Neuroendocrine tumours and pregnancy: Real-world data from an European Neuroendocrine Tumour Centre of Excellence.

Neuroendocrine neoplasms (NENs) arise from the diffuse endocrine system and have been considered to be rare. However, the incidence and prevalence of these tumours have increased in recent years, and they are being seen in younger patients including women in the reproductive age group. Due to the paucity of data, diagnostic and therapeutic strategies in managing such tumours during pregnancy can be challenging to both treating physicians and patients.

The Clinical Utility of the NETest in Patients with Small Intestinal Neuroendocrine Neoplasms (Si-NENs): A "Real-Life" Study.

Current biomarkers do not adequately predict the behaviour of neuroendocrine neoplasms (NENs). This study assessed the NETest, a multianalyte blood biomarker, in patients with small intestinal NENs (Si-NENs). We studied two patient groups: Group 1: metastatic Si-NENs ( = 102) and Group 2: post-operatively disease-free according to 68Ga-DOTATATE PET ( = 16).

Modified in-vitro AATCC-100 procedure to measure viable bacteria from wound dressings.

Chronic wounds are reoccurring healthcare problems in the United States and cost up to $50 billion annually. Improper wound care results in complications such as wound debridement, surgical amputation, and increased morbidity/ mortality due to opportunistic infections. To eliminate wound infections, many antimicrobial dressings are developed and submitted to FDA for evaluation.

Applications of advanced technologies for detecting genomic structural variation.

Chromosomal structural variation (SV) encompasses a heterogenous class of genetic variants that exerts strong influences on human health and disease. Despite their importance, many structural variants (SVs) have remained poorly characterized at even a basic level, a discrepancy predicated upon the technical limitations of prior genomic assays. However, recent advances in genomic technology can identify and localize SVs accurately, opening new questions regarding SV risk factors and their impacts in humans.

svCapture: efficient and specific detection of very low frequency structural variant junctions by error-minimized capture sequencing.

Error-corrected sequencing of genomic targets enriched by probe-based capture has become a standard approach for detecting single-nucleotide variants (SNVs) and small insertion/deletions (indels) present at very low variant allele frequencies. Less attention has been given to comparable strategies for rare structural variant (SV) junctions, where different error mechanisms must be addressed. Working from samples with known SV properties, we demonstrate that duplex sequencing (DuplexSeq), which demands confirmation of variants on both strands of a source DNA molecule, eliminates false SV junctions arising from chimeric PCR.

Locus-specific transcription silencing at the FHIT gene suppresses replication stress-induced copy number variant formation and associated replication delay.

Impaired replication progression leads to de novo copy number variant (CNV) formation at common fragile sites (CFSs). We previously showed that these hotspots for genome instability reside in late-replicating domains associated with large transcribed genes and provided indirect evidence that transcription is a factor in their instability. Here, we compared aphidicolin (APH)-induced CNV and CFS frequency between wild-type and isogenic cells in which FHIT gene transcription was ablated by promoter deletion.

Splenic artery pseudoaneurysm: Challenges of non-invasive and endovascular diagnosis and management.

Splenic artery pseudoaneurysms (PAs) are uncommon and often occur as a complication of pancreatitis or trauma. Unlike true aneurysms, PAs are symptomatic in a majority of cases and patients can present with a constellation of non-specific symptoms. Diagnosis can be challenging due to variation in presenting features and mimicking pathologies.

Radiology department preparedness for COVID-19 - experience of a central-London hospital.

The COVID-19 pandemic has placed significant strain on healthcare systems across the world, requiring rapid adaptation and a change in approach to the delivery of healthcare services. Although not always immediately at the frontline, radiology has a key role in the effort against the SARS-CoV-2 virus. Radiology preparedness, including the development of a set of policies and procedures designed to acquire and maintain enough capacity to support the ongoing care needs of patients both with and without COVID-19, is essential in this modern-day healthcare crisis of unprecedented magnitude.

Pulmonary embolism following complex trauma: UK MTC observational study.

Objectives: To describe the incidence of pulmonary embolism (PE) in a critically ill UK major trauma centre (MTC) patient cohort.

Methods: A retrospective, multidataset descriptive study of all trauma patients requiring admission to level 2 or 3 care in the East of England MTC from 1 November 2014 to 1 May 2017. Data describing demographics, the nature and extent of injuries, process of care, timing of PE prophylaxis, tranexamic acid (TXA) administration and CT scanner type were extracted from the Trauma Audit and Research Network database and hospital electronic records.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Juvenile segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ starting in childhood. Hutchinson-Gilford progeria syndrome (HGPS), caused by a recurrent de novo synonymous LMNA mutation resulting in aberrant splicing and generation of a mutant product called progerin, is a prototypical example of such disorders. Here, we performed a joint collaborative study using massively parallel sequencing and targeted Sanger sequencing, aimed at delineating the underlying genetic cause of 14 previously undiagnosed, clinically heterogeneous, non-LMNA-associated juvenile progeroid patients.

Modeling Learning in Surgical Practice.

Objective: Methods that model surgical learning curves are frequently descriptive and lack the mathematical rigor required to extract robust, meaningful, and quantitative information. We aimed to formulate a method to model learning that is tailored to dealing with the high variability seen in surgical data and can readily extract important quantitative information such as learning rate, length of learning, and learnt level of performance.

Methods: We developed a method where progressively more complex models are fitted to learning data.

Integration of high-risk human papillomavirus into cellular cancer-related genes in head and neck cancer cell lines.

Background: Human papillomavirus (HPV)-positive oropharyngeal cancer is generally associated with excellent response to therapy, but some HPV-positive tumors progress despite aggressive therapy. The purpose of this study was to evaluate viral oncogene expression and viral integration sites in HPV16- and HPV18-positive squamous cell carcinoma lines.

Methods: E6/E7 alternate transcripts were assessed by reverse transcriptase-polymerase chain reaction (RT-PCR).

Granulocytic sarcoma: a rare cause of sciatica.

We describe a case report of a man aged 56 years with a 4-month history of right-sided sciatica-type pain with subclinical disc prolapse evident on MRI. Worsening pain together with the appearance of a tender mass in his right buttock prompted further imaging, which demonstrated an infiltrative mass engulfing the lumbosacral plexus. This was later shown to be a granulocytic sarcoma on biopsy.

An unusual presentation of adenoid cystic carcinoma of the breast with metastatic disease in the clavicle.

Adenoid cystic carcinoma (ACC) of the breast is a rare subtype of invasive breast cancer. Prognosis is excellent with low rates of recurrence and metastatic disease compared with other triple-negative forms of breast carcinoma and other non-breast forms of ACC. We present a case of a 63-year-old female with metastatic disease in the clavicle 13 years after excision of the breast primary.

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.

Background: Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the gene. The resultant disease-causing protein, progerin, acts as a dominant negative. Disease severity relies partly on progerin levels.

Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.

Holocarboxylase synthetase (HLCS) deficiency is a rare autosomal recessive disorder that presents with multiple life-threatening metabolic derangements including metabolic acidosis, ketosis, and hyperammonemia. A majority of HLCS deficiency patients respond to biotin therapy; however, some patients show only a partial or no response to biotin therapy. Here, we report a neonatal presentation of HLCS deficiency with partial response to biotin therapy.

Conversion From Calcineurin to Mammalian Target of Rapamycin Inhibitors in Liver Transplantation: A Meta-Analysis of Randomized Controlled Trials.

Background: Conversion to mammalian target of rapamycin inhibitors (mTORi) is often used in liver transplantation to overcome calcineurin inhibitor (CNI) nephrotoxicity but the evidence base for this approach is not well defined. To summarize the evidence, from randomized clinical trials (RCTs), for conversion from CNI to mTORi-based immunosuppression after liver transplantation.

Methods: Databases and conference abstracts were searched up to August 2015.

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.

A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongenetic factors.

Large transcription units unify copy number variants and common fragile sites arising under replication stress.

Copy number variants (CNVs) resulting from genomic deletions and duplications and common fragile sites (CFSs) seen as breaks on metaphase chromosomes are distinct forms of structural chromosome instability precipitated by replication inhibition. Although they share a common induction mechanism, it is not known how CNVs and CFSs are related or why some genomic loci are much more prone to their occurrence. Here we compare large sets of de novo CNVs and CFSs in several experimental cell systems to each other and to overlapping genomic features.