BackgroundHomozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD).MethodsWe genetically screened 13 families from a cohort of 81 Pakistani IRD families diagnosed with Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), congenital stationary night blindness (CSNB), or cone dystrophy (CD). We employed genome-wide single nucleotide polymorphism (SNP) array analysis to identify homozygous regions shared by affected individuals and performed Sanger sequencing of IRD-associated genes located in the sizeable homozygous regions. In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS) of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families.ResultsHomozygosity mapping and Sanger sequencing of IRD-associated genes revealed the underlying mutations in 10 families. TSS revealed causative variants in three families. In these 13 families four novel mutations were identified in CNGA1, CNGB1, GUCY2D, and RPGRIP1.ConclusionsHomozygosity mapping and TSS revealed the underlying genetic cause in 13 IRD families, which is useful for genetic counseling as well as therapeutic interventions that are likely to become available in the near future.
Food security due to scarcity of water to field crops is major concern now a days due to stress environments. A growth room trial was performed to screen potential bacterial inoculants for improving growth and physiology of maize (Zea mays L.) under water scarcity. Thirty fast growing rhizobacteria were isolated from rhizosphere of maize, cultivated in arid and semiarid areas of the province (Punjab). Isolates were evaluated for their plant growth promoting characters and drought tolerance, at various moisture levels developed in-vitro by using 0, 5, 10, 15, 20 and 25% polyethylene glycol (PEG-6000). Nine most efficient isolates (LK-2, LK-7, LK-9, LK-13, LK-16, LK-18, LK-21, LK-24, LK-29) were selected, having potential ability to survive in water stressed condition and were tested further in a jar experiment for their role in morphophysiological improvements in maize seedlings, grown at different drought levels (100, 70 and 40% field capacity (FC). Results depicted that inoculation significantly (P≤0.05) enhanced root/shoot biomass & root/shoot ratio, chlorophyll a and b, starch content, soluble sugars, relative water content, photosynthetic rate, water use efficiency and stomatal conductance. Overall, isolate LK-13 and LK-16 were found more prominent in inducing drought tolerance in seedlings as compared to other isolates and uninoculated control. Identification of isolates through 16sRNA sequencing confirmed the both strains (LK-13 and LK-16) belong to Bacillus spp. Inoculation of maize seeds with rhizobacteria as plant growth promoting rhizobacteria enhanced growth and physiology of maize. So, inoculation of PGPR could be a potential approach for enhancing drought resilience in maize (Zea mays L.).
The purposes of this study are to analyze which leadership behavior is most closely related with organizational performances based on both leader’s and employee’s perceived; and to what extent leadership behaviors have impact on organizational performances in public and private organizations. Two questionnaires were developed to capture leaders’ behaviors and employees’ responses. Sample comprises of five hundred managers and five hundred employees of different private and public sector organizations of Pakistan. Correlation analysis and regression analysis are used to analyze relationship and effects of leadership behaviors with and on organizational performances. Results indicate that: firstly, all leadership behaviors are positively interrelated with leader is perceived and employee has perceived organizational performances. Secondly, only monitoring leadership behavior has significant positive impact on leader’s and employee’s perceived organizational performance based on individual analysis; whereas, innovative role modeling, support for innovation, recognition and monitoring leadership behaviors have significant positive impact on leader’s perceived and employee’s perceived organizational performances based on pooled analysis.
Total Quality Management is a standard of a continuous improvement of the process for maintaining the high standard of organization. The purpose of this research paper is to analysis the effect of TQM practices on the performance measurement of business organizations. A proposed research model and the hypothesis are tested by the cross sectional survey data collected from different organization in Bahrain. The dependent variable is the performance measurement of management leadership and the independent variables are employees training, employee's relation, supplier quality management, product design, quality data and reporting. The study shows that there is positive correlation of dependent variables with independent variables. -Industrial management, Business Management I.
Background: Masters in health professions education (MHPE) programs in Pakistan has created many challenges for its curricular components. It is necessary to explore these components in the local context, so as to agree to what constitutes minimally agreed MHPE standards. Objectives: To identify the similarities and variations in assessment of MHPE Programs of Pakistan. Methodology: Collective case study design was used to collect data from 07 programs directors about assessment methodology/policy used in their programs through semi structured interviews. After transcription of interviews and open coding, axial codes were transferred to Microsoft excel sheet for themes identification through content, thematic and discourse analysis simultaneously using NVIVO software, word frequency and matrix coding queries. Trustworthiness of data was ensured through credibility, conformability, dependability and transferability. Conclusion Formative assessment, assignments, end of term examination and thesis defense are similarities of different programs proposed as minimum standards for existing and future programs. OSTE is proposed as variations and guidelines for accrediting agencies and EPAs, self-assessment, peer assessment and online assessments are the challenges tasks ahead to work.
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