Because There Are No Deaf Disney Princesses

a short story about a teenage girl who is jealous of her younger siste

Like a Prisoner: Stories of Endurance (Trans. J. Hodgson), Fatos Lubonja (2022)

Review of: Like a Prisoner: Stories of Endurance (Trans. J. Hodgson), Fatos Lubonja (2022) London: Istros Books, 180 pp., ISBN 978-1-91254-585-8, p/bk, £9.9

Strain differentiation of prion disease in white-tailed deer and cattle

Prion diseases are a group of transmissible and fatal neurodegenerative diseases. Also known as transmissible spongiform encephalopathies (TSEs), prion diseases are associated with the host’s cellular prion protein (PrPC) misfolding into an infectious form (PrPSc). The prion protein is unique, as PrPSc can transmit from one host to another and cause disease. Many species are affected by prion diseases, including sheep with scrapie, cattle with bovine spongiform encephalopathy (BSE), cervids with chronic wasting disease (CWD), as well as humans with Creutzfeldt-Jakob disease, Kuru, Fatal Familial Insomnia, and Gerstmann-Straussler-Scheinker disease. Within these species, different strains of prion disease are thought to be encoded by different PrPSc conformations. Strains of prion disease are defined by disease phenotype, which may include disease pathogenesis, PrPSc distribution, molecular characteristics, biochemical nature, and biological properties. In the studies that make up this dissertation, we utilized strain differentiation techniques in order to characterize and categorize novel prion diseases in white-tailed deer (WTD) and cattle. The strain differentiation techniques used to compare disease phenotype include: disease pathogenesis (via experimental incubation period), PrPSc distribution (via immunohistochemistry), molecular characteristics (western blot), biochemical nature (PrPSc conformational stability), and biological properties (mouse bioassay). Our work demonstrated that a novel strain of prion disease was produced following interspecies transmission of classical sheep scrapie to white-tailed deer (WTD scrapie). Upon first passage of classical sheep scrapie in white-tailed deer, molecular differences were observed in the brainstem and cerebrum. Therefore, we oronasally inoculated region-specific WTD scrapie agents (brainstem and cerebrum) into separate groups of white-tailed deer. Upon second passage, we differentiated WTD scrapie from chronic wasting disease by the former’s PrPSc distribution (intraneuronal accumulation of PrPSc in the retinal ganglion cells), biological properties (longer survival period in cervidized transgenic mice), and biochemical nature (lower conformational stability of the misfolded prion protein). We further differentiated WTD scrapie into substrains due to the persistence of different molecular characteristics upon second passage in white-tailed deer. These substrains are termed region-specific WTD scrapie from brainstem (WTD scrapie rs-b) and region-specific WTD scrapie from cerebrum (WTD scrapie rs-c). While the PrPSc of WTD scrapie rs-b has similar N-terminal immunoreactivity compared to CWD, white-tailed deer with WTD scrapie rs-c do not. Additionally, we reported the novel presence of low-type BSE in a polymorphic (EK) bovine following intracranial inoculation. In this steer, a heritable polymorphism in the prion protein gene resulted in the replacement of glutamic acid with lysine at codon 211 of the prion protein (E211K). The EK steer with low-type BSE had a disease pathogenesis similar to wildtype (EE) low-type BSE (shorter experimental incubation period). Further, the lab-generated EK low-type BSE isolate had similar PrPSc distribution (cerebellar cortex and retinal ganglion cells), molecular characteristics (diglycosylation of PrPSc), and biological properties (shorter survival period in TgBov and K211 transgenic mice) to wildtype low-type BSE. Overall, the research presented in this dissertation provides insight into the propagation of novel prion diseases in white-tailed deer and cattle. In white-tailed deer, we define the substrains of WTD scrapie upon second passage (WTD scrapie rs-b and WTD scrapie rs-c). In both cases, the disease phenotype produced by WTD scrapie is different from CWD in white-tailed deer. Additionally, our examination of an EK steer with low-type BSE concurs with previous studies which state that the strain of BSE has a greater effect than the host genotype on disease phenotype. Together, this dissertation expands our understanding of the intersection of TSE strain, disease phenotype, and host genotype in relevant host models of prion disease

When I get home: a collection of short stories and accompanying critical commentary

The collection of stories When I Get Home explores the loss of home and the effects of war and persecution on migrants and refugees, as well as children's capacity for cruelty and one's own potential for violence. The short stories blend elements of the modem lyric story, horror, metafiction, travel narrative and more fragmented postmodern forms. In the critical commentary I situate the collection within contemporary short fiction and short story theory, drawing on the theory of the modem lyrical story by Eileen Baldeshwiler as well as theories of postmodern short fiction. While critical theory tends to prefer the experimental story over the traditional, I argue that the postmodern form is not necessarily more progressive than traditional forms. Instead, I contend that each story produces its own politics in the act of writing. I broach the ethics of voice appropriation when writing about characters from different ethnic backgrounds and ask how an ethical practice might be possible. I relate my representation of the home to the cultural and literary debates around women's writing and the domestic, and defend the domestic as an important literary starting point. I contest the ongoing separation of the private and public spheres in the cultural evaluation of women's writing by demonstrating how I have placed the home at the centre of my stories about war and persecution. I situate my approach within war literature and analyse how the home is represented in war fiction by men and women writers. I consider how memory and imagination have played a complex role in my stories about childhood. I analyse the gap between the speaking, narrating self and the seeing, narrated childhood self in the story and argue that this gap is used by short story writers to interrogate the practice of writing the self. Finally, I take into consideration the form of the short story collection and contend that stories should be read in relation to other stories in a collection and not as single texts. Throughout the commentary I emphasise the process of writing and drafting of the stories rather than focusing on the finished text, and in so doing, I demonstrate that when writing there is no preconceived ideology between form and content; politics is written anew with each story

I'm Having Sex and I Will Die : Twelve Steps to (Nearly) Overcoming Purity Trauma

In this personal essay, I explore the impact of purity trauma, particularly looking at the impact of shame, fear of retribution and punishment on sexual development in the context of the teachings of Jehovah's Witnesses

'So That's the Tale':A sequence of vignettes on caring and chronic illness

‘Disability isn’t about being brave, it’s about being organised’ (Ian Dury, cited in Reach disability awareness leaflet, Chorley, 2013). This sequence of vignettes explores a family’s experiences of living with multiple sclerosis. The stories are fictionalized, but drawn from my own family, and are part of a wider project exploring varying roles in caring and disability and the relational identities between carers, those cared for and others around them. In my writing, I use the short story to explore the smaller moments in characters’ lives, eschewing longer narratives in order to avoid common disability tropes, such as heroism, bravery and stories, that foreground characters overcoming their disability. Instead, my vignettes aim to reveal both the challenges and difficulties when living with chronic illness, but also moments of hope and humour

Mapping Alternative Impact: Alternative approaches to impact from co-produced research

No abstract available

Loss‐of‐function mutations in the <i>ALPL </i>gene presenting with adult onset osteoporosis and low serum concentrations of total alkaline phosphatase

Hypophosphatasia (HPP) is a rare inherited disorder characterized by rickets and low circulating concentrations of total alkaline phosphatase (ALP) caused by mutations in ALPL. Severe HPP presents in childhood but milder forms can present in adulthood. The prevalence and clinical features of adult HPP are poorly defined. The aim of this study was to evaluate the prevalence and clinical significance of low serum total alkaline phosphatase (ALP) levels in a clinic‐based population of adult osteoporotic patients. We searched for patients with low ALP in a cohort of 3285 patients referred to an osteoporosis clinic over a 10‐year period and performed mutation screening of ALPL in those with low ALP (≤40 U/L) on two or more occasions. These individuals were matched with four clinic controls with a normal ALP. We also evaluated the prevalence of low ALP and ALPL mutations in 639 individuals from the general population from the same region. We identified 16/3285 (0.49%) clinic patients with low ALP and 14 (87.5%) had potentially pathogenic variants in ALPL. Eight of these individuals were heterozygous for mutations previously described in HPP and 2 were heterozygous for novel mutations (p.Arg301Trp and p.Tyr101X). These mutations were not found in clinic controls or in the general population. Eight patients with low ALP, including 4 with ALPL mutations, were treated with bisphosphonates for an average of 6.5 years. In these individuals, the rate of fractures during treatment was comparable to that in normal ALP clinic controls who were treated with bisphosphonates. We conclude that heterozygous loss‐of‐function mutations in ALPL are common in osteoporosis patients with low ALP. Further studies are required to determine how best these individuals should be treated. © 2019 The Authors. Journal of Bone and Mineral Research published by American Society for Bone and Mineral Research