Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.

Retinoic acid exposures as well as defects in the retinoic acid-degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton. An initial report of four individuals described a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies caused by homozygous pathogenic missense variants in CYP26B1. In contrast, a 22-year-old female was reported with a homozygous missense pathogenic variant in CYP26B1 with complex multisuture craniosynostosis and intellectual disability, suggesting that in some cases, biallelic pathogenic variants of CYP26B1 may be compatible with life.

Comparison of myocardial ischemia during intense mental stress using flight simulation in airline pilots with coronary artery disease to that produced with conventional mental and treadmill exercise stress testing.

Mental stress increases cardiovascular morbidity and mortality. Although laboratory mental stress often causes less myocardial ischemia than exercise stress (ES), it is unclear whether mental stress is intrinsically different or differences are due to less hemodynamic stress with mental stress. We sought to evaluate the hemodynamic and ischemic response to intense realistic mental stress created by modern flight simulators and compare this response to that of exercise treadmill testing and conventional laboratory mental stress (CMS) testing in pilots with coronary disease.

Effects of age on ventricular performance during graded supine exercise.

To assess the effects of age on ventricular performance, graded supine exercise tests with equilibrium radionuclide ventriculography were performed in six normal subjects of mean age 37 +/- 4 years and in eight normal subjects with a mean age of 59 +/- 2 years. At a standard submaximal work load, older subjects had a similar heart rate (older: 126 +/- 10, younger: 128 +/- 5 bpm) and systolic blood pressure responses (older: 198 +/- 24, younger: 202 +/- 24 mm Hg). Cardiac output counts increased appropriately in both groups during submaximal exercise.

Chronic thyroiditis and mitral valve prolapse.

Mitral valve prolapse is more prevalent in patients with autoimmune diffuse toxic goiter, suggesting a possible etiologic association. The prevalence of mitral valve prolapse was determined in 75 patients with chronic lymphocytic thyroiditis, another autoimmune thyroid disorder, and in 50 healthy control subjects. Mitral valve prolapse was found in 31 of 75 (41%) patients with chronic lymphocytic thyroiditis and in 4 of 50 (8%) controls (odds ratio, 8.

Left ventricular thrombus with normal left ventricular function and hyperaggregable platelets in a patient with polycystic disease of multiple organs.

Mural thrombus is a well-recognized cause of systemic embolization. A case is presented where systemic emboli occurred from a mural thrombus in a patient who had no underlying intrinsic heart disease but who had an apparent hypercoagulable state due to hyperaggregable platelets. This mural thrombus was diagnosed by two dimensional echocardiography in which it was observed that the left ventricular wall motion was normal.

Assessment of systolic ventricular muscle function in man: the end systolic index.

Accurate assessment of ventricular muscle contractile function in patients with heart disease is impaired by alterations in afterload, preload and wall thickness which often accompany the disease. The relationship between pressure and volume at end systole is considered to provide a contractile index which is independent of preload and which accounts for afterload. Use of the index prerequisites determinations of the left ventricular end systolic pressure, wall thickness as well as the dimensions or volumes, respectively, which may be assessed with either invasive or noninvasive methods.

Absolute left ventricular volume by an iterative build-up factor analysis of gated radionuclide images.

A method for determining absolute left ventricular (LV) volumes from radionuclide gated blood-pool (GBP) images was validated in 34 patients. The technique is nongeometric, corrects for tissue attenuation, and uses an experimentally determined set of build-up factors to account for the effects of scatter. Only four parameters are needed to determine LV volumes: the LV count rates from a left anterior oblique (LAO) and a right posterior oblique (RPO) image (180 degrees opposed to the LAO), a venous blood sample, and a patient thickness measurement.

Coronary thrombolysis by intravenous streptokinase in acute myocardial infarction: acute and follow-up studies.

Coronary arteriography was performed before, immediately after, and 9 to 14 days after administering i.v. streptokinase (850,000 to 1,500,000 IU) to 43 patients within 6 hours of myocardial infarction.

Multiple scintigraphic findings in a patient with a primary myocardial sarcoma.

Primary myocardial sarcomas are rare. We report the scintigraphic findings observed with TI-201, Ga-67, Tc-99m pyrophosphate, and Tc-99m pertechnetate labeled red cell gated cardiac imaging in a patient with this tumor. We found that thallium and gated blood pool imaging can be used both in the diagnosis of these tumors and the assessment of the effects of chemotherapy on the tumor and normal myocardium.

Central retinal vein obstruction associated with mitral valve prolapse.

Fifteen patients under age 50 years with central retinal vein obstruction (CRVO) and no obvious predisposing ocular or systemic condition underwent a comprehensive medical investigation, including platelet function studies and, in 11 cases, echocardiography. Only 1 patient was found to have a systemic disease (hyperlipoproteinemia), but 11 patients (73%) were found to have abnormalities of platelet function, usually platelet coagulant hyperactivity. Of the 11 patients who underwent echocardiography, 7 (64%) were found to have mitral valve prolapse, a condition predisposing to vascular occlusion, and 4 (60%) of the 7 had abnormalities of platelet function.

Cardiac function in sickle cell anemia.

Although ventricular dysfunction is suspected to underlie congestive heart failure in sickle cell anemia (SCA), ejection indexes of left ventricular (LV) pump performance have been found to be normal. The increased preload and decreased afterload of SCA increases the ejection phase indexes and might obscure true LV dysfunction. Therefore, the preload and afterload independent end-systolic stress-volume index was compared in 11 patients with SCA and in 11 normal volunteers.

Absolute left ventricular volume from gated blood pool imaging with use of esophageal transmission measurement.

A new method for determining absolute left ventricular (LV) volume from equilibrium gated blood pool images was validated in 36 patients by comparing gated blood pool (GBP) imaging with contrast ventriculography (CV) using both Simpson's rule (SR) and area-length (AL) calculations. The technique is geometry-independent and is the first to correct for tissue attenuation with use of an in vivo point source. An orally administered capsule containing 1 to 2 mCi of technetium-99m (Tc-99m) sulfur colloid is used for this purpose.

High-dose, brief intravenous streptokinase early in acute myocardial infarction.

An acute thrombus at the proximal border of a high-grade atherosclerotic obstruction is the usual cause of myocardial infarction. Although intracoronary thrombolysis is potentially an exciting new therapy for reducing the extent of myocardial infarction by lysing coronary clot, a number of major difficulties limit its widespread application. It is a complex procedure requiring intracoronary visualization and infusion within a few hours of onset of symptoms.

Normal left ventricular emptying in coronary artery disease at rest: analysis by radiographic and equilibrium radionuclide ventriculography.

The volume ejected early in systole has been proposed as an indicator of abnormal left ventricular function that is present at rest in patients with coronary artery disease with a normal ejection fraction and normal wall motion. The volume ejected in systole was examined by calculating the percent change in ventricular volume using both computer-assisted analysis of biplane radiographic ventriculograms at 60 frames/s and equilibrium gated radionuclide ventriculograms. Ventricular emptying was examined with radiographic ventriculography in 33 normal patients and 23 patients with coronary artery disease and normal ejection fraction.

Redistribution on the thallium scan in myocardial sarcoidosis: concise communication.

Resting and redistribution thallium studies were performed in four young patients with sarcoidosis to evaluate the possibility of myocardial involvement. In each case the resting scan showed marked defects that resolved on the redistribution studies. In a different patient population, these results would have implied significant coronary artery disease.

Point by Point Examination of the equilibrium gated radionuclide left ventricular time activity curve; validation by biplane angiography.

Examination of the time course of left ventricular ejection has been found useful in several clinical applications. Equilibrium gated radionuclide angiography provides non-invasive means to obtain the ventricular ejection curve. To evaluate the accuracy of the equilibrium gated radionuclide left ventricular volume curve we compared equilibrium gated radionuclide date with biplane cine-angiography in 16 patients examining each set of data on a point by point basis.

Inhibition of mammary tumorigenesis in carcinogen-treated Lewis rats by suppression of prolactin secretion.

One hundred sixty-eight female Lewis rats were treated intragastrically with 10 mg 7,12-dimethylbenz[a]anthracene at 56 and 63 days of age. Pituitary prolactin secretion was suppressed in one-half of these rats by daily sc administrations of 2-bromoergocryptine mesylate (CB-154; 0.4 mg/100 g body wt) from 29 to 90 days of age (series 1) and from 90 to 140 days of age (series 2).