Liver involvement in patients with Gaucher disease types I and III

ConclusionsGD is a heterogeneous disease that causes different patterns of liver damage even during treatment. Although treatment improves the hepatocellular damage, it is associated with an increased rate of steatosis. This study highlights the importance of a follow-up of liver integrity in these patients.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research

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ConclusionOur results suggest that the combination of altered expression of genes involved in signaling pathways of immune response and apoptosis control may contribute directly to the main characteristics observed in BS, such as recurrent infections, growth failure, and high risk of cancer. Transcriptome studies of other instability syndromes could allow a more accurate analysis of the relevant gene interactions associated with the destabilization of the genome. This is a first description of the profile of differential gene expression related to immunological aspects detected in patients with BS by RNA ‐seq.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
ConclusionThe genetic profiles of the IAs obtained from GP and AS were rather similar. It is important to investigate the frequencies of the IAs because expansions arise from a step ‐by‐step mechanism in which, during intergenerational transmission, large normal alleles can generate IAs, which are then responsible for generating de novo HD mutations. The genetic investigation of IAs in the GP was also important because it was focused on the population of Rio de Janeiro, an understudied group. CCG7 was the most frequent CCG allele in linkage disequilibrium with normal, intermediate, and expanded CAG alleles, similar to ...
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
An 81 ‐year‐old man was admitted due to dyspnoea and haemoptysis. We suspected diffuse alveolar haemorrhage based on computed tomography (CT) findings of diffuse bilateral ground‐grass opacity and partial consolidation. Autopsy revealed pulmonary lymphangitic carcinomatosis of whole lungs and primar y gallbladder cancer. AbstractDiagnosis in cases with pulmonary lymphangitic carcinomatosis as a primary manifestation is difficult due to unawareness of the cancer. An 81 ‐year‐old man was admitted due to a one‐week history of dyspnoea and haemoptysis. Chest computed tomography showed diffuse bilateral ground‐gra...
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research
Publication date: April 2020Source: Journal of Comparative Pathology, Volume 176Author(s): A. Rodríguez-Largo, R. de Miguel, J. Asín, F. Chocteau, M. Gimeno, P. Pinczowski, A. de Martino, L. Luján
Source: Journal of Comparative Pathology - Category: Pathology Source Type: research
Publication date: Available online 26 February 2020Source: Pathology - Research and PracticeAuthor(s): Yu Wang, Yingren Zhao, Xu Zhang, Aiyun Zhang, Juan Ma
Source: Pathology Research and Practice - Category: Pathology Source Type: research
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
Conclusions: From the Brazilian SUS perspective, bevacizumab is more cost-effective than ranibizumab for the treatment of neovascular age-related macular degeneration. Its use could allow potential annual savings in health budget.RESUMO Objetivo: Estudar o custo-efetividade do ranibizumabe e bevacizumabe no tratamento da degenera ção macular relacionada à idade neovascular. Métodos: Utilizamos um modelo de árvore de decisão para analisar a relação custo-efetividade do ranibizumabe e bevacizumabe no tratamento da degeneração macular relacionada à i...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
No abstract available
Source: Journal of Neuro-Ophthalmology - Category: Opthalmology Tags: Surgeons' Corner Source Type: research
Publication date: April 2020Source: Epilepsy &Behavior, Volume 105Author(s): Ana Letícia F. Caprara, Jamir P. Rissardo, Martim T.B. Leite, Juliana O.F. Silveira, Paulo G.M. Jauris, Josi Arend, Aline Kegler, Luiz Fernando Freire Royes, Michele Rechia Fighera
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
CONCLUSIONS: Contrast-enhanced ultrasound might be safe and as accurate as histopathology in diagnosing kidney lesions, especially renal cell carcinoma. Additionally, this study provides additional information over histopathology and has an excellent safety profile. Level of evidence: III.
Source: Clinics - Category: General Medicine Source Type: research
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