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Sudden Gross Visual Deterioration: Importance of Examining the Whole Eye.
A 75-year-old caucasian female presented with sudden severe visual deterioration in one eye reduced from 6/9 to counting fingers (CF), with second eye reduction in vision from 6/9 to CF three months later. Past medical history included a background of proliferative diabetic retinopathy, uncontrolled blood pressure, and a 44-year history of poorly controlled type 1 diabetes mellitus (T1DM). Previous ocular history included bilateral pan-retinal photocoagulation for proliferative diabetic retinopathy, followed by bilateral vitrectomies, with subsequent bilateral cataract surgery with intraocular lens implants. A diagnosis of anterior ischemic optic neuropathy (AION) was thought to be the most likely diagnosis due to sudden visual loss, pale discs, and previous long-term history of diabetes and blood pressure with variable control in the absence of a raised erythrocyte sedimentation rate (ESR). However, at the time of the second eye visual loss, the inferior peripheral retina examination revealed bilateral pseudophakic intraocular lens dislocations. With spectacle correction of +11.50/-1.00 x 75 right eye and +11.50/-1.00 x 65 left eye, her visual acuities were 6/12 right eye and 6/9 left eye, and subsequent secondary intraocular lens insertion was planned. This case highlights the importance of a careful review of the whole eye to ensure that remediable causes of visual loss are not missed.
IMPG2-Related Maculopathy.
PURPOSE: To investigate the phenotype, variability, and penetrance of IMPG2-related maculopathy. DESIGN: Retrospective observational case series. METHODS: Clinical evaluation, multimodal retinal imaging, genetic testing, and molecular modeling. RESULTS: A total of 25 individuals with a mono-allelic IMPG2 variant were included, 5 of whom were relatives of patients with IMPG2-associated retinitis pigmentosa. A distinct maculopathy was present in 17 individuals (median age, 52 years; range, 20-72 years), and included foveal elevation with or without subretinal vitelliform material or focal atrophy of the retinal pigment epithelium. Best-corrected visual acuity (BCVA) was ≥20/50 in the better eye (n = 15), and 5 patients were asymptomatic. Longitudinal observation (n = 8, up to 19 years) demonstrated stable maculopathy (n = 3), partial/complete resorption (n = 4) or increase (n = 1) of the subretinal material, with overall stable vision (n = 6). No manifest maculopathy was observed in 8 individuals (median age, 58 years; range, 43-83 years; BCVA ≥20/25), all were identified through segregation analysis. All 8 individuals were asymptomatic, with minimal foveal changes observed on optical coherence tomography in 3 cases. A total of 18 different variants were detected, 11 of them truncating. Molecular modeling of 5 missense variants [c.727G>C, c.1124C>A, c.2816T>A, c.3047T>C, and c.3193G>A] supported the hypothesis that these have a loss-of-function effect. CONCLUSIONS: Mono-allelic IMPG2 variants may result in haploinsufficiency manifesting as a maculopathy with variable penetrance and expressivity. Family members of patients with IMPG2-related retinitis pigmentosa may present with vitelliform lesions. The maculopathy often remains limited to the fovea and is usually associated with moderate visual impairment.
Effort-based decision making and motivational deficits in stroke patients.
Motivational deficits in patients recovering from stroke are common and can reduce active participation in rehabilitation and thereby impede functional recovery. We investigated whether stroke patients with clinically reduced drive, initiation, and endurance during functional rehabilitative training (n = 30) display systematic alterations in effort-based decision making compared to age, sex, and severity-matched stroke patients (n = 30) whose drive appeared unaffected. Notably, the two groups did not differ in self-reported ratings of apathy and depression. However, on an effort-based decision-making task, stroke patients with clinically apparent drive impairment showed intact willingness to accept effort for reward, but were more likely to fail to execute the required effort compared to patients without apparent drive impairments. In other words, the decision behavioural assessment revealed that stroke patients that displayed reduced drive, initiation, and endurance during inpatient neurorehabilitation failed to persist in goal-directed effort production, even over very short periods. These findings indicate that reduced drive during rehabilitative therapy in post-stroke patients is not due to a diminished motivation to invest physical effort, but instead is related to a reduced persistence with effortful behaviour.
Microbes without frontiers: severe haemolytic-uraemic syndrome due to E coli O104:H4.
Antibiotic use in infection with Shiga-toxin-producing strains of Escherichia coli (E coli) is thought to increase the risk of developing haemolytic-uraemic syndrome (HUS). One paediatric study concluded that E coli O157:H7-infected patients who had received antibiotic therapy were 17 times more likely to progress to HUS than those who had not. Quinolones are among those incriminated. In vitro experiments suggest toxin induction of 80-fold with ciprofloxacin and E coli O104:H4. We report here the case of a 44-year-old man returning from Hamburg who presented with a 5 day history of bloody diarrhoea which had worsened after starting ciprofloxacin. A severe illness of overlapping HUS and thrombotic thrombocytopaenic purpura (TTP) ensued, with neurological complications requiring ventilation and intensive care admission. Stool sample eventually confirmed E coli O104:H4. Although the patient made a good recovery following treatment with haemofiltration and plasma exchange with fresh frozen plasma (FFP), ciprofloxacin may have exacerbated his clinical course.
Risk Factors, Epidemiology and Treatment Strategies for Metabolic Bone Disease in Patients with Neurological Disease.
Metabolic bone disease is a major public health concern, especially when it manifests as hip fracture which carries significant morbidity and mortality. Individuals with neurological disease are at higher risk of osteopenia, osteoporosis and fragility fracture compared to age-matched controls, yet this is under-appreciated by these patients. Clinician attention to this topic is therefore of importance and should address the bone health of men as well as women, a group in whom it may be an under-recognised problem. Evidence for optimal management of bone health in neurological disease remains to be defined, but a growing literature provides some useful guidance. This review focuses on two conditions, multiple sclerosis and Parkinson's disease, where research has been active over recent years. In neuroinflammation, shared immunological pathways between bone and brain are a current domain of interest and it will be intriguing to interrogate the action of emerging immunotherapies on these dual compartments.
Abolition of lifelong specific phobia: a novel therapeutic consequence of left mesial temporal lobectomy.
Numerous imaging studies have confirmed the amygdala as prominent within a neural network mediating specific phobia, including arachnophobia. We report the case of a patient in whom arachnophobia was abolished after left temporal mesial lobectomy, with unchanged fear responses to other stimuli. The phenomenon of abolition of specific phobia after amygdala removal has not, to our knowledge, been previously reported.
Stroke: management and prevention
Acute stroke treatment requires clear protocols to rapidly triage patients – using appropriate investigations – for mechanical thrombectomy and intravenous thrombolysis. Computed tomography (CT) excludes haemorrhage, CT angiography locates the occluded vessel, and CT perfusion and perfusion magnetic resonance imaging identify viable tissue. An organized approach to stroke care in a specialist environment reduces disability and saves lives. Adoption of a ‘care bundle’ approach, including the active management of pyrexia and hyperglycaemia, and early screening for swallowing difficulties, is beneficial. Tailored secondary prevention, including assessment of the carotid arteries, is urgent as, for eligible patients, carotid endarterectomy should be done within two weeks. Anticoagulation in elderly individuals with atrial fibrillation is safer than is often assumed, and direct oral anticoagulants have changed the landscape of secondary prevention.
Cognitive decline and diabetes: a systematic review of the neuropathological correlates accounting for cognition at death
Given conflicting findings in epidemiologic studies, we determined the relative contributions of different neuropathologies to the excess risk of cognitive decline in diabetes mellitus (DM) through a systematic review of the literature. Included studies compared subjects with and without DM and reported neuropathological outcomes accounting for cognition at death. Data on Alzheimer’s disease (AD) pathology, cerebrovascular disease and non-vascular, non-AD pathology were extracted from each study. Eleven studies (n=6 prospective cohorts, n=5 retrospective post-mortem series, total n=6330) met inclusion criteria. All 11 studies quantified AD changes and 10/11 measured cerebrovascular disease: macroscopic lesions (n=9), microinfarcts (n=8), cerebral amyloid angiopathy (CAA, n=7), lacunes (n=6), white matter disease (n=5), haemorrhages (n=4), microbleeds (n=1), hippocampal microvasculature (n=1). Other pathology was infrequently examined. No study reported increased AD pathology in DM, three studies showed a decrease (n=872) and four (n= 4018) showed no difference, after adjustment for cognition at death. No study reported reduced cerebrovascular pathology in DM. Three studies (n=2345) reported an increase in large infarcts, lacunes and microinfarcts. One study found lower cognitive scores in DM compared to non-DM subjects despite similar cerebrovascular and AD-pathology load suggesting contributions from other neuropathological processes. In conclusion, lack of an association between DM and AD-related neuropathology was consistent across studies, irrespective of methodology. In contrast to AD, DM was associated with increased large and small vessel disease. Data on other pathologies such as non-AD neurodegeneration, and blood-brain-barrier breakdown were lacking. Further studies evaluating relative contributions of different neuropathologies to the excess risk of DM are needed.
Regional contribution of vascular dysfunction in white matter dementia: clinical and neuropathological insights.
The maintenance of adequate blood supply and vascular integrity is fundamental to ensure cerebral function. A wide range of studies report vascular dysfunction in white matter dementias, a group of cerebral disorders characterized by substantial white matter damage in the brain leading to cognitive impairment. Despite recent advances in imaging, the contribution of vascular-specific regional alterations in white matter dementia has been not extensively reviewed. First, we present an overview of the main components of the vascular system involved in the maintenance of brain function, modulation of cerebral blood flow and integrity of the blood-brain barrier in the healthy brain and during aging. Second, we review the regional contribution of cerebral blood flow and blood-brain barrier disturbances in the pathogenesis of three distinct conditions: the archetypal white matter predominant neurocognitive dementia that is vascular dementia, a neuroinflammatory predominant disease (multiple sclerosis) and a neurodegenerative predominant disease (Alzheimer's). Finally, we then examine the shared landscape of vascular dysfunction in white matter dementia. By emphasizing the involvement of vascular dysfunction in the white matter, we put forward a hypothetical map of vascular dysfunction during disease-specific progression to guide future research aimed to improve diagnostics and facilitate the development of tailored therapies.
The German version of the Oxford Cognitive Screen (D-OCS): Normative data and validation in acute stroke and a mixed neurological sample.
Given the frequency of stroke worldwide, tools for neuropsychological assessment of patients with acute stroke are needed to identify cognitive impairments, guide rehabilitation efforts and allow for a prognosis of outcome. However, requirements for assessment tools for acute cognitive deficits differ substantially from tests for chronic neuropsychological impairments and screening tools for suspected dementia. The Oxford Cognitive Screen (OCS) has been developed as a quick to administer neurocognitive screening for acute neurological patients providing information on various cognitive domains. It is available in different languages. The present study reports cut-off scores, parallel-test reliability and concurrent validity of the German version (D-OCS). Following standardized language adaptation and translation, the D-OCS was administered to 100 healthy individuals to generate cut-off scores (5th percentile). Subsequently, 88 neurological patients were assessed with both versions of the D-OCS as well as other tests to evaluate reliability and validity of the D-OCS subscales. In a further study, the D-OCS was compared to the MoCA test in 65 acute stroke patients revealing comparable sensitivity but also differences between both tools. The cut-off scores were comparable to other international versions of the OCS. Intraclass correlations were highly significant and document reliability of the D-OCS subtests. Scores on subtests correlated significantly with independent tests securing validity. Comparison with the MoCA revealed comparable sensitivity and specificity. The D-OCS is a reliable and valid assessment tool well suited for patients with acute stroke. Differences to the MoCA test are discussed.