SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via whole-exome sequencing, we studied a child that presented with cranial asymmetry, severe infantile spasms with hypsarrhythmia, and dysproportionate dwarfism. Analysis of transferrin glycosylation revealed severe dysglycosylation corresponding to a type II congenital disorder of glycosylation (CDG) and the blood manganese levels were below the detection limit. The variants c.112G>C (p.Gly38Arg) and c.1019T>A (p.Ile340Asn) were identified in SLC39A8. A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG. These data demonstrate that variants in SLC39A8 impair the function of manganese-dependent enzymes, most notably ß-1,4-galactosyltransferase, a Golgi enzyme essential for biosynthesis of the carbohydrate part of glycoproteins. Impaired galactosylation leads to a severe disorder with deformed skull, severe seizures, short limbs, profound psychomotor retardation, and hearing loss. Oral galactose supplementation is a treatment option and results in complete normalization of glycosylation. SLC39A8 deficiency links a trace element deficiency with inherited glycosylation disorders.

Dementia knowledge transfer project in a rural area.

INTRODUCTION: Rural Scotland has an ageing population. There has been an increase in the number of people with dementia and as the proportion of people aged over 75 years continues to rise, this will increase still further. The Scottish Government has produced a dementia strategy and implementing this will be a challenge for rural Scotland. METHODS: Transferring academic knowledge into practice is challenging. A Knowledge Transfer Partnership was formed between NHS Highland and the University of Stirling. A literature review was undertaken of the rural dementia literature; local services were surveyed and described; and interviews were undertaken with people with dementia and carers. Work was conducted on training, diagnostic service provision and local policy. Throughout the project, a collaborative approach was used, which aimed at the joint production of knowledge. RESULTS: Involving University staff in local service development had a substantial impact. Reviewing existing research knowledge and setting it in the context of local services, and of experience of service use, allowed the relevant priorities to be identified. As well as identifying training needs and providing training, the work influenced local decisions on diagnostic service design and standards, and on policy. CONCLUSION: This embedded engagement model appeared to produce more rapid change than traditional models of use of academic knowledge.

Malignant otitis externa with optic neuritis.

Malignant otitis externa is a serious condition that presents difficulties in treatment, and also in monitoring its progress. A case of malignant otitis externa with optic neuritis is presented that remained refractory to standard treatment but was cured by adjuvant hyperbaric oxygen therapy. This is the only reported case that has survived this disease with optic neuritis. The usefulness of imaging techniques in this condition is discussed, as well as the ESR, in evaluating the effectiveness of treatment.

Technique of tracheo-oesophageal puncture under local anaesthesia.

Various techniques for performing a secondary tracheo-oesophageal puncture to enable insertion of a speech prosthesis in laryngectomized patients have been described. We describe a modification that allows a safe secondary tracheo-oesophageal puncture under local anaesthesia using standard equipment available in an ENT department.