Search PubMed⌕ Search

Biomedical subjects

M Schloss

Publications and source records attributed to M Schloss.

12 recordsLinked to original sources
PubMed2000

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal recessive deafness were analyzed to refine the DFNB12 locus. In a single family, a critical region was defined between D10S1694 and D10S1737, approximately 0.55 cM apart. Eighteen candidate genes in the region were sequenced. Mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in families with USH1D. Six missense mutations were found in five families with DFNB12, and two nonsense and two frameshift mutations were found in four families with USH1D. A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA.

Alleles↗
PubMed1979

Exercise stress testing. Correlations among history of angina, ST-segment response and prevalence of coronary-artery disease in the Coronary Artery Surgery Study (CASS).

To determine to what extent the diagnostic accuracy of stress testing is influenced by the prevalence of coronary-artery disease, we correlated the description of chest pain, the result of stress testing and the results of coronary arteriography in 1465 men and 580 women from a multicentered clinical trial. The pre-test risk (prevalence of coronary-artery disease) varied from 7 to 87 per cent, depending on sex and classification of chest pain. A positive stress test increased the pre-test risk by only 6 to 20 per cent, whereas a negative test decreased the risk by only 2 to 28 per cent. Aothough the percentage of false-positive results differed between men and women (12 +/- 1 per cent versus 53 +/- 3 per cent P less than 0.001), this difference was not seen in a subgroup matched for prevalence of coronary-artery disease. We conclude that the ability of stress testing to predict coronary-artery disease is limited in a heterogeneous population in which the prevalence of disease can be estimated through classification of chest pain and the sex of the patient.

Angina Pectoris↗
PubMed1977

Left internal mammary--left ventricular fistula after Vineberg operation.

This communication presents an unusual complication in a patient who underwent the Vineberg procedure with the formation of an internal mammary to left-ventricular fistula, which caused a new apical diastolic murmur. This represents a previously unreported etiology for the appearance of an apical blowing diastolic murmur.

Coronary Disease↗
PubMed1976

Echocardiographic findings in a patient with primary pulmonary hypertension.

This is a report of the echocardiographic findings in a 9-year-old white female with primary pulmonary arterial hypertension confirmed by catheterization and later at autopsy. The reported findings of an absent "a" wave, a flat diastolic E to F slope, and a midsystolic closure of the pulmonic valve were observed. In addition, tricuspid valve prolapse was noted. Prolapse of the tricuspid valve may be part of the mechanism of tricuspid insufficiency in a patient with pulmonary hypertension.

Autopsy↗
PubMed1976

The clinical and angiographic spectrum of isolated, nondominant, left circumflex coronary disease.

Sixteen of 994 patients with arteriosclerotic heart disease and dominant right coronary arteries had isolated left circumflex obstruction. Of these, 6 patients had significant (75%) narrowing in the main circumflex, 10 in 1 or the marginal branches and 1 in the atrioventricular groove branch. Angina was mild in 5, moderate to severe in 8, and unstable in 1. Four patients had prior myocardial infarction (MI), and 1 had a recent MI complicated by posterior papillary muscle rupture. The EKG was normal in 5, showed an MI in 2, LBBB in 1, RBBB in 2, ST-T wave changes in 3, LVH in 2, and atrial fibrillation in 2. Left ventricular angiography performed in the right anterior oblique projection revealed normal contraction in 9 patients, apical hypokinesis in 4, posterobasal hypokinesis in 1, and diffuse hypokinesis in 2. The left ventribular end diastolic pressure was normal in 11 patients and elevated in 5. The cardiac index was normal in 12 patients and reduced in 2. Isolated, nondominant, left circumflex coronary disease is an uncommon entity in symptomatic patients. However, when present, it may produce significant clinical and hemodynamic impairment.

Adult↗
PubMed1975

The echocardiographic diagnosis of "concealed" tricuspid stenosis.

A case is presented of a 42-yr old woman with rheumatic heart disease in whom cardiac catheterization revealed severe mitral stenosis and a low cardiac output, but no gradient across the tricuspid valve. Echocardiography clearly demonstrated the presence of tricuspid stenosis and the valve was found to be severely stenotic at surgery. This establishes the value of echocardiography in detecting tricuspid stenosis and suggests that, in some cases, it may be more sensitive than cardiac catherization in detecting this lesion.

Adult↗
PubMed1975

Malfunctioning electrocardiographic monitor simulating sinus arrest.

A 64-year-old patient was admitted to the hospital with a history of two syncopal episodes. The results of the physical examination, resting electrocardiogram and His-bundle study were all normal. Study with a 24-hour ECG monitor (Holter) was at first interpreted as demonstrating periods of sinus arrest. However, more careful examination revealed that these actually represented transient speeding of the monitor tape, perhaps secondary to a semiconductor malfunction. Such monitor malfunction may stimulate severe rhythm disturbances.

Diagnostic Errors↗
PubMed1975

Tricuspid atresia.

Explore the source record for details and available documents.

Echocardiography↗
PubMed1975

Cystic thymoma simulating contrictive pericarditis. The role of echocardiography in the differential diagnosis.

A case is presented of a 60-year-old woman with fatigue, dyspnea, and chest pain. A chest x-ray film revealed an abnormal cardiac silhouette. Echocardiography revealed a large, echo-free area with well-demarcated, discrete borders adjacent to the right heart border. This structure decreased in size with inspiration and did not show pulsatile cardiac motion. Cardiac catheterization confirmed the extracardiac nature of the lesion and also showed a "constrictive" pattern with equalization of diastolic pressures. Surgical exploration revealed a large cystic thymoma. With removal of the tumor, intracardiac pressures returned to normal.

Cardiac Catheterization↗
PubMedDate not supplied

Digital range-gated echocardiographic tracking.

Many applications of standard echocardiography require velocity computation which is usually determined by manually measuring slopes on an echocardiogram. However, manual techniques are limited by the inaccuracy with which slopes may be drawn and measured, the large amount of time required for detailed analysis, and the lack of real time information. A system is described which automatically provides real time and continuous and essentially instantaneous position and velocity measurements on selected heart structures. The system is designed with digital electronics wherever possible to facilitate data processing and the transfer of information to a computer. The system has advantages over continuous wave ultrasonic Doppler techniques and a range-gated ultrasonic Doppler system because dynamic, range-gated digital tracking allows target isolation and identification. Also, because range gate size may be kept small, noise susceptibility is minimized.

Computers↗