scholarly journals Screening for patients with Gaucher’s disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study

2021 ◽  
Author(s):  
Tim Reynolds ◽  
Anthony Wierzbicki ◽  
Volha Skrahina ◽  
Christian Beetz
Keyword(s):  
Alkaline Phosphatase ◽  
Gaucher Disease ◽  
Clinical Biochemistry ◽  
Mean Value ◽  
Time Interval ◽  
Pathogenic Variants ◽  
Gba Gene ◽  
The Mean ◽  
Laboratory Biomarkers

Aims: Lysosomal β-glucocerebrosidase (GBA) deficiency causes Gaucher disease (GD), a recessive disorder caused by bi-allelic mutations in GBA. The prevalence of GD is associated with ethnicity, but largely unknown and potentially underestimated in many countries. GD may manifest with organomegaly, bone involvement and neurological symptoms as well as abnormal laboratory biomarkers. This study attempted to screen for GD in patients using abnormal platelet, alkaline phosphatase (ALP) and ferritin results from laboratory databases. Methods: Electronic laboratory databases were interrogated using a 2-4 year time interval to identify from clinical biochemistry records patients with a phenotype of reduced platelets (<150x109/L) and either elevated ALP (>130iu/L) or ferritin (>150 (female) or >250µg/L(male)). The mean value over the screening window was used to reduce variability in results. A dried blood spot sample was collected for the determination of GBA activity in patients meeting these criteria. If low GBA activity was found then the concentration of the GD-specific biomarker glucosyl-sphingosine (lyso-GB1) was assayed, and the GBA gene sequenced. Results: Samples were obtained from 1058 patients; 232 patients had low GBA activity triggering further analysis. No new cases of GD with homozygosity for pathogenic variants were identified but 12 patients (1%) were identified to be carriers of a pathogenic variant in GBA. Conclusions: Pathology databases hold routine information that can be used to screen for patients with inherited errors of metabolism. However, biochemical screening using mean platelets, ALP and ferritin has a low yield for unidentified cases of Gaucher Disease.

Detection of Circulating Tissue Factor and Factor VII in a Normal Population

1996 ◽  
Vol 75 (05) ◽  
pp. 772-777 ◽  
Author(s):  
Sybille Albrecht ◽  
Matthias Kotzsch ◽  
Gabriele Siegert ◽  
Thomas Luther ◽  
Heinz Großmann ◽  
...  
Keyword(s):  
Tissue Factor ◽  
Normal Population ◽  
Mean Value ◽  
Factor Vii ◽  
Significant Difference ◽  
Age Dependent ◽  
The Mean ◽  
Highly Correlated ◽  
And Gender

SummaryThe plasma tissue factor (TF) concentration was correlated to factor VII concentration (FVIIag) and factor VII activity (FVIIc) in 498 healthy volunteers ranging in age from 17 to 64 years. Immunoassays using monoclonal antibodies (mAbs) were developed for the determination of TF and FVIIag in plasma. The mAbs and the test systems were characterized. The mean value of the TF concentration was 172 ± 135 pg/ml. TF showed no age- and gender-related differences. For the total population, FVIIc, determined by a clotting test, was 110 ± 15% and the factor VIlag was 0.77 ± 0.19 μg/ml. FVII activity was significantly increased with age, whereas the concentration demonstrated no correlation to age in this population. FVII concentration is highly correlated with the activity as measured by clotting assay using rabbit thromboplastin. The ratio between FVIIc and FVIIag was not age-dependent, but demonstrated a significant difference between men and women. Between TF and FVII we could not detect a correlation.

Determination of Plasminogen in Clots and Thrombi

1966 ◽  
Vol 16 (01/02) ◽  
pp. 038-050 ◽  
Author(s):  
Ulla Hedner ◽  
Inga Marie Nilsson ◽  
B Robertson
Keyword(s):  
Mean Value ◽  
Main Mechanism ◽  
Clot Lysis ◽  
Post Mortem ◽  
Digestion Time ◽  
Normal Volunteers ◽  
Casein Solution ◽  
The Mean

SummaryThe plasminogen content was determined by a casein method in plasma and serum from 20 normal volunteers. The mean plasminogen content was found to be 10.1 ACU (the arbitrary caseinolytic unit defined in such a way that using a 3% casein solution and a digestion time of 20 min. at 37°C, 10 ACU gave an extinction of 0.300). No difference between serum and plasma regarding the plasminogen content was found.Plasminogen was determined in drained and drained plus washed clots prepared from 2 ml plasma. The highest values found in the drained clots were 0.9 ACU/clot and 0.2 ACU/clot in the drained plus washed clots.Plasminogen was also determined in drained and drained plus washed clots prepared from plasma with added purified plasminogen. The plasminogen was recovered in the washing fluid. According to these tests, then, purified added plasminogen is washed out of the clots.The plasminogen content of 20 thrombi obtained post mortem was also determined. The mean value was found to be 0.7 ACU/cm thrombus. Judging from our results, the “intrinsic clot lysis theory” is not the main mechanism of clot dissolution.

Determination of the Probability Distribution of the Mean Sound Level

2010 ◽  
Vol 35 (4) ◽  
pp. 543-550 ◽  
Author(s):  
Wojciech Batko ◽  
Bartosz Przysucha
Keyword(s):  
Probability Distribution ◽  
Probability Distribution Function ◽  
Mean Value ◽  
Sound Level ◽  
Function Form ◽  
Noise Levels ◽  
Logarithmic Mean ◽  
The Mean ◽  
Estimation Of Uncertainty

AbstractAssessment of several noise indicators are determined by the logarithmic mean <img src="/fulltext-image.asp?format=htmlnonpaginated&src=P42524002G141TV8_html\05_paper.gif" alt=""/>, from the sum of independent random resultsL1;L2; : : : ;Lnof the sound level, being under testing. The estimation of uncertainty of such averaging requires knowledge of probability distribution of the function form of their calculations. The developed solution, leading to the recurrent determination of the probability distribution function for the estimation of the mean value of noise levels and its variance, is shown in this paper.

ENZYMATISCH-FLUOROMETRISCHE BESTIMMUNG DER CORTISOLBINDUNGSKAPAZITÄT DES PLASMA

1967 ◽  
Vol 56 (1) ◽  
pp. 99-106 ◽  
Author(s):  
K. Leybold ◽  
J. Rieper ◽  
L. Weissbecker
Keyword(s):  
Binding Capacity ◽  
Liver Microsomes ◽  
Mean Value ◽  
Female Rats ◽  
Plasma Samples ◽  
Simple Method ◽  
Adult Men ◽  
The Mean ◽  
Precision And Accuracy

ABSTRACT A simple method for the determination of cortisol-binding capacity is described. For saturation of the cortisol-binding proteins, plasma samples are incubated with an excess of cortisol. In the next step NADPH and liver microsomes of female rats are added. The microsomal Δ4-3-ketosteroid hydrogenase only reduces non protein-bound cortisol to tetrahydrocortisol-5α. Then the steroids are extracted by dichloromethane, and after some purification steps analyzed by fluorometry. Tetrahydrocortisol gives practically no fluorescence. The cortisol determined by this method corresponds to protein-bound cortisol and indicates the extent of cortisolbinding capacity. Precision and accuracy of the method were found to be good. The values of cortisol-binding capacity obtained by our method are compared with the results of other authors. The mean value of adult men was 25.5 ± 3.4 μg/100 ml, that of pregnant women, mens IX-X, 42.3 ± 4.2 μg/100 ml.

scholarly journals Transrenal passage of nitrates and nitrites in calves (short communication)

1999 ◽  
Vol 42 (3) ◽  
pp. 235-240
Author(s):  
A. Jacková ◽  
P. Siklenka ◽  
J. Pleva
Keyword(s):  
Short Communication ◽  
Clinical Signs ◽  
Potassium Nitrate ◽  
Mean Value ◽  
Significant Elevation ◽  
Total Hemoglobin ◽  
The Mean ◽  
Nitrate And Nitrite ◽  
Nitrite Content

Abstract. In a study with 12 calves on milk nutrition, the course of methemoglobinemia as well as ttansrenal passage of nitrates and nitrites after single per os administrations of 4 g NaNO2 per animal and 30 g KNO3 per animal in the form of water Solutions has been observed. The response of the organism of calves to per os administered doses of sodium nitrite and potassium nitrate was observed by the determination of tlie methemoglobin percentage in blood and the nitrate and nitrite content in urine before the administration ofthe respective dose and after h 1, 2, 3 and 4 after the administration. A significant elevation in the values of methemoglobin was recorded after h 2 after the administration of 4g NaNO3 per animal. The mean value of methemoglobin in blood was 18.84% of total hemoglobin. A slight decline in the values occurred as early as after h 3 after the administration. Of clinical signs, cyanosis of visible mucosae was observed. The highest nitrite and nitrate values in urine were determined after h 2 after per os administration of 4g NaNO2, With the administration of 30g KNO3 per animal, the most pronounced elevation in methemoglobinemia was observed after h 3, when the means values of methemoglobin was 11,75%. Of clinical signs, only slight cyanosis of mucosae was detectable. Maximum values of nitrates in urine of experimental calves after h 3 after the administration of 30 g KNO3 per animal, with the mean value of 29,9 mM NO3−1 clearly demonstrate a good transrenal passage of nitrates in calves on milk nutrition.

Determination of high-density lipoprotein phospholipids in serum.

1980 ◽  
Vol 26 (9) ◽  
pp. 1275-1277 ◽  
Author(s):  
Y Yamaguchi
Keyword(s):  
High Density Lipoprotein ◽  
Density Lipoprotein ◽  
Mean Value ◽  
High Density ◽  
High Density Lipoproteins ◽  
Low Density ◽  
Very Low Density Lipoproteins ◽  
Color Development ◽  
The Mean

Abstract I describe a method for measuring high-density lipoprotein phospholipids. Magnesium chloride and dextran sulfate are used to precipitate all low-density and very-low-density lipoproteins. The supernate contains only high-density lipoproteins, the phospholipid concentration of which is determined by an enzymic method. The precision of the method (CV) is 2.35% (10 repeated assays), and the mean value for HDL-phospholipids was 1006 (SD 248) mg/L for 30 apparently healthy subjects. I used electrophoresis and enzymic color development to confirm the presence of HDL-phospholipids. Results are compared with those obtained by an ultracentrifugation method.

Determination of oxygenated, mixed venous blood CO2 tension by a breath-holding method

1960 ◽  
Vol 15 (2) ◽  
pp. 225-228 ◽  
Author(s):  
John H. Knowles ◽  
William Newman ◽  
Wallace O. Fenn
Keyword(s):  
Venous Blood ◽  
Mean Value ◽  
Rate Of Change ◽  
Breath Holding ◽  
Mixed Venous Blood ◽  
Clinical Method ◽  
Straight Line ◽  
Zero Rate ◽  
The Mean

At the end of a normal expiration the subject inhaled a given volume of gas mixtures containing different concentrations of CO2 in O2 from 5 to 17%. These were held in the lung for 3 and then again for 12 seconds and were then expired and analyzed. Analyses were made with an infrared analyzer and times were obtained from the graphical record. If the rate of change of CO2 tension is plotted against the mean CO2 tension a straight line results which passes through zero rate at the tension which equals the tension of CO2 in the mixed oxygenated venous blood. From the slope of this straight line it is possible to calculate the cardiac output if the lung volume and slope of the CO2 dissociation curve of the blood are known. Data are presented from 37 experiments on 10 subjects. The method is believed to be theoretically sound but has not been validated as a practical clinical method. Occasional erratic points were obtained, especially in untrained subjects. The standard error of the mean value for venous CO2 tension was 1.9 mm Hg. Submitted on July 13, 1959

Initiation of each avian inspiration by a CO2 threshold mechanism

1979 ◽  
Vol 47 (1) ◽  
pp. 233-239 ◽  
Author(s):  
D. A. Miller ◽  
A. L. Kunz
Keyword(s):  
Threshold Model ◽  
Co2 Concentration ◽  
Threshold Level ◽  
Mean Value ◽  
Wave Form ◽  
Time Interval ◽  
Threshold Mechanism ◽  
The Mean ◽  
The Relationship ◽  
Respiratory Movements

The avian respiratory oscillator has been investigated in a unidirectionally ventilated chicken by changing the dynamic pattern of inflow CO2 concentration (FCO2). Stimulation with periodic FCO2 results in a one-to-one synchronization of the respiratory movements that we have called pacing (Respir. Physiol. 22: 167--177, 1974). A two-parameter CO2 threshold model is proposed to explain this behavior. The model states that when FCO2 reaches a threshold level (L), it initiates the beginning of inspiration a constant time interval (LB) later. According to this model, when a triangular FCO2 concentration is used to synchronize the breathing pattern, the time from the minimum of the wave form to the beginning of inspiration (C-B interval) is dependent on the mean value and the rate of rise of FCO2 as determined by period and amplitude of the triangle. Particularly interesting is the prediction that the direction of the relationship (increasing or decreasing) between FCO2 amplitude and the C-B interval is dependent on whether the mean value of FCO2 is above or below the threshold level. Experimental data obtained during amplitude changes support the above prediction.

Determination Of Malondialdehyde In Normal And Diabetic Pregnancies

1981 ◽  
Author(s):  
I Rákóczi ◽  
Gy Geró ◽  
J Demeter ◽  
I Gáti
Keyword(s):  
Pregnant Women ◽  
Mean Value ◽  
Diabetic Pregnancy ◽  
Diabetic Patients ◽  
Third Trimester ◽  
The Mean ◽  
Platelet Hyperaggregation ◽  
Induced Aggregation ◽  
Increased Activity

It is known that platelet hyperaggregation observed in diabetic patients is, at least in part, due to an increased activity of the endoperoxide-thromboxane forming metabolic pathway. It was interesting to determine the platelet malondialdehyde /MDA/ production in normal and diabetic pregnancies. Following individuals have been studied: /I/ twenty-five healthy non-pregnant volunteers; /II/ thirty women in third trimester of non-complicated pregnancies; /III/ twenty two diabetic pregnant women without retinopathy; /IV/ fifteen diabetic pregnant women with retinopathy. Platelet MDA production following N-ethyl-maleimide induced aggregation was measured according to Stuart et al. The mean value of MDA production was similar in volunteers and normal pregnant women /SDM, 7.07±0.73 nmoles MDA per 109 platelets; 7.22±0.81/. The mean MDA production in diabetic women without retinopathy was slightly but nonsignificantly higher than that in normal pregnant women /7.57±1.02; p>0.05/. The corresponding value in diabetic women with retinopathy was significantly higher than the values in the other three groups /8.47±0.82; p<0.01/. These data suggest that the activation of prostaglandin synthetic pathway /measured by MDA/ is significantly increased in diabetic pregnancy complicated by retinopathy. The increase of platelet prostaglandin synthesis in diabetic pregnancy might play an important role in initiating and/or promoting the small-vessel complications of placenta.

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