Indirect Carotid Cavernous Fistula

A 67-year-old woman had delayed initial diagnosis of her right low flow carotid cavernous fistula (CCF) during the coronavirus disease (COVID-19) pandemic due to difficulty detecting ocular signs via online virtual examinations. Her right eye conjunctival erythema and proptosis with medial rectus enlargement on computed tomography scan was initially misdiagnosed as euthyroid thyroid-associated orbitopathy without lid retraction. She developed vision loss, and increasing episcleral venous congestion and CCF was suspected. Computed tomographic angiography did not show an obvious fistula. Digital subtraction angiography revealed the right-sided low flow CCF, which was fed from vessels from the contralateral side

Feeding the young child : an ounce of prevention

Dr. C. Dunkley, Dr. Donald Hill and nutritionist Catherine Rand talk about the kinds of food an infant needs as it grows, and how it develops its own feeding habits. The discussion includes the topic of obesity in children

Giant Cell Arteritis: Diagnostic Prediction Models, Temporal Artery Biopsy and Epidemiology

Giant cell arteritis (GCA) is the most common primary vasculitis in the elderly and can cause irreversible blindness, aortitis, and stroke. Diagnostic confirmation of GCA usually entails temporal artery biopsy (TABx) - a time-consuming and invasive test, or ultrasound. The primary treatment of GCA is with high dose glucocorticoids that have numerous potential side effects. Glucocorticoids are initiated prior to the TABx result, due to the risk of interim blindness. By 2050 the cost of blindness from GCA in the United States is estimated at $76 billion with an additional$6 billion from glucocorticoid-induced fractures. This thesis examines knowledge gaps in the diagnosis and epidemiology of GCA. Needed refinements in the diagnosis of GCA included: i) the optimization of diagnostic prediction models (PMs) and ii) clarification of the contemporary utilization parameters of TABx. With regards to i) previous PMs are usually based on limited sample size, do not leverage sufficient clinical predictors, or include continuous variables, and not compliant with the transparent reporting guidelines for diagnostic PMs (TRIPOD). Using multicentre data of consecutive patients undergoing TABx, the largest (n=1,201) and most comprehensive logistic regression and, neural network PMs for GCA were formulated. Age, platelet level, jaw claudication and vision loss eventuated as the key predictor variables. An online risk calculator was developed from the PM and could decrease both the number of TABx performed on low-risk patients, and the morbidity from unneeded glucocorticoids. Regarding ii) although TABx has long been acknowledged as the gold standard test for GCA the current preference for TABx versus ultrasound amongst neuro-ophthalmologists and the utility rate of TABx are unknown. The thesis survey revealed that 91% of neuro- ophthalmologists preferred TABx over ultrasound as the confirmatory test for GCA. The first systematic review for the utility rate of TABx disclosed a median positive yield of 25% and provides a benchmark for institutions performing this procedure. Knowledge gaps in the epidemiology of GCA important for public health planning included the incidence of GCA in Ontario, Canada, and the controversial role of herpes zoster in the development of GCA given the advent of zoster vaccines. Pathology audit and an assay of billing data revealed the incidence of biopsy-proven GCA in Ontario to be 4.9 per 100,000 individuals 50 years of age or older. On ecologic analysis, the inverse relationship of the incidence rates of herpes zoster versus GCA per country suggested zoster is not a major immunopathogenic trigger for GCA. In summary, this thesis discusses the diagnosis and epidemiology of GCA, most notably in the area of clinical prediction models that aid in the triage of patients with suspected GCA

Dabigatran Dual Therapy Versus Warfarin Triple Therapy Post-Percutaneous Coronary Intervention in Patients With Atrial Fibrillation With/Without a Proton Pump Inhibitor: A Pre-specified Analysis of the RE-DUAL PCI Trial

Article full text The above video represents the opinions of the authors. For a full list of declarations, including funding and author disclosure statements, please see the full text online (see “read the peer-reviewed publication” opposite). © The authors, CC-BY-NC 2020

Metadata supporting Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

This metadata record describes the data generated and analysed in the study "Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer". The study investigates genetic survival associations in pathogenic variant carriers from Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), genotyped on the OncoArray. Data availability and sourcesA subset of the genotype data that support the findings of this study is publicly available via dbGaP https://identifiers.org/dbgap:phs001321.v1.p1 CIMBA 1000 Genomes-imputed genotype data is protected in accordance with the informed consent received from the study participants and therefore cannot be made publicly available. Requests for data can be made to the CIMBA Data Access Coordination Committee. DACC approval is required to access data from the BCFR-ON, EMBRACE, GC-HBOC, HEBCS, HEBON, IHCC, IPOBCS, MCGILL, and OUH studies Phenotype data is stored in a relational database and an output would be a text file. Imputed genotype data can be requested in the QCTOOL dosage format (https://www.well.ox.ac.uk/~gav/qctool_v2/documentation/genotype_file_formats.html), which has been used in these analyses The contact for data access requests is Lesley McGuffog ([email protected]), Data Manager, Department of Public Health and Primary Care, University of Cambridge Newly discovered survival SNPs were characterized in silico utilizing data from the 1000 genomes and Encode projects as integrated in databases LDlink, RegulomeDB and GeneCards. Candidate genes’ mRNA expression and patient survival was tested in the METABRIC data in European Genome-phenome Archive: EGAD00010000434 (1,302 breast cancer patients). BCAC survival summary results are available from the University of Cambridge BCAC site All summary results will be made available on the CIMBA website upon publication of the related article: http://cimba.ccge.medschl.cam.ac.uk The data that support each table and figure in the related article are summarised in the excel file in this data record. BackgroundThis study investigates the survival of women carrying germline pathogenic BRCA1 or BRCA2 variants. These are the two most important genes linked to breast cancer susceptibility. The great variation in survival rates between tumors with similar characteristics and stage suggests a heritable component, e.g. genetic differences in metastatic potential sensitivity to adjuvant therapy or host factors, like tumor microenvironment interaction, immune surveillance, and efficiency in drug metabolism. Both candidate gene and genome-wide approaches have been employed to find genetic determinants patient prognosis and treatment outcome prediction. Participants women of European ancestry diagnosed with invasive breast cancer before the age of 70 years, enrolled in studies participating in CIMBA. CIMBA studies included in analysis if sufficient follow-up data are available, at least 15 study subjects at risk during the time when five events occurred. Patients were followed from the diagnosis of the first primary breast cancer until death of any causeand censored after 15 years or when lost from follow-up Supplementary table 1 of the related article lists all CIMBA studies, characteristics, sample and cohort sizes. Overall sample sizes: 21 studies for carrier of BRCA1 variants (n = 3,008) 15 studies for carriers of BRCA2 variants (n = 2,009)