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Gul H.L.,BDGH | Lau S.Y.M.,NGH | Chan-Lam D.,Barnsley Hospital | Ng J.-P.,BDGH
BMJ Case Reports | Year: 2014

Primary polycythaemia, also known as polycythaemia vera (PV), is a myeloproliferative neoplasm (MPN) which is associated with arterial and venous thrombosis and which can contribute to significant morbidity and mortality if untreated. Arterial thrombosis accounts for a large proportion of PV-related thrombotic events which may manifest as stroke and myocardial infarction. There is an abundance of literature documenting thrombosis arising in the cerebral vasculature secondary to PV. However, vertebral artery thrombosis associated with PV has not been previously described. We present a case of vertebral artery thrombosis as the presenting manifestation of PV. This case demonstrates the importance of recognising MPNs as a cause of an unusual presentation of thrombosis. Copyright 2014 BMJ Publishing Group. All rights reserved.


Smith C.M.,Barnsley Hospital | Wright N.P.,Sheffield Childrens Hospital | Wales J.K.H.,Sheffield Childrens Hospital | MacKenzie C.,Sheffield Childrens Hospital | And 3 more authors.
Clinical Endocrinology | Year: 2011

Context Increasing numbers of very low birth weight (VLBW) infants are surviving into adulthood because of improvements in neonatal intensive care. Adverse events in early life can have long-term effects through reprogramming of metabolic systems. Objective To determine whether young adult VLBW survivors have abnormalities of skeletal development or endocrine function. Design Cross-sectional, observational, case-control study. Participants Thirty-seven VLBW subjects and 27 healthy controls at peak bone mass (mean age 23). Measurements Differences between cases and controls in body size, body composition, bone mass and bone geometry [assessed by dual-energy X-ray absorptiometry (DXA), hip structure analysis and peripheral quantitative computed tomography (pQCT)], bone turnover [urine N-terminal telopeptide of type I collagen (NTX), serum C-terminal telopeptide of type I collagen (CTX)], aminoterminal propeptide of type I procollagen (PINP) and bone alkaline phosphatase), hormones (sex steroids, IGF-1, PTH and 25-OH vitamin D) and insulin sensitivity (HOMA-IR and oral glucose tolerance testing). Results VLBW subjects had lower bone density at the lumbar spine (5.7%) and femoral neck (8.6%), which persisted after correction for bone size by the estimation of volumetric density (bone mineral apparent density). Urine NTX was higher in VLBW subjects than in controls, but there were no significant differences in other bone turnover markers. VLBW survivors had lower insulin sensitivity (mean INS-30 controls = 57.0, VLBW subjects = 94.3, P < 0.01), but there were no differences in whole body fat mass or truncal fat mass between VLBW subjects and controls. Conclusions Young adult VLBW survivors have reduced bone density for their bone size and reduced insulin sensitivity, which may have significant implications for their risk of fracture and diabetes in later life. © 2011 Blackwell Publishing Ltd.


Thistleton S.,Barnsley Hospital | Grandidge L.,Northern General Hospital | Sharlala H.,Barnsley Hospital | Adebajo A.,Barnsley Hospital
BMJ Case Reports | Year: 2014

A 42-year-old woman presented with a 2-day history of drowsiness, confusion, worsening headache, high fevers, urticarial rash, bilateral leg pains and urinary retention. Preceding this was a 1-month history of headache unresponsive to various analgesics for which her general practitioner started carbamazepine. Suspected central nervous system infection was investigated and treated with cefotaxime. A full septic screen, lumbar puncture and MRI of the spine were all inconclusive. After 3 days, the patient deteriorated and repeated blood tests-initially unremarkable-revealed neutropaenia and acutely deranged liver function. Connective tissue disorder was considered due to a negative septic screen and lack of response to antibiotics, but autoimmune screens failed to reveal a culprit. At this point, carbamazepine was suspected and stopped, after which the patient and her blood results recovered dramatically. This adds to previous reports of known reactions to carbamazepine and reinforces recommendations that patients should be made aware of potential complications of this drug. Copyright © 2014 BMJ Publishing Group.


Hemaya S.A.K.,Barnsley Hospital | Locker T.E.,Barnsley Hospital
Emergency Medicine Journal | Year: 2012

Background Information regarding waiting times has been shown to be a key determinant of patient satisfaction. This study aimed to examine the potential accuracy of predicted waiting times determined on the patient's arrival in the Emergency Department (ED). Methods A retrospective study of 50 000 consecutive patients attending a single ED was undertaken. A linear regression model was developed to predict waiting times, assessing a number of different measures derived from the waiting times of patients seen immediately prior to an individual patient's time of arrival. To assess the fit of the model, the mean absolute difference between the patient's actual and predicted waiting times was determined. Results 6726 patients had incomplete data and were excluded from the analysis. The mean waiting time across all streams was 64.6 (SD 43.7) min. The best performing linear regression model used two variables to predict a patient's waiting time, calculated across the entire sample of patients. This model predicted 27% of the variability in waiting time. The mean absolute difference between actual and predicted waiting times across all streams was 29.0 (SD 23.5) min. The mean absolute difference in waiting times was similar across the streams. Conclusions There is a considerable difference between predicted and actual waiting times using this method. Further investigation is required to determine whether such a degree of inaccuracy is acceptable to patients and improves satisfaction more than the provision of no information regarding waiting times.


Kilarski L.L.,St Georges, University of London | Rutten-Jacobs L.C.A.,University of Cambridge | Bevan S.,University of Cambridge | Baker R.,University College London | And 99 more authors.
PLoS ONE | Year: 2015

Background and Purpose Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopa-thy (CADASIL), caused by mutations in the NOTCH3 gene, is the most common monogenic disorder causing lacunar stroke and cerebral small vessel disease (SVD). Fabry disease (FD) due to mutations in the GLA gene has been suggested as an underdiagnosed cause of stroke, and one feature is SVD. Previous studies reported varying prevalence of CADASIL and FD in stroke, likely due to varying subtypes studied; no studies have looked at a large cohort of younger onset SVD. We determined the prevalence in a well-defined, MRI-verified cohort of apparently sporadic patients with lacunar infarct. Methods Caucasian patients with lacunar infarction, aged <70 years (mean age 56.7 (SD8.6)), were recruited from 72 specialist stroke centres throughout the UK as part of the Young Lacunar Stroke DNA Resource. Patients with a previously confirmed monogenic cause of stroke were excluded. All MRI's and clinical histories were reviewed centrally. Screening was performed for NOTCH3 and GLA mutations. Results Of 994 subjects five had pathogenic NOTCH3 mutations (R169C, R207C, R587C, C1222G and C323S) all resulting in loss or gain of a cysteine in the NOTCH3 protein. All five patients had confluent leukoaraiosis (Fazekas grade >2). CADASIL prevalence overall was 0.5% (95% CI 0.2%-1.1 %) and among cases with confluent leukoaraiosis 1.5% (95% CI 0.6%-3.3%). No classic pathogenic FD mutations were found; one patient had a missense mutation (R118C), associated with late-onset FD. Conclusion CADASIL cases are rare and only detected in SVD patients with confluent leukoaraiosis. No definite FD cases were detected. © 2015 Kilarski et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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