Ocular dirofilariasis masquerading as orbital cellulitis: A case report and review of the literature.

Ocular dirofilariasis is no longer a rare disease as more cases are being reported across the world and in India as awareness about this disease among health care professionals has increased. It is a helminthic infection which is caused by filarial parasite of the genus dirofilaria. It has a varied clinical presentation and the definitive diagnosis is based on microbiological and histopathological examination of the parasite.

Utility of multiplex real-time PCR for diagnosing paediatric acute respiratory tract infection in a tertiary care hospital.

Background: Acute respiratory infections (ARIs) are responsible for considerable morbidity and mortality among children all over the world. Many of the etiologic agents of the infections especially viral go undiagnosed for lack of requisite facility and the cost factors. We have used a commercially available platform for diagnosis of ARIs in children receiving inpatient and outpatient services in a tertiary care centre.

Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of .

Introduction: The accurate detection of breakpoint regions of disease-associated chromosomal rearrangements helps understand the molecular mechanisms and identify the risks involved with disrupted genes.

Methods: In this study, a girl with growth retardation is characterized using positional cloning and genome sequencing. The techniques include fluorescence in situ hybridization (FISH) with paint (WCP) and bacterial-artificial chromosomes (BAC) probes, PCR, real-time PCR, and short and long-read sequencing.

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.

Band like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a distinct neuroradiological phenotype initially reported as a pseudo-TORCH syndrome and known to result from biallelic mutations in the Occludin(OCLN) gene. This is report of a family of Indian origin with two affected sibs and segregation of a homozygous novel OCLN mutation in the exon 3(NG_028291.1(OCLN_v001):c.