Sarcoma epitelióide: aspectos clínicos, fatores prognósticos e sobrevida

OBJETIVO: Descrever os aspectos epidemiológicos, clínicos, o tratamento e o prognóstico dos pacientes com sarcoma epitelióide. MÉTODOS: Revisão do prontuário de 25 pacientes matriculados no INCA com o diagnóstico de sarcoma epitelióide, no período de 05 de junho de 1987 à 15 de julho de 2005. RESULTADOS: A idade mediana foi de 33 anos, variando de 10 à 70 anos. A localização primária mais freqüente foi os membros superiores em doze casos (48%). O tamanho do tumor foi descrito em 19 casos e a mediana foi de 5cm, variando de 1,5 à 15cm. A cirurgia foi realizada em dezessete pacientes com onze amputações. As margens cirúrgicas estavam livres em quinze pacientes, comprometidas em três e em sete não foram relatadas. Seis receberam tratamento com algum tipo de quimioterapia e quatorze receberam tratamento com radioterapia com dose mediana de 46,5Gy. Recidiva local ocorreu em treze casos (52%). Recidiva nodal foi diagnosticada em nove pacientes (36%). Metástase pulmonar foi diagnosticada em sete pacientes (28%). Seis pacientes realizaram o tratamento oncológico na sua totalidade no INCA. Atualmente doze estão vivos sem doença, dois estão vivos com doença e onze pacientes foram a óbito. CONCLUSÃO: O sarcoma epitelióide é um subtipo raro de sarcoma de partes moles que apresenta alta taxa de recidiva local, regional e metástase à distância. Incide principalmente nas extremidades de pacientes jovens. O tratamento cirúrgico consiste em ressecção alargada com margens livres

COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

Background: The ISARIC prospective multinational observational study is the largest cohort of hospitalized patients with COVID-19. We present relationships of age, sex, and nationality to presenting symptoms. Methods: International, prospective observational study of 60 109 hospitalized symptomatic patients with laboratory-confirmed COVID-19 recruited from 43 countries between 30 January and 3 August 2020. Logistic regression was performed to evaluate relationships of age and sex to published COVID-19 case definitions and the most commonly reported symptoms. Results: ‘Typical’ symptoms of fever (69%), cough (68%) and shortness of breath (66%) were the most commonly reported. 92% of patients experienced at least one of these. Prevalence of typical symptoms was greatest in 30- to 60-year-olds (respectively 80, 79, 69%; at least one 95%). They were reported less frequently in children (≤ 18 years: 69, 48, 23; 85%), older adults (≥ 70 years: 61, 62, 65; 90%), and women (66, 66, 64; 90%; vs. men 71, 70, 67; 93%, each P < 0.001). The most common atypical presentations under 60 years of age were nausea and vomiting and abdominal pain, and over 60 years was confusion. Regression models showed significant differences in symptoms with sex, age and country. Interpretation: This international collaboration has allowed us to report reliable symptom data from the largest cohort of patients admitted to hospital with COVID-19. Adults over 60 and children admitted to hospital with COVID-19 are less likely to present with typical symptoms. Nausea and vomiting are common atypical presentations under 30 years. Confusion is a frequent atypical presentation of COVID-19 in adults over 60 years. Women are less likely to experience typical symptoms than men

Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1

ABSTRACT Objective In this study, we review the institution’s experience in treating malignant peripheral nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between MPNSTs with and without neurofibromatosis type 1 (NF1). Methods Ninety-two patients with MPNSTs, over a period of 20 years, were reviewed. A retrospective chart review was performed. The median age was 43.5 years (range, 3–84 years) and 55.4% were female; 41 patients (44.6%) had NF1-associated tumors. Results Mean tumor sizes were 15.8 ± 8.2 cm and 10.8 ± 6.3 cm for patients with and without NF1, respectively. Combined two- and five-year overall survival was 48.5% and 29%. Multivariate analysis confirmed the association of tumor size greater than 10 cm (hazard ratio (HR) 2.99; 95% confidence interval (CI) 1.14–7.85; p = 0.0258) and presence of NF1 (HR 3.41; 95%CI 1.88–6.19; p < 0.001) with a decreased overall survival. Conclusion Tumor size and NF1 status were the most important predictors of overall survival in our population

Sarcoma epitelióide: aspectos clínicos, fatores prognósticos e sobrevida

OBJETIVO: Descrever os aspectos epidemiológicos, clínicos, o tratamento e o prognóstico dos pacientes com sarcoma epitelióide. MÉTODOS: Revisão do prontuário de 25 pacientes matriculados no INCA com o diagnóstico de sarcoma epitelióide, no período de 05 de junho de 1987 à 15 de julho de 2005. RESULTADOS: A idade mediana foi de 33 anos, variando de 10 à 70 anos. A localização primária mais freqüente foi os membros superiores em doze casos (48%). O tamanho do tumor foi descrito em 19 casos e a mediana foi de 5cm, variando de 1,5 à 15cm. A cirurgia foi realizada em dezessete pacientes com onze amputações. As margens cirúrgicas estavam livres em quinze pacientes, comprometidas em três e em sete não foram relatadas. Seis receberam tratamento com algum tipo de quimioterapia e quatorze receberam tratamento com radioterapia com dose mediana de 46,5Gy. Recidiva local ocorreu em treze casos (52%). Recidiva nodal foi diagnosticada em nove pacientes (36%). Metástase pulmonar foi diagnosticada em sete pacientes (28%). Seis pacientes realizaram o tratamento oncológico na sua totalidade no INCA. Atualmente doze estão vivos sem doença, dois estão vivos com doença e onze pacientes foram a óbito. CONCLUSÃO: O sarcoma epitelióide é um subtipo raro de sarcoma de partes moles que apresenta alta taxa de recidiva local, regional e metástase à distância. Incide principalmente nas extremidades de pacientes jovens. O tratamento cirúrgico consiste em ressecção alargada com margens livres

Efeito do extrato de Passiflora edulis na cicatrização da parede abdominal de ratos: estudo morfológico e tensiométrico Passiflora edulis extract and the healing of abdominal wall of rats: morphological and tensiometric study

INTRODUÇÃO: O emprego de plantas no tratamento de diversas moléstias é costumeiro no Brasil. O maracujá (Passiflora edulis) é muito empregado em diversas afecções, freqüentemente sem comprovação científica. Foram descritas propriedades antiinflamatórias do extrato de Passiflora edulis, semelhantes às dos antiinflamatórios não esteroidais (AINE's). OBJETIVO: Avaliar morfológica e tensiometricamente o efeito do extrato hidroalcoólico de Passiflora edulis no processo de cicatrização de laparotomias medianas em ratos. MÉTODOS: Quarenta ratos Wistar, divididos em dois grupos de 20, foram submetidos à incisão e sutura da linha alba. Em 20 deles, grupo controle (GC), administrou-se solução salina na cavidade peritonial. Nos outros 20, grupo Passiflora (GP), administrou-se extrato de Passiflora edulis na cavidade peritonial, em dose única, isovolumétrica. O extrato foi obtido por extração alcoólica das folhas secas do maracujá. Os grupos controle e Passiflora foram subdivididos em dois, conforme o dia da morte: grupo controle três dias (C3), grupo controle sete dias (C7), grupo Passiflora três dias (P3) e grupo Passiflora sete dias (P7). Após a morte dos ratos, retirou-se espécimes da parede abdominal englobando a área operada. Os espécimes foram submetidos à avaliação macroscópica, histológica e tensiométrica. RESULTADOS: Na avaliação macroscópica, não houve diferença significante entre GC e GP. Na histológica, comparando-se C3 vs. P3, a variável inflamação aguda foi mais intensa no grupo C3, enquanto a colagenização e a neoformação capilar apresentaram diferenças significantes (0,001 e 0,001, respectivamente), em favor de P3. Entre C7 vs. P7, as variáveis inflamação aguda, inflamação crônica e neoformação capilar também apresentaram diferenças significantes (p=0,002; 0,006 e 0,001, respectivamente). Na avaliação tensiométrica, a carga máxima de ruptura (Cmáx) do sétimo dia foi maior no grupo Passiflora em relação ao grupo controle (6,91 &plusmn; 1,36 vs. 5,05 &plusmn; 1,63, p=0,013). A deformação máxima de ruptura (Dmáx) do sétimo dia também foi maior no grupo Passiflora em relação ao grupo controle (36,49 &plusmn; 4,61 vs. 26,19 &plusmn; 5,74, p=0,001). CONCLUSÃO: O extrato de Passiflora edulis melhora a cicatrização de laparotomias medianas em ratos, nos aspectos histológico e tensiométrico.<br>INTRODUCTION: The Brazilian popular habit of using plants to treat several health conditions is ancient. Passion fruit (Passiflora edulis) is widely used to treat, usually in an empiric basis, a variety of medical conditions. Anti-inflammatory activity of Passiflora edulis extract, similar to non-steroidal anti-inflammatory drugs (NSAID's), has been described. PURPOSE: To evaluate the effect of Passiflora edulis extract hidroalcoolical on the healing of midline abdominal incisions in rats by morphological and tensiometric methods. METHODS: Forty male Wistar rats were randomly allocated into two groups to either receive Passiflora edulis extract (study group, P) or saline (control group, C) intraperitoneally, in a single isovolumetric dose, after a standardized ventral midline laparotomy had been performed. The twenty rats of the control group as well as those twenty of the study group were divided into subgroups according to the time of sacrifice, either the 3rd PO day (P3, C3) or the 7th PO day (P7, C7). On day three and on day seven after surgery, the rats were sacrificed and the wound area was excised by a standardized protocol. The healing process of the specimens was evaluated macroscopically and histologically. The tensile strength was evaluated by a constant speed computerized tensiometer to determine the breaking strength and the deformation of the healing incision. RESULTS: The macroscopic examination did not show significant differences between study and control groups. Histologically, the C3 vs. P3 comparison showed the following differences: for the variables acute inflammation (p=0.045 in favor of C3), colagenization and capillary neoformation: p=0.001 e 0.001, respectively in favor of P3. Similarly, the C7 vs. P7 comparison showed the following differences for the variables acute inflammation (p=0.002 in favor of C7), chronic inflammation and capillary neoformation: p= 0.006 e 0.001, respectively in favor of P7. Tensiometrically, maximal breaking strength (Cmáx) on day seven of the study group was higher when compared to control group, (6.91 &plusmn; 1.36 vs. 5.05 &plusmn; 1.63, p=0.013). Maximal deformation strength (Dmáx) on day seven of the study group was higher when compared to control group (36.49 &plusmn; 4.61 vs. 26.19 &plusmn; 5.74, p=0.001). CONCLUSION: Passiflora edulis extract enhances the healing of midline abdominal incisions in rats, especially the histological and tensiometric aspects

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hypercholesterolemia, and hyperlipoprotein (a) [Lp(a)] can also mimic a clinical FH phenotype. We aim to present a new diagnostic tool to unravel the genetic background of clinical FH phenotype. Biochemical and genetic study was performed in 1,005 individuals with clinical diagnosis of FH, referred to the Portuguese FH Study. A next-generation sequencing panel, covering eight genes and eight SNPs to determine LDL-C polygenic risk score and LPA genetic score, was validated, and used in this study. FH was genetically confirmed in 417 index cases: 408 heterozygotes and 9 homozygotes. Cascade screening increased the identification to 1,000 FH individuals, including 11 homozygotes. FH-negative individuals (phenotype positive and genotype negative) have Lp(a) >50 mg/dl (30%), high polygenic risk score (16%), other monogenic lipid metabolism disorders (1%), and heterozygous pathogenic variants in FH-phenocopy genes (2%). Heterozygous variants of uncertain significance were identified in primary genes (12%) and phenocopy genes (7%). Overall, 42% of our cohort was genetically confirmed with FH. In the remaining individuals, other causes for high LDL-C were identified in 68%. Hyper-Lp(a) or polygenic hypercholesterolemia may be the cause of the clinical FH phenotype in almost half of FH-negative individuals. A small part has pathogenic variants in ABCG5/ABCG8 in heterozygosity that can cause hypercholesterolemia and should be further investigated. This extended next-generation sequencing panel identifies individuals with FH and FH-phenocopies, allowing to personalize each person’s treatment according to the affected pathway