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Biomedical subjects

A Rennie

Publications and source records attributed to A Rennie.

7 recordsLinked to original sources

Investigation of global developmental delay.

The investigation of global developmental delay in preschool children varies between centres and between paediatricians. Following a literature search and review of the evidence base, guidelines were developed to assist in the assessment and management of such children presenting to secondary level services. Evidence supporting the use of genetic and biochemical investigations on a screening basis was found, but there was no evidence to support the use of metabolic investigations or neuroimaging in the absence of other positive findings on history or examination. Detailed history and examination are paramount in the assessment of children with global developmental delay. Investigations can be a useful adjunct in determining aetiology. Evidence based guidelines have been developed to assist doctors in the selection of appropriate investigations for this group of children.

Child, Preschool↗

Kabuki syndrome: a case report.

This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought to be seen exclusively in the Japanese population.

Abnormalities, Multiple↗

Cutaneous manifestations of fucosidosis.

Angiokeratoma corporis diffusum (ACD) is still often thought to be synonymous with Anderson-Fabry disease, a deficiency of alpha-galactosidase. It is important, however, to consider other possible enzyme deficiencies in patients with ACD. We report an 8-year-old boy with neurodevelopmental delay who was diagnosed as having fucosidosis following recognition of ACD in the dermatology department. Other cutaneous features in this patient included distal transverse purple nail bands, acrocyanosis and a naevus anaemicus. Histology and electron microscopy of skin papules was consistent with angiokeratoma. Skeletal survey demonstrated dysostosis multiplex. The diagnosis was confirmed by leucocyte oligosaccharide enzyme analysis. There are only three previous reports of fucosidosis in the U.K.

Child↗

Specular reflection of neutrons at phospholipid monolayers. Changes of monolayer structure and headgroup hydration at the transition from the expanded to the condensed phase state.

The specular neutron reflection technique has been applied for the first time to study the structure and head group hydration of a phospholipid monolayer (dimyristoylphosphatidylcholine containing negatively charged phospholipids) in the condensed and expanded state. By variation of the contrast of the subphase to that of the air it is shown that at the transition from the condensed to the expanded state the carboxyl bonds of the glycerol backbone are hydrated leading to a strong structural change of the headgroup. The total monolayer thickness in the condensed state is 22.5 +/- 1 A (tilt angle 32 +/- 6 degrees) and decreases to 19.5 +/- 1 A in the expanded state. The mean molecular volume increases from 1190 +/- 50 A3 to 1250 +/- 50 A3.

Deuterium↗