Joachim Scholz and colleagues develop and validate an assessment tool that distinguishes between radicular and axial low back pain.
Presurgical ATG therapy lowers GH and IGF-1 concentrations, induces tumor shrinkage, and ameliorates/reverses cardiac, vascular, and sleep complications in many patients with acromegaly. However, responses vary considerably between individuals, and attainment of biochemical control cannot be assumed to equate to universal complication control.
Background An improved in vivo understanding of variations in neuropathology in the vegetative state (VS) may aid diagnosis, improve prognostication and help refine the selection of patients for particular treatment regimes. The authors have used diffusion tensor imaging (DTI) to characterise the extent and location of white matter loss in VS secondary to traumatic brain injury (TBI) and ischaemicehypoxic injury. Methods Twelve patients with VS (seven TBI, five ischaemic/hypoxic injuries) underwent MRI including DTI at a minimum of 3 months postinjury. Mean apparent diffusion coefficient, fractional anisotropy and eigenvalues were obtained for whole-brain grey and white matter, the pons, thalamus, ventral midbrain, dorsal midbrain and the corpus callosum. DTI measures of supratentorial damage were compared with a summed measure from the JFK modified Coma Recovery Scale (CRS-R) and with a three-point scale of functional magnetic resonance imaging (fMRI) response to an auditory paradigm to assess whether residual integrity of supratentorial white matter connectivity correlated with cortical processing. Results Conventional radiological approaches did not detect lesions in regions where quantitative DTI demonstrated abnormalities. There was evidence of marked, broadly similar, abnormalities in the supratentorial grey-and white-matter compartments from both aetiologies. In contrast, discordant findings were found in the infratentorial compartment, with DTI abnormalities in the brainstem confined to the TBI group. Supratentorial DTI abnormalities correlated with the CRS-R as well as responses to an fMRI paradigm that detected convert cognitive processing. Conclusions DTI may help to characterise differences in patients in VS. These findings may have implications for response to therapies, and should be taken into account in trials of interventions aimed at arousal in VS. INTRODUCTIONThe vegetative state (VS) encompasses a spectrum of patients who have emerged from coma to be awake, but show no indication of awareness. The aetiology of these clinical outcomes is varied and includes processes as disparate as traumatic brain injury (TBI), ischaemic/hypoxic injuries (IHI), intracerebral haemorrhage and infection. Modern imaging tools continue to provide more data on the neuroanatomical substrate of these conditions in vivo, and such information may be important to gain further insights into the disease process.The commonest aetiologies of VS are TBI and IHI. While it is widely accepted that both these conditions arise from either damage to the brainstem/midbrain structures and/or diffuse axonal/ cortical damage, most data come from histopathological studies. Such studies show that thalamic damage is common in the vegetative state secondary to both IHI (neuronal loss secondary to hypoxia) and TBI (retrograde thalamic degeneration and/or neuronal loss secondary to hypoxia). 2While brainstem lesions have been recognised in IHI, these appear to affect predominantly brainstem grey matter nuclei, whereas more extensiv...
Objective Variant ataxia‐telangiectasia is caused by mutations that allow some retained ataxia telangiectasia‐mutated (ATM) kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant ataxia‐telangiectasia and explore genotype‐phenotype correlations. Methods Cross‐sectional data were collected retrospectively. Patients were classified as variant ataxia‐telangiectasia based on retained ATM kinase activity. Results The study includes 57 individuals. Mean age at assessment was 37.5 years. Most had their first symptoms by age 10 (81%). There was a diagnostic delay of more than 10 years in 68% and more than 20 years in one third of probands. Disease severity was mild in one third of patients, and 43% were still ambulant 20 years after disease onset. Only one third had predominant ataxia, and 18% had a pure extrapyramidal presentation. Individuals with extrapyramidal presentations had milder neurological disease severity. There were no significant respiratory or immunological complications, but 25% of individuals had a history of malignancy. Missense mutations were associated with milder neurological disease severity, but with a higher risk of malignancy, compared to leaky splice site mutations. Interpretation Individuals with variant ataxia‐telangiectasia require malignancy surveillance and tailored management. However, our data suggest the condition may sometimes be mis‐ or underdiagnosed because of atypical features, including exclusive extrapyramidal symptoms, normal eye movements, and normal alpha‐fetoprotein levels in some individuals. Missense mutations are associated with milder neurological presentations, but a particularly high malignancy risk, and it is important for clinicians to be aware of these phenotypes. ANN NEUROL 2019;85:170–180.
BackgroundTraumatic brain injury is a major cause of morbidity and mortality worldwide. Ameliorating the neurocognitive and physical deficits that accompany traumatic brain injury would be of substantial benefit, but the mechanisms that underlie them are poorly characterized. This study aimed to use diffusion tensor imaging to relate clinical outcome to the burden of white matter injury.Methodology/Principal FindingsSixty-eight patients, categorized by the Glasgow Outcome Score, underwent magnetic resonance imaging at a median of 11.8 months (range 6.6 months to 3.7 years) years post injury. Control data were obtained from 36 age-matched healthy volunteers. Mean fractional anisotropy, apparent diffusion coefficient (ADC), and eigenvalues were obtained for regions of interest commonly affected in traumatic brain injury. In a subset of patients where conventional magnetic resonance imaging was completely normal, diffusion tensor imaging was able to detect clear abnormalities. Significant trends of increasing ADC with worse outcome were noted in all regions of interest. In the white matter regions of interest worse clinical outcome corresponded with significant trends of decreasing fractional anisotropy.Conclusions/SignificanceThis study found that clinical outcome was related to the burden of white matter injury, quantified by diffusivity parameters late after traumatic brain injury. These differences were seen even in patients with the best outcomes and patients in whom conventional magnetic resonance imaging was normal, suggesting that diffusion tensor imaging can detect subtle injury missed by other techniques. An improved in vivo understanding of the pathology of traumatic brain injury, including its distribution and extent, may enhance outcome evaluation and help to provide a mechanistic basis for deficits that remain unexplained by other approaches.
IntroductionThe Eustachian tube is a complex and inaccessible structure, which maintains middle ear ventilation to facilitate transmission of sound from the tympanic membrane to the cochlea. A renewed interest in treatments for eustachian tube dysfunction has led to a demand for methods of imaging the Eustachian tube, and assessing tube opening non-invasively. This review aims to summarise the use of imaging in the anatomical assessment of the Eustachian tube, and to explore how radiological techniques can be used to assess tube function.MethodsA systematic review of the literature was performed with narrative data analysis.ResultsWith high-resolution images, the soft and bony anatomy of the Eustachian tube can be assessed in detail. CT and MRI are best suited to identifying features associated with obstructive or patulous Eustachian tube dysfunction, though true assessments of function have only been achieved with contrast enhanced radiographs and scintigraphy. A single modality has yet to provide a complete assessment. No test has entered routine clinical use, but further development and research is underway.ConclusionSignificant information can be gained from imaging the Eustachian tube, and as faster acquisition techniques are developed, it is possible that dynamic imaging of tubal opening could play an important role in the assessment of patients with ET dysfunction.
MRI scanning without magnet removal is safe and well tolerated in NF2 patients with auditory implants. With appropriate MRI sequences, the image quality is not significantly impaired.
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