2019

Coeliac disease (2019)

Posted on by

Type of publication:
Journal article

Author(s):
*Butterworth J.; *Los L.

Citation:
Medicine (United Kingdom); 2019; vol. 47, no. 5, p. 314-319

Abstract:
Coeliac disease (CD) is a common, chronic, immune-mediated small bowel enteropathy resulting from gluten exposure in genetically susceptible individuals. Considerable clinical and immunopathological heterogeneity is seen in newly diagnosed patients, and the diagnosis is not always straightforward even for experienced physicians. Population screening using tissue transglutaminase 2 has revealed a higher prevalence of seropositivity than previously appreciated. There is a wide differential diagnosis for mucosal villous atrophy, crypt hyperplasia and increased intraepithelial lymphocyte concentrations. Life-long adherence to a gluten-free diet is currently the only recommended treatment for CD, although many newer approaches are being explored. CD is rightly described as a multisystem disorder and is associated with other gastrointestinal and non-gastrointestinal related disorders, numerous complications and possibly reduced survival. The landscape has recently expanded with the identification that some patients with symptoms suggestive of CD but without the mucosal changes seem to respond to a gluten-free diet. This group of patients are currently labelled as having non-coeliac gluten sensitivity. Controversy exists over whether this is a separate disease entity. This review briefly discusses the important clinical, immunological and therapeutic aspects of CD.

Ketoacidosis in patients on SGLT2 inhibitor: Experience from a district general hospital (2019)

Posted on by

Type of publication:
Conference abstract

Author(s):
*Kandaswamy L.; *Al-Salihi A.; *Singh P.K.; *Rangan S.; *Moulik P.K.

Citation:
Diabetic Medicine; Mar 2019; vol. 36 ; p. 174

Abstract:
Introduction: European Medicines Agency recognised diabetic ketoacidosis (DKA) as a rare and serious side effect of SGLT2 inhibitors (SGLT-2i). In six months, five cases of DKA in Type 2 diabetes on SGLT-2i were diagnosed at Royal Shrewsbury hospital. Case reports: Case 1: A 63 year old lady on metformin, dapagloflozin, gliclazide with HbA1c-102mmol/mol presented with nausea, vomiting and breathlessness was treated for DKA and pneumonia with pH 7.24, blood sugar-16mmol/l, bicarbonate-17 and ketones-3.6. Case 2: A 61 year old lady on liraglutide, gliclazide, canagliflozin with HbA1c 98mmol/mol presented with nausea, vomiting and polyuria had pH 6.9, blood sugar-16.4mmol/l, bicarbonate-<3 and ketones-5.4. Cases 3, 4 and 5: Patients established on insulin treatment with compliance issues (significantly reducing and missing insulin) had DKA. One of them had associated infection.
Discussion(s): Infection predisposed to DKA in two patients. Two patients had long duration of diabetes and poorly controlled glucose on maximum oral therapy indicating reduced beta cell reserve and three were already on insulin but reduced or missed the doses. All patients were treated according to DKA protocol and made full recovery, SGLT2i was stopped and insulin commenced in two of them and continued with others. Sick day rules emphasised.
Conclusion(s): SGLT2i lowers plasma glucose through glycosuria and promotes ketogenesis. Declining beta cell reserve with increasing duration of diabetes and relative insulin deficiency at the time of stress increases the risk of DKA. Patients on SGLT-2I should be educated of these risks particularly when they have a long duration of diabetes and are established in insulin therapy.

Link to full-text [NHS OpenAthens account required]

Variable clinical presentations of renal cyst and diabetes (RCAD) syndrome in two patients (2019)

Posted on by

Type of publication:
Conference abstract

Author(s):
*Al-Salihi A.; *Kandaswamy L.; *Qamar S.; *Rangan S.; *Moulik P.; *Singh P.K.

Citation:
Diabetic Medicine; Mar 2019; vol. 36 ; p. 86

Abstract:
Maturity onset diabetes of the young Type 5 (MODY 5), known as RCAD syndrome, results from mutations in the hepatocyte nuclear factor 1-beta (HNF1B), most commonly 17q12 deletion. We present two patients with this syndrome: Patient 1: A 31 year old male presented with symptomatic hyperglycaemia. He was diagnosed with diabetes three months previously and had been treated with a sulphonylurea. His past medical history included deranged liver function tests (LFT), azoospermia and a single functioning dysplastic kidney. He had a family history of diabetes in first-degree relatives. Genetic tests confirmed HNF1B heterozygous whole gene deletion. Patient 2: A 34 year old male with diabetes diagnosed two years previously was referred for his
complex medical background. He had a history of renal problems (renal agenesis on right and cysts on left), gout and deranged LFT. His glycaemic control was adequate on Linagliptin monotherapy. Despite the absence of relevant family history, he has been referred for genetic testing.
Discussion(s): RCAD syndrome comprises 2% of all cases of MODY and features renal cysts and diabetes alongside a spectrum of other conditions such as renal dysplasia/hypoplasia/agenesis, reproductive tract anomalies, psychiatric problems, deranged LFTs and other metabolic abnormalities in various combinations. Genetic mutations can be inherited or sporadic. Absence of family history and variability in clinical manifestations can lead to delayed recognition.
Conclusion(s): Patients with RCAD syndrome can present with a varied combination of clinical features. Clinical suspicion, irrespective of family history, is key to diagnosis and management.

Link to full-text

A 5-year follow-up of vulval swelling due to extraskeletal myxoid chondrosarcoma: A rare case report (2019)

Posted on by

Type of publication:
Journal article

Author(s):
O'Neill D.; El-Ghobashy A.; Elghobashy M.; Abdelsalam H.; *Metelko M.

Citation:
Molecular and Clinical Oncology; May 2019; vol. 10 (no. 5); p. 483-486

Abstract:
Vulval extraskeletal myxoid chondrosarcoma (EMC) is a rare cause of vulval swelling, reported <10 times in the literature to date. EMC in this location is frequently misdiagnosed due to its rarity, and patients may incur delays in diagnosis and treatment. We herein present the diagnosis and management of the case of vulval EMC in a 42-year-old Caucasian female patient who presented in 2011 with a swelling on the right labium majus. The tumour was initially misdiagnosed as a Bartholin's cyst and managed conservatively. The tumour was ultimately diagnosed as EMC and treated by radical surgical excision and adjuvant radiotherapy. The aim of the present study was to report the results after a long-terms follow-up period and review the available relevant literature.

Link to full-text [NHS OpenAthens account required]

A Randomized Trial of Progesterone in Women with Bleeding in Early Pregnancy (2019)

Posted on by

Type of publication:
Randomised controlled trial

Author(s):
A. Coomarasamy, A.J. Devall, V. Cheed, H. Harb, L.J. Middleton, I.D. Gallos, H. Williams, A.K. Eapen, T. Roberts, C.C. Ogwulu, I. Goranitis, J.P. Daniels, A. Ahmed, R. Bender‑Atik, K. Bhatia, C. Bottomley, J. Brewin, M. Choudhary, F. Crosfill, S. Deb, W.C. Duncan, A. Ewer, K. Hinshaw, T. Holland, F. Izzat, J. Johns, K. Kriedt, M.-A. Lumsden, P. Manda, J.E. Norman, N. Nunes, C.E. Overton, S. Quenby, S. Rao, J. Ross, A. Shahid, *M. Underwood , N. Vaithilingam, L. Watkins, C. Wykes, A. Horne, and D. Jurkovic

Citation:
New England Journal of Medicine 2019;380:p.1815-24.

Abstract:
BACKGROUND
Bleeding in early pregnancy is strongly associated with pregnancy loss. Progesterone is essential for the maintenance of pregnancy. Several small trials have suggested that progesterone therapy may improve pregnancy outcomes in women who have bleeding in early pregnancy.
METHODS
We conducted a multicenter, randomized, double-blind, placebo-controlled trial to evaluate progesterone, as compared with placebo, in women with vaginal bleeding in early pregnancy. Women were randomly assigned to receive vaginal suppositories containing either 400 mg of progesterone or matching placebo twice daily, from the time at which they presented with bleeding through 16 weeks of gestation. The primary outcome was the birth of a live-born baby after at least 34 weeks of gestation. The primary analysis was performed in all participants for whom data on the primary outcome were available. A sensitivity analysis of the primary outcome that included all the participants was performed with the use of multiple imputation to account for missing data.
RESULTS
A total of 4153 women, recruited at 48 hospitals in the United Kingdom, were randomly assigned to receive progesterone (2079 women) or placebo (2074 women). The percentage of women with available data for the primary outcome was 97% (4038 of 4153 women). The incidence of live births after at least 34 weeks of gestation was 75% (1513 of 2025 women) in the progesterone group and 72% (1459 of 2013 women) in the placebo group (relative rate, 1.03; 95% confidence interval [CI], 1.00 to 1.07; P=0.08). The sensitivity analysis, in which missing primary outcome data were imputed, resulted in a similar finding (relative rate, 1.03; 95% CI, 1.00 to 1.07; P=0.08). The incidence of adverse events did not differ significantly between the groups.
CONCLUSIONS
Among women with bleeding in early pregnancy, progesterone therapy administered during the first trimester did not result in a significantly higher incidence of live births than placebo. (Funded by the United Kingdom National Institute for Health Research Health Technology Assessment program; PRISM Current Controlled Trials number, ISRCTN14163439.)

Altmetrics

Pre-transplant Nurse Led Education Clinic (2019)

Posted on by

Type of publication:
Poster presentation

Author(s):
*Dean S, *Rogers C, *Chand S

Citation:
Joint British Transplant Society and NHS Blood and Transplant Annual Congress 6th – 8th March 2019, Harrogate Convention Centre

Abstract:
Introduction: Locally, there is a 40% pre-emptive renal transplant listing rate, between 2013-2016; and 22% for living donor pre-emptive 2014-2017. Thus we needed to revise our processes. After returning from the tertiary transplant centre, patient feedback including their shock of what was required and their follow-up arrangements, and they felt under-prepared from their local education.
Methods: By creating a separate renal pre-transplant education clinic, we aim to improve the education and experience of potential recipients and donors in order to improve or transplantation rates. This clinic was started in August 2016. It was also important to rationalise the time of the single transplant nurse more effectively.
Results: The nurse was able to stop time wasted travelling between individual consultant clinics, catching patients in an adhoc manner, and time wasted travelling between hospital sites. There was an increase of 20% over a 18 months period of patients transplant listed. Patients feedback has been qualitatively positive after their tertiary centre assessments, with noone reporting feeling under-prepared or shocked from the information and requirements if transplanted. Discussion: The nurse led clinic has been successful and we would like to share this model with other units. Other surprising benefits have included patients being better prepared for their transplantation clinic assessment at the tertiary assessment. Potential living donor assessments and any initial investigations have been identified and performed in a more timely manner. The clinic has also allowed to unmask and address unmet psychological and social needs prior to being assessed for transplantation and thus reducing the psychological burden post-transplantation.