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Day T.G.,Barnet and Chase Farm Hospitals NHS Trust
BMJ case reports

Rotavirus infection in children in the resource-rich countries is usually benign but complications are reported rarely. Four children presented within 4 weeks with neurological symptoms and stool virology positive for rotavirus. All four made a quick recovery and were discharged home after a few days without medication. At 6 weeks all were well, with no further neurological episodes. This is the first reported cluster of this nature. Potential mechanisms for how rotavirus causes its rare neurological complications are briefly discussed, along with clinical implications for clinicians managing such patients. Source

Vyas V.,Barnet and Chase Farm Hospitals NHS Trust | Lambiase P.D.,University College London
Frontiers in Physiology

SADS is defined as sudden death under the age of 40 years old in the absence of structural heart disease. Family screening studies are able to identify a cause in up to 50% of cases-most commonly long QT syndrome (LQTS), Brugada and early repolarization syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT) using standard clinical screening investigations including pharmacological challenge testing. These diagnoses may be supported by genetic testing which can aid cascade screening and may help guide management. In the current era it is possible to undertake molecular autopsy provided suitable samples of DNA can be obtained from the proband. With the evolution of rapid sequencing techniques it is possible to sequence the whole exome for candidate genes. This major advance offers the opportunity to identify novel causes of lethal arrhythmia but also poses the challenge of managing the volume of data generated and evaluating variants of unknown significance (VUS). The emergence of induced pluripotent stem cell technology could enable evaluation of the electrophysiological relevance of specificion channel mutations in the proband or their relatives and will potentially enable screening of idiopathic ventricular fibrillation survivors combining genetic and electrophysiological studies in derived myocytes. This also could facilitate the assessment of personalized preventative pharmacological therapies. This review will evaluate the current screening strategies in SADS families, the role of molecular autopsy and genetic testing and the potential applications of molecular and cellular diagnostic strategies on the horizon. © 2013 Vyas and Lambiase. Source

Rozati H.,Barnet and Chase Farm Hospitals NHS Trust | Shah S.P.,Croydon University Hospital | Shah N.,Guys and St Thomas NHS Foundation Trust
Journal of Cancer Education

A number of medical smartphone applications have been developed to assist clinical oncology specialists. Concerns have arisen that the information provided may not be under sufficient scrutiny. This study aims to analyse the current applications available for clinical oncologists in the UK. Applications aimed specifically at physician clinical oncologists were searched for on the major smartphone operating systems: Apple iOS; Google Android; Microsoft Windows OS; and Blackberry OS. All applications were installed and analysed. The applications were scrutinised to assess the following information: cost; whether the information included was referenced; when the information was last updated; and whether they made any reference to UK guidelines. A novel rating score based on these criteria was applied to each application. Fifty applications were identified: 24 for Apple’s iOS; 23 for Google’s Android; 2 for Blackberry OS; and 1 for Windows OS. The categories of applications available were: drug reference; journal reference; learning; clinical calculators; decision support; guidelines; and dictionaries. Journal reference and guideline applications scored highly on our rating system. Drug reference application costs were prohibitive. Learning tools were poorly referenced and not up-to-date. Smartphones provide easy access to information. There are numerous applications devoted to oncology physicians, many of which are free and contain referenced, up-to-date data. The cost and quality of drug reference and learning applications have significant scope for improvement. A regulatory body is needed to ensure the presence of peer-reviewed, validated applications to ensure their reliability. © 2014, Springer Science+Business Media New York. Source

Savage L.,Barnet and Chase Farm Hospitals NHS Trust
BMJ case reports

A 28-year-old woman presented to accident and emergency department with a 1-day history of right-sided abdominal pain. She was afebrile, and haemodynamically stable, and the initial diagnosis was acute appendicitis. A transvaginal ultrasound scan was performed and was suggestive of appendicitis. The patient failed to improve with conservative management, and a laparosocopic appendicectomy was performed the next day to remove an inflamed, non-perforated appendix. Pelvic laparoscopy was performed, which noted normal ovaries and uterus, as well as a hard, swollen, discoloured epiploic appendage of the sigmoid colon. A decision was made not to remove the inflamed epiploic appendage. Postoperatively the patient complained of persisting pain, which settled over 2 days with analgesia and antibiotics. This case is an extremely unusual case of epiploic appendagitis and acute appendicitis. It demonstrates the importance of pelvic laparoscopy in all females with presumed appendicitis, even in the presence of an initial pathology. Source

O'Sullivan M.,University College London | Rutland P.,University College London | Lucas D.,Speech Kingdom | Ashton E.,NE Thames Regional Genetics Service | And 3 more authors.
Human Molecular Genetics

The mitochondrial DNA mutation m.1555A>G predisposes to hearing loss following aminoglycoside antibiotic exposure in an idiosyncratic dose-independent manner. However, it may also cause maternally inherited hearing loss in the absence of aminoglycoside exposure or any other clinical features (non-syndromic hearing loss). Although m.1555A>G was identified as a cause of deafness more than twenty years ago, the pathogenic mechanism of this mutation of ribosomal RNA remains controversial. Different mechanistic concepts have been proposed. Most recently, evidence from cell lines and animal models suggested that patients with m.1555A>G may have more 12S rRNA N6, N6-dimethyladenosine (m6 2A) methylation than controls, so-called 'hypermethylation'. This has been implicated as a pathogenic mechanism of mitochondrial dysfunction but has yet to be validated in patients. 12S m6 2A rRNA methylation, by the mitochondrial transcription factor 1 (TFB1M) enzyme, occurs at two successive nucleotides (m.1584A and m.1583A) in close proximity to m.1555A>G. We examined m6 2A methylation in 14 patients with m.1555A>G, and controls, and found all detectable 12S rRNA transcripts to be methylated in both groups. Moreover, different RNA samples derived from the same patient (lymphocyte, fibroblast and lymphoblast) revealed that only transformed cells contained some unmethylated 12S rRNA transcripts, with all detectable 12S rRNA transcripts derived from primary samples m6 2A-methylated. Our data indicate that TFB1M 12S m6 2A rRNA hypermethylation is unlikely to be a pathogenic mechanism and may be an artefact of previous experimental models studied. We propose that RNA methylation studies in experimental models should be validated in primary clinical samples to ensure that they are applicable to the human situation. © The Author 2014. Published by Oxford University Press. Source

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