Publications by authors named "Vania B Piatto"
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.
Aim: 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. 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.
Background: 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.
Objective: 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.
Introduction: Mutations in the otoferlin gene are responsible for auditory neuropathy.
Objective: To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and without auditory neuropathy.
Methods: This original cross-sectional case study evaluated 16 index cases with auditory neuropathy, 13 patients with sensorineural hearing loss, and 20 normal-hearing subjects.
Introduction: The complexity of the nasal tip structures and the impact of surgical maneuvers make the prediction of the final outcome very difficult. Therefore, no single technique is enough to correct the several anatomical presentations, and adequate preoperative planning represents the basis of rhinoplasty.
Objective: To present results of rhinoplasty, through the gradual surgical approach to nasal tip definition based on anatomical features, and to evaluate the degree of patient satisfaction after the surgical procedure.
Introduction: Serotonin is a key neurotransmitter in the central nervous system. It has been suggested that serotoninergic dysfunction mediates the pathophysiology of temporomandibular dysfunction (TMD). Polymorphisms in the serotonin receptor gene (HTR2A) can alter its transcription, affecting the number of receptors in the serotoninergic system, altering nociceptive pain and hyperalgesia in TMD.
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- Juvenile nasopharyngeal angiofibroma (JNA) is a rare vascular tumor that mostly affects young males, particularly between the ages of 14 and 25, and is linked to the GSTM1 gene.* -
- A study in Brazil examined ten male patients with JNA, finding that 40% had the GSTM1-null genotype, but there was no significant correlation between their stage of disease or age and the genotype.* -
- The results suggest a potential association between the GSTM1-null genotype and JNA in this specific Brazilian population, highlighting the need for further research in this area.*
Article Synopsis
- Serotonin affects various bodily functions, including sleep, and variations in the 5-HT2A receptor gene may increase the risk for obstructive sleep apnea syndrome (OSAS).
- This study aimed to assess the presence of specific genetic variations (102T-C and -1438G-A polymorphisms) in Brazilian patients with and without OSAS.
- Findings showed no significant difference for the 102T-C variant, but the AA genotype of the -1438G-A polymorphism was more common in OSAS patients, suggesting a potential link between this genetic variation and the condition.
Article Synopsis
- Obstructive sleep apnea syndrome (OSAS) is influenced by genetic factors, particularly the serotonin (5-HT) system, which regulates various bodily functions including sleep.
- The study aimed to analyze the prevalence of specific genetic polymorphisms (T102C and -1438G/A) in the 5-HTR2A gene among patients with and without OSAS using DNA from blood samples.
- Results indicated a higher prevalence of males with OSAS, no difference in T102C polymorphism, but a significant association between the -1438G/A polymorphism and OSAS, suggesting a potential genetic link.
Males with obstructive sleep apnea syndrome (OSAS) may present decreased testosterone serum levels because of hypoxemia. To correlate testosterone levels in OSAS patients with laboratory parameters. 103 registries of OSAS patients were reviewed from 2002 to 2009.
View Article and Find Full Text PDFUnlabelled: Facial traumas are frequent in emergencies, and they require the diagnosis of fractures and associated lesions.
Aim: To analyze epidemiological data concerning facial trauma care.
Materials And Methods: Three hundred and fifty-five charts from patients with facial trauma treated by the Service of Otorhinolaryngology, from January 2002 to December 2008, were revised.
Unlabelled: Juvenile nasopharyngeal angiofibroma (JNA) is a rare tumor in adolescent males. It originates in the nasopharynx.
Aim: To present the experience of JNA management at an Otorhinolaryngology Service between 2001 and 2008.
Unlabelled: The A1555G mitochondrial mutation is the main alteration associated with aminoglycoside-induced deafness.
Aim: to investigate the prevalence of the A1555G mutation in patients sensorineural hearing loss patients with and without aminoglycosides antibiotic use.
Material And Method: a study of 27 cases with deafness as the sample, and 100 neonates with normal hearing as the control group.
Introduction: Presbyacusis is the most common cause of auditory dysfunction that is generally associated with aging in industrialized societies.
Objective: To assess the presence of the mitochondrial 4977-bp deletion in Brazilian patients with presbyacusis.
Materials And Methods: One hundred unrelated patients of both genders were clinically examined to exclude syndromic forms of deafness.
One in every 1,000 newborn suffers from congenital hearing impairment. More than 60% of the congenital cases are caused by genetic factors. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors.
View Article and Find Full Text PDFObjectives: To investigate the prevalence of the 35delG mutation in a newborn population, with specific molecular testing, and to evaluate the prospects for genetic neonatal screening for hearing impairment.
Population And Method: 233 newborn were evaluated at the Hospital de Base de São José do Rio Preto, SP, for molecular analysis of the 35delG mutation in the connexin 26 gene, with the reaction technique in allele-specific polymerase chain reaction, after genomic DNA extraction from umbilical cord blood.
Results: Five heterozygotes were identified, obtaining a prevalence of 2.