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Dissertação de Mestrado em Segurança Informática apresentada à Faculdade de Ciências e Tecnologia A IoT tem crescido e desenvolvido rapidamente, fazendo com que esta tecnologia seja cada vez mais adotada. Estes dispositivos são usualmente limitados no seu poder computacional, o que se torna num problema para o desenvolvimento e uso de métodos de segurança dos mesmos. Este trabalho vai apresentar uma possível solução para melhorar a privacidade e segurança na comunicação entre dispositivos IoT que sejam demasiado limitados ou que sejam usados em ambientes com recursos limitados onde os métodos de segurança são difíceis de implementar. Esteganografia será usada para melhorar a privacidade e segurança das comunicações entre os dispositivos. Foram utilizados métodos de esteganografia de rede para fazer a criação de canais secretos que têm como objetivo serem utilizados no contexto do funcionamento do protocolo CoAP – protocolo IoT para dispositivo limitados e/ou em ambientes com recursos limitados. Estes canais secretos vão utilizar elementos do header que são gerados de forma aleatória para esconder uma mensagem secreta. A utilização dos canais secretos vai garantir privacidade e confidencialidade da mensagem secreta enquanto os canais secretos permanecem anónimos, uma vez que estes fornecem segurança por obscurantismo. Foi apresentada e utilizada uma metodologia para avaliar a viabilidade dos canais secretos ao serem usados em dispositivos IoT com limitações, bem como a viabilidade dos mesmos. A avaliação dos canais secretos foi feita com o uso da plataforma IoT-LAB e com o uso das suas ferramentas. O IoT-LAB permite a obtenção de resultados mais realistas, pois o IoT-LAB utilizam sensores reais. Os resultados obtidos demonstram um aumento no consumo energético e na memória dos dispositivos IoT, porém este aumento é aceitável uma vez que os canais secretos vão aumentar a segurança das comunicações dos dispositivos IoT. Internet of Things has grown and developed rapidly, causing this technology to be increasingly adopted. These devices are often limited due to their computational power, which becomes a problem to develop and use security methods in these devices. This thesis will present a possible solution to improve security for communications between constrained IoT devices, where security methods are hard to implement. Steganography will be used to improve the privacy and security for communications between such devices. The steganography methods that were used are covert channels and they are created to be used for CoAP – Internet of things protocol for constrained devices and low-energy communications. The covert channels will hide the secret message inside header element that contains a random value. The use of the covert channels will create ways to improve the privacy and confidentiality of the secret message, while the covert channels remain undetected, since they give security through obscurity. A methodology to validate the viability of the proposed covert channels on constrained devices as well as its effectiveness was presented and used. The evaluation of the covert channels was made with the use of the platform IoT-LAB and its tools. IoT-LAB allows to get more realistic results, since it uses real sensors. The obtained results show an increase in the energy consumption and the memory usage of the IoT devices, but this increase can be acceptable since the trade-off can be acceptable because the covert channels will increase the security of the communications of the IoT devices.

Por serem minerais levemente soluveis, a dissolucao nao estequiometrica em meio aquoso e um dos principais mecanismos de geracao de cargas em fosfatos. A composicao quimica e a estrutura cristalina determinarao as propriedades interfaciais dos fosfatos, fazendo com que a classe dos fosfatos apresente grandes diversidades no que se refere ao comportamento eletrocinetico e, consequentemente, nas respostas obtidas na flotacao. Amostras de apatita, wavellita, turquesa e senegalita foram caracterizadas por difratometria de raios X (DRX), espectroscopia de fluorescencia de raios X (FRX), espectroscopia no infravermelho (Fourier transform infrared spectroscopy – FTIR), analise termogravimetrica (ATG) e microscopia eletronica de varredura (MEV).Alem da caracterizacao, foram realizadas medidas de potencial zeta em funcao do pH e do tempo.A turquesa apresentou maior area superficial especifica, resultado concordante com a tendencia de amorfizacao exibida na analise por DRX. Na espectroscopia no infravermelho, as principais bandas de vibracao dos grupos PO 4 3- foram observadas principalmente nas regioes entre 900-1100 cm -1 . O deslocamento da banda de vibracao do grupo OH para 3525 cm -1 no espectro da apatita confirma que a amostra e constituida principalmente por fluorapatita. A wavellita, a turquesa e a senegalita apresentaram, respectivamente, 24,92%, 18,73% e 18,55% de perda de massa, devido a presenca de moleculas de agua e hidroxilas nas estruturas cristalinas destes minerais. As propriedades eletrocineticas da wavellita, da turquesa e da senegalita sao determinadas pelas especies cationicas e pelos ions fosfato, enquanto a apatita tem suas propriedades fortemente influenciadas pelos ions fluor e fosfato.

Purpose The aim of this study was to sequence the coding region of the PAX4 gene in a Brazilian cohort with clinical manifestations of monogenic diabetes. Patients and Methods This study included 31 patients with autosomal dominant history of diabetes, age at diagnosis ≤40 years, BMI A), segregating with diabetes in a large Brazilian family. The mutation was absent among the control group. The index case is a woman diagnosed at 32 years of age with polyneuropathy and treated with insulin. She did not present diabetic renal disease or retinopathy. Family members with the PAX4 p.Arg164Gln mutation have a heterogeneous clinical manifestation and treatment response, with age at diagnosis ranging from 24 years to 50 years. Conclusion To the best of our knowledge, this is the first study to report a PAX4-MODY family in Brazil. The age of PAX4-MODY diagnosis in the Brazilian family seems to be higher than the classical criteria for MODY. Our results reinforce the importance of screening large monogenic diabetes families for the understanding of the clinical manifestations of rare forms of diabetes for the specific and personalized treatment.

Por serem minerais levemente solúveis, a dissolução não estequiométrica em meio aquoso é um dos principais mecanismos de geração de cargas em fosfatos. A composição química e a estrutura cristalina determinarão as propriedades interfaciais dos fosfatos, fazendo com que a classe dos fosfatos apresente grandes diversidades no que se refere ao comportamento eletrocinético e, consequentemente, nas respostas obtidas na flotação. Amostras de apatita, wavellita, turquesa e senegalita foram caracterizadas por difratometria de raios X (DRX), espectroscopia de fluorescência de raios X (FRX), espectroscopia no infravermelho (Fourier transform infrared spectroscopy – FTIR), análise termogravimétrica (ATG) e microscopia eletrônica de varredura (MEV).Além da caracterização, foram realizadas medidas de potencial zeta em função do pH e do tempo.A turquesa apresentou maior área superficial específica, resultado concordante com a tendência de amorfização exibida na análise por DRX. Na espectroscopia no infravermelho, as principais bandas de vibração dos grupos PO43- foram observadas principalmente nas regiões entre 900-1100 cm-1. O deslocamento da banda de vibração do grupo OH para 3525 cm-1 no espectro da apatita confirma que a amostra é constituída principalmente por fluorapatita. A wavellita, a turquesa e a senegalita apresentaram, respectivamente, 24,92%, 18,73% e 18,55% de perda de massa, devido à presença de moléculas de água e hidroxilas nas estruturas cristalinas destes minerais. As propriedades eletrocinéticas da wavellita, da turquesa e da senegalita são determinadas pelas espécies catiônicas e pelos íons fosfato, enquanto a apatita tem suas propriedades fortemente influenciadas pelos íons flúor e fosfato.

Introduction Amongst Parkinson's disease (PD) genetic factors, mutations in LRRK2, SNCA, VPS35 and GBA genes are recognized causes of PD. Nonetheless, few genetic screenings have been conducted in families with a history of PD consistent with autosomal dominant inheritance (ADPD), and their relevance to the etiology of PD has been poorly explored in Latin American populations, such as the Brazilian one, with a high degree of admixture. Methods In order to assess the contribution of specific mutations in LRRK2, SNCA, VPS35 and GBA genes to ADPD in Brazil, we conducted the first molecular evaluation in a cohort of 141 index cases from families with ADPD. Genomic DNA was isolated from peripheral blood or saliva, and the molecular analysis was performed by TaqMan allelic discrimination assays or bidirectional sequencing. Results Heterozygous mutations in LRRK2 and GBA genes were identified in 10 (7.0%) probands, and all presented typical signs of classical PD. No mutations were found in SNCA or VPS35 genes. Conclusion Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. The absence of mutations in VPS35 and SNCA genes reveals that they are uncommon causes of PD in Brazil, corroborating previous studies that also failed to detect these genetic variants in PD patients from other populations. Recent discoveries of novel causative genes of autosomal dominant forms of PD expand the investigative possibilities and should be targeted on future studies.

Having in mind the importance of knowing the variability and spatial correlation of soil properties in Indian Dark Earth (IDE), we evaluated in this study the variability and the spatial correlation of aggregates and carbon in an Ultisol under coffee cultivation in southern Amazonas. It was established a 48 x 88 m sampling grid spaced 06 x 08 m, totalling 88 sampling points. Then soil samples were collected at: 0.0-0.05, 0.05-0.10, and 0.10-0.20 m layers. The spatial variability of the Mean Weighted Diameter (MWD) attributes, aggregates > 2 mm, < 2 mm, bulk density (BD) and organic carbon (OC) was analyzed by adjusting the simple semivariograms, while spatial correlations of the OC with aggregates and BD were analyzed by cross-semivariogram. We could conclude that there was spatial dependence in the variables, wherein the largest ones were observed at 0.0-0.05 m, except for Mean Weighted Diameter (MWD) and aggregates greater than 2.00 mm with larger range of values in depth from 0.05-0.10 and 0.10-0.20 m. The mean weight diameter and aggregate class attributes greater than 2.00 mm had negative spatial correlation with organic carbon at 0.0-0.05 m, while the smaller aggregates than 2.00 mm classes and bulk density correlated positively with organic carbon at 0.0-0.05 m and 0.10-0.20 m. Considerando a importância do conhecimento da variabilidade e correlação espacial dos atributos do solo em Terra Preta de Índio (TPIs), avaliou-se neste trabalho a variabilidade e a correlação espacial de agregados e carbono em um Argissolo Amarelo eutrófico sob cultivo de café na região sul do Amazonas. Foi estabelecido um grid amostral com dimensões de 48 x 88 m e espaçamentos de 06 x 08 m, totalizando 88 pontos amostrais. Em seguida, foram coletadas amostras de solos nas profundidades: 0,0-0,05, 0,05-0,10, e 0,10-0,20 m. A variabilidade espacial dos atributos diâmetro médio ponderado (DMP), agregados > 2 mm, < 2 mm, densidade do solo (Ds) e carbono orgânico (CO) foi analisada ajustando os semivariogramas simples, enquanto as correlações espaciais do CO com agregados e Ds foram analisadas por semivariogramas cruzados. Concluiu-se que as variáveis apresentaram dependência espacial, e os maiores alcances são constatados na profundidade 0,0-0,05 m, exceto para DMP e agregados maiores que 2,00 mm com maioresvalores de alcance na profundidade 0,05-0,10 e 0,10-0,20 m. Os atributos diâmetro médio ponderado e classes de agregados maior que 2,00 mm apresentam correlação espacial negativa com carbono orgânico na profundidade 0,0-0,05 m, enquanto a classes de agregados menor que 2,00 mm e densidade do solo apresentam correlação positiva com carbono orgânico nas profundidades 0,0-0,05 m e 0,10-0,20 m.

No procedimento da flotação catiônica reversa utilizada para minério de ferro de baixo teor destaca-se a necessidade de aprimorar a recuperação do elemento útil. A presença de partículas finas neste sistema é um dos principais fatores diminuidor da efetividade do processo. O presente estudo teve como objetivo investigar as consequências da formação prévia de agregados com essas partículas através da utilização de floculante sintético de ação seletiva a fim de buscar uma possibilidade de se aumentar a recuperação metalúrgica nesta etapa de concentração, sem que ocorresse perda de qualidade do concentrado. Os resultados foram obtidos através da realização de ensaios de microflotação, em tubo de Hallimond modificado, com amostras de hematita pura, utilizando-se floculante da família das poliacrilamidas, combinado ao amido convencional. Nos testes de microflotação realizados com a adição do floculante poliacrilamida não iônica de alto peso molecular, combinado ao amido, ocorreu uma redução mais acentuada da flotabilidade da hematita compacta, em relação aos testes em que apenas o amido foi utilizado. A análise dos resultados demonstrou que o pré-condicionamento das amostras de hematita compacta com um floculante pode ser uma alternativa promissora para a obtenção de uma atuação depressora mais eficiente no processo de flotação e assim gerar maior recuperação metalúrgica nessa fase de beneficiamento.

It is known that the incidence of malignancy in transplant recipients is higher than in the general population, with a more aggressive behavior and a worse outcome. In fact, malignancy is the third most common cause of death among kidney transplant (KT) recipients, after cardiovascular events and infections. The aim of this study was to investigate the incidence and characteristics of malignancies after KT in a single center. A total of 2353 patients who underwent KT between 1987 and 2012 were retrospectively studied. The results were compared with a group without cancer. During the follow-up period leading to August 2014, which included a median duration of 126.3 ± 81.8 months, 223 malignancies (9.4%) were diagnosed, which were the cause of death in 59 patients. Patients with cancer were older, had a longer duration of graft function, and had more episodes of acute rejection (AR), and a higher number of patients were treated with azathioprine and cyclosporine as initial immunosuppressive regime (P = .001). The most frequent malignancy was skin cancer (28.7%), followed by malignant lymphoma (12.1%) and kidney cancer (10.8%). The mean age of patients at diagnosis was 58.0 ± 11.1 years. The average time for development of a cancer was 7.5 ± 5.8 years, with 43.2% detected between 1 and 5 years. Patient survival was significantly lower among subjects with cancer, and censored graft survival was significantly higher in this group (P = .001). Multivariate logistic regression analysis showed that recipients' age and acute rejection episode are risk factors for development of post–kidney transplantation malignancy.

NTRODUCTION: Collapsing glomerulopathy (CG) is a rare form of glomerular injury. Although commonly associated with human immunodeficiency virus (HIV) infection, it can occur in association with systemic lupus erythematosus (SLE). CASE REPORT: We present the case of a 50-year-old man, with chronic kidney disease secondary to focal and segmental glomerulosclerosis, who received a cadaveric kidney transplant in 2007. There were no relevant intercurrences until May 2015, when he presented with nephrotic range proteinuria (± 4 g/d). A graft biopsy was performed and it did not show any significant pathological changes. In September, he developed a full nephrotic syndrome (proteinuria 19 g/d) and a graft biopsy was repeated. CG features were evident with a rich immunofluorescence. Antinuclear antibodies (ANA) and anti-double-stranded DNA (anti-dsDNA) antibodies were positive; the remaining immunologic study was normal. Viral markers for HIV, hepatitis C virus (HCV), and hepatitis B virus (HBV) were negative. The patient was treated with corticosteroid pulses and plasmapheresis (seven treatments). A rapid deterioration of kidney function was seen and he became dialysis dependent. He was discharged with a low-dose immunosuppressive treatment. In October, he was hospitalized with diffuse alveolar hemorrhage (DAH). The auto-immune study was repeated, revealing complement consumption and positive titers of ANA and Anti-dsDNA antibodies. Anti-neutrophil cytoplasmic antibodies (ANCAs) and antiglomerular basement membrane antibody (anti-GBM) were negative. Treatment with intravenous corticosteroids, plasmapheresis, and human immunoglobulin was ineffective and the outcome was fatal. CONCLUSION: This case report highlights the possible association of CG and SLE. To our knowledge, it is the first case of SLE presenting with CG and DAH, with the singularity of occurring in a kidney transplant recipient receiving immunosuppression. info:eu-repo/semantics/publishedVersion

BACKGROUND: The purpose of this study was to determine the incidence of early surgical complications of kidney transplantation in our institution and its association with donor and recipient factors, as well as patient and transplant outcome. METHODS: A retrospective cohort study of all kidney transplants performed during 2015 was made. We evaluated the incidence of surgical complications and the outcome of patients and grafts at a 3-month follow-up interval. RESULTS: During the study period, 141 kidney transplants occurred. Seventeen patients had surgical complications (6 urologic, 6 vascular, and 5 other complications). Five patients lost the graft during the follow-up. Older age was associated with other surgical complications (P = .023), and graft loss was associated with the existence of surgical complications, namely, vascular complications (P

INTRODUCTION: There is a high incidence of nephrotic proteinuria in renal transplant recipients, which is an accurate predictor of graft loss. Despite this, its histologic correlates and prognostic implications are still not well characterized. We assessed the clinical and histological correlates of kidney transplantation patients with nephrotic range proteinuria. METHODS: We have retrospectively analyzed clinical and histological data from 50 kidney transplantation biopsy specimens from 44 renal transplant recipients with nephrotic range proteinuria between 2006 and 2015. The median follow-up time was 93 months (range, 14 months to 190 months). RESULTS: The mean age of the patients was 45.2 ± 13.7 years and our cohort included 86% recipients of deceased-donor grafts. The maintenance immunosuppressive regimen included calcineurin inhibitors in 68% and mammalian target of rapamycin inhibitors in 32% of patients. The average proteinuria was 6.9 ± 3.8 g/d and 52% of patients presented with nephrotic syndrome. The main histological findings were transplant glomerulopathy (22%), de novo glomerular disease (22%), and recurrence of primary disease (22%). Tubular atrophy and interstitial fibrosis was present in 78% of the biopsy specimens. Thirty-one patients (62%) lost the graft at follow-up. There was no statistically significant difference between the histologic diagnosis nor the proteinuria levels and the outcome of the graft. CONCLUSIONS: The main causes of nephrotic range proteinuria in patients undergoing biopsy were transplant glomerulopathy, recurrence of the underlying disease, and de novo glomerulonephritis. Nephrotic range proteinuria was related to a high rate of graft loss. info:eu-repo/semantics/publishedVersion

INTRODUCTION: Rehospitalization early post-kidney transplant is common and has a negative impact in morbidity, graft survival, and health costs. Infection is one the most common causes, and identifying the risk factors for early readmission due to infectious complications may guide a preventive program and improve outcome. The aim of this study was to evaluate the incidence, characterize the population, and identify the risk factors associated with early readmission for infectious complications post-kidney transplantation. METHODS: We performed a retrospective cohort study of all the kidney transplants performed during 2015. The primary outcome was readmission in the first 3 months post-transplant due to infectious causes defined by clinical and laboratory parameters. RESULTS: We evaluated 141 kidney transplants; 71% of subjects were men, with an overall mean age of 50.8 ± 15.4 years. Prior to transplant, 98% of the patients were dialysis dependent and 2% underwent pre-emptive living donor kidney transplant. The global readmission rate was 49%, of which 65% were for infectious complications. The most frequent infection was urinary tract infection (n = 28, 62%) and the most common agent detected by blood and urine cultures was Klebsiella pneumonia (n = 18, 40%). The risk factors significantly associated with readmission were higher body mass index (P = .03), diabetes mellitus (P = .02), older donor (P = .007), and longer cold ischemia time (P = .04). There were 3 graft losses, but none due to infectious complications. CONCLUSION: There was a high incidence of early rehospitalization due to infectious complications, especially urinary tract infections to nosocomial agents. The risk factors identified were similar to other series. info:eu-repo/semantics/publishedVersion

Background Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and GBA genes. In this sense, the clarification of the genotype-phenotype correlations in PD has important implications in predicting prognosis and can contribute to the development of specific therapeutic approaches. Methods Here, we conducted the first comparative analysis of motor and non-motor features in 17 LRRK2 and 22 GBA mutation carriers and 93 non-carriers unrelated PD patients from Brazil, a highly admixed population. Results Significant differences were found between the three groups. LRRK2 PD patients presented more occurrence of familiar history. Resting tremor was observed in a lower frequency in GBA mutation carries. In contrast, gait freezing and dysautonomia was present in lower frequencies in LRRK2 carriers. Besides that, LRRK2 and GBA mutation carriers showed a higher incidence of depressive symptoms and a younger age at onset, when compared to non-carriers. Conclusion Our results suggest that specific mutations in GBA and LRRK2 influence the clinical signs of the disease, with significant implications for handling of specific patient groups.

Background Patients with multiple myeloma (MM) manifesting acute kidney injury (AKI) and who later recover renal function and independence from renal replacement therapy (RRT) are considered to have a better outcome. The aim of this work was to study the factors associated with renal function recovery (independence of hemodialysis) and longer survival in these patients. Methods A retrospective single center study including patients with a diagnosis of MM and severe AKI, defined as stage 3 of the Kidney Disease: Improving Global Outcomes (KDIGO) criteria: 3.0 times baseline increase in serum creatinine (sCr) or increase in sCr to ≥ 4.0 mg/dL or initiation of RRT, was conducted. Data was registry-based and collected between January 2000 and December 2011. We examined demographic and laboratorial data, presenting clinical features, precipitating factors, need for RRT and chemotherapy. Death was considered the primary endpoint. Results Lower serum β2-microglobulin was the only independent factor associated with recovery of renal function and independence of RRT (OR 0.95, 95% CI: 0.91–0.99, P = 0.02). The median survival after AKI was 10.7 ± 12.1 months. The factors associated with longer survival were independence of RRT (HR 2.21; 95% CI: 1.08–4.49; P = 0.02), lower CRP (HR 1.07; 95% CI: 1.03–1.12; P = 0.001) and younger age (HR 1.03; 95% CI: 1.01–1.06; P = 0.005). Conclusions Our study suggests that MM patients with lower serum β2-microglobulin have a higher likelihood of recovering renal function after severe AKI. Independence of RRT, lower CRP and younger age are associated with longer survival.

Background Lupus nephritis (LN) is a common and severe manifestation of systemic lupus erythematosus (SLE) that can lead to end-stage renal disease. According to the Kidney Disease Outcomes Global Improving clinical Guidelines for Glomerulonephritis, spot urine protein/creatinine (P/C) ratio should be used for monitoring LN. However, some reports write that the random spot urine P/C ratio is unreliable in monitoring proteinuria in SLE glomerulonephritis patients. The aim of this study was to evaluate the agreement of these two assay methods. Methods The prospective observational study was performed. Fifty-three paired (total 106) spot and 24-h urine collections were evaluated. Statistical analysis: SPSS 20.0. Results Paired samples t-test did not reveal significant differences between the two-paired assay methods (spot P/C ratio versus 24-h proteinuria and 24-h P/C ratio) and a statistically significant correlation was observed between them: Pearson's coefficient of 0.847 (P < 0.001) and 0.863 (P < 0.001), respectively. However, after stratifying by degrees of proteinuria, a poor correlation was found in the range of 0.05). In fact, only 1% of 24-h measurements could be explained by the spot P/C ratio. Conclusions Our study demonstrated a good correlation between 24-h proteinuria and random P/C ratio among patients with LN. However, this correlation was poor for proteinuria under 500 mg/day and did not exist in a range between 500 and 1000 mg/day. This finding is of greater importance because this range is quite common in patients with LN remission. Until further clarification, to the best of our knowledge, we maintain reluctant to completely substitute the 24-h collection by the P/C ratio especially when a renal flare is suspected, or before any change in therapy.

Diabetes currently accounts for approximately 45% of cases of end-stage renal failure in patients undergoing hemodialysis. Several observational studies have identified a positive correlation between measures of glycemic control and cardiovascular and microvascular benefits. Several randomized prospective studies have been conducted to quantify the impact of strict glycemic control on morbidity and mortality. These studies have consistently demonstrated an association between strict glycemic control and a reduction in microvascular events, but these results contrast with the lack of consistent results regarding macrovascular events. Treating diabetes has always been challenging. This challenge is increased in chronic kidney disease, due to changes in the pharmacokinetics and pharmacodynamics of insulin and most oral antidiabetic agents. The available pharmacotherapeutic arsenal for treating type 2 diabetes mellitus currently involves approximately 6 different pharmacological classes of oral antidiabetic agents and different modalities of insulin therapy.

AL amyloidosis is a clonal plasma cell proliferative disorder characterised by extracellular tissue deposits of insoluble fibrils derived from κ or λ immunoglobulin light chains. The most common organs affected by AL amyloidosis are the kidney, presenting with nephrotic syndrome and/or progressive renal dysfunction, and the heart, with restrictive cardiomyopathy. Hepatic deposition of fibrils occurs in half the cases but the liver is rarely the predominantly affected organ. The most common presentation of hepatic amyloidosis is hepatomegaly with elevated alkaline phosphatase. Acute liver failure with cholestasis and jaundice is a rare complication, with a prevalence of approximately 5%, and is usually associated with a worse prognosis. We report a case of a 39-year-old man admitted to our nephrology department with an unusual presentation of primary amyloidosis with nephrotic syndrome and acute liver failure, complicated by obstructive cholestasis resulting in death 2 months after diagnosis.

Parkinson’s disease is one of the most common neurodegenerative disorders associated with aging, reaching ∼ 2% of individuals over 65 years. Knowledge achieved in the last decade about the genetic basis of Parkinson’s disease clearly shows that genetic factors play an important role in the etiology of this disorder. Exon dosage variations account for a high proportion of Parkinson’s disease mutations, mainly forPARKINgene. In the present study, we screened genomic rearrangements inSNCA,PARKIN,PINK1andDJ-1genes in 102 Brazilian Parkinson’s disease patients with early onset (age of onset ≤ 50 years), using the multiplex ligation-dependent probe amplification method. Family history was reported by 24 patients, while 78 were sporadic cases. Screening of exon dosage revealedPARKINandPINK1copy number variations, but no dosage alteration was found inSNCAandDJ-1genes. Most of the carriers harbor heterozygous deletions or duplications in thePARKINgene and only one patient was found to have a deletion inPINK1exon 1. Data about dosage changes are scarce in the Brazilian population, which stresses the importance of including exon dosage analysis in Parkinson’s disease genetic studies.

Introduction Invasive fungal infections (IFI) affecting transplant recipients are associated with increased mortality and graft dysfunction. Objective Describe the frequency, clinical features, and outcomes of IFI (except pneumocystis infection) in kidney transplant recipients. Method Single-center descriptive study including every kidney transplant recipient with a culture-proven or probable IFI between 2003 and 2013, according to the EORTC-MSG criteria. Results We identified 45 IFI. There were 13 cases of invasive candidiasis (C. albicans: 6 and non–C. albicans candidial spp.: 7), 11 cases of pulmonary aspergillosis (A. fumigatus: 9 and A. flavus: 2); 11 cases of subcutaneous mycosis (Alternaria spp.: 9, Paecilomyces spp.: 1, and Pseudallescheria spp.: 1); 7 cases of cryptococcosis; 2 cases of pneumonia by non-Aspergillus molds (Mucor spp.: 1 and Cunninghamella spp.: 1); and 1 case of Geotrichum capitatum pneumonia. All patients were recipients from deceased donors. Six cases occurred in the first 3 months post-transplant, 15 cases between the third and twelfth months, and 21 cases after the twelfth month. Treatment options were fluconazole for Candida infections, voriconazole or caspofungin for aspergillosis, liposomal amphotericin for cryptococcosis, and itraconazole plus excision or cryotherapy for subcutaneous mycosis. Fifteen patients died (33%). Mortality rates were 15% for invasive candidiasis, 45% for aspergillosis, 71% for cryptococcosis, 100% for non-Aspergillus molds and G. capitatum pneumonia, and 0% for subcutaneous mycosis. Six patients who survived (14%) started regular hemodialysis. Conclusion IFI still have a high mortality and morbidity in kidney transplant recipients, as verified in this report. We reinforce the need for a high index of suspicion and prompt treatment.

In mammals, methyl-CpG binding proteins play a significant role in the control of gene expression through their association with chromatin-remodeling complexes. Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome and have also been reported in a number of X-linked mental retardation diseases. In this study, DNA samples from 363 male individuals with syndromic and non-syndromic mental retardation and other psychiatric diseases were screened for A140V (419C>T) mutation in the MECP2 gene, considered the most frequent MECP2 mutation in males. No 419C>T was found suggesting that the A140V mutation in the MECP2 gene is not a common cause of mental retardation in males. Recently, a new and abundant isoform of MECP2 was described, which has an alternative N-terminus, translated from exon 1, that was previously thought to be non-coding and has been excluded from many mutational screening, as well, the 5' and 3' UTR regions. We consider essential proceeding further screening in the whole extension of the MECP2 gene using clinically well-documented and larger sized sample to assure the overall contribution of MECP2 to mental retardation.

Cantharidin is a poisonous substance secreted by blister beetles, including the 'Spanish fly'. Historically, cantharidin was used as an aphrodisiac, vesicant and abortifacient. Symptoms of poisoning include gastrointestinal and genitourinary mucosal irritation along with renal dysfunction. We present the case of a reckless 23-year-old soldier who accepted the challenge of eating a beetle (Berberomeloe majalis). Six hours later he was admitted to the emergency room with abdominal pain, dysuria, gross haematuria with clots, hypotension, fever and renal insufficiency. With intravenous fluid therapy, he recovered clinically. Laboratory parameters returned to normal within 1 week.