RESUMEN
PURPOSE: WisQoL (Wisconsin Stone Quality of Life questionnaire) is a disease specific, health related quality of life measure designed for patients who form kidney stones. The goal of this study was to develop and validate a German version of WisQoL. METHODS: The German version of the WisQoL was developed following a standardized multistep process. Patients were recruited prior to stone treatment, and completed the questionnaire as well as the SF-36v2 (36-Item Short Form Health Survey). This was repeated 1, 3, and 6 months after stone surgery. Scores of the 28 questionnaire items were summarized into sum scores for four domains and a total score. The psychometric properties of the questionnaire were statistically analyzed. RESULTS: The German WisQoL demonstrated excellent internal consistency (Cronbach's α > 0.90 for all domains at all visits). All inter-domain associations were positive. The test-retest reliability for patients with unchanged self-reported health state was considered satisfactory (Spearman's rho for total score 0.70 [95% CI 0.55 to - 0.80]). The German WisQoL demonstrated good convergent validity with the validated SF-36v2 (correlation between corresponding items 0.44 to 0.64). All domain scores showed significant sensitivity to change induced by stone treatment (p ≤ 0.05). Total WisQoL scores generally improved during the first 3 months following stone treatment, and remained stable thereafter. CONCLUSION: The German WisQoL proved to be a reliable and robust instrument to evaluate health related quality of life measures of kidney stone patients in the clinical setting. It is expected to be of use for further research in patients with kidney stones.
Asunto(s)
Autoevaluación Diagnóstica , Cálculos Renales , Calidad de Vida , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Cálculos Renales/diagnóstico , Lenguaje , Masculino , Persona de Mediana Edad , Traducciones , Adulto JovenRESUMEN
BACKGROUND: Patients with primary hyperparathyroidism (pHPT) and a negative preoperative Tc-99 sestamibi (MIBI) scintigraphy are considered to have a higher risk of persistent disease. The aim of this study was to assess whether additional imaging with C-11 methionine positron emission tomography/computed tomography (Met-PET/CT) is able to localise sestamibi-negative hyperfunctioning parathyroid glands. METHODS: In 50 patients (38 females, 12 males, age 13-81 years) with pHPT and negative localisation procedures such as ultrasound and sestamibi, a Met-PET/CT was performed before parathyroid surgery. The results of Met-PET/CT were analysed prospectively and compared with intraoperative and histopathological findings. 22% of the patients underwent previous parathyroid and/or thyroid surgery. RESULTS: Met-PET/CT correctly located a single-gland adenoma in 33 of 45 (73%) patients with pHPT. In 5 patients with multiglandular disease, Met-PET/CT detected at least one hyperfunctional parathyroid gland in 4 patients (80%). In 3 patients with double adenomas, 5 of 6 parathyroids were correctly located. Overall, 40 of 57 (70%) hyperfunctioning glands were identified with Met-PET/CT. Met-PET/CT was false-negative in 12 of 50 (24%) patients and false-positive in only one case (2%). Postoperatively, 48 of 50 patients (96%) were cured. CONCLUSIONS: Additional pre-interventional imaging with Met-PET/CT was able to identify hyperfunctioning parathyroid glands in 74% of patients with pHPT and negative sestamibi scans, thus enabling successful parathyroid surgery.
Asunto(s)
Adenoma/diagnóstico por imagen , Metionina , Neoplasias de las Paratiroides/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Radiofármacos , Adenoma/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Hiperparatiroidismo Primario/etiología , Masculino , Persona de Mediana Edad , Paratiroidectomía , Estudios Prospectivos , Tecnecio Tc 99m Sestamibi , Adulto JovenRESUMEN
For a growing number of tumors the BRAF V600E mutation carries therapeutic relevance. In histiocytic proliferations the distribution of BRAF mutations and their relevance has not been clarified. Here we present a retrospective genotyping study and a prospective observational study of a patient treated with a BRAF inhibitor. Genotyping of 69 histiocytic lesions revealed that 23/48 Langerhans cell lesions were BRAF-V600E-mutant whereas all non-Langerhans cell lesions (including dendritic cell sarcoma, juvenile xanthogranuloma, Rosai-Dorfman disease, and granular cell tumor) were wild-type. A metareview of 29 publications showed an overall mutation frequency of 48.5% and with N=653 samples this frequency is well defined. The BRAF mutation status cannot be predicted based on clinical parameters and outcome analysis showed no difference. Genotyping identified a 45 year-old woman with an aggressive and treatment-refractory, ultrastructurally confirmed systemic BRAF-mutant LCH. Prior treatments included glucocorticoid/vinblastine and cladribine-monotherapy. Treatment with vemurafenib over 3 months resulted in a dramatic metabolic response by FDG-PET and stable radiographic disease; the patient experienced progression after 6 months. In conclusion, BRAF mutations in histiocytic proliferations are restricted to lesions of the Langerhans-cell type. While for most LCH-patients efficient therapies are available, patients with BRAF mutations may benefit from the BRAF inhibitor vemurafenib.