Objective: To develop a standard preparation for measurement of phenylalanine in blood spots in phenylketonuria against which manufacturers of kits for phenylalanine determination could calibrate their own blood spot calibrators.
Methods: As most of the variation of phenylalanine concentration in dried blood spots is due to the way the blood spot calibrators are prepared, a minimum set of prerequisites for the preparation of blood spot calibrators was established by a group of scientific experts and manufacturers. A "European working standard for phenylalanine in blood spots" (EWS-Phe-01) was prepared and distributed to manufacturers taking part in this project.
Results: The control of the homogeneity, linearity, and stability of the EWS-Phe-01 batch gave results within expected ranges. The preliminary results of the recalibration of calibrators for phenylalanine against EWS-Phe-01 by the participating manufacturers were promising; the differences between measurements were much decreased.
Conclusion: Manufacturers have agreed to use EWS-Phe-01, and since November 1996 EWS-Phe calibrators have been routinely available from these companies. This pilot study may act as a model for minimising discrepancies found in other screening tests.
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http://dx.doi.org/10.1136/jms.5.2.63 | DOI Listing |
Laryngoscope Investig Otolaryngol
February 2025
Background: The main technique for identification of free flap perforator vessels is Doppler sonography, which is not always accurate, user dependent and affected by the patient's body habitus.
Methods: Adult patients undergoing head and neck resection and free flap reconstruction at two academic institutions were enrolled. Doppler sonography was used to identify perforators, and were marked using a skin marker.
JAMA Pediatr
January 2025
Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
Importance: Detection of congenital cytomegalovirus (cCMV) infection has previously relied on targeted screening programs or clinical recognition; however, these approaches miss most cCMV-infected newborns and fail to identify those infants who are asymptomatic at birth but at risk for late-onset sensorineural hearing loss.
Objective: To determine the feasibility of using routinely collected newborn dried blood spots (DBS) in a population-based cCMV screen to identify infants at risk for hearing loss and describe outcomes of infants screened.
Design, Setting, And Participants: This diagnostic study of a population-based screening program in Ontario, Canada, took place from July 29, 2019, to July 31, 2023.
Cureus
December 2024
Internal Medicine, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, PRT.
Autoimmune polyglandular syndromes (APS) are characterized by associations of two or more autoimmune diseases (AID). APS type 3 is characterized by the presence of autoimmune thyroid disease associated with other AID, excluding adrenal gland involvement. Here we report a case of a 64-year-old male, with history of type 1 diabetes mellitus (T1DM), diagnosed at the age of 32, who was referred to a Diabetes consultation in 2014 due to poor metabolic control.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Faculty of Medicine, Nangarhar University, Nangarhar, Afghanistan.
Background: Central retinal vein occlusion and cilioretinal artery occlusion are rare but serious ocular conditions that can lead to significant visual impairment. While few cases of central retinal vein occlusion and cilioretinal artery occlusion have been individually reported, concurrent occlusion of both vessels is extremely rare, particularly in younger patients without traditional vascular risk factors. We present the first reported case of simultaneous central retinal vein occlusion and cilioretinal artery occlusion in a young female patient associated with short-term use of progestin-only oral contraceptives (OCPs).
View Article and Find Full Text PDFBMC Pediatr
January 2025
Liver Transplantation & Hepatopancreatobiliary Surgery Unit, Department of General Surgery, Istanbul Faculty of Medicine, Istanbul, Türkiye.
Background: Gastro-esophageal variceal hemorrhage (GEVH) is one of the major causes of life-threatening gastrointestinal bleeding in children. Medical, endoscopic, angiographic, and surgical interventions can be utilized in treatment. In this case report, we describe partial splenic artery embolization for refractory GEVH due to portal vein thrombosis.
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