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Biomedical subjects

D Massie

Publications and source records attributed to D Massie.

14 recordsLinked to original sources
PubMed1999

Chromosome 22q11 microdeletion and congenital heart disease--a survey in a paediatric population.

UNLABELLED: Congenital heart disease is a common finding in patients with microdeletion of chromosome 22q11. To determine if the deletion is an epidemiologically important cause of congenital heart disease, we studied a consecutive series of children attending a paediatric cardiac clinic and of neonates diagnosed as having structural congenital heart disease. Venous blood samples were tested by fluorescent in-situ hybridisation analysis for microdeletion of chromosome 22q11 using probe D22S75. Each patient was examined for the other clinical features associated with microdeletion of chromosome 22q11, and any family history of congenital heart disease recorded. Of 151 families approached, 111 participated and a fluorescent in-situ hybridisation result achieved in 87. One patient with microdeletion of chromosome 22q11 was identified; the clinical features were those of DiGeorge syndrome. Two patients with CHARGE association, two with nasal speech, ten with high arched palate, and 15 with minor facial dysmorphic features had no deletion. CONCLUSION: Microdeletion of chromosome 22q11 detected by probe D22S75 is rare in this consecutive series of patients with structural congenital heart disease.

Child↗
PubMed1998

Motor vehicle occupant deaths among Hispanic and black children and teenagers.

OBJECTIVE: To determine the risk of motor vehicle occupant deaths per unit of travel for Hispanic, non-Hispanic black, and non-Hispanic white children (aged 5-12 years) and teenagers (aged 13-19 years). DESIGN: Comparison of 1989 to 1993 motor vehicle occupant death rates of children and teenagers by race, ethnicity, and sex by using data on mortality from the National Center for Health Statistics, travel data from the 1990 Nationwide Personal Transportation Survey, and 1990 US census data. RESULTS: Among children 5 to 12 years old, race/ ethnicity differences per 100000 persons were unremarkable, but per billion vehicle-miles of travel, the rates were 14 for non-Hispanic blacks, 8 for Hispanics, and 5 for non-Hispanic whites. Among teenagers aged 13 to 19, the rates per 100000 persons were highest for non-Hispanic whites; however, the rates per billion vehicle-miles were 45 for Hispanics, 34 for non-Hispanic blacks, and 30 for non-Hispanic whites. Black and Hispanic male teenagers had substantially higher death rates per billion vehicle-miles of travel than either white male teenagers or female teenagers in any racial/ethnic group. CONCLUSIONS: Black and Hispanic children and teenagers are at higher risk of dying in motor vehicle crashes when they travel. Greater public health attention is needed to address these increased risks.

Adolescent↗
PubMed1998

Biliary, pancreatic, and sphincter of Oddi electrical and mechanical signals recorded during ERCP.

Measurements of biliary tract motility have focused on radiologic and pressure measurements to quantify biliary motility rather than measurements of electrical activity of the biliary tract. We previously reported the recording of biliary electrical signals during ERCP and now report on the continued development and validation of a system to measure biliary tract electrical activity as well as biliary mechanical activity. In 26 patients presenting with a variety of clinical indications, we recorded measurements of electrical activity from the common bile duct sphincter (16 patients), pancreatic duct sphincter (eight patients), and/or sphincter of Oddi (eight patients). Electrical recordings were performed with a specially modified ERCP catheter, using two circular electrodes as well as a custom catheter that measured both electrical and mechanical activity. Electrical activity of the biliary tract was successfully recorded in 25 of 26 patients (96%), including the common bile duct sphincter (16 patients, 62%), pancreatic duct sphincter (eight patients, 31%) and sphincter of Oddi (eight patients, 31%). Along with the electrical recordings, common bile duct sphincter mechanical activity was recorded in 12 patients (67%), pancreatic duct sphincter mechanical activity in six patients (33%), and sphincter of Oddi mechanical activity in six patients (33%). Frequency analysis of electrical signals revealed a mean frequency (cycles/min) of 4.7 +/- 0.5 in the common bile duct sphincter, 4.1 +/- 0.6 in the pancreatic duct sphincter, and 4.9 +/- 0.7 in the sphincter of Oddi. Phasic mechanical frequency in cycles per minute was recorded at a frequency of 4.8 +/- 0.5 in common bile duct sphincter, 4.0 +/- 0.6 in pancreatic duct sphincter, and 5.3 +/- 0.9 in sphincter of Oddi. Tonic pressure (averaged 12.1 +/- 1.5 mm Hg) in common bile duct sphincter, 12.4 +/- 1.4 mm Hg in pancreatic duct sphincter, and 15.0 +/- 5.1 mm Hg in sphincter of Oddi. Analysis of wave form propagations (noted as percentage antegrade, retrograde, or indeterminant) revealed 50% antegrade, 23% retrograde, and 27% indeterminant). One patient was recorded on two occasions via ERCP; the same patient had an intraoperative recording. All three recordings showed similarities. We conclude that measurements of biliary, pancreatic, and sphincter of Oddi electrical and mechanical activity are feasible and can be done as part of ERCP. There was good correlation between biliary tract electrical and mechanical events and different wave form characteristics were noted for different parts of the biliary tree. Further studies are warranted to evaluate the potential usefulness of measurement of biliary tract electrical activity, and to confirm its correlation with mechanical events in the pancreato-biliary tree.

Adult↗
PubMed1998

Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.

The clinical features and cytogenetic results of an 18 year old mentally handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX,dup(1)(q12q22)/46,XX) are reported. The case is compared with the three previously described cases and possible mechanisms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome which was previously reported in a subject mosaic for a tandem duplication involving chromosome (1)(q11q25).

Adolescent↗
PubMed1995

The effect of misoprostol on indomethacin-induced renal dysfunction in well-compensated cirrhosis.

BACKGROUND/AIMS: Indomethacin has been shown to have adverse effects on renal function in patients with well-compensated alcoholic cirrhosis. The aim of this study was to determine whether an oral prostaglandin E1 analogue, misoprostol, could prevent this indomethacin-induced renal dysfunction. METHODS: Six patients with well-compensated alcoholic cirrhosis were studied. Renal hemodynamics and tubular function were assessed by clearance techniques before and after an oral dose of (i) 50 mg of indomethacin alone (I50), and (ii) a combination of I50 and 200 micrograms of misoprostol. RESULTS: I50 produced a significant reduction in glomerular filtration rate, a fall in effective renal plasma flow and an increase in renal vascular resistance. Two hundred micrograms of misoprostol was able to abolish the deleterious renal effects of indomethacin totally, yielding an increase in glomerular filtration rate and effective renal plasma flow and a decrease in renal vascular resistance as well as an increase in urinary volume and urinary sodium excretion. These beneficial effects were maximal in the hour immediately following medication, but were only transient, and this may be a limiting factor in its clinical use. CONCLUSIONS: If the beneficial renal effects of misoprostol could be confirmed after chronic administration, then the vasodilatory, natriuretic and diuretic potential of 200 micrograms of misoprostol could be of potential therapeutic value in patients with well-compensated alcoholic cirrhosis who require non-steroidal anti-inflammatory drug therapy.

Administration, Oral↗
PubMed1995

The dose-dependent effect of misoprostol on indomethacin-induced renal dysfunction in well compensated cirrhosis.

Misoprostol (200 micrograms) has been shown to acutely counteract the indomethacin-induced renal dysfunction in well compensated cirrhotic patients. The aim of this study was to determine if the prophylactic value of misoprostol was dose-dependent. Parameters of renal hemodynamics and tubular sodium and water handling were assessed by clearance techniques in 26 well compensated cirrhotic patients before and after an oral combination of 50 mg of indomethacin and various doses of misoprostol. The 200-micrograms dose was able to totally abolish the deleterious renal effects of indomethacin, whereas the 800-micrograms dose resulted in significant worsening of renal hemodynamics and sodium retention. These changes were maximal in the hour immediately after medications and slowly returned toward base-line levels thereafter. These results suggest that the renal protective effects of misoprostol is dose-dependent. However, until this apparent ability of 200 micrograms of misoprostol to prevent the adverse effects of indomethacin on renal function is confirmed with chronic frequent dosing, it would be prudent to avoid nonsteroidal anti-inflammatory therapy in patients with cirrhosis.

Diuresis↗
PubMed1994

Renal response to a saline load in well-compensated alcoholic cirrhosis.

A total of 29 patients with well-compensated alcoholic cirrhosis and 9 healthy control subjects of similar age and sex were studied to assess their response to a challenge of 2 L of normal saline infused over a 1 hr period. Patients with cirrhosis had an adequate effective arterial blood volume in the basal state as assessed by neurohumoral markers of vascular filling. They also had a lower renal vascular resistance (p = 0.048) and a higher glomerular filtration rate (p = 0.014) than the controls, indicating the presence of renal vasodilation. Both groups were in sodium balance, but the patients with cirrhosis had a higher filtered load of sodium, an increased proximal tubular reabsorption of sodium (p = 0.015) and a decreased fractional excretion of sodium (p < 0.001). The administration of a saline load was not accompanied by any significant changes in the renal circulation in the patients with cirrhosis. They were unable to suppress their proximal tubular reabsorption of sodium to the same extent as the controls (p = 0.012), so by the fourth hour a significant difference in the rate of urinary excretion of sodium was evident. In the patients with cirrhosis, glomerular filtration rate before and after the saline load correlated significantly with indocyanine green extraction (r = 0.65; p = 0.002), whereas the tubular handling of sodium was dependent on antipyrine clearance (r = 0.80; p < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1994

Dose-dependent effects of oral misoprostol on renal function in alcoholic cirrhosis.

BACKGROUND/AIMS: Prostaglandins are important modulators of renal physiology, particularly when the effective circulatory volume is decreased. The aim of this study was to determine the dose-dependent effects of an oral prostaglandin E1 analogue, misoprostol, on renal function in patients with well-compensated alcoholic cirrhosis. METHODS: Renal hemodynamics and tubular function were assessed by clearance techniques, before and after 100-microgram, 200-microgram, 400-microgram, or 800-microgram oral doses of misoprostol. RESULTS: Overall, the results indicate that low-dose misoprostol is vasodilatory, natriuretic, and diuretic whereas high-dose misoprostol increases renal vascular tone and inhibits sodium and water excretion. The 200-microgram dose produced a transient but significant increase in the glomerular filtration rate and effective renal plasma flow and a decrease in renal vascular resistance. Urinary volume and urinary sodium excretion increased and urinary osmolality decreased. CONCLUSIONS: The results suggest that, in patients with well-compensated cirrhosis, the renal effects of misoprostol are determined by a bell-shaped dose-response curve. The renal vasodilatory, natriuretic, and diuretic potential of 200-micrograms of misoprostol suggests that it may be of therapeutic value in patients with cirrhosis.

Administration, Oral↗
PubMed1994

Nifedipine: its effects on renal hemodynamics and sodium homeostasis in well-compensated alcoholic cirrhosis.

Following the administration of 10 mg of nifedipine to 11 patients with well-compensated alcoholic cirrhosis, there was a significant fall in mean arterial blood pressure, accompanied by an increase in heart rate, presumably due to a significant decrease in systemic vascular resistance. Despite the fall in renal perfusion pressure, there was an increase in the effective renal plasma flow and a significant decrease in renal vascular resistance. The glomerular filtration rate was preserved, suggesting that the decrease in renal vascular resistance was due to a preferential decrease in afferent arteriolar tone. There were no significant changes in the filtered sodium load or the tubular reabsorption of sodium and urinary sodium, and urinary volume did not alter significantly. Although the current study indicates that nifedipine can improve the renal circulation in patients with cirrhosis, the significant effects on the systemic circulation suggest that its potential to reverse the intense renal vasoconstriction that can complicate the clinical course of advanced liver disease is unlikely to be of value in the treatment of the hepatorenal syndrome.

Aged↗
PubMed1993

Indomethacin-induced renal dysfunction in patients with well-compensated cirrhosis.

BACKGROUND: Patients with cirrhosis and ascites are especially sensitive to the adverse renal effects of indomethacin-induced inhibition of prostaglandin synthesis. The aim of this study was to determine whether indomethacin affects renal function in patients with well-compensated cirrhosis. METHODS: Clearance techniques were used to assess renal hemodynamics and sodium and water homeostasis. RESULTS: The oral administration of 50 mg of indomethacin to well-compensated patients with alcoholic cirrhosis was followed by a significant decrease in glomerular filtration rate (GFR) and effective renal plasma flow because of a preferential increase in afferent arteriolar tone. Indomethacin was both antidiuretic and antinatriuretic due principally to decreased free water clearance and increased proximal tubular reabsorption of sodium. The acute changes in renal function were not sustained. Patients with a high basal GFR were particularly sensitive to the adverse renal effects of indomethacin. CONCLUSIONS: This study indicates that in patients with well-compensated cirrhosis renal prostaglandins are functionally active and may contribute to the pathogenesis of glomerular hyperfiltration. Nonsteroidal anti-inflammatory drugs should be used with caution in all patients with cirrhosis.

6-Ketoprostaglandin F1 alpha↗
PubMed1993

Glomerular hyperfiltration in patients with well-compensated alcoholic cirrhosis.

BACKGROUND: Peripheral and splanchnic arteriolar tone is often decreased in patients with cirrhosis. The responsible circulating vasodilator(s) would be expected to also lower renal vascular resistance. To examine this possibility we have undertaken a hemodynamic study of the renal circulation in patients with stable, well characterized, compensated cirrhosis and in healthy controls of similar age and sex. METHODS: Clearance techniques were used to assess splanchnic and renal hemodynamics and hepatocellular function. RESULTS: Renal vascular resistance was significantly reduced in the cirrhotic patients (P = 0.048) and was accompanied by a significant (P = 0.014) and proportional (r = -0.45; P = 0.016) increase in glomerular filtration rate. The hepatic extraction of indocyanine green, a measure of functional intrahepatic portasystemic shunts, was the only independent predictor of glomerular filtration rate (r = -0.65; P = 0.002). CONCLUSIONS: The results support the hypothesis that, in patients with cirrhosis, the presence of portasystemic shunts results in an increased delivery of endogenous vasodilator(s) into the systemic circulation where their principal action on the renal circulation is to preferentially decrease afferent arteriolar tone. The resultant glomerular hyperfiltration may contribute to the pathogenesis of cirrhotic glomerulosclerosis.

Adult↗
PubMedDate not supplied

Renal sodium retention in cirrhosis: tubular site and relation to hepatic dysfunction.

Renal sodium handling, assessed by the response to acute saline loading, was investigated in 14 well-compensated, nonascitic alcoholic cirrhotics and six normal controls. Urinary sodium excretion in cirrhotic patients (199 +/- 141 mumoles per min) was significantly lower than in controls (387 +/- 104 mumoles per min; p less than 0.01) at 3 hr postinfusion. In contrast to controls, renal plasma flow and glomerular filtration rate did not increase in the cirrhotics in response to acute saline loading. Proximal fractional reabsorption of sodium was estimated by clearance techniques in the presence of a hypotonic diuresis. Cirrhotic subjects with impaired functional liver cell mass as assessed by antipyrine clearance were unable to decrease proximal fractional reabsorption of sodium significantly in response to saline loading. Assessment in the cirrhotics included measurement of hepatic vein pressure gradient, indocyanine green extraction ratio, indocyanine green clearance, and antipyrine clearance as indices of portal pressure, intrahepatic shunting, hepatic blood flow and functional hepatocellular mass, respectively. Urinary sodium excretion in the cirrhotics correlated strongly with antipyrine clearance (r = 0.839, p less than 0.0001) and weakly with portal pressure (r = 0.562, p = 0.037). No correlation was seen with the other indices of hepatic blood flow and shunting. The findings of this study suggest that alcoholic cirrhosis is associated with a decline in hepatocellular function which results in either a decreased clearance of a salt-retaining hormone or decreased synthesis of a natriuretic hormone.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗