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Pompe's disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered whenever symptoms onset start after one year of age. We present an update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013. The present consensus gathered several experts in PD in the areas of internal medicine, laboratory diagnosis, neuropathology, pulmonology, nutrition, neurology, metabolic and neuromuscular disorders as well as rehabilitation to perform an update of the literature of delayed-onset PD, with special attention on relevant information published within the last 4 years. The entire working group approved the final version of the consensus. Each participant provided a declaration of conflict of interest. As a result, it is an update of the previous Argentine PD Consensus with focus on the delayed-onset presentation of the disease. Being such infrequent disorder, available data were rather limited and thus, the recommendations represent expert opinions.

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a hereditary disease with variable geographical distribution. The aim of this study was to present our experience with TTR-FAP patients. We retrospectively analyzed nine cases belonging to different families. Diagnostic criteria were based on the combination of compatible clinical picture, histopathological findings and genetic confirmation. Five cases showed the classic presentation and other 4 the late onset variant. The p.Val30Met mutation in the TTR gene was found in 6 cases and p.Ala36Pro, p.Thr60Ala and p.Tyr114Cys in the remaining 3, respectively. The median age of symptom onset was 35 years (26-60 range). Mean time to diagnosis was 4.2 ± 1.5 years. Our patient series showed the heterogeneity in clinical presentation of TTR-FAP in a non-endemic region of South America.

Background: Exposure to Biological Agents during work is an emergent type of occupational risk., Aim: To characterize occupational biological risk exposure among Chilean workers which have been registered by the Toxicology Information Center, between January 2006 and December 2009., Material and Methods: All incoming calls reporting exposure to biological agents during the studied period were analyzed. The information obtained from the caller was registered using the Communication Record Instrument of the WHO International Programme on Chemical Safety (IPCS INTOX)., Results: In the studied period, 77 calls were received. The mean age of exposed patients was 35 ± 15 years and 57% of them were females. The most common involved agents were vaccines for veterinary use (42%) followed by Loxosceles laeta bites in 16%. The main routes of exposure were injections, cuts and needle stick injuries in 39% and stings and bites in 38%. The highest exposure rates were observed in Southern Chile due to self-inoculation of veterinary vaccines used in the salmon industry (22.7/100.000 actual workers). Fifty-eight percent of calls were from health care workers, and 51% of them were from health care facilities. Sixty percent of exposures occurred during summer and spring. There was a fourfold higher risk of calls involving women exposed to bites or stings (odds ratio (OR) 4.5 (CI95 1.5-13.9, p < 0.01). Men had a fourfold higher risk of being exposed to vaccines or medications for veterinary use (OR 4.2, CI95 1.4-12.6 p < 0.01)., Conclusions: Most calls involving an exposure to a biological agent were caused by self-inoculation of veterinary medications.

Background: Paracetamol (acetaminophen) is an analgesic and antipyretic drug widely used across the world. Its ingestion is one of the most common causes of drug overdose. In the United States is the first cause of acute hepatitis in adults., Aim: To describe the epidemiological profile of paracetamol overdose in Chile., Material and Methods: Cross sectional retrospective study that included all the phone call inquiries received at the Poison Control Center of the Pontificia Universidad Catolica de Chile (CITUC) during 2009., Results: Nine hundred fifty nine inquiries involving acute paracetamol exposures were received. Women represented a 63.1% of the cases. Half of the cases were suicide attempts, of which 74.8% were women. Accidental exposures occurred mainly in children. In 29.3% of the patients, the exposure was considered to involve a hepatotoxic dose. Women had 2.7 times the risk of men to ingest a toxic dose of paracetamol with suicidal purpose (Odds ratio (OR) = 2.7; 95% confidence interval (Cl): 2.1-3.6; p < 0.001). Adolescents had 3.4 times the risk of the general consultants (OR: 3.4; 95% Cl: 2.4-4.7; p < 0.001)., Conclusions: Paracetamol overdose is common in Chile. Authorities should carry out preventive measures. Antidotes and the capacity to measure plasma levels of paracetamol should be available in healthcare centers.

In the last decades there has been an important decrease in infant mobidity and mortality, but these achievements are not equally distributed across the whole population. Children are one of the most susceptible groups due to their unique vulnerabilities to environmental factors. Unhealthy environments, indoor pollution, poor drainage, inadequate waste disposal, and many others, are significant environmental risk factors to children. Currently, Chile is experiencing an advanced demographical transition, a situation that requires a precise approach to guarantee that the population has an adequate health status. It is important to take care of children, since their present health status will condition their health as adults. Pediatric Environmental Health Specialty Units are structures specialized in pediatric conditions related to the environment, formed by an interdisciplinary and highly specialized team. These centers provide assistance, information and treatment, promote research, educate health care providers or the public, and report problems to authorities. Health authorities should emphasize the importance of having a safe environment for children and encourage efforts to reduce exposure to environmental hazards promoting healthy behaviors, education and awareness at all levels of society .

Background: Loxoscelism is caused by the bite of spider Loxosceles laeta. It can cause a cutaneous or systemic syndrome., Aim: To determine the epidemiológica! and clinical features of patients bitten by the Chilean recluse spider (Loxosceles laeta)., Material and Methods: All communications received at a telephonic orientation center for intoxications during 2005 were analyzed, selecting those who involved patients with symptoms that suggested loxoscelism (i.e., pain, burning sensation, blue area, hematuria, fever or myalgia). These were derived to the emergency room for confirmation of the diagnosis. Forty-eight hours after the initial communication, patients were contacted by phone to find out about the definitive diagnosis. The variables analyzed were: gender, age, geographical location, time since exposure, part of the body involved, clinical signs and definitive diagnosis., Results: Of 2,831 telephonic consultations with suspected loxoscelism, the diagnosis was confirmed in 287. All of these patients had cutaneous loxoscelism and only 7.3% of them developed visceral loxoscelism. Fifty six percent of patients with loxoscelism presented two or more clinical signs. The most common were a blue area, pain and a burning sensation, in 69%, 58% and 38% of patients, respectively. Fifty-one percent of patients developed signs within the first 12 hours. All patients with visceral syndrome presented with hemoglobinuria. No cases of loxoscelism were registered in areas located southern than the Xth region of Chile. There were no fatalities attributed to loxoscelism., Conclusions: Most cases of loxoscelism of this series were cutaneous. The population must be educated about the clinical signs of spider bite to seek early and adequate medical treatment.

Background: The existence of Poison Centers for management and prevention of intoxications has been endorsed by the international experience. In Chile, the Toxicological Information Center at the Pontifical Catholic University of Chile has been active since 1992, receiving about 130,000 calls until 2002., Aim: To analyze the statistical data gathered throughout the first ten years of our Research Center. To delineate the epidemiological pattern of intoxications in Chile., Material and Methods: Retrospective study in which records from calls for toxicological information received during the 1992-2002 period reviewed. Analyzed data were total calls per year, place of call, exposure circumstances, age, sex, route of exposure and involved agents., Results: 96,468 calls analyzed. The main exposure circumstance was "unintentional" (78.6%), followed by "intentional" (16.9%). Intoxications in children under 5 years old motivated 50% of calls. According to route of exposure, ingestions involved 75,992 calls (78.8%). Medications were the most common substances, accounting for 49.2% of calls, followed by cleaning products (12.1%), pesticides (11.3%), industrial and chemical products (10.5%) and cosmetics (2.7%). Medications acting on the CNS were the most recurrent, with 19,096 reports., Conclusions: The epidemiological pattern for intoxications in Chile is very similar to that reported in developed and other Latin American countries. Children under 5 years old, are a high risk group for intoxications. It is imperative to improve the recording and follow-up of patients that call to the Center, to improve epidemiological data of intoxications in Chile.