Cystic fibrosis in Pakistan: population harbouring rare variants non-responsive to CFTR modulators and the dilemma of poor health facilities.

Background: Pathogenic mutations in the CFTR gene disrupt the normal function of the chloride ion channel CFTR protein, resulting in Cystic Fibrosis (C.F.).

Revisiting Tension Band Principle Using Fiber Tape in Patella Fractures in Terms of Functional Outcomes, Complications, and Resurgery.

Introduction: Post-operative complications related to hardware, particularly symptoms caused by it, such as implant impingement, wire breakage, and skin infection are frequently reported following surgical management of patellar fractures with stainless steel wires. As a potential solution, some researchers have advocated for the use of non-absorbable sutures for fracture fixation. This study aims to investigate the clinical and radiological outcomes of patients treated with fiber taping as an alternative technique.

Emerging trends in long-acting sustained drug delivery for glaucoma management.

Glaucoma is an optic neuropathy in which progressive degeneration of retinal ganglion cells and the optic nerve leads to irreversible visual loss. Glaucoma is one of the leading causes of blindness. The pathogenesis of glaucoma is determined by different pathogenetic mechanisms, including increased intraocular pressure, mechanical stress, excitotoxicity, resistance to aqueous drainage and oxidative stress.

Molecular dynamics simulation based prediction of T-cell epitopes for the production of effector molecules for liver cancer immunotherapy.

Liver cancer is the sixth most frequent malignancy and the fourth major cause of deaths worldwide. The current treatments are only effective in early stages of cancer. To overcome the therapeutic challenges and exploration of immunotherapeutic options, broad spectral therapeutic vaccines could have significant impact.

Stratified Medicine Paediatrics: Cell free DNA and serial tumour sequencing identifies subtype specific cancer evolution and epigenetic states.

We profiled a large heterogenous cohort of matched diagnostic-relapse tumour tissue and paired plasma-derived cell free DNA (cfDNA) from patients with relapsed and progressive solid tumours of childhood. Tissue and cfDNA sequencing results were concordant, with a wider spectrum of mutant alleles and higher degree of intra-tumour heterogeneity captured by the latter, if sufficient circulating tumour-derived DNA (ctDNA) was present. Serial tumour sequencing identified putative drivers of relapse, with alterations in epigenetic drivers being a common feature.