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Port Glasgow, United Kingdom

Duncan A.,Royal Infirmary | Yacoubian C.,Yorkhill Hospital | Watson N.,Royal Infirmary | Morrison I.,Ninewells Hospital
Journal of Clinical Pathology | Year: 2015

Aims In high doses zinc may cause copper deficiency, a diagnosis that is often missed resulting in anaemia, neutropenia and irreversible neurological symptoms. The aim of this study was to assess if zinc deficiency is erroneously diagnosed by misinterpretation of plasma zinc concentrations and whether copper deficiency is induced in patients prescribed zinc. Methods Casenotes of 70 patients prescribed zinc were scrutinised. Plasma concentrations of zinc, copper, C reactive protein and albumin were recorded from the laboratory database. Results 62% of patients were prescribed zinc at doses sufficient to cause copper deficiency. In 48% of the patients, plasma zinc concentrations were low as a probable result of hypoalbuminaemia or the systemic inflammatory response rather than deficiency. Awareness of copper deficiency was lacking; it was only documented as a possible side effect in one patient and plasma copper was measured in only two patients prescribed zinc. 9% of patients developed unexplained anaemia and 7% developed neurological symptoms typical of copper deficiency. Conclusions Zinc deficiency is frequently misdiagnosed on the basis of low plasma zinc concentrations. The potential risk of copper deficiency developing in patients prescribed high doses of zinc is apparently infrequently considered. It is probable that a significant minority of patients prescribed with high doses of zinc develop iatrogenic copper deficiency. Source

Smith B.,Yorkhill Hospital | Thomson J.,Leeds General Infirmary | Crossland D.,Freeman Hospital | Spence M.S.,Royal Victoria Hospital | Morgan G.J.,Evelina London Childrens Hospital
Catheterization and Cardiovascular Interventions | Year: 2014

Background Percutaneous closure of atrial defects (ASD) has evolved as the treatment of choice for the majority of defects and patent oval foramens. The Gore Septal Occluder (GSO) is an innovative device consisting mostly of a folded thin GoreTex tube for use in the closure of septal defects. Methods Reviewed is the multicenter UK experience of the first 22 ASD occlusions with the GSO TM device. All implantations were performed by consultant operators experienced in ASD device closure. The inclusion criterion was the presence of a hemodynamically significant secundum ASD with a diameter of <18 mm. Procedural data and acute and mid-term closure rates were retrospectively matched to a cohort of patients having defect closure using the Amplatzer Septal OccluderTM (ASOTM). Results Acute and 3-month follow-up closure rates for the GSOTM were 100% and 100% vs. 100% and 100% closure with the ASOTM implants. The difference in paired procedure times was not statistically significant (56 min: GSOTM; 42 min: ASOTM device P = ns), nor was the paired difference in fluoroscopic screening times (12 min: GSOTM vs. 8.4 min: ASOTM, P = ns). One GSO device embolized immediately after deployment and was successfully retrieved at the same procedure. There were no other significant complications in either group. Conclusions The GSOTM implant can achieve comparable closure rates to the ASOTM in small to moderate atrial septal defects after 3 months. Longer fluoroscopy and procedure times are a drawback; however these should improve with familiarity with the implant and deployment system. The larger sheath size was not associated with increased complications in our cohort. © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc. Source

Reiner T.,University of Zagreb | Guardamagna O.,University of Turin | Nair D.,Royal Free Hospital NHS Foundation Trust | Soran H.,University of Manchester | And 8 more authors.
Atherosclerosis | Year: 2014

Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age. Children and adults typically present with some combination of dyslipidaemia, hepatomegaly, elevated transaminases, and microvesicular hepatosteatosis on biopsy. Liver damage with progression to fibrosis, cirrhosis and liver failure occurs in a large proportion of patients. Elevated low-density lipoprotein cholesterol levels and decreased high-density lipoprotein cholesterol levels are common features, and cardiovascular disease may manifest as early as childhood. Given that these clinical manifestations are shared with other cardiovascular, liver and metabolic diseases, it is not surprising that LAL-D is under-recognized in clinical practice. This article provides practical guidance to lipidologists, endocrinologists, cardiologists and hepatologists on how to recognize individuals with this life-limiting disease. A diagnostic algorithm is proposed with a view to achieving definitive diagnosis using a recently developed blood test for lysosomal acid lipase. Finally, current management options are reviewed in light of the ongoing development of enzyme replacement therapy with sebelipase alfa (Synageva BioPharma Corp., Lexington, MA, USA), a recombinant human lysosomal acid lipase enzyme. © 2014 The Authors. Source

Piccolo P.,Telethon Institute of Genetics and Medicine | Mithbaokar P.,Telethon Institute of Genetics and Medicine | Sabatino V.,Telethon Institute of Genetics and Medicine | Tolmie J.,Yorkhill Hospital | And 5 more authors.
European Journal of Human Genetics | Year: 2014

Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and deafness. Recurrent missense mutations in SMAD4 encoding for a transducer mediating transforming growth factor β (TGF-β) signaling are responsible for MS. We found that MS fibroblasts showed increased SMAD4 protein levels, impaired matrix deposition, and altered expression of genes encoding matrix metalloproteinases and related inhibitors. Increased TGF-β signaling and progression of aortic root dilation in Marfan syndrome can be prevented by the antihypertensive drug losartan, a TGF-β antagonists and angiotensin-II type 1 receptor blocker. Herein, we showed that losartan normalizes metalloproteinase and related inhibitor transcript levels and corrects the extracellular matrix deposition defect in fibroblasts from MS patients. The results of this study may pave the way toward therapeutic applications of losartan in MS. © 2014 Macmillan Publishers Limited All rights reserved. Source

Russell R.K.,Yorkhill Hospital | Protheroe A.,Clinical Effectiveness and Evaluation Unit CEEU | Roughton M.,Clinical Effectiveness and Evaluation Unit CEEU | Croft N.M.,Blizard Institute | And 11 more authors.
Inflammatory Bowel Diseases | Year: 2013

Background: Pediatric ulcerative colitis (UC) care is variable with a lack of appropriate guidelines to guide practice until recently. Methods: UC inpatients <17 years old admitted to 23 U.K. pediatric hospitals had clinical details collected between September 2010 and 2011. Comparative data for 248 patients were available from a previous audit in 2008. Results: One hundred and seventy-six patients (98 males) of median age 13 years (interquartile range, 10-13) were analyzed; 23 were elective surgical admissions, 47 new diagnoses, and 106 needed acute medical care for established UC. Median length of stay was 6 days (interquartile range, 3-10) with no deaths. Eighty-eight of 126 patients (70%) with active disease had standard stool cultures performed (3 [2%] were positive), and 57 (45%) had Clostridium difficile toxin tested (none positive). Twenty-five of 66 (38%) emergency admissions had an abdominal x-ray on admission, and 13 of 66 patients (20%) had a Pediatric Ulcerative Colitis Activity Index score. There were 3 cases of toxic megacolon and 2 thromboses. Eighty-one of 116 patients (71%) responded to steroids. Nineteen patients who did not respond adequately to steroids received rescue therapy (7 infliximab, 11 ciclosporin, and 1 both) with overall response rate of 90%; 7 patients needed surgery acutely, 5 without previous rescue therapy. Compared with the 2008 data, stool culture rates improved significantly (86 of 121 [71%] versus 76 of 147 [52%], P = 0.001) as did heparinization rates (15 of 150 [10%] versus 5 of 215 [2%], P = 0.002) and rescue therapy usage (17 of 33 [52%] versus 10 of 38 [26%], P = 0.03). Conclusions: There were signs of improving UC care with significantly increased rates of stool culture and rescue therapy. The majority of sites, however, did not use Pediatric Ulcerative Colitis Activity Index scores. Copyright © 2013 Crohn's and Colitis Foundation of America, Inc. Source

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