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Background: BRCA1 and BRCA2 (BRCA1/2) are the most frequently investigated genes among Caucasian pancreatic cancer patients, whereas limited reports are available among Asians. We aimed to investigate the prevalence of BRCA1/2 germline variants in Pakistani pancreatic cancer patients. Methods: One hundred and fifty unselected and prospectively enrolled pancreatic cancer patients were comprehensively screened for BRCA1/2 germline variants using denaturing high-performance liquid chromatography and high-resolution melting analyses, followed by DNA sequencing of the variant fragments. The novel variants were analyzed for their pathogenic effect using in-silico tools. Potentially functional variants were further screened in 200 cancer-free controls. Results: Protein truncating variant was detected in BRCA2 only, with a prevalence of 0.7% (1/150). A frameshift BRCA2 variant (p.Asp946Ilefs*14) was identified in a 71-year-old male patient of Pathan ethnicity, with a family history of abdominal cancer. Additionally, we found a novel variant in BRCA2 (p.Glu2650Gln), two previously reported variants in BRCA1 (p.Thr293Ser) and BRCA2 (p.Ile2296Leu) and a recurrent nonsense variant in BRCA2 (p.Lys3326Ter). These variants were classified as variants of uncertain significance (VUS). It is noteworthy that none of these VUS carriers had a family history of pancreatic or other cancers. Conclusions: In this first study, BRCA1/2 pathogenic variant is identified with a low frequency in pancreatic cancer patients from Pakistan. Comprehensive multigene panel testing is recommended in the Pakistani pancreatic cancer patients to enhance genetic understanding in this population. [ABSTRACT FROM AUTHOR]

Background: Incision for surgical procedures has been given by scalpel blades since long, but in recent modern era electrocautery is also favored by many surgeons. The aim of this study was to compare electrocautry versus scalpel incisions in elective midline laparotomies in terms of per operative incision timings, post-operative pain, blood loss and wound infection in population of Peshawar Pakistan. Materials & Methods: This was Quasi experimental study conducted in Department of General Surgery MTI Lady Reading Hospital Peshawar, KP from Jan 2021 to Oct 2021. Total 100 patients of elective laparotomy were included. Inclusion criteria were all male/female adults' patients without Diabetes and bleeding disorders. Patients were randomly assigned in two groups by lottery method. Group A (50 patients) underwent incision with scalpel while in group B (50 patients) incision was given by electrocautery at cutting mode. Data was analyzed by SPSS ver.23.0. Results: The mean age of patients in group A and B was 44.10 ± 13.14 and 48.06 ± 11.66 years respectively. Mean incision time in Group A was 3.87 ± 1.06 seconds while in group B it was 3.65 ± 1.40 seconds. Mean pain (VAS) in group A at 24 hours was 2.22 ± 0.54 and 1.62 ± 0.60 in group B (p value 0.000). Mean blood loss in group A was 2.94 ± 1.53 ml while in group B it was 1.66 ± 1.23ml (P value 0.001). Fifteen patients (30%) of group A and 6 patients (12%) of group B developed post-operative surgical site infection which was statistically significant (p value 0.02). Conclusion: We recommend use of electrocautery as a safe alternative to scalpel for skin incision. Incision with electrocautery has a significant advantage over scalpel as it causes little blood loss, significantly low postoperative pain and decreased chances of wound infections. [ABSTRACT FROM AUTHOR]

Partner and localizer of BRCA2 (PALB2) is a pancreatic cancer (PC) susceptibility gene reported in Caucasians. However, limited data are available among Asians. We investigated the contribution of PALB2 germline variants to Pakistani PC patients. 150 unselected and prospectively enrolled PC patients were comprehensively screened for PALB2 variants, using denaturing high-performance liquid chromatography and DNA sequencing. Novel variants were investigated for their pathogenic effect using in-silico tools. Potentially functional variants were screened in 200 controls. Twenty-two different PALB2 variants were identified. A missense variant (p.Arg37His) was identified in a 48-years-old male patient with a family history of breast cancer. Another missense variant (p.Trp898Arg) was identified in a 48-years-old male patient with a family history of esophageal cancer. A novel 3′ downstream variant (c.∗480A>G) was detected in a 34-years-old female patient with family history of lung cancer. Another novel 3′ downstream variant (c.∗417A>C) was identified in a 41-years-old male patient. All these variants were absent in 200 controls. p.Arg37His and p.Trp898Arg were predicted as likely pathogenic. c.∗417A>C and c.∗480A>G were classified as variants of uncertain significance. This is the first study that suggests a minimal contribution of PALB2 variants to PC risk in Pakistani population. [ABSTRACT FROM AUTHOR]

Canola (Brassica napus L.) is one of the economically important crops of Pakistan and mustard aphid, Lipaphis erysimi Kalt. (Hemiptera: Aphididae), is a serious threat to this crop. This experiment was conducted with an aim to screen out selected canola cultivars for their tolerance against L. erysimi infestation under glasshouse conditions. Experiment was carried out using completely randomized design with ten replications for each treatment during growing seasons of 2018 and 2019. Data were documented based on the tolerance indices (TI) and proportional plant dry weight change (DWT) to identify tolerance of canola crop. Results revealed that commercial cultivar 'Zahoor' comparatively performed well despite higher number of aphids found on itas compared its other counterparts "Abaseen, Omega and KS-75" and hence, was identified as tolerant to mustard aphid. This cultivar also exhibited strong vigor against mustard aphid and minimal symptoms of damages were observed. The yield losses based on DWT and TI in susceptible cultivar "Abaseen" was 40.79%, whereas it was 23.56% in Zahoor which confirmed the reduced percent yield losses in the later genotype. This study identified "Zahoor" as the most tolerant cultivar to mustard aphid followed by KS-75 and Omega hence, other susceptible cultivars should be replaced by Zahoor to attain higher and sustainable yield production in canola. [ABSTRACT FROM AUTHOR]

Background: The RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan. Methods: Comprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines. Results: One novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old familial breast cancer patient. The pathogenic variant frequencies were 0.3% (1/302) in early-onset and familial breast cancer patients and 0.8% (1/133) in familial patients. Further, three novel variants of unknown significance, p.I141F, p.S182S, and p.C475C, were identified in familial breast cancer patients at the age of 47, 68, and 47 respectively. All variants were absent in 250 controls. Conclusions: Our data suggest that the RECQL gene plays a negligible role in breast cancer predisposition in Pakistan. [ABSTRACT FROM AUTHOR]

Objective: The aim of our study was to determine the most common cause of liver cirrhosis in district Buner. Material and Method: This was retrospective data review of patients record. Data was collected from patient's record register from January 2016 till December 2018. A total of 203 patients were included in this study. Data was collected and entered and analyzed in IBM SPSS 23. Results: Out of 203 cases, 135(66.5%) were males and 68 (33.5%) were females. The main cause of cirrhosis was HCV (n=163, 80.3%) and HBV (n=27, 13.3%). Cryptogenic cirrhosis occurred in 9 cases (4.4%) while others were only 1% (n=2). HCV positivity was more in males (n=108, 66.25%) than in females (n=55, 33.7%) with a p value .022. Conclusion: HCV is major cause of Liver Cirrhosis in our patients. HCV is more common in males than in females. Cirrhosis occurs most commonly in 4th, 5th and 6th decades of life after being infected with HBV and HCV. [ABSTRACT FROM AUTHOR]

Abstract: 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 consanguineous Pakistani family harboring primary hypertrophic osteoarthropathy in autosomal‐recessive pattern was ascertained. Whole genome single nucleotide polymorphisms (SNPs) genotyping and sequence analysis revealed a novel homozygous missense mutation (c.577T˃C) of the human HPGD gene in all affected members of the family. The study presented here demonstrate the first case of primary hypertrophic osteoarthropathy reported in Pashtun population. [ABSTRACT FROM AUTHOR]

Background: Women harboring BRCA1/2 germline mutations have high lifetime risk of developing breast/ovarian cancer. The recommendation to pursue BRCA1/2 testing is based on patient's family history of breast/ovarian cancer, age of disease-onset and/or pathologic parameters of breast tumors. Here, we investigated if diagnosis of triple-negative breast cancer (TNBC) independently increases risk of carrying a BRCA1/2 mutation in Pakistan.Methods: Five hundred and twenty-three breast cancer patients including 237 diagnosed ≤ 30 years of age and 286 with a family history of breast/ovarian cancer were screened for BRCA1/2 small-range mutations and large genomic rearrangements. Immunohistochemical analyses were performed at one center. Univariate and multiple logistic regression models were used to investigate possible differences in prevalence of BRCA1/2 mutations according to patient and tumor characteristics.Results: Thirty-seven percent of patients presented with TNBC. The prevalence of BRCA1 mutations was higher in patients with TNBC than non-TNBC (37 % vs. 10 %, P < 0.0001). 1 % of TNBC patients were observed to have BRCA2 mutations. Subgroup analyses revealed a larger proportion of BRCA1 mutations in TNBC than non-TNBC among patients 1) diagnosed at early-age with no family history of breast/ovarian cancer (14 % vs. 5 %, P = 0.03), 2) diagnosed at early-age irrespective of family history (28 % vs. 11 %, P = 0.0003), 3) had a family history of breast cancer (49 % vs. 12 %, P < 0.0001), and 4) those with family history of breast and ovarian cancer (81 % vs. 28 %, P = 0.0005). TNBC patients harboring BRCA1 mutations were diagnosed at a later age than non-carriers (median age at diagnosis: 30 years (range 22-53) vs. 28 years (range 18-67), P = 0.002). The association between TNBC status and presence of BRCA1 mutations was independent of the simultaneous consideration of family phenotype, tumor histology and grade in a multiple logistic regression model (Ratio of the probability of carrying BRCA1/2 mutations for TNBC vs. non-TNBC 4.23; 95 % CI 2.50-7.14; P < 0.0001).Conclusion: Genetic BRCA1 testing should be considered for Pakistani women diagnosed with TNBC. [ABSTRACT FROM AUTHOR]

Current study was designed during 2019-2020 at Agricultural Research Farm, Agronomy (Fodder Production) Section, Ayub Agricultural Research Institute, Faisalabad, Pakistan with main objective to evaluate the varying supplementary dietary levels of Moringa oleifera fresh leaves for optimum production in Nili-Ravi buffaloes. A trial of 9 buffaloes was selected having 3-4 parity and were divided into 3 groups: A, B and C. Buffaloes in group A, B and C were supplementary fed 2 kg, 3 kg and 4 kg Moringa oleifera fresh leaves per day for one week each. The influence of Moringa oleifera fresh leaves was studies on following parameters: animal weight gain, milk yield and milk composition. The collected data were analyzed statistically. The result of this study indicated that optimum weight gain was found in the animals supplementarily fed 4 kg Moringa oleifera fresh leaves per day and average body weight of animals increased from 669, 503 and 644 kg to 678, 507 and 651 kg in group A, B and C, respectively. Similarly animals fed 4 kg Moringa oleifera fresh leaves per day yielded optimum milk production as compared to other groups of animals wherein average milk yield was increased from 5.05, 6.50 and 5.45 liters to 5.6, 6.7 and 5.9 liters in group A, B and C, respectively. Total solids in the milk were also increased in the treatment where 4 kg Moringa oleifera fresh leaves were fed to animals per day where fat % increased from 6.5, 6.9 and 6.8 to 6.8, 7.0 and 6.9, Crude protein % from 4.72, 4.5 and 4.51 to 4.81, 4.64 and 4.6 % and calcium % increased from 0.112, 0.117 and 0.101 to 0.13, 0.129 and 0.116 in group A, B and C, respectively. It was concluded that in addition to all other feeding requirements, 4 kg dietary Moringa oleifera fresh leaves might affect the body weight and production performance of Nili-Ravi buffaloes positively without any ill effects on milk aroma and appearance. [ABSTRACT FROM AUTHOR]

Syphilis, caused by Treponema pallidum, is resurging globally. Molecular typing allows for the investigation of its epidemiology. In Pakistan and other nations, T. pallidum subsp. pallidum has developed widespread macrolide resistance in the past decade. A study at the Peshawar Regional Blood Centre from June 2020–June 2021 analyzed serum samples from 32,812 blood donors in Khyber Pakhtunkhwa, Pakistan, to assess circulating T. pallidum strains and antibiotic resistance. Blood samples were initially screened for T. pallidum antibodies using a chemiluminescent microparticle immunoassay (CMIA). CMIA-reactive samples underwent polymerase chain reaction (PCR) targeted the polA, tpp47, bmp, and tp0319 genes. PCR-positive samples were further analyzed for molecular subtyping using a CDC-developed procedure and tp0548 gene examination. All PCR-positive samples were analyzed for the presence of point mutations A2058G and A2059G in 23S rRNA, as well as the G1058C mutation in 16S rRNA. These mutations are known to impart antimicrobial resistance to macrolides and doxycycline, respectively. Out of 32,812 serum samples, 272 (0.83%) were CMIA-reactive, with 46 being PCR-positive. Nine T. pallidum subtypes were identified, predominantly 14d/f. The A2058G mutation in 23S rRNA was found in 78% of cases, while G1058C in 16S rRNA and A2059G in 23S rRNA were absent. The research found donor blood useful for assessing T. pallidum molecular subtypes and antibiotic resistance, especially when chancres are not present. The prevalent subtype was 14d/f (51.85%), and the high macrolide resistance of 36 (78%) indicates caution in using macrolides for syphilis treatment in Khyber Pakhtunkhwa, Pakistan. [ABSTRACT FROM AUTHOR]

Background: Pathogenic germline mutations in BRCA1 and BRCA2 (BRCA1/2) account for the majority of hereditary breast and/or ovarian cancers worldwide. To refine the spectrum of BRCA1/2 mutations and to accurately estimate the prevalence of mutation in the Pakistani population, we studied 539 breast cancer patients selected for family history and age of diagnosis. Methods: Comprehensive screening for BRCA1/2 germline mutations was performed using state-of-the-art technologies. Results: A total of 133 deleterious mutations were identified in 539 families (24.7%), comprising 110 in BRCA1 and 23 in BRCA2. The prevalence of BRCA1/2 small-range mutations and large genomic rearrangements was 55.4% (36/65) for families with breast and ovarian cancer, 27.4% (67/244) for families with two or more cases of breast cancer, 18.5% (5/27) for families with male breast cancer, and 12.3% (25/203) for families with a single case of early-onset breast cancer. Nine mutations were specific to the Pakistani population. Eighteen mutations in BRCA1 and three in BRCA2 were recurrent and accounted for 68.2% (75/110) and 34.8% (8/23) of all identified mutations in BRCA1 and BRCA2, respectively. Most of these mutations were exclusive to a specific ethnic group and may result from founder effects. Conclusions: Our findings show that BRCA1/2 mutations account for one in four cases of hereditary breast/ovarian cancer, one in five cases of male breast cancer, and one in eight cases of early-onset breast cancer in Pakistan. Our study suggests genetic testing of an extended panel of 21 recurrent BRCA1/2 mutations for appropriately selected patients and their families in Pakistan. [ABSTRACT FROM AUTHOR]

Purpose: The main purpose of this study is to examine the catalytic impact of perceptions of politics in organizations on the relationship between perceived unfairness and deviant behavior at work. Design/methodology/approach: To test the proposed research model, the authors collected field data in a public sector university located in Islamabad Capital Territory, Pakistan. A two-wave questionnaire was distributed to 400 employees. In the first wave, the questionnaire was used to collect data on participants' perceptions of perceived injustice and organizational politics. After two weeks, the second wave of data collection was conducted by sending another questionnaire to the same respondents to collect data on their organizational and interpersonal deviance. Findings: Empirical findings revealed that perceived interactional injustice results in interpersonal deviance, and perceived distributive and procedural injustice results in organizational deviance. Moreover, the direct relationship between perceived injustice and deviant behaviors was stronger when the perception of politics factor was high. Originality/value: To the best of the authors' knowledge, this study is one of the first to test the detrimental effect of perception of politics on deviance in a public organization in Pakistan. [ABSTRACT FROM AUTHOR]

Purpose Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of PALB2 mutations in early-onset and familial breast/ovarian cancer patients from Pakistan. Materials and Methods PALB2 mutation screening was performed in 370 Pakistani patients with early-onset and familial breast/ovarian cancer, who were negative for BRCA1, BRCA2, TP53, CHEK2, and RAD51C mutations, using denaturing high-performance liquid chromatography analysis. Mutations were confirmed by DNA sequencing. Novel PALB2 alterations were analyzed for their potential effect on protein function or splicing using various in silico prediction tools. Three-hundred and seventy-two healthy controls were screened for the presence of the identified (potentially) functional mutations. Results A novel nonsense mutation, p.Y743*, was identified in one familial breast cancer patient (1/127, 0.8%). Besides, four in silico-predicted potentially functional mutations including three missense mutations and one 5' untranslated region mutation were identified: p.D498Y, novel p.G644R, novel p.E744K, and novel c.-134_-133delTCinsGGGT. The mutations p.Y743* and p.D498Y were identified in two familial patients diagnosed with unilateral or synchronous bilateral breast cancer at the ages of 29 and 39, respectively. The other mutations were identified in an early-onset (≤ 30 years of age) breast cancer patient each. All five mutations were absent in 372 healthy controls suggesting that they are disease associated. Conclusion Our findings show that PALB2 mutations account for a small proportion of early-onset and hereditary breast/ovarian cancer cases in Pakistan. [ABSTRACT FROM AUTHOR]

Autosomal primary microcephaly (MCPH) is a heterogenetic disorder that affects brain's cerebral cortex size and leads to a reduction in the cranial vault. Along with the hallmark feature of reduced head circumference, microcephalic patients also exhibit a variable degree of intellectual disability as well. Genetic studies have reported 28 MCPH genes, most of which produce microtubule‐associated proteins and are involved in cell division. Herein this study, 14 patients from seven Pashtun origin Pakistani families of primary microcephaly were analyzed. Mutation analysis was performed through targeted Sanger DNA sequencing on the basis of phenotype‐linked genetic makeup. Genetic analysis in one family found a novel pathogenic DNA change in the abnormal spindle microtubule assembly (ASPM) gene (NM_018136.4:c.3871dupGA), while the rest of the families revealed recurrent nonsense mutation c.3978G>A (p.Trp1326*) in the same gene. The novel reported frameshift insertion presumably truncates the protein p.(Lys1291Glyfs*14) and deletes the N‐terminus domains. Identification of novel ASPM‐truncating mutation expands the mutational spectrum of the ASPM gene, while mapping of recurrent mutation c.3978G>A (p.Trp1326*) will aid in establishing its founder effect in the Khyber Pakhtunkhwa (KPK) inhabitant population of Pakistan and should be suggestively screened for premarital counseling of MCPH susceptible families. Most of the recruited families are related to first‐degree consanguinity. Hence, all the family elders were counseled to avoid intrafamilial marriages. [ABSTRACT FROM AUTHOR]

Objectives: To determine the frequency of recurrence of Superficial Transitional Cell Carcinoma on first check cystoscopy after TURBT in six months at the Institute of Kidney Diseases Peshawar. Methodology: All adult male and female patients with superficial transitional cell carcinoma of urinary bladder were evaluated and resection of the tumour was done and tissue sent for histopathology. Three months after resection, the patients were followed up by cystoscopy and findings noted. Recurrent growth, if present, was resected and sent for histopathology. All the above information were recorded and entered into a structured proforma. The data were analyzed through SPSS version 14 and results were presented in the form of tables and graphs. Results: Our study included 41 patients. 33 (80.5%) were males and 8 (19.5%) females. The age ranged from 28 to 85 years with a mean of 59.22±11.47 years. The presenting T-stage was pTa in 11 (26.8%) patients and pT1 in 30 (73.2%) patients. The presenting histological grade was G-I in 16 (39%), G-II in 10 (24.4%) and G-III in 15 (36.6%) patients. On first check cystoscopy, 28 (68.3%) patients showed recurrence while the rest, i.e. 13 (31.7%), showed disease free status. Out of 28 cases with recurrence, 2 (4.9%) showed pTa and 26 (63.4%) showed pT1. The recurrence of histological G-I, G-II and G-III were 5, 8 and 15 respectively. Conclusion: Recurrence of superficial TCC at first check cystoscopy is high and has a predictive value for future recurrence of the disease. [ABSTRACT FROM AUTHOR]

With the increasing demand and depletion of high-grade ore deposit, attention is being diverted to recover the need from previously ignored, low grade ore deposits. The low grade ores are being processed by the different advance techniques of mineral processing. In this research Black Shale of Chimiari region of Khyber Pakhtunkhwa, Pakistan was processed by floatation technique with three different reagents i.e. collectors (Sodium Amyl Xanthate and Sodium Ethyl Xanthate, triton-x-100), frothers (methyl isobutyl carbinol (MIBC) and Pine oil) and depressant (sodium silicate) with varying dosage rates as well as particle size. Three different anionic collectors, one from oxyhydryl group (triton-x-100) and others from sulphydryl group (xanthates) have been tested. Results shows that Triton-X-100 gives highest recoveries among three collectors however, grades were not improved. Sodium ethyl xanthate gives more improved results for Cu, Zn, Ti and V etc. than sodium amyl xanthate. Keeping in view the grade-recovery aspect of Total carbon content (TCC), it was observed that a dosage rate of 200 g/t of sodium amyl xanthate give better results than triton-x-100 and sodium ethyl xanthate. Two frothers from neutral category, Methyl iso-butyl carbinol (MIBC) and Pine oil were also tested and it was found that the performance MIBC was impressive than Pine oil at same dosage rates. Sodium Silicate was used as depressant for the gangue minerals (clay and silica) and results reveals that at dosage rate of 1.5 kg/t, clay minerals were depressed more than silicate. Similarly, tests were performed with heads of four particle sizes ranges of -53, -106+53, -150+106 and -212+150 microns respectively. Particle size analysis reveals that fine grinding improves recovery of TCC from 45% to 68%, while grads decreased. It was also found that fine grinding also improves recovery of heavy metals. The analysis of floated fractions with XRF and ICP-OES, also confirm the up-gradation of many base and heavy earth metals. [ABSTRACT FROM AUTHOR]

Background: Pathogenic germline variants in MLH1, MSH2 and MSH6 genes account for the majority of Lynch syndrome (LS). In this first report from Pakistan, we investigated the prevalence of pathogenic MLH1/MSH2/MSH6 variants in colorectal cancer (CRC) patients. Methods: Consecutive cases (n = 212) were recruited at the Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH&RC), between November 2007 to March 2011. Patients with a family history of > 3 or 2 HNPCC-associated cancers were classified as HNPCC (n = 9) or suspected-HNPCC (n = 20), respectively (group 1; n = 29). Cases with no family history were designated as non-HNPCC (group 2; n = 183). MLH1/MSH2/MSH6 genes were comprehensively screened in group 1. Pathogenic/likely pathogenic variants identified in group 1 were subsequently evaluated in group 2. Results: Eight distinct pathogenic/likely pathogenic MLH1/MSH2 variants were found in group 1 (10/29; 34.5%), belonging to HNPCC (5/9; 55.6%) and suspected-HNPCC (5/20; 25%) families and in group 2 (2/183; 1.1%) belonging to non-HNPCC. Overall, three recurrent variants (MSH2 c.943-1G > C, MLH1 c.1358dup and c.2041G > A) accounted for 58.3% (7/12) of all families harboring pathogenic/likely pathogenic MLH1/MSH2 variants. Pathogenic MSH6 variants were not detected. Conclusion: Pathogenic/likely pathogenic MLH1/MSH2 variants account for a substantial proportion of CRC patients with HNPCC/suspected-HNPCC in Pakistan. Our findings suggest that HNPCC/suspected-HNPCC families should be tested for these recurrent variants prior to comprehensive gene screening in this population. [ABSTRACT FROM AUTHOR]

This paper presents findings of research conducted on the improvement of radiation shielding in concrete, using barite as fine aggregate. Barite is a heavy mineral, having specific gravity in range of 3.5 to 4.5, and is abundantly available in different parts of Pakistan. Radiation shielding of barite concrete was studied experimentally for use in optimization of the thickness of radiation therapy bunkers. The Influence of barite on mechanical properties of concrete was also studied for a range of water-to-cement ratios from 0.30 to 0.45. ASTM standards were used to compute compressive and tensile strengths of concrete, whereas thermogravimetric analysis was carried out to determine percentage weight loss at elevated temperature. Radiation shielding potential of concrete was studied by subjecting concrete sections to gamma-ray source (Cobalt-60). Experimental results showed that the use of barite mineral as fine aggregate increases shielding ability of concrete. Linear attenuation coefficient was found to increase by 28.4% and varied proportionally with the variation in density of concrete. However, a slight decrease in compressive and tensile strengths was noted with the addition of barite as fine aggregate concrete. Due to high absorption capacity of barite, the problem of workability was overcome through the use of admixtures within allowable limit of ASTM (i.e., less than 3%). Finally, an optimum water-to-cement ratio of 0.45 for barite mineral infused concrete is recommended for the least reduction in mechanical properties and with significantly improved level of radiation shielding. [ABSTRACT FROM AUTHOR]

The development and advancement of next generation sequencing have not only sped up the process of identifying rare variants, but have also enabled scientists to explore all variants in a single individual. The Pakistani population has a high ratio of first degree consanguinity, which is why it is a rich source for various kinds of genetic disorders. Due to the heterogeneous composition of Pakistani population, the likelihood of genetic heterogeneity for each disorder is high. Therefore, the compilation and organization of such vast genetic data is necessary to facilitate access for analysis and interpretation to researchers and medical geneticists. The increased research on Pakistani ethnic families for disease gene identification has revealed many mutations, which has led us to develop a Pakistani mutome database entitled “Pakistan Genetic Mutation Database (PGMD)”. In PGMD, the medico-genetic information about diseases are mainly compiled into Syndromic and Non-syndromic disorders. It is a public database, which can be freely accessed from http://www.pakmutation.com . At present, we have registered more than 1000 mutations, reported in about 130 different kinds of genetic disorders. Practically, PGMD will assist researchers, clinicians, and geneticists in genetic counseling and screening of population-specific mutations, which will also aid in personalized healthcare. [ABSTRACT FROM AUTHOR]

Purpose: To determine TEM-116 beta-lactamase gene prevalence in drug-resistant Pseudomonas aeruginosa isolates from Pakistan. Methods: Sequence analysis of TEM beta-lactamase isolates and their antibiotic susceptibility patterns were carried out. Quantitative bacteriostatic concentrations for commonly used antibiotics were measured against TEM-116 beta-lactamase isolates. Results: Among the 102 isolates of P. aeruginosa, 23 (22.5 %) were TEM beta-lactamase producers. Sequence analysis of TEM gene from selected isolates showed homology with TEM-116. Two mutations at positions 84 (p.Val84Ile) and 184 (p.Ala184Val) were documented. The TEM-116 isolates exhibited 100 % resistance to sulphamethoxazole/trimethoprim, amoxycillin/clavulanic acid and doxycycline, but showed sensitivity to levofloxacin, norfloxacin and amikacin. One TEM-116 P. aeruginosa (PA11) isolate was resistant to all available antibiotics. Conclusion: These results reveal increased antibiotic resistance in the TEM-116 P. aeruginosa isolates studied, a phenomenon which will be helpful in understanding the molecular mechanisms of antibiotic resistance in P. aeruginosa. [ABSTRACT FROM AUTHOR]

Pseudomonas aeruginosa is an important pathogen of both community and hospital acquired infections, and a major threat to public health for continuous emergence of multi-drug resistance. Current prevalence and pattern of multidrug resistance in the clinical isolates of P . aeruginosa is reported here. Samples were collected from September 2013 to January 2014 tertiary care hospital, Peshawar. Samples were subjected to phenotypic and molecular based detection of P . aeruginosa and were further processed for multidrug resistance pattern. Out of 3700 samples, 102 were identified as MDR P . aeruginosa . Prevalence of MDR isolates were found in pus (34.3%), wounds (28.4%), urine (19.6%), blood (14.7%) and sputum (2.9%) respectively. Isolates were more resistant to Sulphamethoxazole/Trimethoprim (98.04%), Amoxycillin/Clavulanic acid, Doxycycline and Chloramphenicol (95.1%) each, while least resistant to Imipenem (43.1%), Cefoperazone/Sulbactam (50.98%) and Amikacin (53.9%). Extensive MDR pattern was observed in P . aeruginosa was found as (n = 17, 16.6%) isolates were resistant to all four classes of antibiotics. Increased burden of MDR P . aeruginosa was documented in the study. Moreover, some isolates were even resistant to four classes of antibiotics. Findings of the study will be helpful to devise an appropriate antibiotic treatment strategy against MDR P . aeruginosa to cope the chances of evolving resistant pathogens. [ABSTRACT FROM AUTHOR]

Punjab-2008 is a bold seeded, wilt resistant and high yielding variety of chickpea (Cicer arietinum L.). It was developed from a cross between two genotypes (90065 × ICC 12231). The hybridization work was started at Pulses Research Institute, AARI, Faisalabad, Pakistan during the year 1993-94 using pedigree method of selection. The segregating population was evaluated for desirable traits and advanced to F5 generation. The pure line was selected from F5 generation during 1997-98 and tested in yield nursery during 1998-99. It was tested for two consecutive years in station yield trials from 1999-00 to 2000-01 before moving forward to micro yield trials in 2001-02 to 2002-03. It was then tested simultaneously in adaptation yield trials and national uniform yield trials during 2003-07. The variety produced 10-45 percent more seed yield in different yield trials over respective checks with a yield potential of 4516 kg per hectare. It stood first in 2005-06 and 2006-07 in national uniform yield trials. Its plant is semi-erect with 65-70 cm plant height. Number of primary branches varies from 4-5 whereas secondary branches range from 7-10 depending upon abiotic and biotic factors. It takes 100-105 days to 50 percent flowering after sowing while flowering duration is 40-45 days. Number of pods varies from 60-70 with 2-3 seeds per pod while pod shattering is absent. Its seed is bold in size having higher 1000-seed weight (300 g). It performs better at seed rate of 60 kg per hectare with 15 cm plant spacing and 24-60-0 kg NPK per hectare. Tolerance against wilt, bold seededness, high yield potential and suitability for both irrigated and rainfed conditions are major attributes of new chickpea variety Punjab-2008. [ABSTRACT FROM AUTHOR]

The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served as a unique resource for studying rare and novel forms of recessive HL. A combined exome sequencing, bioinformatics analysis, and gene mapping approach for 21 consanguineous Pakistani families revealed 13 pathogenic or likely pathogenic variants in the genes GJB2, MYO7A, FGF3, CDC14A, SLITRK6, CDH23, and MYO15A, with an overall resolve rate of 61.9%. GJB2 and MYO7A were the most frequently involved genes in this cohort. All the identified variants were either homozygous or compound heterozygous, with two of them not previously described in the literature (15.4%). Overall, seven missense variants (53.8%), three nonsense variants (23.1%), two frameshift variants (15.4%), and one splice-site variant (7.7%) were observed. Syndromic HL was identified in five (23.8%) of the 21 families studied. This study reflects the extreme genetic heterogeneity observed in HL and expands the spectrum of variants in deafness-associated genes. [ABSTRACT FROM AUTHOR]

Background: Pakistan ranks sixth in terms of tuberculosis burden. The frequency of tuberculosis in diabetics is reported to be four times higher than in non-diabetics. The aim of this study was to determine the frequency of pulmonary tuberculosis in admitted patients of diabetes mellitus. Material & Methods: Patients of diabetes mellitus admitted to Medical Unit A, Hayatabad Medical Complex, Peshawar, from 1st August 2010 to 31st July 2011, were studied. Routine investigations including blood complete, erythrocyte sedimentation rate, fasting and random blood glucose, were carried out in all patients. Three early morning sputum smears for acid fast bacilli and x-ray chest and bronchoalveolar lavage were the main tools for diagnosis of pulmonary tuberculosis. Results: A total of 100 patients with diabetes mellitus were admitted during the study period. Out of them, 54 patients were males, and 46 females. Fourteen (14%) of these patients were diagnosed as having pulmonary tuberculosis. Fever was the commonest presenting symptom of tuberculosis and was present in 75%, followed by cough in 56%, and hemoptysis in 17% patients. Cavitating lesions were seen on chest x-ray in (35.7%) and pleural effusion in (28.5%) of these patients. Conclusion: Pulmonary tuberculosis is common in patients with diabetes mellitus. Fever and cough are the common presenting symptoms. [ABSTRACT FROM AUTHOR]

The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the literature. The characteristic features of hypohidrotic ectodermal dysplasia (HED) comprise of hypodontia/oligodontia, along with hypohidrosis/anhidrosis, and hypotrichosis. Pathogenic variants in EDA, EDAR, EDARADD, and TRAF6, cause the phenotypic expression of HED. Genetic alterations in EDA and WNT10A cause particularly non-syndromic/isolated oligodontia. In the current project, we recruited 57 patients of 17 genetic pedigrees (A-Q) from different geographic regions of the world, including Pakistan, Egypt, Saudi Arabia, and Syria. The molecular investigation of different syndromic and non-syndromic dental conditions, including hypodontia, oligodontia, generalized odontodysplasia, and dental crowding was carried out by using exome and Sanger sequencing. We have identified a novel missense variant (c.311G>A; p.Arg104His) in WNT10A in three oligodontia patients of family A, two novel sequence variants (c.207delinsTT, p.Gly70Trpfs*25 and c.1300T>G; p.Try434Gly) in EDAR in three patients of family B and four patients of family C, respectively. To better understand the structural and functional consequences of missense variants in WNT10A and EDAR on the stability of the proteins, we have performed extensive molecular dynamic (MD) simulations. We have also identified three previously reported pathogenic variants (c.1076T>C; p.Met359Thr), (c.1133C>T; p.Thr378Met) and (c.594_595insC; Gly201Argfs*39) in EDA in family D (four patients), E (two patients) and F (one patient), correspondingly. Presently, our data explain the genetic cause of 18 syndromic and non-syndromic tooth agenesis patients in six autosomal recessive and X-linked pedigrees (A-F), which expand the mutational spectrum of these unique clinical manifestations. [ABSTRACT FROM AUTHOR]

Background: Different species of animals are being utilized in traditional therapies by various cultures for a long time and such uses still exist in folk medicine. The present study aimed to document animal-based traditional therapies used by the local communities of Jhelum and Lahore districts of the Punjab province, Pakistan. Methods: Field surveys were conducted in 2015–2016 in six different sites of the study areas. Data were collected through semi-structured interviews and face to face conversation with local informants. Results: The ethnomedicinal uses of 57 species of animals including mammals, birds, fish, reptiles, amphibian, and invertebrates (30, 25, 25, 7, 3.5, and 3.5%, respectively) were documented. Meat, oil, brain, fats, milk, eggs, and skin were the most utilized body parts. Ovis orientalis punjabiensis, Francolinus francolinus, Sperata sarwari, Channa punctata, Oreochromis niloticus, Ctenopharyngodon idella, Cyprinus carpio, Labeo rohita, and Carassius auratus were reported for the first time to treat human diseases, i.e., allergy, epilepsy, fever, joint pain, and backache, to act as aphrodisiac, and to enhance memory. Streptopelia decaocto and S. tranquebarica were the most frequently utilized species with highest frequency of citation (32 for each). Columba livia depicted highest fidelity level and used value of 92.86% and 0.89, respectively. Conclusions: Being agro-pastoralists, the inhabitants of Jhelum possess more traditional knowledge compared to Lahore. The present study could be important for conservation and sustainable use of animal biodiversity in this region. Additionally, detailed study on chemical profiling and bioactivities may lead to animal-based novel drug discovery. [ABSTRACT FROM AUTHOR]