21 years of Wiskott-Aldrich syndrome in Spain: incidence, mortality, and gender bias.

BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder considered to predominantly affect males. OBJECTIVE: This study aims to investigate the incidence and intrahospital death associated with WAS in Spain as well as the gender bias. METHODS: A population-based retrospective epidemiological study of 97 WAS patients that were diagnosed in Spanish hospitals between 1997 and 2017 was conducted by using data from the National Surveillance System for Hospital Data. RESULTS: Our results revealed that the mean annual incidence of WAS in Spain was 1.1 per 10,000,000 inhabitants (IC95% 0,45-2,33). The relative risk was higher in male than female (2.42). WAS diagnosis occurs at later ages in women (median age of 47 years) compared to men (median age of 5.5 years). Only male were admitted to the hospital at least in 10 different occasions and all deaths were detected in men. The intra-hospital death rate was of 9.28% in WAS, being most of the deaths associated with brain hemorrhage or infection. CONCLUSIONS: WAS, a rare disease, is diagnoses at later ages in women and the mortality was found in males mostly associated with brain hemorrhage and infection.

[The risk factors associated with colonization and bacteremia in non-tunnelled central venous catheters]. / Factores de riesgo asociados a colonización y bacteriemia en catéteres venosos centrales no tunelizados.

OBJECTIVE: To identify risk factors for colonization and bacteremia among patients with non-tunnelled central venous catheters. MATERIALS AND METHODS: A prospective study was conducted of a cohort of patients carrying non-tunnelled central venous catheters. Different parameters were obtained and the degree of its association with colonization of the distal portion of the catheter or with bacteremia associated with colonization was estimated. The CDC (centers for Disease Control) diagnostic criteria of colonization and catheter-related bacteremia were used. RESULTS: A total of 118 catheters were eventually analyzed, corresponding to 114 patients, with a catheterization mean time of 14 +/- 8 days (mean +/- SD); out of these 114 patients, 51 were colonized and in 22 the presence of associated bacteremia was confirmed. The parameters associated with a higher risk for catheter colonization included length of colonization, femoral location, number of lumina and a vital prognosis lower than one month. All these factors, with the exception of the increase in the number of lumina, showed an independent association with colonization on the multivariate analysis [catheterization length (in weeks): OR 1.46; 95% CI: 1.0-2.11; femoral location: OR 3.73; 95% CI: 1.16-11.9; vital prognosis lower than one month: OR 12.7; 95% CI: 1.4-112.7]. As for risk for catheter-related bacteremia, the univariate analysis showed an association with catheterization length and a vital prognosis lower than one month; the latter was the only factor that maintained an independent association in the multivariate analysis (OR 5.75; 95% CI: 1.17-28.27). CONCLUSION: The present study documents the relevance of prolonged catheterization as a consistent risk for colonization of non-tunnelled central venous catheters. This risk increases independently in canalization at femoral site and particularly among severely ill patients. The presence of these factors allows the identification of a high risk population for the development of catheter related bacteremia.

[Multiple sclerosis or Lyme disease? a diagnosis problem of exclusion]. / Esclerosis múltiple o enfermedad de Lyme? Un problema diagnóstico de exclusión.

There is no diagnostic biological marker in multiple sclerosis. Thus, its diagnosis is based on clinical criteria. These criteria can also be found in other conditions. Lyme disease is currently among them. In a late period of the disease demyelinating involvement of central nervous system can develop, and multiple sclerosis can be erroneously diagnosed. We have evaluated a series of 55 patients with a definite diagnosis of multiple sclerosis, and we have found evidence of infection by the causative organism of Lyme disease in three. We describe the three patients and we discuss the relationship between both conditions. We conclude that it is important to consider Lyme disease as a diagnostic possibility in patients with neurological disease of unknown etiology such as multiple sclerosis.