Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia.

Making a diagnosis of transient non-ketotic hyperglycinaemia (tNKH) can be difficult. We report an infant who presented in the neonatal period with symptoms of NKH. Metabolic studies performed on day 2 of life showed raised cerebrospinal fluid (CSF) and plasma glycine, and a CSF:plasma glycine ratio consistent with NKH; however, a liver biopsy performed on day 5 revealed normal liver glycine cleavage system activity. Subsequently, the child's clinical condition improved in the absence of any therapeutic medication. Clinical assessment and developmental follow-up at 5 months, 1 year, and 2 years were age-appropriate. Guidance for the investigation and management of future suspected cases of tNKH is discussed.

Iatrogenic copper deficiency following information and drugs obtained over the Internet.

We report the case of a 56-year-old woman with a 7-year history of metastatic cancer who presented with severe copper deficiency following self-treatment with the copper-chelating agent tetrathiomolybdate. This compound was used with the aim of inhibiting tumour angiogenesis and was obtained from the USA by placing an order on the internet. The patient exhibited severe neutropenia as her serum copper concentration fell from 19.8 micromol/L to 3.3 micromol/L and her caeruloplasmin concentration from 35 mg/dL to 4 mg/dL.

Barcode identification for transfusion safety.

PURPOSE OF REVIEW: Errors related to blood transfusion in hospitals may produce catastrophic consequences. This review addresses potential solutions to prevent patient misidentification including the use of new technology, such as barcoding. RECENT FINDINGS: A small number of studies using new technology for the transfusion process in hospitals have shown promising results in preventing errors. The studies demonstrated improved transfusion safety and staff preference for new technology such as bedside handheld scanners to carry out pretransfusion bedside checking. They also highlighted the need for considerable efforts in the training of staff in the new procedures before their successful implementation. SUMMARY: Improvements in hospital transfusion safety are a top priority for transfusion medicine, and will depend on a combined approach including a better understanding of the causes of errors, a reduction in the complexity of routine procedures taking advantage of new technology, improved staff training, and regular monitoring of practice. The use of new technology to improve the safety of transfusion is very promising. Further development of the systems is needed to enable staff to carry out bedside transfusion procedures quickly and accurately, and to increase their functionality to justify the cost of their wider implementation.