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2021 ◽  
Vol 1 (2) ◽  
Author(s):  
Rongina Narzary

Mohsin Hamid, one of the powerful voices to emerge from Pakistan engages with themes that go beyond the partition of India and Pakistan in 1947 and portrays contemporary issues relevant to Pakistan. In the process, Hamid consciously performs the role of the mediator and attempts to explain his country to the readers. In his two novels, Moth Smoke and The Reluctant Fundamentalist Hamid not only represents modern-day Pakistan but also offer resistance to the association of Pakistan with terrorism thereby replicating the postcolonial tendency to “write back” and reclaim one’s identity. Furthermore, he offers a nuanced understanding of the hostilities that prevail between India and Pakistan. Fictional representations of Islam and Muslim identities by writers of Pakistani origin have received increased attention, especially in the post 9/11 political climate with its attendant reductive representations of Islamic fundamentalism. The ‘war on terror’ which has had the effect of equating Islam and Muslims with terrorism has become a dominant political narrative in Europe and the US over the last decade. It is such diffused representation of Muslim identity which has evoked criticism in the ‘orient’ and Hamid shines bright in this regard.


2021 ◽  
pp. 104973232110675
Author(s):  
Abirami Srivarathan

The practice of qualitative research demands reflexivity throughout the entire research process, with special attention directed towards researcher positioning. In this article, I explore how aspects and characteristics of my social situation positioned me contrary to my expectations regarding researcher positioning. I draw on individual interviews, focus group discussions and field notes about community-based health promotion interventions among residents of Danish, Turkish and Pakistani origin in a deprived social housing area in Denmark. Rather than insider-outsider positioning, the concept represented by the term ‘halfie’ unfolds the complexity of my researcher positioning: less minority ethnic than the residents of Turkish and Pakistani origin and less Danish than the residents of Danish origin, but similar to both, being a descendant of Sri Lankan Tamil origin brought up in a Danish social housing area. Finally, I present methodological and ethical implications of being a halfie in the context of qualitative health research.


Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1899
Author(s):  
Ambrin Fatima ◽  
Uzma Abdullah ◽  
Muhammad Farooq ◽  
Yuan Mang ◽  
Mana M. Mehrjouy ◽  
...  

Schizophrenia is a disabling neuropsychiatric disorder of adulthood onset with high heritability. Worldwide collaborations have identified an association of ~270 common loci, with small individual effects and hence weak clinical implications. The recent technological feasibility of exome sequencing enables the identification of rare variants of high penetrance that refine previous findings and improve risk assessment and prognosis. We recruited two multiplex Pakistani families, having 11 patients and 19 unaffected individuals in three generations. We performed genome-wide SNP genotyping, next-generation mate pairing and whole-exome sequencing of selected members to unveil genetic components. Candidate variants were screened in unrelated cohorts of 508 cases, 300 controls and fifteen families (with 51 affected and 47 unaffected individuals) of Pakistani origin. The structural impact of substituted residues was assessed through in silico modeling using iTASSER. In one family, we identified a rare novel microduplication (5q14.1_q14.2) encompassing critical genes involved in glutamate signaling, such as CMYA5, HOMER and RasGRF2. The second family segregates two ultra-rare, predicted pathogenic variants in the GRIN2A (NM_001134407.3: c.3505C>T, (p.R1169W) and in the NRG3 NM_001010848.4: c.1951G>A, (p.E651K). These genes encode for parts of AMPA and NMDA receptors of glutamatergic neurotransmission, respectively, and the variants are predicted to compromise protein function by destabilizing their structures. The variants were absent in the aforementioned cohorts. Our findings suggest that rare, highly penetrant variants of genes involved in glutamatergic neurotransmission are contributing to the etiology of schizophrenia in these families. It also highlights that genetic investigations of multiplex, multigenerational families could be a powerful approach to identify rare genetic variants involved in complex disorders.


2021 ◽  
Author(s):  
Warda Nawal ◽  
Asmat Ullah ◽  
Ubaid Ullah ◽  
Kanza Farrakh ◽  
Farooq Ahmad ◽  
...  

Abstract Background Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved in nucleotide excision repair (NER) pathway have been reported to cause the XP. Methods and Results Three large consanguineous families of Pakistani origin displaying typical clinical hallmarks of XP were evaluated at clinical and molecular level. Homozygosity mapping using microsatellite markers established linkage of the families to XPC gene on chromosome 3p25.1. Sanger sequencing of the XPC gene identified a novel homozygous single bp deletion [NM_004628.5; c.1934del; p.(Pro645Leufs*5)] and two previously reported mutations that included a nonsense [c.1243 C>T; p.(Arg415*)] and a splice acceptor site (c.2251–1 G>C), all segregating with the disease phenotypes in the families. Conclusion This report has extended the spectrum of mutations in the XPC gene and will also facilitate in diagnosis of XP and counselling of families inheriting it, which is the only inevitable tool for preventing the disease occurrence in future generations.


2021 ◽  
Vol 48 (10) ◽  
pp. 6821-6829
Author(s):  
Muhammad Shakeel ◽  
Salman Ahmed Khan ◽  
Anum Jabeen Mughal ◽  
Muhammad Irfan ◽  
Daniel C. Hoessli ◽  
...  

2021 ◽  
Author(s):  
Tiffany C Yang ◽  
Kimberly Parker Truesdale ◽  
Brian Kelly ◽  
Marena Ceballos Rasgado ◽  
Maria J Bryant

Background: Weight perception may differ by ethnicity but is not well-understood, particularly among migrants to the United Kingdom (UK). It is also unknown whether a figure rating scale (FRS) or perceived weight question (PWQ) is more accurate for assessing body weight perception. Methods: At 24-months postpartum, women in the Born in Bradford cohort (Bradford, UK) completed the 9-item Stunkard FRS and a 7-category PWQ. Both scales were condensed to weight categories representing the World Health Organisation cut-offs. Weighted kappa statistics assessed agreement between measured and perceived weight categories. Chi-squared and Fisher's exact tests assessed categories of misperception by ethnicity and migration and logistic regression was used to examine odds of underestimation. Results: Thirty percent of white British and 23% of Pakistani-origin women had obesity. Agreement between measured and perceived weight categories were similar for white British women using either a visual scale or weight question (FRS: Kappa; [95%CI]: 0.61 [0.56, 0.65]; PWQ: 0.61 [0.55, 0.68)]. Overall agreement was lower for Pakistani-origin women with the visual scale performing better (FRS (0.58 [0.52, 0.63]) vs PWQ (0.47 [0.40, 0.54]). Pakistani-origin women, particularly those born outside the UK, were more likely to underestimate their body weight compared to white British women; this was greater with the PWQ (18% vs 10%; p<0.001) than FRS (14% vs 6%; p<0.001). Pakistani-origin women were 154% more likely to underestimate their body weight compared to white British women with the FRS and 111% more likely to underestimate when using the PWQ. Conclusion: We observed ethnic differences in weight misperception with Pakistani-origin women more likely to underestimate their weight compared to white British women. Our findings suggest visual scales, rather than perceived weight questions, are more appropriate for the self-assessment of body weight.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Muhammad Imran Qadeer ◽  
Ali Amar ◽  
Yung‑Yu Huang ◽  
Eli Min ◽  
Hanga Galfalvy ◽  
...  

An amendment to this paper has been published and can be accessed via a link at the top of the paper.


2021 ◽  
Vol 17 (49) ◽  
pp. 154-184
Author(s):  
Dina N. Karavaeva ◽  

The article presents the results of a study of British Muslims and multiculturalism in the context of national identity in modern Britain. The authors investigate the mechanisms, strategies and roles of religious, social and gender identities of modern “British Muslim women”, British citizens and residents of cities such as London, Manchester, Oldham, and Bradford. The article focuses on the so-called “third generation” of Muslim women of Bangladeshi and Pakistani origin, born and educated in Britain, the so-called Britons “in-between”, and their Britishness. The authors show that British Islam today represents not so much a danger of radicalization, cultural segregation, anti-secular tendencies contrary to British culture—or is breaking with cultural and family connections between different generations within the “immigrant” community. Rather, it is a resource for uniting disparate ethnic communities, contributing to the success of the young generation’s social competition with representatives of “indigenous peoples”, personalization and the reduction of religious radicalization. The study is based on a variety of textual, visual and material sources, as well as original research data (70 in-depth interviews, 52 respondents) from the field seasons of 2012–2020 in the UK’s Pakistan-Bangladeshi regions of Rusholm and Longsite in Manchester, Glodwick in Oldham, Pakistani Manningham in Bradford in Northern England, and the Bangladeshi Tower Helmets in London.


2021 ◽  
Author(s):  
Reema Farooqui

This study explores the settlement experiences of ten women of Pakistani origin who belong to transnational astronaut families. It examines their reasons for choosing to live as an astronaut family, the challenges they face, and the strategies they use for settling down in Canada in the absence of their husbands. The sample was recruited from among Pakistani immigrant families who had moved to the Greater Toronto Area in the last 10 years. Semi structured in-depth interviews were conducted with the women. Several important findings emerged from this study including: the privileges these women enjoy alongside their many oppressions; the impact of the traditional Pakistani cultural patriarchy on their lives; the unrecognized potential mental health problems these women face due to the repetitive cycle of reunions and separations. In conclusion, recommendations for future practices and policy changes as well as areas for further research are discussed.


2021 ◽  
Author(s):  
Farah Bibi ◽  
Asmat Ullah ◽  
Thomas Bourinaris ◽  
Stephanie Efthymiou ◽  
Yamna Kriouile ◽  
...  

Abstract Background Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder characterized by progressive destruction of nerve cells in the brain and spinal cord. It is caused by genetic variations in the HEXA gene leading to a deficiency of β hexosaminidase A (HEXA) isoenzyme activity. This study aimed to identify causative gene variants in 3 unrelated consanguineous families presented with TSD from Pakistan and Morocco. Methods Detailed clinical investigations were carried out on probands in 3 unrelated consanguineous families of Pakistani and Moroccan origin. Targeted gene sequencing and Whole Exome Sequencing (WES) were performed for variant identification. Candidate variants were checked for co-segregation with the phenotype using Sanger sequencing. Public databases including ExAC, GnomAD, dbSNP and the 1,000 Genome Project were searched to determine frequencies of the alleles. Conservation of the missense variants was ensured by aligning orthologous protein sequences from diverse vertebrate species. Results We report on 3 children presented with Tay-Sachs Disease. The β hexosaminidaseA enzyme activity was reduced in the Pakistani patient in one of the pedigrees. Genetic testing revealed 2 novel homozygous variants (p.Asp386Alafs*13 and p.Trp266Gly) in the gene HEXA in Pakistani and Moroccan patients respectively.The third family of Pakistani origin revealed a previously reported variant (p.Tyr427Ilefs*5) in HEXA. p.Tyr427Ilefs*5 is the most commonly occurring pathogenic variationin Ashkenazi but was not reported in Pakistani population. Conclusion Our study further expands the ethnic and mutational spectrum of Tay-Sachs disease emphasizing the usefulness of WES as a powerful diagnostic tool where enzymatic activity is not performed for Tay-Sachs disease. The study recommends targeted screening for these mutations (p.Tyr427Ilefs5) for cost effective testing of TSD patients. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.


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