Telemedicine in Brazil: Teleconsultations at the Largest University Hospital in the Country.

The coronavirus disease (COVID-19) pandemic leveraged telemedicine worldwide mainly due to the need for social distancing, patient safety, and infection prevention. The Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP) was a key reference site in the treatment of COVID-19 severe cases in the country. To continue patient's health care, it became necessary to increase the number of teleconsultations and standardize it institutionally. Herein, we briefly described how the HCFMUSP improved the teleconsultation health care service during the COVID-19 pandemic, highlighting the implementation of important innovations and the throughout standardization process, including patients and professional workflow. We also detailed the methodology used to implement or improve teleconsultation in a medical/multidisciplinary specialty at HCFMUSP. All these efforts made the HCFMUSP reach the goal of converting 15% of all face-to-face consultations into teleconsultations only in 2021. In addition, there were more than 370,000 teleconsultations until the end of 2022. Our experience has shown that having a supporting team, a digital certification process, and the data integration were key factors toward the successful implementation of the teleconsultation services. We believe that progressing toward teleconsultation will improve the population covered by health care services in Brazil, as well as contribute to a reduction of waiting time, and solving costs to health care institutions and patients. We expect this report of our experience in teleconsultation implementation could inspire and guide other health care institutions in the development of telemedicine.

Tele-Intensive Care Unit Program in Brazil: Implementation and Expansion.

In this scientific report, we aimed to describe the implementation and expansion of a Tele-Intensive Care Unit (Tele-ICU) program in Brazil, highlighting the pillars of success, improvements, and perspectives. Tele-ICU program emerged during the COVID-19 pandemic at the Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), focusing on clinical case discussions and training of health practitioners in public hospitals of the state of São Paulo in Brazil, to support health care professionals for treating COVID-19 patients. The success of implementing this initiative endorsed the project expansion to other five hospitals from different macroregions of the country, leading to the Tele-ICU-Brazil. These projects assisted 40 hospitals, allowing more than 11,500 teleinterconsultations (exchange of medical information between health care professionals using a licensed online platform) and training more than 14,800 health care professionals, reducing mortality and length of hospitalized patients. A segment in telehealth for the obstetrics health care was implemented after detecting these were a susceptible group of patients to COVID-19 severity. As a perspective, this segment will be expanded to 27 hospitals in the country. The Tele-ICU projects reported here were the largest digital health ICU programs ever established in Brazilian National Health System until know. Their results were unprecedented and proved to be crucial for supporting health care professionals nationwide during the COVID-19 pandemic and guide future initiatives in digital health in Brazil's National Health System.

Haemochromatosis revisited.

Haemochromatosis is a genetic disease caused by hepcidin deficiency, responsible for an increase in intestinal iron absorption. Haemochromatosis is associated with homozygosity for the HFE p.Cys282Tyr mutation. However, rare cases of haemochromatosis (non-HFE haemochromatosis) can also be caused by pathogenic variants in other genes (such as HJV, HAMP, TFR2 and SLC40A1). A working group of the International Society for the Study of Iron in Biology and Medicine (BIOIRON Society) has concluded that the classification based in different molecular subtypes is difficult to be adopted in clinical practice and has proposed a new classification approaching clinical questions and molecular complexity. The aim of the present review is to provide an update on classification, pathophysiology and therapeutic recommendations.

Brazilian family with hyperferritinemia-cataract syndrome: case report.

Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5' untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagnosis of hereditary hyperferritinemia-cataract syndrome, which was submitted to ferritin light chain gene sequencing. The genetic mutation c.-164C>G was identified in the 5' untranslated region. In conclusion, genetic testing can be used for accurate diagnosis of hereditary hyperferritinemia-cataract syndrome to avoid misdiagnosis of hemochromatosis, other diseases associated with iron overload or ophthalmic diseases.

Quality of Life Scores Remained Different among the Genotypic Groups of Patients with Suspected Hemochromatosis, Even after Treatment Period.

BACKGROUND: Hemochromatosis is a genetic condition of iron overload caused by deficiency of hepcidin. In a previous stage of this study, patients with suspected hemochromatosis had their quality of life (QL) measured. We observed that QL scores differed among genotypic groups of patients. In this reported final phase of the study, the aims were to compare QL scores after a treatment period of approximately 3 years and to analyze a possible association of the serum ferritin values with QL scores. METHODS: Sixty-five patients were enrolled in this final phase and divided into group 1 (patients that showed primary iron overload and homozygous genotype for the HFE p.Cys282Tyr mutation) and group 2 (other kinds of genotypes). Short Form 36 (SF-36) was performed and consisted of eight domains with a physical and also a mental component. RESULTS: Both groups had a significant decrease in serum ferritin concentrations: group 1 had a variation from 1844 ± 1313 ng/mL to 281 ± 294 ng/mL, and group 2 had a variation from 1216 ± 631 ng/mL to 236 ± 174 ng/mL. Group 1 had a smaller mean value for these six SF-36 domains compared with group 2, indicating a worse QL. CONCLUSIONS: In this final stage, six domains demonstrated a difference among genotypic groups (role emotional and mental health, adding to the four of the initial phase), reassuring the impact of the identified genotype on the QL of hemochromatosis patients. Furthermore, despite that both patient groups demonstrated similar and significant decreases in serum ferritin values, no association was found between the decrease in this biological parameter and the SF-36 domains.

HFE hemochromatosis: an overview about therapeutic recommendations

Abstract Hemochromatosis is currently characterized by the iron overload caused by hepcidin deficiency. Large advances in the knowledge on the hemochromatosis pathophysiology have occurred due to a better understanding of the protein of the iron metabolism, the genetic basis of hemochromatosis and of other iron overload diseases or conditions which can lead to this phenotype. In the present review, the main aims are to show updates on hemochromatosis and to report a practical set of therapeutic recommendations for the human factors engineering protein (HFE) hemochromatosis for the p.Cys282Tyr (C282Y/C282Y) homozygous genotype, elaborated by the Haemochromatosis International Taskforce.

HFE hemochromatosis: an overview about therapeutic recommendations.

Hemochromatosis is currently characterized by the iron overload caused by hepcidin deficiency. Large advances in the knowledge on the hemochromatosis pathophysiology have occurred due to a better understanding of the protein of the iron metabolism, the genetic basis of hemochromatosis and of other iron overload diseases or conditions which can lead to this phenotype. In the present review, the main aims are to show updates on hemochromatosis and to report a practical set of therapeutic recommendations for the human factors engineering protein (HFE) hemochromatosis for the p.Cys282Tyr (C282Y/C282Y) homozygous genotype, elaborated by the Haemochromatosis International Taskforce.

Brazilian family with hyperferritinemia-cataract syndrome: case report

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5' untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagnosis of hereditary hyperferritinemia-cataract syndrome, which was submitted to ferritin light chain gene sequencing. The genetic mutation c.-164C>G was identified in the 5' untranslated region. In conclusion, genetic testing can be used for accurate diagnosis of hereditary hyperferritinemia-cataract syndrome to avoid misdiagnosis of hemochromatosis, other diseases associated with iron overload or ophthalmic diseases.

Novel mutations in the bone morphogenetic protein 6 gene in patients with iron overload and non-homozygous genotype for the HFE p.Cys282Tyr mutation.

BACKGROUND: Five main genes are associated with hemochromatosis; however, current studies show that, in addition to these genes, others may be associated with primary iron overload (IO). One of these is the bone morphogenetic protein 6 (BMP6), which encodes a protein that modulates hepcidin synthesis and, consequently, iron homeostasis. AIM: To identify BMP6 gene pathogenic variants in patients with IO and non-homozygous genotype for the HFE p.Cys282Tyr mutation. MATERIALS AND METHODS: Fifty-three patients with primary IO and non-homozygous genotype for the HFE p.Cys282Tyr were selected. Subsequent bidirectional DNA sequencing of BMP6 exons was performed. RESULTS: Two novel variants were found. One at homozygous state p.Gln158Ter (c.472C>T) was pathogenic, the other one at heterozygous state p.Val394Met (c.1180G>A) was of uncertain significance (VUS); the third variant at heterozygous state p.Arg257His (c.770G>A) has already been described and associated with IO. No BMP6 pathogenic variants that would explain iron overload phenotypes were detected in 94% of the studied patients. CONCLUSION: Identification of the BMP6 pathogenic variants in Brazilian patients with primary IO might contribute to the genetic understanding of this phenotype.

Estrogen receptor α polymorphism is associated with dementia in a Brazilian cohort.

The growth of the elderly population is a worldwide phenomenon and it is associated with chronic diseases, including dementia. In this scenario, the present study aimed to evaluate a possible association of estrogen receptor α polymorphisms with dementia in a Brazilian cohort. The subject sample was divided into two groups, control (n = 105) and case (n = 73), according to analysis of two predictive dementia tests (MMSE and CDR). The genotyping for the ERα PvuII (c.454-397T>C, rs2234693) and XbaI (c.454-351A>G, rs9340799) polymorphisms were performed by polymerase chain reaction-restriction fragment length polymorphism. The ERα PvuII pp genotype was associated with higher odds ratio for dementia (OR = 3.42, 95% CI = 1.33-8.77, p = 0.01, in a model including covariates. A linear regression model identified significant associations of the ERα PvuII genotypes (independent variable) with CDR scale (dependent variable), ß = 0.26 and p = 0.001. In conclusion, estrogen receptor α PvuII polymorphism is associated with dementia in a Brazilian cohort. This finding may be useful for the identification of a possible set of significant genetic and clinical biomarkers for better understanding pathophysiology, early diagnosis and management of dementia.

Do we underestimate the impact of roads on arboreal animals? Roadkill as an important threat to Chaetomys subspinosus (Mammalia: Rodentia) / Estaríamos subestimando o impacto de estradas sobre espécies arborícolas? Atropelamento de fauna como uma importante ameaça para Chaetomys subspinosus (Mammalia: Rodentia)

Abstract: The Thin-spined Porcupine (Chaetomys subspinosus) is a medium-sized and mainly arboreal rodent, endemic to the Brazilian Atlantic Forest, and threatened with extinction. Habitat loss, hunting, forest fires, agriculture and livestock are threats identified for the species. Here we raise the alert to the impact of roads on remaining populations of C. subspinosus based on roadkill records from the state of Espírito Santo, southeastern Brazil. Mortality due to roadkill is likely to impact C. subspinosus in different regions of the state, and is a widespread problem, not unique to a single location or population. The pattern of roadkills in the studied regions suggest that the species is more susceptible to collisions with vehicles in the breeding period. Additionally, concrete barriers that divide lanes on highways seens to increase the likelihood of roadkill for Thin-spined Porcupines. We recommend that roadkill should be included in the list of threats to C. subspinosus in the Espírito Santo. Mortality due to roadkill is probably relevant also for populations in the states of Bahia and Sergipe, and it should be evaluated locally. The installation of road-crossing structures for wildlife, such as arboreal overpasses, is recommended on roads crossing or close to protected areas with C. subspinosus presence in Espírito Santo and elsewhere.

Resumo: O ouriço-preto (Chaetomys subspinosus) é um roedor essencialmente arborícola, de médio porte, endêmico da Mata Atlântica brasileira. Atualmente está classificado como Vulnerável à extinção. Perda de habitat, caça, incêndios florestais, agricultura e pecuária são identificados como ameaças para a espécie. A presente comunicação alerta para o impacto de estradas sobre as populações remanescentes de C. subspinosus com base em registros de atropelamento obtidos no estado do Espírito Santo, sudeste do Brasil. Os registros aqui apresentados indicam que a morte de espécimes devido a atropelamentos afeta populações de C. subspinosus em diferentes regiões do estado, sendo um problema generalizado, não consistindo em ameaça para uma única localidade ou população. O padrão observado nas regiões estudadas sugere que a espécie é mais suscetível a atropelamentos durante o período reprodutivo. Além disso, a presença de barreiras de concreto dividindo as faixas das rodovias parece aumentar a ocorrência de atropelamentos de ouriços-pretos. Recomenda-se que o atropelamento de espécimes seja incluído entre as ameaças à conservação de C. subspinosus no Espírito Santo, podendo representar uma ameaça relevante para a espécie também nos estados da Bahia e Sergipe, o que deve ser avaliado localmente. A instalação de estruturas para transposição rodoviária pela fauna, como passagens aéreas, é recomendada para estradas que atravessam ou que estão associadas a áreas protegidas com confirmação da presença de C. subspinosus no Espírito Santo e em outros estados.

Factors associated with abnormalities of the cytopathological uterine cervix test in South of Brazil / Fatores associados a alterações do exame citopatológico cérvico-uterino no Sul do Brasil

Abstract Objectives: to identify factors associated with abnormal cytopathological test uterine cervix. Methods: it is a analytical study with the participation of 390 women who presented abnormal cytopathological from a city in the state of Paraná in 2012. They were randomly selected through sampling plan. Sociodemographic information such as age, marital status, education level and ethnicity were considered independent variables while the high or low-grade cytological lesions as dependent variable. We analyzed the data statistically by Yates Corrected test, Fisher exact test and measures of association by odds ratio. For all analyzes was considered significance level of 5% and 95% confidence interval. Results: the mean age was 38.8 years, 72.9% were married or common-law marriage, 49.7% with low education level and 87.4% race/color white. HPV contamination was detected in 49.7% of women and high-grade cytological lesions in 18.2%. The low educa-tional level (95%OR=4.07) and non-white ethnicity (95%OR=2.22) were strongly associated with the development to cervical lesions (p<0.05). Conclusions: sociodemoghaphic characteristics were crucial to high-risk lesions and development of cervical cancer, especially in women with low educational level and race/color black or brown. These results confirm the persistence of diseases related to preventable and avoidable causes in the country.

Resumo Objetivos: identificar os fatores associados com alterações do exame citopatológico cérvico-uterino. Métodos: trata-se de um estudo analítico com participação de 390 mulheres que apresen-taram alterações citopatológicas em município do Estado do Paraná no período de 2012. Elas foram selecionadas aleatoriamente através de plano amostral. Informações sociode-mográficas como idade, estado civil, grau de escolaridade e etnia foram consideradas variáveis independentes enquanto que o alto ou baixo grau de lesão citológica como variável dependente. Analisaram-se os dados estatisticamente pelos Testes de Yates corrigido e Fisher e medidas de associação pela odds ratio. Para todas as análises considerou nível de significância de 5% e intervalo de confiança 95%. Resultados: a idade média foi de 38,8 anos sendo a maioria casada ou união estável (72,8%) e com baixa escolaridade (42,8%) e raça/cor branca (87,4%). A contaminação pelo HPV foi detectada em 49,7% das mulheres e lesões citológicas de alto grau em 18,2%. A baixa escolaridade (OR95%=4,07) e etnia não branca (OR95%=2,22) estiveram fortemente associadas ao desenvolvimento às lesões de colo uterino (p<0,05). Conclusão: características sociodemográficas foram determinantes para lesões de alto risco e desenvolvimento de câncer de colo uterino, especialmente nas mulheres de baixa escolaridade e raça/cor negra ou parda. Estes resultados confirmam a persistência de doenças por causas evitáveis e reduzíveis no país.

Implementação da busca ativa na prevenção do câncer de colo uterino na UBS Belvedere, Pará de Minas - MG

O câncer de colo de útero é o segundo câncer mais prevalente entre mulheres, responsável por milhares de óbitos anuais, porém quando precocemente detectado tem imensas chances de cura. A detecção precoce do câncer e de suas lesões precursoras se dá pelo exame Papanicolau. Exame simples, eficiente e de baixo custo que possibilita um rastreamento de até 80 % dos casos de câncer de colo uterino e se forem tratadas as lesões iniciais de forma correta, a taxa de redução de câncer colo uterino pode chegar a 90 %. Deve ser oferecido às mulheres na faixa etária de 25 a 64 anos e que já tiveram atividade sexual. Uma das diversas funções da unidade básica de saúde é a coleta de material para o exame de citopatologia oncótica, ou seja, o exame Papanicolau, que deve ser realizada rotineiramente, conforme preconização do Ministério da Saúde. Sabe-se, entretanto, que muitas pacientes negligenciam tal coleta ficando períodos longos sem se submeterem ao exame. Assim, uma forma de contornar essa situação seria a busca ativa das pacientes que estariam no momento de fazer um novo exame de prevenção do câncer de colo de útero. Pretende-se aplicar uma planilha cadastrando as mulheres pertencentes a UBS Belvedere a fim de realizar a busca ativa das mesmas para coleta do exame preventivo de câncer de colo uterino e identificar a frequência em que as mulheres realizam este exame. Além disso, identificar a faixa etária que tem maior e menor assiduidade na coleta do Papanicolau