Rare CFTR large deletions: a series of cases / Grandes deleções raras no CFTR: uma série de casos

Aims: this paper aims to describe diagnosis and follow-up of patients affected by the Cystic Fibrosis (CF) manifestations and CFTR large deletions. For this, we performed a retrospective analysis of medical records, including genotyping and retrospective follow-up of clinical and lung function data. Electronic and printed medical records of patients followed at a referral outpatient clinic in CF were evaluated. Case description: we found that three patients had large deletions in the CFTRgene, being two of them heterozygous (heterozygous with deletion on exons from 2 to 3, and heterozygous for deletions on exons from 25 to 27) and one of them homozygous (homozygous for the deletions on exons from 19 to 21). One patient had a false negative result in complete genetic sequencing. All three received standard treatment for CF. Two patients died from CF pulmonary complications. Therefore, false negatives findings in CFTR sequencing for the diagnosis of CF are rare but may be more frequent in patients with large deletions. Conclusions: CFTR large deletions are associated with severe CF phenotypes

Objetivo: este trabalho tem como objetivo descrever o diagnóstico e o acompanhamento de pacientes acometidos pelas manifestações da fibrose cística e grandes deleções do gene CFTR. Para isso, realizamos análise retrospectiva de prontuários, incluindo genotipagem e acompanhamento retrospectivo de dados clínicos e de função pulmonar. Descrição dos casos: foram avaliados prontuários eletrônicos e impressos de pacientes acompanhados em ambulatório de referência em fibrose cística. Encontramos três pacientes com grandes deleções no gene CFTR, sendo dois deles heterozigotos (heterozigotos com deleção nos éxons de 2 a 3 e heterozigotos para deleções nos éxons de 25 a 27) e um deles homozigoto (homozigoto para as deleções nos éxons de 19 a 21,). Um paciente apresentou resultado falso negativo no sequenciamento genético completo. Todos os três receberam tratamento padrão para fibrose cística. Dois pacientes morreram de complicações pulmonares da fibrose cística. Portanto, achados falsos negativos no sequenciamento CFTR para o diagnóstico de fibrose cística são raros, mas podem ser mais frequentes em pacientes com grandes deleções. Conclusão: grandes deleções de CFTR estão associadas a fenótipos graves de FC

Translational Research in Cystic Fibrosis: From Bench to Beside.

Cystic fibrosis is the most common life-limiting recessive genetic disorder in Caucasian populations, characterized by the involvement of exocrine glands, causing multisystemic comorbidities. Since the first descriptions of pancreatic and pulmonary involvement in children, technological development and basic science research have allowed great advances in the diagnosis and treatment of cystic fibrosis. The great search for treatments that acted at the genetic level, despite not having found a cure for this disease, culminated in the creation of CFTR modulators, highly effective medications for certain groups of patients. However, there are still many obstacles behind the treatment of the disease to be discussed, given the wide variety of mutations and phenotypes involved and the difficulty of access that permeate these new therapies around the world.

Portocath insertion technique: retrospective study & step-by-step surgical description without tunneling in a high-complexity service.

OBJECTIVE: to demonstrate that the use of the portocath implantation technique without tunneling the catheter is not associated with a higher rate of complications in the short or long term. In addition, we aim to improve the implantation technique of the portocath device, with the presentation of a step-by-step guide for surgeons in training. METHODS: this is a retrospective descriptive study, with analytical components. Data were analyzed using information extracted from electronic medical records linked to the National Health Care procedure code between the years 2019-2020. RESULTS: none of the 94 procedures resulted in complications on the day they were performed. Complications were recorded seven days after the procedure in only two patients (2.13%). Intraoperative radioscopy had been performed in both cases. Thirty days afters the procedure, complications were observed in two patients among the remaining 92 (2.17%), both undergoing catheter implantation without tunneling. There were no complications in the six months after portocath implantation in 57.4% of patients and there is no information about the other 42.6%. CONCLUSION: the portocath insertion technique without tunneling is a safe outpatient procedure, with a low risk of complications, and can be adopted to shorten procedure time and patient discomfort, without functional or safety impairments. There was no association of not tunneling the catheter, laterality of the punctured vein and performing radioscopy in the transoperative period with the rate of complications.

Portocath insertion technique: retrospective study & step-by-step surgical description without tunneling in a high-complexity service / Técnica de inserção de portocath: estudo retrospectivo & descrição cirúrgica do passo a passo sem tunelização em serviço de alta complexidade

ABSTRACT Objective: to demonstrate that the use of the portocath implantation technique without tunneling the catheter is not associated with a higher rate of complications in the short or long term. In addition, we aim to improve the implantation technique of the portocath device, with the presentation of a step-by-step guide for surgeons in training. Methods: this is a retrospective descriptive study, with analytical components. Data were analyzed using information extracted from electronic medical records linked to the National Health Care procedure code between the years 2019-2020. Results: none of the 94 procedures resulted in complications on the day they were performed. Complications were recorded seven days after the procedure in only two patients (2.13%). Intraoperative radioscopy had been performed in both cases. Thirty days afters the procedure, complications were observed in two patients among the remaining 92 (2.17%), both undergoing catheter implantation without tunneling. There were no complications in the six months after portocath implantation in 57.4% of patients and there is no information about the other 42.6%. Conclusion: the portocath insertion technique without tunneling is a safe outpatient procedure, with a low risk of complications, and can be adopted to shorten procedure time and patient discomfort, without functional or safety impairments. There was no association of not tunneling the catheter, laterality of the punctured vein and performing radioscopy in the transoperative period with the rate of complications.

RESUMO Objetivo: demonstrar que a utilização da técnica de implantação do portocath sem a etapa de tunelização não está associado a maior taxa de complicações a curto ou longo prazo. Além disso, almeja-se aperfeiçoar a técnica da implementação do dispositivo portocath, com a apresentação de um guia passo a passo para conduzir os cirurgiões em formação. Métodos: trata-se de um estudo retrospectivo descritivo, com componentes analíticos. Os dados foram analisados por meio das informações extraídas dos prontuários eletrônicos vinculados código do procedimento SUS entre 2019-2020. Resultados: nenhum dos 94 procedimentos culminou em complicações no dia de sua realização. Foram registradas complicações após sete dias do procedimento em apenas dois pacientes (2,13%). A radioscopia intraoperatória havia sido realizada em ambos os casos. Após 30 dias do procedimento, foram observadas complicações em dois pacientes entre os 92 restantes (2,17%), ambos submetidos ao implante do cateter sem tunelização. Não houve complicações seis meses após o implante do portocath em 57,4% dos pacientes e não há informação acerca dos outros 42,6%. Conclusão: a técnica inserção do portocath sem tunelização é um procedimento ambulatorial seguro, de baixo risco de complicação, podendo ser adotada como forma de abreviar tempo de procedimento e desconforto ao paciente, sem prejuízos funcionais ou de segurança. Não houve associação entre não tunelizar o cateter, lateralidade da veia puncionada e realização de radioscopia no transoperatório com a taxa de complicações.

Impact of nonpharmacological COVID-19 interventions in hospitalizations for childhood pneumonia in Brazil.

BACKGROUND AND OBJECTIVE: The knowledge about the impact of the nonpharmacological measures to control the COVID-19 pandemic can give insight into ways in which they can also be applied for other respiratory diseases. To assess the impact of containment measures of the COVID-19 pandemic on pneumonia hospitalizations in children from 0 to 14 years of age in Brazil. METHODS: Data from hospital admissions for pneumonia were obtained from the Department of Informatics of Brazilian Public Health System database in the period of 2015-2020 and analyzed by macroregions and age groups. To evaluate the effect of containment measures, on the incidence of pneumonia, the absolute reduction and relative reduction were calculated by analyzing the subsets 2015-2019 vs. 2020. RESULTS: Comparing the subsets of April-August 2015-2019 vs. April-August 2020 for Brazil (total), there was an significant reduction in the average incidence of hospitalizations, with numbers ranging from -82% [IRR 0.17 (0.14-0.21)] for <4 years (prepandemic 741.8/100,000 vs. pandemic 132.7/100.000), -83% [IRR 0.17 (0.10-0.27)] for 5-9 years (prepandemic 113.6/100,000 vs. pandemic 19.6/100.000), -77% [IRR 0.23 (0.11-0.46)] for 10-14 (prepandemic 42.0/100,000 vs. pandemic 9.8/100.000) and -82% [IRR 0.18 (0.15-0.21)] for all children ≤14 years (prepandemic 897.4/100,000 vs. pandemic 162.1/100.000). CONCLUSION: We found a significant decrease in cases of all cause pneumonia in children under 14 years and especially in the age group <9 years during the COVID-19 pandemic, which may be associated with the nonpharmacological measures applied to control the SARS-CoV-2.