Eugene V. Perrin
Case Western Reserve University
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Clinical Genetics | 2008
A. Al Saadi; Joseph F. Juliar; John Harm; A. Joseph Brough; Eugene V. Perrin; Harold Chen
Two live‐born cases, 69, XXY and one stillbirth, 69, XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low‐set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.
Journal of Bone and Joint Surgery, American Volume | 1972
Kingsbury G. Heiple; Eugene V. Perrin; Masamichi Aikawa
A rare case of congenital generalized fibromatosis, apparently limited to the skeleton. has been described. A presenting fracture through a distal femoral lesion healed rapidly and uneventfully in Bryants traction. The subsequent course was that of complete regression of all lesions within six to nine months.
American Heart Journal | 1970
Cathel A. Macleod; Jay L. Ankeney; Eugene V. Perrin; Stewart S. Nickel; Jerome Liebman
Abstract A case of aneurysmal dilatation of a portion of the left atrium resulting in a diverticulum or aneurysm of considerable size is described. The patient presented with a paroxysmal arrhythmia as the only symptom and this was associated with clinical, radiological, and electrocardiographic signs suggesting ventricular enlargement with a mild degree of mitral insufficiency. These features suggested a primary cardiomyopathy. Further investigation revealed normal ventricular hemodynamics and anatomy, with anterior displacement of the left ventricle by the posteriorly situated aneurysmal mass. Failure to opacify this mass at ventriculography despite some opacification of the left atrium led to the assumption that it was not connected with the cardiac cavities. The association of apparent cardiac enlargement, arrhythmia, and a mass suggested a cardiac or pericardial tumor, and the true diagnosis was not revealed until thoracotomy was performed.
Urology | 1974
Eugene V. Perrin; Lester Persky; Arthur S. Tucker; Blair Chrenka
Abstract Seventeen patients with duplication and coexisting ureteroceles have been studied. In sixteen instances renal dysplasia was also present. This entity has been shown to lead to disability and continued sepsis and therefore dictates direct extirpative surgery.
The Journal of Pediatrics | 1973
Sudesh P. Makker; Warren E. Grupe; Eugene V. Perrin; Walter Heymann
A pair of monozygotic twins with juvenile hereditary nephronophthisis was studiedfor nearly ten years. Astonishing similarity was observed in the clinical course, progression, and histopathology of the disease. In a review of the natural history of various diseases in identical twins it was noted that diseases of infectious or immunologic pathogenesis usually do not follow identical courses. Diseases due to inborn errors of metabolism are more likely to do so. It is suggested that juvenile hereditary nephronophthisis might be due to an inborn error of metabolism.
American Heart Journal | 1973
Moo H. Lee; Errol M. Bellon; Jerome Liebman; Eugene V. Perrin
Abstract The association of truncus arteriousus with truncal valve stenosis is extremely rare. The first case with definite antemortem diagnosis is reported. Aortic valvotomy plus pulmonary artery banding is suggested as a palliative surgical approach for this complex.
The Journal of Pediatrics | 1970
William B. Strong; Eugene V. Perrin; Jerome Liebman; Daniel R. Silbert
An 11-month-old male child suddenly following premedication for cardiac catheterization. His clinical diagnosis had been pulmonary artery stenosis. The postmortem examination revealed severe fibromuscular dysplasia of both systemic and pulmonary arteries. The patients sibling has clinical findings suggestive of pulmonary artery stenosis and possible supravalvular aortic stenosis, both of a mild degree. The mother has been diagnosed as having mild aortic valvular stenosis. There is a strong suggestion that this case represents a symptom complex with a strong familial incidence and an inordinate occurrence of unexpected death in infancy.
British Journal of Radiology | 1974
Errol M. Bellon; Gordon Borkat; Victor Whitman; Eugene V. Perrin
During catheterization of the aortic arch, the passage of an arterial catheter from the femoral artery to the aortic root is assumed almost axiomatically to indicate the integrity of the aortic arch. We will describe in this report a patient who demonstrated this catheterization finding but who did not have an intact aortic arch, thereby disproving this diagnostic criterion. The patient was a nine-day-old female, the product of a normal pregnancy and delivery. She was well until eight days of age, when cardiac failure became apparent and she was transferred to this hospital. Pulse rate was 148/minute and blood pressure was 50 mm Hg (right arm, flush). The brachial pulses were slightly decreased in amplitude and the femoral pulses were barely palpable. There was moderate cyanosis and an increased but not hyperdynamic right ventricular impulse. The first sound was normal. The second sound was of normal intensity and narrowly split. A grade 2/6 systolic ejection murmur was audible at the lower left sternal b...
Pediatric Research | 1977
Flossie Cohen; Rukmani Raghunath; Chester M Zmijewski; Eugene V. Perrin; A. Joseph Brough
A year-old male with SCID was transplanted with fetal liver & thymus from a female fetus removed by hysterotomy from his mother at 16 weeks gestation. The fetus differed from the patient in both HL-A haplotypes. Four days after transplantation, a GvsH reaction appeared: fever, diarrhea, maculopapular rash & pos. skin biopsy. By 14 days, liver enzymes & bilirubin were elevated. Max. values: bilirubin 30mg% (tot.), 19mg% (dir.), SGOT 405U & SGPT 350U.Chimerism was shown by total change in lymphocyte HL-A antigens T cells rose from 5% to 75%, but did not respond to in vitro stimulation by mitogens, antigens & allogeneic cells to date, 7 ½ mos. after transplantation. Immunoglobulins remained essentially absent. Following anti-thymocyte globulin & steroids, bilirubin remains around 10-14mg% (tot.) & 3-8mg% (dir.) & the enzymes have decreased. Liver biopsy 5 mos. after transplantation showed no necrosis, intact lobular architecture, patchy canalicular & hepatocellular bile stasis. Portal bile ducts were totally absent. There were small lymphocytic portal infiltrates. No plasma cells, hematopoietic cells, or fibrosis were seen. No virus was isolated.The observations show that these fetal cells, capable of effecting a severe GvsH reaction in vivo, repeatedly did not respond to various stimuli in vitro before or after transplantation. The observations also suggest that a GvsH type reaction may be one cause of the “disappearing bile duct syndrome.”
JAMA Pediatrics | 1967
Eugene V. Perrin
This is an expensive and specialized volume, beautifully illustrated and clearly if not always accurately written. From the point of view of a nonradiologist it is difficult to understand for whom this volume was intended. Medical students and individuals not in the field of pediatrics have little need of such a volume; pediatricians and radiologists have recourse to the giant Bible of pediatric radiology by the grand master Caffey. For example: Chapter 1 is not useful to the pediatrician or general practitioner and less than useful to the medical student, although the anatomy is beautifully illustrated. Chapter 2, perhaps, should be a simple statement of techniques, vocabulary positions and definitions in the field. The average student or resident will have little recourse to purchase more than one radiology text, if any. The brief explanations of some of the diseases illustrated are often not only not valuable but ridiculous in terms