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Author(s):  
Salma Nawaz ◽  
Mouna Koser ◽  
Amina Boota ◽  
Malik Shahzad Shabbir

The objective of this research paper is to analyze the status of women in Pakistan in other words status provided to women in Pakistani family structure and also to analyze its status in Islam. This study describes to what extent, women were oppressed and abused by way of every attainable method in societies. This study has collected secondary data from books, research papers, journals and different reports. It is noted that women facing violence at various stages in their life in Pakistan. The teaching of Islam is neglected here regarding women's status. It was concluded that, With regards to Pakistan, the indispensable issue is that our religion Islam has not had the option to cancel the exceptionally old un-Islamic and furthermore cruel social indecencies that are being exercised in the land. Hence, ancestral family, tribal imagery has gotten more prevailing and helpful than the confidence of Islam. So it was recommended that the government should maintain the status of women according to teaching of Islam.


2021 ◽  
Vol 94 ◽  
pp. 8-12
Author(s):  
Shumaila Zulfiqar ◽  
Muhammad Tariq ◽  
Shafaq Ramzan ◽  
Ayaz Khan ◽  
Muhammad Sher ◽  
...  

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1915
Author(s):  
Nadia Farooqi ◽  
Louise A. Metherell ◽  
Isabelle Schrauwen ◽  
Anushree Acharya ◽  
Qayum Khan ◽  
...  

Introduction: Cardiomyopathies are diseases of the heart muscle and are important causes of heart failure. Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that can be acquired, syndromic or non-syndromic. The current study was conducted to explore the genetic defects in a Pakistani family with cardiac disease and features of Marfan’s syndrome (MFS). Methods: A family with left ventricle (LV) diastolic dysfunction and MFS phenotype was assessed in Pakistan. The clinical information and blood samples from the patients were collected after physical, cardiovascular, and ophthalmologic examinations. An affected individual (proband) was subjected to whole-exome sequencing (WES). The findings were further validated through Sanger sequencing in the family. Results: Through WES and sanger validation, we identified a novel variant NM_000138.4; c.1402A>G in the Fibrillin-1 (FBN1) gene that segregates with LV diastolic dysfunction and MFS. Furthermore, bioinformatic evaluation suggested that the novel variant is deleterious and disease-causing. Conclusions: This study identified for the first time a novel FBN1 variant in a family with LV diastolic dysfunction and MFS in Pakistan.


Author(s):  
Muhammad Muzammal ◽  
Muhammad Zeeshan Ali ◽  
Beatrice Brugger ◽  
Jasmin Blatterer ◽  
Safeer Ahmad ◽  
...  

Abstract Background L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder that occurs due to accumulation of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF), plasma and urine. The clinical manifestation of L2HGA includes intellectual disability, cerebellar ataxia, epilepsy, speech problems and macrocephaly. Methods In the present study, we ascertained a multigenerational consanguineous Pakistani family with 5 affected individuals. Clinical studies were performed through biochemical tests and brain CT scan. Locus mapping was carried out through genome-wide SNP genotyping, whole exome sequencing and Sanger sequencing. For in silico studies protein structural modeling and docking was done using I-TASSER, Cluspro and AutoDock VINA tools. Results Affected individuals presented with cognitive impairment, gait disturbance, speech difficulties and psychomotor delay. Radiologic analysis of a male patient revealed leukoaraiosis with hypoattenuation of cerebral white matter, suggestive of hypomyelination. Homozygosity mapping in this family revealed a linkage region on chromosome 14 between markers rs2039791 and rs781354. Subsequent whole exome analysis identified a novel frameshift mutation NM_024884.3:c.180delG, p.(Ala62Profs*24) in the second exon of L2HGDH. Sanger sequencing confirmed segregation of this mutation with the disease phenotype. The identification of the most N-terminal loss of function mutation published thus far further expands the mutational spectrum of L2HGDH.


Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1282
Author(s):  
Shafaq Ramzan ◽  
Stephanie Tennstedt ◽  
Muhammad Tariq ◽  
Sheraz Khan ◽  
Hafiza Noor Ul Ayan ◽  
...  

Cardiac conduction disease (CCD), which causes altered electrical impulse propagation in the heart, is a life-threatening condition with high morbidity and mortality. It exhibits genetic and clinical heterogeneity with diverse pathomechanisms, but in most cases, it disrupts the synchronous activity of impulse-generating nodes and impulse-conduction underlying the normal heartbeat. In this study, we investigated a consanguineous Pakistani family comprised of four patients with CCD. We applied whole exome sequencing (WES) and co-segregation analysis, which identified a novel homozygous missense mutation (c.1531T>C;(p.Ser511Pro)) in the highly conserved kinase domain of the cardiac troponin I-interacting kinase (TNNI3K) encoding gene. The behaviors of mutant and native TNNI3K were compared by performing all-atom long-term molecular dynamics simulations, which revealed changes at the protein surface and in the hydrogen bond network. Furthermore, intra and intermolecular interaction analyses revealed that p.Ser511Pro causes structural variation in the ATP-binding pocket and the homodimer interface. These findings suggest p.Ser511Pro to be a pathogenic variant. Our study provides insights into how the variant perturbs the TNNI3K structure-function relationship, leading to a disease state. This is the first report of a recessive mutation in TNNI3K and the first mutation in this gene identified in the Pakistani population.


2021 ◽  
Author(s):  
Ikram Ullah ◽  
Muhammad Aamir ◽  
Muhammad Ilyas ◽  
Akmal Ahmed ◽  
Musharraf Jelani ◽  
...  

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Asif Naveed Ahmed ◽  
Raheel Tahir ◽  
Niamat Khan ◽  
Mushtaq Ahmad ◽  
Muhammad Dawood ◽  
...  

Abstract Background Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 4000 individuals worldwide. The most common form of syndromic RP is Usher syndrome (USH) accounting for approximately 20–30 % of RP cases. Mutations in the USH2A gene cause a significant proportion of recessive non-syndromic RP and USH type II (USH2). This study aimed to determine the causative role of the USH2A gene in autosomal recessive inherited ocular diseases and to establish genotype-phenotype correlation associated with USH2A variants. Methods We performed direct Sanger sequencing and co-segregation analysis of the USH2A gene to identify disease causing variants in a non-syndromic RP family, two USH2 families and two Keratoconus (KC) families. Results Disease causing variants in the USH2A gene were identified in two families displayed KC and USH2 phenotypes. A novel variant c.4029T > G, p.Asn1343Lys in the USH2A gene was detected in a Pakistani family with KC phenotype. In addition, a missense variant (c.7334 C > T, p. Ser2445Phe) in the USH2A gene was found segregating in another Pakistani family with USH2 phenotype. Homozygosity of identified missense USH2A variants was found associated with autosomal recessive inherited KC and USH2 phenotypes in investigated families. These variants were not detected in ethnically matched healthy controls. Moreover, the USH2A variants were predicted to be deleterious or potentially disease causing by PolyPhen-2, PROVEAN and SIFT. Conclusions This study provided first evidence for association of a novel USH2A variant with KC phenotype in a Pakistani family as well as established the phenotype-genotype correlation of a USH2A variant (c.7334 C > T, p. Ser2445Phe) with USH2 phenotype in another Pakistani family. The phenotype-genotype correlations established in present study may improve clinical diagnosis of affected individuals for better management and counseling.


2021 ◽  
Vol VI (I) ◽  
pp. 143-155
Author(s):  
Khadija Majeed ◽  
Aniqa Rashid ◽  
Samina Ali Asghar

This article presents a close reading of the ironic present and nostalgic nature of the Pakistani family system through a postmodern lens. Haider's How it happened depict irony and nostalgia in a new and postmodern manner. This novel exposes the ironized culture of the Pakistani family system and the nostalgic nature of societal relationships. This is descriptive research, and data is analyzed theoretically. The theoretical framework of this research is based upon the theory of irony and nostalgia in term of postmodernism, by Linda Hutcheon in her dialogical article Irony, Nostalgia, and Postmodernism: A Dialogue, where two terms irony and nostalgia has been treated with a new and unique perspective. This research investigates how our concepts and views about different things in life get change with the passage of time. This research article concludes that the ostentatious rejection of the past is not possible; nostalgia can consciously be denied but deeply felt.


2020 ◽  
pp. 1-8
Author(s):  
Safdar Abbas ◽  
Beatrice Brugger ◽  
Muhammad Zubair ◽  
Sana Gul ◽  
Jasmin Blatterer ◽  
...  

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