RESUMO
Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants.
Assuntos
Glaucoma , Mutação , Linhagem , Fenótipo , Humanos , Feminino , Mutação/genética , Masculino , México/epidemiologia , Glaucoma/genética , Glaucoma/patologia , Glaucoma/congênito , Criança , Pré-Escolar , Lactente , Predisposição Genética para Doença , Estudos de Associação Genética , Análise Mutacional de DNA , Estudos de CoortesRESUMO
BACKGROUND: The semi-arid environments harbor nearly 40% of biodiversity, and half of indigenous cultures of Mexico. Thousands of communities settled in these areas depend on agriculture and using wild biodiversity for their subsistence. Water, soil, and biodiversity management strategies are therefore crucial for people's life. The tajos, from Sierra Gorda, are important, poorly studied, biocultural systems established in narrow, arid alluvial valleys. The systems are constructed with stone-walls for capturing sediments, gradually creating fertile soils in terraces suitable for agriculture in places where it would not be possible. We analyzed biocultural, ecological, economic and technological relevance of the artificial oasis-like tajos, hypothesizing their high capacity for maintaining agricultural and wild biodiversity while providing resources to people. METHODS: We conducted our research in three sections of the Mezquital-Xichú River, in three communities of Guanajuato, Mexico. Agroforestry management practices were documented through semi-structured and in-depth qualitative interviews. Vegetation composition of local forests and that maintained in tajos was sampled and compared. RESULTS: Tajos harbor high agrobiodiversity, including native varieties of maize and beans, seven secondary crops, 47 native and 25 introduced perennial plant species. Perennial plants cover on average 26.8% of the total surface of plots. Tajos provide nearly 70% of the products required by households' subsistence and are part of their cultural identity. CONCLUSIONS: Tajos are heritage of TEK and land management forms of pre-Columbian Mexican and Mediterranean agricultural techniques, adapting and integrating modern agricultural practices. Tajos are valuable biocultural systems adapted to local semiarid conditions and sources of technology for similar areas of the World.
Assuntos
Agricultura , Biodiversidade , Agricultura Florestal , Conservação dos Recursos Naturais , Ecologia , MéxicoRESUMO
PURPOSE: This clinical study evaluated the effect of microwave disinfection protocols on the occlusal pressure pattern of dentures. MATERIALS AND METHODS: Dentures were constructed for 40 patients and evaluated as follows (n = 20). Group 1: Patients had the maxillary dentures submitted to microwave disinfection, once a week, for 4 weeks. Group 2: Patients had the maxillary dentures submitted to microwave disinfection, three times a week, for 4 weeks. Occlusal contacts were recorded on five occasions: 30 days after denture insertion and before first disinfection (baseline or control group); 1 week after disinfection; 2 weeks after disinfection; 3 weeks after disinfection; 4 weeks after disinfection. Occlusal contacts were analyzed by T-Scan III. Intergroup analysis was performed using the Mann-Whitney test and intragroup analysis using the Friedman test with significance of 5%. RESULTS: The results showed no significant difference between groups during the periods. The data on parameters loss of denture adaptation or complaints showed that patients used their dentures regularly for eating and expressed comfort and satisfaction in all experimental periods. The evaluation of functional occlusion revealed that the distribution of the occlusal contacts remained unaltered after disinfection. CONCLUSION: Microwave disinfection protocols as studied in this report did not influence occlusal contacts of the complete dentures.
Assuntos
Oclusão Dentária , Prótese Total , Desinfecção/métodos , Micro-Ondas/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise do Estresse Dentário , Humanos , Pessoa de Meia-IdadeRESUMO
Transformation of natural ecosystems into intensive agriculture is a main factor causing biodiversity loss worldwide. Agroforestry systems (AFS) may maintain biodiversity, ecosystem benefits and human wellbeing, they have therefore high potential for concealing production and conservation. However, promotion of intensive agriculture and disparagement of TEK endanger their permanence. A high diversity of AFS still exist in the world and their potentialities vary with the socio-ecological contexts. We analysed AFS in tropical, temperate, and arid environments, of the Tehuacan Valley, Mexico, to investigate how their capacity varies to conserve biodiversity and role of TEK influencing differences in those contexts. We hypothesized that biodiversity in AFS is related to that of forests types associated and the vigour of TEK and management. We conducted studies in a matrix of environments and human cultures in the Tehuacán Valley. In addition, we reviewed, systematized and compared information from other regions of Mexico and the world with comparable socio-ecological contexts in order to explore possible general patterns. Our study found from 26 % to nearly 90 % of wild plants species richness conserved in AFS, the decreasing proportion mainly associated to pressures for intensifying agricultural production and abandoning traditional techniques. Native species richness preserved in AFS is influenced by richness existing in the associated forests, but the main driver is how people preserve benefits of components and functions of ecosystems. Elements of modern agricultural production may coexist with traditional management patterns, but imposition of modern models may break possible balances. TEK influences decisions on what and how modern techniques may be advantageous for preserving biodiversity, ecosystem integrity in AFS and people's wellbeing. TEK, agroecology and other sciences may interact for maintaining and improving traditional AFS to increase biodiversity and ecosystem integrity while improving quality of life of people managing the AFS.