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.