Intimate partner violence crisis in the COVID-19 pandemic: how can radiologists make a difference?

Key points • The COVID-19 crisis resulted in a variety of physical and mental health issues beyond the viral infection itself, as indicated by an increase in domestic violence.• Radiologists should be aware of typical intimate partner violence (IPV) injury patterns, actively ask potential IPV victims about the cause of injury, and be familiar with support systems for IPV victims of their institutions.• Emergency and radiology departments should review their protocols for identifying and supporting IPV victims, and train their staff to work together to implement these measures during and beyond the COVID-19 crisis

Addressing intimate partner violence during the COVID-19 pandemic and beyond: how radiologists can make a difference.

Faced with the COVID-19 pandemic, many countries both in Europe and across the world implemented strict stay-at-home orders. These measures helped to slow the spread of the coronavirus but also led to increased mental and physical health issues for the domestically confined population, including an increase in the occurrence of intimate partner violence (IPV) in many countries. IPV is defined as behavior that inflicts physical, psychological, or sexual harm within an intimate relationship. We believe that as radiologists, we can make a difference by being cognizant of this condition, raising an alert when appropriate and treating suspected victims with care and empathy. The aim of this Special Report is to raise awareness of IPV among radiologists and to suggest strategies by which to identify and support IPV victims. KEY POINTS: • The COVID-19 pandemic led to a marked increase in the number of intimate partner violence (IPV) cases, potentially leading to increased emergency department visits and radiological examinations. • Most IPV-related fractures affect the face, fingers, and upper trunk, and may easily be misinterpreted as routine trauma. • Radiologists should carefully review the medical history of suspicious cases, discuss the suspicion with the referring physician, and proactively engage in a private conversation with the patient, pointing to actionable resources for IPV victims

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes

BACKGROUND: Mutations in several genes predispose to colorectal cancer. Genetic testing for hereditary colorectal cancer syndromes was previously limited to single gene tests; thus, only a very limited number of genes were tested, and rarely those infrequently mutated in colorectal cancer. Next-generation sequencing technologies have made it possible to sequencing panels of genes known and suspected to influence colorectal cancer susceptibility. METHODS: Targeted sequencing of 36 known or putative CRC susceptibility genes was conducted for 1231 CRC cases from five subsets: (1) Familial Colorectal Cancer Type X (n = 153); (2) CRC unselected by tumor immunohistochemical or microsatellite stability testing (n = 548); (3) young onset (age <50 years) (n = 333); (4) proficient mismatch repair (MMR) in cases diagnosed at ≥50 years (n = 68); and (5) deficient MMR CRCs with no germline mutations in MLH1, MSH2, MSH6, or PMS2 (n = 129). Ninety-three unaffected controls were also sequenced. RESULTS: Overall, 29 nonsense, 43 frame-shift, 13 splice site, six initiator codon variants, one stop codon, 12 exonic deletions, 658 missense, and 17 indels were identified. Missense variants were reviewed by genetic counselors to determine pathogenicity; 13 were pathogenic, 61 were not pathogenic, and 584 were variants of uncertain significance. Overall, we identified 92 cases with pathogenic mutations in APC,MLH1,MSH2,MSH6, or multiple pathogenic MUTYH mutations (7.5%). Four cases with intact MMR protein expression by immunohistochemistry carried pathogenic MMR mutations. CONCLUSIONS: Results across case subsets may help prioritize genes for inclusion in clinical gene panel tests and underscore the issue of variants of uncertain significance both in well-characterized genes and those for which limited experience has accumulated

Novos valores de referência para espirometria forçada em brasileiros adultos de raça branca New reference values for forced spirometry in white adults in Brazil

OBJETIVO: Descrever novas equações de referência para a espirometria em adultos brasileiros saudáveis que nunca fumaram, e comparar os valores previstos atuais com os valores derivados em 1992. MÉTODOS: Equações e limites de referência foram derivados em 270 homens e 373 mulheres, habitantes de oito cidades brasileiras, por espirômetro. A idade variou de 20 a 85 anos nas mulheres e 26 a 86 anos nos homens. Os exames seguiram as normas recomendadas pela Sociedade Brasileira de Pneumologia e Tisiologia. Os limites inferiores foram derivados pela análise do 5º percentil dos resíduos. RESULTADOS: Os valores previstos para capacidade vital forçada (CVF), volume expiratório forçado no primeiro segundo (VEF1) e para as relações VEF1/CVF e VEF1/volume expiratório forçado nos primeiros seis segundos (VEF6) se ajustaram melhor em regressões lineares. Os fluxos ajustaram-se melhor em equações logarítmicas. Em ambos os sexos, maiores estaturas resultaram em menores valores para as relações VEF1/CVF, VEF1/VEF6 e fluxos/CVF. Os valores de referência do VEF1 e da CVF, no presente estudo, foram maiores do que aqueles derivados para adultos brasileiros em 1992. CONCLUSÃO: Novos valores previstos para a espirometria forçada foram obtidos em uma amostra da população brasileira de raça branca. Os valores são maiores do que os obtidos em 1992, provavelmente em decorrência de fatores técnicos.<br>OBJECTIVE: To describe spirometric reference equations for healthy Brazilian adults who have never smoked and to compare the predicted values with those derived in 1992. METHODS: Reference equations for spirometry were derived in 270 men and 373 women living in eight cities in Brazil. Ages ranged from 20 to 85 years in women and from 26 to 86 years in men. Spirometry examinations followed the recommendations of the Brazilian Thoracic Society. Lower limits were derived by the analysis of the fifth percentiles of the residuals. RESULTS: Forced vital capacity (FVC), forced expiratory volume in one second (FEV1), FEV1/FVC and FEV1/forced expiratory volume in six seconds (FEV6) were best fitted by linear regression. Flows were best fitted using log equations. For both genders, greater height resulted in lower values for FEV1/FVC, FEV1/FEV6 and flow/FVC ratios. The reference values for FEV1 and FVC in the present study were higher than those derived for Brazilian adults in 1992. CONCLUSION: New predicted values for forced spirometry were obtained in a sample of white Brazilians. The values are greater than those obtained in 1992, probably due to technical factors

Analysis Association between Mitochondrial Genome Instability and Xenobiotic Metabolizing Genes in Human Breast Cancer

The aim of this study was to determine the existence of association between the genetic polymorphisms of metabolizing genes GSTM-1, GSTT-1, and NAT-2, and the presence of mitochondrial genome instability (mtGI) in breast cancer cases. Ninety-four pairs of tumoral/nontumoral breast cancer samples were analyzed. Our samples showed 40.42% of mtGI by analysis of two D-loop region markers, a (CA)n mtMS starting at the 514-bp position, and four informative MnlI sites between the 16,108-16,420-bp. GSTM-1 null genotype has shown a significant association with mtGI presence (χ2 = 7.62; P = 0.006) in breast cancer cases; moreover, these genotypes also are related to an increased risk for mtDNA damage (odds ratio [OR] = 3.71 [1.41–9.88]; 95% Cornfield confidence interval [CI]). These results suggest that the absence of GSTM-1 enzymatic activity favors chemical actions in damaging the mtDNA. Analysis of GSTT-1 and NAT-2 polymorphisms showed no association with mtGI (χ2 = 0.03; P = 0.87 and χ2 = 2.76; P = 0.09, respectively). The analysis of invasive breast cancer cases showed mtGI in 74.36% of ILC cases (29 of 39 samples), and in only 18.75% (9 out of 48) IDC cases; this result suggests a possible relation between mtDNA mutations and variations in molecular pathways of tumor development

Body Composition in Severe Refractory Asthma: Comparison with COPD Patients and Healthy Smokers

Background: Body composition is an important parameter for patients with chronic obstructive pulmonary disease (COPD) whereas the association between asthma and obesity is not fully understood. The impact of severe refractory asthma (SRA) on fat free mass (FFM) has not been investigated. Methodology and Principal Findings: 213 subjects (70 healthy smokers, 71 COPD patients and 72 asthma patients) without significant comorbidities were included in the study. In all patients, body composition assessment (using bioelectrical impendance analysis, skinfold and anthropometric measurements) and spirometry were performed. Differences in fat free mass index (FFMI) between groups were assessed and determinants of FFMI in asthma were evaluated. Patients with SRA had lower values of FFMI compared to patients with mild-to-moderate asthma [18.0(17.3-18.3)-19.5(18.4-21.5), p<0.001], despite the fact that they were more obese. The levels of FFMI in SRA were lower than those of GOLD stage I-III COPD and comparable to those of stage IV COPD patients [18.0(17.3-18.3)-18.8(17.8-20.1), p = ns]. These differences were present even after proper adjustments for sex, age, smoking status, daily dose of inhaled corticosteroids (ICS) and daily use of oral corticosteroids (OCS). In multivariate analysis, independent predictors of FFMI in asthmatic patients were age, use of OCS and the presence of SRA, but not smoking, sex or cumulative dose of ICS used. Conclusions and Significance: SRA is related to the presence of low FFMI that is comparable to that of GOLD stage IV COPD. The impact of this observation on asthma mechanisms and outcomes should be further investigated in large prospective studies