- Mosquito-borne diseases and control
- Viral Infections and Vectors
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Malaria Research and Control
- Computational Drug Discovery Methods
- RNA regulation and disease
- Thyroid Cancer Diagnosis and Treatment
- Blood donation and transfusion practices
- SARS-CoV-2 and COVID-19 Research
- Thyroid Disorders and Treatments
- Retinal Imaging and Analysis
- HIV, Drug Use, Sexual Risk
- Cancer-related gene regulation
- Congenital heart defects research
- Cardiac electrophysiology and arrhythmias
- Photoreceptor and optogenetics research
- Genomics and Rare Diseases
- HIV/AIDS Research and Interventions
- Fetal and Pediatric Neurological Disorders
- Blood Pressure and Hypertension Studies
- Toxoplasma gondii Research Studies
University of Aberdeen
2024-2025
Allama Iqbal Medical College
2013-2022
Jinnah Postgraduate Medical Center
2012-2022
University of Health Sciences Lahore
2016-2021
Shaheed Zulfiqar Ali Bhutto Institute of Science and Technology
2020-2021
Pakistan Institute of Medical Sciences
2016-2019
Rahnuma
2016
Abstract Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–3% of the general population. Although research into genetic causes ID has recently gained momentum, identification pathogenic mutations that cause autosomal recessive (ARID) lagged behind, predominantly due to non-availability sizeable families. Here we present results exome sequencing in 121 large consanguineous Pakistani In 60 families, identified homozygous or compound heterozygous...
Scientific data regarding effects of platelet transfusion on count in dengue-related thrombocytopenia is scanty.A single center, randomized non-blinded trial was conducted adult patients with dengue fever and counts less than 30,000/μl. Patients were to treatment control group. Treatment group received donor platelets. post-transfusion increment (PPI) ≥10,000/μl and/or corrected (CCI) ≥5,000/μl 1 h considered responders. Primary outcome increments at 24 72 h.87 enrolled, 43 (48.2%)...
Purpose: To identify the genetic origins of autosomal recessive congenital cataracts (arCC) in Pakistani population. Methods: Based on hypothesis that most arCC patients consanguineous families Punjab areas Pakistan should be homozygous for causative mutations, affected individuals were screened homozygosity nearby highly informative microsatellite markers and then pathogenic mutations by DNA sequencing. A total 83 unmapped 33 known candidate genes. Results: Patients 32 near at least 1 CC...
Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss males females. In many PS subjects, causative variants have not been found the five reported genes. The objective of this study was to identify genetic cause an extended consanguineous family with six deaf individuals. Whole exome sequencing (WES) completed on four affected members large family, co-segregation confirmed Sanger...
We conducted this study to determine the frequency of malaria and dengue-malaria co-infection in patients admitted our hospital as 'probable' cases dengue fever during 2012 outbreak dengue, ascertain whether was more severe than either infection alone.This cross-sectional observational at Jinnah Hospital Lahore, Pakistan between August November 2012. Patients with 2-10 days two or following: myalgia, arthralgia, retro-orbital pain, headache, skin rash, hemorrhagic manifestations plus...
Objective To evaluate the utility of teleconsultation in provision eye care services during COVID-19 lockdown. Disparities consultation burden sub-specialities and socio-demographic differences utilization were also assessed. Methods Al-Shifa Trust Eye Hospital Rawalpindi began audio video using broadband telecommunication Patients’ consultations’ data gathered first three weeks after commencement this programme compared with from four prior to The weekly ratio overall measured. Chi-Square...
Human cortical development is a complex process involving the proliferation, differentiation, and migration of progenitor cells, all coordinated within dynamic extracellular matrix (ECM). ECM plays crucial role in guiding these processes, yet its specific contributions implications dysregulation neurodevelopmental disorders (NDDs) remain underexplored. In this study, we conducted meta-analysis single-cell RNA sequencing (scRNA-seq) data from 37 donors, gestational weeks (GWs) 8 to 26 across...
KCNE1 encodes a regulatory subunit of the KCNQ1 potassium channel-complex. Both and are necessary for normal hearing cardiac ventricular repolarization. Recessive variants in these genes associated with Jervell Lange-Nielson syndrome (JLNS1 JLNS2), cardio-auditory characterized by congenital profound sensorineural deafness prolonged QT interval that can cause arrhythmias sudden death. Some normal-hearing carriers heterozygous missense have intervals, dominantly inherited phenotype designated...
Although most symptomatic dengue infections follow an uncomplicated course, complications and unusual manifestations are increasingly being reported due to rising disease burden. Expanded syndrome is a new entity added into World Health Organization (WHO) classification system incorporate this wide spectrum of manifestations. We report case expanded with subacute thyroiditis intracerebral hemorrhage. This the first in infection. A 20 years old man presented fever, myalgias, arthralgias,...
To elucidate the novel molecular cause in two unrelated consanguineous families with autosomal recessive intellectual disability.A combination of homozygosity mapping and exome sequencing was used to locate plausible genetic defect family F162, while only followed PKMR65. The protein 3D structure visualized University California-San Francisco Chimera software.All five patients from both presented severe disability, aggressive behavior, speech motor delay. Four had microcephaly. We identified...
Short stature is defined as height below 3rd centile. Causes of short can range from familial, endocrine disorders, chronic diseases to chromosomal disorders. Most common cause in literature being idiopathic stature. Early detection and management remedial disorders like malnutrition vitamin D deficiency, Endocrine growth hormone deficiency & hypothyroidism lead attainment expected height. Pakistani data shows the most Our study aimed at detecting causes children/adolescents an referral...
Objective: We conducted this study to review deaths due dengue fever (DF) during a large outbreak of DF in Lahore, Pakistan. Methods: reviewed at Jinnah Hospital Lahore between August and November 2011. Clinical laboratory data were abstracted. The 2011 World Health Organization Regional Office for South-East Asia (WHO SEARO) guidelines used classify the disease. Results: Out 128,634 probable patients who visited outpatient department, 2313 hospitalized; 1699 (73.3%) male. RT-PCR was...
Aim: To observe the combined effect of platelet-rich plasma (PRP) and preconditioned adipose-derived mesenchymal stem cells (ADMSCs) on injured articular cartilage rat. Materials & methods: Animals in study received an intra-articular injection PRP ADMSCs, both combination separately. The response to therapeutic intervention was evaluated by inflammatory markers, proteoglycans content, chondrogenesis gene expression analyses. Results: therapy resulted a reduction IL-6 TNF-α, increased...
The ongoing pandemic of Coronavirus Disease 2019 (COVID-19), the disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has posed a serious threat to global public health. Currently no approved drug or vaccine exists against SARS-CoV-2. Drug repurposing, represented as an effective discovery strategy from existing drugs, is time efficient approach find drugs SARS-CoV-2 in this emergency situation. Both experimental and computational approaches are being employed...
South Asian population has a particularly high prevalence of thyroid disorders mainly due to iodine deficiency and goitrogen use. There is no data available for in the general living nonmountainous regions Pakistan.A total 2335 residents Pak Pattan, Punjab, Pakistan were interviewed about demographic, dietary, medical environmental history as well screened goiter. Individuals all ages either gender included.Median age was 34 (10-88) years 1164 (49.9%) males. Median monthly income 49...
Objective: To find out prevalence of Diabetic Retinopathy in general population three districts Pakistan.Methods: A community based cross-sectional survey was conducted large Pakistan namely Rawalpindi Punjab, Peshawar Khyber Pakhtoonkhwa and Hyderabad Sindh between January 2013 August 2015. Lady Health Workers identified individuals at high risk for diabetes on pre-defined criteria. High tested dysglycemia. Fundoscopic evaluation evidence DR performed all with a random blood glucose...
We investigated an outbreak of darkening skin, bleeding from multiple sites, leucopenia and thrombocytopenia in ischaemic heart disease patients. Case patients were defined as who had received medicines the pharmacy Punjab Institute Cardiology between 1 December 2011 12 January 2012 developed any one following: site, leucopenia. Clinical drug-related data abstracted. All 664 case iso-sorbide-mono-nitrate contaminated with about 50 mg pyrimethamine, 151 (23%) died. The median age 117 admitted...
Background: Thrombocytopenia is a prominent feature of dengue fever and hemorrhagic fever. Papaya leaves have been used by many patients due to their perceived beneficial effect on platelet count. However, scientific data this lacking. Methods: A single centre, blinded, randomized placebo controlled trial was conducted at the Department Medicine, Jinnah Hospital Lahore. Adult admitted with diagnosis (DF) or (DHF) counts ≤50 × 109/L were eligible for study. After obtaining written informed...
Dengue virus can co-infect with a number of viruses, bacteria, and parasites which dengue malaria co-infection is most well-known. We report rare case typhoid fever the development hemorrhagic (DHF) during outbreak. The second spike high-grade following initial defervescence antibiotic therapy, manifestations, new onset leucopenia thrombocytopenia, evidence plasma leakage raised suspicion DHF. Diagnosis was made by seroconversion for anti-dengue immunoglobulin M (IgM) antibodies...