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Variants in the non-coding region of the TLR2 gene associated with infectious subphenotypes in pediatric sickle cell anemia
No full textSickle cell anemia (SCA) is characterized by chronic hemolysis, severe vasoocclusive crises (VOCs), and recurrent often severe infections. A cohort of 95 SCA pediatric patients was the background for genotype-to-phenotype association of the patient's infectious disease phenotype and three non-coding polymorphic regions of the TLR2 gene, the -196 to -174 indel, SNP rs4696480, and a (GT)n short tandem repeat. The infectious subphenotypes included (A) recurrent respiratory infections and (B) severe bacterial infection at least once during the patient's follow-up. The absence of the haplotype [Del]-T-[n ≥ 17] (Hap7) in homozygocity protected against subphenotype (B), in a statistically significant association, resisting correction for multiple testing. For the individual loci, the same association tendencies were observed as in the haplotype, including a deleterious association between the SNP rs4696480 T allele and subphenotype (A), whereas the A/A genotype was protective, and a deleterious effect of the A/T genotype with subphenotype (B), as well as including the protective effect of -196 to -174 insert (Ins) and deleterious effect of the deletion (Del) in homozygocity, against subphenotype (B). Moreover, a reduction in the incidence rate of severe bacterial infection was associated to a rise in the hemolytic score, fetal hemoglobin levels (prior to hydroxyurea treatment), and 3.7-kb alpha-thalassemia. Interestingly, differences between the effects of the two latter covariables favoring a reduction in the incidence rate of subphenotype (B) contrast with a resulting increase in relation to subphenotype (A). These results could have practical implications in health care strategies to lower the morbidity and mortality of SCA patients.info:eu-repo/semantics/publishedVersio
Confidencialidade de dados
Get PDFSessão de apresentação da Unidade de Investigação Clínica (UIC), com a descrição da reorganização da Unidade, circuitos e procedimentos para o desenvolvimento de estudos clínicos.
A segunda parte abordou essencialmente questões relacionadas com o tratamento de dados pessoais no âmbito da investigação clínicaN/
Persistent radiologic thoracic hypotransparency: A case report and review of the literature.
No full textA thymolipoma is a slow-growing, anterior mediastinal tumor, rare in childhood. The authors present a report of a 4-year-old girl with persistent right thoracic hypotransparency on the chest radiograph. Computed tomography and magnetic resonance imaging revealed an anterior, well-limited, mediastinal mass of heterogeneous density, with lipomatous and soft tissue density areas. The tumor was totally excised and the histopathologic findings revealed a thymolipoma. A year and a half after surgery, the child remains well. This report enhances the relevance of differential diagnosis in the presence of persistent radiologic thoracic hypotransparency.info:eu-repo/semantics/publishedVersio
ERCP in Portugal: A Wide Survey on the Prevention of Post-ERCP Pancreatitis and Papillary Cannulation Techniques.
Get PDFBackground/Aims: Recently the European Society of Gastrointestinal Endoscopy
delivered guidelines on the prevention of post-endoscopic retrograde
cholangiopancreatography pancreatitis (PEP) and on the papillary cannulation and
sphincterotomy techniques at endoscopic retrograde cholangiopancreatography
(ERCP). There are no data concerning current practices in Portugal. The aim of
this study was to capture practice patterns of Portuguese pancreaticobiliary
endoscopists with special interest in the prevention of PEP and cannulation
techniques.
Methods: A written survey was distributed to all pancreaticobiliary endoscopists
attending the first Portuguese meeting dedicated to ERCP in November 2016. The
main outcome measures were: technique used for standard biliary cannulation, use
of nonsteroidal anti-inflammatory drugs (NSAIDs) in PEP, attempting prophylactic
pancreatic stenting after using pancreatic guidewire (PGW)-assisted biliary
cannulation in patients where biliary cannulation was difficult, and use of
precut as the first rescue technique when biliary cannulation was difficult.
Results: Completed surveys were collected from 28 of the 32 pancreatobiliary
endoscopists attending the meeting (answer rate 87.5%). Biliary cannulation was
performed using a guidewire access technique by the majority (77%), usually with
a sphincterotome. When cannulation was unsuccessful, precut was the first choice
for 70%. NSAIDs were administered routinely for PEP by only 54%; PGW-assisted
biliary cannulation was the first choice after failed standard cannulation for a
minority of them, and only 27% reported to routinely attempt insertion of a
pancreatic stent. High-volume endoscopists (> 150/year) tended to use NSAIDs and
to insert a stent in PGW-assisted cannulation less often than
low-volume-endoscopists (50 vs. 83.3%, p < 0.01, and 40 vs. 100%, p < 0.01,
respectively). Precut was started without prior formal training by more than half
of the endoscopists.
Conclusions: There is a pronounced discrepancy between evidence-based guidelines
and current clinical practice. This discrepancy is more pronounced in PEP
prophylaxis, especially among high-volume endoscopists. Some advanced techniques
in ERCP are initiated unsupervised, without any previous formal training.
Key Message: There is a significant gap between guidelines and routine clinical
practice.info:eu-repo/semantics/publishedVersio
Streptococcus pyogenes Causing Skin and Soft Tissue Infections Are Enriched in the Recently Emerged emm89 Clade 3 and Are Not Associated With Abrogation of CovRS.
Get PDFAlthough skin and soft tissue infections (SSTI) are the most common focal infections associated with invasive disease caused by Streptococcus pyogenes (Lancefield Group A streptococci - GAS), there is scarce information on the characteristics of isolates recovered from SSTI in temperate-climate regions. In this study, 320 GAS isolated from SSTI in Portugal were characterized by multiple typing methods and tested for antimicrobial susceptibility and SpeB activity. The covRS and ropB genes of isolates with no detectable SpeB activity were sequenced. The antimicrobial susceptibility profile was similar to that of previously characterized isolates from invasive infections (iGAS), presenting a decreasing trend in macrolide resistance. However, the clonal composition of SSTI between 2005 and 2009 was significantly different from that of contemporary iGAS. Overall, iGAS were associated with emm1 and emm3, while SSTI were associated with emm89, the dominant emm type among SSTI (19%). Within emm89, SSTI were only significantly associated with isolates lacking the hasABC locus, suggesting that the recently emerged emm89 clade 3 may have an increased potential to cause SSTI. Reflecting these associations between emm type and disease presentation, there were also differences in the distribution of emm clusters, sequence types, and superantigen gene profiles between SSTI and iGAS. According to the predicted ability of each emm cluster to interact with host proteins, iGAS were associated with the ability to bind fibrinogen and albumin, whereas SSTI isolates were associated with the ability to bind C4BP, IgA, and IgG. SpeB activity was absent in 79 isolates (25%), in line with the proportion previously observed among iGAS. Null covS and ropB alleles (predicted to eliminate protein function) were detected in 10 (3%) and 12 (4%) isolates, corresponding to an underrepresentation of mutations impairing CovRS function in SSTI relative to iGAS. Overall, these results indicate that the isolates responsible for SSTI are genetically distinct from those recovered from normally sterile sites, supporting a role for mutations impairing CovRS activity specifically in invasive infection and suggesting that this role relies on a differential regulation of other virulence factors besides SpeB.info:eu-repo/semantics/publishedVersio
Killian-Jamieson diverticulum mimicking a suspicious thyroid lesion
Get PDFKillian-Jamieson diverticulum represents a rare form of esophageal diverticulum originating on the anterolateral wall of the cervical esophagus. Despite its rarity, it is crucial to recognize this entity, with such specific imaging findings, to avoid unnecessary invasive procedures such as fine-needle aspiration or even surgery.info:eu-repo/semantics/publishedVersio
Anemia grave como apresentação de linfoma T Angioimunoblástico : um caso clínico
Get PDFIntrodução: O linfoma T Angioimunoblástico é uma entidade rara, que representa 1 a 2% dos linfomas não Hodgkin, com envolvimento sistémico associado a fenómenos auto-imunes.1,2 Caracteriza-se por um comportamento agressivo e clinicamente por uma apresentação súbita de sintomas constitucionais, adenomegálias generalizadas, hepatoesplenomegália, anemia e hipergamaglobulinemia.2
Objetivos: Partilhar apresentação de um caso clínico de Linfoma T Angioimunoblástico e suas particularidades transfusionais.
Métodos: Observação, exame objectivo e recolha de história clínica junto da doente. Consulta de registos clínicos no programa Sorian e recolha de dados analíticos relevantes nos programas WebAppolo, ASIS e registos de estudos pré-transfusionais realizados no SSMT. Recolha de dados, telefonicamente, junto do IPST, relativamente aos estudos pré-transfusionais realizados no mesmo.
Resultados: Doente do sexo feminino, 72 anos, autónoma, sem antecedentes transfusionais, apresentava em consulta de ambulatório queixas de dor abdominal difusa, com três dias de evolução, sem alterações do trânsito intestinal. Exame objectivo sem alterações relevantes. Analiticamente apresentava Hb 11.1 g/dL. Realizou TC abdominal que mostrou “expressão quística parapiélica bilateral, adenomegálias ileo-pélvicas, pequenas adenopatias periaórticas e densificação retroperitoneal”.
Duas semanas mais tarde inicia quadro de cansaço para pequenos esforços, associado a anorexia, perda de peso e palidez cutânea, pelo que recorre ao Serviço de Urgência. Apresentava-se hemodinamicamente estável, pálida, com sudorese, apirética, polipneica. Sat O2-97% com 2L/min de O2. Ligeira dor à palpação abdominal nos quadrantes inferiores, sem defesa. Analiticamente: Hb 3.1 g/dL normocitica/normocrómica. Não reunia critérios de anemia hemolítica.
Foram requisitadas duas Unidades (U) de Concentrado Eritrocitário (CE). No estudo pré-transfusional, método em gel, encontrou-se: PAI positiva – Poliaglutinação (3+) tanto em meio de LISS/Coombs como enzimático. TAD positivo (Poliespecífico 4+; Monoespecíficos - IgG 4+; IgM 3+; C3c 3+; C3d 4+; Título de IgG 1:100); Provas de compatibilidade (PC), com várias unidades de CE, positivas (de pelo menos 2+) . Foi decidido protelar a transfusão por estabilidade hemodinâmica da doente.
No dia seguinte por valor de Hb 2.6g/dL e agravamento do estado clínico, realizou, após administração de Hidrocortisona 200 mg e Clemastina 2mg, transfusão de 1 U de CE compatibilizada no IPST (PC positiva 1+, método em tubo). A transfusão decorreu sem intercorrências, no controlo pós-transfusional (CPT) - Hb 4.0g/dL, com melhoria franca da sintomatologia.
Inicia corticoterapia (Prednisolona 1 mg/Kg/dia).
Foi de novo transfundida dois dias mais tarde, Hb 3,7 g/dL, tendo sido enviada Unidade do (1U CE - IPST - PC negativa) . Não se registaram intercorrências, CPT - Hb 5.4g/dL.
Após 8 dias de Internamento, e a realização de diversos MCDTs foi diagnosticado um Linfoma T Angioimunoblástico.
Conclusão: O Linfoma T Angioimunoblástico pode apresentar-se com um quadro clínico inicial de anemia grave, de instalação rápida, que pelas suas características imunologicas, pode obrigar ao adiamento da transfusão.
REFERÊNCIAS BIBLIOGRÁFICAS
1- Zão, I., Dias, M., Castro, M., Coutinho, R., Cabral, R., Regadas, L., Casais, C., Xavier, L., Gonçalves, C., Mota, A., Pinho, L., Coutinho, J., . Manifestações auto-imunes do linfoma T angioimunoblástico . , 2017, Reunião Anual SPH, PO47
2- Xu, B., Liu. P., No Survival Improvement for Patients with Angioimmunoblastic T-Cell Lymphoma over the Past Two Decades: A Population-Based Study of 1207 Cases, 2014, PLOS ONE, Volume 9, Issue 3; e92585info:eu-repo/semantics/publishedVersio
The Portuguese Severe Asthma Registry: Development, Features, and Data Sharing Policies
Get PDFThe Portuguese Severe Asthma Registry (Registo de Asma Grave Portugal, RAG) was developed by an open collaborative network of asthma specialists. RAG collects data from adults and pediatric severe asthma patients that despite treatment optimization and adequate management of comorbidities require step 4/5 treatment according to GINA recommendations. In this paper, we describe the development and implementation of RAG, its features, and data sharing policies. The contents and structure of RAG were defined in a multistep consensus process. A pilot version was pretested and iteratively improved. The selection of data elements for RAG considered other severe asthma registries, aiming at characterizing the patient's clinical status whilst avoiding overloading the standard workflow of the clinical appointment. Features of RAG include automatic assessment of eligibility, easy data input, and exportable data in natural language that can be pasted directly in patients' electronic health record and security features to enable data sharing (among researchers and with other international databases) without compromising patients' confidentiality. RAG is a national web-based disease registry of severe asthma patients, available at asmagrave.pt. It allows prospective clinical data collection, promotes standardized care and collaborative clinical research, and may contribute to inform evidence-based healthcare policies for severe asthma.info:eu-repo/semantics/publishedVersio
