Ann Marie Hynes
Newcastle University
EndocrinologyDominance (genetics)CiliopathyMedicineBiology
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Publications 21
#1Katherine J. Rennie (Newcastle University)H-Index: 15
Last. David W. Hamilton (Freeman Hospital)H-Index: 8
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BACKGROUND: Septoplasty (surgery to straighten a deviation in the nasal septum) is a frequently performed operation worldwide, with approximately 250,000 performed annually in the US and 22,000 in the UK. Most septoplasties aim to improve diurnal and nocturnal nasal obstruction. The evidence base for septoplasty clinical effectiveness is hitherto very limited. AIMS: To establish, and inform guidance for, the best management strategy for individuals with nasal obstruction associated with a deviat...
#1Michael ColeH-Index: 26
#2Ann Marie HynesH-Index: 8
Last. Tim CheethamH-Index: 33
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#1Paleri (Newcastle University)H-Index: 1
#2Joanne Patterson (Newcastle University)H-Index: 16
Last. D Stocken (Newcastle University)H-Index: 1
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Background - Approximately 9000 new cases of head and neck squamous cell cancers (HNSCCs) are treated by the NHS each year. Chemoradiation therapy (CRT) is a commonly used treatment for advanced HNSCC. Approximately 90% of patients undergoing CRT require nutritional support via gastrostomy or nasogastric tube feeding. Long-term dysphagia following CRT is a primary concern for patients. The effect of enteral feeding routes on swallowing function is not well understood, and the two feeding methods...
2 CitationsSource
#1Naeem Soomro (Newcastle upon Tyne Hospitals NHS Foundation Trust)H-Index: 17
#2Jan Lecouturier (Newcastle University)H-Index: 14
Last. Michael Aitchison (Royal Free London NHS Foundation Trust)H-Index: 19
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BACKGROUND: There is uncertainty around the appropriate management of small renal tumours. Treatments include partial nephrectomy, ablation and active surveillance. OBJECTIVES: To explore the feasibility of a randomised trial of ablation versus active surveillance. DESIGN: Two-stage feasibility study: stage 1 - clinician survey and co-design work; and stage 2 - randomised feasibility study with qualitative and economic components. METHODS: Stage 1 - survey of radiologists and urologists, and dev...
1 CitationsSource
#1Brendan A. I. Payne (Newcastle University)H-Index: 14
#2Thomas Chadwick (Newcastle University)H-Index: 16
Last. David Price (Newcastle upon Tyne Hospitals NHS Foundation Trust)H-Index: 124
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Objectives The contribution of specific antiretroviral drugs to cognitive function in HIV-infected people remains poorly understood. Efavirenz (EFV) may plausibly cause cognitive impairment. The objective of this study was therefore to determine whether chronic EFV therapy is a modifier of neurocognitive and neurometabolic function in the setting of suppressive highly active antiretroviral therapy. Methods We performed an open-label phase IV controlled trial. Adult subjects who were stable on su...
5 CitationsSource
#1Brendan A. I. PayneH-Index: 14
#2Thomas ChadwickH-Index: 16
Last. Kirstie N. AndersonH-Index: 16
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#1Brendan A. I. PayneH-Index: 14
#2Thomas ChadwickH-Index: 16
Last. Kirstie N. AndersonH-Index: 16
view all 8 authors...
2 CitationsSource
Juvenile ciliopathy syndromes that are associated with renal cysts and premature renal failure are commonly the result of mutations in the gene encoding centrosomal protein CEP290. In addition to centrosomes and the transition zone at the base of the primary cilium, CEP290 also localizes to the nucleus; however, the nuclear function of CEP290 is unknown. Here, we demonstrate that reduction of cellular CEP290 in primary human and mouse kidney cells as well as in zebrafish embryos leads to enhance...
27 CitationsSource
#1Judith A. Sayers (Newcastle University)H-Index: 3
#2Ann Marie Hynes (Newcastle University)H-Index: 8
Last. John A. Sayer (Newcastle University)H-Index: 30
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Mutations in CYP24A1, encoding the vitamin D 24-hydroxlase enzyme, are known to cause a range of clinical phenotypes and presentations including idiopathic infantile hypercalcaemia and adult-onset nephrocalcinosis and nephrolithiasis. In the context of raised or borderline high serum calcium levels, suppressed PTH and persistently elevated 1,25 dihydroxy vitamin D levels, this rare condition should be considered. We present a case where this biochemical pattern was seen and mutations in CYP24A1 ...
18 CitationsSource
#1Emma K Montgomery (Freeman Hospital)H-Index: 1
#2John A. Sayer (Freeman Hospital)H-Index: 30
Last. Edgar A. Otto (UM: University of Michigan)H-Index: 55
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Background Imerslund-Grasbeck Syndrome (IGS) is a rare autosomal recessive disease characterized by intestinal vitamin B12 malabsorption. Clinical features include megaloblastic anemia, recurrent infections, failure to thrive, and proteinuria. Recessive mutations in cubilin (CUBN) and in amnionless (AMN) have been shown to cause IGS. To date, there are only about 300 cases described worldwide with only 37 different mutations found in CUBN and 30 different in the AMN gene.
3 CitationsSource