A5031829367- Lysosomal Storage Disorders Research
- Renal Diseases and Glomerulopathies
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Chronic Kidney Disease and Diabetes
- Retinal Development and Disorders
- Metabolism and Genetic Disorders
- Memory and Neural Mechanisms
- Retinal Diseases and Treatments
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Neurotransmitter Receptor Influence on Behavior
- Neuroscience and Neuropharmacology Research
- Skin Protection and Aging
- Conservation Techniques and Studies
- Carbohydrate Chemistry and Synthesis
- Amino Acid Enzymes and Metabolism
- Digestive system and related health
- Parvovirus B19 Infection Studies
- Dermatology and Skin Diseases
- Genetics and Neurodevelopmental Disorders
- Thyroid Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- melanin and skin pigmentation
- Biomedical Research and Pathophysiology
- Information Systems Theories and Implementation
Universidade Federal de São Paulo
2015-2025
Johns Hopkins Medicine
2023-2025
Johns Hopkins University
2023-2025
University of Cauca
2025
University of Lisbon
2019-2021
Centro Universitário Belas Artes de São Paulo
2019
Academia Nacional de Belas Artes
2019
Fundação de Apoio à Universidade Federal de São Paulo
2014-2018
University of Chile
2016
University of Minho
2015
Abstract Collapsing glomerulopathy (CG) has a severe course typically associated with viral infections, especially HIV and parvovirus B19, systemic lupus erythematosus (SLE), among other etiologies. A 35-year-old woman recent use of JAK inhibitor due to rheumatoid arthritis presented 2-week history fever, cervical adenopathy, facial erythema. After admission, anemia, hypoalbuminemia, proteinuria, acute kidney injury were noted. SLE was diagnosed B19 DNA detected in serum samples. Kidney...
Resumo A glomerulopatia colapsante (GC) apresenta um curso grave, tipicamente associado a infecções virais, especialmente HIV e parvovírus B19, lúpus eritematoso sistêmico (LES), entre outras etiologias. Uma mulher de 35 anos, com uso recente inibidor JAK devido à artrite reumatoide, apresentou histórico duas semanas febre, adenopatia cervical eritema facial. Após admissão, observou-se anemia, hipoalbuminemia, proteinúria injúria renal aguda grave. Foi diagnosticado LES o DNA do B19 foi...
Abstract Patients with Alzheimer’s disease (AD) have two types of abnormal protein buildups: amyloid plaques and neurofibrillary tangles, in addition to the early synaptic dysfunction associated enzymes acetylcholinesterase (AChE) butyrylcholinesterase (BuChE). Impairment glutamatergic system is also crucial for neuronal survival, as it can cause that overstimulates glutamate receptors, especially N-methyl-d-aspartate receptors (NMDARs). Another affecting health glycogen synthase kinase-3...
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out determination of activity; for females, enzymatic activity fails detect the disease about two-thirds patients, and only identification a pathogenic mutation GLA gene allows definite diagnosis. The hurdle be overcome this field determine whether that has never been described determines "classic" or "nonclassic"...
The aims of this study were to identify the genetic mutations profile in Brazilian children with nephrotic syndrome (NS) and determine a genotype-phenotype correlation disease.Next-generation sequencing mutation analysis performed on 24 genes related NS cross-sectional involving 95 who underwent kidney transplantation due NS, excluding congenital cases.A total 149 variants identified 22 sequenced genes. classified as pathogenic, likely benign per chance causing disease. NPHS2 was most common...
Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants unknown significance, prompting doubts about diagnosis treatment. The A enzymatic activity dried blood spot (DBS) samples widely used for screening purposes; even when values below normal found, new tests required to confirm diagnosis. Here we describe an analysis their correlation with DBS...
Duplications of the long arm chromosome 1 are rare. Distal duplications most common and have been reported as either pure trisomy or unbalanced translocations. The paucity cases with distal 1q has made it difficult to delineate a partial syndrome. Here, we report 2 patients overlapping detected by G-banding. Array CGH FISH were performed characterize duplicated segments, exclude involvement other chromosomes determine orientation duplication. Patient presents mild phenotype carries 22.5-Mb...
All human chromosomes are capped by tandem repeat (TTAGGG)n sequences that protect them against end-to-end fusion and essential to chromosomal replication integrity. Therefore, after a breakage, the deleted must be stabilized retaining telomere or acquiring new cap, healing capture. There few reports with molecular approaches on mechanisms involved in stabilization of 18q terminal deletions.In this study we analyzed nine patients deletion identified G-banding genomic array. FISH using PNA...
Purpose: To analyze the presence of complex alleles ABCA4 gene in Brazilian patients with Stargardt disease and to assess correlation clinical features. Methods: This was an observational cross-sectional study. Patients a diagnosis who presented three pathogenic variants or had previously described as were included. The relatives these probands evaluated segregation analysis. based on age at symptom onset visual acuity, characteristics classified according findings observed autofluorescence...
Hereditary angioedema (HAE) is accompanied by an overproduction of bradykinin (BK) as the primary mediator swelling. Although many proteins may be involved in regulating wide spectrum HAE symptoms, most studies have only focused on C1-INH and FXII. For first time, a next generation sequencing (NGS) method was applied to develop robust, time- cost-effective diagnostic research tool analyze selected genes related HAE. The entire coding region exon-intron boundaries 15 from 23 subjects...
Fabry disease (FD) is a rare and underdiagnosed X-linked disorder resulting from the deficient activity of lysosomal hydrolase α-galactosidase A, which leads to storage complex glycosphingolipids inside lysosomes in critical organs tissues, impairing their functions consequently progressive multisystem disease. FD caused by mutations GLA gene, only 4.6% described are located splice site regions. RNA splicing an essential step formation functional proteins, regions can cause aberrant...
Extracellular signal-regulated kinase (ERK) plays a role in neuronal changes induced by repeated drug exposure. Given that electroacupuncture reverses locomotor sensitization ethanol, we investigated whether this effect is parallel to ERK signalling. Mice received daily ethanol (2 g/kg i.p), for 21 d. Electroacupuncture was performed daily, during four (subsequent) days of withdrawal. The stimulus 2 Hz or 100 provided combinations two acupoints: Ea1 (ST-36/Zusanli and PC-6/Neiguan) Ea2...
Background: Although the pathogenicity of prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene.Purpose: The aim study was to evaluate PROM1 patients macular dystrophy.Material and methods: This retrospective evaluated detected by next-generation sequencing test dystrophy disease.Results: Of 25 medical records three were selected for study. p.Asp776Val p.Asp829Asn variants cases 1 2,...
<b><i>Background:</i></b> Fabry disease (FD) is a rare X-linked storage disorder resulting from the deficient activity of lysosomal hydrolase α-galactosidase A (α-Gal A). Here we describe 23-year-old man with FD possessing novel mutation in <i>GLA</i> gene, evaluation his family, and functional characterization variant. <b><i>Methods:</i></b> Two generations family were screened for by clinical symptoms low enzymatic activity. This...
To address the role of mixed anxiety/mood disorder on appetitive associative learning, we verify whether previous chronic light deprivation changes ethanol-induced conditioned place preference and its respective expression c-Fos pCREB, markers neuronal activity plasticity. The experimental group was maintained in for 24 h a period 4 wk. Subsequently, it adapted to standard light–dark cycle 1 As control, some mice were wk (Naïve group). Then, all animals submitted behavioral tests assess...
Neurogenesis in the subgranular layer of dentate gyrus (DG) has been suggested to underlie some forms associative learning. The present study was undertaken determine whether there also a role neurogenesis ethanol (EtOH)-induced conditioned place preference (CPP). Outbreed Swiss mice were with EtOH (2.0 g/kg) one compartment non-biased chamber and saline other compartment. This procedure produced three groups mice: developed (EtOH_Cpp), others avoidance (EtOH_Cpa) still demonstrated...
Pediatric nephrotic syndrome (PNS) is a major medical problem without known cure nor clear treatment regimen and has been the focus of intense investigation. Its most severe manifestion steroid-resistant (SRNS), second frequent cause pediatric end-stage kidney disease (ESKD).1Stokman M.F. Renkema K.Y. Giles R.H. et al.The expanding phenotypic spectra diseases: insights from genetic studies.Nat Rev Nephrol. 2016; 12: 472-483Crossref PubMed Scopus (39) Google Scholar New concepts about PNS...