[Contiguous gene deletion syndrome in Xp21: an unusual form of presentation]. / Síndrome de deleción de genes contiguos en Xp21: una forma inusual de presentación.

INTRODUCTION: We report a case of an infant where the association of Duchenne's muscular dystrophy (DMD) and pseudohypertriglyceridaemia led to the diagnosis of contiguous gene deletion syndrome in Xp21. CASE REPORT: A 7-month-old male infant who was referred due to psychomotor retardation. The examination revealed pronounced axial hypotonia. Lab findings showed high levels of muscular enzymes with creatine phosphokinase levels of 12,829 IU/L, together with high blood levels of triglycerides. Electromyogram findings were consistent with myopathic compromise. The genetic study for dystrophinopathies revealed the existence of a deletion in the dystrophin gene. Further lab findings identified high glycerol concentrations both in blood and in urine that were compatible with a glycerol kinase deficiency. The genetic study confirmed the existence of a deletion in Xp21 of the genes responsible for DMD, the glycerol kinase deficiency, the congenital adrenal hypoplasia (gene DAX1) and mental retardation (gene IL1RAPL1). CONCLUSIONS: In infants and small children with myopathic compromise, increased levels of creatine phosphokinase and pseudohypertriglyceridaemia it is essential to take into account contiguous gene deletion syndrome in Xp21 to be able to prevent and treat the metabolic complications arising from adrenal hypoplasia.

[Analysis of a series of 55 patients with biopsy proven giant cell temporal arteritis]. / Análisis de una serie de 55 pacientes con arteritis de células gigantes confirmada por biopsia.

INTRODUCTION: Our main aim with this study is to establish the epidemiologic and clinical features, treatment response and complications of a group composed of 55 patients with biopsy proven temporal arteritis in a local hospital. MATERIAL AND METHODS: Retrospective study based on clinical records revision of patients diagnosed of giant cell arteritis (GCA) made by temporal artery biopsy between 1989 and 2001. RESULTS: The approximated annual incidence of GCA in our area is 4.1 cases per 100,000 persons over the age of 50. The mean age at diagnostic was 74 years and the 78,2% were women. The most common symptom at diagnostic was headache (81.5%) followed by systemic manifestations (74.1%) and later we found jaw claudication (32,7%), visual impairment (30.2%), isquemic manifestations (17%). Polymyalgia rheumatica was associated to GCA in 49.1% of cases. The temporal artery explorations was abnormal in the 76.9% of patients. The mean initial dose of corticoids was 69 mg prednisone per day, with a half dose reduction time of .5 months. In spite of that, 24,1% of patients relapsed during the first year. The 38% of patients did some complications during the corticosteroid treatment. The ESR was lower 50 mm in 12.7% of patients; it was anaemia in the 37.7% and thrombocytosis in 32,1%. In these last patients we detected a relation between thrombocytosis and specific visual impairment. CONCLUSIONS: The incidence of GCA in our area is low. The results of our series aren't different from others publicated before in clinical manifestations, there is a prevalence of female sex and there is a relation between specific visual impairment and the presence of thrombocytosis.

Análisis de una serie de 55 pacientes con arteritis de células gigantes confirmada por biopsia / Analysis of a serie of 55 patients with biopsy proven giant cell temporal arteritis

Introducción: Descripción de las características epidemiológicas, clínicas, respuesta al tratamiento y complicaciones de una serie de 55 pacientes con arteritis de células gigantes(ACG) confirmada por biopsia en un hospital comarcal. Material y métodos: Estudio retrospectivo de los pacientes diagnosticados de ACG por biopsia de arteria temporal en el periodo comprendido entre 1989 y 2001 en nuestro centro. Resultados: La incidencia anual aproximada calculada en nuestra área sería de 4,1 casos por 100.000 habitantes mayor de 50 años. La edad media al diagnóstico fue de 74 años y un 78,2 por ciento eran mujeres. El síntoma más frecuente al diagnóstico fue la cefalea (81,5 por ciento), seguido de las manifestaciones sistémicas (74,1 por ciento), a más distancia se encontraba la claudicación mandibular (32,7 por ciento), trastornos visuales (30,2 por ciento), manifestaciones isquémicas (17 por ciento). La polimialgia reumática se asoció a ACG en el 49,1 por ciento. La palpación de arteria temporal fue anormal en el 76,9 por ciento de los pacientes. La dosis media de inicio de tratamiento fue de 69 mg prednisona /dia, con una media de tiempo de reducción a mitad de dosis fue de 3,5 meses. Un 24,1 por ciento de los pacientes presentaron un rebrote durante el primer año. Un 38 por ciento de los pacientes presentaron complicaciones durante el tratamiento corticoideo. La VSG fue inferior a 50 mm en el 12,7 por ciento de los pacientes, existía anemia en el 37,7 por ciento y trombocitosis en el 32,1 por ciento. En estos últimos se detectó una tendencia a la relación con presencia de alteraciones visuales específicas. Conclusiones: La incidencia de ACG en nuestra área estaría dentro de las zonas de baja incidencia. Los resultados de nuestra serie no difieren de otras descritas previamente en la literatura en cuanto a las manifestaciones clínicas de los pacientes, existe un claro predominio del sexo femenino y se detecta una tendencia a la relación de alteraciones visuales específicas con presencia de trombocitosis (AU)

[Impact of biomedical publications on the incorporation of new therapeutic attitudes in cardiovascular pathology]. / Impacto de las publicaciones biomédicas en la incorporación de nuevas actitudes terapéuticas en patología cardiovascular.

OBJECTIVE: To evaluate the application degree of results from three clinical trials on cardiovascular pathology in clinical practice: SOLVD trial (in patients with congestive heart failure), SAVE trial (in patients with acute myocardial infarction) and SPINAF trial (in patients with chronic atrial fibrillation). DESIGN: Retrospective cross-sectional study performed in the first six months in 1990 and 1992 (SOLVD trial) and in the first six months in 1991 and 1993 (SAVE trial) admitted to the Consorci Hospitalari del Parc Taulí, and a cross-sectional study in a single randomized sample of all patients with the discharge diagnosis of atrial fibrillation at Hospital Vall d'Hebron during 1994. An absolute increase of 23% and 19% in the prescription of ACEI agents was observed for patients with heart failure and myocardial infarction, respectively. Forty-eight percent of patients with atrial fibrillation received antithrombotic therapy, which included aspirin and acenocoumarine for 51% and 49% of cases, respectively.