6 research outputs found
The importance of the given history in the differential diagnosis of blue nodules
A 76-year-old woman presented with a poorly circumscribed, blue-purple nodule with prominent bright-red branching vessels on her left nipple (Fig 1). Clinically, the main differential diagnosis was pigmented basal cell carcinoma, melanoma, and hemorrhagic metastasis of unknown internal malignancy. Regarding the lesions history, the patient reported on the development of the nodule approximately 2 weeks after an accidental fall 2 months before. Based on the given history, posttraumatic hematoma was included in the differential diagnosis and the patient was referred for biopsy
Psychometric Field Study of Hereditary Angioedema Quality of Life Questionnaire for Adults : hAE-QoL
Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) may affect health-related quality of life (HRQoL). A specific HRQoL questionnaire for adult patients with C1-INH-HAE, the HAE-QoL, has recently been developed in Spain. Objective: The objective of this study was to perform a cross-cultural validation and psychometric study of the HAE-QoL in an international setting. Methods: Cross-cultural adaptation of the Spanish HAE-QoL draft version and an international rating phase with experts were performed. The resultant version of the HAE-QoL, a clinical questionnaire, and Short Form 36-item Health Survey Version 2.0 (SF-36v2) were pilot tested internationally. Item reduction was based on both descriptive and exploratory factor analysis. Psychometric properties were assessed. Results: Cross-cultural adaptation of the HAE-QoL was performed in 18 countries. The draft version of the HAE-QoL was pilot tested in 332 patients, and accurate data were obtained from 290 patients from 11 countries. The reduction process resulted in a new version with 25 items and 7 dimensions (treatment difficulties, physical functioning and health, disease-related stigma, emotional role and social functioning, concern about offspring, perceived control over illness, and mental health). Strong psychometric properties were observed (Cronbach´s α 0.92; test-retest reliability 0.87). Convergent validity showed mild to moderate correlations with SF-36v2 physical and mental component summaries (0.45 and 0.64, respectively) and with SF-36v2 dimensions (P < .004). HAE-QoL scores discriminated significantly among severity groups (median: asymptomatic 133.5 vs severe 84.0; P < .001); between patients with and without long-term prophylaxis (median: 101 vs 90; P = .001); and between patients with and without psychiatric and/or psychological care (median: 74 vs 103; P ≤ .001). Conclusions: The HAE-QoL, currently available in 18 languages, showed good reliability and validity evidence.Fil: Prior, Nieves. Hospital Universitario Severo Ochoa; EspañaFil: Remor, Eduardo. Universidad Autónoma de Madrid; EspañaFil: Pérez Fernández, Elia. Fundacion Hospital Alcorcon; EspañaFil: Caminoa, Magdalena. Instituto de Investigacion Hospital Universitario la Paz ; EspañaFil: Gómez-Traseira, Carmen. Instituto de Investigacion Hospital Universitario la Paz ; EspañaFil: Gayá, Francisco. Instituto de Investigacion Hospital Universitario la Paz ; EspañaFil: Aabom, Anne. Odense University Hospital; DinamarcaFil: Aberer, Werner. Medical University; AustriaFil: Betschel, Stephen. Saint Michael's Hospital; CanadáFil: Boccon Gibod, Isabelle. Joseph Fourier University; Francia. Grenoble University Hospital; FranciaFil: Bouillet, Laurence. Joseph Fourier University; Francia. Grenoble University Hospital; FranciaFil: Bygum, Anette. Odense University Hospital; DinamarcaFil: Csuka, Dorottya. Semmelweis University; HungrÃaFil: Farkas, Henriette. Semmelweis University; HungrÃaFil: Gomide, Maria. Universidade de Sao Paulo; BrasilFil: Grumach, Anete. Universidade de Sao Paulo; BrasilFil: Leibovich, Iris. Chaim Sheba Medical Center; IsraelFil: Malbrán, Alejandro. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud "Dr. C. G. Malbrán"; Argentina. Consejo Nacional de Investigaciones CientÃficas y Técnicas; ArgentinaFil: Moldovan, Dumitru. Mures County Hospital; RumaniaFil: Mihaly, Eniko. Mures County Hospital; RumaniaFil: Obtulowicz, Krystyna. Jagiellonian University; PoloniaFil: Perpén, Cecilia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud "Dr. C. G. Malbrán"; ArgentinaFil: Peveling Oberhag, Adriane. University Medical Center Mainz; AlemaniaFil: Porebski, Grzegorz. Jagiellonian University; PoloniaFil: Chavannes, Celine Rayonne. Saint Michael's Hospital; CanadáFil: Reshef, Avner. Chaim Sheba Medical Center; IsraelFil: Staubach, Petra. University Medical Center Mainz; AlemaniaFil: Wiednig, Michaela. Medizinische University; AustriaFil: Caballero, Teresa. Instituto de Investigacion Hospital Universitario la Paz ; Españ
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Cerebral cavernous malformations (CCM) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing requires either a positive family history of cavernous lesions or clinical symptoms such as chronic headaches, epilepsy, neurological deficits, and hemorrhagic stroke or the occurrence of multiple lesions in an isolated case. Following these inclusion criteria, the mutation detection rates in a consecutive series of 105 probands were 87% for familial and 57% for isolated cases. Thirty-one novel mutations were identified with a slight shift towards proportionally more CCM3 mutations carriers than previously published (CCM1: 60%, CCM2: 18%, CCM3: 22%). In-frame deletions and exonic missense variants requiring functional analyses to establish their pathogenicity were rare: An in-frame deletion within the C-terminal FERM domain of CCM1 resulted in decreased protein expression and impaired binding to the transmembrane protein heart of glass (HEG1). Notably, 20% of index cases carrying a CCM mutation were below age 10 and 33% below age 18 when referred for genetic testing. Since fulminant disease courses during the first years of life were observed in CCM1 and CCM3 mutation carriers, predictive testing of minor siblings became an issue.peerReviewe