The complex search for the cause of gastroschisis.

Background: To reveal the complex etiology of gastroschisis through two independent cases.

Cases: Case 1 involves gastroschisis recurrence in a consanguineous marriage, and Case 2 concerns a fetus with gastroschisis whose mother had undergone gastroplasty. Methylation array was carried out in both cases (two fetuses with gastroschisis, their two mothers, one father from the consanguineous marriage), and in 16 controls (fetuses and their respective mothers).

, , and polymorphisms in cervical insufficiency.

Objectives: To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history.

Methods: Twenty-eight women with cervical insufficiency (case group) and 29 non-pregnant women (control group) were included. The SNPs sequenced included rs2586490 in collagen type I alpha 1 chain (), rs1882435 in collagen type IV alpha 3 chain (), rs2277698 in metallopeptidase inhibitor 2 (), and rs1800468 in transforming growth factor beta 1 ().

Fetal gastroschisis: Maternal and fetal methylation profile.

Objective: The purpose of this study was to describe the genomic deoxyribonucleic acid (DNA) methylation profile in fetuses with gastroschisis, determine whether the profile was inherited, and investigate any possible correlations with maternal risk factors.

Method: Genome-wide DNA methylation analysis of 96 blood samples was performed using the Illumina Human Methylation 850K BeadChip. The blood samples were collected as follows: 32 from the umbilical cord of fetuses with gastroschisis, 32 from their respective mothers, 16 from the umbilical cord of fetuses without malformation, and 16 from their respective mothers.

Characterization of notifications of exogenous pesticide poisoning in Rio Grande do Sul, Brazil, 2011-2018.

Objective: To describe the profile of exogenous pesticide poisoning notifications in Rio Grande do Sul, Brazil, from 2011 to 2018.

Methods: This was a descriptive study of data retrieved from the Notifiable Health Conditions Information System. Sociodemographic, clinical and pesticide-related variables were included and presented in absolute and relative frequencies.

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.

We report the clinical and molecular data of a large cohort comprising 242 individuals with RASopathies, from a single Tertiary Center in Brazil, the largest study from Latin America. Noonan syndrome represented 76% of the subjects, with heterozygous variants in nine different genes, mainly PTPN11, SOS1, RAF1, LZTR1, and RIT1, detected by Sanger and next-generation sequencing. The latter was applied to 126 individuals, with a positive yield of 63% in genes of the RAS/MAPK cascade.

Effects of dietary counseling on sodium restriction in patients with chronic kidney disease on hemodialysis: A randomized clinical trial.

Reducing dietary sodium has the potential to benefit patients with chronic kidney disease on hemodialysis (HD). This study was aimed to evaluate the effects of dietary counseling on sodium restriction and its relationship with clinical, dietary, and quality of life parameters in patients on HD treatment. This study was designed as a randomized clinical trial.

Risk factors for gastroschisis: A case-control study in a Brazilian population.

Objective: To evaluate risk factors associated with fetal gastroschisis.

Methods: As a secondary aim of a larger case-control study, pregnant women attending the Fetal Medicine Unit at the Department of Obstetrics and Gynecology at Hospital das Clinicas, Sao Paulo University Medical School between July 1, 2013, and July 31, 2015, were allocated into either the gastroschisis group, where the woman was carrying a fetus with gastroschisis, or the control group, where the fetus was normal. Patients in the control group were matched at study entry for maternal age, preconception body mass index and weeks of gestation.

T-Cell Lymphoma in a Patient with Neurofibromatosis Type 1 and AIDS.

Neurofibromatosis type 1 (NF1) and AIDS are risk factors for the development of malignant neoplasms, including hematological malignancies, such as non-Hodgkin lymphoma. NF1 is an autosomal dominant disease that primarily manifests as café-au-lait spots, dermal neurofibromas, axillary and/or inguinal ephelides or freckles, plexiform neurofibromas, Lisch nodules, and bone deformities. In this report, we present a 38-year-old female patient with NF1 from childhood and AIDS who developed peripheral T-cell lymphoma with good response to chemotherapeutic treatment.

A double-blind randomized clinical trial of a silorane-based resin composite in class 2 restorations: 18-month follow-up.

Purpose: To compare the clinical performance of a silorane-based with a methacrylate-based restorative system in class 2 restorations after an 18-month follow-up.

Methods: This randomized, double-blind and controlled study included 33 subjects receiving 100 direct resin composite restorations that were completely randomized to silorane-based group (Filtek P90/Silorane System Adhesive - 3M ESPE) or methacrylate-based group (Filtek P60/Adper SE Plus - 3M ESPE). The restorative system was determined by chance using a coin toss until 50 units for each group were completed.

The short-term clinical performance of a silorane-based resin composite in the proximal contacts of class II restorations.

Aim: The aim of this randomized clinical trial was to compare the proximal contact of a silorane-based resin composite with a conventional methacrylate-based resin composite in class II restorations after a 6 months follow-up period.

Materials And Methods: After obtaining informed consent, 33 patients were randomly allocated into a test group (Filtek P90/Adhesive System-3M ESPE) or control group (Filtek P60/ Adper SE Plus-3M ESPE), and 100 direct resin composite restorations (n = 50) were placed. A single operator performed the cavities and restorations.

Caries experience in a sample of adolescents and young adults with cleft lip and palate in Brazil.

Objective : To compare the caries experience of adolescents and young adults with cleft lip and/or palate (CL/P) with a noncleft control group. Design : Thirty CL/P subjects and 30 controls were clinically examined to obtain the decayed, missing and filled teeth (DMFT) and the decayed, missing and filled surfaces (DMFS) indices, gingival bleeding index, plaque index, and active caries lesions. Data concerning oral hygiene, access to fluoridated water, mother's education level, and family income were also collected.

Validity of staining and marginal ditching as criteria for diagnosis of secondary caries around occlusal amalgam restorations: an in vitro study.

This study determined the validity of marginal ditching and staining as criteria for the diagnosis of secondary caries around amalgam restorations. One hundred and twenty-four Class I amalgam restorations on extracted human teeth were submitted to standardized clinical examinations. A calibrated examiner recorded the presence of ditching in the tooth/restoration interface, the occurrence of bluish-grey staining on the occlusal surface, and their relationship with the presence and severity of secondary carious lesions.

Prevalence of nonsyndromic oral clefts in a reference hospital in the state of Minas Gerais, Brazil, between 2000-2005.

The aim of the present study was to analyze the prevalence of nonsyndromic oral clefts in children receiving treatment at the Center for the Rehabilitation of Craniofacial Anomalies, José do Rosário Vellano University, Alfenas, MG, Brazil. All the data for the epidemiological study was retrieved from the files of 126 pediatric patients with oral clefts without any additional malformation, who came to the center for treatment between 2000 and 2005. A predominance of clefts was observed in Caucasians, and the ratio of male to female was 1.