O diagnóstico do carcinoma metastático de coróide pela biópsia aspirativa com agulha fina (BAAF): relato de caso The diagnosis of metastatic carcinoma of the choroid using fine-needle aspiration biopsy (FNAB): case report

OBJETIVO: Relatar o caso de um paciente com carcinoma de pulmão cuja primeira metástase detectada foi em coróide e a abordagem diagnóstica deste caso. MÉTODOS: Um homem de 35 anos, em tratamento devido a uma condensação pulmonar isolada, referiu baixa da acuidade visual súbita, dor, secreção e olho vermelho (olho direito) há 10 dias. Ao exame oftalmológico foi detectada a presença de descolamento não regmatogênico de retina e múltiplos focos tumorais em coróide confirmado pela ultra-sonografia ocular diagnóstica. Foi sugerida biópsia aspirativa com agulha fina (BAAF) para diagnosticar possível doença metastática. A biópsia aspirativa com agulha fina foi realizada sob anestesia peribulbar e sedação. A rota escolhida foi transvítrea através de esclerotomia a 4 mm do limbo. O procedimento foi monitorado via oftalmoscopia binocular indireta. Foram obtidas 2 amostras de focos tumorais diferentes. Após a biópsia aspirativa com agulha fina, as amostras foram encaminhadas para processamento, fixação e coloração pelos métodos Papanicolaou e hematoxilina-eosina. RESULTADOS: A citologia confirmou a suspeita de múltiplos focos metastáticos coroídeos. Os aspirados ocular e pulmonar revelaram ser de mesma origem devido à reação positiva com pan-citoqueratina (AE1/AE3). O paciente evoluiu para óbito 4 meses após diagnóstico citológico de carcinoma metastático ocular. CONCLUSÕES: A biópsia aspirativa com agulha fina foi eficiente em diagnosticar e correlacionar a citologia ocular com o tumor primário por métodos citoquímicos neste caso. A biópsia aspirativa com agulha fina ainda deve ser usada em casos selecionados e pesquisas futuras serão necessárias para que este procedimento diagnóstico seja considerado padrão em oftalmologia.<br>PURPOSE: To report a case of a patient with lung carcinoma in which the first detected metastasis was to the choroid, how it was diagnosed and confirmed. METHODS: A 35 year-old white male, while being treated for a solitary pulmonary condensation, reported sudden loss of vision, pain, discharge and red eye (right eye) for 10 days. During the ophthalmic examination a nonregmatogenous retinal detachment as well as multiple choroidal tumors were confirmed by diagnostic ocular ultrasound. Fine-needle aspiration biopsy (FNAB) was suggested to diagnose a possible metastatic disease. Fine-needle aspiration biopsy was performed under peribulbar anesthesia with sedation. A transvitreous route was chosen through a sclerotomy 4 mm from the limbus. The procedure was monitored via binocular indirect ophthalmoscopy. Two sample aspirates were obtained from different tumour foci. After fine-needle aspiration biopsy, the aspirates were sent for processing, fixation and stained with Papanicolaou and HE. RESULTS: Cytology confirmed the diagnosis of multiple metastatic tumors. Immunocytochemistry of ocular and lung aspirates revealed a common cell origin by a pankeratin (AE1/AE3) positive test. Regardless of systemic treatment with chemotherapy and improvement of the ocular status, the patient died 4 months after cytological diagnosis of metastatic carcinoma of the choroid. CONCLUSIONS: Fine-needle aspiration biopsy was efficient to diagnose and correlate ocular cytology with the primary tumor by imunohistochemical methods in this case. Fine-needle aspiration biopsy should still be used only in selected cases and further research will be necessary for it to become a standard diagnostic procedure in ophthalmology

Intrafamilial clinical variability in four families with incontinentia pigmenti

Incontinentia Pigmenti (IP) is an X-linked rare genodermatosis caused by mutations in the IKBKG gene, which is essential to NF-κB pathway activation and thus fundamental for cell survival. Our objective was to study the intrafamilial clinical variability in IP by investigating how the signs of IP, and especially dental anomalies, vary within affected families. Four families, encompassing a total of 15 IP familial cases, were included in the study. The patients were subjected to clinical examination and collection of family histories for assessment of intrafamilial clinical variability. All familial cases carried the IKBKGdel recurrent deletion. A noticeable intrafamilial clinical variability was observed in all studied families, with mild and severe cases co-occurring within a same family. Additionally, to best of our knowledge, our study was the first to address the variability of dental defects within IP families, and here too, our results reveal remarkable differences among affected relatives. A number of as yet unidentified genes might act as modifiers, influencing disease expressivity. Our study found important clinical variability within four IP families and contributes to the understanding of the genetic background involved in IP expressivity

Current preventive strategies and management of Epstein-Barr virus-related post-transplant lymphoproliferative disease in solid organ transplantation in Europe. Results of the ESGICH Questionnaire-based Cross-sectional Survey

There is limited clinical evidence on the utility of the monitoring of Epstein-Barr virus (EBV) DNAemia in the pre-emptive management of post-transplant lymphoproliferative disease (PTLD) in solid organ transplant (SOT) recipients. We investigated current preventive measures against EBV-related PTLD through a web-based questionnaire sent to 669 SOT programmes in 35 European countries. This study was performed on behalf of the ESGICH study group from the European Society of Clinical Microbiology and Infectious Diseases. A total of 71 SOT programmes from 15 European countries participated in the study. EBV serostatus of the recipient is routinely obtained in 69/71 centres (97%) and 64 (90%) have access to EBV DNAemia assays. EBV monitoring is routinely used in 85.9% of the programmes and 77.4% reported performing pre-emptive treatment for patients with significant EBV DNAemia levels. Pre-emptive treatment for EBV DNAemia included reduction of immunosuppression in 50.9%, switch to mammalian target of rapamycin inhibitors in 30.9%, and use of rituximab in 14.5% of programmes. Imaging by whole-body 18-fluoro-deoxyglucose positron emission tomography (FDG-PET) is used in 60.9% of centres to rule out PTLD and complemented computer tomography is used in 50%. In 10.9% of centres, FDG-PET is included in the first-line diagnostic workup in patients with high-risk EBV DNAemia. Despite the lack of definitive evidence, EBV load measurements are frequently used in Europe to guide diagnostic workup and pre-emptive reduction of immunosuppression. We need prospective and controlled studies to define the impact of EBV monitoring in reducing the risk of PTLD in SOT recipients

Cytomegalovirus infection management in solid organ transplant recipients across European centers in the time of molecular diagnostics: An ESGICH survey

Background: Scant information is available about how transplant centers are managing their use of quantitative molecular testing (QNAT) assays for active cytomegalovirus (CMV) infection monitoring in solid organ transplant (SOT) recipients. The current study was aimed at gathering information on current practices in the management of CMV infection across European centers in the era of molecular testing assays. Methods: A questionnaire-based cross-sectional survey study was conducted by the European Study Group of Infections in Immunocompromised Hosts (ESGICH) of the Society of Clinical Microbiology and Infectious Diseases (ESCMID). The invitation and a weekly reminder with a personal link to an Internet service provider (https://es.surveymonkey.com/) was sent to transplant physicians, transplant infectious diseases specialists, and clinical virologists working at 340 European transplant centers. Results: Of the 1181 specialists surveyed, a total of 173 responded (14.8%): 73 transplant physicians, 57 transplant infectious diseases specialists, and 43 virologists from 173 institutions located at 23 different countries. The majority of centers used QNAT assays for active CMV infection monitoring. Most centers preferred commercially available real-time polymerase chain reaction (RT-PCR) assays over laboratory-developed procedures for quantifying CMV DNA load in whole blood or plasma. Use of a wide variety of DNA extraction platforms and RT-PCR assays was reported. All programs used antiviral prophylaxis, preemptive therapy, or both, according to current guidelines. However, the centers used different criteria for starting preemptive antiviral treatment, for monitoring systemic CMV DNA load, and for requesting genotypic assays to detect emerging CMV-resistant variants. Conclusions: Significant variation in CMV infection management in SOT recipients still remains across European centers in the era of molecular testing. International multicenter studies are required to achieve commutability of CMV testing and antiviral management procedures

The surgical safety checklist and patient outcomes after surgery: a prospective observational cohort study, systematic review and meta-analysis

© 2017 British Journal of Anaesthesia Background: The surgical safety checklist is widely used to improve the quality of perioperative care. However, clinicians continue to debate the clinical effectiveness of this tool. Methods: Prospective analysis of data from the International Surgical Outcomes Study (ISOS), an international observational study of elective in-patient surgery, accompanied by a systematic review and meta-analysis of published literature. The exposure was surgical safety checklist use. The primary outcome was in-hospital mortality and the secondary outcome was postoperative complications. In the ISOS cohort, a multivariable multi-level generalized linear model was used to test associations. To further contextualise these findings, we included the results from the ISOS cohort in a meta-analysis. Results are reported as odds ratios (OR) with 95% confidence intervals. Results: We included 44 814 patients from 497 hospitals in 27 countries in the ISOS analysis. There were 40 245 (89.8%) patients exposed to the checklist, whilst 7508 (16.8%) sustained ≥1 postoperative complications and 207 (0.5%) died before hospital discharge. Checklist exposure was associated with reduced mortality [odds ratio (OR) 0.49 (0.32–0.77); P\u3c0.01], but no difference in complication rates [OR 1.02 (0.88–1.19); P=0.75]. In a systematic review, we screened 3732 records and identified 11 eligible studies of 453 292 patients including the ISOS cohort. Checklist exposure was associated with both reduced postoperative mortality [OR 0.75 (0.62–0.92); P\u3c0.01; I2=87%] and reduced complication rates [OR 0.73 (0.61–0.88); P\u3c0.01; I2=89%). Conclusions: Patients exposed to a surgical safety checklist experience better postoperative outcomes, but this could simply reflect wider quality of care in hospitals where checklist use is routine