Biomedical subjects

Leigh B Thorne

Publications and source records attributed to Leigh B Thorne.

3 recordsLinked to original sources

PubMed2006

Diagnosis of human congenital cytomegalovirus infection by amplification of viral DNA from dried blood spots on perinatal cards.

Congenital human cytomegalovirus (HCMV) infection affects 1% of children and is the most common infectious cause of sensorineural hearing loss. Due to the difficulty of diagnosing deafness and other neurological disorders in infants, affected individuals may not be recognized until much later when active infection has resolved and culture is no longer informative. To overcome this problem, congenital HCMV infection was diagnosed retrospectively by testing residual blood samples collected from newborns and dried on perinatal cards as part of the North Carolina Newborn Screening Program. We modified the Qiagen method for purifying DNA from dried blood spots to increase the sample size and recovery of the lysate. A multiplex, real-time TaqMan polymerase chain reaction assay on an ABI 7900 instrument measured a highly conserved segment of the HCMV polymerase gene and the APOB human control gene. HCMV DNA was detected in blood dried on perinatal cards from all seven infants with culture-proven congenital infection, and all 24 negative control cases lacked detectable HCMV DNA. Our findings suggest that it is possible to diagnose congenital HCMV infection using dried blood collected up to 20 months earlier. Further studies are warranted on patients with hearing loss or other neurological deficits to determine the percentage that is attributable to congenital HCMV infection.

Cytomegalovirus↗

PubMed2005

Real-time PCR measures Epstein-Barr Virus DNA in archival breast adenocarcinomas.

The role of Epstein-Barr Virus (EBV) in breast cancer pathogenesis remains controversial. Fifty-five cases of paraffin-embedded, formalin-fixed invasive breast cancer were screened for the presence of EBV using quantitative polymerase chain reaction (PCR) directed at five different targets within the EBV genome (BamH1W, LMP1, EBNA1, LMP2, and BZLF1 regions). In four tumors (7%), low level EBV DNA was detected by at least one of the assays, with levels of up to 11 copies of EBV DNA per 100,000 cells. Immunohistochemisty for viral BMRF1 and BZLF1 and in situ hybridization for lytic gene transcripts showed no evidence of replicative EBV gene expression. Lymphocytes and malignant cells were also negative for latent infection by EBER in situ hybridization. Laser capture microdissection followed by quantitative real-time PCR was not useful in localizing EBV DNA to malignant cells or bystander lymphocytes. In conclusion, EBV DNA is detectable in a fraction of breast cancer specimens using real-time PCR as a screening tool, albeit at quite low levels, which suggests that only rare cells are infected. The low levels probably confounded our ability to localize the virus to particular cell types or to characterize viral gene expression.

Adenocarcinoma↗

PubMed2002

Suicide by blunt force trauma.

Suicide by self-inflicted blunt force injury is rare. The authors report a case of a 48-year-old man who initially appeared to have died of a homicidal beating. The pertinent autopsy findings consisted of blunt force closed head injury combined with numerous cutaneous abrasions and contusions of the entire body. Further inquiries confirmed a medical history of paranoid schizophrenia and a previous attempt at suicide. This case represents an extreme example of severe blunt trauma sustained during fatal self-mutilation and masquerading as a homicide. It also underscores the importance of correlating a thorough background investigation with autopsy findings in determining the appropriate manner of death.

Head Injuries, Closed↗