Defining the Newborn Blood Spot Screening Reference Interval for TSH: Impact of Ethnicity.

Context: There is variability in the congenital hypothyroidism (CH) newborn screening TSH cutoff across the United Kingdom.

Objective: To determine the influences of year, gender, and ethnicity on screening variability and examine whether there is an optimal operational TSH cutoff.

Design And Setting: Single center, retrospective population study using blood spot TSH cards received by the Great Ormond Street Hospital Screening Laboratory between 2006 and 2012.

Post-mortem interval and bacteriological culture yield in sudden unexpected death in infancy (SUDI).

It has been hypothesised that post-mortem translocation, the migration of micro-organisms from mucosal surfaces into the body after death, leads to microbial overgrowth in post-mortem samples, which is more frequently polymicrobial and which would be detected more frequently with increased post-mortem interval (PMI) from death to autopsy. This study aimed to evaluate the association between PMI and bacteriological yield in post-mortem examinations of sudden unexpected deaths in infancy (SUDI). A retrospective review of all microbiological findings from >500 SUDI autopsies (7-365 days of age) was performed as part of a larger review of >1500 paediatric autopsies over a 10-year period, 1996-2005.

Sudden unexpected neonatal death in the first week of life: autopsy findings from a specialist centre.

Objective: Sudden unexpected early neonatal death (SUEND) in the first week of life shares features with sudden unexpected death in infancy (SUDI) but is not included as SUDI, which is limited to post-perinatal deaths. The aim of this study was to review SUEND autopsies performed in a single specialist centre over a 10-year period, (1996-2005).

Methods: Retrospective analysis of >1500 consecutively performed paediatric autopsies performed by paediatric pathologists at one centre conducted according to a standard protocol including ancillary investigations.

Diagnosis of neuronal ceroid lipofuscinosis (Batten disease) by electron microscopy in peripheral blood specimens.

Neuronal ceroid lipopofuscinosis (Batten disease, NCL) represents a group of common childhood neurodegenerative diseases with a shared feature of deposition of abnormal metabolic products in neurons and other tissues, including peripheral blood lymphocytes. In most forms of NCL no specific enzyme defect is known and the diagnosis relies primarily on ultrastructural identification of characteristic membrane-bound inclusions containing the abnormal metabolic product. All buffy-coat specimens examined during a 7-year period (1997-2004) for the exclusion or confirmation of the diagnosis NCL were reviewed.

Dermal uptake of solvents from the vapour phase: an experimental study in humans.

The control of exposure to hazardous substances in the workplace has traditionally focused on uptake via the inhalation route. Control of skin uptake has generally been considered for solids and liquids but the potential for uptake from vapours and gases has received relatively little attention. The current work was undertaken to establish a methodology to study the dermal uptake from vapours and to provide new and comparative information on a range of substance vapours.