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Author(s): Priyanka Patra (corresponding author) [1] Key Message: As clinical clues are not often enough for diagnosis of Charcot-Marie-Tooth disease subtypes, molecular testing becomes essential to establish a specific genetic [...], Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder. As more genes are identified and overlapping of neuropathy phenotypes, the traditional classification of CMT often proves inadequate. A young male with typical clinical features was suspected to have CMT, but family history about the inheritance pattern and distinct features suggestive of particular subtypes were lacking. He was directly evaluated by whole exome sequencing (WES). The libraries from extracted DNA were sequenced on Illumina sequencing platform. The variant detected in WES was confirmed by Sanger sequencing. WES shows a likely pathogenic hemizygous missense variation in exon 2 of the gap junction protein beta 1(GJB1) gene (chrX: 70444104; C > T; Depth: 66x) that results in the substitution of cysteine for arginine at codon 183 (p.Arg183Cys). This novel variation expands the spectrum of GJB1 mutations associated with X-linked CMT (CMTX) to establish a specific genetic cause. Keywords: Charcot-Marie-Tooth disease, exome sequencing, GJB1 gene, hemizygous, missense variation

Excess bone resorption is commonly found when teeth are extracted or lost. This is a problem in the anterior teeth region because it will result in an unsightly long pontic on a narrow, hollowed-out ridge. Special techniques have been developed to treat problems of vertical and horizontal ridge resorption. This case describes a simple method to improve a localized horizontal buccal ridge defect and create an emergence profile in relation to the anterior maxillary teeth region, prior to the fabrication of a fixed partial denture. This technique involved the use of an autogenous bone graft and enriched bone graft matrix (also known as 'sticky bone') for hard tissue augmentation, so as to obtain a natural form and maintain a healthy periodontium. [ABSTRACT FROM AUTHOR]

The most common non-Hodgkin lymphoma (NHL) subtype is diffuse large B-cell lymphoma (DLBCL). It accounts for roughly 30% of all cases of NHL affecting both nodal and extra nodal sites. There are molecular subtypes of DLBCL, germinal centre subtype (GCB), and activated B-cell (ABC), based on gene expression profiling (GEP), in accumulation to distinct morphological and clinicopathological subtypes. To prognosticate patients, the International Prognostication Index (IPI) and its variants are used. In ABC type DLBCL, limited stage disease is treated with a combination of abbreviated systemic chemotherapy (three cycles) and field radiation therapy. Although advanced stage disease is treated with a full course of chemotherapy as well as novel agents (Bortezomib, Ibrutinib, Lenalidomide). In this review study, we looked at the role of multiple aspects of genetic and microenvironment changes which have effects in DLBCL tumours. [ABSTRACT FROM AUTHOR]

Epstein-Barr virus (EBV) is known to be associated with several cancers along with neurological modalities like Alzheimer's disease (AD) and multiple sclerosis (MS). Previous study from our group revealed that a 12 amino acid peptide fragment ( 146 SYKHVFLSAFVY 157 ) of EBV glycoprotein M (gM) exhibits amyloid-like self-aggregative properties. In the current study, we have investigated its effect on Aβ 42 aggregation along with its effect on neural cell immunology and disease markers. EBV virion was also considered for the above-mentioned investigation. An increase in the aggregation of Aβ 42 peptide was observed upon incubation with gM 146-157 . Further, the exposure of EBV and gM 146-157 onto neuronal cells indicated the upregulation of inflammatory molecules like IL-1β, IL-6, TNF-α, and TGF-β that suggested neuroinflammation. Besides, host cell factors like mitochondrial potential and calcium ion signaling play a crucial role in cellular homeostasis and alterations in these factors aid in neurodegeneration. Changes in mitochondrial membrane potential manifested a decrease while elevation in the level of total Ca 2+ ions was observed. Amelioration of Ca 2+ ions triggers excitotoxicity in neurons. Subsequently, neurological disease-associated genes APP, ApoE4, and MBP were found to be increased at the protein level. Additionally, demyelination of neurons is a hallmark of MS and the myelin sheath consists of ∼70% of lipid/cholesterol-associated moieties. Hereby, genes associated with cholesterol metabolism indicated changes at the mRNA level. Enhanced expression of neurotropic factors like NGF and BDNF was discerned postexposure to EBV and gM 146-157 . Altogether, this study delineates a direct connection of EBV and its peptide gM 146-157 with neurological illnesses.