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Intramedullary tuberculoma (IMT) is a rare form of spinal cord tuberculosis (TB). Unlike Pott's spine, IMT is without osseous involvement and is indolent. These features may account for why the diagnosis is often overlooked as a cause of compressive myelopathy. Our case is unique in that we discuss an unusual presentation of a patient who presented with gait disturbance as the first symptom of spinal cord TB without foci of TB infection elsewhere. The patient's neurological symptoms improved with surgery and multidrug-resistant antituberculosis treatment. Although MRI is the preferred modality to characterize IMT, findings may be nonspecific, ultimately requiring biopsy. When IMT is diagnosed and managed appropriately, it carries a good prognosis. An interdisciplinary approach would provide the best outcomes.Reversible cerebral vasoconstriction syndrome (RCVS) manifests with a thunderclap headache and reversible vascular abnormalities. Red blood cell transfusions have not been well identified as a risk factor for RCVS. We report a rare case of acute brain injury resulting from RCVS after a packed red blood cell (PRBC) transfusion. A 49-year-old female with a history of menorrhagia initially presented with generalized weakness. She was found to have a hemoglobin (Hgb) of 1.7 g/dL in the setting of a fundal fibroid for which she received five units of PRBCs. Post transfusion, she complained of several days of thunderclap headache and later returned with new-onset seizures. She was admitted to the neurocritical care unit for the treatment of status epilepticus. Metabolic, infectious and toxic work-up were unremarkable except for an elevated lactate. MRI of the brain with contrast showed extensive bilateral hemispheric and cerebellar white matter T2-weighted fluid-attenuated inversion recovery (T2/FLAIR) hyperintensities with areas of enhancement. A diagnostic cerebral angiogram was performed to evaluate for a vascular etiology and revealed focal segmental stenoses in bilateral A1 segments of the anterior cerebral arteries and in branches of the bilateral middle cerebral arteries. These findings were suggestive of RCVS. Clinicians should have a high degree of suspicion for RCVS in patients presenting with neurological manifestations, such as thunderclap headache or seizures after recent transfusion. The window for injury may be longer than that seen in other organs, such as in transfusion-related acute lung injury (TRALI).Cytochrome P450 enzymes function to catalyze a wide range of reactions, many of which are critically important for drug response. Members of the human cytochrome P450 3A (CYP3A) family are particularly important in drug clearance, and they collectively metabolize more than half of all currently prescribed medications. The ability of these enzymes to bind a large and structurally diverse set of compounds increases the chances of their modulating or facilitating drug metabolism in unfavorable ways. Emerging evidence suggests that individual enzymes in the CYP3A family play discrete and important roles in catalysis and disease progression. see more Here we review the similarities and differences among CYP3A enzymes with regard to substrate recognition, metabolism, modulation by small molecules, and biological consequence, highlighting some of those with clinical significance. We also present structural perspectives to further characterize the basis of these comparisons.
The health-related quality of life (HRQL) in chronic obstructive pulmonary disease (COPD) is worsened by frequent exacerbations, and it can be affected by the concomitant presence of bronchial asthma (asthma-COPD overlap (ACO)). The impacts of clinical factors associated with HRQL have not been compared in patients with COPD and ACO experiencing exacerbations.
. Patients with COPD (
=705) and ACO (
=148) belonging to C and D groups according to GOLD 2017 were recruited in stable condition. Demographic and clinical data were collected, spirometry was performed, and patients rated the intensity of respiratory symptoms during the previous week. The COPD Assessment Test (CAT) and the EQ-5D 3 level version (dimensions and visual analogue scale (VAS)) were used to assess disease-specific and generic HRQL, respectively. Fisher's exact test,
test, ANOVA, and Pearson correlation were used for analysis (mean ± SD). Multiple linear regression was applied to identify variables related to CAT and EQ-5D VAS scxacerbations have low quality of life, which is influenced by smoking history, symptoms, and comorbidities. These findings have important implications for the development of therapeutic strategies to improve the health status of patients with these conditions.Multiple roles have been indicated for reactive oxygen species (ROS) in the immune system in recent years. ROS have been extensively studied due to their ability to damage DNA and other subcellular structures. Noticeably, they have been identified as a pivotal second messenger for T-cell receptor signaling and T-cell activation and participate in antigen cross-presentation and chemotaxis. As an agent with direct toxic effects on cells, ROS lead to the initiation of the autoimmune response. Moreover, ROS levels are regulated by antioxidant systems, which include enzymatic and nonenzymatic antioxidants. Enzymatic antioxidants include superoxide dismutase, catalase, glutathione peroxidase, and glutathione reductase. Nonenzymatic antioxidants contain vitamins C, A, and E, glutathione, and thioredoxin. Particularly, cellular antioxidant systems have important functions in maintaining the redox system homeostasis. This review will discuss the significant roles of ROS generation and antioxidant systems under normal conditions, in the immune system, and pathogenesis of multiple sclerosis.Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterised by the loss of upper and lower motor neurons resulting in paralysis and eventual death. Approximately 10% of ALS cases have a family history of disease, while the remainder present as apparently sporadic cases. Heritability studies suggest a significant genetic component to sporadic ALS, and although most sporadic cases have an unknown genetic aetiology, some familial ALS mutations have also been found in sporadic cases. This suggests that some sporadic cases may be unrecognised familial cases with reduced disease penetrance in their ancestors. A powerful strategy to uncover a familial link is identity-by-descent (IBD) analysis, which detects genomic regions that have been inherited from a common ancestor. IBD analysis was performed on 83 Australian familial ALS cases from 25 families and three sporadic ALS cases, each of whom carried one of three SOD1 mutations (p.I114T, p.V149G and p.E101G). We defined five unique 350-SNP haplotypes that carry these mutations in our cohort, indicative of five founder events.
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