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Estudo eletrofisiológico, histológico, histoquímico e ultraestrutural do miocárdio de pacientes com mutação do gene PRKAG2
(Faculdade Ciências Médicas de Minas Gerais, 2022-03-30) Oliveira, Carla; Stenick, Eduardo Back
Background: PRKAG2gene mutation, which encodes the ɣ2 subunitof protein kinase activated by adenosine monophosphate (AMPK), is an autossomic dominant inherited disease with early adulthoodclinical onset, characterized by pre-excitation, atrial tachyarrhythmias, atrioventricular conduction abnormalities and cardiac hypertrophy. Half of the patients will need pacemaker implantation. One tenth will have sudden death, before the fourth decade.Early detection of the condition is advisable to ensure adequate care. Genetic sequencingis considered the gold standard diagnostic test, but it is not available in the Brazilian “Sistema Único de Saúde”. The diagnostic efficacy of biopsy in identifying PRKAG2 cardiomyopathy remains to be assessed.Objectives: To evaluate the magnetic resonance imaging with T1 mapping, extracellular volume, and late gadolinium enhancement of PRKAG2 cardiomyopathy and assess thehistologic, histochemical, and ultrastructural findings of myocardium fragments of patients with PRKAG2 gene mutations harvested by percutaneous endomyocardium biopsy. To compare the diagnostic efficiencyof endomyocardial biopsy with genetic sequencing as a gold standard. Methodology: The first study was an observational cross-sectional analysis of 30 patients with PRKAG2 cardiomyopathy. The second study was a cross-sectional with case-control study. We included18patientswith PRKAG2mutations(Arg302Gln and His401Gln). Acontrol group comprised of biopsies of 11 recipients of a heart transplant (within 10 days), and another control group with3 patients with hypertrophic sarcomeric cardiomyopathy.A single patient had a pathogenic variant -MYL3 Ala57Asp. Next Generation Sequencing was carried out in the probands with PRKAG2 cardiomyopathy and hypertrophic cardiomyopathy, while family members underwent cascade Sanger sequencing. Results: LV hypertrophy was found in 16 individuals (53.3%). Myocardial thickness increased in 25 individuals (83.3%), severe in 9 (30%) and extreme in 3. Hypertrophy patterns as septal, apical, and diffuse, without outflow tract obstruction. T1 mapping and ECV were normal in all. LGE was found in 16.6% (5/30), all with severe hypertrophy(5/9) of those, as compared with 0/21 patients with mild or no hypertrophy (p=0.009).The myocardium fragments inPRKAG2cardiomyopathy showed a significant increase in cardiomyocyte diameter, pronounced vacuolation, absence of fibrosis, except in two patients, who had focal low intensity interstitial fibrosis, absence of architectural disarray, and absence of inflammatory infiltrates as compared with normal controls (post heart transplant).Transmission electron microscopy showed large amounts of glycogen granules in the cytosol, particularly in perinuclear region. Polls of glycogen were also seen in interfibrillar space and in subsarcolemmal regions. The large amount of glycogen observed in patients with PRKAG2cardiomyopathy was not seen in any of the controls. A composite of pathology features like pronounced vacuolation, absence of inflammation, fibrosis, and architectural disarray, together with large amounts of glycogen granules in the cytosol as seen in transmission electron microscopy, was able to identify all cases of genotyped PRKAG2cardiomyopathy, even those patients without clinical hypertrophy in echocardiogram. Conclusion: CMR with T1 mapping techniques may help identify xi PRKAG2patients among individuals with unexplained hypertrophy. Endomyocardial biopsy was as efficient as genetic sequencing in identifying PRKAG2 cardiomyopathy.
Rules protocol: como proceder em emergências durante cirurgia robótica
(Faculdade Ciências Médicas de Minas Gerais, 2022-04-25) Almeida, Thiago Fabrício Pereira de; Campos, Marcelo Esteves Chaves; Santos, Fernando Augusto de Vasconcellos
Introduction: As robotic surgery has expanded on it’s surgical application and it is also being noted a increase in surgical procedures complexity. In this context, the occurrence of emergency situations that require the conversion of the minimally invasive access route to open access routes is not uncommon. The urgent decoupling of the robotic platform is a complex and neglected process in robotic surgery training as it is nowadays Objective: To establish specific actions during a surgical procedure with the aid of the robotic platform in the face of emergency decoupling in a simulation environment. Method: Two surgery teams were submitted to a simulation environment in which there was a need for emergency decoupling of the robotic system. The intervention group (IG) underwent training with the RULES protocol and the control group (CG) could discuss among themselves without external intervention. Result: Decoupling time for the robotic platform from the IG was reduced by 66% and the CG by only 20%. Compared to the CG, in the second simulation, the IG acquired more critical actions necessary for decoupling and developed more non-technical skills after training with the RULES protocol. Conclusion: The RULES protocol proved to be effective, promoting an improvement in technical and non-technical skills of all surgical team menbers, resulting in more effective actions that resut in a coordinated and faster robotic undocking. It is also concluded that the surgeon and bed side surgeon are the key elements for the efficient robotic system undocking in emergency situations.
Avaliação do fluxo e satisfação de 233 pacientes com cateteres totalmente implantáveis em tratamento quimioterápico
(Faculdade Ciências Médicas de Minas Gerais, 2022-06-15) Cesar, Rodrigo Melo Moreira; Wainstein, Ana Paula Drummond Lage; Wainstein, Alberto Julius Alves
The fully implantable chemotherapy catheter has benefited cancer patients for many years. It is used in situations where there is a need for prolonged or permanent access to the vascular system. It has advantages such as reducing the risk of chemotherapy overflow in the subcutaneous tissue, and the possibility of doing chemotherapy at home and mainly to avoid multiple venous punctions and missing chemotherapy sections because lack of venous access. The implantation and use of catheters are, however, not immune to complications. This study aims to evaluate the use of venous access in cancer patients, related to the catheter flow and the general satisfaction of patients. The sample is composed of 233 patients diagnosed with cancer who underwent chemotherapy treatment through venous access through port-a-cath in the period between January 2015 and December 2019. 97% of the patients consulted were undergoing palliative chemotherapy, and 99.1% patients reported good satisfaction with the implantation process and treatment method. Regarding catheter flow according to venous return and drip during drug infusion, 98.7% individuals presented good flow. The results obtained by the research method used show that catheter flow was satisfactory in all implant sites observed and highlight the advantages of using a fully implanted catheter in view of the reduction of emotional factors that cause stress in cancer patients receiving chemotherapy, as well as the reduction of trauma and discomfort experienced by patients during the infusion of peripheral chemotherapy.
Avaliação da capacidade civil de indivíduos com demência: perfil de curatelados e concordância entre perícia médica e sentença judicial no Tribunal de Justiça de Minas Gerais
(Faculdade Ciências Médicas de Minas Gerais, 2022-03-15) Silva, Juliana Barbosa e; Ricardo, Laíss Bertola de Moura; Leopoldino, Amanda Aparecida de Oliveira
Introduction: The increase in the number of elderly people and their lifespan brings as a consequence the growth of diseases typical of this age group, such as dementia. This scenario may trigger a greater demand for guardianship requests from families of older people who have difficulties managing their own lives. The Brazilian Law for the Inclusion of Persons with Disabilities (LBIPD changed the disability regime. If the protection measures offered by the judiciary are insufficient, the desired protection may not occur or even put the person with dementia at risk, considering the course of the disease. Objectives: To verify the clinical, legal and social consequences brought about by the beginning of the LBIPD (Law nº 13.146/15) identified in the processes of guardianship of people with dementia. Identify the sociodemographic, clinical and legal profile of the person with dementia curated by the TJMG, between the period from January 1, 2016 to January 31, 2020. Investigate the level of agreement between the clinical diagnoses described in the expert report and in the court decision. Material and Methods: Retrospective cohort, composed of 165 lawsuits of individuals with dementia curated by the TJMG. The variables were described as measures of central tendency and variability. The Kappa coefficient was used to assess the agreement between the definition of clinical conditions and the conclusions about the limits of disability described in expert reports and court rulings. Results: A predominance of female elderly was identified, except for those under 60 years of age. The almost perfect agreement (Kappa coefficient 0.918, p<0.001) found between the clinical conditions indicated in the expert report and in the judicial sentence suggests that magistrates rely on expert reports to base their decisions. A poor degree of agreement (Kappa 0.05, p=0.083 after 2016) was found between the conclusions about the limits of incapacity described in the expert report and in the court decision. It is possible that the changes that took place in 2016 did not impact the experts' assessment and conclusion. Conclusion: Understanding expected outcomes for people with dementia, such as the occurrence of curatorship processes, is crucial for the instruction of public health policies, family members and judicial professionals. The identification of the profile of the curators and the agreement between clinical and legal aspects was a first step that made it possible to identify the need for greater alignment between clinical evidence on dementia and its impacts on judicial decisions. More detailed expert reports that address the assessment of civil capacity in the biopsychosocial context may produce a lower degree of discrepancy between experts. Clearer descriptions about the aspects related to the course of the neurodegenerative disease, the ―likely‖ possibilities and needs related to the subject's decision-making capacity, may favor the magistrates' understanding of dementia, contributing to the improvement of the jurisdictional provision.
Impacto do exame clínico objetivo estruturado sobre a ansiedade e parâmetros cardiovasculares
(Faculdade Ciências Médicas de Minas Gerais, 2022-12-13) Silva, Breno Augusto Ferreira; Lima, Isabela Maria Magalhães; Machado, Maria da Glória Rodrigues
Introduction: Arterial stiffness (AS) is a set of alterations that refer to the material properties of the arterial wall that generate functional consequences for the artery. Mental stress can be the trigger for a cardiac or cerebrovascular event. One of these is test anxiety. A well-known mental stressor in academic settings is the Objective Structured Clinical Examination (OSCE), the gold standard in assessing clinical aptitude and practical skills. On the other hand, it is considered an important cause of anxiety in an academic environment. Objectives: To evaluate the association between changes in cardiovascular parameters and degrees of anxiety in OSCE participants. To assess vascular, hemodynamic parameters and AS indices in OSCE participants. To assess the degree of anxiety of OSCE participants and to analyze whether there is an association with the degree of mindfulness and with personality traits. Material and Methods: Eighty-one OSCE participants from the medical course in the second semester of 2021 were evaluated. Baseline data were collected 30 days before the OSCE (T1). The second collection (T2) took place on the day of the OSCE, with 25 minutes left for the participant to start his exam. Cardiovascular parameters were non invasively assessed using the Mobil-O-Graph® – the Pulse Wave Analysis Monitor. Anxiety was measured using the State Trace Anxiety Inventory (STAI), short version. Mindfulness was measured using the Mindful Attention Awareness Scale (MAAS). Personality traits were assessed using the Big Five Personality Factors Inventory (BIG 5). Results: Peripheral vascular pressures (systolic, diastolic, mean and pulse blood pressure) and central (systolic, diastolic and pulse pressure) and hemodynamic parameters (systolic volume, cardiac index and heart rate) were significantly higher in the T2 moment of OSCE completion. Similarly, the AS parameters: global peripheral and central AS indices (pPP/SVi and cPP/SVi), reflection coefficient, augmentation index (AIx@75), pulse wave velocity (PWV) and pressure amplification pulses increased significantly at T2. The degree of state anxiety and total anxiety increased significantly at T2. Trait anxiety and total anxiety were negatively associated with mindfulness. Conclusion: The present study showed, for the first time, the elevation of the AR indexes AIx@75, PWV, PPp/iVS and PPc/iVS of the participants, suggesting xiii that the OSCE significantly altered the main AS parameters. Such alterations were measured both in the parameters that are associated with hemodynamics, and those that are related to the AS indices and arterial compliance of the great arteries. The study also suggested that the OSCE caused an increase in the degree of anxiety in its participants. There was no association between anxiety and personality traits, suggesting that personality is not a predictor of anxiety for the OSCE. Associations found between mindfulness and anxiety suggest that OSCE participants who perceive themselves more physically and mentally have less anxiety. No association was found between changes in cardiovascular parameters and degrees of anxiety at T1 and T2.
Impacto das transfusões sanguíneas precoces após o transplante renal na ocorrência de rejeições, função e sobrevida do enxerto
(Faculdade Ciências Médicas de Minas Gerais, 2022-10-26) Silva, Bernardo Duarte Pessoa de Carvalho; Oliveira, Raquel Aparecida Salustriano Fabreti de
Introduction: Kidney transplant is considered the gold standard treatment for end stage kidney disease. However, despite the advances in this area, rejections are still the main causes of graft loss in the first year post-transplant. Blood transfusions in the postoperative period of a kidney transplant may induce antibody formation, responsible for the antibody-mediated rejection (ABMR) episodes, thus a better understanding of these events and whether there is a relationship with poorer graft survival is needed. Objectives: To analyze the relationship between blood transfusions in the first month post-transplantation and the occurrence of rejections as well as the impact on kidney function, global and graft survival in one year. Material and methods: A retrospective cohort study conducted with 445 patients who underwent living and deceased kidney transplants at University Hospital of the Faculty of Medical Sciences between 2008 and 2018. The participants were divided between those who received transfusion in the first month post-transplant (BTG) and those who did not receive hemotransfusions in the same period (NBTG). They had a one-year follow-up to assess the occurrence of rejections, function and graft survival. Results: Stratifying the 445 patients, the BTG group was composed of 125 and the NBTG of 320 patients. Regarding the main outcomes, BTG patients had a higher occurrence of ABMR in the first year (13.60%) compared to NBTG (4.38%) (p<0.001). Transfused patients developed de novo donor specific antibodies (DSA) in a higher proportion than non-transfused patients (p<0.001) in the first year post-transplantation. Transfused patients maintained higher creatinine levels in the first and third post-transplant month (p=0.012 and 0.038, respectively). The graft survival rate was worse, with more first year failures (11.2%) in the BTG group than in the NBTG group (2.5%) (p<0.001). The predictive risk factors for de novo DSA formation at one year after transplantation were the number of HLA mismatches (OR 1.95, p=0.031), not receive induction immunotherapy before KT (OR 1.81, p=0.043) and having received blood transfusion after KT (OR 1.53, p=0.039). Mortality was higher in the BTG group (7.20%) than in the NBTG group (2.81%) (p=0.035). Conclusion: Blood transfusions in the first month after transplantation are related to a higher occurrence of ABMR, as well as a worsening of renal function, reduced graft survival rate and higher mortality in the first year after transplantation.
Caracterização funcional de idosos comunitários durante a pandemia por Covid-19 em uma capital brasileira
(Faculdade Ciências Médicas de Minas Gerais, 2023-10-05) Vieira, Maria Carolina Santos; Barbosa, Maira Tonidandel; Leopoldino, Amanda Aparecida de Oliveira
Objective: to compare functional behavior in elderly people aged over and under 85 years, considering a sample of community-dwelling older adults in a Brazilian capital during the COVID-19 pandemic. Methods: a cross-sectional study was carried out with self-administered questionnaires available through digital means, consisting of questions to assess the risk of functional decline, frailty, perception of the impact of social isolation on health and participation of the family member or caregiver in the daily activities of the participants. Results: 373 elderly people with a mean age of 76.8 9,4 years participated in this study. Most of the sample reported that health problems do not limit the performance of activities (63.5%), that their health problems do not force them to stay at home (77.7%) and that they do not regularly depend on walking devices (88.6%). There was a significant difference in the risk of functional decline: 22.5% in individuals aged 60-84 years old and 40.1% in individuals aged 85 years or older needed more care and support from their family members or caregivers to carry out their daily tasks. Conclusions: aging itself does not imply functional dependence, but is an important risk factor for that. In the present study, the group of elderly aged 85 years and older had a higher risk of functional decline, need for support and care from family members, use of walking aids and activity limitations. The data suggest that this group must be considered a priority in interventions to mitigate the impacts of social isolation during pandemic periods and in similar epidemiological, clinical and psychosocial circumstances.
Validação do questionário Duke Activity Status Index (DASI) para avaliação da capacidade funcional, por meio de contato telefônico, em indivíduos com Doença de Parkinson
(Faculdade Ciências Médicas de Minas Gerais, 2023-09-20) Thomazi, Maria Clara Bellavinha; Campelo, Raquel de Carvalho Lana; Leopoldino, Amanda Aparecida de Oliveira
Introduction: Parkinson's Disease (PD) is a chronic-degenerative and progressive disorder of the central nervous system, more prevalent in the elderly, characterized by both motor and non-motor changes. Given the decline in physical abilities and in carrying out activities of daily living, it is crucial to establish a suitable method for assessing functional capacity for this population. The Duke Activity Status Index (DASI) is an easily administered and low-cost questionnaire, capable of measuring the functional capacity of individuals. Currently, there are no studies validating the DASI in the PD population, especially through telephone calls. With the COVID-19 pandemic, there was a need to validate new ways of administering questionnaires, particularly remotely. Objective: To validate the DASI questionnaire for assessing the functional capacity of individuals with PD through telephone contact. Objective: To validate the DASI questionnaire for assessing the functional capacity of individuals with PD through telephone contact. Materials and Methods: This is a methodological study in which individuals diagnosed with PD were included. Sociodemographic and clinical data were initially obtained, and subsequently, the patients underwent the DASI on two occasions: face-to-face and by telephone, both conducted by the same examiner. To compare the mean differences in the total scores of the questionnaires administered face-to-face and by telephone, the Student's T-test was used, with a 95% confidence interval, to investigate the concurrent validity between the modes of application. The values obtained in each of the questionnaire items, administered face-to-face and by telephone, were compared using the Kappa coefficient. Results: Fifty-one PD patients were included in the study, with an average age of 66.9 (±8.5) years and an average diagnosis time of 106.7 (±65.0) months. No significant difference was observed between the averages of the scores obtained in both the face-to-face DASI application and via telephone contact (40.3±14.0 versus 40.7±13.5, respectively). Most of the questions showed substantial agreement (items 3, 5, 8, 10, and 12, 0.638 ≥ k ≤ 0.790) or almost perfect agreement (items 6, 7, and 9, 0.812 ≥ k ≤ 0.940) between the two DASI application routes, except for a single question which showed moderate agreement (item 11, k=0.497). Conclusions: The application of the DASI via telephone proved to be valid for assessing the functional capacity of individuals with PD.
Achados ecocardiográficos em crianças de pacientes com diagnóstico de síndrome do PRKAG2
(Faculdade Ciências Médicas de Minas Gerais, 2023-08-25) Santos Neto, Dinamar Amador; Pena, José Luiz Barros
Background: PRKAG2 syndrome typically manifests in adolescence and early adulthood along with left ventricular hypertrophy, arrhythmias, and increased risk of sudden death. Echocardiographic marker findings before clinical manifestation in children of PRKAG2 parents can facilitate prevention strategies and therapeutic planning. Objective: Identify the existence of early echocardiographic findings in asymptomatic children of PRKAG2 parents. Methods: Cross-sectional observational study of seven children, aged between 9 months and 12 years, of PRKAG2 parents was compared to a control group matched by sex and age with no cardiovascular disease. All children underwent conventional and advanced echocardiographic techniques. Results: Conventional echocardiography showed higher values with statistical significance in the case group for left atrium, interventricular septum, left ventricular posterior wall, indexed ventricular mass, and relative wall thickness. Global longitudinal strain obtained from the two-dimensional examination showed no statistical significance between the groups. None of the parameters on the three dimensional echocardiogram showed statistical significance between the groups. Conclusion: Children diagnosed with PRKAG2 presented echocardiographic findings suggestive of a tendency to cardiac hypertrophy. Echocardiography can be a useful tool in the evaluation and follow-up of these patients before the onset of clinical manifestations.
Comportamento alimentar, qualidade de vida e risco cardiovascular em crianças e adolescentes com obesidade e sobrepeso
(Faculdade Ciências Médicas de Minas Gerais, 2024-03-28) Santos, Fernanda Gabriela Colombo Drumond; Machado, Maria da Glória Rodrigues; Rezende, Bruno Almeida
INTRODUCTION: Eating habits are closely relate to the development of chronic diseases throughout life, such as obesity, diabetes, high blood pressure, dyslipidemia, among others. Adequate eating education and behavior contribute to good health and quality of life. Epidemiological studies show the increased occurrence of arterial hypertension during childhood and adolescence, probably due to the association of being overweight, obesity and lack of physical activity. OBJECTIVE: Evaluate the relationships between eating behaviors and their impact in body composition of children and teenagers, as well as possible association with quality of life (QoL) and early indicators of cardiovascular risk. METHODS: This is a transversal and observational that study which evaluated anthropometric, cardiovascular, QoL, and eating behavior parameters of 181 healthy children and teenagers, of both genders, and between the ages of 5 to 13, who are enrolled in the public education system in Belo Horizonte city, Minas Gerais, Brazil. They were fitted in three groups regarding body composition: Normal Weight, Overweight, and Obese. To determine these groups, the z-score for age-based body mass index (IMC/I) was used, and the children were classified according to the cutoff scores proposed by the World Health Organization (WHO). Anthropometry included weight, height, waist and hip circumferences, waist-hip ratio, and waist-height ratio. QoL was assessed using the Peds-QL 4.0 questionnaire, and eating behavior was assessed using the Children’s Eating Behaviour Questionnaire (CEBQ). Cardiovascular parameters were assessed using the Mobil-O-Graph® device, which measures the pulse wave velocity (PWV) and augmentation index (AIx@75) to estimate arterial stiffness (AS), which is considered an early marker of cardiovascular disease. RESULTS: In addition to the increase in anthropometric measurements (p < 0.001), the Obesity group exhibited behaviour related to food intake (p < 0.05). When analyzing QoL, a worsening in the social domain was also observed in the Obesity group (p < 0.05). However, PWV and AIx@75 did not differ between groups. CONCLUSION: Eating behaviour is related to the development of childhood obesity. However, early markers of cardiovascular risk related to AS did not change as a function of body composition in the children evaluated.

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