Sibtain Afzal

Alfaisal University

Targeting and noninvasive imaging of a specific alveolar macrophage subpopulation in the lung has revealed the importance for early and better diagnosis and therapy of chronic obstructive pulmonary disease (COPD). In this study, the in vivo effect of pulmonary administration of iron oxide nanoparticles on the polarization profile of macrophages was...

Objective: Asthma is a heterogeneous and genetically complex respiratory disease, and more than 300 million people are affected worldwide. In this study frequencies of four SNPs (rs3816470, rs7216389, rs8067378, rs12603332) in chromosome 17q21 region were analyzed and their relationship with the asthma susceptibility, in the Pashtun population of K...

Background: Chronic myeloid leukemia (CML) is initiated in bone marrow due to chromosomal translocation t(9;22) leading to fusion oncogene BCR-ABL. Targeting BCR-ABL by tyrosine kinase inhibitors (TKIs) has changed fatal CML into an almost curable disease. Despite that, TKIs lose their effectiveness due to disease progression. Unfortunately, the me...

Primary hypertrophic osteoarthropathy (PHO) is a congenital multisystemic entity characterized by three major clinical symptoms: pachydermia, periostosis, and digital clubbing. Recently it has been reported that pathogenic mutations in two genes are known to be associated with PHO: HPGD and SLCO2A1. In the present study, a five-generation consangui...

Abstract Background: Chronic Myeloid Leukemia (CML) is initiated in bone marrow due to chromosomal translocation t(22;9) leading to fusion oncogene BCR-ABL. Targeting BCR-ABL by tyrosine kinase inhibitors (TKI) have changed fatal CML into an almost curable disease. Despite that, TKIs lose their effectiveness due to disease progression.Unfortunately...

Osteogenesis imperfecta is a clinically and genetically group of heterogeneous disorders associated with decreased bone density, brittle bones, bone deformity, recurrent fractures, and growth retardation. Osteogenesis imperfecta is commonly associated with mutations of the genes encoding for type I collagen (COL1A1/COL1A2). Mutations in other genes...

Ehlers–Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous disorder of soft connective tissues. The hallmark clinical features of the EDS are hyperextensible skin, hypermobile joints, and fragile vessels. It exhibits associated symptoms including contractures of muscles, kyphoscoliosis, spondylodysplasia, dermatosparaxis, p...

Background. Asphodelus tenuifolius Cav. (Asphodelaceae) is widely used in Pakistan traditional medicine as a hypotensive and diuretic agent. Despite the cardioprotective effects described for A. tenuifolius, the mechanisms involved in its probable hypotensive and diuretic effects have never been evaluated. Firstly, different extracts from A. tenuif...

The current investigation employed rosuvastatin for evaluation as an antiarthritic agent by in vitro and in vivo studies. In vitro studies comprised egg albumin and bovine serum albumin protein denaturation assays along with membrane stabilization assays, while in vivo studies comprised formaldehyde and complete Freund’s adjuvant (CFA)-provoked art...

Abstract: Asthma is a chronic inflammatory disease of the airways characterized by airway hyperresponsiveness and remodeling. Thymic stromal lymphopoietin (TSLP), a member of the interleukin-2 family of cytokines, is produced by activated lung and intestinal epithelial cells, mast, and other immune cells. Population-based studies identified associa...

Introduction: Chronic Myeloid Leukemia (CML) is initiated due to t (22;9) giving rise to Philadelphia chromosome and fusion oncogene BCR-ABL1. Discovery of BCR-ABL led to development of molecularly-targeted drugs called tyrosine kinase inhibitors (TKI), that have revolutionized CML treatment in first quarter of 21st century, by transforming a once...

Background: Thymic stromal lymphopoietin(TSLP) is recognized for its key role in promoting asthma, hence drawing considerable clinical interest as a potential therapeutic target. Population-based studies found association between single nucleotide polymorphisms(SNPs) located in the TSLP promoter region, and asthma; however, discrepancies have been...

Amlodipine, a second-generation calcium channel blocker, exhibits documented anti-inflammatory potential. Thereby, present investigation was accomplished with an aim to explore anti-arthritic potential of amlodipine, giving a second chance to an existing drug. For validation of anti-arthritic potential of amlodipine, some in vitro models comprised...

Unfortunately, the 4th author name was incorrectly published in the original publication.

Tyrosine Kinase Inhibitors (TKIs) have significantly improved the clinical outcome of BCR-ABL+ Chronic Phase-Chronic Myeloid Leukemia (CP-CML). Nonetheless, approximately one-third of the CP-CML patients progress to advanced phases of CML (accelerated and blast phase). Impaired DNA repair including mutations in Fanconi anemia (FA) pathway genes are...

Mitochondrial diseases are a clinically heterogeneous group of multisystem disorders caused by mitochondrial dysfunction. Hepatic involvement is a common feature in neonatal mitochondrial hepatopathies, which may manifest as acute liver failure, hepatic steatohepatitis, cholestasis, or even as chronic liver failure of insidious onset. Mitochondrial...

Background Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability. Methods We studied a consanguineous family having three affe...

espite many organized health initiatives and critically acclaimed guidelines for proper management of asthma therapy, there is still a large population of severe asthmatics having an uncontrolled disease. Severe persistent asthma, characterized by chronic airway inflammation, increased eosinophils and serum IgE is currently managed by using inhaled...

Background The present study aims to investigate the protective effect of rutin against cisplatin induced toxic effects on the mechanical performance of the myocardium, histopathology, and oxidative stress in isolated perfused rat hearts. Methods Cardiotoxicity of cisplatin was assessed at three dosage levels (1, 7, and 14 mg/l) in the isolated pe...

Background Olive oil is rich in monounsaturated fatty acids and has been reported for a variety of beneficial cardiovascular effects, including blood pressure lowering, anti-platelet, anti-diabetic, and anti-inflammatory effects. Diabetes is a major risk factor for cardiac dysfunctions, and olive oil prevents diabetes-induced adverse myocardial rem...

Background: X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusively affects males and the estimated prevalence ranges from 1:2000-6000 in males worldwide. Extracutaneous manifestations are fre...

Objective: Hajj is an important component of Islam. This study aimed to determine the effect of wearing a cotton towel or plain cotton ihram on the onset of respiratory symptoms and fractional exhaled nitric oxide (FeNO) levels in Hajj pilgrims. Methods: One hundred male nonsmoking subjects (age: 20-60 years) without a previous clinical history...

Hearing loss (HL) is the most common sensory disorder worldwide and genetic factors contribute to approximately half of congenital HL cases. HL is subject to extensive genetic heterogeneity, rendering molecular diagnosis difficult. Mutations of the transmembrane channel-like 1 (TMC1) gene cause hearing defects in humans and mice. The precise functi...

Introduction: Tyrosine kinase inhibitor (TKIs) have revolutionized CML treatment causing more than 80% patients to achieve durable cytogenetic and molecular remissions1. Initial CML treatment guidelines were to keep CML patients on TKIs for the life time2. Nevertheless, cost issues related to TKI-based treatment have given rise to thinking if TKI t...

The present study aims at phytochemical profiling and valuating the effect of crude extract of Delphinium brunonianum on fructose mediated rise in blood pressure and metabolic abnormalities in rats. Therefore, rats were fed on fructose (10%w/v) for 6 weeks. Rats in treatment groups received amlodipine 250, 500 and 1000 mg/kg of DB-Cr separately in...

Objective: Heterozygous pathogenic variants in the COL2A1 gene result in several clinical features including impaired skeletal growth, ocular and otolaryngological abnormalities. Missense mutations in the triple helical region of the COL2A1 protein have been associated with lethal spondyloepiphyseal dysplasia (SED). In this study, we aimed to ident...

Nephrotic syndrome (NS) represents a heterogeneous group of kidney disorders characterized by excessive proteinuria, hypoalbuminemia and edema. Defects in the filtration barrier of the glomeruli results in the development of NS. The genetic cause of NS remains to be fully elucidated. However, previous studies based on positional cloning of genes mu...

Xeroderma Pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity and increased risk of skin carcinoma. We investigated seven consanguineous XP families with nine patients from Pakistan. All the Patients exhibited typical clinical symptoms of XP sin...

Delta aminolevulinic acid dehydratase (ALAD) gene polymorphisms (rs1139488-MspI and RsaI in exon 4) and Matrix Gla (g-carboxyglutamic acid) protein T-138C polymorphisms were reported to affect the response of individuals to lead toxicity symptoms. In several previous studies, large inter-ethnic differences in the frequencies of different gene varia...

Primary hypertrophic osteoarthropathy (PHO) is a congenital multisystemic entity characterized by three major clinical symptoms: pachydermia, periostosis, and digital clubbing. Recently it has been reported that pathogenic mutations in two genes are known to be associated with PHO: HPGD and SLCO2A1. In the present study, a five-generation consangui...

Abstract Discovery of Novel Mutations Exclusively Shared By Accelerated and Blast Crisis Phase CML Patients Using Whole Exome Sequencing: Implication in Hunt for Common Biomarker /Drug Target of CML Progression Iqbal Z, Basit M, Jamil A, Absar M, Ullah A, Afzal S, Mahmood A, Ramzan K, Aleem A, Hashmi JA, Rehman N, Aljamaan K, Aloraibi S, Sagliob G,...

Objective: The aim was to compare periodontal and periimplant inflammatory parameters (plaque index [PI], bleeding on probing [BOP], probing depth [PD] and marginal bone loss [MBL]) among patients with prediabetes, type-2 diabetes mellitus (T2DM) and non-diabetic controls. Materials and methods: Forty-five patients with prediabetes (Group-1), 43 pa...

Drug resistance and the harmful side effects accompanying the prolonged corticosteroid treatment of chronic pulmonary diseases prompted the development of more specific anti-inflammatory approaches. Several strategies aiming to block IL4Rα, the receptor for a key pro-inflammatory pathway, were investigated. However, their efficiency was limited, mo...

Background VKH is a rare autoimmune disease. Decreased level of vitamin D has recently been found to be involved in the pathogenesis of Vogt-Koyanagi-Harada (VKH) disease. This study was designed to screen the vitamin D pathway genes for pathogenic mutations, if any, in VKH patients. Methods Genomic DNA was extracted from blood samples collected f...

Glucuronidation is an important phase II pathway responsible for many endogenous substances and drugs metabolism. The present work evaluated allele frequencies of certain UDP-glucuronosyl-transferases (UGT 1A6∗2, A7∗12, A8∗3, A9∗3, 2B7∗2, and 2B15∗2) in Saudi Arabians that could provide essential ethnic information. Blood samples from 192 healthy u...

Simultaneous inhibition of IL4 and IL13 via the common receptor chain IL4Rα to block adequately their biologic effects presents a promising therapeutic approach to give the additional relief required for asthma patients. In this study, superparamagnetic iron oxide nanoparticles were conjugated with anti-IL4Rα blocking antibodies via polyethylene gl...

Background: Hereditary tyrosinemia type 1 (HT1) is a rare inborn error of tyrosine catabolism with a worldwide prevalence of one out of 100,000 live births. HT1 is clinically characterized by hepatic and renal dysfunction resulting from the deficiency of fumarylacetoacetate hydrolase (FAH) enzyme, caused by recessive mutations in the FAH gene. We...

Purpose: Retinoblastoma (RB) is a rare intraocular malignant tumor of the developing retina with an estimated incidence of 1:20,000 live births in children under the age of 5 years. In addition to the abnormal whitish appearance of the pupil or leukocoria, strabismus has also been reported as a clinical symptom of the disease. RB1 is the first clo...

X-linked intellectual disability is the most common form of neurological disorder in male and accounts for 5-10% of incidence in the population. Copy number variants (CNVs) have been studied extensively to identify genomic regions responsible for neurological disorders. Array CGH and SNP genotyping have identified several CNVs on X-chromosome in pa...

Vitamin D receptor (VDR) gene has been a subject of extensive pharmacogenetic research recently. Association studies between different types of cancers including prostate cancer (PCa) and VDR gene polymorphism have also been conducted. The objective of this study was to find possible associations between PCa and VDR gene polymorphisms in the Pakist...

Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual function prior to age 40. POF presents as hypergonadotropic hypogonadism and can be part of a syndrome or occur in isolation. Here, we studied 3 sisters with pr...

Background The signal transducer and activator of transcription 6 (STAT6) transduces signals in response to IL-4 and IL-13 cytokine stimulations, resulting in many cell-specific responses. Some common STAT6 SNPs were associated with asthma predisposition and/or IgE levels, although discrepancies have also been reported. Objective To determine whet...

Aflatoxins are of serious concern for poultry industry and human beings as well. The deleterious effects of aflatoxins beyond the level of 20 ppb significantly inhibit the growth and productive performance of poultry. The present project was designed to study the effect of Aflatoxin B1 in various edible tissues of Gallus domesticus at the stage of...

Soybean meal is considered to be the most desirable protein source for poultry on account of its high biological value. Various oilseed meals are available in abundant quantity in the country, which can replace soybean meal. The project was designed with the aim and objective to replace soybean meal with canola and sunflower meal in Gallus domestic...

A study was conducted to determined the effect of replacement of soybean meal (SBM) with locally available oilseed meals i.e. Canola (CM) and Sunflower meal ( SFM ) on performance of broiler chicks. Five different experimental rations A, B, C, D and E containing SBM 15%, SBM and CM 7.5% each, CM 15%, SBM 7.5% plus 3.75% CM and SFM each and SFM 15%...