Rapid DNA from a disaster victim identification perspective: Is it a game changer?

As an emerging technology, Rapid DNA has demonstrated its utility for law enforcement in the provision of DNA profiling data at the point of arrest, often not requiring analyst review of the profiles generated. Recently, efforts have centred on the evaluation of Rapid DNA (without analyst review) and modified Rapid DNA (requiring review by a trained analyst) for application to crime scene samples. In a broader forensic context, however, another application for Rapid DNA is its use to process post-mortem samples to assist with the identification of deceased persons; and while gaps in our knowledge remain as to how Rapid DNA instruments perform with these sample types (often compromised with regards to their yield and quality of DNA), they have been successfully deployed in the field to assist in the identification of disaster victims (as exemplified during the 2018 Californian wildfire). This review aims to provide the current research landscape for the forensic application of Rapid DNA as an emerging technology from a Disaster Victim Identification perspective.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

BACKGROUND: Microarray genome analysis is realising its promise for improving detection of genetic abnormalities in individuals with mental retardation and congenital abnormality. Copy number variations (CNVs) are now readily detectable using a variety of platforms and a major challenge is the distinction of pathogenic from ubiquitous, benign polymorphic CNVs. The aim of this study was to investigate replacement of time consuming, locus specific testing for specific microdeletion and microduplication syndromes with microarray analysis, which theoretically should detect all known syndromes with CNV aetiologies as well as new ones. METHODS: Genome wide copy number analysis was performed on 117 patients using Affymetrix 250K microarrays. RESULTS: 434 CNVs (195 losses and 239 gains) were found, including 18 pathogenic CNVs and 9 identified as "potentially pathogenic". Almost all pathogenic CNVs were larger than 500 kb, significantly larger than the median size of all CNVs detected. Segmental regions of loss of heterozygosity larger than 5 Mb were found in 5 patients. CONCLUSIONS: Genome microarray analysis has improved diagnostic success in this group of patients. Several examples of recently discovered "new syndromes" were found suggesting they are more common than previously suspected and collectively are likely to be a major cause of mental retardation. The findings have several implications for clinical practice. The study revealed the potential to make genetic diagnoses that were not evident in the clinical presentation, with implications for pretest counselling and the consent process. The importance of contributing novel CNVs to high quality databases for genotype-phenotype analysis and review of guidelines for selection of individuals for microarray analysis is emphasised.

Periocular cutaneous pigmentary changes associated with topical betaxolol.

PURPOSE: We report two cases of periocular cutaneous hypopigmentation and one case of hyperpigmentation which appeared while the patients were on betaxolol. We propose several possible explanations for this phenomenon. METHODS: Charts of three patients with glaucoma who developed periocular cutaneous pigmentary changes while on betaxolol were reviewed retrospectively. RESULTS: Case #1 was a 47-year-old black man with primary open angle glaucoma, started on betaxolol 0.5% in both eyes in January 1981. Bilateral hypopigmentation of the eyelids was first documented in October 1987. Betaxolol was discontinued in November 1987. In December 1990 the pigmentation had returned to normal. Case #2 was a 4-month-old white boy with unilateral primary infantile glaucoma who was started in September 1992 on betaxolol 0.25% in the left eye. Left lower eyelid hypopigmentation was seen in April 1993. Betaxolol was discontinued in July 1993. Since that time the pigmentation has returned to normal. Case #3 was a 75-year-old black man with primary open angle glaucoma. He was placed on betaxolol 0.5% in both eyes in 1987 and in March 1988 hyperpigmentation of the eyelids was seen bilaterally. Betaxolol was discontinued, and by December 1990 the pigmentation had returned to normal. CONCLUSION: These three case histories suggest that the periocular cutaneous changes described herein are secondary to local instillation of betaxolol.

Pathogenesis of ciliary-body cysts associated with multiple myeloma.

A case history is presented which illustrates the occurrence of ciliary-body cysts in association with multiple myeloma. Gross pathologic, light-microscopic, ultrastructural, and immunofluorescent characteristics of the cysts are presented, and the observed morphology used to postulate their pathogenesis.

Rapid decompression of anterior intracranial visual pathways with bromocriptine.

Bromocriptine mesylate (2-bromo-alpha-ergocryptine) has proved to be useful in reducing the size of prolactin-secreting pituitary adenomas, but little evidence has accumulated about its effectiveness within the first two weeks of therapy. The patient described herein showed a rapid reduction in the size of the suprasellar extension of a prolactinoma and a dramatic improvement of the primary visual field abnormalities within two weeks of starting bromocriptine therapy. This experience exemplifies the potential use of the drug in acutely decompressing the anterior intracranial visual pathways.