Bone is a dynamic biological tissue that acts as the primary rigid support of the body. Several systemic factors are responsible for pathologies that negatively affect its structural attributes. Although the bone is in continuous renewal by osteogenesis, metabolic diseases are the most common affectations that alter its natural equilibrium. Different techniques based on ionizing radiation are used for the bone diagnosis restrictively. However, if these are not used adequately, the application could present risks for human health. In this paper, it is proposed and explored a new technique to apply an early-stage diagnosis of bone variations. The technique evaluates bone structural conditions from the teeth (used as probes) by applying a structural health monitoring (SHM) methodology. An experimental procedure is described to identify the stiffness variations produced by mechanical drillings done in prepared bone samples. The identification is carried out applying the electromechanical impedance technique (EMI) through a piezo-actuated device in the frequency spectrum 5-20kHz. Three bone samples with incorporated teeth (three teeth, two teeth, and one tooth) were prepared to emulate a mandibular portion of alveolar bone-PDL (periodontal ligament)-tooth system. Piezo-device was attached to the crown of the tooth with an orthodontic bracket allowing the teeth to act as probes. The electrical resistance measurements were computed with an electrical decoupling approach that improved the detection of the drillings; it was due to the increment of the sensitivity of the signals. The results showed that the bone mass reduction is correlated with statistical indices obtained in specific frequency intervals of the electrical resistance. This work suggests the possibility of a future application addressed to a bone diagnosis in a non-invasive way.

• MeSH
• Electric Impedance MeSH
• Bone Density * MeSH
• Humans MeSH
• Mandible diagnostic imaging   MeSH
• Periodontal Ligament MeSH
• Tooth * diagnostic imaging   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

In Colombia, the first case of COVID-19 was confirmed on 6 March 2020. On 13 March 2023, Colombia registered 6,360,780 confirmed positive cases of COVID-19, representing 12.18% of the total population. The National Administrative Department of Statistics (DANE) in Colombia published in 2020 a COVID-19 vulnerability index, which estimates the vulnerability (per city block) of being infected with COVID-19. Unfortunately, DANE did not consider multiple factors that could increase the risk of COVID-19 (in addition to demographic and health), such as environmental and mobility data (found in the related literature). The proposed multidimensional index considers variables of different types (unemployment rate, gross domestic product, citizens' mobility, vaccination data, and climatological and spatial information) in which the incidence of COVID-19 is calculated and compared with the incidence of the COVID-19 vulnerability index provided by DANE. The collection, data preparation, modeling, and evaluation phases of the Cross-Industry Standard Process for Data Mining methodology (CRISP-DM) were considered for constructing the index. The multidimensional index was evaluated using multiple machine learning models to calculate the incidence of COVID-19 cases in the main cities of Colombia. The results showed that the best-performing model to predict the incidence of COVID-19 in Colombia is the Extra Trees Regressor algorithm, obtaining an R-squared of 0.829. This work is the first step toward a multidimensional analysis of COVID-19 risk factors, which has the potential to support decision making in public health programs. The results are also relevant for calculating vulnerability indexes for other viral diseases, such as dengue.

• Publication type
• Journal Article MeSH

INTRODUCTION AND OBJECTIVES: Limited information is available on the safety of pregnancy in patients with genetic dilated cardiomyopathy (DCM) and in carriers of DCM-causing genetic variants without the DCM phenotype. We assessed cardiac, obstetric, and fetal or neonatal outcomes in this group of patients. METHODS: We studied 48 women carrying pathogenic or likely pathogenic DCM-associated variants (30 with DCM and 18 without DCM) who had 83 pregnancies. Adverse cardiac events were defined as heart failure (HF), sustained ventricular tachycardia, ventricular assist device implantation, heart transplant, and/or maternal cardiac death during pregnancy, or labor and delivery, and up to the sixth postpartum month. RESULTS: A total of 15 patients, all with DCM (31% of the total cohort and 50% of women with DCM) experienced adverse cardiac events. Obstetric and fetal or neonatal complications were observed in 14% of pregnancies (10 in DCM patients and 2 in genetic carriers). We analyzed the 30 women who had been evaluated before their first pregnancy (12 with overt DCM and 18 without the phenotype). Five of the 12 (42%) women with DCM had adverse cardiac events despite showing NYHA class I or II before pregnancy. Most of these women had a history of cardiac events before pregnancy (80%). Among the 18 women without phenotype, 3 (17%) developed DCM toward the end of pregnancy. CONCLUSIONS: Cardiac complications during pregnancy and postpartum were common in patients with genetic DCM and were primarily related to HF. Despite apparently good tolerance of pregnancy in unaffected genetic carriers, pregnancy may act as a trigger for DCM onset in a subset of these women.

• MeSH
• Cardiomyopathy, Dilated * genetics   complications   MeSH
• Adult MeSH
• Phenotype MeSH
• Genetic Variation MeSH
• Pregnancy Complications, Cardiovascular * genetics   MeSH
• Humans MeSH
• Pregnancy MeSH
• Pregnancy Outcome * MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

• MeSH
• Diagnostic Imaging methods   MeSH
• Child MeSH
• Infant MeSH
• Fetal Diseases diagnostic imaging   diagnosis   MeSH
• Prenatal Diagnosis methods   MeSH
• Check Tag
• Child MeSH
• Infant MeSH

• Conspectus
• Patologie. Klinická medicína
• Pediatrie
• NML Fields
• pediatrie
• radiologie, nukleární medicína a zobrazovací metody
• perinatologie a neonatologie
• NML Publication type
• kolektivní monografie

Healthcare workers (HCWs) were at increased risk for mental health problems during the COVID-19 pandemic, with prior data suggesting women may be particularly vulnerable. Our global mental health study aimed to examine factors associated with gender differences in psychological distress and depressive symptoms among HCWs during COVID-19. Across 22 countries in South America, Europe, Asia and Africa, 32,410 HCWs participated in the COVID-19 HEalth caRe wOrkErS (HEROES) study between March 2020 and February 2021. They completed the General Health Questionnaire-12, the Patient Health Questionnaire-9 and questions about pandemic-relevant exposures. Consistently across countries, women reported elevated mental health problems compared to men. Women also reported increased COVID-19-relevant stressors, including insufficient personal protective equipment and less support from colleagues, while men reported increased contact with COVID-19 patients. At the country level, HCWs in countries with higher gender inequality reported less mental health problems. Higher COVID-19 mortality rates were associated with increased psychological distress merely among women. Our findings suggest that among HCWs, women may have been disproportionately exposed to COVID-19-relevant stressors at the individual and country level. This highlights the importance of considering gender in emergency response efforts to safeguard women's well-being and ensure healthcare system preparedness during future public health crises.

• Publication type
• Journal Article MeSH

BACKGROUND: Heterozygous germline mutations in cytotoxic T lymphocyte-associated antigen-4 (CTLA4) impair the immunomodulatory function of regulatory T cells. Affected individuals are prone to life-threatening autoimmune and lymphoproliferative complications. A number of therapeutic options are currently being used with variable effectiveness. OBJECTIVE: Our aim was to characterize the responsiveness of patients with CTLA-4 insufficiency to specific therapies and provide recommendations for the diagnostic workup and therapy at an organ-specific level. METHODS: Clinical features, laboratory findings, and response to treatment were reviewed retrospectively in an international cohort of 173 carriers of CTLA4 mutation. Patients were followed between 2014 and 2020 for a total of 2624 months from diagnosis. Clinical manifestations were grouped on the basis of organ-specific involvement. Medication use and response were recorded and evaluated. RESULTS: Among the 173 CTLA4 mutation carriers, 123 (71%) had been treated for immune complications. Abatacept, rituximab, sirolimus, and corticosteroids ameliorated disease severity, especially in cases of cytopenias and lymphocytic organ infiltration of the gut, lungs, and central nervous system. Immunoglobulin replacement was effective in prevention of infection. Only 4 of 16 patients (25%) with cytopenia who underwent splenectomy had a sustained clinical response. Cure was achieved with stem cell transplantation in 13 of 18 patients (72%). As a result of the aforementioned methods, organ-specific treatment pathways were developed. CONCLUSION: Systemic immunosuppressants and abatacept may provide partial control but require ongoing administration. Allogeneic hematopoietic stem cell transplantation offers a possible cure for patients with CTLA-4 insufficiency.

• MeSH
• Agammaglobulinemia etiology   MeSH
• CTLA-4 Antigen deficiency   genetics   MeSH
• Autoimmune Diseases etiology   MeSH
• Child MeSH
• Adult MeSH
• Genetic Association Studies MeSH
• Transplantation, Homologous MeSH
• Lung Diseases, Interstitial etiology   MeSH
• Infant MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Child, Preschool MeSH
• Aged MeSH
• Immunologic Deficiency Syndromes complications   genetics   therapy   MeSH
• Hematopoietic Stem Cell Transplantation MeSH
• Germ-Line Mutation * MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Infant MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Child, Preschool MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents.

• MeSH
• Databases, Nucleic Acid MeSH
• DNA Fingerprinting MeSH
• Ethnicity genetics   MeSH
• Gene Frequency MeSH
• Genotype MeSH
• Polymorphism, Single Nucleotide * MeSH
• Laboratories statistics & numerical data   MeSH
• Humans MeSH
• Microsatellite Repeats MeSH
• INDEL Mutation * MeSH
• Genetics, Population * MeSH
• Racial Groups genetics   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

BACKGROUND: Long-term deterioration in the mental health of healthcare workers (HCWs) has been reported during and after the COVID-19 pandemic. Determining the impact of COVID-19 incidence and mortality rates on the mental health of HCWs is essential to prepare for potential new pandemics. This study aimed to investigate the association of COVID-19 incidence and mortality rates with depressive symptoms over 2 years among HCWs in 20 countries during and after the COVID-19 pandemic. METHODS: This was a multi-country serial cross-sectional study using data from the first and second survey waves of the COVID-19 HEalth caRe wOrkErS (HEROES) global study. The HEROES study prospectively collected data from HCWs at various health facilities. The target population included HCWs with both clinical and non-clinical roles. In most countries, healthcare centers were recruited based on convenience sampling. As an independent variable, daily COVID-19 incidence and mortality rates were calculated using confirmed cases and deaths reported by Johns Hopkins University. These rates represent the average for the 7 days preceding the participants' response date. The primary outcome was depressive symptoms, assessed by the Patient Health Questionnaire-9. A multilevel linear mixed model (LMM) was conducted to investigate the association of depressive symptoms with the average incidence and mortality rates. RESULTS: A total of 32,223 responses from the participants who responded to all measures used in this study on either the first or second survey, and on both the first and second surveys in 20 countries were included in the analysis. The mean age was 40.1 (SD = 11.1), and 23,619 responses (73.3%) were from females. The 9323 responses (28.9%) were nurses and 9119 (28.3%) were physicians. LMM showed that the incidence rate was significantly and positively associated with depressive symptoms (coefficient = 0.008, standard error 0.003, p = 0.003). The mortality rate was significantly and positively associated with depressive symptoms (coefficient = 0.049, se = 0.020, p = 0.017). CONCLUSIONS: This is the first study to show an association between COVID-19 incidence and mortality rates with depressive symptoms among HCWs during the first 2 years of the outbreak in multiple countries. This study's findings indicate that additional mental health support for HCWs was needed when the COVID-19 incidence and mortality rates increase during and after the early phase of the pandemic, and these findings may apply to future pandemics. TRIAL REGISTRATION: Clinicaltrials.gov, NCT04352634.

• MeSH
• COVID-19 * mortality   epidemiology   psychology   MeSH
• Depression * epidemiology   MeSH
• Adult MeSH
• Incidence MeSH
• Middle Aged MeSH
• Humans MeSH
• Cross-Sectional Studies MeSH
• SARS-CoV-2 MeSH
• Health Personnel * psychology   MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH

AIMS: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy. METHODS AND RESULTS: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation [n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2%] or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow-up of 96 months (interquartile range 5-311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end-stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end-diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow-up. CONCLUSIONS: DMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.

• MeSH
• Cardiomyopathy, Dilated * epidemiology   genetics   MeSH
• Adult MeSH
• Dystrophin genetics   MeSH
• Ventricular Function, Left MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Muscular Diseases * MeSH
• Prevalence MeSH
• Retrospective Studies MeSH
• Heart Failure * epidemiology   MeSH
• Stroke Volume MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

BACKGROUND: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS: We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited from 29 international centers. RESULTS: At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% ± 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of ≤35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS: MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare.

• MeSH
• Cardiomyopathy, Dilated * genetics   MeSH
• Adult MeSH
• Phenotype MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Ventricular Remodeling genetics   MeSH
• Arrhythmias, Cardiac complications   epidemiology   genetics   MeSH
• Cardiac Myosins genetics   MeSH
• Heart Failure * complications   genetics   MeSH
• Myosin Heavy Chains * genetics   MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH