Hot beverages and oesophageal cancer in southern Brazil: a case-control study

There is a cluster of high-incidence areas of oesophageal cancer in south-eastern South America, including Southern Brazil, Uruguay and parts of Argentina. The present case-control study investigated the hypothesis that this may be due to the drinking of maté, a traditional beverage drunk at a very high temperature, and also studied the role of other known risk factors such as alcohol and tobacco. Cases (171) and age- and sex-matched controls (342) were recruited from hospitals in the State of Rio Grande do Sul in Southern Brazil. The crude odds ratio for daily maté drinkers was 1.92 relative to those drinking less frequently than daily (p = 0.006). Other risk factors included the drinking of cachaça (a sugar cane spirit), smoking, rural residence, low fruit consumption and high intake of meats. After adjustment for these variables through conditional logistic regression, the odds ratio associated with daily maté drinking was reduced to 1.47 (90% CI = 0.87 - 2.50). Although the study failed to provide evidence of a strong association between maté and oesophageal cancer, the cluster of high rates could be explained by relative risks of the magnitude observed. This is due to the fact that approximately 70% of adult males and 50% of females are daily drinkers. In addition, this study revealed that alcohol, tobacco smoking and rural residence are the main risk factors for oesophageal cancer in this population and the fruit consumption confers some degree of protection.     

Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).

PDB is genetically heterogeneous. Mutations of the sequestosome1 gene have been reported in sporadic and familial forms of Paget's in patients of French Canadian and British descent. Mutational analyses in different ethnic groups are needed to accurately investigate hereditary diseases. We describe two novel mutations of sequestosome1 in 62 Italian sporadic patients, confirming the role of the encoded protein in this disorder. INTRODUCTION: Paget's disease of bone (PDB) is a relatively common disease of bone metabolism reported to affect up to 3% of whites over 55 years of age. The disorder is genetically heterogeneous, and at present, there is scientific evidence that at least eight different human chromosomal loci are correlated with its pathogenesis. Mutations of the sequestosome1 (SQSTM1) gene were identified as responsible for most of the sporadic and familial forms of Paget in patients of French Canadian and British descent. Such mutations were located at exon 7 and 8 levels, encoding for the ubiquitin protein-binding domain (UBA) and representing a mutational hot spot area. MATERIALS AND METHODS: To verify the involvement of this gene in Italian subjects affected by PDB, we performed mutational analysis in 62 sporadic PDB cases. RESULTS: We described three different mutations at exon 8 level: P392L, already described in the French Canadian population and families predominantly of British descendent, and two novel mutations consisting of the amino acid substitutions M404V and G425R. No significant differences in the clinical history of PDB have been observed in patients with SQSTM1 mutations in respect to those without. CONCLUSIONS: Even though our findings suggest a minor involvement of the SQSTM1 gene in the pathogenesis of sporadic Italian Paget's cases, the identification of different significant mutations within the SQSTM1 gene in unrelated, but clinically similar individuals, offers extremely convincing evidence for a causal relationship between this gene and PDB. Longitudinal studies are needed to assess the penetrance of genotype/phenotype correlations. Our findings confirm the evidence of a clustered mutation area at this level in this disorder.     

Inhibition and superactivation of the calcium-stimulated isoforms of adenylyl cyclase

It was shown previously that chronic exposure to opiate agonists increases adenylyl cyclase (AC) activity, a phenomenon termed AC superactivation (or supersensitization). More recently, we showed that acute G_i/o-coupled receptor activation inhibits the activity of several AC isozymes, including Ca²⁺/calmodulin-stimulated AC-I and -VIII, whereas chronic receptor activation induces their superactivation. Here, we report that both acute μ-opioid receptor-induced inhibition and chronic induced superactivation of AC-I and -VIII are pertussis toxin sensitive. In addition, we show that proteins that interfere with the activity of {ie195-2} subunits ({ie195-3} scavengers) strongly attenuate the acute inhibition of AC-I and -VIII and the superactivation of AC-I, and abolish the superactivation of AC-VIII. Based on these results, we suggest that {ie195-4} is involved in the acute inhibition and chronic agonist-induced superactivation of AC types I and VIII.     

Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

In the original version of this article, the title was incorrect. Please find the correct title given here. The publisher deeply regrets this error. The original article to which this Erratum refers was published in Human Mutation 22:179–180 Human Mutation(2003) 22(2) 179–180     

New HLA-A*11 allele,A*1112, identified by sequence-based typing

In this report, we describe the identification of HLA-A*1112, a novel HLA-A*11 allele found in two Italian families. The new allele was detected during routine HLA typing by a polymerase chain reaction sequence-specific primer and was confirmed by high-resolution sequencing-based typing. The nucleotide sequences of HLA-A*1112 exons 2 and 3 are identical to HLA-A*11011 except for a single nucleotide substitution in codon 90 (GAC-->GCC).     

Risco Cardiometabólico em Crianças e Adolescentes: O Paradoxo entre Índice de Massa Corporal e Aptidão Cardiorrespiratória

BackgroundCardiometabolic risk has been shown to be inversely associated with cardiorespiratory fitness (CRF) and positively associated with body mass index (BMI).ObjectiveOur objective was to analyze the association of cardiometabolic risk factors with combined BMI and CRF in schoolchildren from a city in southern Brazil.MethodsCross-sectional study with a sample of 1252 schoolchildren aged seven to 17 years. Total cholesterol (TC), HDL-c, LDL-c, triglycerides (TG), systolic (SBP) and diastolic blood pressure (DBP) were evaluated. CRF and BMI were grouped into one variable and the schoolchildren were classified as eutrophic/fit, eutrophic/unfit, overweight-obese/fit, and overweight-obese/unfit. Crude and adjusted analyzes were performed using Poisson Regression and an alpha of 0.05 was adopted.ResultsOverweight-obese and fit schoolchildren showed a prevalence ratio (PR) of 1.50 (1.04 – 2.16) for altered TG, 3.05 (2.05 – 4.54) for elevated SBP, and 2.70 (1.87 – 3.88) for elevated DBP. Overweight-obese and unfit schoolchildren showed a PR for high TC of 1.24 (1.11 – 1.39) and 1.51(1.11 – 2.04) for low HDL levels. In addition, they had a risk of 2.07 (1.60 – 2.69) for altered TG, 3.36 (2.31 – 4.60) for elevated SBP and 2.42 (1.76 – 3.32) for altered DBP.ConclusionBMI played a central role in the association with risk and CRF was shown to attenuate the association between risk factors and obesity. Overweight-obese children and adolescents had a higher cardiometabolic risk, but the effect size was larger among the unfit.     

Gingival recessions caused by Herpes Simplex Virus in a patient with COVID‐19 infection

Herpes Simplex Virus type 1 (HSV‐1) is a very common infection often localized in the mucocutaneous junction of the lip. Rarely, it could be detected also in periodontal tissues, associated with an elevated risk of periodontal disease progression and gingival recessions. Recently, HSV‐1 and numerous co‐infections have been reported in literature associated with the Coronavirus and subsequent COVID‐19 disease. This report illustrates a case of HSV‐1 in a patient with Covid‐19 infection, showing the presence of ulcers and vesicles on the gingival margin of maxillary teeth associated with soreness and pain. The histology highlighted the presence of intraepithelial cell ballooning, confirming the diagnosis of HSV‐1 infection.     

The Effect of a 2-Year Intervention Consisting of Diet,Physical Exercise,Cognitive Training,and Monitoring of Vascular Risk on Chronic Morbidity—the FINGER Randomized Controlled Trial

Objective

To verify whether a multidomain intervention lowers the risk of developing new chronic diseases in older adults.