Clinical and Pathological Findings in Women with Fabry Disease

Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X. Females with the defective gene are more than carriers and can develop a wide range of symptoms. Nevertheless, disease symptoms generally occur later and are less severe in women than in men. The enzyme deficiency manifests as a glycosphingolipidosis with progressive accumulation of glycosphingolipids and deposit of inclusion bodies in lysosomes giving a myelinlike appearance. Patients and Methods. Records of renal biopsies performed on adults from 1st January 2008 to 31st August 2011, were retrospectively examined at the Renal Pathology Laboratory. We retrieved biopsies diagnosed with Fabry disease and reviewed clinical and laboratory data and pathology findings. Results. Four female patients with a mean age of 49.3±4.5 (44-55) years were identified. The mean proteinuria was 0.75±0.3 g/24h (0.4-1.2) and estimated glomerular filtration rate (CKD EPI equation) was 71±15.7 ml/min/1.73m2 (48-83). Three patients experienced extra-renal organ involvement (cerebrovascular, cardiac, dermatologic, ophthalmologic and thyroid) with distinct severity degrees. Leukocyte α-GAL A activity was below normal range in the four cases but plasma and urinary enzymatic activity was normal. Light microscopy showed predominant vacuolisation of the podocyte cytoplasm and darkly staining granular inclusions on paraffin and plastic-embedded semi-thin sections. Electron microscopy showed in three patients the characteristic myelin-like inclusions in the podocyte cytoplasm and also focal podocyte foot process effacement. In one case the inclusions were also present in parietal glomerular cells, endothelial cells of peritubular capillary and arterioles. Conclusion. Clinical signs and symptoms are varied and can be severe among heterozygous females with Fabry disease. Intracellular accumulation of glycosphingolipids is a characteristic histologic finding of Fabry nephropathy. Since this disease is a potentially treatable condition, its early identification is imperative. We should consider it in the differential diagnosis of any patient presenting with proteinuria and/or chronic kidney disease, especially if there is a family history of kidney disease.

Effective swimmer’s action during the grab start technique

The external forces applied in swimming starts have been often studied, but using direct analysis and simple interpretation data processes. This study aimed to develop a tool for vertical and horizontal force assessment based on the swimmers' propulsive and structural forces (passive forces due to dead weight) applied during the block phase. Four methodological pathways were followed: the experimented fall of a rigid body, the swimmers' inertia effect, the development of a mathematical model to describe the outcome of the rigid body fall and its generalization to include the effects of the inertia, and the experimental swimmers' starting protocol analysed with the inclusion of the developed mathematical tool. The first three methodological steps resulted in the description and computation of the passive force components. At the fourth step, six well-trained swimmers performed three 15 m maximal grab start trials and three-dimensional (3D) kinetic data were obtained using a six degrees of freedom force plate. The passive force contribution to the start performance obtained from the model was subtracted from the experimental force due to the swimmers resulting in the swimmers' active forces. As expected, the swimmers' vertical and horizontal active forces accounted for the maximum variability contribution of the experimental forces. It was found that the active force profile for the vertical and horizontal components resembled one another. These findings should be considered in clarifying the active swimmers' force variability and the respective geometrical profile as indicators to redefine steering strategies.

The 2009 Pandemic Influenza A (H1N1) Infection: Renal Histopathology Findings in Two Infected Patients

Background: Acute kidney injury in the pandemic swine origin influenza A virus (H1N1) infection has been reported as coursing with severe illness, although renal pathogenic mechanisms and histologic features are still being characterised. Case Report: We present two patients admitted with H1N1 pneumonia, sepsis, acute respiratory distress syndrome and need for invasive mechanical ventilation who developed acute kidney injury and became dialysis-dependent. In both cases a kidney biopsy was performed to establish a definitive diagnosis. Severe acute tubular necrosis was identified, with no further abnormalities. Conclusion: This report seems to confirm that the acute kidney injury in H1N1 infection is focused on the tubular cells. Our cases corroborate the renal histopathologic findings of other studies, highlighting the central role of the tubular cell. We bring new evidence of the histopathology of AKI in H1N1 infection since our data were collected in living patients and not via post-mortem studies.

A real-time quantitative assay for hepatitis B DNA virus (HBV) developed to detect all HBV genotypes

Hepatitis B virus (HBV) is a major cause of chronic liver disease worldwide. Besides genotype, quantitative analysis of HBV infection is extensively used for monitoring disease progression and treatment. Affordable viral load monitoring is desirable in resource-limited settings and it has been already shown to be useful in developing countries for other viruses such as Hepatitis C virus (HCV) and HIV. In this paper, we describe the validation of a real-time PCR assay for HBV DNA quantification with TaqMan chemistry and MGB probes. Primers and probes were designed using an alignment of sequences from all HBV genotypes in order to equally amplify all of them. The assay is internally controlled and was standardized with an international HBV panel. Its efficacy was evaluated comparing the results with two other methods: Versant HBV DNA Assay 3.0 (bDNA, Siemens, NY, USA) and another real-time PCR from a reference laboratory. Intra-assay and inter-assay reproducibilities were determined and the mean of CV values obtained were 0.12 and 0.09, respectively. The assay was validated with a broad dynamic range and is efficient for amplifying all HBV genotypes, providing a good option to quantify HBV DNA as a routine procedure, with a cheap and reliable protocol.

Attitudes towards mentally ill in professionals working in Ndera neuropsychiatric hospital in Rwanda

ABSTRACT: This quantitative study investigated the attitudes toward the mentally ill in professionals working in Ndera neuropsychiatric hospital. The research questions explored were centered on the attitudes of directly involved and supportive professionals toward mentally ill clients and also on the difference between the attitudes of directly involved and supportive professionals toward mentally ill clients and demographic variables. The purpose of this study was to determine whether there are differences in attitude between direct care providers and supportive professionals toward the mentally ill clients. The Community Attitudes towards Mentally Ill (CAMI) scale (Dear & Taylor, 1982; Taylor, Dear & Hall, 1979; Taylor & Dear, 1981) was used. A total of 72 members of the staff, including 55 directly involved staff and 17 supportive staff members, participated in the survey. A summary interpretation of the main findings in this thesis reinforces the assumption that negative attitudes towards people with mental illness received in Ndera neuropsychiatric hospital are in existence, even though the majority have favorable attitudes towards the mentally ill. This suggests that persons with mental illness may encounter stigmatizing attitudes from mental health professionals. This study represents one of the first to explore professionals’ attitudes towards the mentally ill. It is hoped that this work will highlight the need to explore the influence of attitudes in the delivery of high quality healthcare. The provider–patient relationship is at the heart of effective treatment and the detrimental impact of prejudicial judgments on this relationship should not be ignored. This study also demonstrates that professionals with different roles report different attitudes and this suggest that they would behave differently towards patients with mental illness. The directly involved professionals have been found to have more positive attitudes than the supportive professional and this seems to show that as individuals improve their ability to interact with persons with mental illness, they become more tolerant. The present study demonstrates that the sociodemographic variables tested have no impact on the attitudes of the professionals working in Ndera neuropsychiatric hospital. The extent of mental health training (as part of general health training) and duration of experience of working in mental health settings did not influence attitudes. Finally, this study demonstrates that there is no correlation between the attitudes towards mentally ill patients and their inclusion in the process of decision-making.

Botulism in Brazil, 2000-2008: epidemiology, clinical findings and laboratorial diagnosis

Botulism is a rare and potentially lethal illness caused by Clostridium botulinum neurotoxin. We describe the findings of a laboratorial investigation of 117 suspected cases of botulism reported to the surveillance system in Brazil from January 2000 to October 2008. Data on the number and type of samples analyzed, type of toxins identified, reporting of the number of botulism cases and transmission sources are discussed. A total of 193 clinical samples and 81 food samples were analyzed for detection and identification of the botulism neurotoxin. Among the clinical samples, 22 (11.4%) presented the toxin (nine type A, five type AB and eight with an unidentified type); in food samples, eight (9.9%) were positive for the toxin (five type A, one type AB and two with an unidentified type). Of the 38 cases of suspected botulism in Brazil, 27 were confirmed by a mouse bioassay. Laboratorial botulism diagnosis is an important procedure to elucidate cases, especially food-borne botulism, to confirm clinical diagnosis and to identify toxins in food, helping sanitary control measures.

A Quantitative Model for Decomposing & Assessing the Value for the Customer

The research presented in this paper proposes a novel quantitative model for decomposing and assessing the Value for the Customer. The proposed approach builds on the different dimensions of the Value Network analysis proposed by Verna Allee having as background the concept of Value for the Customer proposed by Woodall. In this context, the Value for the Customer is modelled as a relationship established between the exchanged deliverables and a combination of tangible and intangible assets projected into their endogenous or exogenous dimensions. The Value Network Analysis of the deliverables exchange enables an in-depth understanding of this frontier and the implicit modelling of co-creation scenarios. The proposed Conceptual Model for Decomposing Value for the Customer combines several concepts: from the marketing area we have the concept of Value for the Customer; from the area of intellectual capital the concept of Value Network Analysis; from the collaborative networks area we have the perspective of the enterprise life cycle and the endogenous and exogenous perspectives; at last, the proposed model is supported by a mathematical formal description that stems from the area of Multi-Criteria Decision Making. The whole concept is illustrated in the context of a case study of an enterprise in the footwear industry (Pontechem). The merits of this approach seem evident from the contact with Pontechem as it provides a structured approach for the enterprises to assess the adequacy of their value proposition to the client/customer needs and how these relate to their endogenous and/or exogenous tangible or intangible assets. The proposed model, as a tool, may therefore be a useful instrument in supporting the commercialisation of new products and/or services.

Bioactive beads for local sensing of proteases in 3D engineered tissues

Dissertação para obtenção do Grau de Doutor em Bioengenharia (MIT)

Inversão estocástica de sísmica 3D post-stack e dados de poço para a caracterização de reservatórios e modelação de propriedades

Dissertação para obtenção do Grau de Mestre em Engenharia Geológica (Georrecursos)

RENAL HISTOPATHOLOGICAL FINDINGS IN DOGS WITH VISCERAL LEISHMANIASIS

Visceral leishmaniasis affects various organs including the kidneys; which can lead to renal failure and death. In order to verify this renal involvement, material was evaluated from 100 dogs naturally infected and with serological diagnosis of canine visceral leishmaniasis (CVL). Inflammatory changes were present in 25.3% of the tubules, in 67.0% of interstitium and in 52.0% of glomeruli. There was no significant difference (p > 0.05) between the presence of glomerulonephritis in symptomatic and oligosymptomatic dogs. The membranous and membranoproliferative glomerulonephritis were the most frequent, both with 18.0% frequency, followed by focal segmental glomerulosclerosis with 14.0%. Changes such as cylindruria, tubular and fibrosis hypertrophy, periglomerular inflammatory infiltrate, and multifocal and diffuse peritubular inflammatory infiltrate were observed. The findings are consistent with those of other authors indicating that renal involvement is common in CVL and the standards of membranous and membranoploriferative glomerulonephritis, as well as the tubulointerstitial involvement, are frequent.

PREHISTORICAL Pediculus humanus capitis INFESTATION: QUANTITATIVE DATA AND LOW VACUUM SCANNING MICROSCOPY

A pre-Columbian Peruvian scalp was examined decades ago by a researcher from the Oswaldo Cruz Foundation. Professor Olympio da Fonseca Filho described nits and adult lice attached to hair shafts and commented about the origin of head lice infestations on mankind. This same scalp was sent to our laboratory and is the subject of the present paper. Analysis showed a massive infestation with nine eggs/cm2 and an impressive number of very well preserved adult lice. The infestation age was roughly estimated as nine months before death based on the distance of nits from the hair root and the medium rate of hair growth. A small traditional textile was associated with the scalp, possibly part of the funerary belongings. Other morphological aspects visualized by low-vacuum scanning electron microscopy are also presented here for adults and nits.

QUANTITATIVE REAL-TIME PCR (Q-PCR) FOR SPUTUM SMEAR DIAGNOSIS OF PULMONARY TUBERCULOSIS AMONG PEOPLE WITH HIV/AIDS

Objective: To assess quantitative real-time polymerase chain reaction (q-PCR) for the sputum smear diagnosis of pulmonary tuberculosis (PTB) in patients living with HIV/AIDS with a clinical suspicion of PTB.Method: This is a prospective study to assess the accuracy of a diagnostic test, conducted on 140 sputum specimens from 140 patients living with HIV/AIDS with a clinical suspicion of PTB, attended at two referral hospitals for people living with HIV/AIDS in the city of Recife, Pernambuco, Brazil. A Löwenstein-Jensen medium culture and 7H9 broth were used as gold standard.Results: Of the 140 sputum samples, 47 (33.6%) were positive with the gold standard. q-PCR was positive in 42 (30%) of the 140 patients. Only one (0.71%) did not correspond to the culture. The sensitivity, specificity and accuracy of the q-PCR were 87.2%, 98.9% and 95% respectively. In 39 (93%) of the 42 q-PCR positive cases, the CT (threshold cycle) was equal to or less than 37.Conclusion: q-PCR performed on sputum smears from patients living with HIV/AIDS demonstrated satisfactory sensitivity, specificity and accuracy, and may therefore be recommended as a method for diagnosing PTB.

Design and implementation of 3D buildings integration for a Webgl-Based Virtual Globe: a case study of Valencian Cadastre and Fide Building Mode

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.

Estudo do Aborto Recorrente. Ainda há Lugar para a Histerossalpingografia?

Overview and Aims: The investigation of recurrent miscarriage includes the study of uterine morphology. 3D ultrasound allows the evaluation of the morphology (cavity and outer contour), reducing the need for invasive tests such as hystero - salpingography (HSG), hysteroscopy and laparoscopy. We evaluated the diagnostic agreement between HSG and 3D ultrasound in the study of the uterine cavity morphology. Study Design: Prospective study. Population: A total of 34 women referred to our institution with a history of recurrent miscarriage. Methods: To compare the results of 3D ultrasound and HSG, all women underwent both exams. 3D scans were performed by the same operator and HSG were evaluated by the same clinician. The concordance study was performed using the Kappa coefficient. Results: With 3D ultrasound and HSG, uterine anomalies were diagnosed in 52.9% (18/34) and 47% (16/34) of the cases and congenital malformations were the most frequent findings. The agreement between the two techniques was excellent(K = 0.825). The three cases of diagnostic disagreement were analyzed. Conclusion: A high level of diagnostic agreement was observed between HSG and 3D ultrasound. The 3D ultrasound, a low cost and well tolerated technique, when performed by an experienced operator, is the first line exam to study the uterine morphology in women with recurrent miscarriage.

Estudo Focado no Utilizador de Software Gratuito para Modelação e Visualização 3D Realista

Computação gráfica um campo que tem vindo a crescer bastante nos últimos anos, desde áreas como cinematográficas, dos videojogos, da animação, o avanço tem sido tão grande que a semelhança com a realidade é cada vez maior. Praticamente hoje em dia todos os filmes têm efeitos gerados através de computação gráfica, até simples anúncios de televisão para não falar do realismo dos videojogos de hoje. Este estudo tem como objectivo mostrar duas alternativas no mundo da computação gráfica, como tal, vão ser usados dois programas, Blender e Unreal Engine. O cenário em questão será todo modelado de raiz e será o mesmo nos dois programas. Serão feitos vários renders ao cenário, em ambos os programas usando diferentes materiais, diferentes tipos de iluminação, em tempo real e não de forma a mostrar as várias alternativas possíveis.