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  1. Ajura Abdul Jalil, Lukman Md Auzair, Hin, Lau Shin
    MyJurnal
    Congenital epulis is a fairly rare soft tissue tumour occurring exclusively on the alveolar ridge of newborns. The exact origin of congenital epulis is still debatable. The objective of the study is to determine the clinicopathological features and immunohistochemical findings of congenital epulis. A retrospective study was carried out to determine the clinicopathological features of congenital epulis, diagnosed histologically in the main oral histopathology laboratory in Malaysia from 1967 to 2014. Immunostaining using vimentin, muscle specific actin, smooth muscle antigen, desmin, S100, CD34, CD68 and CD1a was carried out. Twelve cases of congenital epulis were reviewed. All of the patients were females and the presentation age ranged from 2 to 90 days. The patients comprised of 6 Malays, 3 Chinese, 2 Indians and 1 Orang Asli. Most of the cases (n=7) involved the maxillary ridge and presented as pedunculated well-defined lumps (n=8). Excisional biopsy was performed in all cases. Via immunohistochemistry, vimentin expression was observed in all cases; but negative for CD34, muscle specific actin, smooth muscle antigen, and desmin. CD1a and S100 positivity was seen in five cases. The interstitial cells were highlighted by CD68. Although congenital epulis has been first described 130 years ago, the exact nature of its histogenesis remains a mystery.
    Matched MeSH terms: Intermediate Filaments
  2. Noor Liza Ishak, Primuharsa Putra Sabir Athar Husin, Suria Hayati Md Pauzi, Isa Mohd Rose, Mohd Razif Mohamad Yunus
    MyJurnal
    Solitary fibrous tumours of the head and neck region are
    extremely rare. The clinical diagnosis is often difficult to
    establish, and this lesion may be indistinguishable from other
    soft tissue neoplasms. An 18-year old Chinese gentleman
    presented with a painless right submandibular swelling which
    was increasing in size for eight months. A computed
    tomography scan showed a well-defined solid mass measuring
    about 2.0 x 2.96 cm in the submandibular region. The tumour
    was resected and was confined within its capsule.
    Immunohistochemical staining was strongly positive for CD34,
    CD 99, and vimentin and negative for desmin, smooth muscle
    actin (SMA), cytokeratin, S100 and CD68. The microscopic and
    immunohistochemical profile were compatible with solitary
    fibrous tumour. Distinguishing solitary fibrous tumours from
    various spindle neoplasms can be difficult. In view of the
    resemblance, immunohistochemical staining can help
    differentiate solitary fibrous tumour from spindle neoplasm.
    Matched MeSH terms: Intermediate Filaments
  3. Al Ali J, Vaine CA, Shah S, Campion L, Hakoum A, Supnet ML, et al.
    Mov Disord, 2021 01;36(1):206-215.
    PMID: 32975318 DOI: 10.1002/mds.28305
    BACKGROUND: X-linked dystonia-parkinsonism is a rare neurological disease endemic to the Philippines. Dystonic symptoms appear in males at the mean age of 40 years and progress to parkinsonism with degenerative pathology in the striatum. A retrotransposon inserted in intron 32 of the TAF1 gene leads to alternative splicing in the region and a reduction of the full-length mRNA transcript.

    OBJECTIVES: The objective of this study was to discover cell-based and biofluid-based biomarkers for X-linked dystonia-parkinsonism.

    METHODS: RNA from patient-derived neural progenitor cells and their secreted extracellular vesicles were used to screen for dysregulation of TAF1 expression. Droplet-digital polymerase chain reaction was used to quantify the expression of TAF1 mRNA fragments 5' and 3' to the retrotransposon insertion and the disease-specific splice variant TAF1-32i in whole-blood RNA. Plasma levels of neurofilament light chain were measured using single-molecule array.

    RESULTS: In neural progenitor cells and their extracellular vesicles, we confirmed that the TAF1-3'/5' ratio was lower in patient samples, whereas TAF1-32i expression is higher relative to controls. In whole-blood RNA, both TAF1-3'/5' ratio and TAF1-32i expression can differentiate patient (n = 44) from control samples (n = 18) with high accuracy. Neurofilament light chain plasma levels were significantly elevated in patients (n = 43) compared with both carriers (n = 16) and controls (n = 21), with area under the curve of 0.79.

    CONCLUSIONS: TAF1 dysregulation in blood serves as a disease-specific biomarker that could be used as a readout for monitoring therapies targeting TAF1 splicing. Neurofilament light chain could be used in monitoring neurodegeneration and disease progression in patients. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

    Matched MeSH terms: Intermediate Filaments
  4. Eik LF, Naidu M, David P, Wong KH, Tan YS, Sabaratnam V
    PMID: 22203867 DOI: 10.1155/2012/320308
    A national treasure mushroom, Lignosus rhinocerus, has been used to treat variety of ailments by local and indigenous communities in Malaysia. The aim of this study was to investigate the potential of the most valuable part of L. rhinocerus, the sclerotium, on neurite outgrowth activity by using PC-12Adh cell line. Differentiated cells with one thin extension at least double the length of the cell diameter were scored positive. Our results showed that aqueous sclerotium L. rhinocerus extract induced neurite outgrowths of 24.4% and 42.1% at 20 μg/mL (w/v) of aqueous extract alone and a combination of 20 μg/mL (w/v) aqueous extract and 30 ng/mL (w/v) of NGF, respectively. Combination of NGF and sclerotium extract had additive effects and enhanced neurite outgrowth. Neuronal differentiation was demonstrated by indirect immunofluorescence of neurofilament protein. Aqueous sclerotium extract contained neuroactive compounds that stimulated neurite outgrowth in vitro. To our knowledge this is the first report on neurite-stimulating activities of L. rhinocerus.
    Matched MeSH terms: Intermediate Filaments
  5. Heng BC, Gong T, Xu J, Lim LW, Zhang C
    Biomed Rep, 2018 Aug;9(2):161-168.
    PMID: 29963307 DOI: 10.3892/br.2018.1108
    Dental pulp stem cells (DPSCs) originate from the embryonic neural crest and have neurogenic potential. The present study investigated the roles of the forward and reverse EphrinB2 signalling pathways during DPSC neurogenesis. Treatment of DPSCs with recombinant EphrinB2-Fc protein over 7 days in a neural induction culture resulted in significant downregulation of the following neural markers: βIII-Tubulin, neural cell adhesion molecule (NCAM), nestin, neurogenin 2 (NGN2), neurofilament medium polypeptide and Musashi1. Immunocytochemistry revealed that EphrinB2-Fc-treated DPSCs exhibited more rounded morphologies with fewer neurite outgrowths as well as reduced protein expression of βIII-tubulin and NGN2. Treatment of DPSCs with a peptide inhibitor specific to the EphB4 receptor significantly upregulated expression of the neural markers microtubule-associated protein 2, Musashi1, NGN2 and neuron-specific enolase, whereas treatment with a peptide inhibitor specific to the EphB2 receptor exerted negligible effects on neurogenesis. Transgenic expression of EphrinB2 in DPSCs resulted in significant upregulation of Musashi1 and NCAM gene expression, while treatment of DPSCs with recombinant EphB4-Fc protein led to significant upregulation of only Musashi1. Thus, it may be concluded that stimulation of forward EphrinB2-EphB4 signalling markedly inhibited neurogenesis in DPSCs, whereas suppression of this forward signalling pathway with peptide inhibitor specific to EphB4 promoted neurogenesis. Meanwhile, stimulation of reverse EphB4-EphrinB2 signalling only marginally enhanced the neural differentiation of DPSCs. The present findings indicate the potential application of peptide or small molecule inhibitors of EphrinB2 forward signalling in neural tissue engineering with DPSCs.
    Matched MeSH terms: Intermediate Filaments
  6. Siar CH, Ng KH
    J Nihon Univ Sch Dent, 1993 Jun;35(2):104-8.
    PMID: 7692015
    Seventeen cases of desmoplastic ameloblastoma were examined immunohistochemically. Immunoperoxidase techniques were applied for detection of keratin, desmin, vimentin and S-100 protein expression in these tumors. The tumor epithelium of desmoplastic ameloblastoma exhibited weak, focal, inconstant keratin staining, weak, variable expression of S-100 protein, desmin immunoreactivity of mild to moderate intensity and vimentin non-reactivity. The pertinent literature on the immunohistochemistry of ameloblastomas is briefly reviewed.
    Matched MeSH terms: Intermediate Filaments/pathology
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