104 research outputs found
Temporomandibular Joint Herniation into the External Auditory Canal
Teaching point: Always ask a patient to open and close their mouth when you see a mass protruding into the external auditory canal, as to not miss this rare anomaly
Calpain cleavage and subcellular characterisation of the ferlin family.
The ferlins are a family of C2-domain containing proteins. C2 domains regulate vesicle fusion in synaptotagmins, and animal models of ferlin deficiency display pathologies related to Ca2+-dependent vesicle fusion. Dysferlin mutations cause limb-girdle muscular dystrophy due to defective membrane repair. Our group has previously shown that Ca2+-dependent proteases, calpains, cleave dysferlin following membrane injury, releasing mini-dysferlinC72, that we hypothesise mediates membrane repair. Otoferlin mutations cause non-syndromic deafness, while no pathology causing mutations have been identified in other ferlins. My project establishes that dysferlin and myoferlin, type-I ferlins, are present at the plasma membrane and endo-lysosomal pathway while otoferlin and Fer1L6, type-II ferlins, are present at the plasma membrane and recycling trans-Golgi compartments. I also show that dysferlin is cleaved to mini-dysferlinC72 following injury in all cell types by the ubiquitous calpains-1 and -2 in the alternatively spliced exon 40a, indicating dysferlin cleavage is a fundamental response to membrane injury. Exon 40a-containing dysferlin recruits to sites of membrane injury in myotubes, indicating mini-dysferlinC72 may function directly at sites of injury. Finally, I have shown that calpains also cleave otoferlin and myoferlin. Cleavage of other ferlins indicates ferlin cleavage is an evolutionarily conserved event, predating the split between type-I and type-II ferlins
A systematic review on diagnostic test accuracy of magnetic resonance neurography versus clinical neurosensory assessment for post-traumatic trigeminal neuropathy in patients reporting neurosensory disturbance
Objectives: To perform a systematic review of published studies on diagnostic accuracy of magnetic resonance neurography (MRN) vs clinical neurosensory testing (NST) for post-traumatic trigeminal neuropathy (PTTN) in patients reporting neurosensory disturbances (NSD).
Methods: Human studies except case reports, reviews, systematic reviews and meta-analyses were included. PubMed, Embase, Web of Science and Cochrane Library were consulted. Risk of bias assessment was conducted using the Quality Assessment of Diagnostic Accuracy Studies 2 tool. Predetermined data extraction parameters were noted and summarized.
Results: 8 studies met eligibility criteria of which 7 were retrospective, representing 444 subjects. Most studies were at high risk of bias with low applicability concerns. Populations and objectives were divergent with a large variation in timing (3 days-17 years post injury) and parameters (multiple coil designs, fat suppression techniques, additional contrast agent) of MRI acquisition. T-2 weighted 3 T imaging with short echo times (2.2-100 ms) and fat suppression was applied in seven studies, techniques varied. Determination of sensitivity and specificity could not be performed due to the methodological variation between studies and lacking comparative data between index and reference tests. Based on limited data, PTTN correlated reasonably well between clinical assessment, intraoperative findings and MRN abnormalities (k = 0.57). Increased signal intensity correlated with persistency of neurosensory disturbances in one study. Intra- (ICC 0.914-0.927) and interobserver (k = 0.70-0.891) MRN variability was considered good to excellent. One retrospective study showed substantial impact of MRN on clinical decision making in one-third of patients.
Conclusion: Currently, there is insufficient scientific knowledge to support or refute the use of MRN. Based on limited data, MRN seems promising and reliable in detection and grading of PTTN. Methodological issues underline the importance for prospective blinded studies with standardization of signal intensity calculation and rigorous reporting of MRI acquisition parameters
Cochlear erosion due to a facial nerve schwannoma
Facial nerve schwannomas are rare benign neoplasms. We report a case of a 60-year-old woman who initially presented with vestibular complaints. Magnetic resonance imaging (MRI) revealed a facial nerve schwannoma centered on the right geniculate ganglion extending in the labyrinthine segment. The patient consulted again after 2 months because she developed a sudden and severe right-sided sensorineural hearing loss. MRI showed no progression or pathological enhancement in the membranous labyrinth. A cone beam computed tomography (CT) of the temporal bone was performed and revealed a large erosion at the region of the geniculate ganglion in open communication with the middle turn of the cochlea. This case report demonstrates the importance of CT in facial nerve schwannomas for evaluating the impact on the surrounding structures
Stage shift and relative survival for head and neck cancer during the 2020 COVID-19 pandemic: a population-based study of temporal trends
ObjectiveDuring the first wave of the COVID-19 pandemic in 2020, non-essential health services were suspended in Belgium, and the public was ordered to socially isolate. Underdiagnosis of cancer during this period was reported worldwide. Certain risk factors for head and neck cancer (HNC) overlap with those for COVID-19 incidence and mortality, making underdiagnosis and subsequent stage shift of this potentially rapidly progressing cancer a major concern. We aimed to analyze incidence, clinical stage at presentation, and survival of patients diagnosed with HNC in 2020 in Belgium, considering recent temporal trends.MethodsUsing population-based data from the Belgian Cancer Registry (BCR), we extrapolated 2017-2019 trends in incidence, clinical stage, and 1-year relative survival (1yRS) of HNC to create an expected value for 2020 and compared this to the observed value.ResultsThere were 9.5% fewer HNCs diagnosed in 2020, compared to the predicted incidence. Underdiagnosis was larger for males (-11.8%), patients aged 50-64 (-11.2%) and 65-79 (-11.1%), and for oral cavity cancer (-17.6%). Shifts to more advanced stages were observed in larynx and oropharynx tumors and for (male) patients aged 80+. A 2.4 percentage point decline in 1yRS was observed, relative to the increasing trends in 1yRS (2017-2019).ConclusionThe COVID-19 pandemic led to underdiagnosis of HNC, resulting in shifts to more advanced stage at presentation in certain subgroups. A stage shift can be expected for the 9.5% of tumors not yet diagnosed at the end of 2020. HNC patients diagnosed in 2020 suffered higher than expected mortality
JWST reveals a possible galaxy merger in triply-lensed MACS0647JD
MACS0647JD is a triply-lensed galaxy originally discovered with
the Hubble Space Telescope. Here we report new JWST imaging, which clearly
resolves MACS0647JD as having two components that are either merging
galaxies or stellar complexes within a single galaxy. Both are very small, with
stellar masses and radii . The brighter
larger component "A" is intrinsically very blue (), likely due
to very recent star formation and no dust, and is spatially extended with an
effective radius . The smaller component "B" appears redder
(), likely because it is older () with mild dust
extinction (), and a smaller radius . We
identify galaxies with similar colors in a high-redshift simulation, finding
their star formation histories to be out of phase. With an estimated stellar
mass ratio of roughly 2:1 and physical projected separation ,
we may be witnessing a galaxy merger 400 million years after the Big Bang. We
also identify a candidate companion galaxy C away, likely
destined to merge with galaxies A and B. The combined light from galaxies A+B
is magnified by factors of 8, 5, and 2 in three lensed images JD1, 2, and
3 with F356W fluxes , , (AB mag 25.1, 25.6, 26.6).
MACS0647JD is significantly brighter than other galaxies recently discovered
at similar redshifts with JWST. Without magnification, it would have AB mag
27.3 (). With a high confidence level, we obtain a photometric
redshift of based on photometry measured in 6 NIRCam filters
spanning , out to rest-frame. JWST NIRSpec
observations planned for January 2023 will deliver a spectroscopic redshift and
a more detailed study of the physical properties of MACS0647JD.Comment: 27 pages, 14 figures, submitted to Natur
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