BackgroundPrader-Willi syndrome (PWS) is an imprinting disorder caused by the absence of paternal expressed genes in the Prader-Willi critical region (PWCR) on chromosome 15q11.2-q13. Three molecular mechanisms have been known to cause PWS, including a deletion in the PWCR, uniparental disomy 15 and imprinting defects.ResultsWe report the first case of PWS associated with a single-nucleotide SNRPN variant in a 10-year-old girl presenting with clinical features consistent with PWS, including infantile hypotonia and feeding difficulty, developmental delay with cognitive impairment, excessive eating with central obesity, sleep disturbances, skin picking and related behaviour issues. Whole-exome sequencing revealed a de novo mosaic nonsense variant of the SNRPN gene (c.73C>T, p.R25X) in 10% of DNA isolated from buccal cells and 19% of DNA from patient-derived lymphoblast cells. DNA methylation study did not detect an abnormal methylation pattern in the SNRPN locus. Parental origin studies showed a paternal source of an intronic single-nucleotide polymorphism within the locus in proximity to the SNRPN variant.ConclusionsThis is the first report that provides evidence of a de novo point mutation of paternal origin in SNRPN as a new disease-causing mechanism for PWS. This finding suggests that gene sequencing should be considered as part of the diagnostic workup in patients with clinical suspicion of PWS.

Diversity dilutes lopsidedness that is inherent in a homogenous environment, and hence allows achievement of equilibrium. However, if heterogeneous groups comprising a diverse environment are incompatible with each other and unable to harness strengths and overcome weaknesses, it may lead to greater disequilibrium. The present research focuses on the diversity created in the organizations as a result of caste-based reservation system (affirmative action). The aim was to analyze the perception of the employees, belonging to both the general and the reserved category groups towards the diversity climate of their organizations. Three hundred participants, incorporating 123 general category men (GCM), 90 general category women (GCW), 66 reserved category males (RCM) and 21 reserved category women (RCW) participated in the study. They were all working in public/government sector organizations and were having firsthand experience of quota system at their workplace. A mixed methodology was adopted: Perceived diversity climate questionnaire (Surendra Kumar Sia, 2008); semi-structured open-ended question based on their views towards the overall quota system; and interview comprising of semi-structured situational questions was also taken with the 30 per cent of the sample. The analysis revealed that the perception of both reserved and general category employees towards the diversity climate of the organizations is poor. Based on the comparison between the four groups under study, the worst perception towards the diversity climate is being held by GCW and the best perception is held by RCW. The present research work also provides implications for improving the situation in terms of managing diversity created by the quota system.

No abstract

Crisis is inevitable and in today’s scenario with the pandemic affecting every aspect of our lives, crisis has become something which every industry has had to deal with. The more important aspect today is, how to deal with crisis today.  To do so it becomes necessary to understand and evaluate the impact it has on the brand. The study focuses on the impact of crisis on brand image and reputation. The study was conducted amongst the people of Jalandhar with a sample of 130. This study aims at evaluating the relation between a company and it consumers, the way they perceive business news and the manner in which they react to crisis by continuing to support the brand and purchasing.