The New South Wales state-wide newborn screening programme has offered comprehensive screening for inborn errors of metabolism, including MSUD, using electrospray tandem mass spectrometry since 1998. Over this period, a number of patients with classic MSUD have been identified with subsequent good neurological outcome. We describe two patients with an intermediate form of MSUD who presented later in childhood. Retrospective review of their newborn screening results demonstrates that the diagnosis could not have been made by current newborn screening. Their neurological outcome is much less satisfactory. Despite the usefulness of expanded newborn screening programmes in detecting severe neonatal presentations of inborn errors of metabolism, partial enzyme deficiencies may not be detected. Metabolic diseases still need to be considered in appropriate clinical situations later in life.
Background: The clinical significance of a trace protein reading on urinalysis is unclear, and such a result is often ignored by the clinician. Methods: We examined 185 samples of urine with trace proteinuria by both Chemstrips and sulfosalicylic acid testing, and compared the results with those of urinary albumin and total protein concentrations. Results: Taking for the purposes of this study an arbitrary upper limit of normal of 20 mg/l for albumin and 100 mg/l for total protein concentration, we found abnormal albumin excretion in 87% and abnormal total protein excretion in 88% of trace samples. In this study, a negative urinalysis for protein excluded microalbuminuria in 87% and proteinuria in 78% of cases. Conclusion: Qualitative testing for protein by urinalysis has a high sensitivity and specificity for diagnosing or ruling out microalbuminuria. Trace proteinuria usually means microalbuminuria; negative proteinuria tends to rule it out.
to have questions answered immediately. The web based programme was reported to be easily accessible and offered the flexibility for the nurses to be able to work at their own pace and go back over topics compared to the workshop. The workshop format carried rostering problems in that it was difficult to release a number of nurses away from the ward at once to attend. The web based system had no rostering difficulties as the individual nurse was at work and could easily access the programme when it suited. Conclusions: As the two educational approaches were equally effective in improving chest drainage knowledge; the differentiator between the two approaches concerns matters of convenience. In this regard, the problems with taking staff off-line for group workshops is a major drawback. Web based education is a viable alternative for staff education in a busy hospital.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.