Long-Term Efficacy of Shunt Therapy in Idiopathic Normal Pressure Hydrocephalus.

Background: Idiopathic normal pressure hydrocephalus (iNPH) is one of the very few treatable types of dementia. Shunt therapy has been shown to be effective in improving symptoms. However, the long-term results of cerebrospinal fluid diversion are variable.

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Background: Diagnostic testing for genetic cardiomyopathies has undergone dramatic changes in the last decade with next generation sequencing (NGS) expanding the number of genes that can be interrogated simultaneously. Exon resolution copy number analysis is increasingly incorporated into routine diagnostic testing via cytogenomic arrays and more recently via NGS. While NGS is an attractive option for laboratories that have no access to array platforms, its higher false positive rate requires weighing the added cost incurred by orthogonal confirmation against the magnitude of the increase in diagnostic yield.

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.

Pathogenic variants at the DFNB1 locus encompassing the GJB2 and GJB6 genes account for 50% of autosomal-recessive, congenital nonsyndromic hearing loss in the United States. Most cases are caused by sequence variants within the GJB2 gene, but a significant number of DFNB1 patients carry a large deletion (GJB6-D13S1830) in trans with a GJB2 variant. This deletion lies upstream of GJB2 and was shown to reduce GJB2 expression by disrupting unidentified regulatory elements.

Evaluation of laparoscopic performance with alteration in angle of vision.

Background And Purpose: Optimal placement allows intuitive laparoscope positioning between two working trocars (0 degrees angle). However, this configuration may require the assistant to operate in an awkward position. We evaluated the effect of alteration of laparoscope position on surgeon performance and correlated this with surgical experience.

Comparison of holding strength of suture anchors for hepatic and renal parenchyma.

Background And Purpose: Various laparoscopic devices have been described for suture anchoring during solidorgan parenchymal closure. Application of these devices expedites the closure of parenchymal defects and minimizes ischemia time. We compared different technologies as suture anchors for parenchymal closure.

The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.

Spinal muscular atrophy (SMA) is a relatively common, autosomal recessively inherited neurodegenerative disorder that maps to human chromosome 5q13. This region of the human genome has an intricate genomic structure that has complicated the evaluation of SMA candidate genes. We have chosen to study the mouse region syntenic for human SMA in the hope that the homologous mouse interval would contain the same genes as human 5q13 on a simpler genomic background.