Congenital laryngeal cysts were described first by Abercrombie in 18811 and present a life-threatening condition which can compromise the upper airway. Congenital laryngeal cysts are rare with an ...incidence of 1.82 per 100 000 live births,2 and urgent surgical intervention is considered the mainstay intervention.3 A 3-day-old term baby had been referred to our service with mild intermittent inspiratory stridor and a hoarse cry that had been present since birth. No significant family history was noted. The baby did not require respiratory support, was not desaturating on room air, and had established breastfeeding. Prenatally, fetal ultrasound scans detected both renal and hepatic cystic lesions.
Abstract BACKGROUND Pediatric patients with Diffuse Midline Gliomas (DMG), H3K27M altered have a dismal prognosis and novel therapeutic approaches are urgently needed. Factors that drive development ...of pediatric DMG are unknown. METHODS To determine the prevalence of germline pathogenic/likely pathogenic variants (P/LPV) in DMG, we assembled an international cohort of 252 patients with germline whole genome or whole exome sequencing data, including diffuse intrinsic pontine glioma (DIPG; n=153), from Australian, European and North American centres. RESULTS We identified germline P/LPV in cancer predisposition genes in 7.5% (19/252) of patients, mainly homologous recombination (n=9; BRCA1, BRCA2, PALB2) and Fanconi anemia genes (n=4). Germline P/LPV in mismatch repair genes (MSH2, PMS2) were found in two patients. Two patients each had two separate germline P/LPV. The prevalence of germline P/LPV was not significantly different according to age, location of DMG nor H3K27M mutational status. Furthermore, tumor profiles differed, with absence of somatic drivers in the PI3K/mTOR pathway in patients with germline P/LPV compared to those without (P = 0.023). Knockdown of BRCA1 in DMG cell cultures sensitized tumor cells to PARP inhibition. Reflecting the potential therapeutic relevance of these findings, we describe one H3.3 K27M-mutant DMG patient with a pathogenic germline BRCA2 and FANCE variant and multiple recurrences, who was treated with a PARP inhibitor (olaparib) and immune checkpoint inhibitor, leading to a near complete radiological response after 4 months. CONCLUSION Our study is the largest series to date investigating germline P/LPV in cancer predisposition genes in DMG and provides new therapeutic insights. It is expected that these germline findings will also guide cascade testing for a proband’s relatives. Our data highlight the importance of germline testing in H3K27-altered DMG patients at diagnosis.
Much effort and many resources have been put into developing ways of eliciting valid and informative student feedback on courses in medical, nursing, and other health professional schools. Whatever ...their motivation, items, and setting, the response rates have usually been disappointingly low, and there seems to be an acceptance that the results are potentially biased.
The objective of the study was to look at an innovative approach to course assessment by students in the health professions. This approach was designed to make it an integral part of their educational experience, rather than a marginal, terminal, and optional add-on as "feedback". It becomes a weighted, but ungraded, part of the course assignment requirements.
A ten-item, two-part Internet instrument, MyCourseQuality (MCQ-10D), was developed following a purposive review of previous instruments. Shorthand labels for the criteria are: Content, Organization, Perspective, Presentations, Materials, Relevance, Workload, Support, Interactivity, and Assessment. The assessment is unique in being dually personalized. In part 1, at the beginning of the course, the student enters their importance weights for the ten criteria. In part 2, at its completion, they rate the course on the same criteria. Their ratings and weightings are combined in a simple expected-value calculation to produce their dually personalized and decomposable MCQ score. Satisfactory (technical) completion of both parts contributes 10% of the marks available in the course. Providers are required to make the relevant characteristics of the course fully transparent at enrollment, and the course is to be rated as offered. A separate item appended to the survey allows students to suggest changes to what is offered. Students also complete (anonymously) the standard feedback form in the setting concerned.
Piloting in a medical school and health professional school will establish the organizational feasibility and acceptability of the approach (a version of which has been employed in one medical school previously), as well as its impact on provider behavior and intentions, and on student engagement and responsiveness. The priorities for future improvements in terms of the specified criteria are identified at both individual and group level. The group results from MCQ will be compared with those from the standard feedback questionnaire, which will also be completed anonymously by the same students (or some percentage of them).
We present a protocol for the piloting of a student-centered, dually personalized course quality instrument that forms part of the assignment requirements and is therefore an integral part of the course. If, and how, such an essentially formative Student-Reported Outcome or Experience Measure can be used summatively, at unit or program level, remains to be determined, and is not our concern here.
An uncemented porous-coated humeral component, which functioned in vivo for over 2 1/2 years, was retrieved postmortem and examined histologically. Radiographs of the specimen revealed close ...approximation to the endosteal cortex medially and laterally. Apposition was limited or absent anteriorly and posteriorly. The overall extent of bone ingrowth was approximately 11% of the available pore volume with over 95% of ingrowth occurring in the medial and lateral quadrants. Bone ingrowth was limited anteriorly and posteriorly to regions in which spot welds were identified radiographically. There were no loose beads or coating failure observed.
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