This article is available in open access under Creative Common Attribution-Non-Commercial-No Derivatives 4.0 International (CC BY-NC-ND 4.0) license, allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
The deleterious genetic variants contributing to certain diseases may differ in terms of number and allele frequency from population to population depending on their evolutionary background. Here, we prioritize the deleterious variants from Pakistani population in manually curated gene list already reported to be associated with common, Mendelian, and congenital cardiovascular diseases (CVDs) using the genome/exome sequencing data of Pakistani individuals publically available in 1000 Genomes Project (PJL), and Exome Aggregation Consortium (ExAC) South Asia. By applying a set of tools such as Combined Annotation Dependent Depletion (CADD), ANNOVAR, and Variant Effect Predictor (VEP), we highlighted 561 potentially detrimental variants from PJL data, and 7374 variants from ExAC South Asian data. Likewise, filtration from ClinVar for CVDs revealed 03 pathogenic and 02 likely pathogenic variants from PJL and 112 pathogenic and 42 likely pathogenic variants from ExAC South Asians. The comparison of derived allele frequencies (DAF) revealed many of these prioritized variants having two fold and higher DAF in Pakistani individuals than in other populations. The highest number of deleterious variants contributing to common CVDs in descending order includes hypertension, atherosclerosis, heart failure, aneurysm, and coronary heart disease, and for Mendelian and congenital CVDs cardiomyopathies, cardiac arrhythmias, and atrioventricular septal defects.
Tuberculosis (TB)-associated uveitis is a common cause of infectious uveitis in the developing world. Diagnosis of TB uveitis remains a challenge. The role of interferon gamma release assays (IGRAs) is uncertain. Herein we summarise the available literature on the utility of IGRAs in the diagnosis and management of TB uveitis. We searched PubMed database from 1 August 2010 to 31 July 2020 using the following keywords alone and in combination: ‘interferon-gamma release assay’, ‘QuantiFERON’, ‘T-SPOT.TB’, ‘TB uveitis’, ‘serpiginous like choroiditis’, ‘tuberculoma’, ‘TB vasculitis’, ‘TB panuveitis’ and ‘ocular tuberculosis’. Data from 58 relevant studies were collated. The review is focused on currently marketed versions of IGRA tests: QuantiFERON-TB Gold In-Tube assay, QuantiFERON-TB Gold Plus assay (QFT-Plus) and T-SPOT.TB. We found limited evidence regarding the diagnostic utility of IGRA in patients with uveitis. No study was identified evaluating the newer QFT test—the QFT-Plus—in patients with uveitis. Similarly, there is lack of data directly comparing QFT-Plus with T-SPOT.TB specifically for the diagnosis of TB uveitis.
ObjectivesTo assess the association of exposure in cotton mills in Karachi with different definitions of byssinosis and lung health.MethodsThis cross-sectional survey took place between June 2019 and October 2020 among 2031 workers across 38 spinning and weaving mills in Karachi. Data collection involved questionnaire-based interviews, spirometry and measurements of personal exposure to inhalable dust. Byssinosis was defined using both WHO symptoms-based (work-related chest tightness), and Schilling’s criteria (symptoms with decreased forced expiratory volume in 1 s (FEV1). Values of FEV1/forced vital capacity ratio below the lower limit of normality on postbronchodilator test were considered as ‘chronic airflow obstruction’ (CAO).Results56% of participants had at least one respiratory symptom, while 43% had shortness of breath (grade 1). Prevalence of byssinosis according to WHO criteria was 3%, it was 4% according to Schilling’s criteria, and likewise for CAO. We found low inhalable dust exposures (geometric mean: 610 µg/m3). Cigarette smoking (≥3.5 pack-years), increasing duration of employment in the textile industry and work in the spinning section were important factors found to be associated with several respiratory outcomes.ConclusionWe found a high prevalence of respiratory symptoms but a low prevalence of byssinosis. Most respiratory outcomes were associated with duration of employment in textile industry. We have discussed the challenges faced in using current, standard guidelines for identifying byssinosis.
Background The tet oncogene family member 2 (TET2) gene has been reported to be involved in DNA methylation and epigenetic regulation in acute myeloid leukemia (AML). Various studies have proven functional role of TET2 mutations in AML. We herein studied the frequency and genotype-phenotype correlation of TET2 gene in AML patients in Sindh, Pakistan. Patients and methods The current study was carried out at Liaquat University of Medical & Health Sciences, Jamshoro, Pakistan, in collaboration with National Institute of Blood Disease & Bone Marrow Transplant, Karachi, Pakistan, during the period from June 2019 to June 2020. A total of 130 patients diagnosed with AML were screened for TET2 mutations. Whole exome sequencing of 14 individuals was carried out to find the genetic variants in TET2 gene. The pathogenicity of the variants was predicted by SIFT, PolyPhen2, Mutation Taster and CADD Phred scores. The allele frequency of the variants was compared with global population using 1000 genomes project and Exome Aggregation Consortium (ExAC). Furthermore, exon 3 and exon 5 of the TET2 gene were sequenced by using Sanger sequencing. The findings were correlated with subtypes of AML and corresponding karyotypes. Results Through the exome sequencing, 17 genetic variants (13 SNPs and four indels) were identified in 14 individuals. Of these, four variants that is, one frameshift deletion, one frameshift insertion and two nonsense variants were novel and not present in dbSNP151 database. Three novel variants were found in exon 3 including two frameshift variants that is, p.T395fs and G494fs, predicted as deleterious by CADD Phred scores, and one stop-gain variant (p.G898X) predicted as deleterious by Mutation Taster and CADD Phred scores. One novel non sense variant (p.Q1191X) was found in the exon 5 predicted as deleterious by SIFT, Mutation Taster and CADD Phred scores. Sanger sequencing analysis revealed one novel deletion at g105233851: del.TAGATAGA, and one novel SNP g;105233861 T>G identified in the TET2 gene. Majority of the exon 3 mutations were seen in the patients diagnosed with AML with maturation, and had a normal karyotype. Conclusion TET2 mutations were identified in around 16% of the total patients of our study indicating other mechanisms being involved in pathophysiology of AML in this cohort. The TET2 mutations provide a prognostic value in determining AML classification.
This article is available in open access under Creative Common Attribution-Non-Commercial-No Derivatives 4.0 International (CC BY-NC-ND 4.0) license, allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
Industri manufaktur merupakan industri yang mengolah bahan baku menjadi produk setengah jadi maupun produk jadi. Di dalam proses produksi dan aktifitas pekerjaan dalam industri manufaktur memiliki risiko dari bahaya sehingga berpotensi terjadinya kecelakaan kerja. Di Indonesia industri manufaktur memiliki kontribusi yang tinggi dalam kecelakaan kerja bersamaan dengan konstruksi yaitu sebesar 63,6% tercatat pada tahun 2020. Kecelakaan kerja dapat terjadi salah satunya karena pengelolaan manajemen risiko keselamatan dan kesehatan kerja di perusahaan yang tidak dilaksanakan dengan baik. Penelitian ini bertujuan untuk menganalisis dan memberikan gambaran identifikasi bahaya, penilaian risiko dan pengendalian risiko pada industri manufaktur di Indonesia. Metode: Penelitian ini merupakan literature review dimana sumber data diperoleh dari “google scholar” berupa jurnal yang telah di publish. Data penelitian mengenai manajemen risiko keselamatan dan kesehatan kerja pada industri manufaktur di Indonesia dari tahun 2015-2020 dengan keywords identifikasi bahaya, penilaian risiko dan industri manufaktur. Setelah dilakukan proses penyeleksian didapatkan sebanyak 26 jurnal. Dari kajian literatur ini, bahaya yang paling banyak terdentifikasi adalah bahaya fisika seperti terkena mesin press, terkena mesin gerinda, terjepit mesin produksi, dll. Dalam penilaian risiko di peroleh tingkat risiko yang paling banyak muncul yaitu level medium & high. Pada pengendalian risiko yang paling banyak digunakan adalah pada pengendalian administrative seperti pembuatan standar operasional prosedur, memberikan bimbingan dalam operasi, dll. Pada industri manufaktur di Indonesia menggambarkan bahaya yang paling banyak terdentifikasi adalah bahaya fisika, di peroleh tingkat risiko yang banyak muncul yaitu pada level medium & high dan pengendalian risiko yang banyak digunakan adalah pengendalian administratif
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