The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong.

INTRODUCTION: Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a 14-year-old boy who died of an undiagnosed IEM, the OPathPaed service model was proposed. In the present study, we investigated the feasibility of the OPathPaed model for delivering expanded newborn screening in Hong Kong. In addition, health care professionals were surveyed on their knowledge and opinions of newborn screening for IEM. METHODS: The present prospective study involving three regional hospitals was conducted in phases, from 1 October 2012 to 31 August 2014. The 10 steps of the OPathPaed model were evaluated: parental education, consent, sampling, sample dispatch, dried blood spot preparation and testing, reporting, recall and counselling, confirmation test, treatment and monitoring, and cost-benefit analysis. A fully automated online extraction system for dried blood spot analysis was also evaluated. A questionnaire was distributed to 430 health care professionals by convenience sampling. RESULTS: In total, 2440 neonates were recruited for newborn screening; no true-positive cases were found. Completed questionnaires were received from 210 respondents. Health care professionals supported implementation of an expanded newborn screening for IEM. In addition, there is a substantial need of more education for health care professionals. The majority of respondents supported implementing the expanded newborn screening for IEM immediately or within 3 years. CONCLUSION: The feasibility of OPathPaed model has been confirmed. It is significant and timely that when this pilot study was completed, a government-led initiative to study the feasibility of newborn screening for IEM in the public health care system on a larger scale was announced in the Hong Kong Special Administrative Region Chief Executive Policy Address of 2015.

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis.

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is an autosomal recessive disorder caused by a defect in ornithine translocase. This condition leads to variable clinical presentations, including episodic hyperammonaemia, hepatic derangement, and chronic neurological manifestations. Fewer than 100 affected patients have been reported worldwide. Here we report the first two cases in Hong Kong Chinese, who were compound heterozygous siblings for c.535C>T (p.Arg179*) and c.815C>T (p.Thr272Ile) in the SLC25A15 gene. When the mother refused prenatal diagnosis for the second pregnancy, urgent genetic testing provided the definitive diagnosis within 24 hours to enable specific treatment. Optimal management of these two patients relied on the concerted efforts of a multidisciplinary team and illustrates the importance of an expanded newborn screening service for early detection and treatment of inherited metabolic diseases.

Acute pain: combination treatments and how we measure their efficacy.

Perioperative analgesic strategies are frequently tested using analgesic consumption as an outcome measure. This outcome measure is intuitive and superficially attractive, but has not been evaluated rigorously. Flaws in its use may be one explanation of continuing controversies surrounding the efficacy of analgesic strategies tested by this method. We contend that the analgesic consumption outcome measure is valid only when treatment groups achieve similar pain scores. A meta-analysis of perioperative gabapentin was used to test this hypothesis. Eighteen trials were identified, which were of sufficient methodological quality to include in the analysis. Trials reporting similar pain scores in treatment groups were classified as Category A and dissimilar scores as Category B. There were seven Category A trials: four reported reduced analgesic consumption with gabapentin compared with placebo, at one or more time points, and three found no difference. There were 11 Category B trials, all of which reported a decrease in analgesic consumption with gabapentin compared with placebo, at one or more time points. Analgesic consumption after gabapentin was similar for different postoperative analgesics. Sedation, dizziness, and vomiting were significant problems in pooled analysis. Analysis according to similarity of pain scores did not clarify whether perioperative gabapentin is useful in perioperative care. More rigorous examination of analgesic consumption as an outcome measure is needed, to establish whether achieving similar pain scores is as important as this paper claims and to determine those features of the analgesic delivery system, adverse effects, and other factors which may interfere with analgesic consumption as an outcome measure.

Review of critical incidents in a university department of anaesthesia.

In 2011, our hospital started a new system of 100% procedural audit of anaesthesia work, in which we incorporated the reporting of critical incidents. This monitoring of critical incidents has enabled identification of the spectrum of incidents and risk factors and helped in the education of trainees and specialists. In this review, we analyse 379 incidents that had been reported among 44,915 anaesthetics administered in a two-year period. The risk of incidents was higher in patients of lower American Society of Anesthesiologists physical status, anaesthesia of long duration and anaesthesia carried out after-hours. The most common incidents were airway problems and drug administration problems. Fifty-nine percent of incidents were evaluated to be preventable and adverse outcomes occurred in 48% of cases. Human factors were the major contributors to incidents. We suggest that incorporating critical incident reporting as part of a 100% procedural audit facilitated, rather than discouraged, the reporting of critical incidents, even though reporting was not anonymous. The rate of incident reporting increased from 0.37% to 0.84%.

Peripheral nerve blocks for lower limb surgery--a choice anaesthetic technique for patients with a recent myocardial infarction?

Peripheral nerve blocks are associated with minimal haemodynamic disturbance. It is perhaps ideal for high-risk surgical patients who cannot tolerate the adverse consequences of even the slightest attenuation of haemodynamic response. However, peripheral nerve blockade is often perceived to be time consuming and undependable as the sole anaesthetic. In this report, a 56-year-old man with severe sepsis and recent myocardial infarction presents for an urgent above knee amputation. We present the practical benefits of a combined sciatic-femoral nerve block on such a patient.

D-2-Hydroxyglutaric aciduria and subdural haemorrhage.

UNLABELLED: D-2-Hydroxyglutaric aciduria (D-2-HG) is a rare metabolic disorder. First reported in 1980, it does not have any well-recognized presentation or specific treatment regimen. Neuroimaging findings are heterogeneous. Subdural haemorrhage has not been a feature of any of the reported cases. This report presents a boy with bilateral subdural haematoma in whom non-accidental injury was initially suspected and subsequent metabolic investigation led to a diagnosis of D-2-HG. CONCLUSION: In the management of childhood subdural haemorrhages, it is very important that potentially treatable metabolic disorders are detected and that parents are not wrongly accused of injuring their children.

Esophageal atresia and achalasialike esophageal dysmotility.

A 14-year-old boy presented with regurgitation, malnutrition, and chronic lung insufficiency with a history of successful repair of esophageal atresia and tracheoesophageal fistula in the newborn period. Barium swallow and manometry results showed achalasia. Hellar operation with antireflux procedure resulted in complete symptomatic relief. Histology and immunohistochemistry including PGP9.5, MAP5, cKit, and nNOS of myotomy specimen showed intact innervation. Although esophageal dysmotility after esophageal atresia repair usually is caused by gastroesophageal reflux and incoordination of peristalsis, the possibility of achalasia should also be considered, because a casual relationship between esophageal atresia and achalasia may exist.

First case of haemolytic disease of the newborn due to anti-Mur in Hong Kong.

The fifth child of a Hong Kong Chinese mother developed moderate jaundice, attributable to antibodies (anti-Mi) against antigenic determinants in GP.Mur (Miltenberger, class III) red cells. Both the father and the eldest sister were of the phenotype GP.Mur. Testing of maternal serum against a red cell panel including cells known to carry the antigenic determinants of some Miltenberger phenotypes revealed the presence of anti-Mur. This report documents the first case of haemolytic disease of the newborn (HDN) due to anti-Mur in Hong Kong.