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        313-324 of 439 results for 'Rare disease'

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        Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflows

        Systematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase ...

        Research

        Intellectual disability and autism prevalence in Western Australia: impact of the NDIS

        Estimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability. ...

        Research

        Genome-Wide Analysis of Genetic Risk Factors for Rheumatic Heart Disease in Aboriginal Australians Provides Support for Pathogenic Molecular Mimicry

        Rheumatic heart disease (RHD) after group A streptococcus (GAS) infections is heritable and prevalent in Indigenous populations. Molecular mimicry between human and GAS proteins triggers proinflammatory cardiac valve-reactive T cells. ...

        Research

        Comparing Web-Based Mindfulness With Loving-Kindness and Compassion Training for Promoting Well-Being in Pregnancy: Protocol for a Three-Arm Pilot Randomized Controlled Trial

        Promoting psychological well-being and preventing distress among pregnant women is an important public health goal. In addition to adversely impacting the mother's health and well-being, psychological distress in pregnancy increases the risk of poor pregnancy outcomes, compromises infant socioemotional development and bonding, and heightens maternal and child vulnerability in the postpartum period. Mindfulness and compassion-based interventions show potential for prevention and early intervention for perinatal distress. ...

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        Evaluation of age-dependent treatment strategies for children and young adults with pineoblastoma: Analysis of pooled European Society for Paediatric Oncology (SIOP-E) and US Head Start data

        Pineoblastoma is a rare pineal region brain tumor. Treatment strategies have reflected those for other malignant embryonal brain tumors. ...

        Research

        Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling

        Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adult ...

        Research

        Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

        A conditional analysis provided evidence for multiple associations within the HLA-DRB1-HLA-DQA1 region,and a model in which risk differed between three... ...

        Research

        Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

        To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2... ...

        Research

        Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formation

        The regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation ...

        Research

        Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconate

        These results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment ...

        Research

        The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis

        These findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU... ...

        Research

        Meningiomas in children and adolescents: a meta-analysis of individual patient data

        The epidemiological, prognostic, and therapeutic features of child and adolescent meningioma are poorly defined... ...

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