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1.
Commun Med (Lond) ; 4(1): 69, 2024 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-38589545

RESUMEN

BACKGROUND: Patients with cancer often have unmet psychosocial needs. Early detection of who requires referral to a counsellor or psychiatrist may improve their care. This work used natural language processing to predict which patients will see a counsellor or psychiatrist from a patient's initial oncology consultation document. We believe this is the first use of artificial intelligence to predict psychiatric outcomes from non-psychiatric medical documents. METHODS: This retrospective prognostic study used data from 47,625 patients at BC Cancer. We analyzed initial oncology consultation documents using traditional and neural language models to predict whether patients would see a counsellor or psychiatrist in the 12 months following their initial oncology consultation. RESULTS: Here, we show our best models achieved a balanced accuracy (receiver-operating-characteristic area-under-curve) of 73.1% (0.824) for predicting seeing a psychiatrist, and 71.0% (0.784) for seeing a counsellor. Different words and phrases are important for predicting each outcome. CONCLUSION: These results suggest natural language processing can be used to predict psychosocial needs of patients with cancer from their initial oncology consultation document. Future research could extend this work to predict the psychosocial needs of medical patients in other settings.


Patients with cancer often need support for their mental health. Early detection of who requires referral to a counsellor or psychiatrist may improve their care. This study trained a type of artificial intelligence (AI) called natural language processing to read the consultation report an oncologist writes after they first see a patient to predict which patients will see a counsellor or psychiatrist. The AI predicted this with performance similar to other uses of AI in mental health, and used different words and phrases to predict who would see a psychiatrist compared to seeing a counsellor. We believe this is the first use of AI to predict mental health outcomes from medical documents written by clinicians outside of mental health. This study suggests this type of AI can predict the mental health needs of patients with cancer from this widely-available document.

2.
Artículo en Inglés | MEDLINE | ID: mdl-38154923

RESUMEN

OBJECTIVES: Older adults have unique needs and may benefit from additional supportive services through their cancer journey. It can be challenging for older adults to navigate the siloed systems within cancer centres and the community. We aimed to document the use of supportive care services in older adults with a new cancer diagnosis in a public healthcare system. METHODS: We used population-based databases in British Columbia to document referrals to supportive care services. Patients aged 70 years and above with a new diagnosis of solid tumour in the year 2015 were included. Supportive care services captured were social work, psychiatry, palliative care, nutrition and home care. Chart review was used to assess visits to the emergency room and extra calls to the cancer centre help line. RESULTS: 2014 patients were included with a median age of 77, 30% had advanced cancer. 459 (22.8%) of patients accessed one or more services through the cancer centre. The most common service used was patient and family counselling (13%). 309 (15.3%) of patients used community home care services. Patients aged 80 years and above were less likely to access supportive care resources (OR 0.57) compared with those 70-79 years. Patients with advanced cancer, those treated at smaller cancer centres, and patients with colorectal, gynaecological and lung cancer were more likely to have received a supportive care referral. CONCLUSIONS: Older adults, particularly those above 80 years, have low rates of supportive care service utilisation. Barriers to access must be explored, in addition to novel ways of holistic care delivery.

3.
Cureus ; 15(5): e39650, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37388606

RESUMEN

Introduction Street soccer makes the sport accessible to people affected by homelessness or precarious housing. There is overwhelming evidence that exercise improves physical and mental health. In addition, sport facilitates positive peer pressure that leads to beneficial life changes. Method To examine participants' accounts of the effects of street soccer in a sample of socially disadvantaged players from Western Canada, we collected 73 cross-sectional self-reports of life changes via a questionnaire. The questionnaire included questions on social, mental, and physical health, including substance use. This allowed the calculation of a modified composite harm score. Results Participants reported improved physical (46% of participants) and mental (43% of participants) health, reduced cigarette (50% of smokers), alcohol (45% of users), cannabis (42% of users), and other non-prescribed drug use, increased number of friends (88% of participants), improved housing (60% of participants), increased income (19% of participants), increased community medical supports (40% of participants), and decreased conflicts with police (47% of those with prior recent conflict). Perceived reductions in substance use were supported by significant changes in composite harm score. Conclusion Street soccer appears to promote improved physical, mental, and social health among people affected by homelessness or precarious housing, with reduction in substance use likely to be a key factor. This work builds upon past qualitative research showing the benefits of street soccer and supports future research which may help elucidate the mechanisms by which street soccer has beneficial effects.

4.
Acad Forensic Pathol ; 13(1): 3-8, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37091199

RESUMEN

Introduction: In order to reduce transmission of COVID-19, in March 2020 the UK national and devolved governments imposed restrictions including spatial distancing, stay-at-home orders, and travel restrictions. The aim of this study is to compare the characteristics of cases referred to the Coronial system for autopsy in the months before and during the lockdown period. Methods: In all, 580 autopsy cases, performed in the London area between January and June 2020 were included in the study. Results: In the postlockdown period, there was an increase in the proportion of black individuals referred for autopsy, which just attained statistical significance (p = 0.047). The proportion of decomposed bodies submitted for examination was significantly increased (p = 0.011). The study did not show a significant increase in the proportion of out-of-hospital (community) deaths, traumatic deaths, or deaths due to alcohol or drug abuse or overdose. Conclusion: The study shows no evidence that COVID-19 preventative measures led to a change in the causes of death referred to the Coroner, except, of course, for COVID-related deaths. The proportion of black people among subjects for autopsy increased, probably because of a relatively higher incidence of COVID deaths among this group. Decomposed subjects were more common, probably due to social isolation.

5.
JAMA Netw Open ; 6(2): e230813, 2023 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-36848085

RESUMEN

Importance: Predicting short- and long-term survival of patients with cancer may improve their care. Prior predictive models either use data with limited availability or predict the outcome of only 1 type of cancer. Objective: To investigate whether natural language processing can predict survival of patients with general cancer from a patient's initial oncologist consultation document. Design, Setting, and Participants: This retrospective prognostic study used data from 47 625 of 59 800 patients who started cancer care at any of the 6 BC Cancer sites located in the province of British Columbia between April 1, 2011, and December 31, 2016. Mortality data were updated until April 6, 2022, and data were analyzed from update until September 30, 2022. All patients with a medical or radiation oncologist consultation document generated within 180 days of diagnosis were included; patients seen for multiple cancers were excluded. Exposures: Initial oncologist consultation documents were analyzed using traditional and neural language models. Main Outcomes and Measures: The primary outcome was the performance of the predictive models, including balanced accuracy and receiver operating characteristics area under the curve (AUC). The secondary outcome was investigating what words the models used. Results: Of the 47 625 patients in the sample, 25 428 (53.4%) were female and 22 197 (46.6%) were male, with a mean (SD) age of 64.9 (13.7) years. A total of 41 447 patients (87.0%) survived 6 months, 31 143 (65.4%) survived 36 months, and 27 880 (58.5%) survived 60 months, calculated from their initial oncologist consultation. The best models achieved a balanced accuracy of 0.856 (AUC, 0.928) for predicting 6-month survival, 0.842 (AUC, 0.918) for 36-month survival, and 0.837 (AUC, 0.918) for 60-month survival, on a holdout test set. Differences in what words were important for predicting 6- vs 60-month survival were found. Conclusions and Relevance: These findings suggest that models performed comparably with or better than previous models predicting cancer survival and that they may be able to predict survival using readily available data without focusing on 1 cancer type.


Asunto(s)
Procesamiento de Lenguaje Natural , Neoplasias , Humanos , Femenino , Masculino , Persona de Mediana Edad , Anciano , Estudios Retrospectivos , Neoplasias/terapia , Oncología Médica , Derivación y Consulta
6.
BMC Psychiatry ; 22(1): 543, 2022 08 11.
Artículo en Inglés | MEDLINE | ID: mdl-35953787

RESUMEN

BACKGROUND: Individuals with psychiatric disorders (PD) have a high prevalence of tobacco use. Patients with PD also potentially receive substandard care in comparison to the general population. Previous research has shown that individuals with PD have a decreased risk of receiving a tobacco related (TR) cancer diagnosis. To further assess this trend, this study assesses the survival of patients with a TR cancer with or without a PD. MATERIALS AND METHODS: Our study utilized multiple databases, with methods described elsewhere,6 to identify people in British Columbia that have been diagnosed with psychiatric disorders and appendicitis (our control group). From these groups, we selected individuals who also had a TR cancer. We subsequently extracted information pertaining to these patients from these databases. RESULTS: Thirty-nine thousand eight hundred forty-one patients with cancer were included in our study. Analyses of these patients were controlled for by age, gender, cancer type and diagnosis year. This analysis displayed shorter survival time among patients who were diagnosed with depression (HR = 1.16; p = 0.01; 95% CI: 1.04-1.29), schizophrenia (HR = 1.62; p < 0.01; 95% CI: 1.43-1.84), or bipolar disorder (HR = 1.35; p < 0.01; 95% CI: 1.12-1.64) compared to the cancer patients without a PD, all of which were statistically significant. People that were diagnosed with anxiety disorders did not have a survival time that was significantly different from our control population (HR = 1.07; p = 0.22; 95% CI: 0.96-1.19). CONCLUSIONS: Individuals with PD, except for those with anxiety, were found to have a shorter survival time following diagnosis with a TR cancer as compared to our control group. We hypothesize several factors, which may account for this statistically significant difference: (1) delayed diagnosis, (2) poor access to care, (3) poor assessment or follow-up, or (4) physician beliefs of poor treatment adherence.


Asunto(s)
Trastorno Bipolar , Trastornos Mentales , Neoplasias , Tabaquismo , Ansiedad , Trastornos de Ansiedad/epidemiología , Trastorno Bipolar/epidemiología , Humanos , Trastornos Mentales/diagnóstico , Trastornos Mentales/terapia
8.
Curr Oncol ; 28(3): 2227-2238, 2021 06 15.
Artículo en Inglés | MEDLINE | ID: mdl-34203638

RESUMEN

OBJECTIVES: Despite calls for better supportive care, patients and families still commonly bear significant responsibility for managing the physical and mental health and social challenges of being diagnosed with and treated for cancer. As such, there is increased advocacy for integrated supportive care to ease the burden of this responsibility. The purpose of this study was to understand patient and caregiver experiences with supportive care to advance its delivery at a large provincial cancer care organization in Canada. METHOD: We used a qualitative descriptive approach to analyze focus groups with patients and caregivers from seven sites across the large provincial cancer care organization. RESULTS: Focus group participants (n = 69) included cancer patients (n = 57) and caregivers (n = 12). Participants highlighted positive and negative aspects of their experience and strategies for improvement. These are depicted in three themes: (1) improving patient and provider awareness of services; (2) increasing access; (3) enhancing coordination and integration. Participants' specific suggestions included centralizing relevant information about services, implementing a coach or navigator to help advocate for access, and delivering care virtually. CONCLUSIONS: Participants highlighted barriers to access and made suggestions for improving supportive care that they believed would reduce the burden associated with trying to manage their cancer journey.


Asunto(s)
Cuidadores , Neoplasias , Canadá , Grupos Focales , Humanos , Neoplasias/terapia , Investigación Cualitativa
9.
J Geriatr Oncol ; 12(4): 612-617, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33158770

RESUMEN

OBJECTIVES: Little is known about how psychosocial factors and distress affect older patients with cancer and their survival. The study goals were to: 1) observe the prevalence of anxiety (ANX) and depression (DEP) symptoms at diagnosis in patients aged ≥65 years, 2) observe the association between social isolation (isolation) and distress, and 3) evaluate the impact on overall survival (OS). MATERIALS AND METHODS: A retrospective cohort study was completed for all patients ≥65 years (N = 25,382) referred to the provincial cancer care program in British Columbia, Canada from 2011 to 2016. Patients who completed the Psychosocial Screen for Cancer within 6 months of diagnosis were included. Baseline and disease characteristics were collected retrospectively. RESULTS: Subclinical/clinical levels of ANX and DEP were found in 32% and 23%, respectively. Thirty-six percent of patients reported at least one indicator for isolation. Factors associated with distress at presentation included female, age 65-69, lung cancer, metastatic disease, and presence of any risk indicator for isolation (p-values <0.001). Patients with any risk indicator for isolation had higher rates of subclinical/clinical levels of ANX and DEP. On multivariate analysis including age, sex and stage, hazard ratio (HR) for death was increased with ANX (1.30), DEP (1.51) and isolation (1.12) (p < 0.001). CONCLUSIONS: Older adults with cancer with symptoms of distress are more likely to be female, aged 65-69, socially isolated, have metastatic disease or have lung cancer. ANX, DEP, and isolation are independent negative prognostic variables for OS. This vulnerable population should receive psychological support to improve outcomes.


Asunto(s)
Neoplasias Pulmonares , Distrés Psicológico , Anciano , Ansiedad/epidemiología , Canadá , Depresión/epidemiología , Femenino , Humanos , Masculino , Medición de Resultados Informados por el Paciente , Estudios Retrospectivos , Estrés Psicológico/epidemiología
10.
J Adolesc Young Adult Oncol ; 9(4): 540-545, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32255694

RESUMEN

Purpose: Adolescents and young adults (AYA) (18-40) are a population of patients with cancer, who have distinctive developmental and psychosocial pressures. Using validated distress screening tools, we investigated psychosocial needs of AYA compared to older adults with cancer at diagnosis. Methods: AYA and older adult patients from British Columbia, Canada, between 2011 and 2016, who completed the Canadian Problem Checklist (CPC) and the PsychoSocial Screen for Cancer-Revised (PSSCAN-R) within 6 months of their cancer diagnosis were included in the study. Emotional, informational, physical, practical, social, and spiritual domain concerns are identified using the CPC. Psychosocial needs and distress are evaluated using the PSSCAN-R. Baseline demographics were obtained from the cancer registry. Based on gender, primary tumor site, and presence of metastasis, a 3:1 case match was performed with older adults (>40 years old). Statistical analyses included Chi square and Fisher's exact tests. Results: Two thousand and forty five AYA were case matched with 6050 older adults. Majority of patients were female (61.9%), and at diagnosis, 12.1% had metastatic disease. Top three tumor types were breast (20.4%), lymphoma (11.5%), and gastrointestinal (10.8%). The top five concerns for AYA (% AYA, % adults) were fear/worry (56.6, 42.9), understanding of illness (47.6, 41.4), sleep (35.2, 28.9), sadness (34.1, 20.0), and finances (33.8, 15.0). AYA reported higher symptoms of anxiety at baseline (% AYA, % older adults), both moderate (26.0, 19.9) and severe (26.6, 17.1) p < 0.01. Conclusion: Significant differences in psychosocial needs for AYA were seen at diagnosis across multiple domains, specifically, higher emotional, informational, physical, and financial distress. Development of supportive programming geared toward these domains early at diagnosis could benefit this distinct population.


Asunto(s)
Neoplasias/psicología , Medición de Resultados Informados por el Paciente , Estrés Psicológico/psicología , Adolescente , Adulto , Femenino , Humanos , Masculino , Adulto Joven
11.
Orbit ; 39(4): 233-240, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31466502

RESUMEN

PURPOSE: We describe the planning and outcomes of the first 'Blepharospasm Day' in the UK. Blepharospasm is a distressing condition for patients and carers. Our 'patient and public involvement' event aimed to: cultivate a more informed patient group via active dialogue, help clinicians more effectively prioritise research and to facilitate peer-to-peer support for affected patients and public. DESIGN: A national one-day event was organised by the oculoplastics department at Moorfields Eye Hospital. The event was divided into informative lectures delivered by professionals and a patient panel, during which patients shared their experiences and expectations. METHODS: Data were collected from a variety of sources including: an interactive voting "LiveWall" poster, a pre-event questionnaire; "living with Blepharospasm", transcripts from patient panel discussions; and a feedback questionnaire. RESULTS: The event was well-received with 100% of respondents rating it good or excellent. Four research themes were identified: "aetiology", "alternative treatments", "faster, more accurate diagnosis", and "symptom control". Delegates' self-reported knowledge of blepharospasm increased significantly after the event. Limitations of the BdSI severity-assessment tool were noted with 22% of respondents failing to utilise it appropriately. CONCLUSION: Through our innovative "Blepharospasm Day", patient's priorities for research were identified, delegates understanding of blepharospasm increased and an independent blepharospasm patients-representatives' group was established; a first in the UK. Furthermore, short-fallings identified in the BdSI tool highlight the need for better severity-assessment tools. We demonstrate the benefits of the 'patient and public involvement' approach in the management of complex conditions such as blepharospasm. ABBREVIATIONS: PPI: Patient and public involvement; SLV-PSP: sight loss and vision sector - priority setting partnership; BRC: Biomedical Research Centre; NIHR: National Institute for Health Research; BsDI: Blepharospasm Disability Index.


Asunto(s)
Investigación Biomédica/estadística & datos numéricos , Blefaroespasmo , Participación de la Comunidad/métodos , Prioridades en Salud/estadística & datos numéricos , Necesidades y Demandas de Servicios de Salud , Actitud Frente a la Salud , Evaluación de la Discapacidad , Humanos , Atención Primaria de Salud/estadística & datos numéricos , Reino Unido
12.
Breast Cancer Res Treat ; 179(2): 471-477, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31630293

RESUMEN

PURPOSE: This study evaluates the prevalence of emotional distress and psychosocial needs in young adult (YA, age 18-39) patients at the time of their breast cancer diagnosis compared to older patients. METHODS: Through a province-wide program, BC Cancer patients complete the PsychoSocial Scan for CANcer-Revised (PSSCAN-R) questionnaire, which screens for the presence of symptoms of anxiety and depression and assesses psychosocial needs using the Canadian Problem Checklist (CPC). The study population comprised all breast cancer patients who completed the questionnaire within 6 months of their cancer diagnosis between 2011 and 2016. Clinical information was retrospectively collected from electronic health records. Univariate and multivariate analyses using the X2, Fisher's exact test, and logistical regression were used to compare patient age groups. RESULTS: The cohort included 10,734 breast cancer patients: median age 62, 4% YA, 99% female, and 96% presented with non-metastatic disease. After adjusting for clinical and demographic variables, YA patients were more likely to report depression (33.6% vs. 25.5%, OR 1.47, p = 0.001) and anxiety symptoms (58.6% vs. 35.7%, OR 2.49, p < 0.001) than older patients. Psychosocial needs regarding work/school (OR 3.79, p < 0.001), intimacy/sexuality (OR 2.82, p < 0.001), and finances (OR 2.78, p < 0.001) were more common among YA than older adults. CONCLUSIONS: After a breast cancer diagnosis, YAs have higher levels of emotional distress compared to older patients. Differences in specific psychosocial needs likely reflect differences in life stage between these age groups. The data suggest that YAs warrant specific attention with respect to early psychosocial assessment and tailored intervention.


Asunto(s)
Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/psicología , Emociones , Necesidades y Demandas de Servicios de Salud , Distrés Psicológico , Apoyo Social , Adolescente , Adulto , Factores de Edad , Anciano , Neoplasias de la Mama/diagnóstico , Colombia Británica/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Evaluación del Resultado de la Atención al Paciente , Vigilancia en Salud Pública , Factores Socioeconómicos , Adulto Joven
13.
Sarcoma ; 2019: 5302639, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31354383

RESUMEN

INTRODUCTION: Information on the psychosocial distress and needs of sarcoma patients at diagnosis is sparse. The Canadian Problem Checklist (CPC) and Psychosocial Screen for Cancer-Revised (PSSCAN-R) are validated tools to identify cancer patients' distress and are administered to all new patients referred to BC Cancer prior to their consultation. We used the CPC and PSSCAN-R to understand sarcoma patients' needs at the initial oncology consultation in British Columbia, Canada. MATERIALS AND METHODS: All sarcoma patients who completed the CPC and PSSCAN-R within 6 months of diagnosis between 2011 and 2016 were included. The retrospective chart review identified baseline demographics: age, performance status, disease location, resectability, and histology. Analysis was conducted using descriptive statistics, chi-squared test, Fisher's exact test, and Kaplan-Meier method. RESULTS: 413 sarcoma patients were identified. The majority of patients were over the age of 40 (83.3%) with ECOG performance status 0-1 (82.6%) and lower extremity tumors (55.4%). The most common diagnoses were liposarcoma 21.3%, undifferentiated pleomorphic sarcoma 12.1%, and myxofibrosarcoma 11.1%. At the initial consultation, 42.6% of patients were deemed resectable, 8.5% unresectable/metastatic, and 48.9% required further staging investigations. The top three patient-reported distress symptoms were feeling tense and unable to relax (50%), feeling nervous and shaky (48%), and experiencing repetitive and scary thoughts (42%). 38% of patients had subclinical/clinical anxiety symptoms, and 21% of patients had subclinical/clinical depression symptoms. 5% of patients expressed suicidal ideation. The top three concerns/needs were understanding of illness/treatment (45.5%), fear/worries (45.3%), and worry about family (23%). No differences in overall survival were identified for patients displaying symptoms of depression or anxiety versus no symptoms. DISCUSSION: Up to 45% of sarcoma patients experience some form of psychological distress at disease presentation. Patients desire information about their diagnosis and treatment. Tailored interventions to individual psychological comorbidity and improved patient education resources would be beneficial.

14.
Psychooncology ; 28(4): 815-821, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30758101

RESUMEN

OBJECTIVE: The Psychosocial Screen for Cancer (PSSCAN-R) questionnaire is a validated screening tool used to identify the psychosocial needs of patients with cancer. It assesses patients' perceived social supports and psychosocial needs, and the presence of symptoms of depression and anxiety. The study goals were to assess the prevalence and factors associated with distress in patients with newly diagnosed nonsmall cell lung cancer (NSCLC). METHODS: All patients with NSCLC referred to BC Cancer centers from 2011 to 2015, who completed a prospective PSSCAN-R questionnaire at the time of their first visit, were included in the study. Demographics and baseline disease characteristics were collected retrospectively. The chi-squared test, Fisher exact test, and logistical regression analysis were used to compare factors associated with the presence of distress based on sex, age, stage of disease, and performance status (PS). RESULTS: A total of 4281 NSCLC patients completed the PSSCAN-R questionnaire. Baseline characteristics: 70% were greater than or equal to 65, 50% female, 52% metastatic disease, 47% Eastern Cooperative Oncology Group (ECOG) greater than or equal to two. Patients who were female, less than 65, have metastatic disease and poor PS were more likely to report subclinical or clinical symptoms of anxiety. Symptoms of depression were associated with younger, female, poor PS patients, and social isolation. CONCLUSIONS: Newly diagnosed patients with NSCLC are likely to report clinical symptoms of anxiety and depression and have a high number of concerns in multiple psychosocial domains. Resource development for lung cancer patients should be based on their care needs with careful consideration of patients' age, gender, stage, and social situation to optimally support their psychosocial needs during treatment and follow-up.


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas/psicología , Necesidades y Demandas de Servicios de Salud/estadística & datos numéricos , Neoplasias Pulmonares/psicología , Estrés Psicológico/psicología , Adulto , Anciano , Ansiedad/psicología , Carcinoma de Pulmón de Células no Pequeñas/complicaciones , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico , Depresión/psicología , Femenino , Humanos , Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/diagnóstico , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Apoyo Social , Estrés Psicológico/etiología , Encuestas y Cuestionarios
15.
Heart Lung Circ ; 27(11): e101-e104, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29678310

RESUMEN

Pulmonary hypertension is a serious condition with multiple underlying aetiologies which require different treatment strategies. We present a case of severe idiopathic pulmonary arterial hypertension in a 20-year-old patient with ongoing breathlessness. She was initially diagnosed with asthma and panic attacks in community care. As the symptoms became progressively worse, she was referred for pulmonary hypertension clinic assessment. Ventilation/perfusion single-photon emission computed tomography (V/Q SPECT) showed grossly abnormal perfusion defects which were mismatched to the ventilation scan, suggestive of chronic thromboembolic disease. However, corroborating computed tomographic (CT) pulmonary angiogram and invasive pulmonary angiography showed no thromboembolic disease. Histological examination of the pulmonary arteries post-mortem showed changes consistent with idiopathic pulmonary arterial hypertension. This case highlighted the clinical challenges in interpreting the investigation results and phenotyping pulmonary hypertension. V/Q SPECT might have a role in visualising the extent of vasculopathies in pulmonary arterial hypertension.


Asunto(s)
Hipertensión Pulmonar/diagnóstico , Arteria Pulmonar/diagnóstico por imagen , Presión Esfenoidal Pulmonar/fisiología , Tomografía Computarizada de Emisión de Fotón Único/métodos , Cateterismo Cardíaco , Angiografía por Tomografía Computarizada , Femenino , Humanos , Hipertensión Pulmonar/fisiopatología , Pulmón/diagnóstico por imagen , Embolia Pulmonar , Relación Ventilacion-Perfusión , Adulto Joven
16.
BMC Med Genet ; 18(1): 79, 2017 07 26.
Artículo en Inglés | MEDLINE | ID: mdl-28747166

RESUMEN

BACKGROUND: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC). CASE PRESENTATION: Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate hydratase deficiency, resulting in timely and possibly life-saving treatment. CONCLUSION: While the theoretical risk of kidney cancer in parents of children with recessive fumarate hydratase deficiency is well recognized, to our knowledge this is the first report of a kidney tumour being detected in a parent by screening performed for this indication. This underscores the importance of offering lifelong kidney surveillance to such parents and other heterozygous relatives of children born with fumarate hydratase deficiency.


Asunto(s)
Carcinoma de Células Renales/genética , Fumarato Hidratasa/deficiencia , Fumarato Hidratasa/genética , Neoplasias Renales/genética , Errores Innatos del Metabolismo/genética , Hipotonía Muscular/genética , Trastornos Psicomotores/genética , Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/patología , Detección Precoz del Cáncer , Femenino , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Lactante , Neoplasias Renales/complicaciones , Neoplasias Renales/diagnóstico , Neoplasias Renales/patología , Errores Innatos del Metabolismo/complicaciones , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/patología , Hipotonía Muscular/complicaciones , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/patología , Trastornos Psicomotores/complicaciones , Trastornos Psicomotores/diagnóstico , Trastornos Psicomotores/patología
17.
Psychiatry Res ; 232(1): 51-7, 2015 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-25745977

RESUMEN

Low-frequency oscillations in the electroencephalogram (EEG) have been found to be abnormal in patients with schizophrenia. It is unclear, however, whether these abnormalities are related to severity of illness or are a marker for risk. This study investigated total and evoked theta and delta activity in schizophrenia patients, unaffected siblings, and healthy controls (HCs). EEG data were recorded whilst 24 individuals with schizophrenia, 26 unaffected siblings of individuals with schizophrenia and 26 healthy control participants completed a Go/No-Go task. Event-related total activity and evoked theta and delta activity were calculated for correct hits (CH), failed inhibitions (FI) and correct inhibitions (CI) trials. Patients displayed significantly less total delta, evoked delta, total theta and evoked theta activity when compared with healthy controls. Unaffected siblings displayed abnormalities of evoked delta, but other measures were similar to those in control participants. The findings of this study add to evidence that abnormal low-frequency EEG oscillations contribute to impairments in information processing seen in schizophrenia. These findings also suggest abnormal evoked delta oscillations are associated with an increased familial risk of developing the disorder.


Asunto(s)
Potenciales Evocados/fisiología , Inhibición Psicológica , Esquizofrenia/fisiopatología , Hermanos , Adolescente , Ritmo Delta/fisiología , Electroencefalografía , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Ritmo Teta/fisiología , Adulto Joven
18.
Curr Opin Support Palliat Care ; 9(1): 40-5, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25581454

RESUMEN

PURPOSE OF REVIEW: An up-to-date summary of the literature on children's and adolescents' understanding of their own terminal illness and death. RECENT FINDINGS: Clinicians still find it difficult to speak with pediatric patients about death even though guidelines for facilitating communication on the topic exist. As a result, pediatric patients are less likely to develop a clear understanding of their illness and there is a disconnect between clinicians and parents about prognosis, even when clinicians have concluded there is no longer possibility for cure. Insufficient communication and poor understanding may increase the risk of patients feeling isolated, mistrustful and anxious, and deprive them of a role model who can communicate about painful issues or share difficult feelings. Despite these complexities, young people often show remarkable resiliency in the face of death and want to get the most out of the remaining time they have. SUMMARY: In addition to these most recent findings, this review examines the challenges in researching this topic, obstacles to patients receiving information about prognosis, and how physical symptoms affect patients' ability to develop an understanding. It also reviews sources of insight into pediatric patients' understanding including the development of concepts of death, fears about their own death, legal interpretations of what patients understand, and how terminally ill young people continue to treasure life. It concludes by addressing ways clinicians can use the knowledge we have to communicate well with dying children and adolescents and their families.


Asunto(s)
Actitud Frente a la Muerte , Comunicación , Cuidados Paliativos/organización & administración , Cuidado Terminal/organización & administración , Enfermo Terminal/psicología , Adolescente , Niño , Miedo , Humanos , Cuidados Paliativos/psicología , Relaciones Profesional-Familia , Pronóstico , Cuidado Terminal/psicología , Enfermo Terminal/legislación & jurisprudencia , Factores de Tiempo
19.
J Med Case Rep ; 8: 411, 2014 Dec 07.
Artículo en Inglés | MEDLINE | ID: mdl-25481247

RESUMEN

INTRODUCTION: Inflammatory myofibroblastic tumour arising in the adrenal gland is exceptional. As far as we are aware, there have been only three previous reports in the literature. We report a fourth case. CASE PRESENTATION: A 29-year-old Caucasian man presented with upper quadrant pain due to a 15cm heterogenous adrenal mass that displaced his liver. He underwent an open right adrenalectomy. Histopathological examination showed the mass to be an inflammatory myofibroblastic tumour, a histologically distinctive lesion composed of myofibroblasts, plasma cells, lymphocytes and histiocytes. Ten months later he is well with no sign of recurrence. CONCLUSIONS: The lesion was indistinguishable on imaging from an adrenal cortical tumour. Surgical treatment is the same but inflammatory myofibroblastic tumour carries a favourable prognosis.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales/diagnóstico , Adrenalectomía , Neoplasias de Tejido Muscular/diagnóstico , Neoplasias de las Glándulas Suprarrenales/patología , Neoplasias de las Glándulas Suprarrenales/cirugía , Adrenalectomía/métodos , Adulto , Supervivencia sin Enfermedad , Humanos , Inmunohistoquímica , Inflamación/diagnóstico , Masculino , Neoplasias de Tejido Muscular/patología , Neoplasias de Tejido Muscular/cirugía , Resultado del Tratamiento
20.
BMC Gastroenterol ; 14: 93, 2014 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-24885054

RESUMEN

BACKGROUND: Paneth cell metaplasia (PCM) is well described in adults but little is known about the distribution of colonic Paneth cells and the occurrence of PCM in a paediatric population. The aim of this study is to determine whether Paneth cell hyperplasia or metaplasia characteristically occurs in the colons of children with newly diagnosed idiopathic inflammatory bowel disease (IBD). METHODS: We retrospectively reviewed colonic series from 28 new diagnoses of paediatric IBD at a tertiary referral centre, and from a further 14 children with IBD-like symptoms whose colonic biopsies and ancillary investigations were normal. Paneth cells were counted at 6 anatomical sites in the colon, and at each site acute and chronic inflammation were assessed semi-quantitatively and the presence or absence of crypt architectural distortion and eosinophilia was documented. RESULTS: In control, ulcerative colitis (UC) and Crohn's disease (CD) groups there was a gradient of decreasing Paneth cell numbers from caecum to rectum. Paneth cells were not seen in the distal colon in the control group, but they were present there in 11 of 13 patients with ulcerative colitis and 14 of 15 with Crohn's disease. Only patients with IBD showed Paneth cell hyperplasia, assessed as more than 10 Paneth cells per 10 well-oriented crypts at any site. There was a statistically significant increase in Paneth cells in the caecum, ascending, transverse and descending colon in UC and in the ascending, transverse, descending and sigmoid colon in CD compared with controls. There was no significant difference between UC and CD. There was no correlation between the site of PCM and acute or chronic inflammation, crypt distortion or eosinophilia. CONCLUSION: Paneth cells are found in the proximal but not the distal colon in otherwise normal paediatric colonic series. A high proportion of UC and CD patients show PCM in the distal colon. This is present early in the disease and does not correlate with histological features of chronicity.


Asunto(s)
Ciego/patología , Colitis Ulcerosa/patología , Colon/patología , Enfermedad de Crohn/patología , Células de Paneth/patología , Recto/patología , Adolescente , Biopsia , Estudios de Casos y Controles , Niño , Femenino , Humanos , Hiperplasia , Masculino , Metaplasia , Estudios Retrospectivos
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