Current Trends in OMICS

Pathogenicity Prediction of Potential Variants in TULP1 Gene causing Hereditary RP: An In-silico Approach

Faryal Sadiq — Mon, 16 Dec 2024 07:43:45 +0000

Retinitis Pigmentosa (RP) is a term used to describe a group of eye disorders related to retina damage. Due to the formation of bone spicules inside the retina of the affected individuals, patients suffer from poor eye vision or complete blindness, rarely. The reason of the disease could be genetic defects or environmental factors, for instance comorbidity, light exposure, and ethnicity. Tubby-like protein (TULP1) is expressed in the retina of the eye, specifically inside rod and cone cells, and mutations inside the gene can cause changes in structure and function of photoreceptor cells. The current study may provide new insights to understand the genetic variations found in TULP1 gene from the genomic to proteomic level, thus predicting the highly pathogenic variations causing RP. Different bioinformatic tools employing different algorithms were used to score the pathogenic variants, hence cross validating the results. Twenty (20) pathogenic missense variants which can destroy the protein structure as discussed in the study, thirteen (13) splice site variants, and lastly, nine (9) frameshift, seven (7) stop-gained variants were concluded as highly pathogenic for the candidate gene.

Evolutionary Dynamics of Polintons: A Rarely Investigated Superfamily of DNA Transposons

Muhammad Umair Khan, Faisal Nouroz, Amina Waheed, Shumaila Noreen — Thu, 10 Oct 2024 00:00:00 +0000

Polintons, also known as ‘Maverick’ is a rarely investigated superfamily of DNA transposons. Although, discovered in recent decades, these elements are now found in several eukaryotic genomes due to the advancements and expansions in genome sequencing projects. The current study was conducted to investigate the evolutionary genomics and distribution of Polintons in various genomes. Approximately, 102 Polinton elements from various species were collected from Repbase – GIRI database. They have shown a high structural diversity and ranged in sizes from 03 to 42kb. The phylogenetic relationship and evolutionary history of the Polinton superfamily was investigated using bioinformatics software. Phylogenetic trees were created based on two major protein coding domains, such as RVE integrase and DNA POL B. In both cases, the sequences were clustered in 2 clades, several sub-clades, and groups with variable number of elements in each group. The cladograms represented the extensive genetic diversity and evolutionary history of these elements and allowed to observe the intricate branching patterns and relationships within the Polinton superfamily. The cladogram provides a roadmap to explore the relationships and dynamics of the Polinton superfamily in detail. The current study aimed to enhance the understanding of evolutionary dynamics of Polintons found in different organisms.

Current Situation of Breast Cancer in Pakistan and the Dire Need of Early Diagnosis

Najeeb Ullah Khan, Bibi Maryam Khan, Imad Azam, Atif Hayat — Wed, 20 Mar 2024 00:00:00 +0000

Globocan statistics underscore Pakistan’s noticeable position in terms of the breast cancer burden, highlighting a concerning and escalating trajectory in its daily progression. Breast cancer stands as the most predominant and fatal malignancy in Pakistan, reporting 25,928 cases in the year 2020, accounting for 14% of all cancer diagnosis. The country is reported to have the maximum incidence and mortality rates in Asia, a dire result of the lack of national cancer registry. Late diagnosis, often determined by sociocultural factors, considerably contributes to the high mortality rate. Several risk factors, such as reproductive factors, age, dietary habits, further complicate the situation. Moreover, economic obstacles deter many from receiving the required treatment. The current review features the dire need for inclusive policies and improved affordability to battle breast cancer’s escalating influence in Pakistan.

Detection of Single Nucleotide Polymorphism (SNP) rs2235371 of IRF6 Gene in Patients with Non-Syndromic Cleft Lip and Palate

Kifayat Ullah, Tooba Komal, Ghafran Ali — Tue, 05 Mar 2024 00:00:00 +0000

The orofacial clefts are the most common structural birth defects among newborn babies. They consist of two groups, namely Cleft Palate (CP) and Cleft Lip (CL). Infants born with clefts have considerable problems during communication, swallowing, and face certain challenges due to facial deformity. These problems remain throughout the life if not treated and entail long-lasting effects on the health and social life of an individual. Untreated infants need special care as they have higher morbidity and mortality rates. The primary objective of this study is to detect the Single Nucleotide Polymorphism (SNP) rs2235371 within the IRF6 gene and assess its potential association in patients diagnosed with Non-Syndromic Cleft Lip/Palate (NSCL/P). The participants were selected through a non-probability sampling technique, specifically the purposive sampling method. In accordance with this approach, a total of 50 patients afflicted with NSCL/P, representing both the genders, were sampled. Furthermore, to establish a comparative baseline, an additional 50 healthy individuals were also recruited to serve as the control group. After taking their informed consent, blood was collected in EDTA vials. PCR (Polymerase Chain Reaction) and RFLP were performed on each sample to find SNP. After sample collection, processing, and analysis, SPSS (20.00 version) was used to analyze all previously generated data. After sample analysis, 72% of CL/P (cleft lip and palate) patients were found to have SNP with or without a family history. The association of SNP rs2235371 with disease was measured by applying chi-square. The results provided no evidence of the association between given SNP and disease. As compared to previous research, this study showed a low frequency of SNP rs2235371 in patients with NSCL/P. To get a better understanding of the association of SNP rs2235371 with NSCL/P, large-scale research with an increased sample size should be conducted.

Coronavirus Epidemiology, Diagnosis, and Vaccination Statistics in Pakistan, China, and India: A Brief Review

Tue, 05 Mar 2024 00:00:00 +0000

The global population has witnessed significant disruptions towards healthcare systems due to the Coronavirus pandemic. The World Health Organization (WHO) has designated it as a global health concern. Certain viruses within the Coronaviridae family predominantly inflict damage upon the respiratory system. The symptoms of infection may vary in severity, ranging from mild to severe, and in certain cases, can even lead to fatality. The most commonly observed symptoms include pyrexia, dyspnea, rigours, and gastrointestinal disturbances. Presently, COVID-19 stands as the prevailing subject of investigation within the academic community. The objective of the current study was to consolidate the present comprehensive material in a single source, hence enhancing the fundamental comprehension necessary for subsequent research endeavors.

Unveiling the Secrets of Obesity with Machine Learning (ML) Techniques/Algorithms

Abdur Rauf, Muhammad Ammar, Mahnoor Azhar, Nasreen Noor, Syeda Marriam Bakhtiar — Sun, 03 Mar 2024 00:00:00 +0000

Obesity is the most significant health threat all over the world as it is considered the mother of all diseases. Recent decades have witnessed an extensive shift towards sedentary lifestyles including adaptation to luxury modes of transportation, processed food, lack of physical activities, and prolonged screen times. The trend of using cars and motorcycles to travel even short distances has emerged as a critical component in Pakistan's obesity pandemic. Whenever the causes of obesity are discussed, the focus remains always on processed food and genetic factors. This study is an effort to exploit a machine-learning-based pathway to predict the major causes of obesity using machine learning (ML) algorithms. For this research, a dataset of 2,111 instances of various age groups and lifestyles was employed. For analysis, three efficient ML algorithms known as k-nearest neighbor (k-NN or KNN), support vector machine (SVM), and decision tree (DT) were utilized. It was observed that the excessive use of personal transport and comparatively limited availability and use of public transport has been a significant cause of obesity in Class II and III obese individuals. From the experimental results, strong association rules with minimum confidence value of 25% and maximum support value of 80% were obtained. Also, DT with random forest technique was found to have the highest accuracy of 90.36%, with the recall factor value of 98.73%. This signifies the fact that sedentary lifestyle and mode of transportation have a significant impact on rising obesity level.

Diversity Analysis of Catechol 2, 3-dioxygenase in POPs Metabolizing Bacteria using In-silico Approach

Fatima Muccee — Tue, 26 Dec 2023 00:00:00 +0000

The persistent nature of persistent organic pollutants (POPs), lipophilicity, and volatility has resulted in their high concentration, not only in environmental resources but also in living organisms. Their complete removal is possible only by mineralization using enzyme-based strategies. Catechol 2, 3-dioxygenase is reportedly involved in the degradation of a wide variety of POPs. This study was designed to determine the diversity of this enzyme among highly efficient bioremediating bacteria. Seven bacteria belonging to genera acinetobacter, pseudomonas, burkholderia, stutzerimonas, and paraburkholderia were targeted. Sequences of the enzyme were retrieved from Uniprot database and analyzed via ProtParam, CELLU, and SOPMA tools and AlphaFold database. The enzyme was found to be cytoplasmic. The physicochemical properties of the enzyme were recorded as pI 4.75 – 5.50, aliphatic index (73.41 – 88.55), instability index (24.98 – 43.37), and GRAVY (-0.209 – 0.511). The secondary structure attributes were recorded to be α-helix (30.13 – 37.30), extended strand (18.27 – 21.54), β-turn (5.14 – 6.95), and random coil (38.33 – 42.95). All the proteins showed complex folding except in Pseudomonas sp strain EST1001. These properties may be exploited during the selection, purification, manipulation, and cloning of the enzyme for efficient bioremediation.

Reducing Multidrug-Resistant (MDR) Klebsiella pneumoniae via the Efficient Use of Bacteriophages ZI3 and HI3

Wed, 20 Dec 2023 00:00:00 +0000

Klebsiella pneumoniae is a common cause of multidrug-resistant (MDR) pneumonia, bacteremia, urinary tract infections (UTIs), and other systemic infections. K. pneumoniae is the third most common pathogen in blood cultures from sepsis patients. It can cause severe epidemic and endemic nosocomial infections. Antibiotic treatment of K. pneumoniae infections is getting increasingly challenging due to the development of antimicrobial resistance among pathogens. Hence, a new alternative strategy is required to treat such infections. Bacteriophages are the most prevalent biological entity on the planet with an estimated 10³¹ particles. As obligatory intracellular parasites, they infect bacterial cells. They have a high host specificity and can replicate and lyse bacterial cells. In this research, two novel indigenous bacteriophages against K. pneumoniae strain kp8890 were isolated, characterized, and labeled as ZI3 and HI3. Both these phages were found to have a specific host range for K. pneumoniae. HI3 was able to lyse 7 out of 10 different K. pneumoniae clinical isolates, while ZI3 was able to lyse 5 out of 10 isolates, although it could not infect bacteria from other species. The isolated phages showed viability up to 50°C and pH ranging from 3 to 9. HI3 inhibited bacterial growth for 18 hours. Whereas, ZI3 showed an excellent bacterial reduction ability by inhibiting and decreasing the number of initial bacterial inoculum for 24 hours of observation. Keeping in view the excellent bacterial growth reduction, phage titer, pH and thermal stability, and host range, it is suggested that both bacteriophages, that is, ZI3 and HI3 can be potential phage therapy candidates after necessary animal modeling and clinical trials in the future.

Detection of DNA Damage in Fish using Comet Assay

Thu, 02 Nov 2023 00:00:00 +0000

Heavy metals have an enduring presence, risky characteristics, and the propensity to accumulate in the environment. This is why heavy metal toxics are widely acknowledged as harmful environmental pollutants. Heavy metals damage both aquatic and terrestrial ecosystems, posing a major risk to the environment and human health. Four freshwater fish species namely Labeo rohita, Catla catla, Hypophthalmichthys molitrix, and Ctenopharyngodon idella were the focus of this investigation. This study investigated the potential genotoxic effects of lead (Pb), copper (Cu), and cadmium (Cd) on the above fish species through the application of comet assay test. The fish were exposed to these metals at four distinct concentrations (19%, 24%, 31%, and 50% of the LC₅₀) over the course of 40 days. All four fish species were exposed to metals to varying degrees, according to the genetic damage index, cumulative tail length of comets, and the proportion of damaged cells. In contrast to Catla catla, Hypophthalmichthys molitrix had the highest prevalence of DNA damage. The current study suggests that the presence of these particular metals in Pakistan's aquatic ecosystems may have an adverse effect on the DNA of the country's fish species. Metals cause damage to DNA in fibroblast cells through distinct mechanisms when present in water, air, and soil. Comet assay test has a remarkable sensitivity that helps to identify extremely low amounts of DNA damage. Out of the four fish species, Ctenopharyngodon idella showed higher levels of damaged cells, a higher genetic damage index, and a cumulative comet tail length as compared to others. All four fish species experienced a significant increase in DNA damage, genetic damage index, and comet tail length at 50% concentration of metals LC_50.

Antioxidant and Antimicrobial Activity of Cuscuta reflexa ROXB. and Few Members of Family Convolvulaceae

Qumqum Noshad, Muhammad Ajaib, Aysha Kiran — Fri, 25 Aug 2023 00:00:00 +0000

Antioxidant activity of 12 species, of which one was Cuscuta reflexa Roxb. which belongs to the family of Cuscutaceae as well as 11 of Convolvulaceae, collected from district Bhimber, Mirpur and Kotli were measured by using ABTS, DPPH and FRAP assay. The total phenol and flavonoid contents of the whole plant of all the selected species were investigated. Ipomoea eriocarpa showed a comparatively higher amount of total polyphenols (0.98 ± 0.073 mg/gdw). The maximum DPPH value was shown by Ipomoea carnea Jacq (5.6%) and the minimum value was shown by Convolvulus arvensis L. extracts (3.0 %). ABTS was the highest by Convolvulus prostrastus and the lowest by Ipomoea carnea. In FRAP assay, the highest value was 2.75 by Ipomoea hederacia and the lowest value was 0.31 by I. arachnosperma Welw. The antifungal and antibacterial activity of the methanolic extracts of the whole plant of all the selected species was carried out by using both bacterial and fungal strains. Two gram positive bacteria namely Staphylococcus aureus and Bacillus subtilis, two gram negative bacteria namely E. coli and Pseudomonas aeruginosa, two fungal strains of Aspergillus niger and Aspergillus oryzae were used to carry out antimicrobial activity. For the comparison of inhibition zones showed by plant extracts against bacterial and fungal strains. Erythromycin, tetracycline and cefoparazone were used as standard for bacterial strains. Moreover, fungivine and Terbinafine were used as standard antibiotics against fungal strains. Among fungal strains, the highest zone of inhibition was shown by Cuscuta reflexa Roxb. extract against Aspergillus niger, that is 5.55±0.3, while the lowest zone of inhibition, that is, 0.60±0.28mm was shown by Evolvulus alsinoides (L.) extract against Aspergillus oryzae. Plants from the Convolvulaceae family have had frequent traditional uses for different therapeutic purposes. Furthermore, all plants selected for this study showed strong antimicrobial, antifungal, and antioxidant activity. Their further detailed phytochemical studies can help to develop plant-based therapeutic agents

MicroRNAs: An Overview of their Discovery, Biogenesis, Computational Prediction, and Potential Clinical Applications

Iqra Kainat, Sara Khan, Anam Zahra, Misbah Saleem — Fri, 25 Aug 2023 00:00:00 +0000

The invention of next generation technologies which are aimed to resolve human health issues is gaining importance. Micro-RNAs (miRNAs) analysis is are an important discovery in the field of molecular biology. miRNAs are small endogenous RNAs which are involved in the regulation of post-transcriptional genes expression. They have been identified in different organisms, such as viruses, plants, human beings, and animals by using computational analysis tools. miRNAs are best predicted by next generation sequencing. They play a role as potential biomarkers in developmental processes. They are important therapeutic agents which play their role in diseases, such as cardiovascular, autoimmune, cancer, and neural degenerative diseases. The current study aimed to explore miRNAs and their clinical applications. For this purpose, miRNAs were analyzed as therapeutic agents and molecular biomarkers.

Effect of CYP2C9 rs2860905 Polymorphism on the Efficacy of Losartan in Pakistani Hypertensive Patients

Qurat Ul Ain Haider, Hafsa Saeed , Wajiha Ikram, Usama Ikram, Misbah Hussain — Fri, 25 Aug 2023 00:00:00 +0000

Hypertension is a multifactorial disease characterized by high blood pressure in blood vessels. It is caused by the dysregulation of renin angiotensin aldosterone system (RAAS). It is a major risk factor for other metabolic diseases including cardiovascular diseases, diabetes, and others. Various RAAS targeting drugs such as losartan are prescribed as the first line therapy to treat hypertension. However, their efficacy varies among individuals owing to genetic variations in drug binding substrates or drug metabolizing enzymes, which convert the prodrug to active drug. CYP2C9 gene encodes for an enzyme which metabolizes losartan. Various studies have concluded that genetic variations in CYP2C9 affect the response of losartan due to the variation in its metabolism. Thus, the current study aimed to check the effect of CYP2C9 rs2860905 G>A polymorphism on the efficacy of losartan. For this purpose, a total of 48 subjects were selected and genotyped for rs2860905 polymorphism using in-house developed tetra-ARMS-PCR. The subjects were divided into responding (n=34) and non-responding (n=14) groups on the basis of their blood pressure after treatment with losartan. Statistical analysis demonstrated that rs2860905 GG genotype was more prevalent in the responding group as compared to the non-responding group (50% vs. 36%). Multinomial regression analysis showed that the carriers of GA or AA genotype did not respond to losartan treatment efficiently as compared to those of GG genotype. However, these results could not achieve statistical significance. To conclude, CYP2C9 rs2860905 G>A polymorphism does not affect the efficacy of losartan in Pakistani hypertensive subjects.

Identification and Analysis of Hub Genes and Biological Pathways Involved in Alzheimer’s Disease (AD) Using Transcriptomics Dataset

Humaira Amin, Asghar Shabbir, Khuram Shahzad — Fri, 25 Aug 2023 00:00:00 +0000

Alzheimer’s disease (AD) is an irreversible and progressive neurodegenerative disorder. The brain mechanisms involved in this disease remain largely unknown. Hence, this study used the integrated bioinformatics approach to analyze a high throughput sequencing dataset (GSE162873) in order to identify the potential biomarkers involved in the pathophysiology of this disease. DESeq2 package was used for the identification of differentially expressed genes (DEGs) from both healthy and diseased patients. DAVID, a web-based bioinformatics resource, was used to perform functional enrichment analysis. StringApp plugin in Cytoscape was utilized to construct the protein-protein interaction (PPI) networks, whereas hub genes were identified through cytoHubba. MCODE was used to perform module analysis, ClueGO to evaluate the KEGG pathways enriched in modules, and miRNet platform for the interaction analysis of miRNAs and hub genes. Drug-genes interaction analysis was performed using DGIdb resource to find out the related drugs. A total of 652 DEGs were screened which were significantly enriched in GO terms. KEGG pathways analysis showed that PI3K-Akt signaling, hippo signaling, MAPK signaling, TGF-beta signaling, and sphingolipid signaling were significantly enriched pathways. A total of 12 hub genes were found to be significantly interacting with miR-603, miR-10b-5p, miR-124-3p, and miR-1-3p, and some FDA approved drugs. The current study provided an insight into the molecular mechanisms of AD and identified some potential biomarker genes, their pathways, miRNAs, and drugs which might be useful for diagnostic and therapeutic purposes.

Genetic Correlation of Conformation Traits with Semen Traits in Chinese Holstein Bulls: A Preliminary Investigation

Jian Yang, Xiao Wang, Jie Xue, Yundong Gao, Jianbin Li — Fri, 25 Aug 2023 00:00:00 +0000

The current study conducted a preliminary investigation of genetic correlations in Chinese Holstein bulls to improve their semen quantity and quality by indirect selection of conformation traits. The results of seven semen traits and nine conformation traits showed that the heritability estimates of semen traits ranged from 0.24 (post-thaw motility) to 0.63 (volume per ejaculation), while the conformation traits ranged from 0.29 (pin width) to 0.80 (withers height). Phenotypic correlation between scrotal circumference (SC) and semen concentration per ejaculation (SCPE), SC and total number of sperm per ejaculation (TNS), and SC and total number of motile sperm per ejaculation (TNMS) was 0.22, 0.25, and 0.24, respectively. Genetic correlation between SC and SCPE, SC and TNS, and SC and TNMS was 0.41, 0.40, and 0.38, respectively. To summarize, moderate or high heritability of semen traits indicated that genetic improvement of semen quality by selection is feasible, where SC could be a useful trait for indirect selection or as correlated information to improve semen quantity and production.

Current State of Artificial Intelligence (AI) in Oncology: A Review

Aqib Ali, Samreen Naeem, Sania Anam, Muhammad Munawar Ahmed — Thu, 15 Jun 2023 00:00:00 +0000

Artificial intelligence (AI) has made significant strides in recent years toward resolving a wide range of biological issues, including a number of occurrences connected to cancer. Deep learning is an adaptable sector of AI that enables the automatic extraction of features. It is increasingly being used in various fields of cancer research, both scientific and clinical. In this study, several current applications of AI in oncology, including the situations in which deep learning has effectively addressed intractable disputes, are discussed. This study also discusses the challenges that need to be surmounted before such an application of AI may be implemented more broadly. Similarly, it brings to light resources and data sets that can assist in maximizing the potential of AI. Essential insights in oncology may be generated based on the development of novel methodologies and uses of AI, making it possible for substantial changes to be made to clinical practice.

In Silico Analysis to Predict the Pathogenic Variants of CANT1 Gene Causing Desbuquios Dysplasia (DBQD) Type 1

Thu, 15 Jun 2023 00:00:00 +0000

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia that belongs to the multiple dislocation group and causes parental and afterbirth growth retardation, hand and proximal femur abnormalities, joint laxity, and scoliosis. Several missense and splice site mutations in CANT1 gene are linked with the development of DBQD. In silico approaches can predict the pathogenic variations causing hereditary diseases. Hence, in the current study, in silico analysis was used to forecast the variants of CANT1 gene that harm the functionality of calcium-dependent nucleotidase. A total of 281 variants with uncertain significance, retrieved from the gnomAD, dbSNP, ClinVar, and Variation Viewer databases, were analyzed using CADD, Meta SNP, CAPiCE, and Condel to predict 61 highly pathogenic variants. Stability change predicting computational tools were applied to filter 19 highly pathogenic amino acid variants that impact protein dynamics via sample conformation or during vibrational entropy. UCSF Chimera was used for interactive visualization and analysis of unwanted interaction among 5 variants in the molecular structure of the protein. Ligand binding computational tools were used to interpret the protein-ligand interactions. A total of three (3) post-translational modification sites were also predictably disrupted by 16 variants. Spice and HSF 3.1 tools were applied to 95 variants to check their disease-causing potential. The variants of the gene were analyzed using computational tools based on different algorithms. The most damaging variants of CANT1 gene that can affect the functionality and stability of the protein were predicted. It was determined that an extensive in silico analysis can determine the likely pathogenic variations for further in vitro experimental analysis.

Morphological and Genetic Identification of Head Taunsa Barrage Fish Species

Thu, 15 Jun 2023 00:00:00 +0000

The current study aims to construct a thorough barcoding reference database of fishes in the Head Taunsa Barrage and assess the usefulness of employing the COI gene for fish species identification. A total of 15 genera, 10 families, and 7 orders of fish were used to collect a total of 19 mitochondrial COI barcode sequences. These sequences had an average length of 800 base pairs. Within species, genera, families, orders, and classes, the average Kimura two-parameter (K2P) distances were 0.97%, 0.99%, 1.23%, and 1.26%, respectively. According to their taxonomic classification, species were commonly clustered in the K2P neighbor-joining trees based on the sequence. DNA barcoding was employed in this study to identify species with a high degree of accuracy. Moreover, it was concluded that COI sequencing can be used to recognize fish species.

Development of T-ARMS-PCR to Detect MYBPC3 Gene Variation in Hypertrophic Cardiomyopathy (HCM) Patients

Haleema Sadia, Waqas Ahmed Khan, Misbah Hussain, Iqra Murtza — Thu, 15 Jun 2023 00:00:00 +0000

Hypertrophic cardiomyopathy (HCM) is a common and complex, genetically inherited, cardiovascular disorder. It is typically inherited in an autosomal dominant manner with variable penetrance and mutable expression. Mutations in MYBPC3 gene is one of the genetic causes of HCM. Only 0.2% of general population suffers from HCM. The MYBPC3 gene provides instructions for making cardiac myosin binding protein C, which is imperative for the maintenance and regulation of normal cardiac functions. This study aims to explore the reported SNP rs1052373 from exon 30 of MYBPC3 gene in the population of Punjab, Pakistan. The reported SNP rs1052373 was analysed using Tetra Amplification Refractory Mutation System Polymerase Chain Reaction (T-ARMS-PCR) to find the allelic frequency in the selected population. T-ARMS-PCR is a cost effective, flexible, rapid, and accurate tool for genotyping. The specific sequences of MYBPC3 gene from exons 30 and 31 and introns 29, 30, and 31 were retrieved from NCBI (https://www.ncbi.nlm.nih.gov/). A tetra primer designing tool known as Primer 1 (http://primer1.soton.ac.uk/primer1.html) was used to design the primers for the targeted region of MYBPC3 gene. In this study, the genotyping of previously reported SNP rs1052373 showed variation in the disease group, giving CC, CT, and TT genotypes with the frequency of 0.04. The genotyping analysis of rs1052373 showed that the allelic frequency of homozygous condition T/T was 0.02 and the allelic frequency of heterozygous condition C/T was 0.02 in disease group as compared to the control group. In the latter, the homozygous T/T and heterozygous C/T genotypes were not observed in any individuals. All the individuals in control group carried homozygous C/C genotype. While, the frequency of homozygous C/C genotype was 0.96 in disease group. The findings of this study would help to find novel molecular markers for HCM diagnosis.

Phenotypic and Genotypic Detection of Virulence Factors Affecting Proteus mirabilis Clinical Isolates

Thu, 15 Jun 2023 00:00:00 +0000

The current study attempts the phenotypic and molecular detection of the virulence factors of Proteus mirabilis clinical isolates. A total of 600 urine samples were collected from urinary tract-infected patients at Khyber Teaching Hospital, Peshawar, Pakistan. P. mirabilis isolates were identified through different biochemical tests. Virulence factors including urease production, biofilm formation, and swarming phenomenon were determined by using different markers (ureC1, rsbA, and luxS genes), identified via the polymerase chain reaction (PCR) technique. Out of the selected samples, 95 samples (15.83%) were identified as P. mirabilis. The molecular study showed that all isolates (100%) possessed the ureC gene. Whereas, 90.52% and 92.63% of the isolates gave positive results for biofilm formation (rsbA gene) and swarming phenomenon (luxS gene), respectively. The phenotypic and molecular study of P. mirabilis virulence factors provides a better understanding of how P. mirabilis infection spreads. The results could be used for prevention and improvements in its clinical treatment.

Current Antibiotics Resistance Patterns of Salmonella typhi in District Peshawar, Khyber Pakhtunkhwa, Pakistan

Tue, 21 Feb 2023 00:00:00 +0000

Salmonella infection is most common in developing countries. In the current study, the prevalence and resistance pattern of Salmonella typhi from April, 2021 to March, 2022 in District Peshawar, Pakistan was identified/traced. Out of a total of 210 patients, 89 (43%) were found positive for S. typhi. Of these, 47 (52.8%) were men and 42 (47.2%) were women. The current study was conducted in four different sessions. It showed that nalidixic acid is the leading resistant drug. No significant differences were observed in antibiotics resistance with respect to age and gender (p≥0.05). To conclude, highly observed prevalence of S. typhi is a serious health concern. It was also concluded that season has no effect on the resistance pattern