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This study aimed to uncover novel genes associated with neurodevelopmental disorders (NDD) by leveraging recent large-scale de novo burden analysis studies to enhance a virtual gene panel used in a diagnostic setting. We re-analyzed historical trio-exome sequencing data from 745 individuals with NDD according to the most recent diagnostic standards, resulting in a cohort of 567 unsolved individuals. Next, we designed a virtual gene panel containing candidate genes from three large de novo burden analysis studies in NDD and prioritized candidate genes by stringent filtering for ultra-rare de novo variants with high pathogenicity scores. Our analysis revealed an increased burden of de novo variants in our selected candidate genes within the unsolved NDD cohort and identified qualifying de novo variants in seven candidate genes: RIF1, CAMK2D, RAB11FIP4, AGO3, PCBP2, LEO1 , and VCP . Clinical data were collected from six new individuals with de novo or inherited LEO1 variants and three new individuals with de novo PCBP2 variants. Our findings add additional evidence for LEO1 as a risk gene for autism and intellectual disability. Furthermore, we prioritize PCBP2 as a candidate gene for NDD associated with motor and language delay. In summary, by leveraging de novo burden analysis studies, employing a stringent variant filtering pipeline, and engaging in targeted patient recruitment, our study contributes to the identification of novel genes implicated in NDDs.

We report an analysis of chemical components of essential oils from barks of Ceylon cinnamon and cloves of Syzygium aromaticum and an investigation of their antibacterial activity. The components of oils were determined by using Gas Chromatography/Mass Spectrometry (GC-MS) analysis, and the antimicrobial activity was assessed by the disk diffusion test. The synergic effect of essential oils mixture (cinnamon oil and clove oil) was evaluated. Antimicrobial properties were conferred to cellulosic fibers through microencapsulation using citric acid as a green binding agent. Essential oil mixture was encapsulated by coacervation using chitosan as a wall material and sodium hydroxide as a hardening agent. The diameter of the produced microcapsules varies between 12 and 48 μm. Attachment of the produced microcapsules onto cotton fabrics surface was confirmed by Attenuated Total Reflectance-Fourier Transformed Infrared (ATR-FTIR) spectroscopy, optical microscopy and Scanning Electron Microscopy (SEM) analysis. The results show that microcapsules were successfully attached on cotton fabric surfaces, imparting antibacterial activity without significantly affecting their properties. The finished cotton fabrics exhibited good mechanical properties and wettability.

Familial hypercholesterolemia (FH) is a genetic disorder characterised by elevated plasma LDL‐cholesterol, predisposing to premature atherosclerotic cardiovascular disease. Most cases follow an autosomal dominant pattern (ADH) caused by pathogenic variants in LDLR, APOB or PCSK9 . In contrast, the rare autosomal recessive form (ARH) results from biallelic mutations in LDLRAP1 , leading to defective LDL receptor‐mediated endocytosis. Despite the high rate of consanguinity in Tunisia, LDLRAP1 variants have not yet been reported in this population. In this study, Whole Exome Sequencing of two consanguineous Tunisian families, identified distinct pathogenic variants. In the first family (FH‐A), a recurrent LDLR splice‐site variant (c.1845+1G>A) was detected in both heterozygous and homozygous states, consistent with an autosomal dominant inheritance pattern. In the second family (FH‐B), a novel homozygous LDLRAP1 missense variant (c.161G>A; p.Gly54Asp) was identified, confirming autosomal recessive inheritance. In silico analyses using MutationTaster, DynaMut2, MUpro, DDGun, NetSurfP‐2.0, ConSurf and PyMOL predicted that the p.Gly54Asp substitution destabilises the PTB domain of LDLRAP1 by disrupting key hydrogen bonds and hydrophobic interactions, thereby likely impairing LDLR internalisation. According to ACMG guidelines, this variant is classified as likely pathogenic. Clinically, ARH patients exhibited early‐onset xanthomas and an unusual quadricuspid aortic valve (QAV). Targeted analysis of valvulogenesis genes ( NOTCH1, GATA4, NKX2‐5, TBX5, AGTR1, BMP2 ) revealed no co‐segregating pathogenic variants, suggesting that QAV may result from embryonic LDL accumulation disrupting Notch1 signalling rather than a monogenic defect. Comparison with other ADH Tunisian families carrying the same LDLR mutation showed phenotypic variability, likely influenced by genetic modifiers, treatment response and environmental factors. These findings provide the first evidence of LDLRAP1 ‐associated ARH in Tunisia and highlight the genetic heterogeneity of FH, emphasising the importance of integrating molecular, structural and functional analyses for accurate diagnosis, personalised management and early prevention.

In order to improve healthcare of injured people, deacetylated acemannan extracted from Aloe vera leaves , having high inhibitory properties, was used as an antimicrobial finish on traditional cotton items. Response surface methodology was employed to define quadratic relationships between the polysaccharide grafting degree and the treatment process properties. An optimized modification process, offering the highest funtionalization degree, is obtained. The cellulosic fiber morphology and roughness modifications induced by polymer grafting are revealed using Atomic Force Microscopy and Scanning Electron Microscopy. Infra Red spectroscopy was used to confirm the grafting effectiveness. Thermogravimetric Analysis and Differential Scanning Calorimeter were further employed to confirm chemical modification. Considering the potential use of this new biomaterial, original properties were also studied. Finishing treatment seems to preserve mechanical properties, and hydrophilicity of the cellulosic substrate. MTT assay were done in HepG2 cells to ensure that the obtained dressings are non-toxic. The biomaterial showed high biocompatibility and promoted cell viability. Antimicrobial studies showed that grafting treatment conserved polymer antibacterial activity. Optimized cotton dressings exhibited a significant inhibitory effect against Staphylococcus aureus and Escherichia coli bacteria, killed respectively at 70.2% and 72.4%. Graphical abstract