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1.
Fam Cancer ; 22(2): 135-149, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36029389

RESUMEN

In the Republic of Ireland (ROI), BRCA1/BRCA2 genetic testing has been traditionally undertaken in eligible individuals, after pre-test counselling by a Clinical Geneticist/Genetic Counsellor. Clinical Genetics services in ROI are poorly resourced, with routine waiting times for appointments at the time of this pilot often extending beyond a year. The consequent prolonged waiting times are unacceptable where therapeutic decision-making depends on the patient's BRCA status. "Mainstreaming" BRCA1/BRCA2 testing through routine oncology/surgical clinics has been implemented successfully in other centres in the UK and internationally. We aimed to pilot this pathway in three Irish tertiary centres. A service evaluation project was undertaken over a 6-month period between January and July 2017. Eligible patients, fulfilling pathology and age-based inclusion criteria defined by TGL clinical, were identified, and offered constitutional BRCA1/BRCA2 testing after pre-test counselling by treating clinicians. Tests were undertaken by TGL Clinical. Results were returned to clinicians by secure email. Onward referrals of patients with uncertain/pathogenic results, or suspicious family histories, to Clinical Genetics were made by the treating team. Surveys assessing patient and clinician satisfaction were sent to participating clinicians and a sample of participating patients. Data was collected with respect to diagnostic yield, turnaround time, onward referral rates, and patient and clinician feedback. A total of 101  patients underwent diagnostic germline BRCA1/BRCA2 tests through this pathway. Pathogenic variants were identified in 12 patients (12%). All patients in whom variants were identified were appropriately referred to Clinical Genetics. At least 12 additional patients with uninformative BRCA1/BRCA2 tests were also referred for formal assessment by Clinical Geneticist or Genetic Counsellor. Issues were noted in terms of time pressures and communication of results to patients. Results from a representative sample of participants completing the satisfaction survey indicated that the pathway was acceptable to patients and clinicians. Mainstreaming of constitutional BRCA1/BRCA2 testing guided by age- and pathology-based criteria is potentially feasible for patients with breast cancer as well as patients with ovarian cancer in Ireland.


Asunto(s)
Neoplasias de la Mama , Neoplasias Ováricas , Humanos , Femenino , Pruebas Genéticas , Proyectos Piloto , Irlanda , Estudios de Factibilidad , Proteína BRCA2/genética , Proteína BRCA1/genética , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genética , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal
2.
BMJ Case Rep ; 14(5)2021 May 28.
Artículo en Inglés | MEDLINE | ID: mdl-34049896

RESUMEN

In recent years, immunotherapy has revolutionised the treatment landscape for oncology patients with improved survival rates in cancers which previously had a dismissal prognosis. These agents target specific pathways of inhibition such as programmed cell death -1 (PD-1), PD ligand-1 and cytotoxic T-lymphocyte-associated antigen 4 resulting in stimulation of T cell activity. This results in enabling an individual's own immune system to fight against cancer, a different modality of treatment when compared with traditional chemotherapy. While attacking the tumour cells, there is an increased chance of host tissue immune reactions.We report a case of a patient who received immunotherapy for metastatic malignant melanoma. During the course of the treatment, development of a sarcoid-like reaction was histologically confirmed in the mediastinal lymph nodes. The patient had no respiratory symptoms and continued on the immunotherapy treatment with good clinical and radiological response.


Asunto(s)
Melanoma , Sarcoidosis , Neoplasias Cutáneas , Humanos , Inmunoterapia , Melanoma/terapia , Receptor de Muerte Celular Programada 1 , Sarcoidosis/diagnóstico por imagen , Sarcoidosis/terapia , Neoplasias Cutáneas/terapia
3.
Br J Nurs ; 28(4): S4-S11, 2019 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-30811242

RESUMEN

This pilot study aimed to ascertain if bone pain induced by granulocyte-colony stimulating factors (G-CSFs) can be alleviated or eliminated by oral antihistamine loratadine. Twelve patients with cancer receiving chemotherapy were included in the study. Daily pain increased between before treatment started and after cycle 1 in all patients. All 12 participants were started on loratadine on cycle 2; three patients were taking pain medications in addition to this as needed, which were ibruprofen (n=1) or tramadol (n=2). Pain decreased towards the later cycles after patients were started on loratadine in cycle 2, with the exception of one patient who also took tramadol as needed in cycle 3. Oral loratadine was found to be associated with pain reduction in patients with cancer receiving G-CSFs.


Asunto(s)
Enfermedades Óseas/prevención & control , Factor Estimulante de Colonias de Granulocitos/efectos adversos , Loratadina/administración & dosificación , Dolor/tratamiento farmacológico , Administración Oral , Adulto , Anciano , Enfermedades Óseas/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/tratamiento farmacológico , Proyectos Piloto , Resultado del Tratamiento
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