of Chagas disease, the challenge of providing assistance to millions of infected patients that reach old age arises. In this study, the socioeconomic, demographic and comorbidity records of all elderly chagasic patients followed at the Pharmaceutical Care Service of the Chagas Disease Research Laboratory were assessed. The information related to the clinical form of the disease was obtained from medical records provided by the Walter Cantídio University Hospital. The profile of the studied population was: women (50.5%); mean age of 67 years; retired (54.6%); married (51.6 %); high illiteracy rate (40.2%); and family income equal to the minimum wage (51.5%). The predominant clinical forms of Chagas disease were cardiac (65.3%) and indeterminate (14.7%). The main electrocardiographic changes were the right bundle branch block (41.0%), associated or not with the anterosuperior left bundle branch block (27.4%). The average number of comorbidities per patient was 2.23 ± 1.54, with systemic arterial hypertension being the main one found (67.0%). It was found that the elderly comprise a vulnerable group of patients that associate aging with cardiac and/or digestive disorders resulting from the evolution of Chagas disease and other comorbidities, which requires special attention from health services to ensure more appropriate medical and social care.

Holt-Oram syndrome revisited. Two patients in the same family

Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature.

Case-control study of factors associated with chronic Chagas heart disease in patients over 50 years of age

A case-control study on chronic Chagas heart disease (CCHD) was carried out between 1997 and 2005. Ninety patients over 50 years of age were examined for factors related to (CCHD). Fourty-six patients (51.1%) with Chagas heart disease (anomalous ECG) were assigned to the case group and 44 (48.9%) were included in the control group as carriers of undetermined forms of chronic disease. Social, demographic (age, gender, skin color, area of origin), epidemiological (permanence within an endemic zone, family history of Chagas heart disease or sudden death, physical strain, alcoholism, and smoking), and clinical (systemic hypertension) variables were analyzed. The data set was assessed through single-variable and multivariate analysis. The two factors independently associated with heart disease were age - presence of heart disease being three times higher in patients over 60 years of age (odds ratio, OR: 2.89; confidence interval of 95%: 1.09-7.61) - and family history of Chagas heart disease (OR: 2.833, CI 95%: 1.11-7.23). Systemic hypertension and gender did not prove to hold any association with heart disease, as neither did skin color, but this variable showed low statistical power due to reduced sample size.

Quality of life of caregivers for patients of cerebrovascular accidents: association of (socio-demographic) characteristics and burden

OBJECTIVE Investigating the association between quality of life with socio-demographic characteristics and the burden of caregivers for individuals with cerebrovascular accident sequelae. METHOD A descriptive, cross-sectional study with a sample composed of 136 caregivers. For data collection, a semi-structured questionnaire, the Barthel, Burden Interview and Short-Form-36 scales were used. Correlation analysis, t-Student test and F-test were used for the analysis in order to compare averages. RESULTS Significant averages in quality of life were demonstrated in association with female caregivers and those over 60 years in the field 'functional capacity,' and in the domains of 'mental health' and 'vitality' for those with higher income. Regarding burden association, the highlighted areas were 'functional capacity,' 'physical aspects,' 'emotional aspects' and 'pain.' CONCLUSION The creation of public policies and social support to effectively reduce the burden on caregivers is a necessity.

The psychosocial impacts caused by diagnosis and treatment of Coeliac Disease

Abstract OBJECTIVE To comprehend the psychosocial effects that Coeliac Disease diagnosis entails. METHOD Qualitative study, achieved through semi-structured interviews, analyzed in accordance to the Association of ideas map Technique. A total 12 recently-diagnosed patients from the Centro de diagnóstico, tratamento e apoio ao paciente com doença celíaca (Coeliac Disease Prevention, Support and Treatment Diagnose Centre) from the Hospital Universitário de Brasília (University Hospital of Brasilia) were enrolled for the study, between the years of 2013 and 2014. RESULTS The interviewed patients presented negative impacts in three categories: psychoaffective, family and social relationships, indicating issues with social readaptation once the treatment had started, as well as difficulty coping with a gluten free diet. CONCLUSION Coeliac Disease holds substantial impact on psychological functions, family and social relationships to diagnosed patients, requiring a clinical biopsychological assistance for better adherence to treatment and patients quality of life.

Genomic analysis of Brazilian patients with Fabry disease

Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzyme assays is often inconclusive. Therefore, mutation analysis is a valuable tool for diagnosis and genetic counseling. Many mutations of the a-galactosidase A gene have been reported with high genetic heterogeneity, being most mutations private found in only one family. The disease is panethnic, and estimates of incidence range from about 1 in 40,000 to 60,000 males. Our objective was to describe the analysis of 6 male and 7 female individuals belonging to 4 different Fabry disease families by automated sequencing of the seven exons of the a-galactosidase gene. Sequencing was performed using PCR fragments for each exon amplified from DNA extracted from peripheral blood. Three known mutations and one previously described in another Brazilian family were detected. Of 7 female relatives studied, 4 were carriers. Although the present study confirms the heterogeneity of mutations in Fabry disease, the finding of the same mutation previously detected in another Fabry family from our region raises the possibility of some founder effect, or genetic drift. Finally, the present study highlights the importance of molecular analysis for carrier detection and genetic counseling.

A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

Inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD) is a progressive and usually misdiagnosed autosomal dominant disorder. It is clinically characterized by a triad of features: proximal and distal myopathy, early onset Paget disease of bone (PDB), and frontotemporal dementia (FTD). It is caused by missense mutations in the valosin-containing protein (VCP) gene. We describe here the clinical and molecular findings of the first Brazilian family identified with IBMPFD. Progressive myopathy affecting the limb girdles was detected by clinical examination followed by muscle biopsy and creatine kinase measurement. PDB was suggested after anatomopathological bone examination and FTD was diagnosed by clinical, neuropsychological and language evaluations. Brain magnetic resonance revealed severe atrophy of the anterior temporal lobes, including the hippocampi. A R93C mutation in VCP was detected by direct sequencing screening in subject W (age 62) and in his mother. Four more individuals diagnosed with "dementia" were reported in this family. We also present a comprehensive genotype-phenotype correlation analysis of mutations in VCP in 182 patients from 29 families described in the literature and show that while IBM is a conspicuously penetrant symptom, PDB has a lower penetrance when associated with mutations in the AAAD1 domain and FTD has a lower penetrance when associated with mutations in the Junction (L1-D1) domain. Furthermore, the R93C mutation is likely to be associated with the penetrance of all the clinical symptoms of the triad.

Dyadic Relationship and Quality of Life Patients with Chronic Kidney Disease

AbstractIintroduction:Chronic Renal insufficiency (CRI) and dialysis treatment lead to a succession of situations for kidney chronic patient, which compromises his aspect, not only physically, and psychologically, with personal, family and social repercussions.Objective:(1) to verify the existence of differences of dyadic adjustment (DA) according to renal replacement treatment (RRT) and (2) verify the existence of differences quality of life (QOL) in accordance with the RRT.Methods:This is a cross-sectional study of a descriptive nature through surveys, exploratory and correlational. The sample consisted of 125 participants. Of these, 31 were to be made RRT by automated peritoneal dialysis (APD) and 94 hemodialysis (HD). Participants were selected from three renal centers: (1) Centro Renal da Prelada (Porto, Portugal), (2) Centrodial (S. João da Madeira, Portugal) and Centro Renal da Misericórdia de Paredes (Paredes, Portugal). The study was carried out for 6 months. The following instruments were applied: Socio-demographic and clinical questionnaire (SDCQ), Dyadic Adjustment Scale (DAS), World Health Organization Quality of Life (WHOQOL-Bref).Results:The results demonstrate the existence of statistically significant differences between the type of RRT and most areas of QOL, as well as the existence of statistically significant differences between the subscales of the DAS evaluated and the type of RRT.Conclusion:The present study demonstrates a greater commitment in terms of QOL of individuals undergoing treatment for HD when compared with those subjected to APD. It turns out, also, that DA is most strongly perceived by patients in APD than with HD.