Sarcoma ósseo secundário da Doença de Paget: Secondary bone sarcoma of Paget's disease

Resumo INTRODUÇÃO: A Doença de Paget é uma doença crônica inflamatória do osso. A degeneração sarcomatosa dessa doença é rara, chegando a 1% e o tipo histológico mais comum é o osteossarcoma. APRESENTAÇÃO DO CASO: Paciente com 66 anos, masculino, com diagnóstico de Doença de Paget há 20 anos, apresenta deformidade em fêmur direito, relata piora da dor há 5 meses. Radiografia com sinais de malignidade confirmados na RNM, na qual havia expansão das partes moles, ruptura da cortical óssea com osteólise agressiva. Histopatológico confirmando osteossarcoma. DISCUSSÃO: A Doença de Paget é um distúrbio ósseo crônico que resulta na renovação óssea acelerada e desordenada, acomete, principalmente, o esqueleto axial, o crânio, os fêmures e as tíbias. A maioria dos pacientes com Doença de Paget é assintomática, sendo o diagnóstico, muitas vezes, tardio e acidental. É a segunda doença osteometabólica mais comum, ficando atrás da osteoporose. A doença de Paget afeta cerca de 3-4% da população acima dos 40 anos de idade, sendo que sua prevalência aumenta com a idade. O osteossarcoma secundário à doença de Paget é raro, estima-se que ocorra em menos de 1% das pessoas com doença óssea de Paget. Dor, edema e fratura são manifestações iniciais. Achados radiográficos iniciais geralmente mostram uma lesão lítica em expansão no osso. O tratamento do osteossarcoma secundário à Doença de Paget é principalmente cirúrgico que pode envolver a combinação de quimioterapia. A presença de comorbidades em idosos limita o uso da quimioterapia. Quando indicada, a quimioterapia geralmente é neoadjuvante e em terapia adjuvante CONCLUSÃO: Compreende-se que a Doença de Paget acomete principalmente idosos e que o prognóstico é ruim tanto em pacientes sintomáticos como em assintomáticos, devido a inflamação óssea e risco de evolução para osteossarcoma, porém o diagnóstico precoce pode trazer benefícios aos pacientes no controle da dor e com tratamentos mais conservadores, evitando a necessidade de amputações, com melhoria na qualidade de vida

Síndrome de fraser : Fraser syndrome

Introdução: a Síndrome de Fraser é caracterizada por presença de criptoftalmo, sindactilia, anormalidades da genitália e outras malformações congênitas do nariz, ouvido ou laringe, defeitos esqueléticos, hérnia umbilical, agenesia renal e retardo mental. É uma expressão fenotípica que depende da consanguinidade dos pais. Apresentação do caso: paciente do sexo feminino, três meses de idade, em acompanhamento no centro de referência oftalmológica da Faculdade de Medicina da Universidade São Paulo. Na ultrassonografia de abdome total, foi apenas evidenciada presença de hérnia umbilical simples. Discussão: a prevalência é igual entre os sexos e a doença pode ser diagnosticada à ultrassonografia pré-natal e fetoscopia ou no momento do nascimento frente às alterações apresentadas pelo paciente, por critérios maiores e menores. O tratamento é multidisciplinar e dependente das malformações presentes, assim como o prognóstico, que é pior em casos de malformações urogenitais e laríngeas graves. Conclusão: os médicos devem estar atentos, para as manifestações clínicas e o diagnóstico preciso, oferecendo tratamento adequado e aconselhamento genético aos casais

The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance

INTRODUCTION Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic. RATIONALE We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs). RESULTS Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants. CONCLUSION Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century

Global variation in postoperative mortality and complications after cancer surgery: a multicentre, prospective cohort study in 82 countries

© 2021 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY-NC-ND 4.0 licenseBackground: 80% of individuals with cancer will require a surgical procedure, yet little comparative data exist on early outcomes in low-income and middle-income countries (LMICs). We compared postoperative outcomes in breast, colorectal, and gastric cancer surgery in hospitals worldwide, focusing on the effect of disease stage and complications on postoperative mortality. Methods: This was a multicentre, international prospective cohort study of consecutive adult patients undergoing surgery for primary breast, colorectal, or gastric cancer requiring a skin incision done under general or neuraxial anaesthesia. The primary outcome was death or major complication within 30 days of surgery. Multilevel logistic regression determined relationships within three-level nested models of patients within hospitals and countries. Hospital-level infrastructure effects were explored with three-way mediation analyses. This study was registered with ClinicalTrials.gov, NCT03471494. Findings: Between April 1, 2018, and Jan 31, 2019, we enrolled 15 958 patients from 428 hospitals in 82 countries (high income 9106 patients, 31 countries; upper-middle income 2721 patients, 23 countries; or lower-middle income 4131 patients, 28 countries). Patients in LMICs presented with more advanced disease compared with patients in high-income countries. 30-day mortality was higher for gastric cancer in low-income or lower-middle-income countries (adjusted odds ratio 3·72, 95% CI 1·70–8·16) and for colorectal cancer in low-income or lower-middle-income countries (4·59, 2·39–8·80) and upper-middle-income countries (2·06, 1·11–3·83). No difference in 30-day mortality was seen in breast cancer. The proportion of patients who died after a major complication was greatest in low-income or lower-middle-income countries (6·15, 3·26–11·59) and upper-middle-income countries (3·89, 2·08–7·29). Postoperative death after complications was partly explained by patient factors (60%) and partly by hospital or country (40%). The absence of consistently available postoperative care facilities was associated with seven to 10 more deaths per 100 major complications in LMICs. Cancer stage alone explained little of the early variation in mortality or postoperative complications. Interpretation: Higher levels of mortality after cancer surgery in LMICs was not fully explained by later presentation of disease. The capacity to rescue patients from surgical complications is a tangible opportunity for meaningful intervention. Early death after cancer surgery might be reduced by policies focusing on strengthening perioperative care systems to detect and intervene in common complications. Funding: National Institute for Health Research Global Health Research Unit

Effects of hospital facilities on patient outcomes after cancer surgery: an international, prospective, observational study

© 2022 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licenseBackground: Early death after cancer surgery is higher in low-income and middle-income countries (LMICs) compared with in high-income countries, yet the impact of facility characteristics on early postoperative outcomes is unknown. The aim of this study was to examine the association between hospital infrastructure, resource availability, and processes on early outcomes after cancer surgery worldwide. Methods: A multimethods analysis was performed as part of the GlobalSurg 3 study—a multicentre, international, prospective cohort study of patients who had surgery for breast, colorectal, or gastric cancer. The primary outcomes were 30-day mortality and 30-day major complication rates. Potentially beneficial hospital facilities were identified by variable selection to select those associated with 30-day mortality. Adjusted outcomes were determined using generalised estimating equations to account for patient characteristics and country-income group, with population stratification by hospital. Findings: Between April 1, 2018, and April 23, 2019, facility-level data were collected for 9685 patients across 238 hospitals in 66 countries (91 hospitals in 20 high-income countries; 57 hospitals in 19 upper-middle-income countries; and 90 hospitals in 27 low-income to lower-middle-income countries). The availability of five hospital facilities was inversely associated with mortality: ultrasound, CT scanner, critical care unit, opioid analgesia, and oncologist. After adjustment for case-mix and country income group, hospitals with three or fewer of these facilities (62 hospitals, 1294 patients) had higher mortality compared with those with four or five (adjusted odds ratio [OR] 3·85 [95% CI 2·58–5·75]; p<0·0001), with excess mortality predominantly explained by a limited capacity to rescue following the development of major complications (63·0% vs 82·7%; OR 0·35 [0·23–0·53]; p<0·0001). Across LMICs, improvements in hospital facilities would prevent one to three deaths for every 100 patients undergoing surgery for cancer. Interpretation: Hospitals with higher levels of infrastructure and resources have better outcomes after cancer surgery, independent of country income. Without urgent strengthening of hospital infrastructure and resources, the reductions in cancer-associated mortality associated with improved access will not be realised. Funding: National Institute for Health and Care Research