Anaesthetic management of emergency caesarean section with isolated cortical vein thrombosis and subacute intracerebral haemorrhage.

We report the case of an emergency caesarean section 5 days following the onset of a right-sided hemiparesis due to an intracerebral haemorrhage. Computerised tomography imaging in the postoperative period revealed an isolated cortical vein thrombosis as the likely cause. The caesarean section was conducted under general anaesthesia following consideration of the risks and benefits and discussion of these with the patient.

Pyrethroid Insecticides in Households from Urban Areas: An Association of the 3-PBA Metabolite and Hand Wipes.

Background: Pyrethroid exposure in the household environment affects children directly via inhalation or dermal exposure. Hand wipes can effectively predict pyrethroid exposure to young children along with the children's activities. The main purpose of this study is to identify the relationship between 3-PBA metabolites, hand wipe sample concentrations and multiple exposure factors, within the population of households with young children in urban Bangkok, Thailand.

Trauma transformed: A positive review of change during the COVID-19 pandemic.

Charles Moore in The Telegraph recently described the NHS as 'lumbering'. Far from this description, it has been our experience that the NHS has rapidly transformed across specialties in order to respond to the unprecedented global crisis of COVID-19. We describe here the multiple ways in which the plastic surgery trauma service at Salisbury District Hospital swiftly adapted over a two-week period in March 2020.

Olaparib monotherapy for Asian patients with a germline BRCA mutation and HER2-negative metastatic breast cancer: OlympiAD randomized trial subgroup analysis.

The OlympiAD Phase III study (NCT02000622) established the clinical benefits of olaparib tablet monotherapy (300 mg twice daily) over chemotherapy treatment of physician's choice (TPC) in patients with a germline BRCA1/2 mutation (gBRCAm) and human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer who had received ≤2 chemotherapy lines in the metastatic setting. Here, we report pre-specified analyses of data from Asian (China, Japan, Korea and Taiwan) patients in the study. All patients were randomized 2:1 to olaparib tablets (300 mg twice daily) or single-agent chemotherapy TPC (21-day cycles of either capecitabine, eribulin or vinorelbine).

Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection.

Purpose: Genomic methods can identify homologous recombination deficiency (HRD). Rigorous evaluation of their outcome association to DNA damage response-targeted therapies like platinum in pancreatic ductal adenocarcinoma (PDAC) is essential in maximizing therapeutic outcome.

Experimental Design: We evaluated progression-free survival (PFS) and overall survival (OS) of patients with advanced-stage PDAC, who had both germline- and somatic-targeted gene sequencing.

Magnetic resonance phase contrast velocity mapping for flow quantification in irregular heart rhythms using radial k-space ultrashort echo time imaging.

Background: Phase contrast velocity mapping sequences utilising ultrashort echo time (UTE) radial k-space sequences have been used to reduce intravoxel dephasing at high velocities. We evaluated the accuracy of the UTE flow sequence for mitral regurgitation (MR) quantification, including patients with atrial fibrillation.

Methods: Forty patients underwent cardiac MRI for indirect MR quantification by assessment of aortic flow using a UTE phase contrast sequence (TE 0.

Halogenated organic contaminants of concern in urban-influenced waters of Lake Ontario, Canada: Passive sampling with targeted and non-targeted screening.

Passive samplers are useful tools for monitoring hydrophobic, persistent, and potentially bioaccumulative contaminants in the environment. In this study, low density polyethylene passive samplers were deployed in urban-influenced and background nearshore freshwaters of northwestern Lake Ontario and analyzed for a broad range of both legacy halogenated organic contaminants (HOCs) and halogenated flame retardants (HFRs). Non-targeted analysis was conducted for screening additional halogenated substances.

Protein-altering germline mutations implicate novel genes related to lung cancer development.

Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio = 8.

Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.

Purpose: To develop recommendations for management of patients with breast cancer (BC) with germline mutations in BC susceptibility genes.

Methods: The American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology convened an Expert Panel to develop recommendations based on a systematic review of the literature and a formal consensus process.

Results: Fifty-eight articles met eligibility criteria and formed the evidentiary basis for the local therapy recommendations; six randomized controlled trials of systemic therapy met eligibility criteria.

Illustrating Cancer Risk: Patient Risk Communication Preferences and Interest regarding a Novel BRCA1/2 Genetic Risk Modifier Test.

Introduction: Genetic risk modifier testing (GRMT), an emerging form of genetic testing based on common single nucleotide polymorphisms and polygenic risk scores, has the potential to refine estimates of BRCA1/2 mutation carriers' breast cancer risks. However, for women to benefit from GRMT, effective approaches for communicating this novel risk information are needed.

Objective: To evaluate patient preferences regarding risk communication materials for GRMT.

Radiation Treatment, ATM, BRCA1/2, and CHEK2*1100delC Pathogenic Variants and Risk of Contralateral Breast Cancer.

Whether radiation therapy (RT) affects contralateral breast cancer (CBC) risk in women with pathogenic germline variants in moderate- to high-penetrance breast cancer-associated genes is unknown. In a population-based case-control study, we examined the association between RT; variants in ATM, BRCA1/2, or CHEK2*1100delC; and CBC risk. We analyzed 708 cases of women with CBC and 1399 controls with unilateral breast cancer, all diagnosed with first invasive breast cancer between 1985 and 2000 and aged younger than 55 years at diagnosis and screened for variants in breast cancer-associated genes.

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach.

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.

Background: The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) risks for carriers of pathogenic variants in RAD51C and RAD51D.

Methods: We analyzed data from 6178 families, 125 with pathogenic variants in RAD51C, and 6690 families, 60 with pathogenic variants in RAD51D. TOC and BC relative and cumulative risks were estimated using complex segregation analysis to model the cancer inheritance patterns in families while adjusting for the mode of ascertainment of each family.

Contributions of Interleukin-1 Receptor Signaling in Traumatic Brain Injury.

Traumatic brain injury (TBI) in various forms affects millions in the United States annually. There are currently no FDA-approved therapies for acute injury or the chronic comorbidities associated with TBI. Acute phases of TBI are characterized by profound neuroinflammation, a process that stimulates the generation and release of proinflammatory cytokines including interleukin-1α (IL-1α) and IL-1β.

Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.

Background: With limited information on germline mutations in biliary tract cancers, this study performed somatic and germline testing for patients at Memorial Sloan Kettering Cancer Center with known biliary tract carcinoma with the aim of determining the frequency and range of pathogenic germline alterations (PGAs).

Methods: Patients with biliary tract carcinoma were consented for somatic tumor and matched blood testing of up to 468 genes via the Memorial Sloan Kettering Cancer Center Integrated Mutation Profiling of Actionable Cancer Targets next-generation sequencing platform. A germline variant analysis was performed on a panel of up to 88 genes associated with an increased predisposition for cancer.

Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening.

Purpose: Despite advances in DNA sequencing technology and expanded medical guidelines, the vast majority of individuals carrying pathogenic variants of common cancer susceptibility genes have yet to be identified. An alternative to population-wide genetic screening of healthy individuals would exploit the trend for genetic testing at the time of cancer diagnosis to guide therapy and prevention, combined with augmented familial diffusion or "cascade" of genomic risk information.

Methods: Using a multiple linear regression model, we derived the time interval to detect an estimated 3.

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one.

Evaluation of the 12-Gene Molecular Score and the 21-Gene Recurrence Score as Predictors of Response to Neo-adjuvant Chemotherapy in Estrogen Receptor-Positive, HER2-Negative Breast Cancer.

Background: Neo-adjuvant chemotherapy (NaCT) facilitates complete surgical resection in locally advanced breast cancer. Due to its association with improved outcome, complete pathologic response (pCR) to neo-adjuvant treatment has been accepted as a surrogate for long-term outcome in clinical trials of human epidermal growth factor receptor 2 (HER2)-positive, triple-negative, or luminal B breast cancer patients. In contrast, NaCT is effective in only ~ 7-10% of estrogen receptor (ER)-positive, HER2-negative disease.

Novel Germline Mutations in DNA Damage Repair in Patients with Malignant Pleural Mesotheliomas.

Introduction: Although next-generation sequencing (NGS) has brought insight into critical mutations or pathways (e.g., DNA damage sensing and repair) involved in the etiology of many cancers and has directed new screening, prevention, and therapeutic approaches for patients and families, it has only recently been used in malignant pleural mesotheliomas (MPMs).

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.

Purpose: To evaluate the effectiveness of the Genomics ADvISER (www.genomicsadviser.com) decision aid (DA) for selection of secondary findings (SF), compared with genetic counseling alone.

Author Correction: Tumour lineage shapes BRCA-mediated phenotypes.

An Amendment to this paper has been published and can be accessed via a link at the top of the paper.

Accuracy of algorithms to predict injury severity in older adults for trauma triage.

: Older adults make up a rapidly increasing proportion of motor vehicle occupants and previous studies have demonstrated that this population is more susceptible to traumatic injuries. The CDC recommends that patients anticipated to have severe injuries (Injury Severity Score [ISS] ≥ 16) be transported to a trauma center. The recommended target rate for undertriage is ≤ 5% and for overtriage is ≤ 50%.