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1.
J Can Assoc Gastroenterol ; 7(2): 160-168, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38596800

RESUMEN

Background: Those with cirrhosis who require emergency colorectal surgery are at risk for poor outcomes. Although risk predictions models exists, these tools are not specific to colorectal surgery, nor were they developed in a contemporary setting. Thus, the objective of this study was to assess the outcomes in this population and determine whether cirrhosis etiology and/or the Model for End Stage Liver Disease (MELD-Na) is associated with mortality. Methods: This population-based study included those with cirrhosis undergoing emergent colorectal surgery between 2009 and 2017. All eligible individuals in Ontario were identified using administrative databases. The primary outcome was 90-day mortality. Results: Nine hundred and twenty-seven individuals (57%) (male) were included. The most common cirrhosis etiology was non-alcoholic fatty liver disease (NAFLD) (50%) and alcohol related (32%). Overall 90-day mortality was 32%. Multivariable survival analysis demonstrated those with alcohol-related disease were at increased risk of 90-day mortality (hazards ratio [HR] 1.53, 95% confidence interval [CI] 1.2-2.0 vs. NAFLD [ref]). Surgery for colorectal cancer was associated with better survival (HR 0.27, 95%CI 0.16-0.47). In the subgroup analysis of those with an available MELD-Na score (n = 348/927, 38%), there was a strong association between increasing MELD-Na and mortality (score 20+ HR 6.6, 95%CI 3.9-10.9; score 10-19 HR 1.8, 95%CI 1.1-3.0; score <10 [ref]). Conclusion: Individuals with cirrhosis who require emergent colorectal surgery have a high risk of postoperative complications, including mortality. Increasing MELD-Na score is associated with mortality and can be used to risk stratify individuals.

2.
Radiother Oncol ; 194: 110148, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38341094

RESUMEN

BACKGROUND: Recently, there has been significant interest in, and adoption of, total neoadjuvant therapy (TNT) for locally advanced rectal cancer (LARC). We designed the present study to assess the robustness of the randomized controlled trials (RCTs) evaluating contemporary TNTs for LARC using the fragility index (FI). MATERIALS AND METHODS: Relevant articles were identified through a review article by Johnson et al. in the Canadian Journal of Surgery. Dichotomous outcomes within these RCTs were eligible for inclusion if the reported effect size had a p-value < 0.05. The main outcome was FI for each included outcome. Walsh et al.'s method of calculating FI was utilized. Correlations between FI and research characteristics were assessed using the Spearman's rank correlation coefficients. Risk of bias was assessed using Cochrane recommended tools. RESULTS: Ten RCTs were identified with 25 outcomes having statistically significant differences between groups. Eleven outcomes were time-to-event outcomes, while the remainder were dichotomous outcomes. Approximately half (n = 13) were oncologic outcomes. The median FI was 2 (interquartile range [IQR] 1-16). The number of patients lost to follow-up exceeded the FI in 17 outcomes (68.0 %) and thus these results were considered "fragile". Lower FI was associated with high risk of bias (rho = -0.5594) and greater loss to follow-up (rho = -0.4394), while higher FI was associated with large study size (rho = 0.5120). CONCLUSIONS: The robustness of outcomes from trials assessing TNT for LARC was found to be questionable. Most outcomes were fragile, as determined by the FI. This survey is limited by the number of included studies.


Asunto(s)
Terapia Neoadyuvante , Neoplasias del Recto , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto , Neoplasias del Recto/terapia , Neoplasias del Recto/patología
3.
Curr Oncol ; 30(11): 9530-9541, 2023 Oct 30.
Artículo en Inglés | MEDLINE | ID: mdl-37999110

RESUMEN

Those with cirrhosis who develop colorectal cancer (CRC) are an understudied group who may tolerate treatments poorly and are at risk of worse outcomes. This is a retrospective cohort study of 842 individuals from Ontario, Canada, with a pre-existing diagnosis of cirrhosis who underwent surgery for CRC between 2009 and 2017. Practice patterns, overall survival, and short-term morbidity and mortality were assessed. The most common cirrhosis etiology was non-alcoholic fatty liver disease (NAFLD) (52%) and alcohol-associated liver disease (29%). The model for end-stage liver disease score (MELD-Na) was available in 42% (median score of 9, IQR7-11). Preoperative radiation was used in 62% of Stage II/III rectal cancer patients, while postoperative chemotherapy was used in 42% of Stage III colon cancer patients and 38% of Stage II/III rectal cancer patients. Ninety-day mortality following surgery was 12%. Five-year overall survival was 53% (by Stages I-IV, 66%, 55%, 50%, and 11%, respectively). Those with alcohol-associated cirrhosis (HR 1.8, 95% CI 1.5-2.2) had lower survival than those with NAFLD. Those with a MELD-Na of 10+ did worse than those with a lower MELD-Na score (HR 1.9, 95% CI 1.4-2.6). This study reports poor survival in those with cirrhosis who undergo treatment for CRC. Caution should be taken when considering aggressive treatment.


Asunto(s)
Neoplasias del Colon , Enfermedad Hepática en Estado Terminal , Enfermedad del Hígado Graso no Alcohólico , Neoplasias del Recto , Humanos , Enfermedad Hepática en Estado Terminal/complicaciones , Estudios Retrospectivos , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Índice de Severidad de la Enfermedad , Cirrosis Hepática/complicaciones , Cirrosis Hepática/cirugía , Ontario/epidemiología
4.
PLoS One ; 18(3): e0281340, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36917566

RESUMEN

INTRODUCTION: The wearable cardioverter defibrillator (WCD) is used to protect patients at risk for sudden cardiac arrest. We examined defibrillation efficacy and safety of a biphasic truncated exponential waveform designed for use in a contemporary WCD in three animal studies and a human study. METHODS: Animal (swine) studies: #1: Efficacy comparison of a 170J BTE waveform (SHOCK A) to a 150J BTE waveform (SHOCK B) that approximates another commercially available waveform. Primary endpoint first shock success rate. #2: Efficacy comparison of the two waveforms at attenuated charge voltages in swine at three prespecified impedances. Primary endpoint first shock success rate. #3: Safety comparison of SHOCK A and SHOCK B in swine. Primary endpoint cardiac biomarker level changes baseline to 6 and 24 hours post-shock. Human Study: Efficacy comparison of SHOCK A to prespecified goal and safety evaluation. Primary endpoint cumulative first and second shock success rate. Safety endpoint adverse events. RESULTS: Animal Studies #1: 120 VF episodes in six swine. First shock success rates for SHOCK A and SHOCK B were 100%; SHOCK A non-inferior to SHOCK B (entire 95% CI of rate difference above -10% margin, p < .001). #2: 2,160 VF episodes in thirty-six swine. Attenuated SHOCK A was non-inferior to attenuated SHOCK B at each impedance (entire 95% CI of rate difference above -10% margin, p < .001). #3: Ten swine, five shocked five times each with SHOCK A, five shocked five times each with SHOCK B. No significant difference in troponin I (p = 0.658) or creatine phosphokinase (p = 0.855) changes from baseline between SHOCK A and SHOCK B. Human Study: Thirteen patients, 100% VF conversion rate. Mild skin irritation from adhesive defibrillation pads in three patients. CONCLUSIONS: The BTE waveform effectively and safely terminated induced VF in swine and a small sample in humans. TRIAL REGISTRATION: Human study clinical trial registration: URL: https://clinicaltrials.gov; Unique identifier: NCT04132466.


Asunto(s)
Fibrilación Ventricular , Dispositivos Electrónicos Vestibles , Humanos , Porcinos , Animales , Fibrilación Ventricular/terapia , Resultado del Tratamiento , Cardioversión Eléctrica/efectos adversos , Cardioversión Eléctrica/métodos , Desfibriladores
5.
Eur J Cancer Care (Engl) ; 31(3): e13581, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35343002

RESUMEN

OBJECTIVE: To evaluate and describe attitudes, quality of life (Qol), needs and preferences of patients with head and neck cancer after 3 years of follow-up care. METHODS: This is an exploratory prospective study of recurrence-free patients. Survey results were compared between 1-, 2- and 3-year post-treatment and by disease characteristics. RESULTS: A total of 116 patients were included with 46% oropharyngeal cancer, 66% early stage disease and 41% having had surgery. After 3 years, most patients reported good to excellent health (88%), however expressed uncertainty regarding recurrence (66%), multiple needs (information on prognosis 91%, long-term sequalae 72%) and wanted to continue with follow-up (96%). Few changes were observed over time, with exceptions. Patients with more advanced disease, oral cancer or who had surgery experienced declining Qol (p < 0.050). Women experienced improvements in Qol domains (pain p = 0.028, speech p = 0.009) over time. Attitudes towards communication with oncologists demonstrated improved patient comfort (p = 0.044) over the 3 years; however, patients' beliefs about their prognosis did not (71% vs. 73% vs. 77% did not believe they were cured, p = 0.581). CONCLUSION: Although patients' needs, preferences and attitudes towards follow-up did not change drastically, important needs persist. This work supports identifying individual patient needs and the challenges in addressing prognostic expectations.


Asunto(s)
Neoplasias de Cabeza y Cuello , Calidad de Vida , Cuidados Posteriores , Femenino , Estudios de Seguimiento , Neoplasias de Cabeza y Cuello/terapia , Humanos , Prioridad del Paciente , Estudios Prospectivos , Autoinforme , Encuestas y Cuestionarios
6.
J Pediatr Surg ; 57(5): 855-860, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35115169

RESUMEN

BACKGROUND: We compared patient- and family-reported overall and stool-related quality of life (QoL) before and after an antegrade continence enema (ACE) procedure (cecostomy tube insertion) for refractory chronic constipation or fecal incontinence (CCFI). We hypothesized that patients with functional diagnoses experience similar improvements in QoL compared to those with organic diagnoses. METHODS: This is a cross-sectional study of patients undergoing cecostomy tube insertion for CCFI at a tertiary pediatric hospital from 2012 to 2019. Patients and/or primary caregivers completed validated stooling and overall QoL surveys based on three time points: before surgery, three months after surgery, and at the time of survey / date of last follow-up. Repeated measures analyses compared scores over time between subjects and within the diagnostic groups. RESULTS: The response rate was 65% (22/34 patients, 12 organic and 10 functional diagnoses). Mean age was 8.3 years and 32% of the participants were female. Organic diagnoses were: spina bifida (6), anorectal malformation (5), and Hirschsprung Disease (1). There was substantial improvement in stool-related and overall QoL at three months post-ACE procedure (both p<0.001) for all patients; both scores continued to improve significantly until the date of last follow-up (median 4.1 years, IQR 2.3-5.6, p<0.001). There was no statistically significant difference in scores between patients with organic and functional diagnoses. CONCLUSIONS: Caregivers perceive a significant, sustainable improvement in stooling habits and QoL following ACE therapy. The improvement is comparable between patients with a functional diagnosis and those with an underlying organic reason for their CCFI.


Asunto(s)
Encopresis , Incontinencia Fecal , Niño , Estreñimiento/cirugía , Estreñimiento/terapia , Estudios Transversales , Encopresis/terapia , Enema/métodos , Incontinencia Fecal/cirugía , Incontinencia Fecal/terapia , Femenino , Humanos , Masculino , Calidad de Vida , Estudios Retrospectivos , Resultado del Tratamiento
7.
IDCases ; 26: e01351, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34877259

RESUMEN

Mesh infection after abdominal wall reconstruction is a rare and usually devastating complication. Herein, we describe a unique case of a delayed and non-lethal Candida albicans mesh infection after abdominal wall reconstruction with placement of a biologic graft impregnated with antibiotics. Mesh explantation was not required, and the wound healed by secondary intention. This work suggests that locally delivered antibiotics may change the culprit microbes of skin infections to more unusual species such as Candida spp. Future research is required to study the effect of including antifungal agents in the locally delivered antimicrobials for abdominal wall reconstructions with biological meshes.

8.
Cureus ; 13(10): e18949, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34853733

RESUMEN

This technical report describes a nitrous oxide sedation training curriculum for pediatric emergency medicine providers. This curriculum was used during the novel coronavirus disease 2019 (COVID-19) pandemic where in-person classroom training was significantly limited. We demonstrate a model for concept and equipment learning with video-guided self-practice in place of in-person training with a facilitator. A similar model can be utilized for other equipment or concept training.

9.
J Thorac Dis ; 13(3): 1603-1611, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33841952

RESUMEN

BACKGROUND: Primary spontaneous pneumothorax is managed initially with observation and chest tube placement, followed by surgical intervention in select cases. With little currently published evidence, the role of surgical pleurodesis or pleurectomy to reduce primary spontaneous pneumothorax recurrence is unclear. This study compares the recurrence rates of primary spontaneous pneumothorax following bullectomy alone versus bullectomy with pleurodesis or pleurectomy. METHODS: A retrospective review was performed at a quaternary hospital for all patients undergoing surgery for primary spontaneous pneumothorax between June 2006 and December 2018. Patient demographics, disease severity, operative technique, and time between initial surgery and recurrence were recorded. Standard statistical techniques were used for univariable and multivariable analyses. RESULTS: Of 222 total included patients, 28 required a second surgery: 4 (1.8%) for prolonged air leak and 24 (10.8%) for recurrent pneumothorax. The median time from first to second surgery was 363 days and 35.7% of recurrences did not present until after two years. Age, sex, smoking, year of initial surgery, disease severity, and surgical technique did not significantly affect recurrence rate on univariable analysis. On multivariable analysis, the odds ratios of recurrence for bullectomy with mechanical pleurodesis or pleurectomy were respectively 0.82 and 0.15 (P=0.218), compared to bullectomy alone. Combined bullectomy, pleurectomy, and pleurodesis was most effective (0/18, 0%). CONCLUSIONS: Bullectomy with pleurectomy and pleurodesis demonstrated a 0% recurrence rate for the treatment of primary spontaneous pneumothorax in this study. Statistical significance was not achieved in univariable or multivariable analyses comparing recurrence rates for the surgical approaches. A multi-center randomized controlled trial with longer follow-up than previously performed is needed to confirm these preliminary findings and optimize surgical management of primary spontaneous pneumothorax.

10.
HPB (Oxford) ; 23(3): 404-412, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-32792307

RESUMEN

BACKGROUND: Prior work has shown associations between blood transfusion (BT) and inferior outcomes during resection for colorectal cancer liver metastases (CRLM). Herein, we describe short and long-term outcomes relating to perioperative BT in routine clinical practice. METHODS: All CRLM resections in Ontario, Canada from 2002 to 2009 were identified using the Ontario Cancer Registry. Log-binomial regression and Cox regression were used to explore factors associated with receipt of BT and the association of BT with 5-year cancer specific (CSS) and overall survival (OS), respectively. RESULTS: The study included 1310 patients; 31% (403/1310) had perioperative BT. Transfused patients had longer median length of stay (9 vs. 7 days, p < 0.001), higher 90-day mortality (9% vs. 1%, p < 0.001), greater 90-day readmission (28% vs. 16%, p < 0.001), and inferior 5-year CSS (41% vs. 48%, p = <0.001) and OS (38% vs. 47%, p < 0.001). Transfusion was independently associated with inferior CSS (HR = 1.35, 95% CI: 1.11-1.63) and OS (HR = 1.30, 95% CI: 1.10-1.53), however, excluding 90-day postoperative deaths showed these associations were no longer significant. CONCLUSION: Perioperative BT is common in patients undergoing resection of CRLM. While transfusion is associated with greater morbidity, mortality, and inferior survival, after excluding early postoperative deaths, BT does not appear to be independently associated with CSS or OS.


Asunto(s)
Neoplasias Colorrectales , Neoplasias Hepáticas , Transfusión Sanguínea , Hepatectomía/efectos adversos , Humanos , Neoplasias Hepáticas/cirugía , Ontario , Estudios Retrospectivos , Tasa de Supervivencia
11.
J Foot Ankle Surg ; 59(2): 403-408, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32131011

RESUMEN

Kaposi sarcoma inflammatory cytokine syndrome is a rare and fatal malignancy that is challenging to treat. The syndrome appears in individuals who are both human immunodeficiency virus and human herpesvirus 8 positive. The diagnosis of disease is challenging because its presentation mimics sepsis and it has a high mortality rate. A bone marrow biopsy is necessary for definitive diagnosis. This case report discusses a 40-year-old human immunodeficiency virus infection-positive African American male who presented to the emergency department with a chief complaint of left hallux pain in January 2018 after a trip to a nail salon in December 2017. Radiographic and magnetic resonance images suggested osteomyelitis of the distal phalanx, and Gram stain of bone showed gram-negative rods. The patient was started on antibiotic therapy for presumed osteomyelitis. As the patient's status deteriorated, a partial hallux amputation was then performed. Intraoperative specimens were negative for bacterial involvement, but pathology was positive for Kaposi sarcoma. During a 7-month progression, the patient's hematologic and overall status continued to decline. Despite diagnostic and treatment guidelines being followed, the patient died from this illness in July 2018. This case is interesting because of the atypical presentation of Kaposi sarcoma and highlights the rapid progression of the disease.


Asunto(s)
Neoplasias Óseas/diagnóstico , Citocinas/metabolismo , Osteomielitis/etiología , Sarcoma de Kaposi/diagnóstico , Adulto , Biomarcadores de Tumor/metabolismo , Biopsia , Neoplasias Óseas/complicaciones , Neoplasias Óseas/metabolismo , Humanos , Imagen por Resonancia Magnética , Masculino , Osteomielitis/diagnóstico , Radiografía , Sarcoma de Kaposi/complicaciones , Sarcoma de Kaposi/metabolismo , Síndrome
12.
Cancer Med ; 8(14): 6258-6271, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31472011

RESUMEN

BACKGROUND: Identifying optimal chemotherapy (CT) utilization rates can drive improvements in quality of care. We report a benchmarking approach to estimate the optimal rate of perioperative CT for muscle-invasive bladder cancer (MIBC). METHODS: The Ontario Cancer Registry and linked treated records were used to identify neoadjuvant and adjuvant CT rates among patients with MIBC during 2004-2013. Monte Carlo simulation was used to estimate the proportion of observed rate variation that could be due to chance alone. The criterion-based benchmarking approach was used to explore whether social and health-system factors were associated with CT rates. We also used the "pared-mean" approach to identify a benchmark population of hospitals with the highest treatment rates. Hospital CT rates were adjusted for case mix and simulated using a multi-level multivariable model and a parametric bootstrapping approach. RESULTS: The study population included 2581 patients; perioperative CT was delivered to 31% (798/2581). Multivariate analysis showed that treatment was strongly associated with patient socioeconomic status and hospital teaching status. The benchmark rate was 36%. Unadjusted CT rates were significantly different across hospitals (range 0%-52%, P < .001). The unadjusted benchmark perioperative CT rate was 45% (95% CI 40%-50%); utilization rate in nonbenchmark hospitals was 28% (95% CI 26%-30%). When using simulated CT rates adjusted for case mix, the benchmark CT rate was 41% (95% CI 35%-47%) and the nonbenchmark hospital CT rate was 30% (95% CI 28%-32%). The simulation analysis suggested that the observed component of variation (38%) was outside the 95% CI (22%-28%) of what could be expected due to chance alone. CONCLUSIONS: There is significant systematic variation in perioperative CT rates for MIBC across hospitals in routine practice. The benchmark perioperative CT rate for MIBC is 36%-41%.


Asunto(s)
Atención Perioperativa , Neoplasias de la Vejiga Urinaria/diagnóstico , Neoplasias de la Vejiga Urinaria/tratamiento farmacológico , Adulto , Anciano , Anciano de 80 o más Años , Animales , Quimioterapia Adyuvante , Comorbilidad , Modelos Animales de Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Atención Perioperativa/métodos , Resultado del Tratamiento , Neoplasias de la Vejiga Urinaria/cirugía , Adulto Joven
13.
Cancer Med ; 8(12): 5590-5599, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31407518

RESUMEN

BACKGROUND: Identifying optimal chemotherapy utilization rates can drive improvements in quality of care. We report a benchmarking approach to estimate the optimal rate of adjuvant chemotherapy (ACT) for stage III colon cancer. METHODS: The Ontario Cancer Registry and linked treated records were used to identify ACT utilization. Monte Carlo simulation was used to estimate the proportion of ACT rate variation that could be due to chance alone. The criterion-based benchmarking approach was used to explore whether socioeconomic or system-level factors were associated with ACT. We also used the "pared-mean" approach to identify a benchmark population of hospitals with the highest ACT rates. RESULTS: The study population included 2801 patients; ACT was delivered to 66% (1861/2801). Monte Carlo simulation suggested that the observed component of variation (15.6%) in ACT rates was within the 95% CI (11.5%-17.3%) of what could be expected due to chance alone; the nonrandom component of ACT rate variation across hospitals was only 1.5%. There was no difference in hospital ACT rate by teaching status (P = .107), cancer center status (P = .362), or having medical oncology on site (P = .840). Unadjusted ACT rates varied across hospitals (range 44%-91%, P = .017). The unadjusted benchmark ACT rate was 81% (95%CI 76%-86%); utilization rate in non-benchmark hospitals was 65% (95%CI 63%-66%). However, after adjusting for case mix, the difference in ACT utilization between benchmark and non-benchmark populations was significantly smaller. CONCLUSIONS: We did not find any system-level factors associated with the utilization of ACT. Our results suggest that the observed variation in hospital ACT rate is not significantly different from variation due to chance alone. Using the "pared-mean" approach may significantly overestimate optimal treatment rates if case mix is not considered.


Asunto(s)
Quimioterapia Adyuvante/métodos , Neoplasias del Colon/tratamiento farmacológico , Neoplasias del Colon/patología , Utilización de Medicamentos/estadística & datos numéricos , Adulto , Anciano , Anciano de 80 o más Años , Benchmarking , Femenino , Humanos , Masculino , Persona de Mediana Edad , Método de Montecarlo , Estadificación de Neoplasias , Ontario/epidemiología , Sistema de Registros , Adulto Joven
14.
Case Rep Gastrointest Med ; 2019: 1434838, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31341685

RESUMEN

Urachal mucinous tumors are rare neoplasms with behaviour that can range from relatively benign to malignancy that can spread distantly or throughout the peritoneum as pseudomyxoma peritonei or peritoneal carcinomatosis. Here we describe a unique case of urachal mucinous cystic tumor of low malignant potential confined to an intact cyst at the dome of the urinary bladder, without rupture or peritoneal spread. The urachal mucinous tumor was an incidental finding on a staging CT scan performed for sigmoid colon adenocarcinoma. We believe that this case illustrates a potential diagnostic pitfall which could have prognostic and therapeutic implications. Due to the intestinal phenotype of these neoplasms, a urachal tumor of low malignant potential could be mistaken for metastatic spread from a colonic adenocarcinoma in the rare situation such as this case, where the two neoplasms occur concurrently.

15.
Lancet ; 393(10173): 758-767, 2019 02 23.
Artículo en Inglés | MEDLINE | ID: mdl-30712878

RESUMEN

BACKGROUND: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although whole-exome sequencing (WES) has been applied to case series of a few selected prenatal cases, its value in routine clinical settings has not been prospectively assessed in a large unselected cohort of fetuses with structural anomalies. We therefore aimed to determine the incremental diagnostic yield (ie, the added value) of WES following uninformative results of standard investigations with karyotype testing and chromosomal microarray in an unselected cohort of sequential pregnancies showing fetal structural anomalies. METHODS: In this prospective cohort study, the parents of fetuses who were found to have a structural anomaly in a prenatal ultrasound were screened for possible participation in the study. These participants were predominantly identified in or were referred to the Columbia University Carmen and John Thain Center for Prenatal Pediatrics (New York, NY, USA). Fetuses with confirmed aneuploidy or a causal pathogenic copy number variant were excluded from WES analyses. By use of WES of the fetuses and parents (parent-fetus trios), we identified genetic variants that indicated an underlying cause (diagnostic genetic variants) and genetic variants that met the criteria of bioinformatic signatures that had previously been described to be significantly enriched among diagnostic genetic variants. FINDINGS: Between April 24, 2015, and April 19, 2017, 517 sequentially identified pregnant women found to have fetuses with a structural anomaly were screened for their eligibility for inclusion in our study. 71 (14%) couples declined testing, 87 (17%) trios were missing at least one DNA sample (from either parent or the fetus), 69 (13%) trios had a clinically relevant abnormal karyotype or chromosomal microarray finding, 51 (10%) couples did not consent to WES or withdrew consent, and five (1%) samples were not of good enough quality for analysis. DNA samples from 234 (45%) eligible trios were therefore used for analysis of the primary outcome. By use of trio sequence data, we identified diagnostic genetic variants in 24 (10%) families. Mutations with bioinformatic signatures that were indicative of pathogenicity but with insufficient evidence to be considered diagnostic were also evaluated; 46 (20%) of the 234 fetuses assessed were found to have such signatures. INTERPRETATION: Our analysis of WES data in a prospective cohort of unselected fetuses with structural anomalies shows the value added by WES following the use of routine genetic tests. Our findings suggest that, in cases of fetal anomalies in which assessment with karyotype testing and chromosomal microarray fail to determine the underlying cause of a structural anomaly, WES can add clinically relevant information that could assist current management of a pregnancy. The unique challenges of WES-based prenatal diagnostics require analysis by a multidisciplinary team of perinatal practitioners and laboratory specialists. FUNDING: Institute for Genomic Medicine (Columbia University Irving Medical Center).


Asunto(s)
Cariotipo Anormal/embriología , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Aneuploidia , Variaciones en el Número de Copia de ADN/genética , Secuenciación del Exoma/estadística & datos numéricos , Desarrollo Fetal/genética , Feto/anomalías , Anomalías Múltiples/epidemiología , Amniocentesis , Muestra de la Vellosidad Coriónica , Femenino , Tamización de Portadores Genéticos , Humanos , Masculino , Embarazo , Estudios Prospectivos , Ultrasonografía Prenatal , Secuenciación del Exoma/métodos
16.
Eur J Cancer Care (Engl) ; 28(2): e12993, 2019 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-30656777

RESUMEN

OBJECTIVE: The experience of a cancer diagnosis and receiving treatment can have profound impacts on health and subsequently patients may require significant support. Often, these needs are not identified or addressed. Given that less is known about the follow-up requirements for head and neck cancer patients, this study aimed to describe their follow-up needs and preferences. METHODS: In Ontario, Canada from 2012-2014, 175 patients completed a questionnaire at an appointment one year after treatment. To identify associations between characteristics and follow-up needs, bivariate analyses and ordinal logistic regression models were employed. RESULTS: A diversity of follow-up requirements was found. The most commonly reported follow-up needs were having imaging tests performed (66%), receiving information on treatment side effects (84%) and prognosis details (95%). Many patients experienced an improvement in their health (79%) but notably, not all. Characteristics such as psychosocial and well-being measures (functional status, anxiety, fear of recurrence, quality of life), attitudes towards follow-up (reassurance, communication), demographics (age, sex, marital status), and stage of disease predicted needs and preferences for follow-up care (p < 0.05). CONCLUSION: While awaiting top-level evidence, this work demonstrates the variation in needs and supports the identification of patients with higher follow-up requirements by screening for well-being and enquiring about expectations in follow-up care.


Asunto(s)
Cuidados Posteriores/métodos , Neoplasias de Cabeza y Cuello/terapia , Prioridad del Paciente , Adulto , Cuidados Posteriores/psicología , Anciano , Anciano de 80 o más Años , Atención a la Salud , Femenino , Neoplasias de Cabeza y Cuello/psicología , Estado de Salud , Humanos , Masculino , Salud Mental , Persona de Mediana Edad , Motivación , Evaluación de Necesidades , Educación del Paciente como Asunto , Relaciones Médico-Paciente , Estudios Prospectivos , Calidad de Vida , Factores Socioeconómicos
17.
Contemp Oncol (Pozn) ; 22(3): 191-201, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30455592

RESUMEN

INTRODUCTION: One way to examine the extent to which the stress associated with a breast cancer experience (BC) impacts stress-related physiological mechanisms is to study the secretion patterns of associated biomarkers. Unlike cortisol and α-amylase (sAA), biomarkers of immune functioning such as secretory immunoglobulin A (SIgA) have rarely been examined in BC survivors. AIM OF THE STUDY: This study had two principal aims: the first was to evaluate the basal secretion profiles of SIgA as well as its response to an acute stressor as a marker of immune health in BC survivors and women with no history of BC, and the second was to determine how SIgA stress-related patterns compare to published cortisol and sAA patterns in the same women. RESULTS: Overall, the findings indicate that BC survivors exhibit a blunted cortisol reaction to an acute stressor, a generally elevated diurnal sAA concentration pattern, and normal SIgA profiles, compared to women with no history of cancer. This study serves as a foundation for future research to elucidate the relationships between BC experience variables, stress biomarkers, and health outcomes in BC survivors.

18.
Bladder Cancer ; 4(4): 419-428, 2018 Oct 29.
Artículo en Inglés | MEDLINE | ID: mdl-30417053

RESUMEN

BACKGROUND: Chemotherapy and major pelvic surgery are established risk factors for venous thromboembolism (VTE). We evaluate the incidence rate, timing, and factors associated with VTE in patients with bladder cancer who underwent radical cystectomy and peri-operative chemotherapy in routine clinical practice. METHODS: Electronic records of treatment were linked to the population-based Ontario Cancer Registry to identify all patients who underwent cystectomy for bladder cancer in Ontario 1994-2013. VTE events within 6 months of before or after cystectomy were identified using diagnostic codes recorded on hospital admissions and emergency department visits. Multivariable logistic regression was used to analyze factors associated with VTE prior to surgery, within 90-days of cystectomy, and 120-days after the start of adjuvant chemotherapy. RESULTS: 4205 patients had cystectomy and 26% (1084/4205) received peri-operative chemotherapy. The overall incidence rate of VTE within 6 months of cystectomy was 9% (363/4205). VTE rate was highest among those patients treated with neoadjuvant chemotherapy (NACT) compared to patients treated with no chemotherapy or only adjuvant chemotherapy (ACT) (12% vs 8% vs 9%, p = 0.002). Among all VTE events, 10%, 28%, and 61% occurred before, during, and after hospitalization for cystectomy. Pre-operative VTE rate was highest among cases treated with NACT (4%) compared to patients with no chemotherapy (<1%) or ACT (<1%) (p < 0.001). VTE within 90 days of surgery was associated with greater length of hospital admission (p < 0.001) across all treatment groups. CONCLUSIONS: A substantial proportion of patients treated with peri-operative chemotherapy will develop VTE. The majority of these occur after discharge from hospital following cystectomy. Extended thromboprophylaxis treatment in high-risk patients including those who receive peri-operative chemotherapy should be considered.

19.
J Glob Oncol ; 4: 1-12, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-30084750

RESUMEN

Purpose Limited data describe the delivery of pediatric cancer care in Mexico. We report a nationwide survey of pediatric cancer units. Methods An electronic survey was distributed to 74 pediatric cancer units in Mexico to describe case volumes; organization of care; and availability of medical/surgical specialists, supportive care, complex therapies, and diagnostic services. Centers were classified as low (< 30 new patients/year), medium (30 to 59/year) and high (≥ 60/year). Results Sixty-two centers completed the survey (response rate, 84%). The median annual new case volume per center was 50 (interquartile range [IQR], 23 to 81). Thirty-four percent (n = 21), 26% (n = 16), and 40% (n = 25) of units were low-, medium-, and high-volume centers, respectively. Treatment units reported a median of two pediatric oncologists (IQR, 2) and one pediatric hematologist (IQR, 1 to 2). Availability of medical and surgical subspecialists varied by center size, with substantially more specialist support at higher-volume centers ( P < .01). Multidisciplinary tumor boards are available at 29% (six of 21), 56% (nine of 16), and 76% (19 of 25) of low- to high-volume centers, respectively ( P = .005). Radiation and palliative care services are available at 42% (n = 26) and 63% (n = 36) of all centers, which did not vary by center volume. Educational support for hospitalized children and school reintegration programs are available at 56% (n = 36) and 58% (n = 36) of centers, respectively. One third (38% [n = 23]) of centers reported that at least one half of patients were lost to follow-up during the transition from pediatric to adult programs. Conclusion A large variation exists in annual case volumes across Mexican pediatric cancer centers. Additional efforts to increase access to multidisciplinary, supportive, and palliative care across all pediatric cancer units in Mexico are required.


Asunto(s)
Neoplasias/terapia , Niño , Femenino , Humanos , Masculino , México , Encuestas y Cuestionarios
20.
Clin Colorectal Cancer ; 17(4): e651-e661, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30061036

RESUMEN

INTRODUCTION: The incidence of colorectal cancer in young patients has been increasing. We evaluated whether the disease characteristics, management, and outcomes of patients with colon cancer differ among patients aged ≤ 40 years compared with those of older patients. MATERIALS AND METHODS: Using the Ontario Cancer Registry, all cases of colon cancer (stage I, II, III) treated with surgery in Ontario from 2002 to 2008 were identified. The electronic medical records of treatment were used to identify the use of surgery and adjuvant chemotherapy (ACT). The pathology reports were obtained for a random 25% sample of all cases. A Cox model was used to identify the factors associated with overall (OS) and cancer-specific survival (CSS). RESULTS: The study population included 6775 patients. The age distribution was 2%, 5%, 14%, and 79% for patients aged ≤ 40, 41 to 50, 51 to 60, and > 60 years, respectively. Compared with patients aged > 60 years, younger patients (age ≤ 40 years) were more likely to have lymphovascular invasion (35% vs. 27%; P = .005), T3/T4 tumors (88% vs. 79%; P = .005) and lymph node-positive disease (58% vs. 41%; P < .001). The stage distribution varied by age: stage I, 8% versus 19%; stage II, 34% versus 40%; and stage III, 58% versus 41% for those aged ≤ 40 years versus those aged > 60 years, respectively (P < .001). ACT was delivered more often to patients aged ≤ 40 years than to those aged > 60 years for stage II (50% vs. 13%; P < .001) and stage III (≥ 92% vs. 57%; P < .001) disease. The adjusted OS (hazard ratio [HR], 0.32; 95% confidence interval [CI], 0.21-0.49) and CSS (HR, 0.41; 95% CI, 0.26-0.64) were superior for patients aged ≤ 40 years compared with the OS and CSS for those aged > 60 years. CONCLUSION: Young patients with colon cancer have more aggressive and advanced disease but improved outcomes compared with older patients.


Asunto(s)
Colectomía/mortalidad , Neoplasias del Colon/patología , Neoplasias del Colon/cirugía , Adulto , Factores de Edad , Neoplasias del Colon/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Ontario/epidemiología , Estudios Retrospectivos , Tasa de Supervivencia , Resultado del Tratamiento
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