Buckling analysis of plates reinforced by Graphene platelet based on Halpin-Tsai and Reddy theories

Rasool Javani,Mahmood Rabani Bidgoli,Reza Kolahchi 국제구조공학회 2019 Steel and Composite Structures, An International J Vol.31 No.4

In this paper, buckling analyses of composite plate reinforced by Graphen platelate (GPL) is studied. The Halphin- Tsai model is used for obtaining the effective material properties of nano composite plate. The nano composite plate is modeled by Third order shear deformation theory (TSDT). The elastic medium is simulated by Winkler model. Employing nonlinear strains-displacements, stress-strain, the energy equations of plate are obtained and using Hamilton’s principal, the governing equations are derived. The governing equations are solved based on Navier method. The effect of GPL volume percent, geometrical parameters of plate and elastic foundation on the buckling load are investigated. Results showed that with increasing GPLs volume percent, the buckling load increases.

Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability

Iqra Ghulam Rasool,Muhammad Yasir Zahoor,Muhammad Iqbal,Aftab Ahmad Anjum,Fatima Ashraf,Hafiz Qamar Abbas,Hafiz Muhammad Azhar Baig,Tariq Mahmood,Wasim Shehzad 한국유전학회 2021 Genes & Genomics Vol.43 No.5

Background Intellectual disability (ID) is a heterogeneous disorder afecting 1–3% of the population. Elucidation of monogenic variants for ID is a current challenge. These variants can be better demonstrated in consanguineous afected families. Objective The study was designed to fnd the genetic variants of ID in consanguineous families. Methods We analyzed fve unrelated consanguineous Pakistani families afected with ID using whole exome sequencing (WES). Data was analyzed using diferent bioinformatics tools and software. Results We mapped four variants including three novels in four diferent ID known genes. Each variant is found in a different family, co-segregating with a recessive pattern of inheritance. The novel variants found are; c. 2_4del (p.?) mapped in ROS1 and c. 718G>A (p.Gly240Arg) in GRM1. Another novel causative variant, c.2673del (p.Gly892Aspfs*17) identifed in COL18A1 in a recessive form, a gene reported for Knobloch syndrome that manifests ID along with typical retinal abnormalities, and this phenotype was confrmed on reverse phenotyping. A mutation c.2134C>T (p.Arg712*) in TRAPPC9 has been found frst time in the homozygous recessive form in our enrolled three afected siblings while it was previously reported in compound heterozygous form in a Caucasian descent. While ffth family remained unsolved. Conclusion These mutations in four diferent genes with a recessive inheritance would be a contribution to the disease variant database of this devastating disorder.

Resistance Patterns of Frequently Applied Antimicrobials and Occurrence of Antibiotic Resistance Genes in Edwardsiella Tarda Detected in Edwardsiellosis-Infected Tilapia Species of Fish Farms of Punjab in Pakistan

Manzoor Kashif,Rasool Fayyaz,Khan Noor,Anjum Khalid Mahmood,Parveen Shakeela 한국미생물·생명공학회 2023 Journal of microbiology and biotechnology Vol.33 No.5

Edwardsiella tarda is one of the most significant fish pathogens, causes edwardsiellosis in a variety of freshwater fish species, and its antibiotic resistance against multiple drugs has made it a health risk worldwide. In this study, we aimed to investigate the antibiotic resistance (ABR) genes of E. tarda and establish its antibiotic susceptibility. Thus, 540 fish (299 Oreochromis niloticus, 138 O.mossambicus, and 103 O. aureus) were collected randomly from twelve fish farms in three districts of Punjab in Pakistan. E. tarda was recovered from 147 fish showing symptoms of exophthalmia, hemorrhages, skin depigmentation, ascites, and bacteria-filled nodules in enlarged liver and kidney. Antimicrobial susceptibility testing proved chloramphenicol, ciprofloxacin, and streptomycin effective, but amoxicillin, erythromycin, and flumequine ineffective in controlling edwardsiellosis. Maximum occurrence of qnrA, blaTEM, and sul3 genes of E. tarda was detected in 45% in the liver, 58%, and 42% respectively in the intestine; 46.5%, 67.2%, and 55.9% respectively in O. niloticus; 24%, 36%, and 23% respectively in summer with respect to fish organs, species, and season, respectively. Motility, H2S, indole, methyl red, and glucose tests gave positive results. Overall, E. tarda infected 27.2% of fish, which ultimately caused 7.69% mortality. The Chi-squared test of independence showed a significant difference in the occurrence of ABR genes of E. tarda with respect to sampling sites. In conclusion, the misuse of antibacterial agents has led to the emergence of ABR genes in E. tarda, which in association with high temperatures cause multiple abnormalities in infected fish and ultimately resulting in massive mortality.

A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi family

Muhammad Imran Naseer,Mahmood Rasool,Osama Yousef Muthaffar,Abdulrahman J. Sabbagh,Adeel G. Chaudhary,Mohammad H. Al‑Qahtani 한국유전학회 2017 Genes & Genomics Vol.39 No.12

Primary microcephaly (MCPH) is a rare developmental defect characterized by impaired cognitive functions, retarded neurodevelopment and reduced brain size. It is genetically heterogeneous and so far more than 17 genes associated with this disease have been identified. Primary microcephaly type 1 (MCPH1) gene encodes a protein called microcephalin, which is implicated in chromosome condensation and DNA damage induced cellular responses. It is suggested to play a role in neurogenesis and regulation of the size of the cerebral cortex. Whole exome sequencing revealed a novel, homozygous frameshift mutation (c.373_374delAA) in MCPH1 gene in exon 5 resulting in frameshift change from p.Lys125Glusfs*7. Our report presents the results of the simultaneous analysis of the trio exome data of both unaffected parents and their affected son. A homozygous frameshift variant in the MCPH1 gene was identified as a plausible candidate causal variant for the clinical phenotype in this family.

A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family

Neelam Sultan,Irfan Ali,Shazia Anwer Bukhari,Shahid Mahmood Baig,Muhammad Asif,Muhammad Qasim,Muhammad Imran Naseer,Mahmood Rasool 한국유전학회 2018 Genes & Genomics Vol.40 No.5

Retinitis pigmentosa (RP) is the most frequent genetically and clinically heterogeneous inherited retinal degeneration. To date, more than 80 genes have been identified that cause autosomal dominant, autosomal recessive and X linked RP. However, locus and allelic heterogeneity of RP has not been fully captured yet. This heterogeneity and lack of an accurate genotype phenotype correlation makes molecular dissection of the disease more difficult. The present study was designed to characterize the underlying pathogenic variants of RP in Pakistan. For this purpose, a large consanguineous family with RP phenotype showing autosomal recessive mode of inheritance was selected after a complete ophthalmological examination. Next generation sequencing was used for the identification of molecular determinant followed by Sanger-sequencing for confirmation. After sequence analysis a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM: 601617) was identified. This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene. The same mutation was not detected in the 200 ethnically-matched control samples by Sanger sequencing. The identified mutant allele segregated in homozygous fashion in all the affected individuals of pedigree. Identification of this mutation reveals the allelic heterogeneity of RDH5 in patients with RP phenotype. The findings of this study demonstrate the clinical significance of next generation sequencing to understand the molecular basis of diseases and would help to reveal new proteins and their function in visual cycle will pave the way for early diagnosis, genetic counseling and better therapeutic inventions.

Five Most Common Prognostically Important Fusion Oncogenes are Detected in the Majority of Pakistani Pediatric Acute Lymphoblastic Leukemia Patients and are Strongly Associated with Disease Biology and Treatment Outcome

Awan, Tashfeen,Iqbal, Zafar,Aleem, Aamer,Sabir, Noreen,Absar, Muhammad,Rasool, Mahmood,Tahir, Ammara H.,Basit, Sulman,Khalid, Ahmad Mukhtar,Sabar, Muhammad Farooq,Asad, Sultan,Ali, Agha Shabbir,Mahmoo Asian Pacific Journal of Cancer Prevention 2012 Asian Pacific journal of cancer prevention Vol.13 No.11

Background and Objectives: Acute lymphoblastic leukemia (ALL) is a complex genetic disease involving many fusion oncogenes (FO) having prognostic significance. The frequency of various FO can vary in different ethnic groups, with important implications for prognosis, drug selection and treatment outcome. Method: We studied fusion oncogenes in 101 pediatric ALL patients using interphase FISH and RT-PCR, and their associations with clinical features and treatment outcome. Results: Five most common fusion genes i.e. BCR-ABL t (22; 9), TCF3-PBX1 (t 1; 19), ETV6-RUNX1 (t 12; 21), MLL-AF4 (t 4; 11) and SIL-TAL1 (del 1p32) were found in 89/101 (88.1%) patients. Frequency of BCR-ABL was 44.5% (45/101). BCR-ABL positive patients had a significantly lower survival ($43.7{\pm}4.24$ weeks) and higher white cell count as compared to others, except patients with MLL-AF4. The highest relapse-free survival was documented with ETV6-RUNX1 (14.2 months) followed closely by those cases in which no gene was detected (13.100). RFS with BCR-ABL, MLL-AF4, TCF3-PBX1 and SIL-TAL1 was less than 10 months (8.0, 3.6, 5.5 and 8.1 months, respectively). Conclusions: This is the first study from Pakistan correlating molecular markers with disease biology and treatment outcome in pediatric ALL. It revealed the highest reported frequency of BCR-ABL FO in pediatric ALL, associated with poor overall survival. Our data indicate an immediate need for incorporation of tyrosine kinase inhibitors in the treatment of BCR-ABL+ pediatric ALL in this population and the development of facilities for stem cell transplantation.

Detection of BCR/ABL Fusion Gene by Hematological and Cytogenetical Analysis in Chronic Myeloid Leukemia Patients in Quetta, Pakistan

Tahira, Bibi,Asif, Muhammad,Khan, Samiullah,Hussain, Abrar,Shahwani, Muhammad Naeem,Malik, Arif,Inayatullah, Syed,Iqbal, Zafar,Rasool, Mahmood Asian Pacific Journal of Cancer Prevention 2015 Asian Pacific journal of cancer prevention Vol.16 No.9

Background: Chronic myeloid leukemia (CML) is a myeloproliferative disorder of pluripotent stem cells, caused by reciprocal translocation between the long arms of chromosomes 9 and 22, t(9;22)(q34;q11), known as the Philadelphia chromosome. Materials and Methods: A total of 51 CML patients were recruited in this study. Complete blood counts of all CML patients were performed to find out their total leukocytes, hemoglobin and platelets. FISH was performed for the detection of BCR-ABL fusion and cryptogenic tests using bone marrow samples were performed for the conformation of Ph (9;22)(q34;q11) and variant translocation mechanisms. Results: In cytogenetic analysis we observed that out of 51 CML patients 40 (88.9%) were Ph positive and 4 (8.88%) had Ph negative chromosomes. Mean values of WBC 134.5 $10^3/{\mu}l$, hemoglobin 10.44 mg/dl, and platelets 288.6 $10^3/{\mu}l$ were observed in this study. Conclusions: In this study, Ph positive translocation between chromosome (9:22)(q34;q11) were observed in 40 (88.9%) CML patients.