Vania Piatto | Faculdade de Medicina de São José do Rio Preto (original) (raw)

Papers by Vania Piatto

Academia Molecular Biology and Genomics, Aug 14, 2024

After the skin suffers an injury, pro-inflammatory factors and blood cells aggregate at the site,... more After the skin suffers an injury, pro-inflammatory factors and blood cells aggregate at the site, initiating the coagulation cascade for clot formation and angiogenesis. Activated platelets, via 5-HTR2A (5-hydroxytryptamine receptor-2A) receptors, secrete serotonin, which is implicated in the pro-inflammatory response to acute injury, especially in the recruitment of neutrophils and proliferation of lymphocytes, thus playing a role important role in the inflammatory stage of wound healing. Abnormalities in the different stages of the healing process cause its impairment, by inducing metabolic changes, in gene expression and, consequently, in the phenotype. Therefore, genetic alterations, especially in platelet 5-HTR2A receptors, impair the initial processes of tissue repair with a consequent decrease in the inflammatory response and detriment to the continuity of the healing process, regardless of the triggering factor. Polymorphisms in the serotonin receptor gene (5-HTR2A) are associated with several platelet disorders by affecting the serotonergic system and, among them, the 102T-C polymorphism can lead to molecular changes in the effectiveness of tissue repair control, with implications for wound healing. This review highlights the need for a new look to broaden the horizons of molecular understanding of the tissue repair and wound healing.

ABCD Arq Bras Cir Dig, 2022

BACKGROUND: Abnormalities in the different stages of the intestinal maturation process cause meta... more BACKGROUND: Abnormalities in the different stages of the intestinal maturation process cause metabolic and molecular changes. Among the genetic alterations associated with necrotizing enterocolitis, the-94ins/delATTG polymorphism in NFKB1 gene leads to unregulated activation of the NFKB protein due to an increase in the inherent pro-inflammatory state of the premature intestine. AIMS: To determine the prevalence of the-94ins/delATTG polymorphism in NFKB1 gene in neonates with and without necrotizing enterocolitis. METHODS: This is a case-control study, in which 25 neonates were evaluated as the case group and 50 neonates as the control group, of both genders. DNA was extracted from peripheral blood leukocytes, and the site encompassing the polymorphism was amplified by molecular techniques (polymerase chain reaction/polymorphism in restriction fragment length). RESULTS: Necrotizing enterocolitis was diagnosed in 25 (33%) neonates and, of these, 3 (12%) died. Male gender was more prevalent in both groups (p=0.1613): cases (52%) and controls (62%). Moderate and extreme preterm newborns were predominant in both groups: cases (80%) and controls (88%) (p=0.3036). Low birth weight and extremely low birth weight newborns were the most prevalent in cases (78%), and very low birth weight and extremely low birth weight were the most prevalent in controls (81%) (p=0.1073). Clinical treatment was successful in 72%, and hospital discharge was achieved in 88% of newborns with NEC. The-94ins/delATTG polymorphism in NFKB1 gene was not identified in all the 150 alleles analyzed (100%). CONCLUSIONS: The absence of the-94ins/delATTG polymorphism in NFKB1 gene in newborns with and without necrotizing enterocolitis does not rule out the possibility of alterations in this and/or in other genes in newborns with this condition, which reinforces the need for further research.

BACKGROUND: After bariatric surgery, if there is iron-refractory iron-deficiency anemia (IRIDA) a... more BACKGROUND: After bariatric surgery, if there is iron-refractory iron-deficiency anemia (IRIDA) and does not respond to supplemental iron therapy, excluding other possible etiologies, genetic changes involved in iron metabolism should be considered. AIM: This study aimed to investigate the association of both mutations 1285G-C and 1246C-T, in the SLC11A2 gene, and the etiopathogenesis of anemia refractory to iron supplementation in patients undergoing bariatric surgery using Roux-en-Y gastric bypass (RYGB). METHODS: A case-control study was conducted, in which 100 patients were evaluated as Cases Group [subdivided into (i) with Anemia and (ii) without Anemia] and 100 individuals as Controls, comprising both sexes. Inherited and acquired causes of IRIDA were excluded. DNA was extracted from leukocytes of peripheral blood, and the regions that cover both mutations have been amplified by the molecular techniques such as polymerase chain reaction/restriction fragment length polymorphism. RESULTS: The 1285G-C mutation was not determined in any of the 400 alleles analyzed. Regarding the 1246C-T mutation, the wild CC genotype was found with a higher prevalence in the Control Group (34%) (OR 0.5475; 95%CI 0.2920-1.027; p=0.0827). The mutant TT genotype was found only in the Cases Group I (with Anemia) (13%). CONCLUSION: The results show the association between 1246C-T mutation, in the SLC11A2 gene, and the etiopathogenesis of IRIDA to iron supplementation in the evaluated sample. There are differences, at the molecular level, in patients with and without IRIDA after bariatric surgery using RYGB.

Journal of the American College of Cardiology, 2002

S-Hypertension, Vascular Disease, and Prevention 259A wall injury in C57BIJ6J mice and ApoE-/-mic... more S-Hypertension, Vascular Disease, and Prevention 259A wall injury in C57BIJ6J mice and ApoE-/-mice. Treatment with MEG reduced neointimal thickening only in C57BIJ6J mice, suggesting a selective role for iNOS. In addition, cigarette smoking and hypercholesterolemia may have a synergistic effect on oxidative stress response to arterial injury in mice.

Genetic changes in platelet serotonin receptors (5-HTR2A) impair the initial process of tissue re... more Genetic changes in platelet serotonin receptors (5-HTR2A) impair the initial process of tissue repair, regardless of the triggering factor of the skin wound. Objective was to determine the prevalence of the 102T-C polymorphism in the 5-HTR2A gene in Brazilian patients with and without skin wounds. Crosssectional case-control study, in which 100 patients were evaluated as Cases Group (subdivided into I-with Chronic Wound and II-with Acute Wound) and 100 individuals as Controls, of both genders. DNA was extracted from leukocytes of peripheral blood and the region that covers the polymorphism was amplified by the molecular techniques Polymerase Chain Reaction/Restriction Fragment Length Polymorphism. The TT genotype was significantly associated with the protective factor against alterations in the healing process of skin wounds (OR: 0.4833; 95%CI: 0.2704-0.8638; p<0.05) in the Control Group. The genotypic analysis between Cases Group (I-Chronic Wound and II-Acute Wound) determined that the TT genotype was significantly associated with the protection factor in Case II (OR: 0.3333; 95%CI: 0.1359-0.8177; p<.005) and the CC genotype was significantly associated with the chance to develop chronic ulcers in the Case I (OR: 6.667; 95%CI: 1.801-24.683; p<0.05). Patients with chronic skin wounds have a higher prevalence of the 102T-C polymorphism in the 5-HTR2A gene, which is associated to alterations in the healing process in this population. There are differences, at the molecular level, in patients, with and without these lesions, and the probable role of the serotonergic system in wound healing.

Arquivos de Ciências da Saúde, Apr 20, 2018

The Open Biology Journal

Introduction: For many years Lactose intolerance has been, considered as a universal problem in m... more Introduction: For many years Lactose intolerance has been, considered as a universal problem in many children and adults. Objective: The aim is to investigate the prevalence of polymorphism -13910C/T, in a neonatal tracking, for early diagnosis of lactose tolerance/intolerance. Materials and Methods: In a cross-sectional study of 310 Brazilian newborns, DNA was extracted from leukocyte umbilical cord and specific primers were used to amplify the region that encloses the -13910C/T polymorphism of the MCM6 gene, using the polymerase chain reaction and the restriction fragment length polymorphism tests. Results: One hundred and sixty (52%) male newborns and 150 (48%) female new borns were evaluated. Out of these, 191 (62%) presented CC genotype (lactose intolerant), 95 (31%) CT genotype, and 24 (7%) TT genotype, comprising a total of 119 (38%) lactose tolerant newborns. Accordingly the newborns´ gender distribution in relation to the phenotypes has been found; 97 (32%) of male gender a...

Revista Brasileira De Otorrinolaringologia, 2008

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Revista Brasileira De Otorrinolaringologia, 2007

Journal of inflammation research, 2016

Periventricular leukomalacia (PVL) is a frequent consequence of hypoxic-ischemic injury. Function... more Periventricular leukomalacia (PVL) is a frequent consequence of hypoxic-ischemic injury. Functional cytokine gene variants that result in altered production of inflammatory (tumor necrosis factor-alpha [TNF-α] and interleukin-1beta [IL-1β]) or anti-inflammatory (interleukin-10 [IL-10]) cytokines may modify disease processes, including PVL. The aim of this study was to evaluate if there is a relationship between the two proinflammatory polymorphisms (TNF-α-1031T/C and IL-1β-511C/T) and the anti-inflammatory polymorphism IL-10-1082G/A and PVL risk in Brazilian newborns with and without this injury. A cross-sectional case-control study performed at the Neonatal Intensive Care Unit of the Children's Hospital and Maternity of the São José do Rio Preto Medical School (FAMERP). Fifty preterm and term newborns were examined as index cases and 50 term newborns as controls, of both sexes for both groups. DNA was extracted from peripheral blood leukocytes, and the sites that encompassed th...

Brazilian Journal of Otorhinolaryngology, 2010

Revista Brasileira De Otorrinolaringologia, 2005

Brazilian Journal of Otorhinolaryngology, 2015

Mutations in the otoferlin gene are responsible for auditory neuropathy. To investigate the preva... more Mutations in the otoferlin gene are responsible for auditory neuropathy. To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and without auditory neuropathy. This original cross-sectional case study evaluated 16 index cases with auditory neuropathy, 13 patients with sensorineural hearing loss, and 20 normal-hearing subjects. DNA was extracted from peripheral blood leukocytes, and the mutations in the otoferlin gene sites were amplified by polymerase chain reaction/restriction fragment length polymorphism. The 16 index cases included nine (56%) females and seven (44%) males. The 13 deaf patients comprised seven (54%) males and six (46%) females. Among the 20 normal-hearing subjects, 13 (65%) were males and seven were (35%) females. Thirteen (81%) index cases had wild-type genotype (AA) and three (19%) had the heterozygous AG genotype for IVS8-2A-G (intron 8) mutation. The 5473C-G (exon 44) mutation was found in a heterozygous state (CG) in seven (44%) index cases and nine (56%) had the wild-type allele (CC). Of these mutants, two (25%) were compound heterozygotes for the mutations found in intron 8 and exon 44. All patients with sensorineural hearing loss and normal-hearing individuals did not have mutations (100%). There are differences at the molecular level in patients with and without auditory neuropathy.

Brazilian journal of otorhinolaryngology

Mutations in the connexin 26 gene seem to be extremely common in non-syndromic hereditary deafnes... more Mutations in the connexin 26 gene seem to be extremely common in non-syndromic hereditary deafness genesis, especially the 35delG, but there are still only a few studies that describe the audiometric characteristics of patients with these mutations. to analyze the audiometric characteristics of patients with mutations in the connexin 26 gene in order to outline genotype-phenotype correlation. Tonal audiometries of 33 index cases of non-syndromic sensorineural hearing loss were evaluated and eight affected relatives. Specific molecular tests were carried out to analyze mutations in the connexin 26 gene. Retrospective, cross-sectional study. A 27.3% prevalence of mutation 35delG was found in the index cases and 12.5% among the relatives affected. In relation to hearing loss degree, 41.5% of the patients were found with profound hearing loss, 39% with severe HL and 19.5% with moderate HL with homozygote and heterozygote patients for the 35delG predominating in the severe-moderate heari...

The Open Otorhinolaryngology Journal, 2010

Introduction: Among the alterations caused by the use of aminoglycosides, the A1555G mitochondria... more Introduction: Among the alterations caused by the use of aminoglycosides, the A1555G mitochondrial mutation is one of the most important ones.

Revista Brasileira de Otorrinolaringologia, 2005

Aproximadamente 1/1000 recém-nascidos apresentam deficiência auditiva congênita, sendo 60% dessas... more Aproximadamente 1/1000 recém-nascidos apresentam deficiência auditiva congênita, sendo 60% dessas de etiologia genética. Na maioria dos casos, a deficiência auditiva é uma doença multifatorial causada por ambos os fatores, genéticos e ambientais. A genética molecular da deficiência auditiva tem apresentado grandes avanços na última década, pois os genes responsáveis pela deficiência auditiva hereditária vêm sendo progressivamente mapeados e clonados. Esta revisão enfatiza a deficiência auditiva não-sindrômica, uma vez que, os genes envolvidos nesse tipo de deficiência foram identificados recentemente.