Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed genetic counseling. We herein present the phenotypic and genotypic insights from 142 Indian families with epilepsy with or without comorbidities. Based on the electroclinical findings, epilepsy syndrome diagnosis could be made in 44% (63/142) of the families adopting the latest proposal for the classification by the ILAE task force (2022). Of these, 95% (60/63) of the families exhibited syndromes with developmental epileptic encephalopathy or progressive neurological deterioration. A definitive molecular diagnosis was achieved in 74 of 142 (52%) families. Infantile-onset epilepsy was noted in 81% of these families (61/74). Fifty-five monogenic, four chromosomal, and one imprinting disorder were identified in 74 families. The genetic variants included 65 (96%) single-nucleotide variants/small insertion-deletions, 1 (2%) copy-number variant, and 1 (2%) triplet-repeat expansion in 53 epilepsy-associated genes causing monogenic disorders. Of these, 35 (52%) variants were novel. Therapeutic implications were noted in 51% of families (38/74) with definitive diagnosis. Forty-one out of 66 families with monogenic disorders exhibited autosomal recessive and inherited autosomal dominant disorders with high risk of recurrence.

The relationship between cervical spine range of motion and postural sway in mechanical neck pain: A cross-sectional study.

Background: Impairments in postural sway have been identified in people with mechanical neck pain. The influence of cervical spine range of motion (ROM) on postural sway is unclear in mechanical neck pain (MNP). Objective: This study investigated the relationship between cervical spine range of motion (ROM) and postural sway in MNP. Methods: The cervical ROM was measured using the Cervical Range of Motion (CROM) device. Standing postural sway characterised by mean centre of pressure (COP) measurements in the anterior posterior (AP) and medio-lateral direction with eyes closed and feet together condition was recorded on a posturography platform. Pearson product moment correlation coefficient was used to identify the relationship between cervical ROM and postural sway. Results: Seventy-two MNP individuals (Mean age: 29.9±11.7) of either sex (Male: Female=23:49) were recruited. Overall, no statistically significant correlations were identified between cervical spine ROM in sagittal and frontal plane and postural sway (r values ranging from 0.00 to -0.38; p-values >0.05). However, a weak negative correlation was present between the cervical rotation and AP (r-value=-0.23; p-value=0.04) and mediolateral (r-value=-0.38; p-value=0.01) COP excursion. Conclusion: The cervical spine ROM was found to have a weak relationship with postural sway in individuals with MNP. This suggests the investigation of other mechanisms especially muscle tension which might be responsible for altered postural sway in MNP.

Development and evaluation of Moringa extract incorporated Chitosan/Guar gum/Poly (vinyl alcohol) active films for food packaging applications.

The present study contributes the synthesis of active films with the incorporation of moringa extract (ME) into chitosan (CS)/guar gum (GG)/poly(vinyl alcohol) (PVA) matrix (CGPM) by simple solvent casting technique. The effect of ME on the mechanical, thermal, structural and morphological properties of CGPM active films were investigated. ME has shown a marked influence on the optical, thermal properties and swelling behaviour of CGPM active films. The improvement in the tensile strength of CGPM-1 active film (53.7 MPa) was observed compared to control CS/GG/PVA (CGP) film. DSC study revealed that glass transition temperature (Tg) and melting temperature (Tm) decreased with the addition of ME in the CGP matrix, which confirmed the miscibility among the components of active films. There was an improvement in the thermal stability of the CGPM active films. The FTIR study confirmed the molecular interaction between ME and CS/GG/PVA matrix. The XRD analysis showed a decrease in crystallinity with an increase in the ratio of CS for CGPM active films. The CGPM active films were an excellent barrier to UV- light and have exhibited a decrease in moisture adsorption and water solubility compared to CGP control film. The inclusion of ME in the CGP matrix leads to the formation of a dense compact surface, which in turn enhanced hydrophobicity of active films. The CGPM active films showed minimum WVP, OP values and overall migration values were within the limits of 10 mg/dm2. It was also observed that CGPM active films effectively inhibited the growth of E. coli and S. aureus bacteria. These findings suggest CGPM active films are biodegradable, biocompatible, non-toxic and hence can find application as food packaging materials.

Hydroxy citric acid cross-linked chitosan/guar gum/poly(vinyl alcohol) active films for food packaging applications.

The present work aims to prepare Chitosan (CS)/Guar gum (GG)/Poly(vinyl alcohol) (PVA) cross-linked with Hydroxy citric acid (HCA) (CGPH active film) by solvent casting technique. The influence of HCA on different CS/PVA ratio (1:3, 1:1, 3:1) in presence of the fixed amount of GG (0.2%) was investigated. The analysis of the results showed that the addition of HCA to the different ratio of CS/PVA increased the degradation temperature and improved the mechanical properties of CGPH active films. FTIR spectra and XRD analysis revealed strong interactions among the components of CGPH active films. The analysis of SEM images and water contact angle suggested a compact, dense film surface with hydrophobic nature. Further, all the active films have shown a decrease in water vapour permeability (WVP) and acted as a barrier to UV-light. CGPH active films effectively inhibited the growth of S. aureus and E. coli bacteria. With all these features the CGPH active films can find application in food packaging.