One of the most common neurodevelopmental disorders worldwide is autism spectrum disorder (ASD), which is characterized by language delay, impaired communication interactions, and repetitive patterns of behavior caused by environmental and genetic factors. This review aims to provide a comprehensive survey of recently published literature on ASD and especially novel insights into excitatory synaptic transmission. Even though numerous genes have been discovered that play roles in ASD, a good understanding of the pathophysiologic process of ASD is still lacking. The protein–protein interactions between the products of NLGN, SHANK, and NRXN synaptic genes indicate that the dysfunction in synaptic plasticity could be one reason for the development of ASD. Designing more accurate diagnostic tests for the early diagnosis of ASD would improve treatment strategies and could enhance the appropriate monitoring of prognosis. This comprehensive review describes the psychotropic and antiepileptic drugs that are currently available as effective pharmacological treatments and provides in-depth knowledge on the concepts related to clinical, diagnostic, therapeutic, and genetic perspectives of ASD. An increase in the prevalence of ASD in Gulf Cooperation Council countries is also addressed in the review. Further, the review emphasizes the need for international networking and multidimensional studies to design novel and effective treatment strategies.
IntroductionSmall fiber neuropathy might be a part of typical mixed small and large fiber neuropathy, or a distinct entity, affecting exclusively small nerve fibers.ObjectivesExplore the utility of small nerve fiber testing in patients with clinical presentation suggesting small fiber neuropathy, with and without evidence for concomitant large fiber neuropathy.MethodsPatients attending the neuromuscular clinic from 2012 to 2015 with a clinical presentation suggesting small nerve fiber impairment, who had Laser Doppler flare imaging (LDIFlare) and quantitative thermal testing (QTT) were evaluated for this study. Patients with clinical or electrophysiological evidence for concomitant large fiber neuropathy were not excluded.ResultsThe sensitivities of LDIFlare, cooling and heat threshold testing were 64%, 36%, and 0% respectively for clinically highly suggestive small fiber neuropathy, 64%, 56%, and 19% respectively for mixed fiber neuropathy, and 86%, 79%, and 29% respectively for diabetic mixed fiber neuropathy.DiscussionLDIFlare and cooling thresholds testing are non-invasive small nerve fiber testing modalities, with moderate performance in patients with small and mixed fiber neuropathy, and excellent performance in diabetic mixed fiber neuropathy.
Cerebral vein and dural sinus thrombosis (CVST) is an uncommon cause of stroke, but its delayed diagnosis carries significant morbidity and mortality. Several studies have reported higher incidence of CVST than that previously reported. The clinical presentation of CVST varies and can be atypical. Advancement in neuroimaging modalities has made it possible to make an early diagnosis and initiate management with a wide range of therapeutic options, including direct oral anticoagulants and endovascular treatment. This narrative review summarizes the epidemiology, clinical aspects, diagnosis and management of CVST.
Objective:To identify the different subtypes of acute ischemic stroke, and estimate the frequency of various risk factors among these patients.Methods:In this retrospective, cross-sectional study, we reviewed the medical records of patients admitted with the diagnosis of acute ischemic stroke at King Fahd Hospital of the University, Al-Khobar, Saudi Arabia from March 2008 till December 2015. The demographic characteristics, subtypes of stroke, risk factors (hypertension, diabetes mellitus, hyperlipidemia, coronary artery disease, atrial fibrillation, valvular heart disease) and other relevant data were documented on pre-defined data sheets.Results:The records of 343 patients were included in the study; 64.4% were male and 35.6% were female. The mean age was 59.3+13.6 (mean+SD) years for males, and 66.8+14.9 years for females. Small vessel occlusion was the most common etiologic subtype of ischemic stroke (32.1%), followed by cardio embolic (21.9%), and large artery atherosclerosis (14.6%). The middle cerebral artery was the most commonly affected territory. Hypertension was found in 78.1%, diabetes mellitus in 62.7%, hyperlipidemia in 54.8%, and ischemic heart disease in 24.2% of patients.Conclusion:Small vessel occlusion was the most common etiology in our cohort. The onset of stroke at a relatively younger age group in the male population is of great concern and needs to be verified by further epidemiological studies. Adequate control of modifiable risk factors may help in reducing the disease burden caused by stroke.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.