ABSTRACT
Abstract Elevation of branched-chain amino acids (BCAAs) in biological fluids indicates a deficiency in the branched-chain ketoacid dehydrogenase complex, which causes maple syrup urine disease (MSUD). Detection of increased levels of alloisoleucine confirms the diagnosis, while routine monitoring of leucine concentration is crucial for preventing metabolic decompensation and neurological dysfunction. In the metabolic center at Universidad de Chile, we have confirmed and monitored more than fifty MSUD patients in the last 20 years. Most diagnoses were made by clinical and sibling diagnosis, as MSUD is not included in the Chilean national newborn screening program. Shortening diagnosis time has a fundamental impact on the outcome of patients, therefore we focused on implementing detection of BCAAs in dried blood spot by liquid chromatography mass spectrometry (LC-MSMS) for disease confirmation as well as for biochemical monitoring. Retrospective analysis of samples from 9 diagnosed MSUD patients were performed; BCAAs values were determined via MSMS and LC-MSMS conducted in parallel. Leucine and alloisoleucine levels were positively correlated with patient's diagnosis age. Alloisoleucine was significatively elevated as early as 24 hr after birth. A predictable variation in BCAAs levels after nutritional intervention among diagnosed MSUD patients was found.
ABSTRACT
Abstract Advances in mass spectrometry have allowed for expansion of newborn screening test panels over the last decade but with increased numbers of disorders have come increased concerns with false-positive rates. The introduction of second-tier testing has improved the specificity of screening for a number of disorders without any corresponding sacrifice in sensitivity. Such testing does, however, put pressure on scarce laboratory resources including instrument and personnel time and even the bloodspot sample itself. The British Columbia Newborn Screening Program has developed an integrated second-tier screening approach to improve test performance without the requirement to resample and reprocess the original bloodspot specimen. By utilizing the residual extract from the first-tier assay and introducing a chromatography step as the second tier, we have been able to reduce false-positive rates due to interfering isobaric compounds for 3 different disorders (maple syrup urine disease, isovaleric aciduria, and guanidinoacetate methyltransferase) in a single multianalyte assay.
ABSTRACT
Abstract The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm. We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm. The first 3 neonates were immediately recalled for confirmatory tests and resulted negative for both isovaleric acidemia and short/branched chain acyl-CoA dehydrogenase deficiency. In the other 9 cases, the immediate recall was avoided by applying a new second-tier test able to confirm the presence of pivaloylcarnitine. The concentration of C5-acylcarnitine was measured in the days following the suspension of balm application. Abnormal concentrations of C5-acylcarnitine did not seem to be associated with free carnitine deficiency, probably due to the short time of exposure. A direct correlation between balm ingestion and the elevation in pivaloylcarnitine has been demonstrated in 10 adult volunteers. The commercial balm containing a pivalic acid derivative is causal of false-positive results during newborn screening, and it could have the potential to cause secondary carnitine deficiency when used chronically.
ABSTRACT
Objective To find out universal problems in restructuring and explore relevant methodologies so as to provide the government with decision-making basis. Methods The method of partial quantification from statistics and operational research and the qualitative method from sociology were employed. Results Hospitals A and B assumed the functions of a second-tier hospital and satisfied the basic medical needs of District Z. With Hospital A being superior to Hospital B and inpatient service superior to outpatient service, the obstruction to the restructuring lay in the staffs of the two hospitals. If the restructuring should turn out to be successful, there would be more space for the expansion of their share of the medical market. The focus of the restructuring should be put on the advancement of technologies and the improvement of quality and efficiency. In particular, the basic medical needs of the residents in the areas concerned must be met. Conclusion In restructuring two hospitals, the model of loose cooperation and steady combination is recommended in the first place while the government ought to play the role of providing guidance, coordination and policy support.
ABSTRACT
In light of the objective circumstances and its subjective conditions, our hospital, a grade A, second tier urban general hospital, made the right choice of reorienting itself towards community health service after making a careful assessment of the current situation. In the course of the reorientation, our hospital mainly focused on such tasks as change of concepts, readjustment of its structure and functions, establishment of the service mode of the family physician, delivery of the "six in one" service in the form of a team, and implementation of standard management. Such efforts proved to be fruitful and won the approval of the community. On the basis of this, our hospital tried hard to exploit to the full its favorable conditions as a second tier hospital in providing community health service and called for attention and solution to such issues as the pricing system, the fundraising and compensation mechanism, cost accounting, and reform of the personnel system in the delivery of community health service.
ABSTRACT
The paper analyzes the current situation of domestic second-tier hospitals from such perspectives as the allocation of nursing human resources, professional titles, the time needed to complete nursing tasks, and the actual number of nurse hours. It puts forward suggestions on the appropriate size and work load of the nursing force in domestic second-tier hospitals in the hope of providing empirical basis for revising the size of the nursing force in such hospitals.