Bryony Jones
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View article: P051 A case of psoriasis and undifferentiated connective tissue disease mimicking amyopathic dermatomyositis
P051 A case of psoriasis and undifferentiated connective tissue disease mimicking amyopathic dermatomyositis Open
Introduction Dermatomyositis is a rare autoimmune muscle disease that presents commonly in the fourth decade with symmetrical proximal muscle weakness and findings of Göttron’s papules, Göttron’s sign or heliotrope rash. Variants such as c…
View article: P052 A case of unilateral myositis associated with radiculopathy, mimicking inflammatory myositis
P052 A case of unilateral myositis associated with radiculopathy, mimicking inflammatory myositis Open
Introduction Inflammatory myopathic conditions are rare autoimmune diseases that usually present with clinical features of muscle weakness, with or without dermatological findings. Initial investigations include biochemical and immunologic…
View article: P082 Beyond the ANA: a case highlighting the role of myositis-specific antibodies in autoimmune myopathy
P082 Beyond the ANA: a case highlighting the role of myositis-specific antibodies in autoimmune myopathy Open
Introduction A 47-year-old woman presented with progressive arthralgia, Raynaud’s phenomenon, intermittent skin erythema, and myalgia, but lacked clinical synovitis. Despite negative ANA and normal CK and ALT, clinical signs including Gott…
View article: Dual biologic therapy for the treatment of rheumatic diseases and asthma: a case series
Dual biologic therapy for the treatment of rheumatic diseases and asthma: a case series Open
Objective Combination biological therapies are being considered increasingly for patients with multiple co-morbidities requiring biologics. There are limited data available on this approach, and concerns remain about the possible risk of a…
View article: O-193 Reproductive outcomes in women with Borderline Ovarian Tumours. Does fertility treatment increase the risk of disease recurrence?
O-193 Reproductive outcomes in women with Borderline Ovarian Tumours. Does fertility treatment increase the risk of disease recurrence? Open
Study question Does fertility treatment (FT) increase the risk of recurrence of Borderline Ovarian Tumours (BOTs)? Summary answer There is a significant association between recurrence of BOTs and exposure to FT (p = 0.025). What is known a…
View article: Experiences and perceptions of educators implementing AAC in inclusive settings : a thesis presented in partial fulfilment of the requirements for the degree of Master of Speech Language Therapy at Massey University, Albany, New Zealand
Experiences and perceptions of educators implementing AAC in inclusive settings : a thesis presented in partial fulfilment of the requirements for the degree of Master of Speech Language Therapy at Massey University, Albany, New Zealand Open
Research shows that augmentative and alternative communication (AAC) can support the inclusion of students with complex communication needs (CCN) in inclusive school settings. AAC support for students in New Zealand is provided by a multid…
View article: World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection
World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection Open
View article: <i>In Vitro</i>Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Different Molecular Routes to Increased Lactase Promoter Activity and Lactase Persistence
<i>In Vitro</i>Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Different Molecular Routes to Increased Lactase Promoter Activity and Lactase Persistence Open
The genetic trait that allows intestinal lactase to persist into adulthood in some 35% of humans worldwide operates at the level of transcription, the effect being caused by cis-acting nucleotide changes upstream of the lactase gene (LCT).…
View article: Symbionts — in it for the long run
Symbionts — in it for the long run Open
View article: Linking TF binding to disease risk using pooled ChIP–seq
Linking TF binding to disease risk using pooled ChIP–seq Open
View article: One founding population, or two?
One founding population, or two? Open
View article: Disorder — from chromatin to limb development
Disorder — from chromatin to limb development Open
View article: Diversity of lactase persistence in African milk drinkers
Diversity of lactase persistence in African milk drinkers Open
View article: Sequencing for tailored melanoma immunotherapy
Sequencing for tailored melanoma immunotherapy Open
View article: Layers of gene regulation
Layers of gene regulation Open
View article: Autism sibling differences
Autism sibling differences Open