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1.
J Med Genet ; 2024 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-39137963

RESUMEN

Prostate cancer (PrCa) is a largely heritable and polygenic disease. It is the most common cancer in people with prostates (PwPs) in Europe and the USA, including in PwPs of African descent. In the UK in 2020, 52% of all cancers were diagnosed at stage I or II. The National Health Service (NHS) long-term plan is to increase this to 75% by 2028, to reduce absolute incidence of late-stage disease. In the absence of a UK PrCa screening programme, we should explore how to identify those at increased risk of clinically significant PrCa.Incorporating genomics into the PrCa screening, diagnostic and treatment pathway has huge potential for transforming patient care. Genomics can increase efficiency of PrCa screening by focusing on those with genetic predisposition to cancer-which when combined with risk factors such as age and ethnicity, can be used for risk stratification in risk-based screening (RBS) programmes. The goal of RBS is to facilitate early diagnosis of clinically significant PrCa and reduce overdiagnosis/overtreatment in those unlikely to experience PrCa-related symptoms in their lifetime. Genetic testing can guide PrCa management, by identifying those at risk of lethal PrCa and enabling access to novel targeted therapies.PrCa is curable if diagnosed below stage III when most people do not experience symptoms. RBS using genetic profiling could be key here if we could show better survival outcomes (or reduction in cancer-specific mortality accounting for lead-time bias), in addition to more cost efficiency than age-based screening alone. Furthermore, PrCa outcomes in underserved communities could be optimised if genetic testing was accessible, minimising health disparities.

2.
BMJ Case Rep ; 17(8)2024 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-39142839

RESUMEN

A woman in her 20s with no medical history was diagnosed with bulky stage II classic Hodgkin's lymphoma after an 8-week history of shortness of breath, cough and lethargy. A regimen of doxorubicin (Adriamycin), bleomycin, vinblastine and dacarbazine (ABVD) was commenced with six cycles planned. During the first cycle, the patient was profoundly hypertensive. She then suffered two self-terminating tonic-clonic seizures.Examination and investigations diagnosed posterior reversible encephalopathy syndrome (PRES), which resolved completely in 11 days with strict blood pressure control and withholding chemotherapy. Treatment was further complicated by anthracycline-induced cardiomyopathy, requiring a switch in regimen to gemcitabine BVD.The patient made a full recovery from neurology and cardiology perspectives and completed six cycles of chemotherapy, achieving a complete metabolic response by the tumour. We illustrate the case, describe differential diagnoses and management of PRES, its association with chemotherapy and the successful chemotherapy rechallenge.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica , Bleomicina , Cardiomiopatías , Dacarbazina , Doxorrubicina , Enfermedad de Hodgkin , Síndrome de Leucoencefalopatía Posterior , Vinblastina , Humanos , Enfermedad de Hodgkin/tratamiento farmacológico , Femenino , Síndrome de Leucoencefalopatía Posterior/inducido químicamente , Síndrome de Leucoencefalopatía Posterior/diagnóstico , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Cardiomiopatías/inducido químicamente , Cardiomiopatías/diagnóstico , Doxorrubicina/efectos adversos , Dacarbazina/efectos adversos , Bleomicina/efectos adversos , Vinblastina/efectos adversos , Vinblastina/uso terapéutico , Adulto , Diagnóstico Diferencial , Antraciclinas/efectos adversos , Gemcitabina , Imagen por Resonancia Magnética
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