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At least 487 records · Page 27Linked to original sources
PubMed2002

Multiple metabolic abnormalities in a patient with the syndrome of inappropriate antidiuresis.

The syndrome of inappropriate ADH secretion (SIADH) is a common cause of hyponatremia. However, other metabolic abnormalities have infrequently been described in patients with the syndrome of inappropriate antidiuresis. Here, we describe a female patient with hyponatremia due to SIADH who presented with a cluster of metabolic abnormalities and specifically hypouricemia associated with uricosuria, hypokalemia caused by renal potassium wasting, hypomagnesemia with inappropriate magnesiuria, hypophosphatemia with renal phosphate wasting and inappropriate calciuria. These abnormalities could be partly due to the extracellular volume expansion and were corrected with the water restriction-induced increase in serum sodium levels.

Blood Volume↗
PubMed1992

Structural brain correlates of neurologic abnormalities in multiple sclerosis.

We examined the relationship between cerebral magnetic resonance imaging (MRI) findings and urinary dysfunction in 70 consecutive patients with definite multiple sclerosis. MRI-weighted lesion scores for seven different brain regions were recorded according to the number and size of cerebral lesions. Thirty-two subjects (46%) had urinary symptoms and 38 (54%) were asymptomatic. Subjects with urinary symptoms exhibited greater overall functional disability and a higher midbrain MRI-weighted lesion score than asymptomatic patients. No statistically significant group differences were found for the other brain regions.

Adolescent↗
PubMed1993

Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.

In 16 members of two Austrian families affected by a missense mutation at codon 188 of the lipoprotein lipase (LPL) gene (8 heterozygous and 8 normal subjects), carrier status for the mutation as determined by DNA analysis was related to LPL activity in postheparin plasma, to the magnitude of postprandial lipemia, and to concentration, composition, and size of the major lipoprotein classes of postabsorptive plasma. Carriers exhibited clearly reduced LPL activity, normal fasting triglycerides, but pronounced postprandial lipemia. The carriers' impaired triglyceride tolerance, as evident in the postprandial state of challenge only, was associated with a fasting lipoprotein constellation characterized by (a) enrichment of HDL2 with triglycerides, (b) reduced HDL2-cholesterol, (c) enrichment of VLDL and intermediate density lipoprotein (IDL) with cholesteryl esters, (d) elevated IDL levels, and (e) small-sized LDL. Within any given individual, the degrees of expression of these characteristics were quantitatively and continuously related with each other as well as with the magnitude of lipemia and with LPL activity.

Adolescent↗
PubMed1977

Multiple leukocyte abnormalities in chronic granulomatous disease: a familial study.

A variety of leukocyte enzyme activities were studied in an 11-year-old female with chronic granulomatous disease (CGD) and several members of her family. Leukocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity was 17 nmol/min/mg protein in the patient; two brothers with symptoms of recurrent bacterial infections have G-6-PD activities of 58 and 37 nmol/min/mg protein; the activites of this enzyme in both parents, maternal grandmother, and one additional brother were within normal limits. Storage at 4 degrees or heating at 37 degrees over a 120-min period revealed a marked lability of G-6-PD activity in the patient's cells which could not be stabilized by the addition of NADP and 2-mercaptoethanol; this lability was not seen in other family members tested. Activities of leukocyte glutathione reductase were reduced in both parents and the two affected male siblings with values of 18, 23, 23, and 24 nmol/min/mg protein, respectively. Activities of leukocyte glutathione peroxidase were reduced in all of the immediate family members tested, with values ranging from 11.2 to 43 nmol/min/mg protein; the activity of this enzyme in the patient was 38.5. Leukocyte NADP content in the patient, father, and two affected male siblings were 16.5, 23.4, 22.2, and 28.2 nmol/15 min/10(7) leukocytes, respectively.

Adolescent↗
PubMed1982

Acid mucopolysaccharide (AMPS) abnormality in multiple sulfatase deficiency: chemical compositions of AMPS in urine and liver.

Extensive chemical analyses of acid mucopolysaccharides (AMPS) were carried out in the urine and tissue (liver and brain) from a Japanese patient and two European patients with multiple sulfatase deficiency (MSD). The Japanese patient with MSD contained excessive quantities of heparan sulfate and moderately increased chondroitin sulfate A/C. Urinary excretion of AMPS in MSD heterozygotes was increased 2-fold compared to our controls. The urinary pattern of AMPS in the mother of the MSD patient showed an increase of 18% heparan sulfate and 36% dermatan sulfate whereas the urinary excretion pattern in the father was increased 21% for heparan sulfate as contrasted to controls (chondroitin sulfate A, 50-52%; chondroitin sulfate C, 38-46%; and heparan sulfate, 3-10%). Seventy-five % of the AMPS and the MSD liver was heparan sulfate rather than dermatan sulfate. The degree of accumulation of AMPS in the MSD liver was 30-50 times that of the control. Cerebral gray matter from the MSD patient contained 30-40 times that of control (relative increase of heparan and dermatan sulfate) whereas only a 5-fold increase was observed in white matter. It seems that a major site of accumulated AMPS appears to be in the gray matter. Carbohydrate analysis of the AMPS obtained from MSD urine and tissues was performed by: enzyme digestion with testicular hyaluronidase, heparitinase and chondroitinase ABC, cellulose acetate electrophoresis, Dowex-1 column chromatography and amino sugar analysis by amino acid analyzer. These findings indicate that the major accumulated AMPS in MSD urine and liver is heparan sulfate and thus, the predominant AMPS metabolic defect in MSD is heparan sulfate degradation.

Brain Chemistry↗
PubMed1995

Serum insulin-like growth factor-binding protein-3 (IGFBP-3) levels and IGFBP-3 protease activity in normal, abnormal, and multiple human pregnancy.

Proteolytic activity directed against insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) is found in human pregnancy serum. We have investigated changes in this protease activity in pregnancies in which the fetus is small for gestational age and in multiple pregnancies. Maternal serum was obtained from 18 singleton pregnancies at 27 weeks gestational age (GA), and matched fetal serum was collected by cordocentesis. Fetuses were appropriate for GA (AGA; n = 6), small for gestational age (SGA) with evidence of uteroplacental insufficiency (UPI; starved SGA; n = 6), or SGA without UPI (nonstarved SGA; n = 6). In a second study, serum was obtained from women with singleton (n = 10), twin (n = 10), and higher multiple pregnancies (n = 10) at 9 weeks GA. All women with more than three fetuses underwent embryo reduction to 2 fetuses before 15 weeks gestation, when a second serum sample was obtained. Circulating IGF-I and IGF-II were measured by RIA, and IGFBP-3 was measured by both RIA and immunoradiometric assay. IGFBP-3 protease activity was assessed by Western ligand blotting after incubation with a normal nonpregnancy sera pool, immunoblotting, and specific protease assay. In the growth study, circulating maternal IGF-I and IGFBP-3 levels were not different in the three groups, but fetal IGF-I and IGFBP-3 levels were significantly lower in the UPI fetuses (IGF-I, 6.9 +/- 0.5 micrograms/L; IGFBP-3, 547 +/- 70 micrograms/L) than in either the nonstarved SGA fetuses (IGF-I, 27.8 +/- 6.3; IGFBP-3, 769 +/- 41 micrograms/L; P < 0.01) or the AGA fetuses (IGF-I, 39.4 +/- 3.4; IGFBP-3, 872 +/- 91 micrograms/L; P < 0.01). Maternal serum IGFBP-3 protease activity, measured by protease using [125I]IGFBP-3 as substrate, was increased in pregnancies complicated by UPI compared with GA-matched pregnancies in which the fetus was AGA or nonstarved SGA. No significant fetal serum protease activity was demonstrated. In the multiple pregnancies, IGFBP-3 rose significantly from 9-15 weeks GA in singleton (P = 0.005), twin (P = 0.004), and multiple (P = 0.007) pregnancies, and levels were higher in mothers of multiple pregnancies than in those of twin (P < 0.05) or singleton (P < 0.01) pregnancies at both 9 and 15 weeks GA. IGF-I levels were not different in the three groups and did not significantly increase between 9-15 weeks GA.(ABSTRACT TRUNCATED AT 400 WORDS)

Carrier Proteins↗
PubMed1997

Multiple endocrine abnormalities of the growth hormone and insulin-like growth factor axis in prepubertal children with exogenous obesity: effect of short- and long-term weight reduction.

We have studied the GH-insulin-like growth factor (IGF) axis in prepubertal children with exogenous obesity at the time of clinical diagnosis and at two time points during weight reduction on a calorie-restricted diet. Spontaneous GH secretion, IGF-I, free IGF-I (fIGF-I), IGF-II, their binding proteins (IGFBP-1, IGFBP-2, and IGFBP-3), and GH-binding protein (GHBP) values at the time of clinical diagnosis (n = 65), after a 25% decrease in the body mass index (BMI) expressed as the SD score (BMI SD score; n = 29), and after a diminution of at least 50% of the initial BMI SD score (n = 9) are reported. GH secretion was significantly reduced at diagnosis, and after a decrease of at least 25% in the initial BMI SD score, it returned to normal in all patients. Total IGF-I levels were not significantly different from those in controls at any point. In contrast, fIGF-1 and IGF-II levels were significantly increased, both at diagnosis and after BMI SD score reduction. Obese patients were hyperinsulinemic at diagnosis and remained so even after a 50% reduction of their BMI SD score. Serum IGFBP-1 and IGFBP-2 levels were significantly decreased at diagnosis and at the two points studied during weight reduction. Serum IGFBP-3 and GHBP levels were increased significantly at diagnosis and returned to normal levels after a reduction in the BMI SD score. A positive correlation between serum GHBP levels and BMI was found in both controls and obese patients. Serum IGFBP-3 levels correlated positively with IGF-I, fIGF-I, and IGF-II in all groups, but these correlations were weaker in the obese patients at diagnosis. IGFBP-2 correlated significantly with IGF-II only in the obese group at diagnosis (r = -0.760; P < 0.0001), but with fIGF-I in all groups. IGFBP-1 was negatively correlated with IGF-I and fIGF-I in all groups. In conclusion, the GH-IGF axis is dramatically altered in patients with exogenous obesity. However, most changes in the peripheral IGF system appear to be independent of the modifications in GH secretion. In addition, in contrast to current thought, not all of the observed abnormalities are reversed with a significant reduction in the BMI SD score.

Body Mass Index↗
PubMed1997

Multiple endocrine abnormalities of the growth hormone and insulin-like growth factor axis in patients with anorexia nervosa: effect of short- and long-term weight recuperation.

We have studied the GH-insulin-like growth factor (IGF) axis in patients with anorexia nervosa at the time of diagnosis and at two points during weight recuperation. We report their spontaneous GH secretion and IGF-I, free IGF-I (fIGF-I), IGF-II, the IGF-binding proteins (IGFBP-1, IGFBP-2, and IGFBP-3), and GH-binding protein (GHBP) levels at the time of the clinical diagnosis (n = 50) and after recuperation of between 6-8% (n = 42) and 10% or less of the initial weight (n = 20). Two distinct groups were seen, those who significantly hypersecreted GH and those whose GH secretion was reduced significantly. After recuperation of 10% or more of their initial weight, all patients had a normal GH pattern. Independently of GH secretory dynamics, IGF-1, IGFBP-3, and GHBP serum levels were all significantly decreased at diagnosis, and only GHBP returned to normal after weight recuperation. Serum IGFBP-1 and IGFBP-2 levels were significantly increased at the time of diagnosis and decreased after weight recuperation. The body mass index (BMI) correlated positively with fIGF-I levels and negatively with IGFBP-1 and IGFBP-2 levels, but only after weight recuperation in all cases. Contrary to what is seen in normal individuals, no correlation was found between BMI and serum GHBP levels in anorexia nervosa patients. Serum IGFBP-2 levels had a strong negative correlation with fIGF-I, IGF-II, and the sum of IGF-I and IGF-II, but only at the time of diagnosis. In conclusion, the GH-IGF axis is dramatically altered in patients with anorexia nervosa. Changes in the peripheral IGF system however, appear to be independent of modifications in GH secretion and, in contrast to current thought, not all of the observed abnormalities are rapidly reversed with weight recuperation.

Adolescent↗
PubMed1981

Evoked potentials and immunoglobulin abnormalities in multiple sclerosis.

We studied 80 patients with definite, probable, or possible multiple sclerosis, using visual and somatosensory evoked cortical potentials as indicators of manifest or silent plaques. The findings were related to the intracerebral production of immunoglobulin G expressed by the CSF IgG index. Combining the results of evoked potentials and cerebrospinal fluid (CSF) findings, the patients were reclassified. Eight of 18 patients with clinically probable multiple sclerosis were then deemed definite, and 17 of the 42 possible cases were deemed probable. No relation was found between the presumed number of lesions and the rate of intracerebral IgG synthesis.

Adult↗
PubMed1987

Dexamethasone suppression test abnormalities in multiple sclerosis: relation to ACTH therapy.

We studied the 1-mg overnight dexamethasone suppression test (DST) in patients with MS. In about 50% of patients, serum cortisol did not fall below 5.0 micrograms/dl. This percentage was similar in patients with major depression, but contrasted to 11% in normal controls. MS nonsuppressors were not more depressed than suppressors; dexamethasone bioavailability may have contributed because nonsuppressors had lower serum dexamethasone levels than suppressors. Suppressors improved in the week following ACTH therapy; nonsuppressors did not. Furthermore, serum dexamethasone values correlated positively with clinical response to ACTH treatment. The DST may be a useful neuroendocrine test of glucocorticoid sensitivity in MS patients.

Adrenocorticotropic Hormone↗
PubMed1998

Early activation of vascular endothelium in nonobese, nondiabetic essential hypertensive patients with multiple metabolic abnormalities.

Circulating soluble E-selectin, intercellular adhesion molecule-1 (ICAM-1), and vascular adhesion molecule-1 (VCAM-1) concentrations were evaluated in 93 nonobese essential hypertensive patients, of whom 16 had impaired glucose tolerance and hyperlipidemia (group I); 25 had impaired glucose tolerance (group II); 28 had hyperlipidemia (group III); and 24 had no metabolic abnormalities (group IV). A group of 22 healthy volunteers served as a control group. All groups were without clinical or ultrasound evidence of vascular lesion and were matched for age, sex, and BMI. Endothelial soluble adhesion molecules were measured at baseline, during an oral glucose tolerance test, and after 12 weeks of either enalapril or placebo treatments. Plasma soluble E-selectin, ICAM-1, and VCAM-1 were higher (P < 0.05) in group I and II than in the other groups (group I: E-selectin, 96.1+/-27.1; ICAM-1, 304.0+/-102.1; VCAM-1, 626.1+/-156.2 microg/l. Group II: E-selectin, 88.0+/-18.0; ICAM-1, 268.0+/-84.1; VCAM-1, 594.1+/-140.9 microg/I. Group III: E-selectin, 70.1+/-18.1; ICAM-1, 195.1+/-68.0; VCAM-1, 495.9+/-110.1 microg/l. Group IV: E-selectin, 65.1+/-16.1; ICAM-1, 168.1+/-64.0; VCAM-1, 472.1+/-108.2 microg/l). Soluble adhesins levels were not higher than normal in groups III and IV. Plasma soluble ICAM-1 concentrations increased in group I after glucose administration and were directly correlated with 2-h insulin levels (r=0.648, P=0.007). Compared with placebo, 12 weeks of enalapril treatment significantly (P < 0.0001) reduced soluble E-selectin, ICAM-1, and VCAM-1. Decrements of soluble adhesins were not dependent on enalapril-related blood pressure changes. Therefore, an early endothelial activation was present in essential hypertensive patients with impaired glucose tolerance, regardless of the presence of hyperlipidemia. ACE inhibition counteracted such endothelial activation.

Angiotensin-Converting Enzyme Inhibitors↗
PubMed2004

Normalization of multiple hemostatic abnormalities in uremic type 1 diabetic patients after kidney-pancreas transplantation.

To evaluate the effects of kidney-pancreas transplantation on hemostatic abnormalities in uremic type 1 diabetic patients, we conducted a cross-sectional study involving 12 type 1 diabetic patients, 30 uremic type 1 diabetic patients, 27 uremic type 1 diabetic patients who had a kidney-pancreas transplant, 12 uremic type 1 diabetic patients who had a kidney-alone transplant, and 13 healthy control subjects. We evaluated platelet and clotting system. Platelets in the group of uremic type 1 diabetic patients were significantly larger than platelets in the other groups. Resting calcium levels were significantly higher in the uremic type 1 diabetic patients and uremic type 1 diabetic patients who had a kidney-alone transplant than in the type 1 diabetic patients who had a kidney-pancreas transplant and control subjects. CD41 expression was significantly reduced in platelets from the uremic type 1 diabetic patients compared with the other groups. Levels of hypercoagulability markers in the type 1 diabetic patients who had a kidney-pancreas transplant and, to a lesser extent, the uremic type 1 diabetic patients who had a kidney-alone transplant but not the uremic type 1 diabetic patients were similar to those of the control subjects. A reduction in natural anticoagulants was evident in the uremic type 1 diabetic patients, whereas near-normal values were observed in the type 1 diabetic patients who had a kidney-pancreas transplant and uremic type 1 diabetic patients who had a kidney-alone transplant. Hemostatic abnormalities were not observed in type 1 diabetic patients who had a kidney-pancreas transplant. This finding might explain the lower cardiovascular death rate observed in type 1 diabetic patients who had a kidney-pancreas transplant compared with uremic type 1 diabetic patients who had a kidney-alone transplant or uremic type 1 diabetic patients.

Adult↗