Funding informationQuaid-i-Azam University Primary congenital glaucoma (PCG) causes blindness in early age. It has an autosomal recessive pattern of inheritance, hence is more prevalent in populations with frequent consanguineous marriages that occur in the Pakistani population. Mutations in the CYP1B1 gene are commonly associated with PCG. The aim of the present study was to identify genetic mutations in the CYP1B1 gene in PCG cases belonging to 38 Pakistani families. DNA was extracted using blood samples collected from all enrolled patients, their available unaffected family members and controls. Direct sequencing of the CYP1B1 gene revealed a novel 3' splice acceptor site causative variant segregating in an autosomal recessive manner in a large consanguineous family with four PCG-affected individuals. The novel variant was not detected in 93 ethnically matched controls.Furthermore, four already reported mutations, including p.G61E, p.R355X, p.R368H, and p. R390H were also detected in patients belonging to nine different families. All identified causative variants were evaluated by computational programs, that is, SIFT, PolyPhen-2, and Muta-tionTaster. Pathogenicity of the novel splice site variant identified in this study was analyzed by Human Splicing Finder and MaxEntScan. Ten out of 38 families with PCG had the disease due to CYP1B1 mutations, suggesting CYP1B1 was contributing to PCG in these Pakistani patients.Identification of this novel 3' splice acceptor site variant in intron 2 is the first report for the CYP1B1 gene contributing to genetic heterogeneity of disease. K E Y W O R D S autosomal recessive, CYP1B1, primary congenital glaucoma, splice site variant

In current study the prevalence of anaemia among pregnant females and its correlation with foetal mortality was studied in Punjab, Pakistan. Overall 65.4% females were anaemic. On basis of Hb level 6.4% females were severely anaemic, 19.2% were moderately and 39.8% were mild anaemic. The values of PCV in 86.6% while MCV in 46.4% and MCH in 41.8% females were less than normal values. Significant correlation was observed in Prevalence of anaemia and daily intake of three or more cups of tea. A similar significant correlation was also found between anaemia, vegetarian diet and poor diet. Age group of pregnant females was also observed significantly correlated with prevalence of anaemia and maximum anaemic females were in the age group of 35>40. Overall 17.7% foetal mortality was recorded with significantly highest among anaemic group which gradually decreased with increase in Hb among moderately and mild anaemic groups. The TLC in 13.6% pregnant females showed higher than normal. Significant differences in neutrophils, monocytes, lymphocytes and eosinophils were observed among pregnant females.

PurposeRecent literature has focused on the outcomes associated with employee performance, but how and when it leads to work-related outcomes further is an area that has not gained due attention. Against this backdrop, this study entails investigating the effects of employee performance on their taking-charge behavior through the mediation of leader–member exchange (LMX) and the leader's task-oriented behavior's moderating role.Design/methodology/approachUsing a questionnaire-based survey design, the study is based on a sample of 304 employees of pharmaceutical companies' sales departments. The two-stage lag approach has been used for data collection, where leader–follower dyads participated in the study.FindingsThe study's findings reveal that better-performing employees are considered in-group members by their leaders, and the presence of high LMX makes employees reciprocate by adopting charge behavior. Furthermore, a leader's task-oriented behavior fosters the performance – LMX and performance – taking charge relationship mediated through LMX, a moderated mediation mechanism exists.Originality/valueThe study offers a novel explanation by considering employee performance as a predictor instead of an outcome variable. Furthermore, recent literature has considered adverse outcomes of performance, while this study considers the positive aspects of employee performance (i.e. LMX and charge behavior). It also offers the role of both employee- and leader-specific factors in determining the LMX relationship.

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Background: Impingement syndrome is a disorder of unknown etiology in which the restriction of shoulder movements is the result of inflammation of shoulder joint capsule and its ligaments. Aim: To explore relationship of depression and anxiety among Patients of Adhesive Capsulitis, and correlation of despair and nervousness with shoulder pain and disability index in Adhesive Capsulitis. Methodology: A correlational study was conducted in which 280 patients of both genders from different Hospitals were taken. A Questionnaire examined the association of depression and anxiety and determine the rate of Shoulder pain and Disability index in Frozen Shoulder patients. The Shoulder pain and Disability index scale and Hospital Anxiety and Depression Scale were also included in this study. SPSS v.26 analyzed the data. Mean±SD presented quantitative variables. Results: Out of 280 classified as diagnosed patients of Adhesive capsulitis in correlational study with mean and standard deviation of age is 49.75±8.19, Among 280, 33.9% were males and 66.1% were females. This study enumerates correlation between SPADI and HADS-A and between SPADI and HADS-D and the correlation is significant at the 0.01 level(2-tailed). Of the 280 FS patients, 62.5% had a high risk of anxiety and 37.5% were without anxiety. Conclusion: It was concluded in our study that there is strong association of depression and anxiety with Shoulder pain and Disability index in Adhesive Capsulitis. Keywords: Frozen Shoulder, SPADI, HADS and Depression.