A5015252708- Epilepsy research and treatment
- Zebrafish Biomedical Research Applications
- Neuroscience and Neuropharmacology Research
- MicroRNA in disease regulation
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- dental development and anomalies
- Pharmacological Effects and Toxicity Studies
- Bone and Dental Protein Studies
- Genomic variations and chromosomal abnormalities
- Molecular Biology Techniques and Applications
- Oral and Maxillofacial Pathology
- Chromosomal and Genetic Variations
- Drug Transport and Resistance Mechanisms
- Nanoparticles: synthesis and applications
- Graphene and Nanomaterials Applications
- Diet and metabolism studies
- Craniofacial Disorders and Treatments
- Machine Learning in Bioinformatics
- Birth, Development, and Health
- Infant Nutrition and Health
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Fish Ecology and Management Studies
- Cleft Lip and Palate Research
Universidade Estadual de Campinas (UNICAMP)
2015-2025
Brazilian Institute of Neuroscience and Neurotechnology
2017-2025
McGill University
2012
Montreal Neurological Institute and Hospital
2012
Altered glomerular metabolism of arachidonic acid (AA) has already been demonstrated in experimental nephrotoxic nephritis. The enhanced synthesis thromboxane A2 (TxA2) isolated glomeruli that found may mediate changes renal hemodynamics. objectives this investigation were: to check whether AA is also altered a model glomerulopathy which no leukocyte infiltration or platelet deposition could be demonstrated; establish correlation between the and proteinuria; explore alteration prostaglandin...
Despite some evidence of genetic and environmental factors on molar-incisor hypomineralization (MIH), its aetiology remains unclear. This family-based association study aimed more comprehensively to investigate the carriage potentially involved in MIH development. DNA was obtained from buccal cells 391 individuals who were birth family members 101 Brazilian nuclear families. Sixty-three single nucleotide polymorphisms (SNPs) investigated 21 candidate genes related amelogenesis using TaqMan™...
Abstract Type 2 diabetes mellitus (T2DM), dyslipidemia and periodontitis are frequently associated pathologies; however, there no studies showing the peripheral blood transcript profile of these combined diseases. Here we identified differentially expressed genes (DEGs) circulating lymphocytes monocytes to reveal potential biomarkers that may be used as molecular targets for future diagnosis each combination pathologies (compared healthy patients) give insights into underlying mechanisms...
Cerebral Palsy (CP) is caused by multiple risk factors bringing motor and postural control disruptions with a variety of clinical signs. To describe the epidemiological functional profile children CP attended at Physiotherapy Clinic for Motor Rehabilitation (PCMR) Clinical Hospital (CH) University Campinas (Unicamp). Children up to 12 years old were included. Epidemiological data collected through interviews, followed scales: Gross Function Classification System (GMFCS), Pediatric Evaluation...
It has been demonstrated that the zebrafish model of pentylenetetrazole (PTZ)-evoked seizures and well-established rodent models epilepsy are similar pertaining to behavior, electrographic features, c-fos expression. Although this is suitable for studying seizures, date, inflammatory response after not investigated using model. Because a relationship between inflammation established, in present study we transcript levels proinflammatory cytokines interleukin-1 beta (il1b) cyclooxygenase-2...
Abstract Our objective was to estimate the frequency as well establish clinical and neuroimaging profile of hereditary spastic paraplegia with thin corpus callosum (HSP‐TCC). HSP‐TCC recognized a specific subtype HSP mapped chromosome (ch) 15q13‐15 in Japanese families. It has been considered rare western countries. We assessed 45 patients autosomal recessive from 20 different families search imaging criteria for diagnosis HSP‐TCC. In addition, underwent further neurological, genetic...
Cyclooxygenases (COX)-1 and -2 are isoenzymes that catalyze the conversion of arachidonic acid into prostaglandins (PGs). COX-2 PGs rapidly increased following seizures known to play important roles in neuroinflammatory process. isoform has been predominantly explored as most suitable target for pharmacological intervention epilepsy studies, while COX-1 remains poorly investigated. In present study, we evaluated effects selective inhibitor or on seizure suppression zebrafish...
Age at onset (AO) in Machado-Joseph disease (MJD) is closely associated with the length of CAG repeat mutant ATXN3 allele, but there are other intervening factors. Experimental evidence indicates that normal allele and C-terminal heat shock protein 70 (Hsp70)-interacting (CHIP) may be genetic modifiers AO MJD.To investigate this hypothesis, we determined expanded repeats gene 210 unrelated patients MJD. In addition, genotyped five single nucleotide polymorphisms (SNPs) within CHIP gene. We...
Medulloblastoma (MB) is one of the most common pediatric cancers, likely originating from abnormal development cerebellar progenitor neurons. MicroRNA (miRNA) has been shown to play an important role in central nervous system. Microarray analysis was used investigate miRNA expression desmoplastic MB patients diagnosed at a young age (1 or 2 years old). Normal fetal newborn cerebellum as control. A total 84 differentially expressed miRNAs (64 downregulated and 20 upregulated) were found. Most...
<h3>Objective:</h3> To evaluate the natural history and outcome predictors in familial mesial temporal lobe epilepsy (FMTLE). <h3>Methods:</h3> We conducted a longitudinal study of 103 individuals from 17 FMTLE families (mean follow-up: 7.6 years). divided subjects into 3 groups: (n = 53), unclassified seizure 18), asymptomatics 32). patients subgroups: seizure-free 19), infrequent 17) seizures, frequent seizures further reclassified them favorable poor outcome. defined hippocampal atrophy...
Mesial temporal lobe epilepsy is the most common form of adult in surgical series. Currently, only characteristic used to predict poor response clinical treatment this syndrome presence hippocampal sclerosis. Single nucleotide polymorphisms (SNPs) located genes encoding drug transporter and metabolism proteins could influence therapy. Therefore, we aimed evaluate whether combining information from variables as well SNPs candidate improve accuracy predicting therapy patients with mesial...
The aim of this study was to investigate the segregation patterns molar incisor hypomineralization (MIH) in families, given evidence that its etiology is influenced by genetics. Clinically, MIH may be detected parents and/or siblings MIH-affected children. Our included children with at least one first permanent affected (proband) and their first-degree relatives (parents siblings). participants were examined clinically detect MIH, according European Academy Paediatric Dentistry criteria...
Cleft lip with or without palate (CL±P) is common congenital anomalies in humans. Experimental evidence has demonstrated that bone morphogenetic protein 4 gene ( Bmp4 ) involved the etiology of CL±P animal models. The nonsynonymous polymorphism rs17563 T>C (p.V152A) BMP4 been associated to risk nonsyndromic Chinese population and microforms from different ethnic backgrounds. aim this study was investigate role Brazilian sample using genetic association approach. Our composed by 123...
Abstract We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material 11p13 was cytogenetically visible array analyses identified duplicated segment 15q25‐26 chromosome region; further, revealed small deletion (49 kb) at region involving the ELP4 gene duplication 8p23.1. Results were confirmed with both molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are...
Despite increasing research in type 2 diabetes mellitus (T2D), there are few studies showing the impact of poor glycemic control on biological processes occurring T2D. In order to identify potential genes related poorly/well-controlled patients with T2D, our strategy investigation included a primary screen by microarray (Human Genome U133) small group individuals followed an independent validation greater using RT-qPCR. Ninety were divided as follows: poorly controlled T2D (G1),...
It is increasingly common to find patients affected by a combination of type 2 diabetes mellitus (T2DM), dyslipidemia (DLP) and periodontitis (PD), which are chronic inflammatory diseases. More studies able capture unknown relationships among these diseases will contribute raise biological clinical evidence. The aim this study was apply association rule mining (ARM) discover whether there consistent patterns features (CFs) differentially expressed genes (DEGs) relevant We intend reinforce...
We aimed to identify the region harboring a putative candidate gene associated with hippocampal abnormalities (HAb) in family mesial temporal lobe epilepsy (MTLE). Genome-wide scan was performed one large kindred MTLE using total of 332 microsatellite markers at ~12cM intervals. An additional 13 were genotyped region. Phenotypic classes defined according presence atrophy and/or hyperintense T2 signal detected on magnetic resonance imaging. identified significant positive LOD score chromosome...