[Clinical presentation, diagnosis, and long-term outcome of 29 patients with Wilson's disease]. / Presentación clínica, diagnóstico y evolución a largo plazo en 29 pacientes con enfermedad de Wilson.

OBJECTIVE: To analyze the clinical characteristics, treatment, and follow-up of a cohort of 29 patients with Wilson's disease (WD) within the region of Murcia. PATIENTS AND METHOD: We reviewed the medical records of 29 cases of WD (mean age, 20.3 +/- 13.4 years) diagnosed during the last 16 years. RESULTS: The most frequent reason for consultation was upon discovering a high transaminase level in almost half the patients, followed by tremors or dystonia in 17% of patients, respectively. A Kayser-Fleischer ring was observed in 17/29 (58.6%) of patients (100% of patients with pure neurological involvement and 35% of patients with pure clinical hepatic disease; p < 0.001). Blood copper levels not associated with ceruloplasmin as well as cupruria were notably superior in patients with neurological symptoms and in those with liver cirrhosis at the time of diagnosis. Patient clinical symptoms remained stable with D-penicillamine or trientine, or improved during the observation period, for 18 out of 29 patients (62%), while 11 out of 29 patients (38%) got worse. CONCLUSIONS: In our region patients with WD are diagnosed at a younger age, and in most cases for hepatic disease. Patients with neurological disease or liver cirrhosis had a high level of free copper not associated to ceruloplasmin and cupruria. The disease had a favorable evolution in all patients but those diagnosed with hepatic disease or advanced neurological disease.

Strontium levels in different causes of death: diagnostic efficacy in drowning.

Trace element determination can be applied in forensic medicine to diagnose the cause of death. Drowning is the second leading cause of death from unintentional injury. Despite the many diagnostic methods used, the post-mortem diagnosis of drowning continues to be one of the most difficult in forensic pathology. Strontium is a highly sensitive marker of water aspiration in a liquid medium rich in this metal. The aims of this study were to confirm the diagnostic value of strontium in cases of drowning compared with other causes of death, to analyse factors that could affect its concentration and to ascertain the sensitivity and specificity of strontium in right and left ventricles and peripheral serum for the post-mortem diagnosis of drowning. We studied 120 cadavers selected from medico-legal autopsies with different causes of death. Strontium (Sr) levels were measured in the serum (left and right ventricles and peripheral vein) of all cadavers and, in the case of drowning, in the water medium itself, by using Zeeman AAS. Our results confirm the usefulness of blood Sr levels for diagnosing seawater and freshwater drowning, although great care should be exercised in the latter case.