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Background: We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation: A 35-year-old Chinese male patient presented with a history of progressive finger weakness. Physical examination revealed differential finger extension weakness, together with predominant finger abduction, elbow flexion, ankle dorsiflexion and toe extension weakness. Muscle MRI showed disproportionate fatty infiltration of the glutei, sartorius and extensor digitorum longus muscles without significant wasting. Muscle biopsy and ultrastructural examination showed a non-specific myopathic pattern without nemaline or cap inclusions. Genetic sequencing revealed a novel heterozygous p.Ser246Leu variant (c.737C>T) of the TPM3 gene which is predicted to be pathogenic. This variant is located in the area of the TPM3 gene where the protein product interacts with actin at position Asp25 of actin. Mutations of TPM3 in these loci have been shown to alter the sensitivity of thin filaments to the influx of calcium ions. Conclusion: This report further expands the phenotypic spectrum of myopathies associated with TPM3 mutations, as mutations in TPM3 had not previously been reported with adult-onset distal myopathy. We also discuss the interpretation of variants of unknown significance in patients with TPM3 mutations and summarise the typical muscle MRI findings of patients with TPM3 mutations. [ABSTRACT FROM AUTHOR]

Background: Mucormycosis is a rare, rapidly progressing opportunistic fungal infection which came into a sudden limelight during the second wave of COVID-19 in India. Aims and Objective: The present study was conducted to evaluate the knowledge, attitude, and practice assessment of oral mucormycosis among dentists in tri-city (Chandigarh, Panchkula, and Mohali) after COVID-19. Materials and Methods: A cross-sectional, web-based survey was carried out among 150 dentists with a response rate of 87.3%. The survey consisted of 15 questions pertaining to knowledge and attitude, whereas a third section of questions regarding practices based on their encounter of attending mucormycosis patients. To ensure maximum participation, snowball and convenience sampling were utilized, and the results were analyzed by descriptive statistics. Results: Dentists demonstrated a decent knowledge about oral mucormycosis, but there was still a lack of awareness pertaining to reasons for developing mucormycosis after COVID and its correlation with COVID-19’s variant. The study participants revealed coherent opinions about most questions except the diagnostic methods. A very few dentists attended to mucormycosis patients in their clinical practice. Conclusion: Overall, the current work reported the knowledge and clinical experience of the dentists regarding COVID-19-associated mucormycosis and emphasizes on improving the knowledge and awareness of dentists in this area for better management of such cases with diligent diagnostic and therapeutic interventions. [ABSTRACT FROM AUTHOR]

Charcot-Marie-Tooth type 1A (CMT1A) is typically characterised as a childhood-onset, symmetrical, length-dependent polyneuropathy with a gradual progressive clinical course. Acute to subacute neurological deterioration in CMT1A is rare, and has been reported secondary to overlap pathologies including inflammatory neuropathy. We identified two patients with CMT1A who presented with acute to subacute, atraumatic, entrapment neuropathies as an initial symptom. A superimposed inflammatory neuropathy was excluded. Both patients had a diffuse demyelinating polyneuropathy, with markedly low motor nerve conduction velocities (<20 m/s). In both patients, we demonstrated symptomatic and asymptomatic partial conduction blocks at multiple entrapment sites. Nerve ultrasound findings in our patients demonstrated marked diffuse nerve enlargement, more pronounced at non-entrapment sites compared to entrapment sites. We discuss ways to distinguish this condition from its other differentials. We propose pathophysiological mechanisms underlying this condition. We propose that CMT1A with acute to subacute, atraumatic, entrapment neuropathies to be a distinct phenotypic variant of CMT1A. [ABSTRACT FROM AUTHOR]

Aim: As part of a program of work to develop an educational strategy and implementation plan for the World Stroke Organization, we conducted a survey of World Stroke Organization members (health professionals, laypersons (Stroke Support Organizations)) to identify their potential educational needs. Methods: We developed a questionnaire to identify priority educational needs in consultation with the World Stroke Organization Education Committee. The World Stroke Organization invited all individual members and associated Stroke Support Organizations to complete the questionnaire via a web-based survey. Survey responses were supplemented by questionnaires emailed directly to key persons in Stroke Support Organizations and information from semi-structured telephone interviews, where necessary. The questionnaire asked respondents to prioritize topics in diagnosis, management of acute stroke, stroke care services, stroke rehabilitation, and stroke prevention. Free-text responses were assessed with word cloud. Results: The online survey was completed by 264 respondents from 60 countries; 19.1% were from low- and middle-income countries, 59% were stroke specialist physicians, 28% allied health professionals or nurses, 9% Stroke Support Organizations, 4% general physicians. Fifteen Stroke Support Organizations from 11 countries responded to the emailed survey. Seven Stroke Support Organizations' members were interviewed by telephone; one was interviewed in-person. We highlight the two highest priority topics in each of the five questionnaire domains. Conclusion: The 10 priority topics were all applicable in a low- or middle-income setting: setting up and delivering stroke diagnosis, treatment, rehabilitation and prevention services, and emphasized the most basic elements of care. The survey participants have identified a number of key topics that merit inclusion in stroke teaching materials and courses, especially those aimed at practitioners working in resource-limited settings. [ABSTRACT FROM AUTHOR]

Background: Despite promising epidemiological data, it remains unclear if increased blood pressure variability is associated with death after acute ischemic stroke. Our objective was to examine this association in a large cohort of acute ischemic stroke patients. Methods:We conducted a retrospective analysis of anonymized, pooled, participant data from the Virtual International Stroke Trial Archive. We included patients with a 90-day modified Rankin Scale and blood pressure readings in the 24 h after study enrollment. The exposure was blood pressure variability during the day after study enrollment, calculated for the systolic and diastolic blood pressure using six statistical methodologies. The primary outcome was death within 90 days of stroke onset. Results: Our cohort comprised 1891 patients of whom 277 (14.7%) died within 90 days. All indices of blood pressure variability were higher in patients who died, but the difference was more pronounced for systolic than diastolic blood pressure variability (systolic standard deviation for alive versus dead patients = 13.4 versus 15.9 mmHg, p<0.001). Similar results were found in logistic regression models fit to the outcome of death, but only systolic blood pressure variability remained significant in adjusted models (Odds Ratio for death when comparing highest to lowest tercile of systolic blood pressure variability = 1.41-1.89, p<0.03 for all). Conclusions and relevance: These results reinforce prior studies that found increased blood pressure variability is associated with worse neurologic outcome after stroke. These data should help guide research on blood pressure variability after stroke and advocate for the inclusion of death as a clinical outcome in future studies that therapeutically reduce blood pressure variability. [ABSTRACT FROM AUTHOR]

We aimed to elucidate characteristics of beriberi neuropathy (BB) in a general hospital (GH) setting. Nerve conduction studies (NCS), cross‐referenced with clinical records of patients admitted to a GH (May 2011‐July 2017), were reviewed for diagnosis of BB. Thirteen patients (age range 23‐64 years; five women) were diagnosed with BB. Eleven were incarcerated (2‐24 months) at time of index event. Eleven reported prior, severe anorexia (2‐6 months); five reported significant weight loss, three had recurrent vomiting, and three reported alcohol misuse. Commonest presentation was weakness (12/13); nine had symptom evolution over ≥3 weeks. At nadir, 11/13 could not walk independently. Other features included numbness/paraesthesiae (10/13), dysautonomia (6/13), vocal cord dysfunction/dysphagia (4/13), nystagmus (3/13). Pain was not prominent. Cerebrospinal fluid, tested in five patients, was acellular; one showed mildly increased protein. NCS showed predominantly sensorimotor, axonal polyneuropathy, rarely asymmetric. Only one patient had sural‐sparing pattern. All received high dose thiamine. Two of the thirteen received intravenous immunoglobulin for suspicion of Guillain‐Barré syndrome (GBS). Eleven improved to independent ambulation. One patient died from pulmonary embolism; one was lost to follow‐up. Two of the thirteen had residual neurocognitive effects; both misused alcohol. Besides GBS, BB is an important cause of acute to subacute flaccid paralysis, especially in incarcerated patients and those with significant dietary deprivation. Features favoring BB over GBS are ≥3 weeks of symptoms, nystagmus, confusion, vocal cord dysfunction, volume overload, normal spinal fluid, elevated lactate, and absence of sural‐sparing pattern in NCS. [ABSTRACT FROM AUTHOR]

Background: Specialist training provides skilled workforce for service delivery. Stroke medicine has evolved rapidly in the past years. No prior information exists on background or training of stroke doctors globally. Aims: To describe the specialties that represent stroke doctors, their training requirements, and the scientific organizations ensuring continuous medical education. Methods: The World Stroke Organization conducted an expert survey between June and November 2014 using emailed questionnaires. All Organization for Economic Co-operation and Development countries with >1 million population and other countries with >50 million population were included (n=49, total 5.6 billion inhabitants, 85% of global strokes). Two stroke experts from each selected country were surveyed, discrepancies resolved, and further information on identified stroke-specific curricula sought. Results: We received responses from 48 (98%) countries. Of ischemic stroke patients, 64% were reportedly treated by neurologists, ranging from 5% in Ireland to 95% in the Netherlands. Per thousand annual strokes there were average six neurologists, ranging from 0.3 in Ethiopia to 33 in Israel. Of intracerebral hemorrhage patients, 29% were reportedly treated by neurosurgeons, ranging from 5% in Sweden to 79% in Japan, with three neurosurgeons per thousand strokes, ranging from 0.1 in Ethiopia to 24 in South Korea. Most countries had a stroke society (86%) while only 10 (21%) had a degree or subspecialty for stroke medicine. Conclusions: Stroke doctor numbers, background specialties, and opportunities to specialize in stroke vary across the globe. Most countries have a scientific society to pursue advancement of stroke medicine, but few have stroke curricula. [ABSTRACT FROM AUTHOR]

Background: Education in stroke is relevant to stroke survivors, clinicians, care providers, and healthcare system administrators and is of special importance in resource-limited settings. The World Stroke Organization Education Committee undertook a program of work, culminating in a focused workshop, to establish the key educational priorities, and work toward maximizing the WSOs impact on the global burden of stroke. Methods: A facilitated workshop took place during the World Stroke Congress in Montreal, Canada in October 2018. The workshop was developed using opinions on priority topics for World Stroke Organization educational activities obtained from web-based surveys of World Stroke Organization Members, supplemented by interviews with international stroke support organizations. The workshop included over 50 international participants, selected to represent a balance of age, gender, geographical region, and different levels of health resources. Participants also included members of the World Stroke Organization Education Committee, the World Stroke Academy, stroke support organizations, and the International Journal of Stroke editorial board. The workshop focused on understanding more about educational needs (at all levels), with emphasis on resource-limited settings. Three broad questions were posed: (1) What are the key educational needs: (a) in your region, (b) from your perspective (e.g. stroke support organization)? (2) Do the current educational activities offered by World Stroke Organization and WSA meet your needs? (3) What could World Stroke Organization/World Stroke Academy offer in your region that would meet your needs? The facilitated discussions were recorded, and the results transcribed and summarized by members of the World Stroke Organization Education Committee. Results: Five key needs were identified: 1. Collaborative interdisciplinary, training in both stroke care and how to advocate for stroke. 2. Educational materials provided in a wider range of formats that could be adapted to local circumstances and clinical practices. 3. Educational activities for healthcare providers and stroke support organizations organized regionally, with the World Stroke Organization providing organizational support, and a pool of experts, therapists, nurses, etc. to deliver locally relevant materials. 4. Clear and authoritative online resources, where it is easy to find key policy and protocol guidance. 5. A range of online interactive education and training resources to help build knowledge and competence in stroke care. Conclusion: The results of the workshop have been presented to the World Stroke Organization Board and will be used to help to guide the educational initiatives of the World Stroke Organization and World Stroke Academy going forward. [ABSTRACT FROM AUTHOR]

The Diagnostic and Statistical Manual of Mental Disorders ‐ Fifth Edition (DSM‐5) describes chills (cold) or heat sensations as one of the presenting manifestations of panic attacks. Here the authors describe a case of limbic encephalitis where the presenting feature of chills and piloerection led to an initial incorrect diagnosis of anxiety disorder. [ABSTRACT FROM AUTHOR]

Subcortical vascular cognitive impairment (sVCI) is caused by lacunar infarcts or extensive and/or diffuse lesions in the white matter that may disrupt the white matter circuitry connecting cortical and subcortical regions and result in the degeneration of neurons in these regions. This study used structural magnetic resonance imaging (MRI) and high angular resolution diffusion imaging (HARDI) techniques to examine cortical thickness, subcortical shapes, and white matter integrity in mild vascular cognitive impairment no dementia (VCIND Mild) and moderate-to-severe VCI (MSVCI). Our study found that compared to controls ( n = 25), VCIND Mild ( n = 25), and MSVCI ( n = 30) showed thinner cortex predominantly in the frontal cortex. The cortex in MSVCI was thinner in the parietal and lateral temporal cortices than that in VCIND Mild. Moreover, compared to controls, VCIND Mild and MSVCI showed smaller shapes (i.e., volume reduction) in the thalamus, putamen, and globus pallidus and ventricular enlargement. Finally, compared to controls, VCIND Mild, and MSVCI showed an increased mean diffusivity in the white matter, while decreased generalized fractional anisotropy was only found in the MSVCI subjects. The major axonal bundles involved in the white matter abnormalities were mainly toward the frontal regions, including the internal capsule/corona radiata, uncinate fasciculus, and anterior section of the inferior fronto-occipital fasciculus, and were anatomically connected to the affected cortical and subcortical structures. Our findings suggest that abnormalities in cortical, subcortical, and white matter morphology in sVCI occur in anatomically connected structures, and that abnormalities progress along a similar trajectory from the mild to moderate and severe conditions. Hum Brain Mapp 35:2320-2332, 2014. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Background: Previous studies have assessed the association between ankle-brachial index (ABI) and cognition, mainly using brief cognitive tests. We investigated whether ABI was associated with cognition independent of neuroimaging markers of cerebrovascular disease. Methods: Chinese subjects (n = 278, aged ≥60 years) were recruited from the ongoing Epidemiology of Dementia in Singapore (EDIS) Study. Ankle and brachial blood pressures were measured, and low ABI was defined as ≤0.9. A neuropsychological battery was utilized to determine cognition. Cognitive impairment no dementia (CIND) and dementia were diagnosed according to standard diagnostic criteria. Magnetic resonance imaging (MRI) was used to obtain semiquantitative and quantitative markers of cerebrovascular disease and atrophy. Results: A low ABI was related to the presence of intracranial stenosis (odds ratio, OR = 1.71; 95% confidence interval, CI: 1.13-2.59), but not with the presence of infarcts, microbleeds or grey matter, white matter and white matter lesion volumes. Furthermore, a low ABI was associated with poorer overall cognitive function and CIND-moderate/dementia (OR = 2.26; 95% CI: 1.11-4.59), independent of cardiovascular risk factors, and the MRI markers related to cerebrovascular disease and atrophy. Conclusion: We found an association between a low ABI and cognitive impairment, independent of any MRI marker of cerebral small vessel disease or large artery atherosclerotic disease. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background:We examined the discriminant validity of the Montreal Cognitive Assessment (MoCA) and the Mini-Mental State Examination (MMSE) in detecting multiple-domain mild cognitive impairment (md-MCI) in a Chinese sub-sample drawn from elderly population-based study.Methods:This study included Chinese participants from the Epidemiology of Dementia in Singapore (EDIS) study aged ≥ 60 years who underwent cognitive screening with the Abbreviated Mental Test and Progressive Forgetfulness Questionnaire. Screen-positive participants subsequently underwent MoCA, MMSE, and a comprehensive formal neuropsychological battery. MCI was defined by Petersen's criteria and further classified into single-domain MCI (sd-MCI) and md-MCI. Area under the receiver operating characteristic curve (AUC) with 95% confidence intervals (CIs) was computed for the MoCA and the MMSE in detecting md-MCI.Results:A total of 300 participants were recruited: 128 (42.7%) were diagnosed with no cognitive impairment (NCI), 47 (15.7%) with sd-MCI, and 83 (28.0%) with md-MCI. Forty-one participants were excluded, 7 (2.3%) had dementia, and 34 (11.3%) had only objective cognitive impairment without subjective complaints. Although the MoCA had a significantly larger AUC than the MMSE (0.94 (95% CI = 0.91–0.97) vs. 0.91 (95% CI = 0.86–0.95), p= 0.04), at optimal cut-off points, the MoCA (19/20) was equivalent to the MMSE (25/26) in detecting md-MCI (sensitivity: 0.80 vs. 0.87, specificity: 0.92 vs. 0.80).Conclusion:Both screening tests had good discriminant validity and can be used in detecting md-MCI in a sub-sample of Chinese drawn from a population-based study. [ABSTRACT FROM PUBLISHER]

Objective To study the prevalence of and associated factors for cognitive impairment and dementia in community dwelling Chinese from Singapore. Methods This study includes Chinese subjects from the Epidemiology of Dementia in Singapore (EDIS) study, aged ≥60 years, who underwent comprehensive examinations, including cognitive screening with the locally validated Abbreviated Mental Test and Progressive Forgetfulness Questionnaire. Screen positive participants subsequently underwent extensive neuropsychological testing and cerebral MRI. Cognitive impairment no dementia (CIND) and dementia were diagnosed according to internationally accepted criteria. The prevalence of cognitive impairment and dementia were computed per 5 year age categories and gender. To examine the relationship between baseline associated factors and cognitive impairment, we used logistic regression models to compute odd ratios with 95% CI. Results 1538 Chinese subjects, aged ≥60 years, underwent cognitive screening: 171 (15.2%) were diagnosed with any cognitive impairment, of whom 84 were CIND mild, 80 CIND moderate and seven had dementia. The overall age adjusted prevalence of CIND mild was 7.2%; CIND moderate/dementia was 7.9%. The prevalence increased with age, from 5.9% in those aged 60-64 years to 31.3% in those aged 75-79 years and 44.1% in those aged ≥80 years. Multivariate analysis revealed age, diabetes and hyperlipidaemia to be independently associated with cognitive impairment. Conclusions In present study, the overall prevalence of cognitive impairment and dementia in Chinese was 15.2%, which is in the same range as the prevalence reported in Caucasian and other Asian populations. [ABSTRACT FROM AUTHOR]

Worldwide, non-contrast computed tomography (NCCT) has been the imaging modality of choice in acute stroke, primarily due to its accessibility and short acquisition time. However, magnetic resonance imaging (MRI), specifically diffusion-weighted imaging (DWI), is much more sensitive to hyperacute ischemic changes. Multimodal MRI studies provide significantly more pathophysiological and prognostic information than NCCT. Finally, perfusion-weighted MRI permits visualization of the extent of the ischemic penumbra in individual patients. MRI-based penumbral imaging appears to be the most promising approach to expanding the thrombolysis population base to include patients with prolonged symptoms. This article describes advances in MRI techniques and their application to acute stroke management. [ABSTRACT FROM AUTHOR]

Neuroimaging is fundamental to stroke diagnosis and management. Non-contrast computed tomography (NCCT) has been the primary imaging modality utilized for this purpose for almost four decades. Although NCCT does permit identification of intracranial hemorrhage and parenchymal ischemic changes, insights into blood vessel patency and cerebral perfusion are limited. Advances in reperfusion strategies have made identification of potentially salvageable brain tissue a more practical concern. Advances in CT technology now permit identification of acute and chronic arterial lesions, as well as cerebral blood flow deficits. This review outlines principles of advanced CT image acquisition and its utility in acute stroke management. [ABSTRACT FROM AUTHOR]

Toxic leucoencephalopathy (TLE) is a rare neurological complication of heroin abuse. 'Chasing the dragon' is an inhalational mode of heroin abuse that originated in Southeast Asia. Intriguingly, no cases of TLE have been reported from this region, although the inhalational mode of heroin abuse is common. We herein report the case of a middle-aged man with a history of polysubstance abuse who presented with progressive neurological symptoms and progressed to an uncommunicative state. While the initial impression was that of iatrogenic parkinsonism, diffuse leucoencephalopathy with sparing of the cerebellum was noted on magnetic resonance imaging. In view of his history of inhalational heroin abuse close to the onset of the neurological symptoms, a diagnosis of TLE was made. No clinical improvement was noted with administration of a dopaminergic agent. This is the first known case of delayed TLE following heroin inhalation from Southeast Asia with the unusual feature of cerebellar sparing. [ABSTRACT FROM AUTHOR]

Central pontine myelinolysis (CPM) is classically described as a demyelinating condition that results from the rapid correction of hyponatraemia. CPM has also been reported to arise from hyperglycaemia in association with concomitant acidosis, hypernatraemia and hyperosmolar syndrome. Herein, we report a rare presentation of CPM, which was purely secondary to hyperosmolar hyperglycaemia. The patient presented with ataxia and pseudobulbar affect, which evolved subacutely over a duration of two weeks. It is important to note that, in addition to acute changes in osmolality, a subacute shift secondary to hyperglycaemia may also lead to CPM. [ABSTRACT FROM AUTHOR]

Chronic relapsing inflammatory optic neuropathy (CRION) is a recently described recurrent optic neuropathy which is steroid responsive. Several features distinguish this entity from optic neuritis associated with demyelinating disorders and connective tissue diseases. The severe degree of visual loss, persistence of pain after onset of visual loss, and recurrent episodes are unique to this disorder. We describe here a patient who presented with recurrent episodes of painful visual loss, followed by resolution of deficits, over a period of ten years. He was diagnosed as isolated optic neuritis conforming to features of CRION. [ABSTRACT FROM AUTHOR]

A mobile plaque in the carotid artery is an uncommon entity, usually detected incidentally on a carotid duplex scan or angiography. It is associated with an indeterminate risk of an embolic stroke and should be managed on an emergent basis. We report here a case of a mobile plaque in the internal carotid artery that was detected serendipitously in a carotid duplex scan. [ABSTRACT FROM AUTHOR]

Reversible cerebral vasoconstriction syndromes (RCVS) are a group of disorders that have in common an acute presentation with headache, reversible vasoconstriction of cerebral arteries, with or without neurological signs and symptoms. In contrast to primary central nervous system vasculitis, they have a relatively benign course. We describe here a patient who was diagnosed with RCVS. [ABSTRACT FROM AUTHOR]

Reversible cerebral vasoconstriction syndromes (RCVS) are a group of disorders that have in common an acute presentation with headache, reversible vasoconstriction of cerebral arteries, with or without neurological signs and symptoms. In contrast to primary central nervous system vasculitis, they have a relatively benign course. We describe here a patient who was diagnosed with RCVS. [ABSTRACT FROM AUTHOR]

A response by doctors Monica Saini and Dheraj Khurana to a letter to the editor about their article "Chronic Relapsing Inflammatory Optic Neuropathy" which appeared in a 2010 issue is presented.

The article discusses the case of a 25-year-old woman who had a left foot drop wasting of left hamstrings and calf and fibrotic scarring in bilateral gluteal regions. It notes that the woman had undergone cholecystectomy for abdominal pain in the past, and had been injecting pentazocine intramuscularly in a dose of 15-30 mg/day in the gluteal region on both sides. It cites that the symptoms in the patient favor a compression neuropathy rather than injection injury.