Epidemiology of posttransplantation lymphoproliferative disorder in adult renal transplant recipients.

Background: There is little information in the literature describing the relationship between posttransplantation lymphoproliferative disorder (PTLD) incidence and presentation with both recipient Epstein-Barr virus (EBV) serostatus and EBV status of PTLD histology, particularly in the late posttransplantation period.

Methods: This study reports the largest UK single-center, single-organ analysis of PTLD to date in a retrospective cohort study of 80 cases occurring in 4189 adult renal transplant recipients.

Results: The incidence rate was 2.

Metachronous colorectal cancer risk in patients with a moderate family history.

Aim: Lifetime risk of a metachronous colorectal cancer (mCRC) is 0.6-3% following sporadic colorectal cancer (CRC) and 15-26% in Lynch syndrome. The lifetime incidence of CRC in individuals with moderate familial risk is 8-17%.

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.

Objective: A genetic opinion is frequently requested in the assessment of a child with suspected fetal alcohol spectrum disorders (FASD). We studied the outcome of genetic assessment of 80 children referred to a regional genetics centre between 2004 and 2010 to identify the value of the genetic assessment in cases of suspected FASD.

Design: Retrospective case series.

Anti-Mullerian hormone: poor assay reproducibility in a large cohort of subjects suggests sample instability.

Study Question: What is the variability of anti-Müllerian hormone (AMH) concentration in repeat samples from the same individual when using the Gen II assay and how do values compare to Gen I [Diagnostic Systems Ltd (DSL)] assay results?

Summary Answer: The Gen II AMH assay displayed appreciable variability, which can be explained by sample instability.

What Is Known Already: AMH is the primary predictor of ovarian performance and is used to tailor gonadatrophin dosage in cycles of IVF/ICSI and in other routine clinical settings. Thus, a robust, reproducible and sensitive method for AMH analysis is of paramount importance.

Placental expression of anti-angiogenic proteins in mirror syndrome: a case report.

Mirror syndrome is a rare disorder in which fetal hydrops is associated with maternal oedema, proteinuria and hypertension. The aetiology of the maternal condition is unknown, but it is thought to be related to preeclampsia. Few descriptions exist of placental morphology in mirror syndrome, but placentomegaly is consistently observed.

Simultaneous pancreas and kidney transplantation in diabetes with renal failure: the gold standard?

Simultaneous Pancreas and Kidney (SPK) transplantation in the 21st century is a proven therapeutic intervention for diabetes with renal failure. Although it is a major invasive procedure, successful transplantation leads to an overall improvement in the quality of life of the recipient, freedom from insulin and dialysis, along with stabilisation and improvement in several of the multi-system complications associated with long-term diabetes. It is also associated with improved longevity when compared to diabetics who have had a kidney transplant alone.

Peroxisome proliferator-activated receptors modulate proliferation and angiogenesis in human endometrial carcinoma.

Peroxisome proliferator-activated receptors (PPAR) and retinoid X receptors (RXR) are implicated in the development of several obesity-related cancers. Little is known of either the expression or function of PPARs and RXRs in endometrial cancer although this increasingly common disease is highly associated with both obesity and insulin resistance. We investigated the expression of PPAR and RXR subtypes in human endometrial cancers and normal endometrium with immunoblotting and immunohistochemistry and subsequently showed PPAR/RXR binding preferences by coimmunoprecipitation.

Uptake of risk-reducing salpingo-oophorectomy in women carrying a BRCA1 or BRCA2 mutation: evidence for lower uptake in women affected by breast cancer and older women.

Background: Bilateral risk-reducing salpingo-oophorectomy (BRRSO) is the only effective way of reducing mortality from ovarian cancer. This study investigates uptake of BRRSO in 700 BRCA1/2 mutation carriers from Greater Manchester.

Methods: Dates of last follow-up and BRRSO were obtained, and the following variables were investigated: ovarian cancer risk/gene, age and breast cancer history.

A case of confined placental mosaicism with double trisomy associated with stillbirth.

We present a case of stillbirth in which the fetus was well grown and karyotypically normal, but the placenta was morphologically abnormal and had confined placental mosaicism (CPM) for a double trisomy of chromosomes 12 and 15. A compilation of published cases of CPM reveals that whilst approximately 80% of pregnancies progress normally, there is an association with abnormal placental morphology, intrauterine growth restriction, fetal abnormalities and stillbirth. This case highlights the potential adverse effects of CPM and the benefit of placental examination in determining the cause of stillbirth.

Ventricular fibrillation following successful DC cardioversion for atrial fibrillation.

Cardioversion remains an important therapy in the management of atrial fibrillation. Here, we report a case where direct current cardioversion resulted in a sudden dramatic change of heart rate that was associated with multiple ventricular fibrillation arrests in a manner akin to that previously observed post-atrioventricular node ablation.

Effect of mitoxantrone on outcome of children with first relapse of acute lymphoblastic leukaemia (ALL R3): an open-label randomised trial.

Background: Although survival of children with acute lymphoblastic leukaemia has improved greatly in the past two decades, the outcome of those who relapse has remained static. We investigated the outcome of children with acute lymphoblastic leukaemia who relapsed on present therapeutic regimens.

Methods: This open-label randomised trial was undertaken in 22 centres in the UK and Ireland and nine in Australia and New Zealand.

Use of robotics in high-throughput DNA sequencing.

Until relatively recently, full sequencing of genes consisting of more than several exons was not considered practicable within a routine diagnostic context. As a result, many approaches to unknown mutation detection in a specific gene involved a mutation pre-screening step to limit the amount of DNA sequencing required. Protocols to pre-screen for mutations and limit the amount of DNA sequencing may not localise every base change present and/or require considerable levels of manual intervention.

Long-PCR amplification of human genomic DNA.

Standard polymerase chain reaction (PCR) protocols amplify relatively small fragments precluding the use of this approach when examining gross rearrangements of DNA. By using combinations of DNA polymerases, which feature either good polymerase activity or error-correction abilities, it is now possible to extend the length of DNA fragment that can be amplified. These "long-PCR" protocols have allowed the development of more rapid and convenient ways to analyse large-scale rearrangements of DNA and in many cases has superseded alternative approaches such as Southern blotting.

BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries.

Background: Previous publications and utilisation of risk models for BRCA1 and BRCA2 mutation identification suggests that multiple primary disease in an individual is a strong predictor of a BRCA1/2 mutation and that this is more predictive than the same cancers occurring in close relatives.

Methods: This study assessed the pathological mutation detection rates for BRCA1, BRCA2 and the CHEK2c.1100 delC mutation in 2022 women with breast cancer, including 100 with breast/ovary double primary and 255 with bilateral breast cancer.

Right coronary artery damage during cavotricuspid isthmus ablation.

Radiofrequency ablation of the cavotricuspid isthmus is the first-line treatment for typical atrial flutter. Despite the close proximity of the right coronary artery (RCA) to the cavotricuspid isthmus, only four cases of arterial injury have been reported during radiofrequency ablation, all detected postablation by inferior ST elevation. Here, we report atrioventricular (AV) conduction delay during coronary sinus pacing as a possible early sign of RCA involvement and review the previous literature on RCA damage and variations of AV nodal circulation.

How a central venous catheter surveillance tool was developed for use with all ethnic groups.

High rates of central venous catheter related infections in a renal unit highlighted a need to address catheter site care in these patients. However, a literature review found no surveillance tools that were designed to identify infections in all ethnic groups. Since the trust served an ethnically diverse population, the nursing team devised the multiracial visual inspection catheter tool observation record (MR VICTOR).

Vildagliptin in clinical practice: a review of literature.

Vildagliptin is the second member of the DPP-IV inhibitor class of drugs licensed for the treatment of type 2 diabetes mellitus (T2DM). The novel action of these drugs has promoted a new outlook in the pathobiology of T2DM. This review undertakes to examine the clinical studies published to date, with the aim of evaluating the position of vildagliptin among the drugs that are now available to treat this common dysmetabolic state.

Radial aplasia in CHARGE syndrome: a new association.

CHARGE syndrome affects up to 1 in 8500 births, and is most commonly due to de novo truncating mutations in the CHD7 gene. In addition to the 4 major (choanal atresia, coloboma, cranial nerve dysfunction and characteristic ear abnormalities) and 7 minor features (genital hypoplasia, developmental delay, cardiac anomalies, growth retardation, orofacial clefting, tracheo-oesophageal fistula and characteristic facies) proposed by Blake et al. [K.