Family Studies on the Activity of Uroporphyrinogen I Synthase in Diagnosis of Acute Intermittent Porphyria

1978 ◽  
Vol 54 (3) ◽  
pp. 251-256
Author(s):  
E. G. Astrup
Keyword(s):  
Enzyme Activity ◽  
Sex Difference ◽  
Family Studies ◽  
Acute Intermittent Porphyria ◽  
Normal Subjects ◽  
Discriminative Power ◽  
Healthy Men ◽  
Aminolaevulinic Acid ◽  
Spectrofluorimetric Method ◽  
The Mean

1. Ten subjects with acute intermittent porphyria from three different families, and 92 relatives, were investigated for their erythrocyte uroporphyrinogen I synthase (EC 4.3.1.8) activities by the spectrofluorimetric method described and for their urinary concentrations of δ-aminolaevulinic acid and porphobilinogen. 2. The mean uroporphyrinogen I synthase activity in 41 healthy women and 41 healthy men showed a significant (P < 0·001) sex difference. 3. A reduction of about 32% of the enzyme activity was observed in the porphyric subjects as compared with values in healthy normal subjects and the values from the porphyric subjects overlapped those of the reference subjects. 4. With the values from the normal subjects in each family used as reference, however, the enzyme activity in normal subjects was twice that in affected subjects. Thus by using an internal family reference uroporphyrinogen I synthase values became more reliable in disclosing latent cases of the disorder. Furthermore, these measurements were shown to have a stronger discriminative power than urinary δ-aminolaevulinic acid and porphobilinogen determinations.

δ-Aminolaevulinic acid in plasma, cerebrospinal fluid, saliva and erythrocytes: Studies in normal, uraemic and porphyric subjects

1987 ◽  
Vol 72 (1) ◽  
pp. 103-112 ◽  
Author(s):  
A. Gorchein ◽  
R. Webber
Keyword(s):  
Cerebrospinal Fluid ◽  
Plasma Level ◽  
Plasma Levels ◽  
Acute Intermittent Porphyria ◽  
Maternal Plasma ◽  
Electron Capture Detection ◽  
Maximum Plasma ◽  
Aminolaevulinic Acid ◽  
The Mean ◽  
High Level

1. ô-Aminolaevulinic acid (ALA) was determined by g.l.c. with electron-capture detection. Normal plasma level was 92 nmol/l (sd = 39, n = 89, range 24–270 nmol/l). 2. ALA was undetectable in 35 of 53 samples of normal cerebrospinal fluid (limit of assay 2 nmol/l). The mean of the other 18 samples was 19 nmol/l (sd = 10, range 6–36 nmol/l). 3. Salivary ALA was generally only 10–30% of the plasma level in normal and porphyric subjects. 4. Erythrocytes of normal and porphyric subjects contained no detectable ALA and were impermeable to its entry. 5. ALA clearance correlated closely with that of creatinine, consistent with it being excreted by glomerular filtration with limited tubular reabsorption. 6. In chronic renal failure, serum ALA was elevated to a maximum of three to four times the normal, but its urinary excretion was reduced, in keeping with lessened production. 7. In two cases of acute intermittent porphyria with overwhelming neuropathy the maximum plasma levels of ALA were 9 and 12 μmol/l. Haematin infusion decreased the ALA levels but without obvious clinical benefit. Limited neurological recovery occurred without major reduction in plasma levels of ALA. 8. One subject's attack was precipitated by pregnancy. The neonate was apparently normal, despite high levels of ALA in maternal plasma throughout gestation and a high level of ALA in the cord blood. 9. The observations described here do not support the view that ALA may be directly neurotoxic.

Alterations in Haem Biosynthesis during the Human Menstrual Cycle: Studies in Normal Subjects and Patients with Latent and Active Acute Intermittent Porphyria

1982 ◽  
Vol 62 (2) ◽  
pp. 183-191 ◽  
Author(s):  
K. E. L. McColl ◽  
A. M. Wallace ◽  
M. R. Moore ◽  
G. G. Thompson ◽  
A. Goldberg
Keyword(s):  
Enzyme Activity ◽  
Menstrual Cycle ◽  
Urinary Excretion ◽  
Plasma Concentrations ◽  
Acute Intermittent Porphyria ◽  
Normal Subjects ◽  
Normal Female ◽  
Haem Biosynthesis ◽  
Human Menstrual Cycle ◽  
Female Subjects

1. The timing of onset of attacks of acute intermittent porphyria (AIP) in relation to the menstrual cycle has been studied in three patients experiencing frequent attacks. Nineteen of their 27 admissions in attack for which no exogenous precipitating causes could be identified were during the 7 days before the onset of menstruation. 2. Haem biosynthesis has been monitored throughout a complete menstrual cycle in six normal females and compared with that in male control subjects. In the females, there was marked fluctuation in the activity of the rate-controlling enzyme of haem biosynthesis, δ-aminolaevulinate (ALA) synthase, which was monitored in peripheral leucocytes. The fluctuation did not show any clear association with menstruation and no association was found between the enzyme activity and ovarian or adrenal steroid production as monitored by measurement of plasma concentrations of androstenedione, dehydroepiandrosterone (DHA), dehydroepiandrosterone sulphate (DHAS), testosterone, oestradiol and progesterone. The activity of uroporphyrinogen I (URO) synthase, the enzyme which is deficient in AIP, was monitored in peripheral erythrocytes of four of the normal female subjects and was similar to that found in four male control subjects. The urinary excretion of ALA and porphobilinogen (PBG) was also similar in the male and female subjects and there was no association with the phase of the menstrual cycle or activity of the enzymes studied. 3. Studies of haem biosynthesis have been made throughout a complete menstrual cycle in a 26 year old female with latent AIP. The activity of leucocyte ALA synthase showed more marked fluctuation than in the normal female subjects and was highest at the time of menstruation. No association was apparent between the activity of ALA synthase and plasma concentrations of androstenedione, DHA and DHAS. The fluctuation in activity of erthrocyte URO synthase was similar to that of the normal subjects. The urinary excretion of ALA and PBG was normal throughout and showed no correlation with fluctuations in enzyme activity. 4. The human menstrual cycle modifies haem biosynthesis in normal subjects as well as in subjects with latent and manifested AIP. 5. The human female menstrual cycle modifies haem biosynthesis in peripheral blood cells as well as in the liver.

Low A-esterase activity in serum of patients with fish-eye disease.

1987 ◽  
Vol 33 (4) ◽  
pp. 587-588 ◽  
Author(s):  
M I Mackness ◽  
C H Walker ◽  
L A Carlson
Keyword(s):  
Enzyme Activity ◽  
Esterase Activity ◽  
Normal Subjects ◽  
Mean Value ◽  
Lipoprotein Fraction ◽  
Eye Disease ◽  
Paraoxonase Activity ◽  
Control Subjects ◽  
The Mean ◽  
Fish Eye

Abstract The activity of HDL-associated paraoxonase in the lipoprotein fraction of serum from two patients with fish-eye disease (FED) was only 11% of the mean value for control subjects. Similarly, concentrations of apolipoproteins A-I and A-II in the serum of FED subjects were only 10% of those in normal subjects. Thus the ratio of enzyme activity to A-I and A-II is virtually the same in these two groups of subjects. This suggests that paraoxonase activity of the lipoprotein fraction is associated with one or both of these apolipoproteins.

Instant 99mTc-Labelled Glucoheptonate Kit for Kidney Imaging

1983 ◽  
Vol 22 (05) ◽  
pp. 246-250 ◽  
Author(s):  
M. Al-Hilli ◽  
H. M. A. Karim ◽  
M. H. S. Al-Hissoni ◽  
M. N. Jassim ◽  
N. H. Agha
Keyword(s):  
Sodium Hydroxide Solution ◽  
Normal Subjects ◽  
Organ Distribution ◽  
Stable Complex ◽  
Scintillation Camera ◽  
Ph Adjustment ◽  
The Mean ◽  
The Stability ◽  
Kidney Imaging ◽  
Mean Concentration

Gelchromatography column scanning has been used to study the fractions of reduced hydrolyzed 99mTc, 99mTc-pertechnetate and 99mTc-chelate in a 99mTc-glucoheptonate (GH) preparation. A stable high labelling yield of 99mTc-GH complex in the radiopharmaceutical has been obtained with a concentration of 40-50 mg of glucoheptonic acid-calcium salt and not less than 0.45 mg of SnCl2 2 H2O at an optimal pH between 6.5 and 7.0. The stability of the complex has been found significantly affected when sodium hydroxide solution was used for the pH adjustment. However, an alternative procedure for final pH adjustment of the preparation has been investigated providing a stable complex for the usual period of time prior to the injection. The organ distribution and the blood clearance data of 99mTc-GH in rabbits were relatively similar to those reported earlier. The mean concentration of the radiopharmaceutical in both kidneys has been studied in normal subjects for one hour with a scintillation camera and the results were satisfactory.

Effects of Intermittent Pneumatic Calf Compression On Postoperative Thrombin and Plasmin Activity

1986 ◽  
Vol 56 (02) ◽  
pp. 198-201 ◽  
Author(s):  
Jeffrey Weitz ◽  
Jost Michelsen ◽  
Kenneth Gold ◽  
John Owen ◽  
Duncan Carpenter
Keyword(s):  
Enzyme Activity ◽  
Fibrinopeptide A ◽  
Plasmin Activity ◽  
Neurosurgical Patients ◽  
The Mean ◽  
Calf Compression

SummaryA previous study of neurosurgical patients demonstrated an imbalance between thrombin and plasmin action following surgery. The present study was designed to determine the effect of intermittent pneumatic calf compression on postoperative enzyme activity. Fibrinopeptide A (FPA) and Bβ 1-42 levels, reflecting thrombin and plasmin action respectively, were measured daily in patients undergoing elective craniotomy. Two of 9 patients not receiving calf compression developed positive fibrinogen leg scans, while none of 5 patients receiving prophylaxis had positive scans. Calf compression was associated with a markedly altered pattern of changes in the fibrinopeptide values following surgery. Without compression, there was perturbation of the balance between thrombin and plasmin action on the day after surgery as reflected by an increase in the FPA/Bβ 1-42 ratio. In contrast, in those receiving prophylaxis there was no change in this ratio on the first postoperative day. Calf compression both blunted the mean postoperative increase in the FPA level (1.8 nM vs 4.7 nM; p <.05) and augmented the mean Bβ 1-42 value (3.0 nM vs 0.2 nM; p <.05) so that the mean increase in the FPA/ Bβ 1-42 ratio was only 0.1 with calf compression as compared to 2.2 without it (p <.05). Systemic modulation of both the coagulation and fibrinolytic pathways thus occurred in association with calf compression.

A COMPARISON OF TWO METHODS FOR MEASUREMENT OF ALDOSTERONE SECRETION RATE IN MAN

1966 ◽  
Vol 53 (2) ◽  
pp. 177-188 ◽  
Author(s):  
P. Lund-Johansen ◽  
T. Thorsen ◽  
K. F. Støa
Keyword(s):  
Urinary Excretion ◽  
Normal Subjects ◽  
Secretion Rate ◽  
Aldosterone Secretion ◽  
Simple Method ◽  
Mean Values ◽  
Pathological Conditions ◽  
Significant Difference ◽  
Derivative Method ◽  
The Mean

ABSTRACT A comparison has been made between (A), a relatively simple method for the measurement of aldosterone secretion rate, based on paper chromatography and direct densitometry of the aldosterone spot and (B) a more elaborate isotope derivative method. The mean secretion rate in 9 normal subjects was 112 ± 26 μg per 24 hours (method A) and 135 ± 35 μg per 24 hours (method B). The »secretion rate« in one adrenalectomized subject after the intravenous injection of 250 μg of aldosterone was 230 μg per 24 hours (method A) and 294 μg per 24 hours (method B). There was no significant difference in the mean values, and correlation between the two methods was good (r = 0.80). It is concluded that the densitometric method is suitable for clinical purposes as well as research, being more rapid and less expensive than the isotope derivative method. Method A also measures the urinary excretion of the aldosterone 3-oxo-conjugate, which is of interest in many pathological conditions. The densitometric method is obviously the less sensitive and a prerequisite for its use is an aldosterone secretion of 20—30 μg per 24 hours. Lower values are, however, rare in adults.

EARLY VARIATIONS OF PLASMA CORTISOL AFTER PULSE INTRAVENOUS INJECTION OF DIBUTYRYL CYCLIC ADENOSINE 3′,5′-MONOPHOSPHATE IN NORMAL SUBJECTS

1973 ◽  
Vol 72 (4) ◽  
pp. 753-761 ◽  
Author(s):  
Alberto Angeli ◽  
Giuseppe Boccuzzi ◽  
Roberto Frajria ◽  
Daniela Bisbocci ◽  
Franco Ceresa
Keyword(s):  
Intravenous Injection ◽  
Plasma Cortisol ◽  
Time Course ◽  
Healthy Adult ◽  
Normal Subjects ◽  
Adult Women ◽  
Healthy Women ◽  
Adrenal Steroidogenesis ◽  
The Mean ◽  
Zero Time

ABSTRACT 10 mg/kg of dibutyryl cyclic adenosine 3′,5′-monophosphate (Db-cAMP) was iv pulse injected into twelve healthy adult women. The plasma cortisol levels were determined as 11-OHCS at zero time and then at 2.5, 5, 7.5, 10, 15, 30, 60 and 180 min after the injection. The data were compared with those obtained at the corresponding times in two groups of eleven and seventeen healthy women after the injection of 250 ng and 250 μg of synthetic β-1-24 corticotrophin performed in the same manner as the injection of the nucleotide. The mean increments in plasma cortisol were significantly lower after Db-cAMP than after ACTH. Differences were noted by analyzing the time course of the responses. In the case of stimulation with Db-cAMP the 11-OHCS levels rose progressively to a maximum at 15–30 min. By contrast, a peak of plasma cortisol was evident in most cases within a few min after the injection of ACTH; after a fall, a later rise was then observed starting from 15 min. The differences in the plasma 11-OHCS responses after the two stimuli may also be of interest clinically for the investigation of some aspects of adrenal steroidogenesis.

Antithrombin III, Heparin Cofactor and Antifactor Xa in Relation to Age, sex And Pathological Conditions

1979 ◽  
Author(s):  
F. Panicucci ◽  
A. Sacripanti ◽  
E. Pinori ◽  
M. Vispi ◽  
B. Conte ◽  
...  
Keyword(s):  
Oral Contraceptive ◽  
Antithrombin Iii ◽  
Normal Subjects ◽  
Cerebral Thrombosis ◽  
Positive Correlation ◽  
Pathological Conditions ◽  
At Iii ◽  
The Mean ◽  
Antifactor Xa ◽  
Cofactor Activity

Determinations of AT-III activity, heparin cofactor activity, antifactor Xa activity and AT-III protein were carried out in 200 healthy adults, evenly distributed within age and sex groups, in 60 patients with cerebral thrombosis and in 20 oral contraceptive users. There was a positive correlation between AT-III protein and its activitiesin normal subjects and in patients with cerebral thrombosis. In oral contraceptive users the positive correlation was between AT-III protein and its activities, antifactor Xa activity excepted. The mean AT-III protein and heparin cofactor activity values decreased in males with age and were significantly lower in the groups between 50 and 70 years. The mean AT-III protein and heparin cofactor activity values decreased slightly in women in fertile age and were lower in the 40 to 50 age-group. The mean AT-III protein and its activities values did not show any variation in the patients with cerebral thrombosis. The mean antifactor Xa activity value in the women, taking the pill for 3 months, decreased, whereas the other AT-III activities and AT-III protein were unchanged.

An Electrophysiological Measure of Temporal Resolution in Normal Subjects Using Frequency Modulated Signals

2002 ◽  
Vol 11 (1) ◽  
pp. 42-49
Author(s):  
Devin L. McCaslin ◽  
Lawrence L. Feth ◽  
Gary P. Jacobson ◽  
Pamela J. Mishler
Keyword(s):  
Temporal Resolution ◽  
Mismatch Negativity ◽  
Normal Subjects ◽  
Single Step ◽  
Event Related Potential ◽  
Frequency Range ◽  
Temporal Properties ◽  
Step Duration ◽  
The Mean ◽  
Modulated Signals

This investigation was conducted to determine whether an exogenous event-related potential called the mismatch negativity (MMN) would change systematically in response to frequency-modulated signals with varying temporal properties. Both N1 and P2 waveforms were recorded for 50-ms frequency-modulated signals from normal hearing listeners. The standard stimuli for this investigation were continuous sweep tones with center frequencies of 1000 Hz that traversed a frequency range of 200 Hz in a single step. The rare stimuli were signals that traversed the same frequency range in two, four, six, or eight discrete steps. Results suggest that for the 10 participants, 1) the mean MMN peak-to-peak amplitude and mean area decreased significantly with decreases in step duration, 2) MMN area amplitude was the best indicator of psychophysical performance for the two magnitude measures, and 3) MMN onsets and peak latencies did not show either a significant increase or decrease in latency as step duration decreased.

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