Cystinuria is a hereditary disorder manifested by the development of kidney stones. Three subtypes of the disease have been described, based on urinary excretion of cystine and the dibasic amino acids in heterozygotes, and oral loading tests in homozygotes. Cystinuria is very common among Libyan Jews living in Israel. Recently, we mapped the disease-causing gene in Libyan Jews to 19q, and have shown a very strong founder effect. In this report we present the results of biochemical and clinical studies performed on Libyan Jewish cystinuria patients and members of their families. High levels of cystine and the dibasic amino acids in heterozygotes support previous data that cystinuria in Libyan Jews is a non-type I disease. Oral loading tests performed with lysine showed some degree of intestinal absorption, but less than in normal controls. Previous criteria for determining the disease type, based solely on urinary amino acid levels, proved useless due to a very wide range of cystine and the dibasic amino acids excreted by the heterozygotes. Urinary cystine levels were useful in distinguishing between unaffected relatives and heterozygotes, but were unhelpful in differentiating between heterozygotes and homozygotes. Urinary levels of ornithine or arginine, and the sum of urinary cystine and the dibasic amino acids, could distinguish between the last two groups. Among stone formers, 90% were homozygotes and 10% were heterozygotes; 15% of the homozygotes were asymptomatic.
Cystinuria is a hereditary disorder manifested by the development of kidney stones. Three subtypes of the disease have been described, based on urinary excretion of cystine and the dibasic amino acids in heterozygotes, and oral loading tests in homozygotes. Cystinuria is very common among Libyan Jews living in Israel. Recently, we mapped the disease-causing gene in Libyan Jews to 19q, and have shown a very strong founder effect. In this report we present the results of biochemical and clinical studies performed on Libyan Jewish cystinuria patients and members of their families. High levels of cystine and the dibasic amino acids in heterozygotes support previous data that cystinuria in Libyan Jews is a non-type I disease. Oral loading tests performed with lysine showed some degree of intestinal absorption, but less than in normal controls. Previous criteria for determining the disease type, based solely on urinary amino acid levels, proved useless due to a very wide range of cystine and the dibasic amino acids excreted by the heterozygotes. Urinary cystine levels were useful in distinguishing between unaffected relatives and heterozygotes, but were unhelpful in differentiating between heterozygotes and homozygotes. Urinary levels of ornithine or arginine, and the sum of urinary cystine and the dibasic amino acids, could distinguish between the last two groups. Among stone formers, 90% were homozygotes and 10% were heterozygotes; 15% of the homozygotes were asymptomatic.
Background: Major surgery and severe trauma typically lead to massive blood loss requiring rapid transfusion of large amounts of blood products. It has been suggested that fresh, unrefrigerated whole blood provides a haemostatic advantage in this setting. The aim of the current study was to compare the clot formation parameters of fresh, unrefrigerated whole blood and whole blood reconstituted from components stored for varying periods of time, using rotational thromboelastography (ROTEM®). Methods: Fresh whole blood and reconstituted whole blood using combinations of nonleucoreduced red cell units (stored for 7, 14, 21, 28, or 35 days), platelet concentrates (stored for 1, 3 or 5 days), and fresh frozen plasma (stored for 6 months) were analysed using ROTEM. Measurements of the clotting time (CT), clot formation time (CFT), and maximal clot firmness (MCF) were compared between units of fresh whole blood and reconstituted whole blood samples. Results: There was no difference in the haemostatic parameters measured of fresh whole blood and reconstituted whole blood using red cell units stored for less than 21 days. ROTEM demonstrated that the CT and CFT were significantly shorter for reconstituted whole blood samples using red cells stored for longer than 21 days when compared to fresh whole blood and to reconstituted whole blood samples using red cell units stored for less than 21 days. The CT was inversely correlated to the duration of platelet storage. The MCF was unchanged regardless of duration of blood product storage. Conclusion: Fresh unrefrigerated whole blood and blood products stored for short duration (less than 21 days) were not superior to those stored for longer durations.
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.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.