Sarah Stewart

Genome sequencing identifies monogenic causes in adults with metabolic diseases

Volkan Okur, Amanda Halstrom, John N. Falcone, Maurice A. Hurd et autres

Context: A subset of metabolic diseases is caused by rare monogenic variants. Next-generation sequencing offers a promising approach for identifying such variants, but its application in clinical diagnostics for metabolic disease is limited and the diagnostic yield is unknown. Objective: To determine …

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Evaluation of Nicotinamide Riboside in Prevention of Small Nerve Fiber Axon Degeneration and Promotion of Nerve Regeneration

Simone Thomas, Remi Ben‐Davies, Aysel Cetinkaya‐Fisgin, Xindan Hu et autres

ABSTRACT Background and Aims Recent preclinical studies have shown that nicotinamide adenine dinucleotide (NAD + ) plays a critical role in molecular mechanisms of axon degeneration, and reductions in NAD + levels are associated with axonal degeneration. Nicotinamide riboside (NR) is a …

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P589: Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders

Volkan Okur, Sowmya Thirumalai Srinivasa, Amanda Halstrom, John N. Falcone et autres

A subset of multifactorial endocrine and metabolic disorders may be caused by rare monogenic disorders. However, next generation sequencing technologies are not widely used in the clinical diagnostic setting to identify monogenic causes of such multifactorial disorders. Hence, their diagnostic yield is …

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Genetic and Metabolic Determinants of Lipoprotein(a)

Sarah Stewart, Oleksandr Savenkov, Maurice A. Hurd, Amanda Halstrom et autres

Investigation of heterocellular features of the mouse retinal neurovascular unit by 3D electron microscopy

Mona J. Albargothy, Nadhira N. Azizah, Sarah Stewart, Evan P. Troendle et autres

The retina has a complex structure with a diverse collection of component cells that work together to facilitate vision. The retinal capillaries supplying the nutritional requirements to the inner retina have an intricate system of neural, glial and vascular elements that interconnect …

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Vitamin B6 levels do not correlate with severity of neuropathy in chronic idiopathic axonal polyneuropathy

Sarah Stewart, Simone Thomas, Erol Höke, David M. Simpson et autres

Pyridoxine (vitamin B6) toxicity is known to cause a length-dependent, sensory predominant axonal polyneuropathy. There is debate regarding the threshold at which intake levels can cause neurological symptoms through pyridoxine toxicity. We asked if elevated plasma vitamin B6 levels were related to …

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Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy

Michael Binder, Ricardo H. Roda, Andrea M. Corse, Sunjeet Sidhu et autres

OBJECTIVE: Mitochondrial DNA mutations are associated with an increased risk of heart disease. Whether an increased prevalence of cardiovascular disease is present in patients presenting with mitochondrial abnormalities on skeletal muscle biopsy remains unknown. This study was designed to determine the prevalence …

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Relation of exercise and pain in patients with idiopathic distal axonal polyneuropathies

Sarah Stewart, Simone Thomas, Perry Tc van Doormaal, Ahmet Höke

Although exercise is associated with better outcomes in patients with some peripheral neuropathies, data in idiopathic peripheral neuropathies is lacking. This study was completed to do a comprehensive data analysis about the benefits of regular exercise in a well-characterized cohort of patients …

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Transvaginal Saline Contrast Sonohystography to Investigate Postmenopausal Bleeding: A Systematic Review

Farshad Tahmasebi, Sarah Stewart, Anita Mitra, Mridula Morje et autres

Transvaginal ultrasound (TVUS) is the initial investigation of choice for postmenopausal bleeding (PMB), followed by diagnostic hysteroscopy and endometrial sampling if abnormalities are detected. Saline contrast sonohysterography (SCSH) - injection of saline through the cervix into the uterine cavity prior to TVUS …

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Outcome of patients with solid tumors admitted to intensive care units.

Melissa Phillips, Sukaina Rashid, Miriam Hopkins, Anasofia Pericao et autres

e18701 Background: Intensive care units (ICU) are increasingly managing cancer patients (pts) with life-threatening disease and treatment-related complications. 5% of cancer pts require ICU admission in the early phase of their disease. We sought to determine the outcome of solid tumor (ST) …

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Outcome of patients with solid tumours admitted to intensive care

Sarah Stewart, Miriam Hopwood, Rowan Miller, Ana Pericao et autres

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Factors Associated with Reduced Perceived Access to Physiotherapy Services among People with Low Back Disorders

Brenna Bath, Megan Jakubowski, Darren R. Mazzei, Jessica McRae et autres

Purpose: To explore which socio-demographic, clinical, and other factors are associated with reduced perceived access to physiotherapy among people with low back disorders. Methods: A cross-sectional study design was used to evaluate perceived access to physiotherapy services in a convenience sample of …

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