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1.
CA Cancer J Clin ; 68(2): 97-105, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29369334

RESUMEN

Incidental thyroid nodules that are found on an imaging study performed for reasons other than thyroid pathology represent a common scenario encountered by health care providers. The initial workup for these nodules comprises a thorough history and physical examination, thyroid function tests, a dedicated thyroid ultrasound, and fine-needle aspiration of any suspicious lesions. Management ranges from observation and reassurance to surgical resection and depends on the cytologic diagnosis. In cases of cytologically indeterminate or discordant nodules, surgical excision (lobectomy) offers a definitive diagnosis, although molecular testing or a reasonable period of observation may be useful as less invasive adjuncts. CA Cancer J Clin 2018;68:97-105. © 2018 American Cancer Society.


Asunto(s)
Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/cirugía , Nódulo Tiroideo/diagnóstico , Biopsia con Aguja Fina , Diagnóstico Diferencial , Humanos , Hallazgos Incidentales , Técnicas de Diagnóstico Molecular , Tomografía de Emisión de Positrones/métodos , Guías de Práctica Clínica como Asunto , Pruebas de Función de la Tiroides , Neoplasias de la Tiroides/patología , Nódulo Tiroideo/patología , Nódulo Tiroideo/cirugía , Ultrasonografía/métodos
2.
Stroke ; 55(7): 1951-1955, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38913793

RESUMEN

The decision to treat an incidental finding in an asymptomatic patient results from careful risk-benefit consideration and is often challenging. One of the main aspects is after how many years the group who underwent the intervention and faced the immediate treatment complications will gain a treatment benefit over the conservatively managed group, which maintains a lower but ongoing risk. We identify a common error in decision-making. We illustrate how a risk-based approach using the classical break-even point at the Kaplan-Meier curves can be misleading and advocate for using an outcome-based approach, counting the cumulative number of lost quality-adjusted life years instead. In clinical practice, we often add together the yearly risk of the natural course up to the time point where the number equals the risk of the intervention and assume that the patient will benefit from an intervention beyond this point in time. It corresponds to the crossing of the Kaplan-Meier curves. However, because treatment-related poor outcome occurs at the time of the intervention, while the poor outcome in the conservative group occurs over a given time period, the true benefit of retaining more quality-adjusted life years in the interventional group emerges at a much later time. To avoid overtreatment of patients with asymptomatic diseases, decision-making should be outcome-based with counting the cumulative loss of quality-adjusted life years, rather than risk-based, comparing the interventional risk with the ongoing yearly risk of the natural course.


Asunto(s)
Enfermedades Asintomáticas , Humanos , Años de Vida Ajustados por Calidad de Vida , Hallazgos Incidentales , Toma de Decisiones , Medición de Riesgo , Toma de Decisiones Clínicas , Accidente Cerebrovascular/prevención & control , Estimación de Kaplan-Meier
3.
Hum Mol Genet ; 31(16): 2796-2809, 2022 08 23.
Artículo en Inglés | MEDLINE | ID: mdl-35348702

RESUMEN

In order to report clinically actionable incidental findings in genetic testing, the American College of Medical Genetics and Genomics (ACMG) recommended the evaluation of variants in 59 genes associated with highly penetrant mutations. However, there is a lack of epidemiological data on medically actionable rare variants in these genes in Arab populations. We used whole genome sequencing data from 6045 participants from the Qatar Genome Programme and integrated it with phenotypic data collected by the Qatar Biobank. We identified novel putative pathogenic variants in the 59 ACMG genes by filtering previously unrecorded variants based on computational prediction of pathogenicity, variant rarity and segregation evidence. We assessed the phenotypic associations of candidate variants in genes linked to cardiovascular diseases. Finally, we used a zebrafish knockdown and synthetic human mRNA co-injection assay to functionally characterize two of these novel variants. We assessed the zebrafish cardiac function in terms of heart rate, rhythm and hemodynamics, as well as the heart structure. We identified 52 492 novel variants, which have not been reported in global and disease-specific databases. A total of 74 novel variants were selected with potentially pathogenic effect. We prioritized two novel cardiovascular variants, DSP c.1841A > G (p.Asp614Gly) and LMNA c.326 T > G (p.Val109Gly) for functional characterization. Our results showed that both variants resulted in abnormal zebrafish heart rate, rhythm and structure. This study highlights medically actionable variants that are specific to the Middle Eastern Qatari population.


Asunto(s)
Desmoplaquinas/genética , Hallazgos Incidentales , Lamina Tipo A , Animales , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Humanos , Lamina Tipo A/genética , Qatar , Pez Cebra/genética
4.
Prostate ; 84(8): 731-737, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38506561

RESUMEN

BACKGROUND: In incidental prostate cancer (IPCa), elevated other-cause mortality (OCM) may obviate the need for active treatment. We tested OCM rates in IPCa according to treatment type and cancer grade and we hypothesized that OCM is significantly higher in not-actively-treated patients. METHODS: Within the Surveillance, Epidemiology, and End Results database (2004-2015), IPCa patients were identified. Smoothed cumulative incidence plots as well as multivariable competing risks regression models were fitted to address OCM after adjustment for cancer-specific mortality (CSM). RESULTS: Of 5121 IPCa patients, 3655 (71%) were not-actively-treated while 1466 (29%) were actively-treated. Incidental PCa not-actively-treated patients were older and exhibited higher proportion of Gleason sum (GS) 6 and clinical T1a stage. In smoothed cumulative incidence plots, 5-year OCM was 20% for not-actively-treated versus 8% for actively-treated patients. Conversely, 5-year CSM was 5% for not-actively-treated versus 4% for actively-treated patients. No active treatment was associated with 1.4-fold higher OCM, even after adjustment for age, cancer characteristics, and CSM. According to GS, OCM reached 16%, 27%, and 35% in GS 6, 7, and 8-10 not-actively-treated IPCa patients, respectively and exceeded CSM recorded for the same three groups (2%, 6%, and 28%, respectively). CONCLUSION: Our results quantified OCM rates, confirming that in not-actively-treated IPCa patients OCM is indeed significantly higher than in their actively-treated counterparts (HR: 1.4). These observations validate the use of no active treatment in IPCa patients, in whom OCM greatly surpasses CSM (20% vs. 5%).


Asunto(s)
Hallazgos Incidentales , Neoplasias de la Próstata , Programa de VERF , Humanos , Masculino , Neoplasias de la Próstata/mortalidad , Neoplasias de la Próstata/patología , Neoplasias de la Próstata/tratamiento farmacológico , Anciano , Persona de Mediana Edad , Causas de Muerte , Clasificación del Tumor , Anciano de 80 o más Años , Estados Unidos/epidemiología , Incidencia
5.
Br J Cancer ; 130(9): 1420-1431, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38532104

RESUMEN

Liquid biopsy, a minimally invasive approach for detecting tumor biomarkers in blood, has emerged as a leading-edge technique in cancer precision medicine. New evidence has shown that liquid biopsies can incidentally detect pathogenic germline variants (PGVs) associated with cancer predisposition, including in patients with a cancer for which genetic testing is not recommended. The ability to detect these incidental PGV in cancer patients through liquid biopsy raises important questions regarding the management of this information and its clinical implications. This incidental identification of PGVs raises concerns about cancer predisposition and the potential impact on patient management, not only in terms of providing access to treatment based on the tumor molecular profiling, but also the management of revealing genetic predisposition in patients and families. Understanding how to interpret this information is essential to ensure proper decision-making and to optimize cancer treatment and prevention strategies. In this review we provide a comprehensive summary of current evidence of incidental PGVs in cancer predisposition genes identified by liquid biopsy in patients with cancer. We critically review the methodological considerations of liquid biopsy as a tool for germline diagnosis, clinical utility and potential implications for cancer prevention, treatment, and research.


Asunto(s)
Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Neoplasias , Humanos , Biopsia Líquida/métodos , Neoplasias/genética , Neoplasias/diagnóstico , Neoplasias/patología , Biomarcadores de Tumor/genética , Hallazgos Incidentales , Prevalencia , Pruebas Genéticas/métodos
6.
J Gen Virol ; 105(3)2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38441565

RESUMEN

Tusaviruses in the genus Protoparvovirus of family Parvoviridae were first identified in a diarrhoeic Tunisian child in 2014. Thereafter, high prevalence of a genetically similar virus was demonstrated in faeces from caprine and ovine species in Hungary. Here, we describe an investigation into the cause of scabby lip lesions in a 6 month-old lamb, submitted from a farm experiencing weight loss and scouring in lambs in England. Transmission electron microscopy visualised small circular particles of 18 and 22 nm in diameter in lip lesions identified as tusavirus and flumine parvovirus by Next Generation Sequencing. Liver, kidney, lung, small intestine content and faeces were also strongly positive for the tusavirus DNA as well as 10 % of faecal samples of the flock collected 2 months after the initial lip sampling. NS1 and VP1 amino acid sequences of this tusavirus displayed 99.5 and 92.89 % identity to those of a human tusavirus, respectively. These amino acid identities were at 95.5 and 89.68 % when compared to those of a goat tusavirus. Phylogenetic analysis of the NS1 and VP1 also grouped the virus in the genus Protoparvovirus and close to tusaviruses detected in human, ovine and caprine species. Wider surveillance of the virus indicated a broader geographical distribution for the virus in England. Histology of the lip tissue revealed localised areas of epidermal hyperplasia and hyperkeratosis affecting haired skin, with mild leucocyte infiltration of the subjacent dermis, but no changes to implicate virus involvement. Flumine parvovirus was concluded to be an environment contaminant. Broader studies in prevalence of these virus in UK sheep flocks and human population, animal models and experimental infections could provide insights into the pathogenesis of these novel viruses and their zoonotic potential.


Asunto(s)
Cabras , Neumonía , Niño , Humanos , Ovinos , Animales , Lactante , Hallazgos Incidentales , Labio , Filogenia
7.
Genet Med ; 26(6): 101103, 2024 06.
Artículo en Inglés | MEDLINE | ID: mdl-38411041

RESUMEN

PURPOSE: Participants in the 100,000 Genomes Project, a clinical/research initiative delivered through the UK National Health Service, were offered screening for "additional findings" (AFs): pathogenic/likely pathogenic secondary findings in genes associated with familial hypercholesterolemia or a cancer predisposition syndrome. Understanding the psychological and behavioral responses to secondary findings can inform the clinical utility of a search and disclose policy. METHODS: Thirty-two adult AF recipients took part in semi-structured interviews analyzed using deductive and inductive thematic analysis. RESULTS: Five themes were constructed: cognitive responses to an AF, emotional and psychological responses, personal control, perceived risk of AF-associated disease, and family implications. Many participants had misunderstood or incompletely remembered consent for AFs, and most were surprised or shocked to receive an AF. Although many ultimately appreciated knowing about the risk conferred, some struggled to make sense of their disease risk, which complicated decision making about risk management, particularly for women with a BRCA AF. Recipients sought control through seeking clinical evaluation and information, and informing relatives. Difficulties with conceptualizing risk and lack of AF-associated disease family history meant that some hesitated to inform relatives. CONCLUSION: Genome sequencing programs offering secondary findings require attention to consent processes. Post-disclosure care should aim to promote recipients' perceived personal control.


Asunto(s)
Pruebas Genéticas , Investigación Cualitativa , Humanos , Femenino , Adulto , Masculino , Persona de Mediana Edad , Predisposición Genética a la Enfermedad , Anciano , Hallazgos Incidentales , Reino Unido , Genoma Humano/genética , Revelación
8.
World J Urol ; 42(1): 269, 2024 Apr 28.
Artículo en Inglés | MEDLINE | ID: mdl-38679642

RESUMEN

OBJECTIVE: The cT1a vs. cT1b substratification was introduced in 1992 but never formally tested since. We tested the discriminative ability of cT1a vs. cT1b substaging on cancer-specific survival (CSS) in contemporary incidental prostate cancer (PCa) patients. DESIGN, SETTING AND PARTICIPANTS: Incidental (cT1a/cT1b) PCa patients were identified within the Surveillance, Epidemiology, and End Results (SEER) database (2004-2015). OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Kaplan-Meier estimates, as well as uni- and multivariable Cox regression models predicted CSS at five years. Subgroup analyses addressed CSS at five years according to active vs. no local treatment (NLT) as well as Gleason score sum (GS; 6 vs. 7 vs. ≥ 8). RESULTS AND LIMITATION: We identified a total of 5,155 incidental prostate cancer patients of which 3,035 (59%) were stage cT1a vs. 2,120 (41%) were stage cT1b. In all incidental PCa patients, CSS at five years was 95% (95% CI 0.94-0.96). In cT1a patients, CSS at five years was 98 vs. 90% in cT1b patients (p < 0.001). In multivariable Cox regression analyses, cT1b independently predicted 2.8-fold higher CSM than cT1a (HR 2.5, 95% CI 1.8-3.6, p < 0.001) for incidental PCa patients who underwent NLT. In subgroup analyses, cT1b represented an independent predictor of higher CSM in GS ≥ 8 (HR 3.0, 95% CI 1.4-6.2, p = 0.003), and GS 7 (HR 3.9, 95% CI 1.6-9.7 p = 0.002) patients who underwent NLT. For actively treated patients, cT1b was not independently associated with worse CSM. CONCLUSION: The historical subclassification of cT1a vs. cT1b in incidental PCa patients displayed a strong ability to discriminate CSS in contemporary GS 7 and GS ≥ 8 patients who underwent NLT. However, no statistically significant difference was recorded in actively treated patients. In consequence, the importance of the current substage stratification predominantly applies to GS ≥ 8 patients who undergo a non-active treatment approach.


Asunto(s)
Hallazgos Incidentales , Estadificación de Neoplasias , Neoplasias de la Próstata , Humanos , Masculino , Neoplasias de la Próstata/patología , Neoplasias de la Próstata/mortalidad , Neoplasias de la Próstata/terapia , Anciano , Persona de Mediana Edad , Programa de VERF , Clasificación del Tumor , Tasa de Supervivencia , Estudios Retrospectivos , Estimación de Kaplan-Meier
9.
Eur Radiol ; 34(7): 4218-4229, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38114849

RESUMEN

OBJECTIVES: To establish deep learning models for malignancy risk estimation of sub-centimeter pulmonary nodules incidentally detected by chest CT and managed in clinical settings. MATERIALS AND METHODS: Four deep learning models were trained using CT images of sub-centimeter pulmonary nodules from West China Hospital, internally tested, and externally validated on three cohorts. The four models respectively learned 3D deep features from the baseline whole lung region, baseline image patch where the nodule located, baseline nodule box, and baseline plus follow-up nodule boxes. All regions of interest were automatically segmented except that the nodule boxes were additionally manually checked. The performance of models was compared with each other and that of three respiratory clinicians. RESULTS: There were 1822 nodules (981 malignant) in the training set, 806 (416 malignant) in the testing set, and 357 (253 malignant) totally in the external sets. The area under the curve (AUC) in the testing set was 0.754, 0.855, 0.928, and 0.942, respectively, for models derived from baseline whole lung, image patch, nodule box, and the baseline plus follow-up nodule boxes. When baseline models externally validated (follow-up images not available), the nodule-box model outperformed the other two with AUC being 0.808, 0.848, and 0.939 respectively in the three external datasets. The resident, junior, and senior clinicians achieved an accuracy of 67.0%, 82.5%, and 90.0%, respectively, in the testing set. The follow-up model performed comparably to the senior clinician. CONCLUSION: The deep learning algorithms solely mining nodule information can efficiently predict malignancy of incidental sub-centimeter pulmonary nodules. CLINICAL RELEVANCE STATEMENT: The established models may be valuable for supporting clinicians in routine clinical practice, potentially reducing the number of unnecessary examinations and also delays in diagnosis. KEY POINTS: • According to different regions of interest, four deep learning models were developed and compared to evaluate the malignancy of sub-centimeter pulmonary nodules by CT images. • The models derived from baseline nodule box or baseline plus follow-up nodule boxes demonstrated sufficient diagnostic accuracy (86.4% and 90.4% in the testing set), outperforming the respiratory resident (67.0%) and junior clinician (82.5%). • The proposed deep learning methods may aid clinicians in optimizing follow-up recommendations for sub-centimeter pulmonary nodules and may lead to fewer unnecessary diagnostic interventions.


Asunto(s)
Aprendizaje Profundo , Hallazgos Incidentales , Neoplasias Pulmonares , Tomografía Computarizada por Rayos X , Humanos , Tomografía Computarizada por Rayos X/métodos , Neoplasias Pulmonares/diagnóstico por imagen , Masculino , Femenino , Persona de Mediana Edad , Medición de Riesgo/métodos , Nódulos Pulmonares Múltiples/diagnóstico por imagen , Nódulo Pulmonar Solitario/diagnóstico por imagen , Anciano , Interpretación de Imagen Radiográfica Asistida por Computador/métodos
10.
Am J Hematol ; 99(5): 973-974, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38270251

RESUMEN

Mastocytoma in a colon polyp positive for tryptase, CD117/KIT, S100, weakly positive for CD25.


Asunto(s)
Mastocitoma , Trastornos Mieloproliferativos , Humanos , Hallazgos Incidentales , Proteínas Proto-Oncogénicas c-kit/genética , Colon
11.
J Surg Res ; 295: 253-260, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38048748

RESUMEN

INTRODUCTION: The purpose of this study was to examine the prevalence of incidental findings (IFs) identified during workup of trauma patients and the effectiveness with which they were documented and communicated. MATERIALS AND METHODS: We performed a retrospective analysis of all trauma patients ≥15 y of age in 2018, who underwent at least one computed tomography scan. Patients' Electronic Medical Record was reviewed for the presence of IFs. IFs were classified in three categories: category 1, which includes highly significant findings requiring attention during hospitalization; category 2, which warrants attention in an outpatient basis; and category 3, which includes nonsignificant findings that require no follow-up. RESULTS: 836 patients were identified, of which 582 had at least one IF. Of the patients with IFs; 14 (2.4%) were category 1, 138 (23.7%) were category 2, and 569 (97.8%) met category 3 criteria. All category 1 patients received appropriate documentation of their IFs. Of patients with category 2 findings, only 13% had documentation of the IFs. Patients with IFs had longer length of stay (P: 0.04) and lower probability of being discharged to home (P < 0.01) compared to patients with no IFs. Only 12.5% of the patients admitted to trauma surgery service received an outpatient follow-up. CONCLUSIONS: There was timely documentation and intervention for all patients with category 1 IFs. However, 87% of patients with category 2 IFs had inadequate documentation of the IF and outpatient follow-up. Outpatient follow-up of IFs poses a challenge for trauma patients partially due to their discharge disposition.


Asunto(s)
Hallazgos Incidentales , Tomografía Computarizada por Rayos X , Humanos , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodos , Alta del Paciente , Documentación
12.
J Surg Oncol ; 129(4): 754-764, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38088226

RESUMEN

BACKGROUND: Up to 60% of incidentally detected gallbladder cancers (GBCs) have a primary stage of pathologic T2 stage (pT2), defined by invasion of the peri-adventitial tissue by the tumour, a plane breached during a simple cholecystectomy. This study assesses the impact of incidental detection of pT2 GBCs on survival outcomes. METHODS: Retrospective analysis of pT2 GBCs undergoing a curative resection was performed. Patients who received neoadjuvant chemotherapy before an upfront radical resection were excluded. Outcomes of patients undergoing upfront surgery (uGBC) and incidentally detected tumours (iGBC) were compared. RESULTS: From a total of 1356 patients, 425 patients with pT2 GBCs were included. Of these, 118 (27.7%) and 307 (72.23%) patients were in the uGBC and iGBC groups, respectively. Patients with iGBC had significantly higher locoregional, (62 [19.8%] vs. 11 [9.3%]; p = 0.009), liver, (36 [11.5%] vs. 4 [3.4%]; p = 0.01), and abdominal wall recurrences (23 [7.4%] vs. 1 [0.8%]; p = 0.009). Five-year disease free survival rates were 68.7% and 49.2% in the uGBC and iGBC groups, respectively (p = 0.013). Five-year overall survival rates were 71.7% and 64.6% in the uGBC and iGBC groups, respectively (p = 0.317). CONCLUSIONS: Incidentally detected pT2 GBCs have significantly poorer outcomes compared to similarly staged patients undergoing an upfront radical cholecystectomy.


Asunto(s)
Carcinoma in Situ , Neoplasias de la Vesícula Biliar , Humanos , Neoplasias de la Vesícula Biliar/cirugía , Neoplasias de la Vesícula Biliar/patología , Estudios Retrospectivos , Estadificación de Neoplasias , Colecistectomía , Carcinoma in Situ/patología , Hallazgos Incidentales
13.
Q J Nucl Med Mol Imaging ; 68(2): 143-151, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38860275

RESUMEN

BACKGROUND: 18F-fluorodeoxyglucose (18F-FDG) positron-emission tomography/computed tomography (PET/CT) as an imaging modality for the whole body has shown its value in detecting incidental colorectal adenoma. In clinical practice, adenomatous polyps can be divided into three groups: low-grade intraepithelial neoplasia (LGIN), high-grade intraepithelial neoplasia (HGIN) and cancer, which can lead to different clinical management. However, the relationship between the 18F-FDG PET/CT SUVmax and the histological grade of adenomatous polyps is still not established, which is a challenging but valuable task. METHODS: This retrospective study included 255 patients with colorectal adenoma (CRA) or colorectal adenocarcinomas (AC) who had corresponding 18F-FDG uptake incidentally found on PET/CT. The correlations of SUVmax with pathological characteristics and tumor size were assessed. Neoplasms were divided into LGIN, HGIN, and AC according to histological grade. Receiver operating characteristic (ROC) analysis was applied to evaluate the predictive value of the SUVmax-only model and comprehensive models which were established with imaging and clinical predictors identified by univariate and multivariate analysis. RESULTS: The SUVmax was positively correlated with histological grades (r=0.529, P<0.001). Univariate and multivariate analysis showed that SUVmax was an independent risk factor among all groups except between HGIN and AC. The area under the curves (AUCs) of the comprehensive model for distinguishing between AC and adenoma, LGIN and HIGN, LGIN and AC, and HGIN and AC were 0.886, 0.780, 0.945, 0.733, respectively, which is statistically higher than the AUCs of the SUVmax-only model with 0.812, 0.733, 0.863, and 0.688, respectively. CONCLUSIONS: As an independent risk factor, SUVmax based on 18F-FDG PET/CT is highly associated with the histological grade of CRA. Thus, 18F-FDG PET/CT can serve as a noninvasive tool for precise diagnosis and assist in the preoperative formulation of treatment strategies for patients with incidental CRA.


Asunto(s)
Adenoma , Neoplasias Colorrectales , Fluorodesoxiglucosa F18 , Hallazgos Incidentales , Clasificación del Tumor , Tomografía Computarizada por Tomografía de Emisión de Positrones , Humanos , Masculino , Neoplasias Colorrectales/diagnóstico por imagen , Neoplasias Colorrectales/patología , Femenino , Persona de Mediana Edad , Anciano , Adenoma/diagnóstico por imagen , Adenoma/patología , Estudios Retrospectivos , Adulto , Anciano de 80 o más Años , Valor Predictivo de las Pruebas
14.
J Nucl Cardiol ; 35: 101826, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38387737

RESUMEN

BACKGROUND: Cardiac 18F-fluorodeoxyglucose (FDG)-PET-CT plays an important role in the assessment of cardiovascular diseases. Effective management of urgent scan findings facilitates optimal patient care. METHODS: We characterised the management of urgent, expected and unexpected findings in patients referred for cardiac [18F]fluorodeoxyglucose integrated with computed tomography (FDG-PET-CT) at the Royal Brompton Hospital (United Kingdom). Urgent findings are escalated by the reporting physicians/radiologists raising RadAlert notifications to the referring clinician. We characterised the indications and time to management (TTM) between the RadAlert and the resulting management. As controls, we characterised the TTM of 33 urgent findings identified before the RadAlert system was implemented. RESULTS: Of the 1497 consecutive FDG-PET-CT scans screened (April 2021 to February 2023), 93 RadAlerts were suitable for analysis (TTM 7 days [interquartile range: 2-14]). Expected urgent findings included active cardiac sarcoidosis (56%; TTM 8 days [5-18]), heart transplant rejection (12%; 6 ± 4 days), infective endocarditis (9%; 2 days [1-12]), cardiac device infections (5%; 1 day [0-2]), acute myocarditis (2%; 5 and 14 days) and epicardial mass (1%; 1 day). TTM did not differ significantly between indications (P = 0.06). RadAlert cases had significantly shorter TTM than controls without RadAlert, P = 0.001. After the RadAlerts, 81% of patients had clinical reviews, and 55% had escalation of medical/surgical therapies. Unexpected findings (total N = 45; median TTM 6 days [1-10]) included malignancies (N = 3), infections (N = 2), pneumothorax (N = 1), benign diagnosis (N = 30), unclear diagnosis (N = 5) and 4 findings disappeared on repeat imaging. CONCLUSIONS: Cardiac FDG-PET-CT identifies expected and unexpected findings in a range of cardiovascular diseases. Serious, unexpected findings are rare and can be effectively escalated by the RadAlert system.


Asunto(s)
Enfermedades Cardiovasculares , Fluorodesoxiglucosa F18 , Tomografía Computarizada por Tomografía de Emisión de Positrones , Radiofármacos , Humanos , Masculino , Femenino , Persona de Mediana Edad , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Enfermedades Cardiovasculares/diagnóstico por imagen , Anciano , Adulto , Hallazgos Incidentales
15.
Pediatr Blood Cancer ; 71(7): e30983, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38605509

RESUMEN

BACKGROUND: Neuroblastoma varies widely in risk. Risk indicators in infants with incidental neuroblastoma refine treatment confidence for observation or intervention. The potential of functional imaging, particularly PET/CT, remains to be defined. PROCEDURE: A retrospective review of infants under 18 months diagnosed with incidental neuroblastoma from 2008 to May 2022 in our institute was conducted. Before October 2015, incidental patients were treated similarly to symptomatic cases, undergoing biopsy or surgical excision upon diagnosis (early cohort). Post October 2015 (late cohort), treatment decisions were guided by PET/CT findings, with 18F-DOPA PET/CT confirming diagnosis and staging. For tumors with low 18F-FDG uptake, an expectant observation approach was considered. Patient characteristics, diagnostic methods, image findings at diagnosis, treatment courses, and responses were compared between cohorts. RESULTS: Thirty infants less than 18 months were identified with incidental neuroblastoma and completed PET/CT at diagnosis. The early and late cohorts each comprised 15 patients. In the late cohort, nine out of 15 patients (60%) presented with localized FDG non-avid tumors were offered the option of expectant observation. Of these, seven patients opted for observation, thereby avoiding surgery. Treatment outcomes were comparable between early and late cohorts, except for one mortality of a patient who, despite showing 18F-FDG activity, declined treatment. CONCLUSIONS: This study demonstrates the potential utility of 18F-DOPA and 18F-FDG PET/CT scans in aiding clinical decision-making for infants with localized, incidental neuroblastoma. Given the concerns regarding radiation exposure, such imaging may be valuable for cases with suspected metastasis, initial large tumor size, or growth during follow-up.


Asunto(s)
Dihidroxifenilalanina , Fluorodesoxiglucosa F18 , Neuroblastoma , Tomografía Computarizada por Tomografía de Emisión de Positrones , Radiofármacos , Humanos , Neuroblastoma/diagnóstico por imagen , Neuroblastoma/terapia , Neuroblastoma/patología , Lactante , Masculino , Femenino , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Estudios Retrospectivos , Dihidroxifenilalanina/análogos & derivados , Recién Nacido , Hallazgos Incidentales , Estudios de Factibilidad , Estudios de Seguimiento , Toma de Decisiones Clínicas , Pronóstico
16.
Clin Exp Rheumatol ; 42(4): 905-913, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38683205

RESUMEN

Granulomatosis with polyangiitis (GPA) is an uncommon disorder that mainly involves the upper and lower respiratory tract and kidney, presenting as sinusitis, saddle nose, otitis media, pulmonary nodule and cavity, rapidly progressive glomerulonephritis. It also affects skin, eye, heart, joint and nervous system. Renal involvement in GPA is commonly manifested as necrotising glomerulonephritis, while renal mass is very rare. We herein present two hospitalised cases with fever, pulmonary cavity and renal mass. Clinical course and examinations of the cases, from symptoms to diagnosis, will be discussed in detail, along with a relevant literature review of this unusual renal manifestation.


Asunto(s)
Granulomatosis con Poliangitis , Humanos , Granulomatosis con Poliangitis/complicaciones , Granulomatosis con Poliangitis/tratamiento farmacológico , Granulomatosis con Poliangitis/diagnóstico , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Femenino , Hallazgos Incidentales , Adulto , Biopsia , Riñón/patología , Resultado del Tratamiento
17.
AJR Am J Roentgenol ; 222(5): e2330720, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38353447

RESUMEN

BACKGROUND. The 2022 Society of Radiologists in Ultrasound (SRU) consensus conference recommendations for small gallbladder polyps support management that is less aggressive than earlier approaches and may help standardize evaluation of polyps by radiologists. OBJECTIVE. The purpose of the present study was to assess the interreader agreement of radiologists in applying SRU recommendations for management of incidental gallbladder polyps on ultrasound. METHODS. This retrospective study included 105 patients (75 women and 30 men; median age, 51 years) with a gallbladder polyp on ultrasound (without features highly suspicious for invasive or malignant tumor) who underwent cholecystectomy between January 1, 2003, and January 1, 2021. Ten abdominal radiologists independently reviewed ultrasound examinations and, using the SRU recommendations, assessed one polyp per patient to assign risk category (extremely low risk, low risk, or indeterminate risk) and make a possible recommendation for surgical consultation. Five radiologists were considered less experienced (< 5 years of experience), and five were considered more experienced (≥ 5 years of experience). Interreader agreement was evaluated. Polyps were classified pathologically as nonneoplastic or neoplastic. RESULTS. For risk category assignments, interreader agreement was substantial among all readers (k = 0.710), less-experienced readers (k = 0.705), and more-experienced readers (k = 0.692). For surgical consultation recommendations, inter-reader agreement was substantial among all readers (k = 0.795) and more-experienced readers (k = 0.740) and was almost perfect among less-experienced readers (k = 0.811). Of 10 readers, a median of 5.0 (IQR, 2.0-8.0), 4.0 (IQR, 2.0-7.0), and 0.0 (IQR, 0.0-0.0) readers classified polyps as extremely low risk, low risk, and indeterminate risk, respectively. Across readers, the percentage of polyps classified as extremely low risk ranged from 32% to 72%; as low risk, from 24% to 65%; and as indeterminate risk, from 0% to 8%. Of 10 readers, a median of zero change to 0 (IQR, 0.0-1.0) readers recommended surgical consultation; the percentage of polyps receiving a recommendation for surgical consultation ranged from 4% to 22%. Of a total of 105 polyps, 102 were nonneo-plastic and three were neoplastic (all benign). Based on readers' most common assessments for nonneoplastic polyps, the risk category was extremely low risk for 53 polyps, low risk for 48 polyps, and indeterminate risk for one polyp; surgical consultation was recommended for 16 polyps. CONCLUSION. Ten abdominal radiologists showed substantial agreement for polyp risk categorizations and surgical consultation recommendations, although areas of reader variability were identified. CLINICAL IMPACT. The findings support the overall reproducibility of the SRU recommendations, while indicating opportunity for improvement.


Asunto(s)
Hallazgos Incidentales , Pólipos , Ultrasonografía , Humanos , Femenino , Masculino , Persona de Mediana Edad , Pólipos/diagnóstico por imagen , Pólipos/cirugía , Estudios Retrospectivos , Ultrasonografía/métodos , Adulto , Enfermedades de la Vesícula Biliar/diagnóstico por imagen , Enfermedades de la Vesícula Biliar/cirugía , Anciano , Variaciones Dependientes del Observador , Radiólogos , Sociedades Médicas , Consenso , Guías de Práctica Clínica como Asunto
18.
BMC Cardiovasc Disord ; 24(1): 14, 2024 01 03.
Artículo en Inglés | MEDLINE | ID: mdl-38172682

RESUMEN

BACKGROUND: Spontaneous coronary artery dissection is a rare and important cause of myocardial infarction, especially in young women without other coronary artery disease. This arterial dissection can occur within or between any of the 3 layers. Its predisposing factors include connective tissue diseases (Marfone syndrome, Ehlers-Danlos syndrome), vasculitis (polyarteritis nodosa, systemic lupus erythematosus, and Kawasaki disease), atherosclerosis and fibromuscular dysplasia. Clinical presentations of spontaneous coronary artery dissection are wide spectrum from asymptomatic to acute coronary disease, sustained ventricular arrhythmia and sudden cardiac death. CASE PRESENTATION: We describe A 33-year-old man with history of Hodgkin's lymphoma five years earlier that became a candidate for Patent foramen ovale closure due to recurrent embolic cerebrovascular accident. Before the intervention, coronary angiography incidentally showed dissection in the left main and all major coronary arteries. CONCLUSIONS: Based on our hypothesis, chemoradiotherapy-induced arteriopathies could be consider as a predisposing factor for spontaneous coronary artery dissection.


Asunto(s)
Enfermedad de Hodgkin , Infarto del Miocardio , Masculino , Humanos , Femenino , Adulto , Vasos Coronarios/diagnóstico por imagen , Vasos Coronarios/patología , Enfermedad de Hodgkin/complicaciones , Enfermedad de Hodgkin/diagnóstico por imagen , Enfermedad de Hodgkin/terapia , Hallazgos Incidentales , Infarto del Miocardio/etiología
19.
Colorectal Dis ; 26(6): 1191-1202, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38644666

RESUMEN

AIM: Total proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the treatment of choice for colorectal cancer (CRC) in inflammatory bowel disease. CRC may also be discovered incidentally at IPAA for other indications. We sought to determine whether incidentally found CRC at IPAA was associated with worse outcomes. METHODS: Our institutional pouch registry (1983-2021) was retrospectively reviewed. Patients with CRC at pathology after IPAA were divided into two groups: a preoperative diagnosis (PreD) group and an incidental diagnosis (InD) group. Their long-term outcomes (overall survival, disease-free survival and pouch survival) were compared. RESULTS: We included 164 patients: 53 (32%) InD and 111 (68%) PreD. There were no differences in cancer staging, differentiation and location. After a median follow-up of 11 (IQR 3-25) years for InD and 9 (IQR 3-20) years for the PreD group, deaths were 14 (26%) in the InD group and 18 (16%) in the PreD group. Pouch failures were five (9%) in the InD group and nine (8%) in the PreD group, of which two (5%) and four (4%) were cancer related. Ten-year overall survival was 94% for InD and 89% for PreD (P = 0.41), disease-free survival was 95% for InD and 90% for PreD (P = 0.685) and pouch survival was 89% for InD and 97% for PreD (P = 0.80). Pouch survival at 10 years was lower in rectal versus colon cancer (87% vs. 97%, P = 0.01). No difference was found in outcomes in handsewn versus stapled anastomoses. CONCLUSION: Inflammatory bowel disease patients with incidentally found CRC during IPAA appear to have similarly excellent oncological and pouch outcomes to patients with a preoperative cancer diagnosis.


Asunto(s)
Reservorios Cólicos , Neoplasias Colorrectales , Hallazgos Incidentales , Enfermedades Inflamatorias del Intestino , Proctocolectomía Restauradora , Humanos , Proctocolectomía Restauradora/efectos adversos , Proctocolectomía Restauradora/métodos , Femenino , Masculino , Estudios Retrospectivos , Persona de Mediana Edad , Adulto , Neoplasias Colorrectales/cirugía , Neoplasias Colorrectales/patología , Enfermedades Inflamatorias del Intestino/cirugía , Enfermedades Inflamatorias del Intestino/complicaciones , Reservorios Cólicos/efectos adversos , Resultado del Tratamiento , Supervivencia sin Enfermedad , Periodo Preoperatorio , Sistema de Registros
20.
J Med Genet ; 60(7): 685-691, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36446584

RESUMEN

BACKGROUND/OBJECTIVES: Exome sequencing may identify pathogenic variants unrelated with the purpose of the analysis. We investigated the frequency of secondary and incidental findings (SF/IF) in cancer susceptibility genes (CSG), their clinical actionability and the psychological impact in individuals with an SF/IF (cases) compared with individuals tested due to their cancer history (controls). METHODS: This study analysed 533 exomes ordered for non-cancer conditions. Medical records were reviewed for clinical actionability of SF/IF. Psychological impact was analysed using the Multidimensional Impact of Cancer Risk Assessment (MICRA) scale and compared between cases and controls with a propensity score weighting method. RESULTS: The frequency of SF/IF in CSG was 2.1% (95% CI 1.1% to 3.8%): three BRCA2, three PMS2, two SDHB, and one each in BRCA1, MLH1 and RAD51C. Among the relatives, 18 were carriers. Twenty enrolled for surveillance, and a neoplasm was diagnosed in 20%: three paragangliomas and one breast cancer. Cases presented higher MICRA mean scores than controls (21.3 vs 16.2 in MICRA total score, 6.3 vs 4.2 in the distress subscale, and 8.3 vs 6.6 in the uncertainty subscale; all p<0.001). CONCLUSION: SF/IF in CSG were identified in 2.1% of patients. Despite a numerically higher psychological impact, the identification of SF/IF allowed early detection and cancer prevention in families without cancer history.


Asunto(s)
Neoplasias de la Mama , Predisposición Genética a la Enfermedad , Humanos , Femenino , Secuenciación del Exoma , Hallazgos Incidentales , Neoplasias de la Mama/genética , Genes BRCA2
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