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BACKGROUND: Liquid biopsy (LB) is a non-invasive tool to evaluate the heterogeneity of tumors. Since RAS mutations (RAS-mut) play a major role in resistance to antiepidermal growth factor receptor inhibitors (EGFR) monoclonal antibodies (Mabs), serial monitoring of RAS-mut with LB may be useful to guide treatment. The main aim of this study was to evaluate the prognostic value of the loss of RAS-mut (NeoRAS-wt) in LB, during the treatment of metastatic colorectal cancer (mCRC). METHODS: A retrospective study was conducted on patients with mCRC between January 2018 and December 2021. RAS-mut were examined in tissue biopsy, at mCRC diagnosis, and with LB, during treatment. RESULTS: Thirty-nine patients with RAS-mut mCRC were studied. LB was performed after a median of 3 lines (0-7) of systemic treatment including anti-vascular endothelial growth factor (anti-VEGF) Mabs. NeoRAS-wt was detected in 13 patients (33.3%); 9 (69.2%) of them received further treatment with anti-EGFR Mabs with a disease control rate of 44.4%. Median overall survival (OS), from the date of LB testing, was 20 months in the NeoRAS-wt group and 9 months in the persistent RAS-mut group (log-rank 2.985; Pâ =â .08), with a 12-month OS of 84.6% and 57.7%, respectively. NeoRAS-wt was identified as a predictor of survival (HRâ =â 0.29; Pâ =â .007), with an 11-month improvement in median OS and a 71% decrease in risk of death, in heavily pretreated patients. CONCLUSIONS: In conclusion, monitoring clonal evolution in mCRC by LB may provide an additional treatment line for patients with NeoRAS-wt in advanced disease.
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Antineoplásicos , Neoplasias do Colo , Neoplasias Colorretais , Neoplasias Retais , Humanos , Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/genética , Neoplasias Colorretais/patologia , Estudos Retrospectivos , Antineoplásicos/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Biópsia Líquida , MutaçãoRESUMO
OBJECTIVES: We examined internal lineages and haplotype diversity in Portuguese samples belonging to J-M304 to improve the spatial and temporal understanding of the introduction of this haplogroup in Iberia, using the available knowledge about the phylogeography of its main branches, J1-M267 and J2-M172. METHODS: A total of 110 males of Portuguese descent were analyzed for 17 Y-chromosome bi-allelic markers and seven Y-chromosome short tandem repeats (Y-STR) loci. RESULTS: Among J1-M267 individuals (n = 36), five different sub-haplogroups were identified, with the most common being J1a2b2-L147.1 (â¼72%), which encompassed the majority of representatives of the J1a2b-P58 subclade. One sample belonged to the rare J1a1-M365.1 lineage and presented a core Y-STR haplotype consistent with the Iberian settlement during the fifth century by the Alans, a people of Iranian heritage. The analysis of J2-M172 Portuguese males (n = 74) enabled the detection of the two main subclades at very dissimilar frequencies, J2a-M410 (â¼80%) and J2b-M12 (â¼20%), among which the most common branches were J2a1(xJ2a1b,h)-L26 (22.9%), J2a1b(xJ2a1b1)-M67 (20.3%), J2a1h-L24 (27%), and J2b2-M241 (20.3%). CONCLUSIONS: While previous inferences based on modern haplogroup J Y-chromosomes implicated a main Neolithic dissemination, here we propose a later arrival of J lineages into Iberia using a combination of novel Portuguese Y-chromosomal data and recent evidence from ancient DNA. Our analysis suggests that a substantial tranche of J1-M267 lineages was likely carried into the Iberian Peninsula as a consequence of the trans-Mediterranean contacts during the first millennium BC, while most of the J2-M172 lineages may be associated with post-Neolithic population movements within Europe.
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Cromossomos Humanos Y/genética , Haplótipos/genética , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Alelos , Marcadores Genéticos/genética , Humanos , Masculino , Filogeografia , PortugalRESUMO
Introduction: Patients with metastatic HER2-positive breast cancer have multiple therapeutic options. However, most are not studied in the renal replacement therapy (RRT) setting. Case report: We report the use of Phesgo® (subcutaneous fixed-dose combination of trastuzumab and pertuzumab) combined with exemestane as a first-line treatment of metastatic HER2-positive breast cancer in a hemodialysis patient with multiple comorbidities. Partial response was attained, with disease progression after 8 months without evidence of significant toxicity. Discussions: This case report is, to our knowledge, the first published case documenting the use of Phesgo® in a hemodialysis patient. No new safety signs were seen, and activity was documented, adding support to the use of this drug combination in such a patient population.
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We report the case of a 32-year-old male diagnosed with a left-sided testicular seminoma treated with radical inguinal orchiectomy and staged as pT1bN0M0S0 (rete testis invasion) - stage IA. Adjuvant treatment options were discussed, and active surveillance was chosen. Two years later, he presented with urinary retention alternating with pollakiuria, a feeling of incomplete bladder emptying, dyspareunia, and anejaculation. A rectal examination documented an enlarged, nodular, painful prostate. Blood and urine analyses, including serum tumor markers, were unremarkable. Pelvic magnetic resonance (MR) documented a central, nodular, solid, hypermetabolic, prostatic tumor with a size of 40x50x25 mm, invasion of the right seminal vesicle, right anterolateral wall of the rectum, and postero-inferior bladder wall, and an absent lymph node and visceral disease. A transrectal ultrasound-guided (TRUS) biopsy documented prostatic metastasis of the seminoma. The patient was treated with four cycles of bleomycin, etoposide, and cisplatin (BEP) chemotherapy (ChT) with a complete (clinical, radiologic, metabolic, and pathological) response. After five years of follow-up, he remains asymptomatic without a recurrence of the disease.
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At the time of the first wave of the COVID-19 pandemic, patients with cancer were considered to be at high risk of serious illness and had a higher exposure risk since they needed frequent and nondeferrable hospital visits. Serological tests were not routinely used, and seroprevalence in this population was unknown. A single-center, cross-sectional study was developed to determine the seroprevalence of anti-SARS-CoV-2 antibodies (Abs) in patients with cancer undergoing systemic antineoplastic treatment. One hundred patients were consecutively recruited in a two-week period (6th-20th May 2020), and serum samples were tested for the presence of immunoglobulin M (IgM) and immunoglobulin G (IgG) Abs directed against both spike (S) and nucleocapsid (N) SARS-CoV-2 proteins in two distinct time points (at recruitment and 4-8 weeks later). IgG-positive results were subject to confirmation, in the same serum sample, using two distinct assays. At the time of the first study visit, no patient had a previously confirmed diagnosis of COVID-19, one reported previous contact with a COVID-19 patient, and all had a baseline SARS-CoV-2-negative RT-PCR. Two patients tested positive for SARS-CoV-2 IgG in the first study visit, which was not confirmed in either of the two confirmatory assays. Seventy-two patients were tested at the second study visit, all with negative IgG tests. IgM was persistently positive at both study visits in one patient and was positive in another patient at the second study visit, both with negative RT-PCR and serum IgG. No patient tested positive for RT-PCR within the study timeframe. No evidence of prior or acute SARS-CoV-2 infection was documented in this cohort of patients with cancer undergoing systemic treatment, and no additional exposure risk was documented compared to general population seroprevalence studies. The study was inconclusive regarding the role of SARS-CoV-2 serology in patients with cancer in the early phase of the pandemic. This study did show that, with adherence to recommended preventive measures, it was safe to maintain systemic cancer therapy.
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INTRODUCTION: Guidelines recommend regional lymphadenectomy with a lymph node yield (LNY) of at least 12 lymph nodes (LN) for adequate colon cancer (CC) staging. LNY ≥22LN may improve survival, especially in right-sided CC [Lee et al., Surg Oncol, 27(3), 2018]. This multicentric retrospective cohort study evaluated the impact of LNY and tumor laterality on CC staging and survival. MATERIALS AND METHODS: Patients with stage I-III CC that underwent surgery from 2012 to 2018 were grouped according to LNY: <22 and ≥ 22. Primary outcomes were LN positivity (N+ rate) and disease-free survival (DFS). Overall survival (OS) was the secondary outcome. Exploratory analyses were performed for laterality and stage. RESULTS: We included 795 patients (417 < 22LN, 378 ≥ 22LN); 53% had left-sided CC and 29%/37%/38% had stage I/II/III tumors. There was no association between LNY ≥22LN and N+ rate after adjustment for grade, T stage, lymphovascular invasion (LVI) and perineural invasion; a trend for a higher N+ rate in left-sided CC was identified (interaction p = 0.033). With a median follow-up of 63.6 months for DFS and 73.2 months for OS, 254 patients (31.9%) relapsed and 207 (26.0%) died. In multivariate analysis adjusted for age, ASA score, laparoscopic approach, T/N stage, mucinous histology, LVI and adjuvant chemotherapy, LNY ≥22LN was significantly associated with both DFS (HR 0.75, p = 0.031) and OS (HR 0.71, p = 0.025). Restricted cubic spline analysis showed a more significant benefit for right-sided CC. CONCLUSION: LNY ≥22LN was associated with longer DFS and OS in patients with operable CC, especially for right-sided CC.
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Neoplasias do Colo , Linfonodos , Neoplasias do Colo/patologia , Humanos , Excisão de Linfonodo , Linfonodos/patologia , Linfonodos/cirurgia , Estadiamento de Neoplasias , Prognóstico , Estudos RetrospectivosRESUMO
A integração na vida profissional exige aprendizagens técnicas, onde a competência é sublimada pelos conhecimentos adquiridos e desenvolvidos mediante a prática, a experimentação e a partilha de saberes, ao longo da vida profissional, em contexto de trabalho, numa busca constante de atingir a perícia. O período de integração constitui uma fase crucial da adaptação e do desenvolvimento de um relacionamento saudável entre o novo enfermeiro e a restante equipa. Tendo em conta os fatores associados à integração do enfermeiro, entende-se que a compreensão entre o processo de integração vivenciado e a construção da sua identidade profissional é fundamental, uma vez que a mesma é construída pela interação e significado que o enfermeiro dá a estas interações, bem como pelas aprendizagens e desafios profissionais vivenciados. A supervisão clínica, por sua vez, vai fornecer orientação sobre o processo de aprimoramento dos cuidados com o objetivo de proporcionar uma transição mais saudável do enfermeiro em integração, bem como otimizar o desenvolvimento das suas competências, com vista a fomentar a eficiência e a qualidade do seu exercício profissional. Assim sendo, o supervisor clínico assume um papel fundamental em todo este processo.Com vista a dar resposta ao pretendido, delinearam-se os objetivos: Conhecer o modelo de integração em uso na organização/serviços; Analisar a perceção dos enfermeiros sobre o seu processo de integração; Analisar as perceções dos enfermeiros sobre a supervisão disponibilizada durante o processo de integração; Identificar os fatores facilitadores e dificultadores do processo de integração dos enfermeiros; Analisar as perceções dos enfermeiros sobre a relação da sua integração na construção da sua identidade profissional; Indigar a opinião dos enfermeiros sobre o papel do supervisor clínico na construção da sua identidade profissional; Indigar a opinião dos enfermeiros sobre o perfil do supervisor clínico promotor da identidade profissional dos enfermeiros; Identificar os elementos centrais de um modelo de integração que os enfermeiros considerem promotor da sua identidade profissional. Optou-se por uma abordagem qualitativa de natureza exploratória, descritiva, na qual participaram seis enfermeiras de um Hospital da Região Norte de Portugal com experiências diversas de processos de integração, incluindo no estrangeiro. Recorreu-se ao focus group como técnica de recolha de dados e utilizou-se um guião de entrevista semiestruturada como instrumento de recolha dos mesmos. A análise e o tratamento de dados foram realizados através da análise de conteúdo segundo Bardin. Da análise emergiram diferentes subcategorias e categorias, que estão na origem dos seguintes domínios: Vivência do processo de integração; Processo de integração em uso; Elementos centrais de um programa de integração promotor da identidade profissional; Enfermeiro Supervisor; e Integração e construção da Identidade Profissional. Podemos inferir do estudo, que a construção da identidade profissional ocorre no cruzamento do desejo pessoal, da trajetória pessoal e profissional, nas inter-relações pessoais e profissionais, na autoaceitação dos limites pessoais e profissionais, no reconhecimento das capacidades pessoais, na capacidade de reconciliação e no saber lidar com as frustrações e sentimentos de impotência. Foram evidentes no estudo que as vivências de integração dos enfermeiros influenciaram o seu desenvolvimento pessoal e profissional, com consequente influência na construção da sua identidade profissional. O papel da supervisão clínica em todo o processo foi também evidenciado como sendo de extrema importância, onde o papel do supervisor clínico foi considerado a chave para o sucesso.
Integration into professional life requires technical learning, where competence is sublimated by the knowledge acquired and developed through practice, experimentation and knowledge sharing, throughout professional life, in a work context, in a constant search to achieve expertise. The integration period is a crucial phase in the adaptation and development of a healthy relationship between the new nurse and the rest of the team. Taking into account the factors associated with the integration of the nurse, it is understood that the understanding between the integration process experienced and the construction of their professional identity is fundamental, since it is built by the interaction and meaning that the nurse gives to these interactions, as well as the learning and professional challenges experienced. Clinical supervision, in turn, it will provide guidance on the process of improving care with the aim of providing a healthier transition for the integrated nurse, as well as optimizing the development of their skills, with a view to fostering the efficiency and quality of their professional practice. . Therefore, the clinical supervisor plays a fundamental role in this entire process. In order to respond to what was intended, the objectives were outlined: Know the integration model in use in the organization/services; Analyze the nurses' perception about their integration process; Analyze the nurses' perceptions about the supervision provided during the integration process; Identify the facilitating and the hindering factors of the nurses' integration process; Analyze the nurses' perceptions about the relationship of their integration in the construction of their professional identity; Analyze the nurses' opinion about the role of the clinical supervisor in the construction of their professional identity; Analyze the nurses' opinion about the profile of the clinical supervisor who promotes the professional identity of nurses. We opted for a qualitative approach of an exploratory, descriptive nature, in which six nurses from an Hospital of the North Region of Portugal with diverse experiences of integration processes, including abroad. The focus group was used as a data collection technique and a semi-structured interview guide was used as a data collection instrument. Data analysis and treatment were performed using content analysis according to Bardin. From the analysis, different subcategories and categories emerged, which are at the origin of the following domains: Experience of the integration process; Integration process in use; Central elements of an integration program that promotes professional identity; Supervisor Nurse; and Integration and construction of the Professional Identity. We can infer from the study that the construction of professional identity occurs at the intersection of personal desire, personal and professional trajectory, personal and professional interrelationships, self-acceptance of personal and professional limits, recognition of personal capabilities, capacity for reconciliation and knowing how to deal with frustrations and feelings of impotence. It was evident in the study that the nurses' experiences of integration influenced their personal and professional development, with consequent influence on the construction of their professional identity. The role of clinical supervision throughout the process was also highlighted as being of utmost importance, where the role of the clinical supervisor was considered the key to success.
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Supervisão de Enfermagem , Colaboração IntersetorialRESUMO
Splenic Epidermoid Cyst is a rare entity and the imaging methods play a major role in the diagnosis, although this can only be accomplished by the histological features. The authors report a case of splenic epidermoid cyst in a child of eleven years old, which presented with one month history of post-traumatic abdominal pain. They illustrate the imaging features on ultrasound, CT and MR with pathologic correlation. A review of imaging aspects in the characterization and diagnosis of this clinical entity is made.