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1.
Gynecol Oncol ; 190: 250-254, 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39260121

RESUMEN

OBJECTIVE: Cascade testing for hereditary cancer syndromes allows relatives to estimate cancer risk and pursue prevention and early detection strategies. The current paradigm relies on patient coordinated care, resulting in only one-third of relatives successfully completing testing. Studies suggest that team-based approaches, where clinicians facilitate testing, can increase uptake. As institutions consider implementing such programs, understanding patient characteristics associated with interest is crucial for resource allocation. We aim to assess interest in clinician-facilitated testing and evaluate barriers. METHODS: Patients with cancer-associated pathogenic variants seen at a gynecologic oncology clinic were offered clinician-facilitated cascade testing. Patient interest and demographic variables were recorded and patients that declined were interviewed regarding the decision. RESULTS: From 11/2023-4/2024, 139 patients were offered clinician-facilitated cascade testing. Median patient age was 43 years (IQR 17), 97 (69.8 %) self-identified as White and 101 (72.7 %) as non-Hispanic. Fifty-six (40.3 %) patients harbored a BRCA1 pathogenic variant, 37 (26.6 %) BRCA2, and 46 (33.1 %) other cancer-associated genes. Fifty-seven (41.0 %) patients expressed interest in the intervention. Interested patients were more likely to have been diagnosed in the prior year vs. patients who were not interested on univariate (OR 4.6, 95 % CI 2.0-10.2, P = 0.0002) and multivariable analyses (adjusted OR 3.8, 95 % CI 1.622-9.009, P = 0.0022). CONCLUSIONS: Our study demonstrates that patients are almost five time more likely to be interested in cascade genetic testing within the first year of diagnosis of a pathogenic variant. Given the utility of such programs and their resource requirements, targeting this population could maximize effectiveness and uptake of cascade services.

2.
BMJ Open ; 14(9): e082658, 2024 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-39237276

RESUMEN

INTRODUCTION: In the USA, up to 95% of individuals harbouring cancer-predisposing germline pathogenic variants have not been identified despite recommendations for screening at the primary care level. METHODS AND ANALYSIS: Our primary objective is to use a two-arm, single-institution randomised controlled trial to compare the proportion of eligible patients that are recommended genetic testing for hereditary cancer syndromes using a digital tool versus clinician interview for genetic cancer risk assessment in an urban academic gynaecology clinic. New gynaecology patients will be consented and randomised 1:1 to either the intervention arm, in which a digital tool is used for genetic cancer risk assessment, or usual care, in which the clinician performs genetic cancer risk assessment. Individuals will be considered eligible for hereditary cancer syndrome genetic testing if criteria set forth by the National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology are met. Eligible patients are 18 years or older, speak and read English, have not yet undergone hereditary cancer genetic testing and have access to a smartphone. The study aims to enrol 50 patients in each arm to allow for 80% power with two-tailed alpha of 5% to detect a 20% difference in proportion of eligible patients recommended for genetic testing. The primary outcome is the proportion of eligible individuals recommended genetic testing in the digital tool arm versus usual care arm, analysed using the χ2 or Fisher's exact test as appropriate for sample size. The secondary outcome is completion of genetic testing, as well as exploration of patient factors, particularly social determinants of health, which may affect the receipt, utilisation and experience with genetic services. ETHICS AND DISSEMINATION: This study has been approved by the Weill Cornell Institutional Review Board (Protocol No. 21-11024123). Participants will be informed of the benefits and risks of participation prior to consent. Dissemination of data will be deidentified and conducted through academic conferences and journals. Patients identified to be eligible for genetic testing who did not receive counselling from their providers will be contacted; participants will not receive direct notification of trial results. REGISTRATION DETAILS: This trial is registered at clinicaltrials.gov (NCT05562778) in September 2022. PROTOCOL VERSION: This is protocol version 1, as of 22 May 2024. COUNTRIES OF RECRUITMENT AND RECRUITMENT STATUS: USA, currently recruiting. HEALTH CONDITIONS/PROBLEMS STUDIED: Genetic predisposition to cancers such as breast, ovarian, uterine and pancreatic. DEIDENTIFIED INDIVIDUAL CLINICAL TRIAL PARTICIPANT-LEVEL DATA IDP SHARING STATEMENT: IDP will not be shared. TRIAL REGISTRATION NUMBER: NCT05562778.


Asunto(s)
Pruebas Genéticas , Humanos , Pruebas Genéticas/métodos , Femenino , Medición de Riesgo/métodos , Ensayos Clínicos Controlados Aleatorios como Asunto , Predisposición Genética a la Enfermedad , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/diagnóstico
4.
Lupus ; 33(9): 938-947, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38860319

RESUMEN

OBJECTIVE: To study the risk of lupus nephritis flare (LNF) or severe lupus flare (SLF) as a function of B cell count kinetics in lupus nephritis (LN) patients after they achieve at least a partial renal response (PRR) with induction treatment that includes rituximab (RTX) and/or belimumab (BLM). METHODS: We performed a retrospective analysis of a cohort of 19 patients with severe LN that received a B cell agent (BCA), RTX and/or BLM, as part of an initial treatment regimen for an LN flare and had subsequent CD19+ B cell measurements in peripheral blood. We then characterized the follow-up periods, after B cell depressions occurred and PRR were achieved, by the corresponding trajectories of B cell counts (BCC). Time periods with sustained low BCC were type 1 (T1) episodes, while those with repletion of BCC>100 cells/µL were called type 2 (T2) episodes. Time periods with rapid BCC repletion, defined as >50 cells/µL in ≤6 months, were called T2b episodes. Corresponding C3, C4, and anti-dsDNA levels were recorded for each episode. The time from PRR until an event, either a LNF or SLF, or to censoring, either at the end of the study period or the end of available patient follow-up, was assessed for each episode type. Kaplan-Meier survival analysis was used to compare time to flare between T1 and T2 episodes. RESULTS: There were 26 episodes of B cell depression. Seventeen (65%) were T1 and 9 (35%) were T2. Compared to T1 episodes, T2 episodes were 9.0 times more likely to result in flare over the follow-up period (hazard ratio (HR) = 9.0, 95% CI for HR = 2.2-36.7); this risk was even larger for T2b vs T1 episodes. Median BCC was 14 cells/µL in T1 and 160 cells/µL in T2 episodes. Both C3 and C4 levels significantly increased over the duration of the episode in T1 episodes only. CONCLUSION: Sustained low BCC was associated with prolonged serologic and clinical response, whereas repletion, and particularly rapid repletion, of B cells after treatment with BCA was associated with subsequent disease flare.


Asunto(s)
Anticuerpos Monoclonales Humanizados , Linfocitos B , Nefritis Lúpica , Rituximab , Humanos , Nefritis Lúpica/tratamiento farmacológico , Nefritis Lúpica/inmunología , Rituximab/uso terapéutico , Rituximab/efectos adversos , Femenino , Estudios Retrospectivos , Adulto , Masculino , Linfocitos B/efectos de los fármacos , Linfocitos B/inmunología , Anticuerpos Monoclonales Humanizados/uso terapéutico , Recuento de Linfocitos , Persona de Mediana Edad , Resultado del Tratamiento , Inmunosupresores/uso terapéutico , Adulto Joven , Brote de los Síntomas , Factores Inmunológicos/uso terapéutico
5.
Respirology ; 29(9): 803-814, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38806394

RESUMEN

BACKGROUND AND OBJECTIVE: Robotic-assisted bronchoscopy (RAB) is an emerging modality to sample pulmonary lesions. Cone-beam computed tomography (CBCT) can be incorporated into RAB. We investigated the magnitude and predictors of patient and staff radiation exposure during mobile CBCT-guided shape-sensing RAB. METHODS: Patient radiation dose was estimated by cumulative dose area product (cDAP) and cumulative reference air kerma (cRAK). Staff equivalent dose was calculated based on isokerma maps and a phantom simulation. Patient, lesion and procedure-related factors associated with higher radiation doses were identified by logistic regression models. RESULTS: A total of 198 RAB cases were included in the analysis. The median patient cDAP and cRAK were 10.86 Gy cm2 (IQR: 4.62-20.84) and 76.20 mGy (IQR: 38.96-148.38), respectively. Among staff members, the bronchoscopist was exposed to the highest median equivalent dose of 1.48 µSv (IQR: 0.85-2.69). Both patient and staff radiation doses increased with the number of CBCT spins and targeted lesions (p < 0.001 for all comparisons). Patient obesity, negative bronchus sign, lesion size <2.0 cm and inadequate sampling by on-site evaluation were associated with a higher patient dose, while patient obesity and inadequate sampling by on-site evaluation were associated with a higher bronchoscopist equivalent dose. CONCLUSION: The magnitude of patient and staff radiation exposure during CBCT-RAB is aligned with safety thresholds recommended by regulatory authorities. Factors associated with a higher radiation exposure during CBCT-RAB can be identified pre-operatively and solicit procedural optimization by reinforcing radiation protective measures. Future studies are needed to confirm these findings across multiple institutions and practices.


Asunto(s)
Broncoscopía , Tomografía Computarizada de Haz Cónico , Exposición a la Radiación , Procedimientos Quirúrgicos Robotizados , Humanos , Tomografía Computarizada de Haz Cónico/métodos , Broncoscopía/métodos , Broncoscopía/efectos adversos , Masculino , Femenino , Exposición a la Radiación/efectos adversos , Persona de Mediana Edad , Procedimientos Quirúrgicos Robotizados/efectos adversos , Exposición Profesional/efectos adversos , Anciano , Dosis de Radiación , Fantasmas de Imagen , Adulto , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/radioterapia
6.
Front Endocrinol (Lausanne) ; 15: 1350318, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38501109

RESUMEN

Introduction: Despite evidence from preclinical studies suggesting estrogen's neuroprotective effects, the use of menopausal hormone therapy (MHT) to support cognitive function remains controversial. Methods: We used random-effect meta-analysis and multi-level meta-regression to derive pooled standardized mean difference (SMD) and 95% confidence intervals (C.I.) from 34 randomized controlled trials, including 14,914 treated and 12,679 placebo participants. Results: Associations between MHT and cognitive function in some domains and tests of interest varied by formulation and treatment timing. While MHT had no overall effects on cognitive domain scores, treatment for surgical menopause, mostly estrogen-only therapy, improved global cognition (SMD=1.575, 95% CI 0.228, 2.921; P=0.043) compared to placebo. When initiated specifically in midlife or close to menopause onset, estrogen therapy was associated with improved verbal memory (SMD=0.394, 95% CI 0.014, 0.774; P=0.046), while late-life initiation had no effects. Overall, estrogen-progestogen therapy for spontaneous menopause was associated with a decline in Mini Mental State Exam (MMSE) scores as compared to placebo, with most studies administering treatment in a late-life population (SMD=-1.853, 95% CI -2.974, -0.733; P = 0.030). In analysis of timing of initiation, estrogen-progestogen therapy had no significant effects in midlife but was associated with improved verbal memory in late-life (P = 0.049). Duration of treatment >1 year was associated with worsening in visual memory as compared to shorter duration. Analysis of individual cognitive tests yielded more variable results of positive and negative effects associated with MHT. Discussion: These findings suggest time-dependent effects of MHT on certain aspects of cognition, with variations based on formulation and timing of initiation, underscoring the need for further research with larger samples and more homogeneous study designs.


Asunto(s)
Cognición , Terapia de Reemplazo de Hormonas , Femenino , Humanos , Cognición/efectos de los fármacos , Terapia de Reemplazo de Estrógeno , Estrógenos/uso terapéutico , Terapia de Reemplazo de Hormonas/métodos , Progestinas/uso terapéutico
9.
Ann Surg Oncol ; 31(3): 1714-1724, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38006526

RESUMEN

BACKGROUND: Prior studies have shown tumor specificity on the impact of longer time interval from diagnosis to surgery, however in gastric cancer (GC) this remains unclear. We aimed to determine if a longer time interval from diagnosis to surgery had an impact on lymph node (LN) upstaging and overall survival (OS) outcomes among patients with clinically node negative (cN0) GC. PATIENTS AND METHODS: Patients diagnosed with cN0 GC undergoing surgery between 2004-2018 were identified in the National Cancer Database (NCDB) and divided into intervals between time of diagnosis and surgery [short interval (SI): ≥ 4 days to < 8 weeks and long interval (LI): ≥ 8 weeks]. Multivariable regression analysis evaluated the independent impact of surgical timing on LN upstaging and a Cox proportional hazards analysis and Kaplan-Meier curves evaluated survival outcomes. RESULTS: Of 1824 patients with cN0 GC, 71.8% had a SI to surgery and 28.1% had a LI to surgery. LN upstaging was seen more often in the SI group when compared to LI group (82% versus 76%, p = 0.004). LI to surgery showed to be an independent factor protective against LN upstaging [adjusted odds ratio = 0.62, 95% CI: (0.39-0.99)]. Multivariate Cox regression analysis indicated that time to surgery was not associated with a difference in overall survival [hazard ratio (HR) = 0.91, 95% CI: (0.71-1.17)], however uncontrolled Kaplan-Meier curves showed OS difference between the SI and LI to surgery groups (p = 0.037). CONCLUSION: Timing to surgery was not a predictor of LN upstaging or overall survival, suggesting that additional medical optimization in preparation for surgery and careful preoperative staging may be appropriate in patients with node negative early stage GC without affecting outcomes.


Asunto(s)
Neoplasias Gástricas , Humanos , Neoplasias Gástricas/patología , Estadificación de Neoplasias , Ganglios Linfáticos/patología , Modelos de Riesgos Proporcionales , Análisis Multivariante , Estudios Retrospectivos , Escisión del Ganglio Linfático
11.
Laryngoscope ; 134(5): 2115-2120, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-37942834

RESUMEN

OBJECTIVE: An increased prevalence of mood and anxiety disorders in patients with dysphagia has been noted previously, but whether dysphagia severity may be exacerbated by anxiety and depression has never been studied before. The purpose of this study is to identify the effect of pre-existing diagnosis of anxiety and/or depression (anxiety/depression) on the Eating Assessment Tool (EAT-10), a validated patient-reported outcome measure for dysphagia. We hypothesized that patients with dysphagia and normal instrumental evaluation have higher EAT-10 score in the presence of pre-existing anxiety and depression. METHODS: A retrospective chart review was conducted of patients seen at the multi-disciplinary dysphagia clinic of an urban academic institution. EAT-10 scores and pre-existing diagnoses of anxiety/depression were collected at the first visit with laryngologists. The two-sample t-test was used to compare mean EAT-10 scores between the anxiety/depression and no anxiety/depression groups, stratified by swallowing dysfunction etiology. RESULTS: The study included 290 consecutive patients seen starting in January 2018. In this cohort, 60 (21%) had pre-existing anxiety, 49 (17%) depression, and 36 (12%) both. Overall, 59 patients had normal swallowing based on instrumental swallowing testing (flexible endoscopic evaluation of swallowing, videofluoroscopic swallow study, esophagram, or esophagoscopy). Among those, mean EAT-10 score was significantly higher in patients with anxiety and/or depression (n = 30) (14.63, SD = 11.42) compared to those with no anxiety and/or depression (n = 29) (8.93, SD = 6.59) (p = 0.023). CONCLUSION: While anxiety/depression may aggravate dysphagia in patients with normal swallowing function, this correlation may not hold in those with objective swallowing dysfunction. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:2115-2120, 2024.


Asunto(s)
Trastornos de Deglución , Humanos , Trastornos de Deglución/diagnóstico , Trastornos de Deglución/etiología , Depresión/complicaciones , Depresión/diagnóstico , Estudios Retrospectivos , Deglución , Ansiedad/complicaciones , Ansiedad/diagnóstico , Trastornos de Ansiedad/complicaciones
12.
Int Forum Allergy Rhinol ; 14(4): 873-875, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37922236

RESUMEN

KEY POINTS: This is the first study to quantify the accuracy, sensitivity, and specificity of the human olfactory system in detecting peanuts in common food items. With more competing sensory input, the human olfactory sensitivity to peanuts decreases; this is especially evident when peanuts are mixed in sauces. Metrics established in this study can be used to develop standards for determining the clinical utility of allergen detecting devices that are currently under development.


Asunto(s)
Arachis , Hipersensibilidad a los Alimentos , Humanos , Alérgenos , Alimentos
13.
Surg Oncol ; 52: 102032, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38159364

RESUMEN

OBJECTIVE: With the growing global incidence of thyroid carcinomas, there is an increasing need for distinct guidelines for isthmus-confined carcinomas. Here, we performed the first systematic review on the topic to date, aiming to provide understanding to isthmusectomy as surgical management for well-differentiated thyroid carcinoma of the isthmus. METHODS: We conducted a systematic review following the PRISMA guidelines, analyzing English-language studies from the past decade that report on thyroid isthmusectomy. Exclusion criteria included isthmusectomy performed alongside full thyroidectomy or partial thyroid lobectomy, lack of data on tumor characteristics or survival outcomes, and non-English publications where a translation was unavailable. Our review identified a total of 227 patients from seven studies. RESULTS: The average 5-year overall survival and disease-free survival rates for patients with isthmus-confined PTC who underwent isthmusectomy were 100 % and 93.1 %, respectively. Similar to that of total thyroidectomy. 3.1 % of patients required completion thyroidectomy. Furthermore, isthmusectomy resulted in fewer surgical complications than total thyroidectomy. CONCLUSIONS: The scarcity of studies providing detailed tumor characteristics and patient outcomes limits our ability to fully evaluate the safety and efficacy of isthmusectomy for isthmus-confined PTC. Additionally, the variable sample sizes and restricted geographic distribution of the included studies calls into questions the generalizability of their findings. Despite these limitations, the data suggest that isthmusectomy may be a viable surgical option for select patients with small, isthmus-confined PTC. In the absence of a randomized controlled trial on the noninferiority of isthmusectomy, significantly more publications are needed before strong conclusions can be drawn.


Asunto(s)
Neoplasias de la Tiroides , Tiroidectomía , Humanos , Pronóstico , Tasa de Supervivencia , Neoplasias de la Tiroides/cirugía , Neoplasias de la Tiroides/patología , Tiroidectomía/normas , Tiroidectomía/estadística & datos numéricos
14.
Nat Commun ; 14(1): 8435, 2023 Dec 19.
Artículo en Inglés | MEDLINE | ID: mdl-38114518

RESUMEN

We previously reported the results of a randomized phase II trial (NCT02904954) in patients with early-stage non-small cell lung cancer (NSCLC) who were treated with either two preoperative cycles of the anti-PD-L1 antibody durvalumab alone or combined with immunomodulatory doses of stereotactic radiation (DRT). The trial met its primary endpoint of major pathological response, which was significantly higher following DRT with no new safety signals. Here, we report on the prespecified secondary endpoint of disease-free survival (DFS) regardless of treatment assignment and the prespecified exploratory analysis of DFS in each arm of the trial. DFS at 2 and 3 years across patients in both arms of the trial were 73% (95% CI: 62.1-84.5) and 65% (95% CI: 52.5-76.9) respectively. For the exploratory endpoint of DFS in each arm of the trial, three-year DFS was 63% (95% CI: 46.0-80.4) in the durvalumab monotherapy arm compared to 67% (95% CI: 49.6-83.4) in the dual therapy arm. In addition, we report post hoc exploratory analysis of progression-free survival as well as molecular correlates of response and recurrence through high-plex immunophenotyping of sequentially collected peripheral blood and gene expression profiles from resected tumors in both treatment arms. Together, our results contribute to the evolving landscape of neoadjuvant treatment regimens for NSCLC and identify easily measurable potential biomarkers of response and recurrence.


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas , Neoplasias Pulmonares , Carcinoma Pulmonar de Células Pequeñas , Humanos , Anticuerpos Monoclonales/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Carcinoma de Pulmón de Células no Pequeñas/tratamiento farmacológico , Neoplasias Pulmonares/tratamiento farmacológico , Terapia Neoadyuvante , Carcinoma Pulmonar de Células Pequeñas/tratamiento farmacológico , Ensayos Clínicos Controlados Aleatorios como Asunto , Ensayos Clínicos Fase II como Asunto
15.
Front Aging Neurosci ; 15: 1260427, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37937120

RESUMEN

Introduction: Despite a large preclinical literature demonstrating neuroprotective effects of estrogen, use of menopausal hormone therapy (HT) for Alzheimer's disease (AD) risk reduction has been controversial. Herein, we conducted a systematic review and meta-analysis of HT effects on AD and dementia risk. Methods: Our systematic search yielded 6 RCT reports (21,065 treated and 20,997 placebo participants) and 45 observational reports (768,866 patient cases and 5.5 million controls). We used fixed and random effect meta-analysis to derive pooled relative risk (RR) and 95% confidence intervals (C.I.) from these studies. Results: Randomized controlled trials conducted in postmenopausal women ages 65 and older show an increased risk of dementia with HT use compared with placebo [RR = 1.38, 95% C.I. 1.16-1.64, p < 0.001], driven by estrogen-plus-progestogen therapy (EPT) [RR = 1.64, 95% C.I. 1.20-2.25, p = 0.002] and no significant effects of estrogen-only therapy (ET) [RR = 1.19, 95% C.I. 0.92-1.54, p = 0.18]. Conversely, observational studies indicate a reduced risk of AD [RR = 0.78, 95% C.I. 0.64-0.95, p = 0.013] and all-cause dementia [RR = .81, 95% C.I. 0.70-0.94, p = 0.007] with HT use, with protective effects noted with ET [RR = 0.86, 95% C.I. 0.77-0.95, p = 0.002] but not with EPT [RR = 0.910, 95% C.I. 0.775-1.069, p = 0.251]. Stratified analysis of pooled estimates indicates a 32% reduced risk of dementia with midlife ET [RR = 0.685, 95% C.I. 0.513-0.915, p = 0.010] and non-significant reductions with midlife EPT [RR = 0.775, 95% C.I. 0.474-1.266, p = 0.309]. Late-life HT use was associated with increased risk, albeit not significant [EPT: RR = 1.323, 95% C.I. 0.979-1.789, p = 0.069; ET: RR = 1.066, 95% C.I. 0.996-1.140, p = 0.066]. Discussion: These findings support renewed research interest in evaluating midlife estrogen therapy for AD risk reduction.

16.
JCO Clin Cancer Inform ; 7: e2300123, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37934933

RESUMEN

PURPOSE: Most individuals with a hereditary cancer syndrome are unaware of their genetic status to underutilization of hereditary cancer risk assessment. Chatbots, or programs that use artificial intelligence to simulate conversation, have emerged as a promising tool in health care and, more recently, as a potential tool for genetic cancer risk assessment and counseling. Here, we evaluated the existing literature on the use of chatbots in genetic cancer risk assessment and counseling. METHODS: A systematic review was conducted using key electronic databases to identify studies which use chatbots for genetic cancer risk assessment and counseling. Eligible studies were further subjected to meta-analysis. RESULTS: Seven studies met inclusion criteria, evaluating five distinct chatbots. Three studies evaluated a chatbot that could perform genetic cancer risk assessment, one study evaluated a chatbot that offered patient counseling, and three studies included both functions. The pooled estimated completion rate for the genetic cancer risk assessment was 36.7% (95% CI, 14.8 to 65.9). Two studies included comprehensive patient characteristics, and none involved a comparison group. Chatbots varied as to the involvement of a health care provider in the process of risk assessment and counseling. CONCLUSION: Chatbots have been used to streamline genetic cancer risk assessment and counseling and hold promise for reducing barriers to genetic services. Data regarding user and nonuser characteristics are lacking, as are data regarding comparative effectiveness to usual care. Future research may consider the impact of chatbots on equitable access to genetic services.


Asunto(s)
Inteligencia Artificial , Síndromes Neoplásicos Hereditarios , Humanos , Programas Informáticos , Consejo , Medición de Riesgo
17.
Blood Adv ; 7(21): 6579-6588, 2023 11 14.
Artículo en Inglés | MEDLINE | ID: mdl-37682791

RESUMEN

Although chemoimmunotherapy is the current standard of care for initial treatment of mantle cell lymphoma (MCL), newer data suggest that there may be a role for a chemotherapy-free approach. We report the 9-year follow-up results of a multicenter, phase 2 study of lenalidomide plus rituximab (LR) as the initial treatment of MCL. The LR doublet is used as induction and maintenance until progression, with optional discontinuation after 3 years. We previously reported an overall response rate of 92% in evaluable patients, with 64% achieving a complete response. At a median follow-up of 103 months, 17 of 36 evaluable patients (47%) remain in remission. The 9-year progression-free survival and overall survival were 51% and 66%, respectively. During maintenance, hematologic adverse events included asymptomatic grade 3 or 4 cytopenia (42% neutropenia, 5% thrombocytopenia, and 3% anemia) and mostly grade 1 to 2 infections managed in the outpatient setting (50% upper respiratory infections, 21% urinary tract infections, 16% sinusitis, 16% cellulitis, and 13% pneumonia, with 5% requiring hospitalization). More patients developed grade 1 and 2 neuropathy during maintenance therapy (29%) than during induction therapy (8%). Twenty-one percent of patients developed secondary malignancies, including 5% with invasive malignancies, whereas the remainder were noninvasive skin cancers treated with local skin-directed therapy. Two patients permanently discontinued therapy because of concerns of immunosuppression during the COVID-19 pandemic. With long-term follow-up, LR continues to demonstrate prolonged, durable responses with manageable safety as initial induction therapy. This trial was registered at www.clinicaltrials.gov as #NCT01472562.


Asunto(s)
Linfoma de Células del Manto , Adulto , Humanos , Rituximab/efectos adversos , Lenalidomida/uso terapéutico , Linfoma de Células del Manto/patología , Estudios de Seguimiento , Pandemias , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos
18.
Gynecol Oncol ; 177: 72-85, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37651980

RESUMEN

OBJECTIVE: Approximately 20% of ovarian cancers are due to an underlying germline pathogenic variant. While pathogenic variants in several genes have been well-established in the development of hereditary ovarian cancer (e.g. BRCA1/2, RAD51C, RAD51D, BRIP1, mismatch repair genes), the role of partner and localizer of BRCA2 (PALB2) remains uncertain. We sought to utilize meta-analysis to evaluate the association between PALB2 germline pathogenic variants and ovarian cancer. METHODS: We conducted a systematic review and meta-analysis. We searched key electronic databases to identify studies evaluating multigene panel testing in people with ovarian cancer. Eligible trials were subjected to meta-analysis. RESULTS: Fifty-five studies met inclusion criteria, including 48,194 people with ovarian cancer and information available on germline PALB2 pathogenic variant status. Among people with ovarian cancer and available PALB2 sequencing data, 0.4% [95% CI 0.3-0.4] harbored a germline pathogenic variant in the PALB2 gene. The pooled odds ratio (OR) for carrying a PALB2 pathogenic variant among the ovarian cancer population of 20,474 individuals who underwent germline testing was 2.48 [95% CI 1.57-3.90] relative to 123,883 controls. CONCLUSIONS: Our meta-analysis demonstrates that the pooled OR for harboring a PALB2 germline pathogenic variant among people with ovarian cancer compared to the general population is 2.48 [95% CI 1.57-3.90]. Prospective studies evaluating the role of germline PALB2 pathogenic variants in the development of ovarian cancer are warranted.

19.
MedEdPORTAL ; 19: 11323, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37484524

RESUMEN

Introduction: Telemedicine training for medical students is critical as that modality becomes integral to patient care. This formative standardized patient (SP) objective structured clinical exam (OSCE) lets students discuss miscarriage diagnosis and treatment virtually. Methods: The SP OSCE was a mandatory session during the obstetrics and gynecology clerkship. Students received immediate feedback and optional individual reviews with clerkship directors. Students completed a nonmandatory survey at the end to describe their experience. SPIKES protocol student responses (i.e., proportion of correct responses) from in-person and remote SP versions were compared. Results: Between July 2019 and March 2020, 79 students completed the in-person OSCE. Between July 2020 and June 2021, 149 students completed the remote SP encounter OSCE. Students who participated in the remote versus the in-person OSCE were more likely to admit their lack of knowledge when not equipped (p = .02), be seated during the encounter (p = .03), show listening body language (p = .13), assess the SP's perception (p = .19) and understanding (p = .20), and correct the SP's misunderstandings (p = .14). Of 84 students from eight rotations, including both in-person and remote formats, 99% believed learning objectives were clear, 91% felt preparation material was adequate, 95% thought the instructor summarized important points, 97% learned something in caring for gynecological patients, and 96% perceived the OSCE to be a worthwhile educational experience. Discussion: The remote OSCE was well received by students. Breaking bad news virtually met assessment goals. Telemedicine training should be incorporated into medical school curricula.


Asunto(s)
Ginecología , Estudiantes de Medicina , Humanos , Evaluación Educacional/métodos , Competencia Clínica , Curriculum
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