Effective treatments that extend survival of malignant brain tumor glioblastoma (GBM) have not changed in more than a decade; however, there exists a minority patient group (<5%) whose survival is longer than 3 yr. We herein present a case report of a long-term surviving 51-yr-old female diagnosed with a MGMT unmethylated GBM. The patient was progression-free for 23 mo. Fresh primary and recurrent tumor samples were collected and processed for patient-derived model development. Whole-genome sequencing (WGS) was performed concurrently with additional standard of care diagnostics. WGS revealed a hypermutated genotype in the germline tissue and in both the primary and recurrent tumor samples. Specific to the matched tumors, an average of 30 cancer driver genes were mutated. Noteworthy was the identification of a nonsynonymous mutation in the POLE gene. As a possible instigator of the hypermutational genotype observed in the tumors, we identified nonsynonymous germline mutations within the mismatch repair genes, MLH1 and PMS2 . Mutations within these genes are often indicative of the pan-cancer phenotype known as Lynch syndrome; however, their pathogenicity remains unreported. We performed a drug screen of 165 compounds, which identified one compound, YM155, an experimental survivin inhibitor, that showed effectivity to the patient-derived cell lines of both tumors. Treatment selection based on a patient's genome to individualize treatment for GBM patients could potentially be useful in the clinic. This is a promising avenue for further translational research, with larger databases and integrated platforms to increase the efficiency of analyzing and interpreting the individual genomic data of GBM.

Background Breast augmentation remains the commonest cosmetic surgical procedure worldwide, in spite of recent regulatory action. Objectives We established a breast implant assessment clinic to evaluate women with breast implants and sought to capture clinical and implant data in women presenting to the service. Methods Patients were enrolled prospectively between January 2018 and December 2021. Clinical, implant, and practitioner data were recorded. Patients reported satisfaction on size, shape, and overall outcome as well as the presence or pain. Radiological evaluation, where indicated, was performed and data was included on these findings. Results A total of 603 patients were assessed. Mean age was 42.7 years and mean age of implantation was 29.1 years. The most common complications were capsular contracture followed by pain waterfall deformity and double bubble with rupture/contracture rates increasing after the 10-year mark. The risk of double bubble was significantly lower if patients were operated on by certified practitioners (OR = 0.49, p = 0.011). There was almost universally poor awareness of the risks of breast implants in patients presenting for evaluation. Conclusions This study has shown benefit in a breast implant assessment clinic to gather information on adverse events and patient reported outcomes following breast implant surgery. For patients who underwent cosmetic augmentation by appropriately trained and certified practitioners, the risk of implant malposition and deformity is significantly lowered. Any adverse event occurring within 5 years of initial surgery should be flagged as a mandatory reportable clinical indicator and trigger further investigation.

A term male infant was born at 2800 g and established on CPAP for respiratory distress. Chest radiograph demonstrated a severe right sided eventration of the diaphragm (Figure 1). Ultrasound of the diaphragm was in keeping with the diagnosis. Both the child’s mother and maternal grandmother had also been diagnosed with the same condition. Echocardiogram revealed a small central ASD/PFO but no pulmonary hypertension. Genetics workup is ongoing. As the child was unable to be weaned off CPAP, thoracoscopic plication of the diaphragm was planned for day eight of life.

Objective: The present study aims to describe the characteristics of early ED re-presentations in a regional hospital in New South Wales, Australia. Methods: This was a retrospective review of all patients re-presenting within 72 h of discharge from Coffs Harbour Base Hospital ED, a regional ED, for the 2016-2017 financial year. Presentations were categorised according to their diagnosis and cause for re-presentation. Results: Of the 38 986 presentations to the ED within the study period, 2125 patients met re-presentation inclusion criteria (5.45%). Diagnoses most likely to re-present were injury/trauma (18.8%), gastrointestinal (14.8%) and psychiatric (12.5%). The most common cause for re-presentation was disease progression (32.7%). Patients aged over 66 were the most likely to be admitted on re-presentation (35.8%) followed by the 17-65 age group (24.2%) and the <16 age group (18.7%).Conclusions: Re-presentations were common, but did not lead to increased admissions. The regional hospital in the present study had a higher 72 h ED re-presentation rate than the comparative major city hospital. In particular, paediatric and psychiatric re-presentations were a greater burden to the regional ED. This may be secondary to a lack of alternative services, particularly for these patient groups. Improving these outpatient services may help to reduce the burden of 72 h ED representations.