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Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families
BackgroundEpilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In...
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Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families
BackgroundRetinitis Pigmentosa (RP) is a clinically and genetically progressive retinal dystrophy associated with severe visual impairments and...
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Cardiovascular Health and Disease in the Pakistani American Population
Purpose of ReviewThis narrative review seeks to elucidate clinical and social factors influencing cardiovascular health, explore the challenges and...
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Identifying the Health Concerns of Pregnant British Pakistani Women Living in Deprived Areas: A Qualitative Study
IntroductionPregnant British Pakistani women have disproportionately poorer health than the wider population. Bradford has a strong Pakistani...
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USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families
BackgroundRetinitis pigmentosa (RP) is the most common inherited retinal dystrophy, affecting approximately 1 in 4000 individuals worldwide. The most...
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Exploring self-care and cervical cancer prevention attitudes and practices among Moroccan and Pakistani immigrant women in Catalonia, Spain: a comparative qualitative study
BackgroundSelf-care and preventive health strategies may trigger health inequities when individuals’ cultural values and health beliefs are not fully...
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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
BackgroundSkeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate...
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Contributing risk factors of common psychiatric disorders in the Pakistani population
With an increasing incidence of psychiatric disorders worldwide, there is a need for a better understanding of the population-specific contributing...
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A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family
BackgroundRetinitis pigmentosa (RP) is one of the most frequent hereditary retinal diseases that often starts with night blindness and eventually...
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Perpetuation of gender discrimination in Pakistani society: results from a sco** review and qualitative study conducted in three provinces of Pakistan
BackgroundGender discrimination is any unequal treatment of a person based on their sex. Women and girls are most likely to experience the negative...
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RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature
BackgroundSkeletal dysplasia is a heterogeneous group of disorders resulting from different genetic variants in humans. The current study was...
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Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population
BackgroundVentricular septal defects (VSDs) are one of the leading causes of death due to cardiac anomalies during the first months of life. The...
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Height-for-age and weight-for-age growth charts for Pakistani infants under six months: derived from a novel case selection method using multiple indicator cluster survey data
BackgroundIn the past two decades, there has been a growing recognition of the need to establish indigenous standards or reference growth charts,...
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Preliminary studies on apparent mendelian psychotic disorders in consanguineous families
BackgroundPsychiatric disorders are characterized by alteration in emotions, mood and behavior. Genetics is known to play a significant role in the...
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Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy
BackgroundMulticentric osteolysis nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder characterized by marked progressive bone...
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An Exploration of Common Dyadic Co** Strategies: A Perspective from Pakistani Couples Living with Chronic Conditions
This qualitative study was conducted to explore the common dyadic co** (DC) efforts of married couples, with a chronically ill partner. The sample...
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A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023
BackgroundInherited retinal degenerations (IRDs) are a group of rare genetic conditions affecting retina of the eye that range in prevalence from 1...
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Argumentation in end-of-life conversations with families in Dutch intensive care units: a qualitative observational study
PurposeIn intensive care units (ICUs), decisions about the continuation or discontinuation of life-sustaining treatment (LST) are made on a daily...
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Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing
PurposeThe present study aimed to identify the molecular etiology of non-syndromic congenital cataract (CC) using whole-exome sequencing (WES)...
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Experiences of frontline Pakistani emigrant physicians combating COVID-19 in the United Kingdom: a qualitative phenomenological analysis
BackgroundThis study aims to explore the experiences, beliefs, feelings, and challenges faced by Pakistani migrant doctors working in the United...
