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Summary: Objective: We conducted a pilot screening program to define the prevalence of non-syndromic deafness and establish the frequency of mutations in the GJB2 gene (Cx26) in a population of children with congenital deafness in Bogotá, Colombia. Method: From a cohort of 731 children in 8 institutions for the deaf, we identified 322 (44%) with presumed non-syndromic deafness. These were invited to a more detailed evaluation, but 46 chose not to participate. The remaining 276 individuals received a complete ophthalmological evaluation that was normal in 205 (74.3%) and showed salt and pepper retinopathy in 55 (19.9%) and other ocular abnormalities in 16 (5.8%). A comprehensive medical history, and a detailed physical examination were performed in the 205 children with normal ocular exam. Of these, 93 were found to have acquired deafness and/or associated anomalies and 112 (15.3% of the initial 731 children), non-syndromic deafness. The GJB2 gene was sequenced in these 112 individuals. Results: Based on family history, 59.8% (67/112) of these cases had autosomal recessive non-syndromic sensorineural hearing loss and the remaining 40.2% (45/112) were sporadic, without apparent known cause. We identified three mutations in the GJB2 gene: 35delG, S199F, and 167delT, all of which have been previously reported in the literature, the variant M34T, and the polymorphism V27I. S199F was the most frequent mutation (17.9%), followed by 35delG (17.0%) and 167delT (0.4%). The mutations in the GJB2 gene were present in 50.7% of the autosomal recessive group and in 33.3% of the sporadic cases. Conclusions: Our pilot study showed that 15.3% of institutionalized deaf children in Bogotá have non-syndromic deafness and among them, the frequency of the S199F mutation was higher than reported in previous studies, whereas the frequency of the 35delG is similar to Caucasian populations. The fact that the S199F mutation was the most frequent allele in our study confirms the fact that the prevalence of GJB2 mutations depends on the ethnic origin. We emphasize the need to follow a strict protocol to identify bona fide cases of non-syndromic deafness among individuals with congenital hearing loss in order to identify the molecular basis of this condition. [Copyright &y& Elsevier]

Access to palliative care is insufficient in many countries around the world. In an effort to improve access to palliative care services and treatments, a public health approach as suggested by the World Health Organization was implemented in Colombia to improve opioid availability, increase awareness and competences about palliative care for healthcare workers, and to include palliative care as a component of care in legislation. As a result, opioid availability has improved, a mandatory palliative care course for medical undergraduate students has been implemented and a palliative care law is being discussed in the Senate. This article describes the strategy, main achievements and suggestions for implementing similar initiatives in developing countries., (© The Author(s) 2011)

Latin America consumes less than 2.7% of the morphine in the world, as reported by the governments to the International Narcotics Control Board. Methods to improve access to opioids for the treatment of pain have been developed by the Pain & Policy Studies Group (PPSG), a World Health Organization Collaborating Center at the University of Wisconsin. This article describes the preparation and implementation of an action plan in Colombia as a part of an international fellowship program on opioid policy developed by the PPSG and funded by the Open Society Institute. The action plan for Colombia included three steps: 1) a survey of regulators and health care providers to identify the current situation and their perceptions of opioid availability in the regions of the country; 2) a workshop with representatives of the Ministry of Health, the national and state competent authorities, pain and palliative care physicians, and international leaders; and 3) implementation workshops at the local level throughout the country. For the survey, response rates of 47% and 96% were registered among physicians and competent authorities, respectively. The survey identified significant regional differences in perceived opioid availability between physicians and regulators. Focus group discussions during the workshop identified several reasons leading to limited availability of opioids in the country, including deficiencies in the procurement process, insufficient human resources, excessive bureaucratic tasks, insufficient number of pharmacies authorized to dispense controlled medications in the country, lack of training in the health care professions, and overly restrictive laws and regulations governing opioid availability. The third step of the action plan has not been implemented. Additional and continuous monitoring needs to be implemented to measure the progress of this project.

A screening program to detect Waardenburg syndrome (WS) conducted between 2002 and 2005, among 1,763 deaf individuals throughout Columbia identified 95 affected individuals belonging to 95 families, giving a frequency of 5.38% of WS among the institutionalized deaf population. We confirmed the clinical diagnosis of WS in the 95 propositi and, through the family evaluation, we also identified 45 non-institutionalized affected relatives. Audiologic, ophthalmologic, and genetic studies were performed to confirm the diagnosis. Following the classification of the WS consortium, based on the Waardenburg Index (WI), to define the type of WS. We classified 62.1% of the propositi as WS2 and 37.9% as WS1. We present here the results of the study of clinical manifestations, analyzing the presence, severity, and symmetry of clinical findings among this affected population. Overall, among the 95 propositi, in addition to sensorineural deafness in all, the most frequent features were broad nasal root (58.9%), a first degree relative affected (37.9%), heterochromia irides (36.8%), skin hypopigmentation (31.6%), white forelock (28.0%), intense blue iris (27.4%), synophrys (12.6%), premature graying (10.5%), ptosis of the eyelids (9.5%), and hypoplasia alae nasi (1.1%). The majority of individuals had normal psychomotor development (87%), while the remaining 13% had developmental delay. Among the latter, 9.4% corresponded to WS2 and 3.6% to WS1. Our data confirm an interesting inter- and intrafamilial variability in the phenotypic manifestations as well as extremely variable expression., (Copyright 2008 Wiley-Liss, Inc.)