The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017.

This is the second report of the United Kingdom Primary Immunodeficiency (UKPID) registry. The registry will be a decade old in 2018 and, as of August 2017, had recruited 4758 patients encompassing 97% of immunology centres within the United Kingdom. This represents a doubling of recruitment into the registry since we reported on 2229 patients included in our first report of 2013.

A Stepwise Approach to Laparoscopic Enucleation and Excision of Retroperitoneal Cysts.

Study Objective: To show a step-by-step approach to laparoscopic enucleation and excision of retroperitoneal cysts using a technical video.

Design: A technical video (Canadian Task Force classification III).

Setting: A benign gynecology department at a university hospital.

Bladder cancer: overview and disease management. Part 1: non-muscle-invasive bladder cancer.

Part 1 of this two-part article provides an overview of bladder cancer and discusses its management. Since publication of a previous article entitled 'Understanding the role of smoking in the aetiology of bladder cancer' ( Anderson, 2009 ), the author has received many requests for an update. This article provides an overview of bladder cancer and its current management practices, underlining the continued role of smoking as the predominant risk factor in the disease's development.

Dosimetry-based treatment for Graves' disease.

Objective: The aim of this retrospective study was to assess the long-term outcome of a personalized dosimetry approach in Graves' disease aiming to render patients euthyroid from a planned thyroid absorbed dose of 60 Gy.

Patients And Methods: A total of 284 patients with Graves' disease were followed prospectively following administration of radioiodine calculated to deliver an absorbed dose of 60 Gy. Patients with cardiac disease were excluded.

A mesh masquerading as malignancy: a cancer misdiagnosed.

After a positive faecal occult blood test, a 60-year-old woman underwent a screening colonoscopy which identified a malignant-looking ulcer in the ascending colon. Biopsies from the lesion were inconclusive. A subsequent CT scan of the abdomen and pelvis commented on a polypoid lesion in the ascending colon.

SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal.

Association between insulin resistance and preeclampsia in obese non-diabetic women receiving metformin.

Objectives: To examine whether the reduced incidence of preeclampsia in non-diabetic obese pregnant women treated with metformin is mediated by changes in insulin resistance.

Methods: This was a secondary analysis of obese pregnant women in a randomised trial (MOP trial). Fasting plasma glucose and insulin were measured in 384 of the 400 women who participated in the MOP trial.

Mental disorders and drug/alcohol use in patients commencing extensively drug-resistant tuberculosis treatment.

Mental disorders and alcohol/drug use worsen treatment outcomes for multidrug-resistant tuberculosis (TB), but data are lacking for extensively drug-resistant (XDR) TB. We investigated the association of baseline mental disorders and alcohol/drug use on XDR-TB treatment outcomes in a retrospective study of 53 XDR-TB Peruvian patients during 2010-2012. Logistic regression estimated the odds ratios for unfavourable XDR-TB treatment outcomes.

Effect of body mass index on the incidence of perineal trauma.

Objective: To investigate the association between perineal trauma at childbirth and maternal body mass index (BMI), and estimate the risk of perineal trauma among different BMI groups.

Methods: Data were retrospectively assessed from all vaginal deliveries in a UK tertiary maternity unit between 1999 and 2014. Associations between BMI at booking and first- and second-degree tears (minor perineal trauma), third- and fourth-degree tears (obstetric anal sphincter injuries [OASIS]), and frequency of instrumental deliveries were assessed.

Gestational diabetes-Predictors of response to treatment and obstetric outcome.

Objective: Evaluate patient characteristics that are predictors of treatment response and outcomes in gestational diabetes STUDY DESIGN: Retrospective cohort of 265 women with gestational diabetes treated with diet/metformin and/or insulin in a single centre over 2 years.

Results: Multinomial logistic regression showed that (after adjusting for age and ethnicity) women who were of normal weight were more likely to be on diet and women who were obese were more likely to be on metformin or metformin and insulin(p=0.014).

Early Results of the ARPE Arthroplasty Versus Trapeziectomy for the Treatment of Thumb Carpometacarpal Joint Osteoarthritis.

Background: Thumb carpometacarpal joint arthroplasty for osteoarthritis may hold advantages over trapeziectomy by preserving range of motion, whilst providing stability and preventing thumb shortening.

Methods: We compare functional and satisfaction outcomes scores, radiological shortening and complication rates between patients treated with trapeziectomy and those receiving the ARPE thumb CMCJ arthroplasty.

Results: Seventy-five trapeziectomies and one hundred and ten ARPE arthroplasties were performed over the study period.

Long-Term Improvements in Chronic Axial Low Back Pain Patients Without Previous Spinal Surgery: A Cohort Analysis of 10-kHz High-Frequency Spinal Cord Stimulation over 36 Months.

Objective: This prospective, open-label study was designed to evaluate the long-term effectiveness of 10-kHz high-frequency spinal cord stimulation (SCS) in the treatment of chronic axial low back pain with no history of spinal surgery.

Methods: Patients with chronic low back pain without previous spinal surgery underwent assessment by a multidisciplinary pain and surgical team to confirm eligibility. After a successful temporary trial of 10-kHz HF-SCS therapy, defined by ≥50% back pain reduction, enrolled subjects underwent permanent system implantation and were followed up for 36 months.

An insight into the patient's response to a diagnosis of urological cancer.

A cancer diagnosis and the patient's response to the news pertains to all types of cancer, however, in this article, the focus is on urological cancer. Intrinsic to the management of this patient group is the urology multidisciplinary team, in which the role of the cancer nurse specialist (CNS) is pivotal. For most people, a cancer diagnosis is arguably their worst fear.

A single centre case series of gallstone sigmoid ileus management.

Aims/introduction: Gallstone sigmoid ileus is a rare condition that presents with symptoms of large bowel obstruction secondary to a gallstone impacted within the sigmoid colon. This arises because of three primary factors: cholelithiasis causing a cholecystoenteric fistula; a gallstone large enough to obstruct the bowel lumen; and narrowing of the bowel. We describe 3 patients treated in a district general hospital over a 3-year period, and discuss their management.

Platelet rich plasma as a minimally invasive approach to uterine prolapse.

Pelvic organ prolapse (POP) is a major health problem that affects many women with potentially severe physical and psychological impact as well as impact on their daily activities, and quality of life. Several surgical techniques have been proposed for the treatment of POP. The FDA has published documents that refer to concerns about the use of synthetic meshes for the treatment of prolapse, in view of the severe complications that may occur.

Speech and communication in Parkinson's disease: a cross-sectional exploratory study in the UK.

Objective: To assess associations between cognitive status, intelligibility, acoustics and functional communication in PD.

Design: Cross-sectional exploratory study of functional communication, including a within-participants experimental design for listener assessment.

Setting: A major academic medical centre in the East of England, UK.

Renal Effects of SGLT-2 Inhibitors and Other Anti-diabetic Drugs: Clinical Relevance and Potential Risks.

Type 2 diabetes mellitus (T2DM) is a metabolic disease affecting an increasing percentage of general population worldwide. Patients with T2DM are frequently characterized by impaired renal function, primarily as a result of diabetic kidney injury, but also by other contributing factors, such as hypertension, atherosclerosis, and medications. Sodium-glucose cotransporter (SGLT)-2 inhibitors have emerged as a new, promising class of antidiabetic agents with actions that seem to extend beyond their hypoglycemic effect.

The Effect of Sodium-Glucose Co-transporter-2 (SGLT-2) Inhibitors on Cardiometabolic Profile; Beyond the Hypoglycaemic Action.

Type 2 diabetes mellitus (T2DM) has growing prevalence worldwide and major clinical implications, chiefly cardiovascular (CV) and renal disease burden. Sodium-glucose co-transporter (SGLT)-2 inhibitors are a new drug class in the management of T2DM with a mechanism of action independent of insulin. In addition to their hypoglycaemic effect, SGLT-2 inhibitors appear to have haemodynamic and nephroprotective effects.

Chronic fatigue syndrome and the immune system: Where are we now?

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is characterised by multiple symptoms including fatigue, headaches and cognitive impairment, which have a significantly adverse effect on the normal functioning and well-being of the individual. These symptoms are often triggered or worsened following physical or mental exertion. ME/CFS has long been thought of as having a significant immunological component, but reports describing changes in immune function are often inconsistent between study groups.

Seronegative Coeliac Disease in Children: A Case Report and Review of the Literature.

Serology is frequently used for the diagnosis of coeliac disease in children; however, a small proportion of children are seronegative. We present a case of seronegative coeliac disease along with literature review to include diagnostic and management dilemmas.

A risk scoring system to predict coronary stent thrombosis.

Objective: Stent thrombosis (ST) is a potentially life-threatening complication of percutaneous coronary intervention (PCI). We aimed to develop a scoring system to predict the risk of ST following PCI.

Research Design And Methods: Odds ratios (ORs) for risk factors associated with ST were identified from a meta-analysis based on a systematic literature review, and through consensus expert opinion (Delphi-RAND method).