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Biomedical subjects

R Couper

Publications and source records attributed to R Couper.

At least 19 recordsLinked to original sources
PubMed1997

Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.

We report a four-generation family, with five individuals affected by osteopathia striata with cranial sclerosis (OS-CS). The family illustrates the wide spectrum of gene expression in this autosomal dominant condition. Of particular note is the unusually severe expression in the proband, who exhibits virtually all of the reported associations of the syndrome. Proximal osteolysis of the fibula and congenital urological abnormalities, in the proband, and holoprosencephaly sequence, in the proband's sister, have not previously been described in the syndrome.

Abnormalities, Multiple↗
PubMed1996

Relationship of hepatocyte growth factor in human umbilical vein serum to gestational age in normal pregnancies.

Hepatocyte growth factor (HGF) is expressed in placental syncitium and fetal organs and acts as a mitogen, motogen, and morphogen in vitro, suggesting a role in fetal growth and development. We aimed to examine the correlates of serum HGF in human cord blood. HGF was measured by ELISA using recombinant human HGF and mouse MAb to recombinant human HGF (Immunology Institute, Tokyo). Umbilical vein blood was collected prospectively at 148 deliveries including 94 normal pregnancies and 54 pregnancies complicated by medical conditions, primarily diabetes mellitus and pregnancy-induced hypertension. Growth parameters, gestation, pregnancy history, and perinatal events were recorded. Sera from 54 adolescents and 32 adult controls were also analyzed. Cord HGF [0.97 (0.66-1.33) ng/mL] [median (25-75 percentile)] was higher than HGF levels in adolescent sera [0.28 (0.21-0.35) ng/mL, p < 0.0001] and adult control sera [0.23 (0.14-0.31) ng/mL, p < 0.0001]. Cord HGF correlated with gestational age (r = 0.42, p = 0.0001) in normal pregnancies, with term babies (n = 69) having higher cord HGF than babies less than 37 wk of gestation (n = 25) [1.11 (0.78-1.45), 0.78 (0.46-1.03) ng/mL, p = 0.0007]. However, there was no relationship between gestation and cord HGF in complicated pregnancies. Cord HGF did not differ at term between appropriate for gestational age babies and small for gestational age babies. There were no independent correlations between cord HGF and birth weight, birth length and placental weight. We provide evidence for the first time that cord HGF levels are high and relate to gestation in normal pregnancies. HGF may have a significant role in fetal development during pregnancy.

Adolescent↗
PubMed1994

Ambulatory blood pressure and heart rate in adolescents with insulin-dependent diabetes mellitus.

There is little information regarding ambulatory blood pressure in adolescents with insulin-dependent diabetes. Twenty-four-hour ambulatory blood pressure and heart rate was studied in 28 normotensive adolescents with insulin-dependent diabetes mellitus (IDDM) and normoalbuminuria, and adolescent controls. Ambulatory heart rate was higher during day and night (P = .001) in the IDDM patients, with normal mean diurnal variation of heart rate and blood pressure. Duration of diabetes related to diastolic ambulatory blood pressure (r = 0.69, P = .0001) and diastolic blood pressure burden (r = 0.61, P = .0001) independent of age, gender, height, body mass index, metabolic control, and albumin excretion rate. The ambulatory blood pressure monitor was well accepted in patients and controls. Ambulatory blood pressure monitoring in adolescents detects early changes in relation to duration of insulin-dependent diabetes.

Adolescent↗
PubMed1993

Immunoreactive calmodulin in cystic fibrosis kidneys.

BACKGROUND: Microscopic nephrocalcinosis has been detected at autopsy in 35 of 38 (92%) cystic fibrosis (CF) patients. A primary defect of calcium metabolism in the kidney has been postulated. Intracellular calcium and calmodulin (a calcium binding protein) have been shown to be increased in CF tissues. AIMS: To determine whether CF kidneys obtained at autopsy contain normal amounts of calmodulin and whether the presence of immunoreactive calmodulin correlates with nephrocalcinosis. METHODS: An immunoperoxidase method was used to stain kidneys obtained from six CF individuals aged three to 27.5 years (mean 15.75 +/- 10.2 years) and five individuals who died of chronic debilitating disease aged eight to 17 years (mean 13.6 +/- 3.9 years). Calcium staining was undertaken using the von Kossa (silver precipitation) and Alizarin red methods. RESULTS: No quantifiable difference in immunoreactive calmodulin staining was demonstrated in autopsy renal specimens between six CF patients and five chronically diseased controls. Three of six CF patients aged 22.8 +/- four years and two of five chronically diseased controls aged eight to 16 years respectively had detectable immunoreactive calmodulin staining. Within the CF group the presence of microscopic nephrocalcinosis did not correlate with immunoreactive calmodulin staining. CONCLUSION: This study does not support the premise that a calmodulin-dependent defect of intracellular calcium handling contributes to the microscopic nephrocalcinosis seen in CF.

Adolescent↗
PubMed1992

Exocrine pancreatic function in children with systemic lupus erythematosus.

We examined the incidence and spectrum of pancreatic disease in pediatric systemic lupus erythematosus (SLE). We measured serum immunoreactive cationic trypsinogen (IRT) in 185 samples obtained from 35 patients with SLE. Fifteen patients (43%) had elevated IRT levels on at least one occasion. Serum samples were obtained in 20 of 35 patients before start of treatment. Seven of these 20 patients (35%) had elevated IRT levels at diagnosis, which slowly returned to normal as their disease was controlled with treatment. A further 3 of these 20 patients in whom we had sera at diagnosis had elevated levels at some course during their illness. Of the remaining 15 patients in whom sera was not available at diagnosis, 5 patients had increased IRT levels on at least one occasion. We show that elevated IRT levels are common in pediatric SLE, but there was no apparent association with drugs such as prednisone and azathioprine. However, high levels of IRT at the time of diagnosis may be related to an underlying disease component such as vasculitis.

Adolescent↗
PubMed1991

Neutrophil dysfunction in glycogen storage disease Ib: association with Crohn's-like colitis.

Two cases of patients with Crohn's-like colitis and glycogen storage disease Ib have been reported previously. In the current report, chronic inflammatory bowel disease that developed in another adolescent with this glycogenosis is described, thereby corroborating the association. The neutrophil dysfunction observed in glycogen storage disease Ib is the most likely predisposing factor. Neutrophil function was investigated in our patient in an attempt to shed light on the pathogenesis of his intestinal inflammation. The patient displayed reduced neutrophil chemotaxis to zymosan-activated serum, N-formyl-methionine-phenylalanine, and Escherichia coli bacteria-derived factor and reduced intracellular killing of Staphylococcus aureus 502A. Others have found this defective bacteriocidal activity to be caused by impaired oxidative metabolism. The recent recognition of chronic inflammatory bowel disease in glycogen storage disease Ib, as well as in chronic granulomatous disease, suggests that further study of respiratory burst activity of neutrophils in Crohn's disease is warranted.

Adolescent↗