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Biomedical subjects

R E Pyeritz

Publications and source records attributed to R E Pyeritz.

At least 145 records · Page 8Linked to original sources
PubMed1983

Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history.

Although mitral regurgitation and fibromyxomatous thickening of the mitral leaflets have long been recognized as such, mitral valve prolapse has only recently been added as one of the pleiotropic features of the Marfan syndrome. The prevalence, age of onset, and natural history of mitral valve dysfunction in this condition are uncertain. Therefore, all patients in one clinic who met strict diagnostic criteria for the Marfan syndrome and who had clinical and echocardiographic examinations before age 22 years were reviewed. Of the 166 patients (84 males, aged 11.9 +/- 0.6 years [mean +/- SEM]; and 82 females, 11.0 +/- 0.6 years), 52 percent had auscultatory and 68 percent had echocardiographic evidence of mitral valve dysfunction, generally mitral valve prolapse. Prevalence did not differ between the sexes. Follow-up in 115 patients averaged five examinations over a mean of four years; 17 percent were followed for more than six years. Criteria for progression of mitral valve dysfunction were: (1) on auscultation, the appearance of new systolic clicks or apical systolic murmurs, a mitral regurgitant murmur increased by two grades, or appearance of congestive heart failure not due to aortic regurgitation; and (2) on echocardiography, the new appearance of mitral valve prolapse or abnormally increased left atrial dimension. Nearly half the patients met at least one criterion and one quarter had both auscultatory and echocardiographic evidence of progressive mitral valve dysfunction. Twice as many females demonstrated worse mitral valve function with time. Eight of the 166 patients either died as a result of mitral valve dysfunction or required mitral valve replacement. Severe mitral regurgitation developed in an additional 15 patients. Rupture of chordae tendineae was uncommon. Antibiotic prophylaxis was routine, and no cases of bacterial endocarditis of the mitral valve occurred. These results suggest that mitral valve dysfunction is extremely common in young patients with Marfan syndrome and usually presents as mitral valve prolapse. Serious mitral regurgitation develops in one of every eight patients by the third decade. Thus, the prevalence and natural history of mitral valve prolapse in the Marfan syndrome appear distinct from mitral valve prolapse associated with other conditions, including idiopathic or familial mitral valve prolapse.

Adolescent↗
PubMed1982

Kinetics and distribution of 111Indium-labeled platelets in patients with homocystinuria.

Homocystinuria is an inborn error of metabolism involving a high incidence of thromboembolism. It sometimes improves with large doses of pyridoxine. We investigated the kinetics and distribution of 111Indoxine-labeled platelets in 11 normal volunteers and 12 patients with homocystinuria, none of whom had clinical evidence of acute thrombosis at the time of the study. Six of the patients were resistant to pyridoxine and had homocystinemia. There were no statistical differences in mean platelet-survival times between pyridoxine responders and nonresponders or between normal subjects and pyridoxine responders or nonresponders, regardless of whether a linear, exponential, or multiple-hit model was used to analyze the kinetic data. Plasma homocystine levels had no apparent effect on mean platelet-survival time. There was no abnormal accumulation of platelets in any of the patients, and the distribution of platelets in liver and spleen was similar to that in normal subjects. Our results suggest that the kinetics and distribution of platelets in patients with homocystinuria who have no clinical evidence of thromboembolism are normal. Thus, the data do not provide evidence for disordered platelet function or for an ongoing interaction of platelets with vessel walls in this condition.

Adolescent↗
PubMed1982

Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia.

Analysis of retrospective growth data from 72 patients with diastrophic dysplasia, 62 patients with spondyloepiphyseal dysplasia congenita and 61 patients with pseudoachondroplasia permitted the establishment of preliminary reference growth standards for height for each disorder. In addition, a comparison of mean height curves for these three disorders and achondroplasia revealed dissimilarities in growth patterns.

Achondroplasia↗
PubMed1982

Cutis laxa.

Explore the source record for details and available documents.

Collagen↗
PubMed1981

Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias.

A 30 year old woman with marked joint hypermobility had severe, progressive lung disease, seizures, aneurysms of the sinuses of Valsalva and myocardial infarction documented during life. She died of intractable ventricular fibrillation, and postmortem examination showed myocardial injury in the distribution of the left coronary artery but no occlusive coronary artery disease. Severe panacinar emphysema was found in the lungs. Cerebral heterotopias with peculiar vascularization were present and were a likely cause of the seizure disorder. Electron microscopy showed dermal collagen fibrils to be heterogeneous in size, reduced in number, and irregular and frayed in appearance. This patient had a form of the Ehlers-Danlos syndrome, different from the 10 distinct variants described thus far, associated with lethal internal manifestations.

Adult↗
PubMed1981

Maternal and fetal complications of pregnancy in the Marfan syndrome.

The medical literature reports 32 women affected by the Marfan syndrome who had at least one pregnancy; 16 died of and four survived acute aortic dissection. Most of the women who suffered an aortic complication in association with pregnancy had pre-existing aortic regurgitation, aortic root dilatation or other severe cardiovascular problem. Because women with the Marfan syndrome usually desire children, our clinic records were reviewed and patients were contacted to determine a more representative estimate of maternal risks. The pregnancy histories of women with the Marfan syndrome were compared with those of spouses of men with the Marfan syndrome and those of mothers of a sporadic (new mutation) child with the Marfan syndrome. One of 26 women with the Marfan syndrome died shortly after pregnancy of endocarditis; she was the only woman to have a severe, pre-existing cardiovascular condition. The prevalences of milder pregnancy-associated cardiovascular and general complications did not differ among the study groups. The rate of early spontaneous abortion was higher in women with the Marfan syndrome than in either control group. These results suggest the risk of maternal death is low in women with the Marfan syndrome who have minimal cardiovascular disease. Women with the Marfan syndrome should be counseled regarding pregnancy risks only after review of their cardiovascular status, including an echocardiographically determined aortic root diameter.

Adult↗
PubMed1981

Surgical management of patients with the Marfan syndrome and dilatation of the ascending aorta.

Until recently, surgical correction of Marfan defects of the aortic root has been undertaken with some hesitancy because of the high perioperative risk. The Division of Medical Genetics at Johns Hopkins follows about 300 patients with the Marfan syndrome, and during the past 8 years 13 of these were referred to the senior author (V.L.G.) for aortic valve replacement and repair of the ascending aorta. Preoperatively, four of the 13 patients were in New York Heart Association (NYHA) Class IV (3/4 required emergency operation), three patients were in Class III, and six were in Class II. The aortic diameter at the mid-valve level ranged from 5.3 cm to 8.2 cm on M-mode echocardiography. The first two patients received a separate Björk-Shiley prosthesis and a woven Teflon graft and the last 11 patients had a composite valve-graft with direct coronary implantation. There were no hospital deaths. Follow-up ranges from 6 months to 8.1 years and is complete for all 13 patients (mean of 23 months). Two late deaths occurred 2 and 20 months postoperatively from presumed arrhythmia and two late deaths occurred at 4 and 6 months from endocarditis. The actuarial survival rate at 3 years is 61%. Some pathologists claim that the incidence of dissection of the aorta does not increase with increasing aortic dilatation in the Marfan patient. Six of our 13 patients, however, had aortic dissection at the time of surgery (two DeBakey Type I, three Type II, and one Type III). With the low hospital mortality that can now be achieved in the Marfan patient, and with the relatively high incidence of clinically unrecognized dissection, we fell that strong consideration should be given to earlier prophylactic repair in these patients. Operation may be indicated even in the asymptomatic Marfan patient with an aortic root diameter greater than 5.5 cm.

Adult↗
PubMed1980

Plasma exchange removes glycosphingolipid in Fabry disease.

In a man with Fabry disease, basal plasma glycosphingolipid (GSL) levels were determined by high-performance liquid chromatography (HPLC). A series of three alternate-day plasma exchanges transiently lowered plasma ceramide trihexoside (CTH) to normal. A total of 70 mu moles of CTH were removed by eight plasma exchanges. If future studies show that pathologic tissue accumulations of CTH are reduced by plasma exchange, then long-term repetitive plasma exchange could be used as treatment until enzyme replacement is practical.

Adult↗
PubMed1980

Application of "high-performance" liquid chromatography to the study of sphingolipidoses.

Quantitative high-performance liquid chromatographic analysis of perbenzoylated sphingolipids has been used to study the correlations of body chemistry to clinical phenomena. Plasma sphingolipids were isolated from 32 Gaucher (beta-glucosidase deficiency) and six Fabry (alpha-galactosidase deficiency) patients by solvent partition and chromatographic separation on silicic acid columns. Plasma sphingolipids from a patient undergoing plasma-exchange were separated from interfering lipids with reversed-phase columns. Liquid-chromatographic analysis of sphingolipids provides useful supportive information for diagnoses because affected individuals are shown to possess increased circulating concentrations of the pathognomonic sphingolipid. We also used this technique to monitor sphingolipid concentrations in plasma and urine sediment during plasma exchange of a p atient with Fabry's disease. Regular plasma exchanges produced and maintained decreased concentrations of sphingolipids in plasma, but near pre-exchange concentrations were observed within days after the therapy was terminated.

Chromatography, High Pressure Liquid↗