Heterozygous exon 3 deletion in the Parkin gene in a patient with clinical and radiological MSA-C phenotype

Fondation Philantropique

Sexuality in teenagers with epilepsy

Objectives: In adults with epilepsy it is well known that the epileptic syndrome, seizure frequency and antiepileptic drug use may influence sexual function and behavior. However, knowledge acquired with adult populations has been extrapolated to teenagers, based on the supposition that these patients are influenced by similar factors. This study aimed to evaluate aspects related to sexuality obtained from female adolescents with epilepsy. Methods: We carried out a prospective study of 35 female adolescents, with epilepsy, with ages from 10 to 20 years, and epileptic syndromes diagnosed according to ILAE criteria (1989). Information on sexual function and behavior of adolescents with epilepsy was evaluated by use of a standard questionnaire. Exclusion criteria were lack of menarche, previous endocrine or chronic clinical disorders, and moderate to severe mental retardation. Results: No differences were observed between the age at first sexual intercourse, sexual activity, libido and orgasm of adolescents with epilepsy when compared to controls. Epilepsy clinical variables Such as age of onset, duration and severity had no significant relationship with distinct aspects of sexual function and behavior. Conclusion: Adolescents with epilepsy represent a special patient group because, even with their chronic disorder, they have an active sexual life, despite the severity of their disorder. Therefore, aspects related to sexuality require special attention by health professionals when attending to adolescents with epilepsy. (C) 2008 Elsevier Inc. All rights reserved.

Urogenital tuberculosis in a patient with AIDS: an unusual presentation

Background A 38-year-old man with AIDS presented to hospital with a 3-month history of fevers, bilateral lumbar pain, dysuria and increased urinary frequency. Six years earlier he had received 6 months` treatment for pulmonary tuberculosis. At presentation, he was on antiretroviral therapy with a combination of efavirenz, stavudine and lamivudine. Investigations Physical examination, evaluation of HIV viral load, CD4 count, measurement of serum hemoglobin concentration, white blood cell count, urinalysis, urine culture for usual pathogens, direct smear and urine culture for Mycobacterium tuberculosis, chest radiography, abdominal CT, measurement of serum creatinine concentration and estimated creatinine clearance. Diagnosis Urogenital tuberculosis. Management The patient`s symptoms and radiological abnormalities persisted despite antibiotic therapy for presumed bacterial infection. After urine culture had confirmed M. tuberculosis infection, he was administered pharmacological treatment comprising isoniazid, rifampin, pyrazinamide and ethambutol for 2 months, with isoniazid and rifampin given for a further 7 months. His symptoms improved within a few days of initiating treatment. Six months after treatment started, CT revealed a nonfunctioning right kidney and a functional left kidney with areas of scarring. The patient refused right nephrectomy, and completed his pharmacological treatment. No evidence of disease recurrence was observed during 2 years of follow-up.

Relationship of adhesion molecules expression with epithelial differentiation markers during fetal skin development

Background: Cadherins and integrins are important for maintenance of tissue integrity and in signal transduction during skin development. Distribution of these molecules in human skin development was investigated and associated with markers of differentiation, cytokeratins (CK) and involucrin (INV). Methods: Using immunohistochemistry expression of E- and P-cadherins, integrins beta-1 and -4, CK10, CK14 and INV was assessed in skin fragments of 10 human fetuses (gestational weeks ranged from 4 to 24, all weighing up to 500 g). Results: At initial phases of development, integrins beta-1 and -4 and E- and P-cadherins were present on epithelial cell membranes in all layers. CK14 and CK10 were expressed in all epithelial layers and INV weakly detected in the superficial layer. In more advanced stages, integrins were detected in all layers, but a marked polarized expression was seen in basal layer. E-cadherin was detected in all layers, but the cornified stratum and P-cadherin were observed in the lower layers. CK14 was expressed in basal layer, CK10 in suprabasal stratum and INV was observed in cornified layer. Conclusions: Cadherins and integrins are essential for skin development, being spatially and temporally regulated. Their expression is related with the expression of maturation markers of the epidermis.

Fusariosis in an immunocompromised patient: therapeutic success with voriconazole

Fusarium infection is known to be potentially severe in immunocompromised patients, especially those with hematologic malignancies. Mortality rates are high and there are few therapeutic options, due to the severe underlying condition of this group of patients and the relative resistance Of Fusarium to conventional antifungal therapy. Voriconazole has been shown to be an effective antifungal agent for neutropenic patients with fusariosis that are refractory or unresponsive to amphotericin B, We report the successful treatment of disseminated Fusarium infection in an immunocompromised host.

Assessing the impact of upper blepharoplasty on quality of life with a standardized questionnaire (QBleflaro): a pilot study

BACKGROUND: There is scarce literature on assessing surgical results and the impact of upper blepharoplasty on quality of life of patients. OBJECTIVE: To evaluate the impact on quality of life of patients submitted to upper blepharoplasty. METHODS: A prospective study using a standardized questionnaire applied to adult women submitted to upper blepharoplasty and evaluated 90 days later to estimate the surgical impact on quality of life and complications. RESULTS: Forty-one healthy adult females (median age of 53 years) were evaluated from June 2005 to March 2006. The questionnaire showed high internal consistency. The quality of life element with greater impact on the first postoperative week was related to physical appearance perception and that of lesser impact was associated to relationship with relatives and close friends. Hypertrophic scar was the main late complication. Satisfaction levels with the surgery were significantly related with absence of undesirable effects (p<0.01). CONCLUSIONS: The authors suggest a consistent tool to evaluate the impact of this surgical procedure on quality of life of patients. High satisfaction levels with upper blepharoplasty stood out. Keywords: Blepharoplasty; Quality of life; Patient satisfaction

Autoimmune lymphoproliferative syndrome in a patient with a new minimal deletion in the death domain of the FAS gene

We present a case of autoimmune lymphoproliferative syndrome (ALPS) caused by a previously undescribed minimal deletion in the death domain of the FAS gene. ALPS is an uncommon disease associated with an impaired Fas-mediated apoptosis. The patient presented with a history of splenomegaly since 4 months of age, associated with cervical lymphadenopathy, which improved with oral corticosteroid treatment. Relevant laboratory findings were the presence of anemia, thrombocytopenia, and positive direct and indirect Coombs tests. He was not an offspring of consanguineous parents. Two cervical lymph node biopsies were performed, at 4 years and at 6 years of age. In both lymph nodes, there was marked paracortical expansion by lymphocytes in variable stages of immunoblastic transformation and a very high cell proliferating index. Some clear cells were also present, raising the suspicion of malignant lymphoma. In one of the lymph nodes, there was also a focus rich in large histiocytes with round nuclei and emperipolesis, consistent with focal Rosai-Dorfman disease. Immunostaining showed numerous CD3+ cells, many of which were double-negative (CD4- CD8-) and expressed CD57, especially around the follicles. Molecular studies of the lymph node biopsy showed a point deletion (4-base pair deletion) in exon 9 of the FAS gene (930del TGCT), which results in 3 missense amino acids. (c) 2008 Elsevier Inc. All rights reserved.

Sao Paulo Lung Transplantation Waiting List: Patient Characteristics and Predictors of Death

Introduction. Nowadays, lung transplantation (LTx) allocation in Brazil is based mainly oil waiting time. There is a need to evaluate the equity of the current lung allocation system. Objectives. We sought to (1) determine the characteristics of registered patients on the waiting list and (2) identify predictors of death on the list. Materials and Methods. We analyzed the medical records as well as clinical and laboratory data of 164 patients registered on the waiting list from 2001 to June 2008. Predictors of mortality were obtained using Cox proportional hazards analysis. Results. Patients who were registered on the waiting list showed a mean age of 36.1 +/- 15.0 vs. 42.2 +/- 15.7 years, considering those who did versus did not, die on the list, respectively (P = .054). Emphysema was the most prevalent underlying disease among the patients who did not die on the list (28.8%); its prevalence was low among the patients who died on the list (6.5%; P = .009). The following variables correlated with the probability of death on the waiting list: emphysema or bronchiectasis diagnosis (hazard ratio [HR] = 0.15; P = .002); activated partial thromboplastin time > 30 seconds (HR = 3.28; P = .002); serum albumin > 3.5 g/dL (HR = 0.41; P = .033); and hemoglobin saturation > 85% (HR = 0.44; P = .031). Conclusions. Some variables seemed to predict death on the LTx waiting list; these characteristics should be used to improve the LTx allocation criteria in Brazil.

Structure activity relationship, acute toxicity and cytotoxicity of antimycobacterial neolignan analogues

Objectives The study`s aims were to evaluate the antimycobacterial activity of 13 synthetic neolignan analogues and to perform structure activity relationship analysis (SAR). The cytotoxicity of the compound 2-phenoxy-1-phenylethanone (LS-2, 1) in mammalian cells, such as the acute toxicity in mice, was also evaluated. Methods The extra and intracellular antimycobacterial activity was evaluated on Mycobacterium tuberculosis H37Rv. Cytotoxicity studies were performed using V79 cells, J774 macrophages and rat hepatocytes. Additionally, the in-vivo acute toxicity was tested in mice. The SAR analysis was performed by Principal Component Analysis (PCA). Key findings Among the 13 analogues tested, LS-2 (1) was the most effective, showing promising antimycobacterial activity and very low cytotoxicity in V79 cells and in J774 macrophages, while no toxicity was observed in rat hepatocytes. The selectivity index (SI) of LS-2 (1) was 91 and the calculated LD50 was 1870 mg/kg, highlighting the very low toxicity in mice. SAR analysis showed that the highest electrophilicity and the lowest molar volume are physical-chemical characteristics important for the antimycobacterial activity of the LS-2 (1). Conclusions LS-2 (1) showed promising antimycobacterial activity and very weak cytotoxicity in cell culture, as well as an absence of toxicity in primary culture of hepatocytes. In the acute toxicity study there was an indication of absence of toxicity on murine models, in vivo.

Coping by relatives of critical care patients

OBJECTIVE: To describe the coping strategies used by the relatives of patients hospitalized in an intensive care unit. METHODS: This is a descriptive study that uses a convenience sample and both qualitative and quantitative methods. The study was conducted at a tertiary university hospital in Brazil. Participants included 41 relatives who were selected during the first 96 hours of patient hospitalization in the intensive care unit. RESULTS: The participants reported that they more frequently used Coping Strategies Based on the Stressor, followed by Religiosity/Fantasy Thinking and Seeking for Social Support. There was a statistically significant relationship (P <.01) between the use of the strategy Seeking for Social Support and elevated Acute Physiology, Age, and Chronic Health Evaluation 11 scores. Qualitative analysis allowed a clearer understanding of the relation between the patient`s condition and changes in the coping strategies used by the patient`s relatives. CONCLUSION: This study describes the coping strategies used by patients` relatives during the early hospitalization period. This investigation allowed for a better understanding of the relatives` psychologic aspects and their relation with the patient`s clinical condition. The results shall assist the design of specific interventions directed at facilitating positive coping responses on the part of relatives. (Heart Lung (R) 200 38:217-227.)

Evaluation of the respiratory muscle strength of cirrhotic patients: Relationship with Child-Turcotte-Pugh scoring system

Pulmonary abnormalities are observed in chronic hepatopathy. The measurement of the maximum inspiratory and expiratory pressure may evaluate lung function and the risks associated with hepatic transplantation. Thus, the present work sought to evaluate the respiratory muscle strength of 29 patients between 17 and 63 years old who were enrolled for liver transplantation. The patients were classified according to Child-Turcotte-Pugh score as A, B, or C, and also according to a physiotherapeutic evaluation, which included measurement of respiratory muscle strength by means of a digital manovactrometer, which determines the maximum inspiratory pressure (MaxIP) and the maximum expiratory pressure (MaxEP). The tests were performed with seated individuals having their nostrils obstructed by a nasal clip. The MaxIP was measured during the effort initiated in the residual volume, whereas the MaxEP was measured during the effort initiated in the total pulmonary capacity, keeping pressures stable for at least 1 second. The statistical analysis was performed through using the Mann-Whitney test with a 5% level of significance. The MaxIP values of Child A 95.5 +/- 40.507 cm H2O (average +/- DP) and Child B 87.2 +/- 35.02 patients were higher than those for Child C patients (34.83 +/- 3.68; P <.05). Similar results were observed for the MaxEP of Child A and B groups (116.25 +/- 31.98 and 97.28 +/- 31.08, respectively; P <.05), versus the Child C group (48.16 +/- 22.60). Between groups A and B, the MaxEP were similar (P >.05). We concluded that Child C patients display muscle weakness significantly greater than that of subjects classified as Child A or B.

The relationship between prevalent medial meniscal intrasubstance signal changes and incident medial meniscal tears in women over a 1-year period assessed with 3.0 T MRI

Objective Intrasubstance meniscal signal changes not reaching the articular surface on fast spin echo (FSE) sequences are considered to represent mucoid degeneration on MRI. The aim of this study was to evaluate the association of prevalent intrasubstance signal changes with incident tears of the medial meniscus detected on 3.0 T MRI over a 1-year period. Materials and methods A total of 161 women aged a parts per thousand yen40 years participated in a longitudinal 1-year observational study of knee osteoarthritis. MRI (3.0 T) was performed at baseline and 12-month follow-up. The anterior horn, body, and posterior horn of the medial meniscus were scored by two experienced musculoskeletal radiologists using the Boston-Leeds Osteoarthritis Knee Score (BLOKS) system. Four grades were used to describe the meniscal morphology: grade 0 (normal), grade 1 (intrasubstance signal changes not reaching the articular surface), grade 2 (single tears), and grade 3 (complex tears and maceration). Fisher`s exact test and the Cochran-Armitage trend test were performed to evaluate whether baseline intrasubstance signal changes (grade 1) predict incident meniscal tears/maceration (grades 2 and/or 3) in the same subregion of the medial meniscus, when compared to subregions without pathology as the reference group (grade 0). Results Medial meniscal intrasubstance signal changes at baseline did not predict tears at follow-up when evaluating the anterior and posterior horns (left-sided p-values 0.06 and 0.59, respectively). No incident tears were detected in the body. Conclusion We could not demonstrate an association between prevalent medial meniscal intrasubstance signal changes with incident tears over a 1-year period.

Relationship Between Blood Pressure and Anthropometry in a Cohort of Brazilian Men: A Cross-Sectional Study

BACKGROUND Hypertension, a risk factor for cardiovascular diseases, and obesity are becoming a health problem in many developed and developing countries, as Brazil. Although hypertension and obesity are both closely associated, there is no universal anthropometric marker of this association. This is probably due to distinct population characteristics, and in the case of Brazil, the highly heterogeneous population. We evaluated which anthropometric measurement closely relates to high blood pressure in a sample of Brazilian factory workers. METHODS A cross-sectional study was designed. In this study, multiple logistic regression and receiver operating characteristics analysis were performed in order to obtain the precise relevance of each anthropometric measurement as a blood pressure marker. Nine hundred and thirteen men, 36 +/- 8 years-old, were submitted to a standardized questionnaire of demographic and risk factors knowledge, anthropometric and conventional blood pressure measurements were taken, and blood sample evaluations of glucose, total cholesterol, LDL-Cholesterol, and triglycerides were performed. RESULTS Overweightness or obesity was identified in 64, 11.1% were smokers and hypertension was detected in 29.2% of the participants. A linear correlation was significant (P < 0.001) between both the systolic and diastolic blood pressure and all anthropometric measurements, except for the systolic blood pressure and waist-to-hip ratio. Waist circumference (WC) was the only independent anthropometric measurement related to hypertension. Hypertensive patients presented all anthropometric measurements larger than normotensives. CONCLUSIONS Age and WC were the only independent predictors of hypertension, indicating that this simple measurement may be useful as a marker of hypertension in the Brazilian male, younger adult population. Am J Hypertens 2009; 22:980-984 (C) 2009 American Journal of Hypertension, Ltd.

Relationship between serum and saliva antibodies to Candida and isolation of Candida species from the mucosa of HIV-infected individuals

Colonisation and infection by Candida species occur frequently in acquired immunodeficiency syndrome (AIDS), but their relationship to the humoral immunity against candidiasis is controversial. To evaluate the levels of antibodies to Candida in the serum and in the saliva of HIV-1-infected patients in relation to the presence of immunodeficiency, oral candidiasis and Candida colonisation, Candida was investigated in the urine and in the oral and anal mucosae of HIV-1-infected patients, AIDS patients and healthy controls. The levels of IgG, IgM and IgA antibodies to Candida were determined in the serum and in the saliva by immunoassay. Candida species were detected in 76% of the patients. Mucosal yeast colonisation and the levels of serum and saliva antibodies to Candida were similar between asymptomatic HIV-infected and non-infected patients. Mucosal colonisation was highest in AIDS patients, who also had higher serum IgA and saliva IgG antibodies. Antibody levels were similar in patients with and without candidiasis oral lesions. Asymptomatic HIV-infected individuals are similar to non-infected individuals with respect to mucosal colonisation as well as serum and saliva levels of antibodies to Candida. The higher mucosal colonisation and clinical candidiasis observed in the AIDS patients apparently stimulated a more intense humoral response to the yeast.