Hydroxyapatite nanoparticle mediated delivery of full length dystrophin gene as a potential therapeutic for the treatment of Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration, primarily affecting young males. In this study, we investigated arginine-modified hydroxyapatite nanoparticles (R-HAp) as a novel non-viral vector for DMD gene therapy, particularly for delivering the large 18.8 kb dystrophin gene.

Test-Retest Reliability of Tone Burst-Induced 500 Hz Air-Conduction Masseter Vestibular Evoked Myogenic Potential in Healthy Individuals.

Background And Objectives: Masseter vestibular evoked myogenic potential (mVEMP) is a newly developed tool which is used to assess the vestibulo-trigeminal neural and saccular functioning pathways. Recently, this test was added to a full test battery for evaluating the brainstem of people with neurological disorders and other vestibular diseases. For any test to qualify as a standard test, the test must have high reliability across all testing windows.

Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy (IGIBi006-A and IGIBi008-A) carrying exonic deletions in the dystrophin gene.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder with defect in dystrophin gene that shows features of degeneration of muscle tissue at an early age. Here, we describe iPSC lines generated from LCL of two patients of Indian origin carrying 46-48 and 49-50 exons deletions in DMD. The resulting iPSC lines IGIBi006-A and IGIBi008-A showed all the characteristic features of pluripotency, differentiated into cells of three germ layers in vitro and have no major genetic alterations due to reprogramming process.

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.

Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in the dystrophin gene, resulting in the absence or sparse quantities of dystrophin protein. A precise and timely molecular detection of DMD mutations encourages interventions such as carrier genetic counselling and in undertaking therapeutic measures for the DMD patients.

Targeted sequencing of the locus: A comprehensive diagnostic tool for all mutations.

Background & Objectives: Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder and is caused mainly by deletion, duplication and point mutations in the DMD gene. Diagnosis of DMD has been a challenge as the mutations in the.

Dmd: gene are heterogeneous and require more than one diagnostic strategy for the validation of the mutation.

Sarcomatoid Carcinoma: "A Surgeons Nightmare".

Sarcomatoid carcinoma (SC) is a rare and unique disease of the oral cavity. It is a biphasic squamous cell carcinoma with sarcoma-like characteristics. It is a strikingly aggressive lesion with a rapid rate of growth and a high rate of metastasis.

Efficacy of chimeric ectolysin P128 in drug-resistant Staphylococcus aureus bacteraemia in mice.

Objectives: P128 is a recombinant chimeric ectolysin with potent antistaphylococcal activity. P128 was evaluated as monotherapy and in combination with two standard-of-care (SoC) antibiotics, vancomycin and daptomycin, in mouse models of Staphylococcus aureus bacteraemia.

Methods: Healthy BALB/c mice were challenged (intraperitoneally) with 109 cfu of MRSA strain COL or USA300 and treated with a single dose of P128 (0.

'Sutureless' transconjunctival approach for infraorbital rim fractures.

Aim: To analyze the ease and surgical outcome of using sutureless transconjunctival approach for repair of infra-orbital fractures.

Design: Prospective clinical case series.

Materials And Methods: Totally 5 patients with infra-orbital rim or orbital floor fractures were selected and the fractures were accessed through a pre-septal transconjunctival incision.