Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders

Fabry’s Disease (FD) is a rare X-linked inherited disorder of glycosphingolipid metabolism due to absent or deficient activity of α-galactosidase A (GLA) enzyme that can present with multisystemic involvement, including painful small fiber neuropathy. Dysferlinopathy is a heterogeneous spectrum of neuromuscular disorders inherited in an autosomal recessive manner. In this report, we present a case of co-occurrence of these two rare genetic disorder

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

Physiotherapy and patients with osteogenesis imperfecta: an experience report

Introduction: Individuals with osteogenesis imperfecta (OI) have bone fragility and osteopenia which cause fractures, mobility restriction and pain. Objective: This article examines a physiotherapy experience with people diagnosed with OI in an OI reference center of Rio de Janeiro. Materials and methods: This was an exploratory qualitative study, based on field notes related to physiotherapy care to 92 patients of both genders with clinical diagnoses of OI, aged between 30 days and 37 years old, during the period 20042008. The analysis comprised a reading of the field notes as a corpus, considering them as a means of understanding the subjects perspectives. Two different forms of codification were applied open and focused followed by semiotic analysis techniques. Results: Early encouragement to perform active movements within a safe environment, or even after fractures, reduced articular contractures and enhanced muscular tonus; physiotherapy manipulation facilitated the integration of body perception in relation to movements and responses to tactilekinesthetic-vestibular stimuli; promoting family involvement, by adopting practical solutions adapted to each patients reality, contributed to reduce fear of fractures and allowed the construction of a new functional image. Conclusion: Physiotherapy assessment and treatment should be based not only on clinical and neurofunctional elements and technical strategies, but also on a dialogue that includes the multiple dimensions of the patients and their family members, in order to engage them in a learning process to stimulate potentials, abilities and competences

Segmental Uniparental Isodisomy of Chromosome 6 Causing Transient Diabetes Mellitus and Merosin-Deficient Congenital Muscular Dystrophy

Made available in DSpace on 2015-05-15T13:16:39Z (GMT). No. of bitstreams: 2 license.txt: 1914 bytes, checksum: 7d48279ffeed55da8dfe2f8e81f3b81f (MD5) fernando_vargas2etal_IOC_2014.pdf: 721211 bytes, checksum: ff4a44c041b1eb983e9c064c3471879d (MD5) Previous issue date: 2014Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil.Universidad Autónoma de Madrid. INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ-CIBERER. Madrid, Spain.Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil / Universidade UnigranRio. Programa de Internato em Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Serviço Neuropediátrico. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Escola de Medicina. Departamento de Patologia. Rio de Janeiro, RJ, Brasil.Universidad Autónoma de Madrid. INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ-CIBERER. Madrid, Spain.Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.Segmental uniparental isodisomy (iUPD) is a rare genetic event that may cause aberrant expression of imprinted genes, and reduction to homozygosity of a recessive mutation. Transient neonatal diabetes mellitus (TNDM) is typically caused by imprinting aberrations in chromosome 6q24 TNDMdifferentiallymethylated region (DMR). Approximately, 15.12Mb upstream in 6q22-q23 is located LAMA2, the gene responsible of merosindeficient congenital muscular dystrophy type 1A (MDC1A).We investigated a patient diagnosed both with TNDMand MDC1A, born from a twin dichorionic discordant pregnancy. Parents are first-degree cousins. Methylation sensitive-PCR of the imprinted 6q24 TNDM CpG island showed only the non-methylated (paternal) allele. Microsatellite markers and SNP array profiling disclosed normal biparental inheritance at 6p and a segmental paternal iUPD, between 6q22.33 and 6q27. Sequencing of LAMA2 exons showed a homozygous frameshift mutation, c.7490_7493dupAAGA, which predicts p.Asp2498GlufsX4, in exon 54. Her father, but not her mother, was a carrier of the mutation. While segmental paternal iUPD6 causing TNDM was reported twice, there are no previous reports of MDC1A caused by this event. This is a child with two genetic disorders, yet neither is caused by the parental consanguinity, which reinforces the importance of considering different etiological mechanisms in the genetic clinic

Physiotherapy and patients with osteogenesis imperfecta: an experience report

Introduction Individuals with osteogenesis imperfecta (OI) have bone fragility and osteopenia which cause fractures, mobility restriction and pain. Objective This article examines a physiotherapy experience with people diagnosed with OI in an OI reference center of Rio de Janeiro. Materials and methods This was an exploratory qualitative study, based on field notes related to physiotherapy care to 92 patients of both genders with clinical diagnoses of OI, aged between 30 days and 37 years old, during the period 2004–2008. The analysis comprised a reading of the field notes as a corpus, considering them as a means of understanding the subjects’ perspectives. Two different forms of codification were applied — open and focused — followed by semiotic analysis techniques. Results Early encouragement to perform active movements within a safe environment, or even after fractures, reduced articular contractures and enhanced muscular tonus; physiotherapy manipulation facilitated the integration of body perception in relation to movements and responses to tactile-kinesthetic-vestibular stimuli; promoting family involvement, by adopting practical solutions adapted to each patient’s reality, contributed to reduce fear of fractures and allowed the construction of a new functional image. Conclusion Physiotherapy assessment and treatment should be based not only on clinical and neurofunctional elements and technical strategies, but also on a dialogue that includes the multiple dimensions of the patients and their family members, in order to engage them in a learning process to stimulate potentials, abilities and competences

Núcleos de Ensino da Unesp: artigos 2010: volume 4: as disciplinas escolares, os temas transversais e o processo de educação

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP