Noninvasive prenatal testing of beta-thalassemia for common Pakistani mutations: a comparative study using cell-free fetal DNA from maternal plasma and chorionic villus sampling.

Background: The discovery of circulating cell-free fetal DNA (cff-DNA) in maternal plasma has inspired the noninvasive prenatal testing (NIPT) approaches for various genetic fetal screening including rhesus D typing, sex determination, aneuploidies, and single-gene disorders.

Objective: Noninvasive determination of paternally inherited beta-thalassemia mutations in maternal total cell-free DNA (cf-DNA) by using allele-specific amplification refractory mutation system (ARMS) real-time PCR (RT-PCR) in concordance with the conventional invasive method.

Methods: An observational study was conducted at the Armed Forces Institute of Blood Transfusion in collaboration with the genetics resource center from March 2021 to August 2021.

Association study of interleukin-1 receptor associated kinase 1 rs3027898 A/C gene polymorphism and preeclampsia in Pakistani population.

Objectives: To find the association between interleukin-1 receptor-associated kinase 1 rs3027898 gene polymorphism and preeclampsia.

Methods: The case-control study was conducted from October, 2018 to September, 2019 at the Railway General Hospital and the Department of Biochemistry, Islamic International Medical College, Rawalpindi, Pakistan, and comprised patients diagnosed with preeclampsia and healthy controls. The interleukin receptor-associated kinase-1 polymorphism was determined using multiplex tetra primer amplification refractory mutation system polymerase chain reaction.

Association of miR-146α gene polymorphism and expression levels of its target protein RhoA in Pakistani breast cancer patients.

Objective: To assess the association of miR-146a and its target protein RhoA expression levels in breast cancer.

Methods: The case-control study was conducted at Riphah International University, Islamabad, Pakistan, from March 2017 to November 2018, and comprised confirmed breast cancer cases and controls who were matched for age and ethnicity. Genotyping and expression profiling of archived samples was performed.

Glutathione S-Transferase Theta 1 / Mu 1 Null Genotype and Risk of Development of Actinic Keratosis in Pakistani Population.

Objective: To assess the frequency and association of Glutathione S-Transferase Theta 1 and Glutathione S-Transferase Mu 1 null genotypes in development of actinic keratosis (AK) in a group of Pakistani population.

Study Design: Case-control analytical study.

Place And Duration Of Study: Department of Biochemistry, Islamic International Medical College, Rawalpindi in collaboration with Department of Dermatology, Railway Hospital and Rural Health Center, District Health Office, Rawalpindi from September 2018 to September 2019.

Association of single nucleotide polymorphism of transforming growth factor β1 (T29C) in breast cancer patients: a case control study in Rawalpindi.

Objective: To determine the association of single nucleotide polymorphism in three CC, TT and TC genotypes of transforming growth factor β1 T29C in breast cancer patients.

Methods: The case-control study was conducted from April 2017 to April 2018 at the Islamic International Medical College, Rawalpindi, Pakistan, in collaboration with Nuclear Oncology Medicine and Radiotherapy Institute and Holy Family Hospital, Rawalpindi. Using convenience sampling, breast cancer cases and healthy controls were enrolled.

Comparison of asymmetric dimethylarginine levels between pre- and post-menopausal women - a cross-sectional study from Rawalpindi.

Objective: To compare serum levels of asymmetric dimethylarginine between premenopausal and postmenopausal women, and to evaluate its relationship with time since onset of menopause.

Methods: The cross-sectional comparative study was conducted at Islamic International Medical College, Rawalpindi, Pakistan, from April 2017 to March 2018, and comprised individuals recruited from the Gynaecology and Obstetrics outpatient department of the Pakistan Railway Hospital in the city. The subjects were divided into two groups; pre-menopausal women in Group I and postmenopausal in Group II.

Genetic polymorphism of and its target gene expression based on ethnicity in Pakistani female breast cancer patients.

Objective: To evaluate the association of rs11614913 C/T genetic variation and its target gene 1 mRNA expression with breast cancer risk in Pakistani female ethnicities.

Methods: This case control study, conducted from March 2017 to November 2018 included 295 breast cancer patients, 295 controls of three Pakistani ethnicities and archived 100 samples of cohort group for genotyping and expression profiling. Genotyping of (rs11614913 C/T) was done by ARMS PCR technique.

Serum Albumin and C3 Complement Levels in Endometriosis.

Objective: To compare the efficacy of albumin and C3 complement as serum marker for the early diagnosis of endometriosis in women of reproductive age.

Study Design: Cross-sectional comparative study.

Place And Duration Of Study: Biochemistry Department, Islamic International Medical College, Rawalpindi, in collaboration with the Gynecology and Obstetrics Department, Pakistan Railways Hospital, Rawalpindi, from March 2017 to February 2018.

To assess the levels of zinc in serum and changes in the lens of diabetic and senile cataract patients.

Objective: To assess the levels of zinc in serum and changes in the lens of diabetic and senile cataract patients

Methods: A comparative cross sectional study was done at LRBT (Layton Rehmatullah Benevolent Trust) free eye hospital Mandra from July 2010 to August 2010. Twenty Type 2 diabetic patients with cataracts and 20 patients without diabetes of senile cataract were included in the study. Glucose levels were determined by glucose oxidase method and zinc levels measured by colorimeteric method (RANDOX).

Effect of smoke on PAPP-A and lipid profile in normal rats.

Cigarette smoking is a major risk factor for atherosclerosis and cardiovascular disease. Active and passive cigarette smoke exposure predisposes to cardiovascular events. Pregnancy associated plasma protein-A is a metalloproteinase of the metzincin super family.