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1.
Front Neurol ; 15: 1302298, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38385041

RESUMO

Background: Posterior cerebral circulation ischemic stroke (PCS) comprises up to 25% of all strokes. It is characterized by variable presentation, leading to misdiagnosis and morbidity and mortality. We aim to describe PCS in large multiethnic cohorts. Methods: A retrospective review of a large national stroke database from its inception on the 1st of January 2014 till 31 December 2020. Incidence per 100,000 adult population/year, demographics, clinical features, stroke location, and outcomes were retrieved. We divided the cohort into patients from MENA (Middle East and North Africa) and others. Results: In total, 1,571 patients were identified. The incidence of PCS was observed to be rising and ranged from 6.3 to 13.2/100,000 adult population over the study period. Men were 82.4% of the total. The mean age was 54.9 ± 12.7 years (median 54 years, IQR 46, 63). MENA patients comprised 616 (39.2%) while others were 954 (60.7%); of these, the majority (80.5%) were from South Asia. Vascular risk factors were prevalent with 1,230 (78.3%) having hypertension, 970 (61.7%) with diabetes, and 872 (55.5%) having dyslipidemia. Weakness (944, 58.8%), dizziness (801, 50.5%), and slurred speech (584, 36.2%) were the most commonly presenting symptoms. The mean National Institute of Health Stroke Score (NIHSS) score was 3.8 ± 4.6 (median 3, IQR 1, 5). The overall most frequent stroke location was the distal location (568, 36.2%). The non-MENA cohort was younger, less vascularly burdened, and had more frequent proximal stroke location (p < 0.05). Dependency or death at discharge was seen in 39.5% and was associated with increasing age, and proximal and multilocation involvement; while at 90 days it was 27.4% and was associated with age, male sex, and having a MENA nationality (p < 0.05). Conclusion: In a multiethnic cohort of posterior circulation stroke patients from the MENA region and South Asia, we noted a rising incidence over time, high prevalence of vascular risk factors, and poor outcomes in older men from the MENA region. We also uncovered considerable disparities between the MENA and non-MENA groups in stroke location and outcome. These disparities are crucial factors to consider when tailoring individualized patient care plans. Further research is needed to thoroughly investigate the underlying reasons for these variations.

2.
Diseases ; 12(1)2023 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-38248358

RESUMO

Published reports from the CDC's Autism and Development Disabilities Monitoring Networks have shown that an average of 1 in every 44 (2.3%) 8-year-old children were estimated to have ASD in 2018. Many of the ASDs exhibiting varying degrees of autism-like phenotypes have chromosomal anomalies in the Chr15q11-q13 region. Numerous potential candidate genes linked with ASD reside in this chromosomal segment. However, several clinical, in vivo, and in vitro studies selected one gene more frequently than others randomly and unbiasedly. This gene codes for UBE3A or Ubiquitin protein ligase E3A [also known as E6AP ubiquitin-protein ligase (E6AP)], an enzyme involved in the cellular degradation of proteins. This gene has been listed as one of the several genes with a high potential of causing ASD in the Autism Database. The gain of function mutations, triplication, or duplication in the UBE3A gene is also associated with ASDs like Angelman Syndrome (AS) and Dup15q Syndrome. The genetic imprinting of UBE3A in the brain and a preference for neuronal maternal-specific expression are the key features of various ASDs. Since the UBE3A gene is involved in two main important diseases associated with autism-like symptoms, there has been widespread research going on in understanding the link between this gene and autism. Additionally, since no universal methodology or mechanism exists for identifying UBE3A-mediated ASD, it continues to be challenging for neurobiologists, neuroscientists, and clinicians to design therapies or diagnostic tools. In this review, we focus on the structure and functional aspects of the UBE3A protein, discuss the primary relevance of the 15q11-q13 region in the cause of ASDs, and highlight the link between UBE3A and ASD. We try to broaden the knowledge of our readers by elaborating on the possible mechanisms underlying UBE3A-mediated ASDs, emphasizing the usage of UBE3A as a prospective biomarker in the preclinical diagnosis of ASDs and discuss the positive outcomes, advanced developments, and the hurdles in the field of therapeutic strategies against UBE3A-mediated ASDs. This review is novel as it lays a very detailed and comprehensive platform for one of the most important genes associated with diseases showing autistic-like symptoms. Additionally, this review also attempts to lay optimistic feedback on the possible steps for the diagnosis, prevention, and therapy of these UBE3A-mediated ASDs in the upcoming years.

3.
Cureus ; 15(8): e43017, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37674953

RESUMO

Introduction Medullary infarctions (MI) are a rare medical entity that is classified mainly as the more commonly lateral medullary infarcts (LMI) and the less common medial medullary infarcts (MMI). Lateral medullary syndrome, also known as Wallenberg syndrome, results when the medulla oblongata is affected and predominantly occurs secondary to atherosclerotic occlusion of the vertebrobasilar arteries. Previous studies have focused more on the anatomical, clinical, and topographical aspects of medullary infarcts. We describe the incidence of their presentation, radiological findings, etiology, treatment, and outcome at our comprehensive stroke center. Material and method This is a retrospective cohort study of 108 medullary stroke patients with confirmed clinical and radiological diagnoses of MI at Hamad General Hospital, Doha, between January 1, 2018 and December 31, 2020. We evaluated the electronic medical records of all stroke patients. Result During the selected period, a total of 2,912 ischemic strokes were reported. Of these, 843 (28.8%) were posterior circulation strokes. Only 108 (3.7%) patients had medullary strokes. Commonly encountered neurological features were dizziness (94.4%), limb ataxia (84.3%), dysarthria (44.4%), ipsilateral facial sensory loss (32.4%), headache (32.4%), contralateral limb sensory loss (25%), ipsilateral hemiparesis (24%), dysphagia (19.4%), and hiccups (13%). Most strokes reported were either minor (73% with National Institutes of Health Stroke Scale [NIHSS] 1-4) or moderate (26% with NIHSS 5-15). LMIs (87.9%) were the most common, followed by medial paramedian MI (10%). Twenty-five percent had extramedullary involvement, predominantly of the cerebellum (17.6%). Out of the total number of patients, 44 (40.7%) had large vessel atherosclerotic disease, followed by 41 (37.6%) whose stroke was due to small vessel disease, 15 (13.8 %) due to undetermined etiology, and 6 (5.5%) due to arterial dissection. Twenty-eight patients (25.4%) underwent 48-hour Holter monitoring, which detected atrial fibrillation in two patients (1.85%). The majority of patients (98.2%, or 106 patients) received antiplatelet therapy, while 68.5% (74 patients) received single antiplatelet therapy (SAPT), and 29.6% (32 patients) received dual antiplatelet therapy (DAPT). Noteworthy is that only 2.7% (three patients) received thrombolysis as an acute reperfusion therapy. Forty-seven percent (51 patients) were discharged home (mRS 0-2), and 51.9% (56 patients) were transferred to rehabilitation facilities. Follow-up assessments were performed at the stroke clinic for 57.4% (62) of the patients. The assessments found that 46 of the follow-up patients were functionally independent at that time (mRS 0-2). Conclusion This is the first large local study of medullary strokes to determine their frequency, presentation, etiology, treatment, and clinical outcome. Medullary strokes represent 3.7% of total ischemic strokes at our comprehensive stroke center. MI is rare and could present with a variety of neurological and non-specific symptoms that mimic common benign conditions. Prompt and early recognition with a high index of suspicion, the use of posterior NIHSS (POST-NIHSS), and urgent MRI-diffusion-weighted imaging (DWI) of the brain in acute settings can improve early diagnosis and the rate of reperfusion therapy. Further studies are needed to enable the early recognition and treatment of medullary infarcts.

4.
J R Coll Physicians Edinb ; 51(3): 269-271, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34528617

RESUMO

Isolated convexity cortical subarachnoid haemorrhage (cSAH) is a rare form of non-traumatic subarachnoid haemorrhage localised to one or few cortical sulci of the brain without involving the adjacent brain parenchyma or spreading to sylvian fissure, interhemispheric fissure, basal cisterns and ventricles. cSAH has multiple aetiologies described in medical literature. Intracranial high-grade stenosis is rarely presented as cSAH, especially in young adult patients. Patients presenting with cSAH warrant appropriate diagnostic work up to identify and treat the underlying aetiology.


Assuntos
Arteriosclerose Intracraniana , Hemorragia Subaracnóidea , Encéfalo , Hemorragia Cerebral , Humanos , Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Subaracnóidea/etiologia , Adulto Jovem
5.
Case Rep Neurol ; 13(2): 369-374, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34248571

RESUMO

The anterior choroidal artery (AChA) is a small artery commonly arising from the supraclinoid segment of the internal carotid artery (ICA). The significance of the AChA is related to its strategic supply to various important structures of the brain, such as the optic tract, the posterior limb of the internal capsule, the cerebral peduncle, the lateral geniculate body, medial temporal lobe, medial area of pallidum, and the choroid plexus [J Neurol. 1988;235:387-91]. The AChA syndrome in its complete form consists of the triad of hemiplegia, hemisensory loss, and hemianopia. However, incomplete forms are more frequent in clinical practice [Stroke. 1994;25:837-42]. Isolated infarction in the AChA territory is relatively rare. The presumed pathogenic mechanisms of AChA infarction are cardiac emboli, large-vessel atherosclerosis, dissection of the ICA, small-vessel occlusion, or other determined or undetermined causes [Stroke. 1994;25:837-42 and J Neurol Sci. 2009;281:80-4].

6.
J Am Heart Assoc ; 10(14): e020888, 2021 07 20.
Artigo em Inglês | MEDLINE | ID: mdl-34259032

RESUMO

Background The association of cardiac wall motion abnormalities (CWMAs) in patients with stroke who have major adverse cardiovascular events (MACE) remains unclear. The purpose of this study was to estimate the 50-month risk of MACE, including stroke recurrence, acute coronary events, and vascular death in patients with stroke who have CWMAs. Methods and Results We performed a retrospective analysis of prospectively collected acute stroke data (acute stroke and transient ischemic attack) over 50 months by electronic medical records. Data included demographic and clinical information, vascular imaging, and echocardiography data including CWMAs and MACE. Of a total of 2653 patients with acute stroke/transient ischemic attack, CWMA was observed in 355 (13.4%). In patients with CWMAs, the embolic stroke of undetermined source (50.7%) was the most frequent index stroke subtype and stroke recurrences (P=0.001). In multivariate Cox regression after adjustment for demographics, traditional risk, and confounding factors, CWMA was independently associated with a higher risk of MACE (adjusted hazard ratio [HR], 1.74; 95% CI, 1.37-2.21 [P=0.001]). Similarly, CWMA independently conferred an increased risk for ischemic stroke recurrence (adjusted HR, 1.50; 95% CI, 1.01-2.17 [P=0.04]), risk of acute coronary events (aHR, 2.50; 95% CI, 1.83-3.40 [P=0.001]) and vascular death (adjusted HR, 1.57; 95% CI, 1.04-2.40 [P=0.03]), in comparison to the patients with stroke without CWMA. Conclusions In a multiethnic cohort of ischemic stroke with CWMA, CWMA was associated with 1.7-fold higher risks of MACE independent of established risk factors. Embolic stroke of undetermined source was the most common stroke association with CWMA. Patients with stroke should be screened for CWMA to identify those at higher risk of MACE.


Assuntos
Ventrículos do Coração/fisiopatologia , Contração Miocárdica/fisiologia , Medição de Risco/métodos , Acidente Vascular Cerebral/complicações , Disfunção Ventricular/fisiopatologia , Feminino , Seguimentos , Ventrículos do Coração/diagnóstico por imagem , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Catar/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/fisiopatologia , Tomografia Computadorizada por Raios X , Disfunção Ventricular/epidemiologia , Disfunção Ventricular/etiologia
7.
Case Rep Neurol ; 12(2): 260-265, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33078062

RESUMO

Coronavirus disease 2019 (COVID-19) is an infectious disease caused by severe acute respiratory syndrome coronavirus 2. COVID-19-associated thrombotic events are recognized. A wide variety of neurological presentations have been recently documented. We report the first case of COVID-19 presenting with generalized seizure secondary to cerebral venous sinus thrombosis.

8.
Case Rep Neurol ; 12(3): 321-328, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33173491

RESUMO

Coronavirus disease 2019 (COVID-19) is a viral illness, caused by the novel severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2). It is currently affecting millions of people worldwide and is associated with coagulopathy, both in the venous and arterial systems. The proposed mechanism being excessive inflammation, platelet activation, endothelial dysfunction, and stasis. As an ongoing pandemic declared by WHO in March 2020, health systems worldwide are experiencing significant challenges with COVID-19-related complications. It has been noticed that patients with COVID-19 are at greater risk of thrombosis.

9.
Case Rep Neurol ; 12(3): 373-377, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33250751

RESUMO

Coronavirus disease 2019 (COVID-19) is a viral illness caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). There is worldwide emerging evidence of multisystem involvement including different neurological manifestations in COVID-19 patients. As a result, healthcare systems worldwide are not only experiencing diagnostic but also therapeutic and prognostic challenges with COVID-19-related complications. Cerebral microbleeds and leukoencephalopathy have been described in COVID-19 patients; although the mechanism remains unknown, possibilities include endotheliitis with thrombotic microangiopathy, excessive inflammation, prolonged respiratory failure, and hypoxemia. We describe here the clinical, radiological, and laboratory findings as well as the 90-day outcome of a 72-year-old gentleman who presented with severe SARS-CoV-2 infection, leading to diffuse cerebral microhemorrhages and ischemic infarct causing severe morbidity. He was tested positive for COVID-19 confirmed by reverse transcriptase polymerase chain reaction.

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