Project description:Moyamoya disease is a chronic progressive cerebrovascular disease characterized by bilateral occlusion or stenosis of arteries around circle of Willis. We report a case of 18-year-old female presented with recurrent episodes of headache and vertigo. On cerebral angiography, the patient was diagnosed to have moyamoya disease. On further evaluation, thrombophilia profile showed increased homocysteine level. The patient was treated conservatively with cobalamin and aspirin and advised for revascularization. According to the literature, there are few case reports of moyamoya disease with thrombotic disorders. Hence, we are reporting this interesting and rare case.
Project description:Moyamoya disease is characterized by severe stenosis at the ends of the bilateral internal carotid arteries and the development of collateral circulation. The disease is very diverse in terms of age at onset, onset patterns, radiological findings, and genetic phenotypes. The pattern of onset is mainly divided into ischemic and hemorrhagic onsets. Recently, the opportunity to identify asymptomatic moyamoya disease, which sometimes manifests as nonspecific symptoms such as headache and dizziness, through screening with magnetic resonance imaging has been increasing. Various recent reports have investigated the associations between the clinical features of different onset patterns of moyamoya disease and the corresponding imaging characteristics. In this article, we have reviewed the natural history, clinical features, and imaging features of each onset pattern of moyamoya disease.
Project description:BackgroundThe pathogenesis of moyamoya disease (MMD) is unclear. Inflammation and immune imbalance have been identified as potential factors contributing to the occurrence and progression of MMD. However, the specific proteins and metabolites responsible for triggering this process are yet to be established. The purpose of this study is to identify differentially expressed proteins and metabolites in patients with MMD and perform Kyoto Encyclopedia of Genes and Genomes pathway integration analysis to pinpoint crucial proteins and metabolites involved in the disease.MethodsWe performed untargeted metabolomic and data-independent acquisition proteomic analyses on the serum samples of individuals with MMD and healthy controls (HC).ResultsIn patients with MMD versus HC, 24 proteins and 60 metabolites, including 21 anionic metabolites and 39 cationic metabolites, which were significantly different, were identified. In patients with MMD, several proteins involved in inflammation and immune metabolism, such as tubulin beta-6 and complement C4, were found to have significantly altered levels. Similarly, many metabolites involved in inflammation and immune metabolisms, such as dimethyl 4-hydroxyisophthalate, beta-nicotinamide mononucleotide, 2-(3-(4-pyridyl)-1H-1,2,4-triazol-5-yl)pyridine, and PC (17:1/18:2), were significantly altered. Intriguingly, these proteins and metabolites are involved in the progression of atherosclerosis through immune and inflammatory pathways, although some have never been reported in MMD. Moreover, integrated proteomics and metabolomics studies were conducted to determine shared pathways involving cholesterol metabolism, vitamin digestion, fat digestion, and absorption pathways of proteins and metabolites, which warrant further investigation.ConclusionsSignificant increases in pro-inflammatory and immunosuppressive abilities have been observed in patients with MMD, accompanied by significant reductions in anti-inflammatory and immune regulation. Various metabolites and proteins implicated in these processes have been identified for the first time. These findings hold immense significance for comprehending the pathogenesis of MMD and for the development of future drug therapies.
Project description:Experimentally inducing low subjective socioeconomic status (SSES) increases food consumption in standardized eating opportunities. Separately, food insecurity (FI) has also been shown to be associated with increased food consumption when a free eating opportunity is provided. Here, we assigned 123 adult volunteers to a low-SSES manipulation or a control condition, followed by an opportunity to consume snack foods. We measured FI prior to the experiment. Thus, our experiment served to replicate the effects of SSES and of FI on consumption, and also to establish whether these effects combine additively or interactively. The low-SSES manipulation increased food consumption, but only among participants who were food secure at baseline. Among food-insecure participants, the effect was reversed. This interaction was not predicted a priori and is presented as an exploratory finding. We also found evidence that both SSES and FI affected the hedonic evaluation of the snack foods, though the changes in evaluation did not mediate the changes in consumption. Our findings suggest that both FI and low SSES affect the consumption and evaluation of food. Their combined effects on consumption may be complex.
Project description:Chorea is a movement disorder that results from the continuous and random flow of muscle contractions leading to a dance-like appearance. The aims of this article are to define chorea, discuss its underlying causes, and provide a video demonstration of a seven-step guide on how to examine a patient with this movement disorder. This guide helps the clinician to determine the clinical features, severity, and etiology of chorea.
Project description:Hemichorea-hemiballism associated with non-ketotic hyperglycaemia is a rare dyskinetic syndrome during uncontrolled or undiagnosed diabetes. We reported a 41-year-old man suffering from sudden choreodystonic movements and undiagnosed hyperglycaemia. We described a combination of several rare aspects, emphasising the importance of screening for diabetes as a cause of acute onset of hyperkinetic movement disorders.
Project description:Adult-onset Still's disease (AOSD) is an inflammatory disorder characterized by recurrent fevers, arthralgia, leukocytosis, and a salmon-colored rash. Diagnosis is made based on the Yamaguchi criteria. Various cardiac and pulmonary manifestations have been described in association with AOSD, including acute respiratory distress syndrome (ARDS) and pulmonary arterial hypertension (PAH). We describe the first case of both PAH and ARDS in a patient with AOSD who, despite aggressive therapy, declined rapidly and ultimately died. There was concern for pulmonary veno-occlusive disease given the rate of her decompensation, but this was found not to be the case on autopsy. Treatment of AOSD with cardiopulmonary involvement requires rapid identification of AOSD followed by aggressive immunosuppression.