ABSTRACT
Mutations of the tumor necrosis factor receptor 1 (TNFRSF1A) gene underly susceptibility to a subset of autosomal dominant recurrent fevers (ADRFs). We report on a two-generation six-member Dutch family in which a novel R92P mutation and reduced plasma TNFRSF1A levels were found in all the children, including two who are unaffected. However, only the daughter proband and father exhibited a typical TNF-receptor associated periodic syndrome (TRAPS) phenotype. PCR-RFLP analysis revealed that the mutation was not present in 120 control chromosomes from unaffected Dutch individuals. As this R92P mutation is present in two unaffected carriers it appears to be less penetrant than previously reported TNFRSF1A mutations involving cysteine residues in the extracellular domains.
Subject(s)
Antigens, CD/genetics , Fever of Unknown Origin/genetics , Receptors, Tumor Necrosis Factor/genetics , Antigens, CD/blood , DNA/chemistry , DNA/genetics , DNA Mutational Analysis , Family Health , Female , Fever of Unknown Origin/pathology , Humans , Male , Microsatellite Repeats , Mutation , Netherlands , Pedigree , Penetrance , Phenotype , Point Mutation , Polymorphism, Restriction Fragment Length , Receptors, Tumor Necrosis Factor/blood , Receptors, Tumor Necrosis Factor, Type IABSTRACT
The blood ordering practice in a general hospital was evaluated for 22 types of frequently scheduled elective surgical procedures. The following parameters were used: the C/T ratio (crossmatched/transfused ratio) for appraising the tendency to over-order in terms of frequency, the BOQ (blood ordering quotient) to establish whether the appropriate amount is ordered, and the transfusion probability to establish whether the risk accompanying the procedure warrants crossmatching blood. Using the results a list was compiled grouping the procedures as follows: 1. transfusion probability greater than 30%: type & screen and crossmatching of blood before the surgical procedure; 2. transfusion probability less than 30%: type & screen; 3. transfusion probability = 0%: no type & screen (remaining procedures). The number of units crossmatched for surgical procedures in the first group is in accordance with actual expected needs. Owing to the use of this list of expected haemotherapy requirements the number of patients for whom blood is crossmatched preoperatively has diminished from 76.5% to 29.8%. Furthermore, the C/T ratio has decreased from 3.33 to 1.45 with a practically unchanged transfusion probability (the mean for 22 types of surgical procedures). The number of crossmatches for these procedures has shown a 56% decrease. The use of the list of expected requirements has led to an annual saving of Dfl. 20,000-on laboratory expenses.
Subject(s)
Blood Banks/organization & administration , Blood Transfusion/standards , Public Policy , Blood Grouping and Crossmatching , Blood Transfusion/statistics & numerical data , Female , Health Services Misuse , Humans , Male , Surgery Department, Hospital/organization & administrationABSTRACT
Urinary cobalt was determined by flameless atomic absorption spectroscopy. Three methods were compared: direct analysis with deuterium background correction after 11-fold dilution with distilled water (method D), analysis with deuterium background correction after extraction of cobalt from the urinary matrix in organic solution (method E), and direct analysis with Zeeman background correction (method Z). The detection limit of the direct analysis of urinary cobalt with deuterium background correction was 6 micrograms/L, this appeared to be insufficient for the determination of reference values and moderate enlarged cobalt values. Comparison of the extraction method and the Zeeman method revealed that these methods have similar reference values, detection limits, precision and recovery.
Subject(s)
Cobalt/urine , Calibration , Deuterium , Environmental Exposure , Humans , Reference Values , Solutions , Spectrophotometry, Atomic/methodsABSTRACT
Aluminium in human tissues has been determined by flameless atomic absorption spectroscopy (AAS). Tissues were dried at 110 degrees C and digested with concentrated nitric acid at 50 degrees C overnight. After dilution with distilled water the samples were measured. The aluminium levels of the controls (healthy individuals who died as a result of an accident) appeared to be: grey matter 2.1 +/- 1.0 (mean +/- SD), white matter 1.7 +/- 0.5, spinal cord, 3.3 +/- 1.5, kidney 1.9 +/- 0.7, heart 2.1 +/- 1.1, vertebral cortex 1.9 +/- 1.8, and vertebral trabeculae 3.1 +/- 1.8 micrograms/g dry weight. For a patient with dialysis motor neuropathy significantly higher values were found. Comparison with values in the literature shows that our reference values are in agreement with published results obtained by flameless atomic absorption spectroscopy.
Subject(s)
Aluminum/analysis , Aged , Brain Chemistry , Female , Humans , Kidney/analysis , Male , Middle Aged , Motor Neurons/metabolism , Myocardium/analysis , Neuromuscular Diseases/metabolism , Reference Standards , Spectrophotometry, Atomic/methods , Spinal Cord/analysis , Tissue DistributionABSTRACT
The hydroxyproline/creatinine ratio for two groups of healthy individuals and two groups of patients with a history of mammary and prostatic carcinoma without metastases was measured and compared with literature values. The hydroxyproline/creatinine ratio for healthy adults appears to be 1.4 (range 0.7--2.3). Furthermore, the influence of diet and gelatin load of 30 g on the hydroxyproline creatinine ratio and the hydroxyproline excretion has been investigated. The analytical characteristics of the test used in the present study were evaluated using the method of standard additions. An intra-assay quality-control on the basis of the standard addition is proposed. The coefficient of variation of the hydroxyproline/creatinine ratio appears to be 22%. The intraindividual variability has also been established for the hydroxyproline/creatinine ratio and appears to be 25%.
