GASTROINTESTINAL STROMAL TUMOR: OUTCOMES OF THE PAST DECADE IN A REFERENCE INSTITUTION IN SOUTHERN BRAZIL.

AIM: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the digestive tract and has a wide variation in biological behavior; surgical resection remains the main form of treatment. This study aimed to analyze clinicopathological characteristics and survival of patients with GIST in a reference institution for oncological diseases. METHODS: An observational, longitudinal, and retrospective study of patients diagnosed with GIST from January 2011 to January 2020 was carried out by analyzing epidemiological and clinical variables, staging, surgical resection, recurrence, use of imatinib, and curves of overall survival (OS) and disease-free survival (DFS). RESULTS: A total of 38 patients were included. The majority (58%) of patients were males and the median age was 62 years. The primary organs that were affected by this tumor were stomach (63%) and small intestine (17%). Notably, 24% of patients had metastatic disease at diagnosis; 76% of patients received surgical treatment and 13% received neoadjuvant treatment; and 47% of patients received imatinib as adjuvant or palliative therapy. Tumor recurrence was 13%, being more common in the liver. The 5-year OS was 72.5% and DFS was 47.1%. The operated ones had better OS (87.1% vs. 18.5%) and DFS (57.1% vs. 14.3%) in 5 years. Tumor size ≥5 cm had no difference in OS at 5 years, but DFS was 24.6%, when compared with 92.3% of smaller tumors. Patients who were undergoing neoadjuvant therapy and/or using imatinib did not show any significant differences. CONCLUSIONS: Surgical treatment with adequate margins allows the best gain in survival, and the use of imatinib in more advanced cases has prognostic equity with less advanced-stage tumors. Treatment of metastatic tumors seems promising, requiring further studies.

Gastrointestinal stromal tumor: outcomes of the past decade in a reference institution in southern brazil / Tumor estromal gastrointestinal (gist): resultados da última década em uma instituição de referência no sul do brasil

ABSTRACT - BACKGROUND: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the digestive tract and has a wide variation in biological behavior; surgical resection remains the main form of treatment. AIM: This study aimed to analyze clinicopathological characteristics and survival of patients with GIST in a reference institution for oncological diseases. METHODS: An observational, longitudinal, and retrospective study of patients diagnosed with GIST from January 2011 to January 2020 was carried out by analyzing epidemiological and clinical variables, staging, surgical resection, recurrence, use of imatinib, and curves of overall survival (OS) and disease-free survival (DFS). RESULTS: A total of 38 patients were included. The majority (58%) of patients were males and the median age was 62 years. The primary organs that were affected by this tumor were stomach (63%) and small intestine (17%). Notably, 24% of patients had metastatic disease at diagnosis; 76% of patients received surgical treatment and 13% received neoadjuvant treatment; and 47% of patients received imatinib as adjuvant or palliative therapy. Tumor recurrence was 13%, being more common in the liver. The 5-year OS was 72.5% and DFS was 47.1%. The operated ones had better OS (87.1% vs. 18.5%) and DFS (57.1% vs. 14.3%) in 5 years. Tumor size ≥5 cm had no difference in OS at 5 years, but DFS was 24.6%, when compared with 92.3% of smaller tumors. Patients who were undergoing neoadjuvant therapy and/or using imatinib did not show any significant differences. CONCLUSIONS: Surgical treatment with adequate margins allows the best gain in survival, and the use of imatinib in more advanced cases has prognostic equity with less advanced-stage tumors. Treatment of metastatic tumors seems promising, requiring further studies.

RESUMO - RACIONAL: O Tumor estromal gastrointestinal (Gastrointestinal stromal tumor - GIST) é a neoplasia mesenquimal mais comum do trato digestivo, possui comportamento biológico variado e a principal forma de tratamento é a ressecção cirúrgica. OBJETIVO: analisar as características clínico-patológicas e a sobrevida de pacientes com GIST em uma instituição de referência para doenças oncológicas. MÉTODOS: Foi realizado um estudo observacional, longitudinal e retrospectivo de pacientes com diagnóstico de GIST de janeiro de 2011 a janeiro de 2020, analisando variáveis epidemiológicas e clínicas, estadiamento, ressecção cirúrgica, recidiva, uso de imatinibe e curvas de sobrevida global (SG) e sobrevida livre de doença (SLD). RESULTADOS: foram incluídos 38 pacientes, a maioria (58%) do sexo masculino, idade mediana de 62 anos. Os principais órgãos primários foram estômago (63%) e intestino delgado (17%). 24% tinham doença metastática ao diagnóstico. 76% receberam tratamento cirúrgico e 13% tratamento neoadjuvante. 47% dos pacientes receberam Imatinib como terapia adjuvante ou paliativa. A recorrência tumoral foi de 13%, mais comum no fígado. SG de 5 anos foi de 72,5% e SLD 47,1%. Os operados tiveram melhor SG (87,1% vs. 18,5%) e SLD (57,1% vs. 14,3%) em 5 anos. O tamanho do tumor igual ou maior que 5 cm não teve diferença na SG em 5 anos, mas SLD foi de 24,6%, em comparação com 92,3% dos tumores menores. Pacientes em terapia neoadjuvante e/ou em uso de imatinibe não apresentaram diferenças significativas. CONCLUSÕES: O tratamento cirúrgico com margens adequadas permite o melhor ganho de sobrevida, e o uso de Imatinibe em casos mais avançados tem equidade prognóstica com tumores em estágio menos avançado. O tratamento de tumores metastáticos parece promissor, necessitando de mais estudos.

A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings.

Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. A small supernumerary chromosome is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11) in those affected. It's known that the 22q11 region is associated with disorders involving higher and lower gene dosages. Conditions such as CES, 22q11 microduplication syndrome (Dup22q11) and oculoauriculovertebral spectrum phenotype (OAVS) may share genes belonging to this same region, which is known to have a predisposition to chromosomal rearrangements. The conditions, besides being related to chromosome 22, also share similar phenotypes. Here we have added a molecular evaluation update and results found of the first patient described with CES and OAVS phenotype, trying to explain the potential mechanism involved in the occurrence of this association.

OPEN VS LAPAROSCOPIC HERNIA REPAIR IN THE BRAZILIAN PUBLIC HEALTH SYSTEM. AN 11-YEAR NATIONWIDE POPULATION-BASED STUDY.

BACKGROUND: Abdominal wall hernia is one of the most common surgical pathologies. The advent of minimally invasive surgery raised questions about the best technique to be applied, considering the possibility of reducing postoperative pain, a lower rate of complications, and early return to usual activities. OBJECTIVE: To evaluate the frequency of open and laparoscopic hernioplasties in Brazil from 2008 to 2018, analyzing the rates of urgent and elective surgeries, mortality, costs, and the impact of laparoscopic surgical training on the public health system. METHODS: Nationwide data from 2008 to 2018 were obtained from the public health registry database (DATASUS) for a descriptive analysis of the selected data and parameters. RESULTS: 2,671,347 hernioplasties were performed in the period, an average of 242,850 surgeries per year (99.4% open, 0.6% laparoscopic). The economically active population (aged 20-59) constituted the dominant group (54.5%). There was a significant reduction (P<0.01) in open surgeries, without a compensatory increase in laparoscopic procedures. 22.3% of surgeries were urgent, with a significant increase in mortality when compared to elective surgeries (P<0.01). The distribution of laparoscopic surgery varied widely, directly associated with the number of digestive surgeons. CONCLUSION: This study presents nationwide data on hernia repair surgeries in Brazil for the first time. Minimally invasive techniques represent a minor portion of hernioplasties. Urgent surgeries represent a high percentage when compared to other countries, with increased mortality. The data reinforce the need for improvement in the offer of services, specialized training, and equalization in the distribution of procedures in all regions.

Reparo das hérnias abertas e laparoscópicas no Sistema Público de Saúde brasileiro. Estudo nacional baseado em dados populacionais em período de 11 anos / Open vs laparoscopic hernia repair in the brazilian public health system. an 11-year nationwide population-based study

ABSTRACT BACKGROUND: Abdominal wall hernia is one of the most common surgical pathologies. The advent of minimally invasive surgery raised questions about the best technique to be applied, considering the possibility of reducing postoperative pain, a lower rate of complications, and early return to usual activities. OBJECTIVE: To evaluate the frequency of open and laparoscopic hernioplasties in Brazil from 2008 to 2018, analyzing the rates of urgent and elective surgeries, mortality, costs, and the impact of laparoscopic surgical training on the public health system. METHODS: Nationwide data from 2008 to 2018 were obtained from the public health registry database (DATASUS) for a descriptive analysis of the selected data and parameters. RESULTS: 2,671,347 hernioplasties were performed in the period, an average of 242,850 surgeries per year (99.4% open, 0.6% laparoscopic). The economically active population (aged 20-59) constituted the dominant group (54.5%). There was a significant reduction (P<0.01) in open surgeries, without a compensatory increase in laparoscopic procedures. 22.3% of surgeries were urgent, with a significant increase in mortality when compared to elective surgeries (P<0.01). The distribution of laparoscopic surgery varied widely, directly associated with the number of digestive surgeons. CONCLUSION: This study presents nationwide data on hernia repair surgeries in Brazil for the first time. Minimally invasive techniques represent a minor portion of hernioplasties. Urgent surgeries represent a high percentage when compared to other countries, with increased mortality. The data reinforce the need for improvement in the offer of services, specialized training, and equalization in the distribution of procedures in all regions.

RESUMO CONTEXTO: Hérnias de parede abdominal são patologias cirúrgicas frequentes. O surgimento da cirurgia minimamente invasiva levantou questionamentos sobre a melhor técnica a ser aplicada, considerando a possível redução de dor pós-operatória e de complicações, e retorno precoce às atividades habituais. OBJETIVO: Avaliar frequência de hernioplastias abertas e laparoscópicas no Brasil entre os anos de 2008 e 2018, analisar taxas de cirurgias urgentes e eletivas, mortalidade, custos e o impacto do treinamento em cirurgia laparoscópica no sistema público de saúde. MÉTODOS Análise de banco de dados do registro de saúde pública (DATASUS) entre 2008 e 2018 para coleta dos dados e parâmetros selecionados. RESULTADOS: Foram realizadas 2.671.347 hernioplastias no período, média de 242.850 cirurgias/ano (99,4% abertas, 0,6% laparoscópicas). Predominou a faixa etária economicamente ativa (20-59 anos), 54,5% do total. Houve redução significativa das cirurgias abertas (P<0,01), sem aumento compensatório da laparoscopia. 22,3% das cirurgias foram de urgência, com aumento significativo da mortalidade em relação às cirurgias eletivas (P<0,01). Observou-se distribuição heterogênea da videolaparoscopia, diretamente relacionada com o número de cirurgiões digestivos. CONCLUSÃO: Este estudo apresenta pela primeira vez os dados populacionais das cirurgias de hérnia no Brasil. As técnicas minimamente invasivas representam uma parcela pouco significativa das hernioplastias. As cirurgias urgentes apresentam percentual elevado comparado a outros países, com aumento significativo na mortalidade, reforçando a necessidade de políticas que permitam aumento da oferta do serviço, treinamento especializado e equalização na distribuição dos procedimentos em todas as regiões.

O trabalho da equipe orientado pelas motivações dos usuários no CAPSad: estudo fenomenológico / El trabajo del equipo orientado por motivaciones de los usuarios en el CAPSad: un estudio fenomenológico / The team's work guided by motivation of users in capsad: a phenomenological study

Objective: understanding the teamwork of a Psychosocial Care Center Alcohol and other Drugs (CAPSad) driven by the motivations of users from the perspective of social phenomenology of Alfred Schutz. Method: this is a qualitative and phenomenological research conducted from September 2013 to February 2014, with health workers of a CAPSad in Porto Alegre, Rio Grande do Sul, Brazil. Data collection was performed by means of phenomenological interviews and analysis by comprehensive interpretation. Results: it identified the importance of CAPSad on consolidation actions, such as: care togheter with the user; expansion of lifeworld user; and promoting autonomy in these actions. Conclusion: the study showed that we can move forward in the consolidation of shares tied to the mental health needs of process users, allowing them to be protagonists of processes of its existence.

Objetivo: compreender o trabalho da equipe de um Centro de Atenção Psicossocial Álcool e outras Drogas (CAPSad) orientado pelas motivações dos usuários na perspectiva da fenomenologia social de Alfred Schutz. Método: trata-se de uma pesquisa qualitativa e fenomenológica realizada de setembro de 2013 a fevereiro de 2014, com trabalhadores de saúde de um CAPSad no município de Porto Alegre, Rio Grande do Sul, Brasil. A coleta das informações deu-se por meio de entrevista fenomenológica e a análise pela interpretação compreensiva. Resultados: identificou-se a importância do CAPSad na consolidação de ações como: o cuidado junto ao usuário; ampliação do mundo da vida do usuário; e promoção da autonomia nestas ações. Conclusão: o estudo evidenciou que se pode avançar no processo de consolidação de ações em saúde mental atreladas às necessidades dos usuários, permitindo que estes sejam protagonistas de processos de sua existência.

Objetivo: comprender el trabajo en equipo de un Centro de Atención Psicosocial Alcohol y otras Drogas (CAPSad) impulsados por las motivaciones de los usuarios a la luz de la fenomenología social de Alfred Schutz. Método: es una investigación cualitativa y fenomenológica realizada de septiembre 2013 a febrero 2014, con los trabajadores de salud en Porto Alegre, Rio Grande do Sul, Brasil. La recolección de datos fue realizada por medio de entrevistas fenomenológicas y análisis por interpretación detallada. Resultados: identificó se la importancia del CAPSad en la consolidación de las acciones como: la atención junto al usuario; la expansión del mundo de la vida del usuario; y la promoción de la autonomía en estas acciones. Conclusión: el estudio mostró que podemos avanzar en la consolidación de las acciones en la salud mental vinculadas a las necesidades de los usuarios, que les permite ser protagonistas de los procesos de su existencia.