Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis.

Identification of qualitative variants of von Willebrand disease (VWD) can be a diagnostic challenge because of discrepant results obtained in the multiple laboratory tests available for its appropriate classification. We report two cases of infrequent inherited variants of VWD with unclear preliminary results with the test panel available at the time of first consultation and that were finally diagnosed as a VWD type 2A/IID with a c.8318 G > C, p.Cys2773Ser mutation and a VWD type 2M with c.4225 T > G, p.Val1409Phe mutation, respectively. The description of these two cases highlights that despite the limited diagnostic panel for the evaluation of von Willebrand Factor (VWF) functionality, the multimeric analysis and genetic family studies were fundamental tools to achieve the final diagnosis.

[Detection and analysis of adverse drug reactions in a general hospital's emergency department]. / Detección y análisis de reacciones adversas a medicamentos en el servicio de urgencias de un hospital general.

OBJECTIVE: To detect and analyze adverse drug reactions (ADR) leading to emergency room visits in our hospital, as well as their severity and outcome, and medications most commonly involved, from selected alerting diagnoses. METHOD: A retrospective study for the period from January 2003 to December 2004, where all reports by the emergency department including our wanted diagnoses were reviewed. RESULTS: A total of 1,626 reports with alerting diagnoses were found, of which 444 (27.3%) were confirmed as potential adverse drug reactions. Of 444 cases, 345 (77.7%) were discharged to their homes and 90 (20%) were admitted. In all, 52.9% of adverse drug reactions were considered moderate, and 19.6% were considered serious. The major age group involved was that of patients older than 65 years (65.1%), and was involved in 83.9% of adverse drug reactions. Drugs most commonly involved included insulins (26.1%), diuretics (17.3%), digoxin (10.9%), and oral antidiabetics (9.5%). Major organs and systems involved included the endocrine system (55.6%), musculoskeletal system (11%) and cardiovascular system (10.8%). CONCLUSIONS: Drugs commonly used in clinical practice, including insulins, diuretics or oral antidiabetics induce many of the adverse reactions that lead patients to visit emergency departments. A closer monitoring of therapies is still needed to prevent adverse drug reactions.

[Iatrogenic hyperthyroidism secondary to weight loss medication. Predictive factors for their precocious detention]. / Hipertiroidismo yatrógeno secundario a cápsulas adelgazantes. Factores predictivos para su detección precoz.

OBJECTIVE: To establish the differential clinical characteristics between the Iatrogenic hyperthyroidism for not conventional medication for obesity treatment (weight losers) and the endogenous by Graves Basedow disease. PATIENT AND METHODS: Observational and analytical study, populational based, in the one which prospectively were compared cases with Iatrogenic hyperthyroidism (secondary to weight losers) with those with endogenous hyperthyroidism (Graves Basedow disease) as controls. Consisted of the variable clinical record of 100 correlative patients that consulted in specialized attention of endocrinology for Iatrogenic hyperthyroidism secondary to weight losers and for Graves Basedow disease. RESULTS: The differences observed between Iatrogenic hyperthyroidism (secondary to weight losers) (n = 43) as compared to endogenous hyperthyroidism (Graves Basedow disease) (n = 57) were: smaller age (31.8 +/- 10 as compared to 37.8 +/- 12.6 years), greater body mass index (27.6 +/- 7.2 as compared to 23.4 +/- 3.1), smaller goiter frequency (16.3% as compared to 84.2%) as well as absence of signs of ophthalmopathy (0% as compared to 57.9%). Both groups had low levels of TSH, and the difference rests in the values of free T4, low in the first group and increased in the endogenous hyperthyroidism. The odds ratio were: IMC > 27: 3.92 (0.91-16.72), age < 33 years: 5.58 (1.42-21.99), absence of goiter: 23.29 (6.39-84.85). The precedent of weight losers use was not selective of the first group, being detected in a 12.3% of cases of endogenous hyperthyroidism, though in periods of time remoter in relationship to the beginning of the clinic. CONCLUSIONS: In the differential diagnosis of a case of hyperthyroidism, it can be suspected Iatrogenic hyperthyroidism (secondary to weight losers) for medication for the obesity in patients of the feminine sex with overweight, without previous or familiar history of thyroid disease, and in those which in the physical exploration is not verified goiter neither ophthalmopathy.

Detección y análisis de reacciones adversas a medicamentos en el servicio de urgencias de un hospital general / Detection and analysis of adverse drug reactions in a general hospital's emergency department

Objetivo: Detectar y analizar a partir de unos diagnósticos alertantes seleccionados las reacciones adversas a medicamentos (RAM) que ocasionaron consultas al servicio de urgencias de nuestro hospital, su gravedad y la evolución de los pacientes afectados, así como los fármacos más comúnmente implicados en las mismas. Método: Estudio retrospectivo perteneciente al periodo enero 2003-diciembre 2004, en el que se revisaron todos aquellos informes elaborados por el servicio de urgencias en los que figuraban los diagnósticos buscados. Resultados: Se encontraron un total de 1.626 informes con los diagnósticos alertantes, de los cuales 444 (27,3%) se confirmaron como posibles reacciones adversas a medicamentos. De los 444 casos, 345 (77,7%) recibieron el alta domiciliaria y 90 (20%)fueron ingresados. El 52,9% de las reacciones adversas fueron consideradas moderadas y el 19,6% graves. El principal grupo de edad afectado fue el de los mayores de 65 años (65,1%) y estuvo implicado en el 83,9% de las reacciones adversas graves. Los fármacos más comúnmente implicados fueron las insulinas (26,1%), los diuréticos (17,3%), la digoxina (10,9%) y los antidiabéticos orales (9,5%). Los principales órganos y aparatos afectados fueron el sistema endocrino (55,6%), el aparato músculo esquelético (11%) y el aparato cardiovascular (10,8%). Conclusiones: Fármacos de uso muy habitual en la práctica clínica como las insulinas, diuréticos o antidiabéticos orales ocasionan muchas de las reacciones adversas que llevan a los pacientes a los servicios de urgencias. El control más estrecho de los tratamientos sigue siendo necesario para prevenir la aparición de reacciones adversas a medicamentos

Objective: To detect and analyze adverse drug reactions (ADR) leading to emergency room visits in our hospital, as well as their severity and outcome, and medications most commonly involved, from selected alerting diagnoses. Method: A retrospective study for the period from January 2003 to December 2004, where all reports by the emergency department including our wanted diagnoses were reviewed. Results: A total of 1,626 reports with alerting diagnoses were found, of which 444 (27.3%) were confirmed as potential adverse drug reactions. Of 444 cases, 345 (77.7%) were discharged to their homes and 90 (20%) were admitted. In all, 52.9% of adverse drug reactions were considered moderate, and 19.6% were considered serious. The major age group involved was that of patients older than 65 years (65.1%), and was involved in 83.9% of adverse drug reactions. Drugs most commonly involved included insulins (26.1%), diuretics (17.3%), digoxin (10.9%), and oral antidiabetics (9.5%). Major organs and systems involved included the endocrine system (55.6%), musculo skeletal system (11%) and cardiovascular system (10.8%). Conclusions: Drugs commonly used in clinical practice, including insulins, diuretics or oral antidiabetics induce many of the adverse reactions that lead patients to visit emergency departments. A closer monitoring of therapies is still needed to prevent adverse drug reactions