Screening for late-onset Pompe disease in Internal Medicine departments in Spain.

BACKGROUND: The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease, mostly in Neurology departments. The aim of the study was to determine the prevalence of late-onset Pompe disease (LOPD) among patients not previously diagnosed or tested for this entity despite presenting possible signs or symptoms of the disease in Internal Medicine departments in Spain. METHODS: This epidemiological, observational, cross-sectional, multicenter study included a single cohort of individuals with clinical suspicion of LOPD seen at Internal Medicine departments in Spain. The diagnosis of LOPD was initially established on the basis of the result of DBS. If decreased enzyme acid-alpha-1,4-glucosidase (GAA) activity was detected in DBS, additional confirmatory diagnostic measurements were conducted, including GAA activity in lymphocytes, fibroblasts, or muscle and/or genetic testing. RESULTS: The diagnosis of LOPD was confirmed in 2 out of 322 patients (0.6%). Reasons for suspecting LOPD diagnosis were polymyositis or any type of myopathy of unknown etiology (in one patient), and asymptomatic or pauci-symptomatic hyperCKemia (in the other). The time between symptom onset and LOPD diagnosis was 2.0 and 0.0 years. Both patients were asymptomatic, with no muscle weakness. Additionally, 19.7% of the non-LOPD cases received an alternative diagnosis. CONCLUSIONS: Our study highlights the existence of a hidden population of LOPD patients in Internal Medicine departments who might benefit from early diagnosis and early initiation of potential treatments.

Environmental evaluation of fluoride in drinking water at "Los Altos de Jalisco," in the central Mexico region.

Naturally occurring fluoride has been detected and quantified in drinking water in several cities of the "Los Altos de Jalisco" (LAJ) region. LAJ is located in the northeastern part of the state of Jalisco-Mexico, covering an area of 16,410 km2 with a population of 696,318 in 20 municipalities. Drinking water comes mainly from groundwater aquifers, located in the Trans-Mexican Volcanic Belt, which is a volcanic region characterized by hydrothermal activity. Results indicated that water supply from 42% of the municipalities had a fluoride concentration over the Mexican standards of 1.5 mg/L. It is important to notice that there are three cities, Lagos de Moreno (1.66-5.88 mg/L F(-)), Teocaltiche (3.82-18.58 mg/L F(-)), and Encarnación de Díaz (2.58-4.40 mg/L F(-)) where all water samples resulted in fluoride concentration over the maximum contaminant level. The total population from these three cities is over 122,000 inhabitants. Another important city with high levels of fluoride in the water supply was Tepatitlán de Morelos (2 wells with 6.54 and 13.47 mg/L F(-)). In addition to water supply, 30 samples of brand-name bottled water were tested. Surprisingly, 8 samples (27%) demonstrated fluoride level over the standards, mainly Agua de Lagos with 5.27 mg/L. Fluoridated table salt (200-300 mg/kg F(-)) is another important source of fluoride. A large number of people living in the region, mainly school children, might be under adverse health risk because they are consuming contaminated drinking water. It is well known that long-term exposure to water with high levels of fluoride produces severe health problems.