Structural insights of novel mutational frames in Bromodomain Containing-2 gene (BRD2) in juvenile myoclonic epilepsy: bed, bench, and laptop profiles.

PURPOSE: Juvenile myoclonic epilepsy (JME) is an adolescent onset type of idiopathic generalized epilepsies. Bromodomain containing protein-2 gene (BRD2), a transcriptional regulatory protein, has a susceptible role in the expression of JME. Considering the polymorphic variations observed in exon 3 of the BRD2 gene, we evaluated the molecular interactions with anti-seizure medication in individuals diagnosed with JME. METHODS: The genomic DNA was extracted from 5 mL of peripheral venous blood of JME participants (n = 55) and healthy control subjects (n = 55). Detailed anti-seizure medication and outcomes were noted during the study period. Identified novel mutations at nucleotide and protein sequences, compared by multiple sequence alignment. Wild-type (WT) and mutated-type (MT) structures were investigated for molecular docking and interactions with anti-seizure drugs. RESULTS: A common variant at c.1707G>A was found among 23 participants, while a single variant at c.1663ins C was found in one participant. The deletion positions were observed at c.1890delA, c.1892A>T, c.1895A>T, c.1896G>T, c.1897T>C, c.1898T>C, c.1899C>T, c.1900G>T, c.1901C>T and c.1902A>T exhibiting stop codon after p.111Pro>stop; these variants resulted in a truncated protein. In silico analysis was conducted to validate changes; docking analysis showed that novel variant has a significant role in the interactions with anti-seizure drugs. SIGNIFICANCE: Besides clinical and genetic outcomes, ∼5.45% unique genetical variations were observed in the participants. Significant mimicked at the binding site position (92-111) of human BRD2 ranges ∼8.2%, ∼16.4%, and ∼10.6%. Further, research is needed to identify the importance of polymorphism alterations at the binding site and their molecular interactions with anti-seizure drugs, which might be confirmed in a diverse population with JME.

Neuron specific enolase as a marker of seizure related neuronal injury.

BACKGROUND: and purpose: Neuron specific enolase (NSE) is an established biomarker of neuronal damage. It is not clear how much seizures contribute to the neuronal damage, morbidity or mortality in critically ill neurology patients. The aim of this study is to determine the impact of seizures on neuronal injury in critically ill neurology patients by using neuron specific enolase as a biomarker. MATERIAL AND METHODS: Forty patients with clinical evidence of acute central nervous system disease associated with seizures were included as critically ill neurology patients with seizures [CINPS] (age in years 38.8 ±â€¯17.54, mean ±â€¯SD; 22 males) and 43 age and sex-matched acute central nervous system disease without seizures were recruited as critically ill neurology patients [CINP] (age in years 37.84 ±â€¯17.38 years mean ±â€¯SD; 24 males) The serum NSE assays were performed in CINPS (within 24 h of last seizure) and in CINP using an enzyme immunoassay kit. RESULTS: The level of serum neuron specific enolase was significantly higher in CINP with seizures compared to those without seizures. The length of ICU stay was more prolonged in those with seizures. There was a close correlation between the NSE levels and frequency of seizures. There was no significant difference in the mortality between both the groups. CONCLUSIONS: NSE a marker of neuronal injury was elevated in patients with acute central nervous system diseases. It is significantly higher in patients with seizures in comparison to those without seizures. This warrants further studies to document aggressive treatment of seizures in acute neurologically ill patients can reduce neuronal damage.

Vasculitic Neuropathy: A Retrospective Analysis of Nerve Biopsies and Clinical Features from a Single Tertiary Care Center.

OBJECTIVE: Vasculitic neuropathy can be either restricted to the peripheral nerves or associated with systemic involvement of other organs. The objective of this study was to analyze the nerve biopsies reported as "vasculitic neuropathy" with clinical features. MATERIALS AND METHODS: All cases diagnosed with vasculitic neuropathy were retrospectively analyzed and categorized as systemic vasculitis and nonsystemic vasculitic neuropathy based on the clinical features. The histological features were further evaluated and classified according to the Peripheral Nerve Society Guidelines. RESULTS: Of the 126 cases, there were 65 nonsystemic vasculitis, 45 secondary systemic vasculitis, and 16 primary systemic vasculitis. Definite vasculitis was more common in the systemic vasculitis group. The epineurial vessels were predominantly involved with chronic axonal changes. CONCLUSION: The sensitivity of definite vasculitis on nerve biopsy was 54.76%. The sensitivity increases when the diagnostic criteria of definite and probable vasculitis were applied taking into account perivascular inflammation accompanied by vascular changes and axonopathy.

Risk Factors, Vascular Lesion Distribution, Outcome and Recurrence of Strokes Due to Intracranial Atherosclerosis: One Year Data from Hyderabad Stroke Registry.

BACKGROUND: Intracranial atherosclerotic stenosis (ICAS) is a common cause of ischemic stroke in Asian countries and probably in India. AIM: The aim of this study was to describe the risk factors, distribution of vascular lesions, recurrence and outcome of stroke due to ICAS. METHODOLOGY: A total of 100 consecutive patients of ischemic stroke due to ICAS were enrolled prospectively from January 1, 2015, to December 31, 2015, and followed for 1 year for treatment compliance and recurrence. The details about demographics, risk factors, and vascular lesions were noted. RESULTS: There were 68 males and 32 females. Hypertension (HTN), diabetes, alcohol, smoking, hyperlipidemia, and hyperhomocysteinemia was present in 82%, 52%, 34%, 33%, 28%, and 23%, respectively. The number of arteries involved were middle cerebral artery, 53 (37.3%); posterior cerebral artery, 24 (16.9%); internal cerebral artery, 21 (14.8%); vertebral artery, 18 (12.7%); basilar artery, 6 (4.2%); and anterior cerebral artery, 6 (4.2%). Seventeen (17%) patients had a recurrent stroke during 1 year follow-up. The presence of uncontrolled HTN and diabetes mellitus after discharge were significantly associated with stroke recurrence (P < 0.05). The use of dual antiplatelet agents and statins was found to have a significant effect in the prevention of recurrent stroke (P < 0.05). Severe stroke at presentation and presence of hemiparesis were the predictors for unfavorable outcome at 3 months (P < 0.05). CONCLUSION: Risk factors, distribution of vascular lesions and high recurrence of stroke due to ICAS in this study is similar to that reported from other Asian countries. Aggressive medical management and risk factor control remains the best strategy for preventing recurrence.

Fulminant Subacute Sclerosing Panencephalitis Presenting with Acute Ataxia and Hemiparesis in a 15-Year-Old Boy

BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a delayed and fatal manifestation of measles infection. Fulminant SSPE is a rare presentation in which the disease progresses to death over a period of 6 months. The clinical features are atypical and can be misleading. CASE REPORT: We report herein a teenage boy who presented with acute-onset gait ataxia followed by right hemiparesis that evolved over 1 month, with left-hemispheric, delta-range slowing on the electroencephalogram (EEG). Magnetic resonance imaging disclosed multiple white-matter hyperintensities, suggesting a diagnosis of acute disseminated encephalomyelitis. He received intravenous steroids, and within 4 days of hospital admission he developed unilateral slow myoclonic jerks. Repeat EEG revealed Rademecker complexes, pathognomonic of SSPE, and an elevated titer of IgG antimeasles antibodies was detected in his cerebrospinal fluid. The disease progressed rapidly and the patient succumbed within 15 days of hospitalization. The diagnosis of SSPE was confirmed by autopsy. CONCLUSIONS: This case illustrates the difficulty of recognizing fulminant SSPE when it manifests with asymmetric clinical and EEG abnormalities.