Search results for "rare disease"
showing 10 items of 154 documents
Endovascular management of carotid artery dissections with the use of new generation stents and protection systems
2016
Dissection of the internal carotid artery (ICA) is a rare disease, but in young patients is responsible for about 20% of cerebral events. We presented three different cases of ICA dissection, including one iatrogenic and two spontaneous ones, which were successfully managed endovascularly, with the use of different techniques, different protection devices and stents. In this article, the clinical management and details of procedures were described.
Wilson's disease in Spain: validation of sources of information used by the Rare Diseases Registries
2021
[ES] Objetivo: Evaluar las fuentes de información empleadas por los Registros Autonómicos de Enfermedades Raras (RAER) para la captación de la enfermedad de Wilson en España, calcular su prevalencia y mortalidad, y describir las características sociodemográficas de las personas afectadas. Método: Estudio epidemiológico transversal, periodo 2010-2015. Se captaron los posibles casos mediante los códigos 275.1 (CIE-9-MC), E83.0 (CIE-10) y 905 ORPHA en 15 RAER y el Registro de Pacientes de Enfermedades Raras del Instituto de Salud Carlos III. Los diagnósticos fueron validados revisando la documentación clínica. Se calcularon el valor predictivo positivo (VPP) de las fuentes de información, la p…
Occupational risk factors for mycosis fungoides: a European multicenter case-control study.
2004
Mycosis fungoides (MF) is a rare disease with an unknown etiology. Its distribution suggests that occupational exposures may play a role. In the present study, we searched for occupational factors associated with MF. A European multicenter case-control study on seven rare cancers, including MF, was conducted from 1995 to 1997. Patients between 35 and 69 years of age diagnosed with MF (n = 134) were identified and their diagnoses were checked by a reference pathologist who classified 83 cases as definitive, 35 cases as possible, and 16 cases as not histologically verified. Of the 118 histologically verified cases, 104 were interviewed, of which 76 were definitive cases. As controls, we selec…
“Puffy hand syndrome”
2016
Resume La toxicomanie intraveineuse est responsable de nombreuses complications notamment cutanees et infectieuses. Il existe un syndrome rarement observe en rhumatologie se traduisant par des « grosses mains » : le puffy hand syndrome. Nous en rapportons deux cas rencontres en consultation de rhumatologie chez deux patients toxicomanes. Il s’agit d’un œdeme des mains, bilateral, indolore, ne prenant pas le godet, survenant chez un de nos patients pendant l’intoxication par heroine, et chez l’autre 2 ans apres avoir arrete ses injections. Chez nos deux patients les bilans complementaires (biologiques, radiologiques, echographiques) etaient sans particularite, ce qui a permis dans le context…
Ménétrier's disease in a patient with refractory ulcerative colitis: a clinical challenge and review of the literature
2023
Ménétrier’s disease (MD) is a rare disease of the stomach, characterised by hypertrophic gastric folds leading to protein loss. The association with ulcerative colitis (UC) is rare but has been reported in the literature. We report a case of a 29-year-old male affected by UC with an additional diagnosis of MD 3 years after UC diagnosis. UC was refractory to several treatment lines (thiopurines, infliximab, vedolizumab and ustekinumab), and the patient underwent colectomy. Octreotide was administered for MD normalising blood biochemistry, but it was not effective in inducing endoscopic remission of the stomach. Treatment options in patients with MD and UC are discussed.
Survival and prognostic factors in patients with oral squamous cell carcinoma
2020
Background This study aimed to evaluate sociodemographic and clinical factors influencing overall survival (OS) in patients with oral squamous cell carcinoma (OSCC). Material and Methods Medical charts of 547 patients with OSCC from a public hospital in northeastern Brazil seen between 1999 and 2013 were evaluated. Survival analysis was performed using the Kaplan-Meier method. The influence of age, sex, ethnicity, clinical stage, anatomical location, type of treatment, and comorbidities on the patients’ prognosis was evaluated. Cox proportional hazards regression model was used to identify independent prognostic factors. Results The 5-year OS was 39%. Multivariate analysis showed that age <…
Autoimmune polyglanduläre Syndrome
2013
The autoimmune polyglandular syndrome (APS) is defined as the manifestation of at least two endocrine autoimmune diseases. In order to take the wide spectrum of components and the variations of the disease fully into account, APS is usually divided up into the rare juvenile type (APS I) and the more common adult type (APS II-IV). APS I is caused by a monogenetic mutation whereas APS II-IV has a multifactorial genesis with combination related subgroups. Early diagnosis, individual adjustment of therapy and screening of high risk patients in particular are regarded as clinically relevant. In addition to the patient's history, the diagnosis of APS encompasses serologic measurement of organ-spe…
Development and implementation of the AIDA International Registry for patients with Behçet's disease
2022
AbstractPurpose of the present paper is to point out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to pediatric and adult patients with Behçet’s disease (BD). The Registry is a clinical physician-driven non-population- and electronic-based instrument implemented for the retrospective and prospective collection of real-life data about demographics, clinical, therapeutic, laboratory, instrumental and socioeconomic information from BD patients; the Registry is based on the Research Electronic Data Capture (REDCap) tool, which is thought to collect standardised information for clinical real-life research, and has been rea…
Primary umbilical endometrioma: Analyzing the pathogenesis of endometriosis from an unusual localization
2015
Abstract Objective This report presents a rare case of symptomatic primary umbilical endometriosis and reviews the literature on the topic with the aim to clarify some questions on the origin of endometriosis. Case report A 33-year-old woman with cyclic umbilical bleeding was found to have umbilical endometriosis. She had no history of pelvic or abdominal surgery. There was no past history of endometriosis or endometriosis-associated symptoms. An omphalectomy was performed after explorative laparoscopy to carefully inspect the abdominopelvic cavity and assess any coexisting pelvic endometriotic lesions. Histological examination confirmed the diagnosis of umbilical endometriosis. Conclusion …
Hereditary angioedema in children and adolescents - A consensus update on therapeutic strategies for German-speaking countries.
2020
Background/methods At a consensus meeting in August 2018, pediatricians and dermatologists from German-speaking countries discussed the therapeutic strategy for the treatment of pediatric patients with type I and II hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) for Germany, Austria, and Switzerland, taking into account the current marketing approval status. HAE-C1-INH is a rare disease that usually presents during childhood or adolescence with intermittent episodes of potentially life-threatening angioedema. Diagnosis as early as possible and an optimal management of the disease are important to avoid ineffective therapies and to properly treat swelling attacks. This art…