Purpose: The purpose of this study was to assess the microbiota in middle cerebral artery thrombi retrieved in mechanical thrombectomy arising out of symptomatic carotid plaque within 6 hours of acute ischemic stroke. Thrombi were subjected to next-generation sequencing for a bacterial signature to determine their role in atherosclerosis. Materials and Methods: We included 4 human middle cerebral artery thrombus samples (all patients were male). The median age for the patients was 51±13.6 years. Patients enrolled in the study from Pacific Medical University and Hospital underwent mechanical thrombectomy in the stroke window period. All patients underwent brain magnetic resonance angiography (MRA) and circle of Willis and neck vessel MRA along with the standard stroke workup to establish stroke etiology. Only patients with symptomatic carotid stenosis and tandem lesions with ipsilateral middle cerebral artery occlusion were included in the study. Thrombus samples were collected, stored at –80 degrees, and subjected to metagenomics analysis. Results: Of the 4 patients undergoing thrombectomy for diagnosis with ischemic stroke, all thrombi recovered for bacterial DNA in qPCR were positive. More than 27 bacteria were present in the 4 thrombus samples. The majority of bacteria were Lactobacillus, Stenotrophomonas, Pseudomonas, Staphylococcus, and Finegoldia. Conclusion Genesis of symptomatic atherosclerotic carotid plaque leading to thromboembolism could be either due to direct mechanisms like acidification and local inflammation of plaque milieu with lactobacillus, biofilm dispersion leading to inflammation like with pseudomonas fluorescence, or enterococci or indirect mechanisms like Toll 2 like signaling by gut microbiota.

Objective: To determine the relationship between C-reactive protein (CRP) level and the severity of dengue and the potential use of CRP in predicting acute dengue infection. Methods: A prospective observational study was performed on dengue patients admitted to a tertiary care hospital in southern India. All patients of age above 18 years, diagnosed with dengue were included in the study. The detailed laboratory parameters pertaining to dengue were recorded. CRP levels were estimated and compared between groups i.e. severe and non-severe dengue. CRP cut-off value was detected using the receiver-operator curve. Results: Totally 98 patients with a mean age of 40 years were included. Among them, 11.2% of the patients suffered from severe dengue, 54.1% of the cases had non-severe dengue without warning signs, and 34.7% had non-severe dengue with warning signs. The median CRP was significantly higher in patients with severe dengue compared to patients with non-severe dengue (96.2 mg/dL vs. 5.3 mg/dL). Univariate logistic regression analysis showed that the odd's ratio (OR) of CRP was 1.053 (P≤0.001, 95% CI=1.029-1.078). CRP at a cutoff value of 21.6 mg/L (0.929 AUC) had excellent sensitivity (100%) and specificity (81.6%) in predicting severe dengue infection. Multivariate logistic regression analysis showed that CRP (OR=1.089, P=0.013) and ALT (OR=1.010, P=0.034) were statistically significant independent predictors of dengue severity. Conclusions: CRP level could be used as a potential biomarker to predict severity of dengue in adults.

Objective: aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations. Methods: aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022. Patients underwent deep clinical phenotyping and genetic testing by whole-exome sequencing (WES). A systematic literature search was performed to identify the spectrum of previously published KMT2B-related disorders in the Asian subcontinent. Results: aaThe seven identified patients with KMT2B-related dystonia had a median age at onset of four years. The majority experienced onset in the lower limbs (n = 5, 71.4%), with generalization at a median duration of 2 years. All patients except one had complex phenotypes manifesting as facial dysmorphism (n = 4), microcephaly (n = 3), developmental delay (n = 3), and short stature (n = 1). Magnetic resonance imaging (MRI) abnormalities were present in four cases. WES revealed novel mutations in the KMT2B gene in all patients except one. Compared to the largest cohort of patients with KMT2B-related disorders, the Asian cohort, comprising 42 patients, had a lower prevalence of female patients, facial dysmorphism, microcephaly, intellectual disability, and MRI abnormalities. Protein-truncating variants were more prevalent than missense variants. While microcephaly and short stature were more common in patients with missense mutations, facial dysmorphism was more common in patients with truncating variants. Deep brain stimulation, performed in 17 patients, had satisfactory outcomes. Conclusion aaThis is the largest series of patients with KMT2B-related disorders from India, further expanding the clinico-genotypic spectrum. The extended Asian cohort emphasizes the unique attributes of this part of the world.