Mutational analysis of genes in osteogenesis imperfect patient

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Osteogenesis imperfect (OI) is a group of genetic disorders that mainly affect the bones. The term “ontogenesis imperfecta” means imperfect bone formation. Osteogenesis imperfecta is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. The genetics of the disorder reflect the complexity of the OI phenotype range. Up to 21 different genes have been associated with occurrence of OI.Studies have shown that the primary cause of OI are mutations in the COL1A1/2 genes, which code procollagen type I α1 and α2 chains.

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Systems Integration

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System Integration is characterizes as the joining of various subsystems or components as one substantial system to guarantee the subsystem working. For more Information go through below link : https://www.scitechnol.com/industrial-electronics-applications.phpSystem Intigration

Relevance of Ear Movements in Dog’s Emotional Expressions

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In dog’s mimicry, ears movements are absolutely relevant. Dogs use them like humans using eyebrows: for a better communication. Using the DOGFACS maps,elative to the ears movement classification (EAD, Ears Action Units), we try to connect every EAD to a specific emotion. We consider just the fundamental emotion: fear, surprise, anger, happiness, disgust, sadness.

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Lymphoid interstitial pneumonia in a renal transplant recipient

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Objectives: A case report of lymphoid interstitial pneumonia (LIP) in a renal transplant patient who is immunosuppressed with tacrolimus.

Background: LIP is a rare lymphoproliferative disorder affecting the lungs. It is described in the literature as: diffuse infiltration of the alveolar septa by dense collections of lymphocytes and a mixture of plasma cells and other elements. LIP is associated with several conditions, most of which affect the immune system. The development of this condition following immunosuppression with sirolimus is mentioned in the literature but there are currently no documented cases on the development of LIP following treatment with tacrolimus and to read more

Predictive Factors for Functional Outcome after Conservative Treatment of Midshaft Clavicular Fractures: A Retrospective Cohort Study

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The aim of this study is to identify factors based on radiological characteristics and nature of presenting history, that are predictive in functional outcome at two to nine years follow-up, in patients that were treated conservatively after a midshaft clavicle fracture. There was a significant decrease of 4.3 in DASH scores between the mid-term and long-term follow-up of patients with complete angulation of their fracture (p=0.041) and of 2.6 in DASH of patients who were not involved in a high energetic trauma (p=0.031). With regard to completely angulated clavicular fractures and noninvolvement in a HET, an increase of functional outcome is to be expected from mid- to long-term.

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New Era for Biocomputing

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Fast and cheaper Next Generation Sequencing (NGS) technologies will generate unprecedentedly massive (thousands or even ten thousands of individuals) and highly-dimensional (ten or even dozens of millions) genomic and epigenomic variation data that allow nearly complete evaluation of genomic and epigenomic variation including common and rare variants, insertion/deletion, CNVs, mRNA by sequencing (RNA-seq), microRNA by sequencing (mRNA-seq), methylation by sequencing (methylation-seq) and Chip-seq. Analysis of these extremely big and diverse types of data sets provide powerful tools to comprehensively understand the genome and epigenomes.

Identification of Mutation for Recessive Mucopolysaccharidosis Type VI

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Mucopolysaccharidosis type VI is a rare and severe autosomal recessive disease in humans caused by impaired activity of the lysosomal enzyme hydrolase N-acetylgalactosamine 4-sulfatase or arylsulfatase resulting from mutations in the ARSB gene. The ARSB gene, located on the long arm of chromosome 5 consists of 8 exons spanning less than 440 kb and encoding for a 533-aminoacid polypeptide and a 37-aminoacid signaling peptide. MPS VI can be caused by different types of mutations in the ARSB gene such as deletions, insertions, missense, nonsense, as well as mutations in splicing sites. The prevalence of these mutations is mainly reported in Russia, Australia, USA, France, Germany, Portugal, Italy, China, Brazil, Colombia, Chile, Argentina and Spain. The genealogy analysis suggests a common ancestral allele in the Guambiano Amerindian and a novel mutation for MPS VI.

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