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Biomedical subjects

J Cogan

Publications and source records attributed to J Cogan.

8 recordsLinked to original sources

Heterogeneity in hereditary pancreatitis.

Hereditary pancreatitis (HP) is the most common form of chronic relapsing pancreatitis in childhood, and may account for approximately 25% of adult cases with chronic idiopathic pancreatitis. Recently, an arginine-histidine (R117H) mutation within the cationic trypsinogen gene was found in 5/5 families studied with HP. In this study we report on the results of linkage and direct mutational analysis for the common R117H mutation examined in 8 nonrelated families with hereditary pancreatitis. Two-point linkage analysis with the 7q35 marker D7S676, done initially in 4 families, yielded lod scores that were positive in 2, negative in one, and weakly positive in one. Direct mutational analysis of exon 3 of the cationic trypsinogen gene in 6 families showed that all symptomatic individuals tested were heterozygous for the R117H mutation. Also, several asymptomatic but at-risk relatives were found to be heterozygous for this mutation. Affected individuals in the remaining 2 families did not have the mutation. Radiation hybrid mapping using the Genebridge 4 panel assigned the trypsinogen gene to chromosome region 7q35, 2.9 cR distal to ETS WI-9353 and 3.8 cR proximal the dinucleotide repeat marker D7S676. The negative linkage and absence of the trypsinogen mutation in 2/8 families suggest locus heterogeneity in HP. Analysis of the R117H mutation is useful in identifying presymptomatic "at-risk" relatives and in genetic counseling. Also, it can be useful in identifying children and adults with isolated chronic idiopathic pancreatitis.

Chromosome Mapping↗

Administration of tumor cell chromatin to immunosuppressed and non-immunosuppressed non-human primates.

For decades, developers and regulators of vaccines and other biological products have been concerned about the theoretical risk to patients posed by contaminants derived from the cell substrates used to produce those products. The present study addresses the issue of how risky DNA may be as a residual impurity by injecting both normal and immunosuppressed monkeys with 10(8) genome equivalents of DNA from a human tumor cell line. After more than eight years of observation, none of the animals shows evidence of neoplastic disease. The results of this study along with clinical experiences with already approved products derived from continuous cell lines suggest that he benefits of using such cells for the production of biologicals far outweigh any theoretical risks associated with DNA.

Animals↗

Pulmonary embolism from a popliteal vein aneurysm.

This is the first report of a venous aneurysm detected by radionuclide venography. Aneurysms of the popliteal vein are very rare. Described here is a case of a saccular popliteal venous aneurysm that presented as dyspnea secondary to pulmonary embolism. In this case, there was recurrent PE despite anticoagulant therapy. Almost all such aneurysms are associated with PE, about half of which are recurrent. This report demonstrates another useful aspect of obtaining a simultaneous radionuclide venogram when performing a perfusion lung scan with Tc-99m MAA.

Aged↗

Value of the H-Q interval in patients with bundle branch block and the role of prophylactic permanent pacing.

His bundle electrograms were obtained in 313 patients with chronic bundle branch block who were followed for a mean period of almost 3 years. The infranodal conduction time (H-Q interval) was less than 55 ms in 97 patients (Group I), 55 to 69 ms in 99 patients (Group II), and greater than or equal to 70 ms in 117 patients (Group III). There was a higher incidence of organic heart disease in patients in Group III, but the groups were otherwise comparable. On follow-up study, mortality and the incidence of sudden death were similar among the groups, but patients in Group III had a greater incidence of progression to high degree atrioventricular block (HDB) than did those in Groups I and II (14 of 117 [12%] versus 4 of 97 [4%] and 2 of 99 [2%], p less than 0.01, respectively). High degree block was found in 4 of 17 (24%) patients with an H-Q interval (H-Q) greater than or equal to 100 ms. Sixty-two patients underwent permanent prophylactic pacemaker insertion at the discretion of the referring physician and were compared with 231 patients who did not. Paced patients had a higher incidence of transient neurologic symptoms and prolonged H-Q, but the groups were otherwise comparable. On follow-up study, mortality and the incidence of sudden death were similar among the groups, but symptom relief was significantly more common among patients with pacemakers. In conclusion, in our population (1) H-Q greater than or equal to 70 ms was an independent risk factor for progression to HDB, (2) H-Q greater than or equal to 100 ms identified a subgroup at particularly high risk, and (3) prophylactic pacemakers relieved neurologic symptoms but did not prolong life.

Aged↗

Echocardiography of left ventricular masses.

The M-mode and two-dimensinal real-time echocardiographic findings in 10 patients with left ventricular masses are discussed. Two patients had left ventricular tumors and eight had left ventricular thrombi. In all cases the diagnosis was confirmed by angiography or surgery. The intracavitary and intramural left ventricular tumors were detected both by M-mode and two-dimensional echocardiography . M-mode echocardiography, however, did not detect the left ventricular thrombus in all instances. Two-dimensional echocardiography was able to identify the four large and inhomogeneous left ventricular thrombi but did not clearly identify four cases of smaller mural thrombi. Echocardiography techniques useful in detection of left ventricular masses are discussed.

Adult↗