SMS Medical College & Hospital

Cardiovascular diseases have been the major cause of mortality and morbidity all over the world accounting for more than 80% of the deaths from heart attacks and strokes. Hypercholesterolemia, an autosomal disorder of lipoprotein metabolism is one of the foremost causes of CVDs. An increased level of low-density lipoprotein cholesterol (LDL-C) in the plasma results in the rise of incidence rates in disease patients. Several conventional and combinational therapies have been proposed for lowering the LDL-C levels in the blood. These therapeutic agents are designed to target some crucial molecules that participates in the lipid metabolism such as apolipoprotein B, HMGCoA reductase, proprotein convertase subtilisin/kexin 9, etc. Although these therapies are effective but are associated with certain side effects. This article presents an overview on different conventional and nanotechnology-based approaches for the treatment and diagnosis of hypercholesterolemia. Numerous nanomaterial-based therapies including polymeric nanoparticles, cationic lipids, liposomes, dendrimers and inorganic nanoparticles have been discussed in lowering the cholesterol level along with recent advancement in diagnosis and imaging.

This study evaluates the extent of perfusion abnormalities in pediatric patients with traumatic head injury by using computed tomography (CT) perfusion (CTP) and compares the efficacy of voxel-based and whole-brain perfusion data clinically with the functional outcome scales Glasgow Outcome Scale Extended-Pediatric Revision and modified Rankin Scale (mRS).

In this prospective study, 100 eligible patients aged 0-15 years were enrolled. Patients were categorized into having mild, moderate, and severe traumatic brain injury using the Glasgow Coma Scale. CTP scans were performed at admission and at the time of discharge. Both voxel-based and whole-brain perfusion data were acquired at 5 regions of interest: orbitofrontal cortex, internal capsule, thalamus, caudate nucleus, and sensorimotor cortex for cerebral blood perfusion. The extent of perfusion abnormalities was noted in CTP scans. The Glasgow Outcome Scale Extended-Pediatric Revision and modified Rankin Scale were used to clinically evaluate functional outcomes.

Significant differences in CTP findings between voxel-based and whole-brain approaches were noted. Voxel-based scans showed superior predictive value in severe cases, whereas whole-brain scans were promising in moderate cases. Glasgow Coma Scale scores and specific CT parameters (cerebral blood flow and mean transit time.) were also significant predictors of outcomes.

The comparative analysis highlights the complementary roles of voxel-based and whole-brain perfusion CT in predicting functional outcomes in pediatric patients with head injury. Clinicians should consider both approaches when evaluating cerebral perfusion status and making treatment decisions. Further research is warranted to validate these findings and refine imaging protocols to optimize predictive accuracy in this vulnerable population.

Limb-Girdle Muscular Dystrophy (LGMD) is a rare heterogeneous group of neuromuscular disorders distinguished by progressive weakness of limb-girdle muscles. Diagnosis of LGMD is a challenging task and requires multiple obligatory assays.

To study the epidemiology, clinical features, the genetic variability in patients diagnosed with LGMD through Next Generation Sequencing.Material and MethodA retrospective study of 27 patients suspected of LGMD was done to study the phenotypic presentation and the genotypic alteration of the patients, presenting to a tertiary care center in Rajasthan were studied.

Out of the twenty-seven patients suspected of LGMD, nineteen patients took genetic tests, while eight patients underwent biopsy. Among the nineteen patients, seventeen patients were identified with pathogenic mutations. Autosomal Recessive (LGMD-R) was the most common subgroup in this cohort. In the LGMD R1 subgroup, the most common mutation was c.2051-1 G>T and the exon hotspot was 18-22. The deleterious mutations in the LGMD R2 subgroup were distributed along the entire coding sequence, without any hotspot. However, C2E, C2F, and DysF domains contain variants at higher frequencies. The types of mutations were mostly point mutations (34 % of missense mutations and 66 % of nonsense mutations). We identified one novel mutation which was considered as a stop codon. Patients(n = 8) who underwent muscle biopsy for immunohistochemistry, had absent/reduced sarcoglycan uptake (n = 4) or absent dysferlin (n = 2) on the sarcolemma, while the remaining two biopsies were inconclusive (due to multiple protein deficiencies).