Displaying publications 1 - 20 of 161 in total

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  1. Sharma M, Hunter KD, Fonseca FP, Shetty SS, Radhakrishnan R
    Arch Oral Biol, 2021 Aug;128:105164.
    PMID: 34044344 DOI: 10.1016/j.archoralbio.2021.105164
    OBJECTIVE(S): The objective of the present manuscript is to elucidate the role of matrix stiffness in the malignant transformation of oral submucous fibrosis.

    DESIGN: The role of matrix stiffness in several cancers including oral cancer was reviewed with a tailored search strategy using relevant keywords as per the Medline format. The role of molecular mediators, Yes-associated protein 1 (YAP) and transcriptional coactivator with PDZ-binding motif (TAZ) was weighed in the context of OSF along two distinct pathways.

    RESULTS: Increased matrix stiffness activates the transcriptional coactivators, YAP and TAZ shuttling between the nucleus and cytoplasm. YAP and TAZ, serve as mechanical transducers in promoting cell migration, invasion and epithelial-mesenchymal transition (EMT). The hypoxic microenvironment in the advanced stage of OSF promotes the migratory phenotype through mechanical memory.

    CONCLUSIONS: Reprogramming of a stiff matrix has the potential to restore the Hippo-YAP/TAZ tumor suppressor pathway and reverse fibrosis-associated tumor development.

    Matched MeSH terms: Fibrosis; Oral Submucous Fibrosis*
  2. Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, et al.
    Nat Genet, 2013 Oct;45(10):1160-7.
    PMID: 23974870 DOI: 10.1038/ng.2745
    Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator gene CFTR have empirical evidence that they cause cystic fibrosis. To address this gap, we collected both genotype and phenotype data for 39,696 individuals with cystic fibrosis in registries and clinics in North America and Europe. In these individuals, 159 CFTR variants had an allele frequency of ł0.01%. These variants were evaluated for both clinical severity and functional consequence, with 127 (80%) meeting both clinical and functional criteria consistent with disease. Assessment of disease penetrance in 2,188 fathers of individuals with cystic fibrosis enabled assignment of 12 of the remaining 32 variants as neutral, whereas the other 20 variants remained of indeterminate effect. This study illustrates that sourcing data directly from well-phenotyped subjects can address the gap in our ability to interpret clinically relevant genomic variation.
    Matched MeSH terms: Cystic Fibrosis/genetics*; Cystic Fibrosis Transmembrane Conductance Regulator/genetics*
  3. Zilfalil BA, Sarina S, Liza-Sharmini AT, Oldfield NJ, Stenhouse SA
    Singapore Med J, 2006 Feb;47(2):129-33.
    PMID: 16435054
    Cystic fibrosis (CF) is one of the common genetic disorders in the western world. It has been reported to be very rare in Asian populations. According to the Cystic Fibrosis Genetic Analysis Consortium, more than 1,000 mutations of the CF gene have been identified. The CF gene, named the cystic fibrosis transmembrane conductance regulator (CFTR), is located on chromosome 7 and composed of 27 exons. This study aims to detect possible CFTR gene mutations in Malays.
    Matched MeSH terms: Cystic Fibrosis/genetics*; Cystic Fibrosis Transmembrane Conductance Regulator/genetics*
  4. Leung GK, Ying D, Mak CC, Chen XY, Xu W, Yeung KS, et al.
    Mol Genet Genomic Med, 2017 Jan;5(1):40-49.
    PMID: 28116329 DOI: 10.1002/mgg3.258
    Cystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation.
    Matched MeSH terms: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator
  5. Chua F, Low S, Chai GT, Inoue Y, Ong V, Wongkarnjana A, et al.
    Lancet Respir Med, 2023 Jun;11(6):502-504.
    PMID: 37028437 DOI: 10.1016/S2213-2600(23)00125-X
    Matched MeSH terms: Idiopathic Pulmonary Fibrosis*
  6. Nathan AM, Thong MK, deBruyne J, Ariffin H
    J Paediatr Child Health, 2011 Aug;47(8):573-5.
    PMID: 21843195 DOI: 10.1111/j.1440-1754.2011.02149.x
    Matched MeSH terms: Cystic Fibrosis/diagnosis; Cystic Fibrosis/genetics*; Cystic Fibrosis Transmembrane Conductance Regulator/genetics*
  7. Ramanathan K
    Med J Malaysia, 1981 Dec;36(4):243-5.
    PMID: 7334962
    Submucous fibrosis (SMF) an important precancerous condition occurs almost exclusively in Indians but cases have been reported from several countries throughout the world. The causes of SMF are unknown and there is no known treatment for it. Chillies, tobacco use, vitamin deficiencies and betel quid chewing have been implicated. Ramanathan is of the view that SMF seems to be the Asian version of sideropenic dysphagia. He suggests that SMF appears to be an altered oral mucosa following a prolonged period of chronic deficiency of iron and/or vitamin B complex especially folic acid. This changed state of the oral mucosa subsequently appears to develop more easily a hypersensz"tivity to oral irritants such as spices especially chillies and to the betel quid. He provides biochemical data as well as quotes several studies to support his hypothesis.
    Matched MeSH terms: Oral Submucous Fibrosis/etiology*; Oral Submucous Fibrosis/pathology
  8. Liza AF, Aziah AM
    Med J Malaysia, 2012 Dec;67(6):620-1.
    PMID: 23770959
    A young gentleman of Indian descent with oculacutaneous albinism (OCA) was found to have severe pulmonary fibrosis at first presentation. Following investigations, he was diagnosed with Hermansky-Pudlak Syndrome (HPS). It is a genetic condition characterised by albinism, bleeding diathesis and multisystem disorder observed in individuals of particular descents. Although there is no curative treatment apart from lung transplantation, preventive measures to minimise pulmonary insult may change the natural history of the disease. Therefore HPS should be actively sought, monitored and risk factors addressed in individuals with OCA and bleeding diathesis particularly those of Indian descent as they may develop serious complications such as pulmonary fibrosis in the future.
    Matched MeSH terms: Pulmonary Fibrosis*
  9. Shetty SS, Sharma M, Fonseca FP, Jayaram P, Tanwar AS, Kabekkodu SP, et al.
    Jpn Dent Sci Rev, 2020 Nov;56(1):97-108.
    PMID: 32874377 DOI: 10.1016/j.jdsr.2020.07.002
    Epithelial-mesenchymal transition (EMT) is a critical process that occurs during the embryonic development, wound healing, organ fibrosis and the onset of malignancy. Emerging evidence suggests that the EMT is involved in the invasion and metastasis of cancers. The inflammatory reaction antecedent to fibrosis in the onset of oral submucous fibrosis (OSF) and the role of EMT in its malignant transformation indicates a hitherto unexplored involvement of EMT. This review focuses on the role of EMT markers which are regulators of the EMT mediated complex network of molecular mechanisms involved in the pathogenesis of OSF and OSCC. Further the gene enrichment analysis and pathway analysis supports the association of the upregulated and downregulated genes in various EMT regulating pathways.
    Matched MeSH terms: Fibrosis; Oral Submucous Fibrosis
  10. Lau KS, Prathap K, Mukherjee AP, White JC
    Med J Malaysia, 1974 Jun;28(4):253-6.
    PMID: 4278434
    Matched MeSH terms: Pulmonary Fibrosis/complications*
  11. Litvinova MM, Khafizov KF, Speranskaya AS, Matsvay AD, Asanov AY, Nikolskaya KA, et al.
    Sovrem Tekhnologii Med, 2023;15(2):60-70.
    PMID: 37389024 DOI: 10.17691/stm2023.15.2.06
    The aim of the study was to define the spectrum of genetic risk factors of chronic pancreatitis (CP) development in patients living in the European part of the Russian Federation.

    MATERIALS AND METHODS: The study group included 105 patients with CP, with the age of the disease onset under 40 years old (the average age of onset was 26.9 years). The control group consisted of 76 persons without clinical signs of pancreatitis. The diagnosis of chronic pancreatitis in patients was made on the basis of clinical manifestations and the results of laboratory and instrumental investigations. Genetic examination of patients was conducted using the next-generation sequencing (NGS) technology and included targeted sequencing of all exons and exon-intron boundaries of the PRSS1, SPINK1, CTRC, CFTR, and CPA1 genes. The genotyping of the rs61734659 locus of the PRSS2 gene was also conducted.

    RESULTS: Genetic risk factors of the CP development were found in 61% of patients. Pathogenic and likely-pathogenic variants associated with the risk of CP development were identified in the following genes: CTRC (37.1% of patients), CFTR (18.1%), SPINK1 (8.6%), PRSS1 (8.6%), and CPA1 (6.7%). The frequent gene variants in Russian patients with CP were as follows: CTRC gene - c.180C>T (rs497078), c.760C>T (rs121909293), c.738_761del24 (rs746224507); cumulative odds ratio (OR) for all risk alleles was 1.848 (95% CI: 1.054-3.243); CFTR gene - c.3485G>T (rs1800120), c.1521_1523delCTT (p.Phe508del, rs113993960), and c.650A>G (rs121909046); OR=2.432 (95% CI: 1.066-5.553). In the SPINK1, PRSS1, and CPA1 genes, pathogenic variants were found only in the group of patients with CP. The frequent variants of the SPINK1 gene include c.101A>G (p.Asn34Ser, rs17107315) and c.194+2T>C (rs148954387); of the PRSS1 gene - c.86A>T (p.Asn29Ile, rs111033566); of the CPA1 gene - c.586-30C>T (rs782335525) and c.696+23_696+24delGG. The OR for the CP development for the c.180TT genotype (rs497078) CTRC according to the recessive model (TT vs. CT+CC) was 7.05 (95% CI: 0.86-263, p=0.011). In the CTRC gene, the variant c.493+49G>C (rs6679763) appeared to be benign, the c.493+51C>A (rs10803384) variant was frequently detected among both the diseased and healthy persons and did not demonstrate a protective effect. The protective factor c.571G>A (p.Gly191Arg, rs61734659) of the PRSS2 gene was detected only in the group of healthy individuals and confirmed its protective role. 12.4% of the patients with CP had risk factors in 2 or 3 genes.

    CONCLUSION: Sequencing of the coding regions of the PRSS1, SPINK1, CTRC, CFTR, and CPA1 genes allowed to identify genetic risk factors of the CP development in 61% of cases. Determining the genetic cause of CP helps to predict the disease course, perform preventive measures in the proband's relatives, and facilitate a personalized treatment of the patient in future.

    Matched MeSH terms: Cystic Fibrosis Transmembrane Conductance Regulator/genetics
  12. Ee R, Ambrose M, Lazenby J, Williams P, Chan KG, Roddam L
    Genome Announc, 2015;3(1).
    PMID: 25657265 DOI: 10.1128/genomeA.01389-14
    Pandoraea is an emerging respiratory pathogen capable of causing chronic lung infections in people with cystic fibrosis (CF), but the clinical significance of this infection is ambiguous. We have sequenced and annotated the genomes of two multidrug-resistant Pandoraea pnomenusa isolates recovered 11 months apart from the same CF patient.
    Matched MeSH terms: Cystic Fibrosis
  13. Chow SK, Yeap SS
    Clin Rheumatol, 2000;19(6):484-5.
    PMID: 11147762
    'Amyotrophic dermatomyositis' (ADM) is used to describe a small subgroup of patients with the typical skin rash associated with dermatomyositis but without muscle involvement. Lung involvement in ADM is rare. We report on the management of a patient with ADM associated with pulmonary fibrosis at presentation, and her response to corticosteroid treatment.
    Matched MeSH terms: Pulmonary Fibrosis/complications*; Pulmonary Fibrosis/diagnosis*; Pulmonary Fibrosis/drug therapy
  14. Tan HM, Khoo J, Pang KP
    Med J Malaysia, 2003 Jun;58(2):286-9.
    PMID: 14569752
    Two patients who had acute pancreatitis subsequently developed characteristic appearance on urography of smooth extrinsic narrowing and medial deviation of the right ureter suggestive of retroperitoneal fibrosis (RPF) resulting in ureteric obstruction. Both these patients had clinical, biochemical and sonographic evidence of acute pancreatitis. CT scan of the abdomen performed on the second patient also documented acute pancreatitis. Intravenous urograms were consistent with ureteric obstruction due to retroperitoneal fibrosis. Both cases were treated conservatively. They were well after an average of 20 months. These 2 cases illustrate the uncommon association between pancreatitis and RPF.
    Matched MeSH terms: Retroperitoneal Fibrosis/diagnosis; Retroperitoneal Fibrosis/etiology*; Retroperitoneal Fibrosis/therapy
  15. Norzila MZ, Azizi BH
    Singapore Med J, 1996 Jun;37(3):273-4.
    PMID: 8942227
    Cystic fibrosis (CF) is a rare disease among Asians. Three Malay children with CF presenting with recurrent pulmonary symptoms, malabsorption and failure to thrive are reported. Problems in their management include availability of pancreatic enzymes, compliance to medications and climate factors.
    Matched MeSH terms: Cystic Fibrosis/diagnosis; Cystic Fibrosis/epidemiology*; Cystic Fibrosis/therapy
  16. Leong SS, Jalalonmuhali M, Md Shah MN, Ng KH, Vijayananthan A, Hisham R, et al.
    Br J Radiol, 2023 Mar 01;96(1144):20220288.
    PMID: 36802861 DOI: 10.1259/bjr.20220288
    OBJECTIVE: Many studies have conflicting findings in using shear wave elastography (SWE) to assess renal fibrosis. This study reviews the use of SWE to evaluate pathological changes in native kidneys and renal allografts. It also tries to elucidate the confounding factors and care taken to ensure the results are consistent and reliable.

    METHODS: The review was carried out according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. Literature search was conducted in Pubmed, Web of Science and Scopus database up to 23 October 2021. To evaluate risk and bias applicability, the Cochrane risk-of bias tool and GRADE was used. The review was registered under PROSPERO CRD42021265303.

    RESULTS: A total of 2921 articles were identified. 104 full texts were examined and 26 studies included in systematic review. 11 studies performed on native kidneys and 15 studies on transplanted kidney. A wide range of impact factors was found that affect the accuracy of SWE of renal fibrosis in adult patients.

    CONCLUSIONS: Compared to point SWE, two-dimensional SWE with elastogram could enable better selection of the region of interest in kidneys, leading to reproducible results. Tracking waves were attenuated as the depth from skin to region of interest increased, therefore, SWE is not recommended for overweight or obese patients. Variable transducer forces might also affect SWE reproducibility, thus, training of operators to ensure consistent operator-dependent transducer forces may be helpful.

    ADVANCES IN KNOWLEDGE: This review provides a holistic insight on the efficiency of using SWE in evaluating pathological changes in native and transplanted kidneys, thereby contributing to the knowledge of its utilisation in clinical practice.

    Matched MeSH terms: Fibrosis
  17. Cheung JTK, Zhang X, Wong GL, Yip TC, Lin H, Li G, et al.
    Aliment Pharmacol Ther, 2023 Dec;58(11-12):1194-1204.
    PMID: 37724633 DOI: 10.1111/apt.17722
    BACKGROUND: Early screening may prevent fibrosis progression in metabolic-associated fatty liver disease (MAFLD).

    AIMS: We developed and validated MAFLD fibrosis score (MFS) for identifying advanced fibrosis (≥F3) among MAFLD patients.

    METHODS: This cross-sectional, multicentre study consecutively recruited MAFLD patients receiving tertiary care (Malaysia as training cohort [n = 276] and Hong Kong and Wenzhou as validation cohort [n = 431]). Patients completed liver biopsy, vibration-controlled transient elastography (VCTE), and clinical and laboratory assessment within 1 week. We used machine learning to select 'highly important' predictors of advanced fibrosis, followed by backward stepwise regression to construct MFS formula.

    RESULTS: MFS was composed of seven variables: age, body mass index, international normalised ratio, aspartate aminotransferase, gamma-glutamyl transpeptidase, platelet count, and history of type 2 diabetes. MFS demonstrated an area under the receiver-operating characteristic curve of 0.848 [95% CI 0.800-898] and 0.823 [0.760-0.886] in training and validation cohorts, significantly higher than aminotransferase-to-platelet ratio index (0.684 [0.603-0.765], 0.663 [0.588-0.738]), Fibrosis-4 index (0.793 [0.735-0.854], 0.737 [0.660-0.814]), and non-alcoholic fatty liver disease fibrosis score (0.785 [0.731-0.844], 0.750 [0.674-0.827]) (DeLong's test p 

    Matched MeSH terms: Fibrosis
  18. Palaniappan SK, Than NN, Thein AW, van Mourik I
    Cochrane Database Syst Rev, 2020 03 30;3:CD012056.
    PMID: 32227478 DOI: 10.1002/14651858.CD012056.pub3
    BACKGROUND: Cystic fibrosis is an autosomal recessive inherited defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene resulting in abnormal regulation of salt and water movement across the membranes. In the liver this leads to focal biliary fibrosis resulting in progressive portal hypertension and end-stage liver disease in some individuals. This can be asymptomatic, but may lead to splenomegaly and hypersplenism, development of varices and variceal bleeding, and ascites; it has negative impact on overall nutritional status and respiratory function in this population. Prognosis is poor once significant portal hypertension is established. The role and outcome of various interventions for managing advanced liver disease (non-malignant end stage disease) in people with cystic fibrosis is currently unidentified. This is an updated version of a previously published review.

    OBJECTIVES: To review and assess the efficacy of currently available treatment options for preventing and managing advanced liver disease in children and adults with cystic fibrosis.

    SEARCH METHODS: We searched the Cochrane Cystic Fibrosis Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books. Date of last search: 19 November 2019. We also searched the reference lists of relevant articles and reviews and online trials registries. Date of last search: 01 January 2020.

    SELECTION CRITERIA: Any published and unpublished randomised controlled trials and quasi-randomised controlled trials of advanced liver disease in cystic fibrosis with cirrhosis or liver failure, portal hypertension or variceal bleeding (or both).

    DATA COLLECTION AND ANALYSIS: Authors independently examined titles and abstracts to identify potentially relevant trials, but none were eligible for inclusion in this review.

    MAIN RESULTS: A comprehensive search of the literature did not identify any published eligible randomised controlled trials.

    AUTHORS' CONCLUSIONS: In order to develop the best source of evidence, there is a need to undertake randomised controlled trials of interventions for preventing and managing advanced liver disease in adults and children with cystic fibrosis.

    Matched MeSH terms: Cystic Fibrosis/complications*; Cystic Fibrosis/genetics; Cystic Fibrosis Transmembrane Conductance Regulator/genetics
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