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Biomedical subjects

R Perelman

Publications and source records attributed to R Perelman.

At least 19 recordsLinked to original sources
PubMed1998

[Imerslund disease].

Explore the source record for details and available documents.

Diagnosis, Differential↗
PubMed1994

[Homozygote CB deficiency revealed by recurrent Neisseria meningitidis infections in an adolescent].

BACKGROUND: Meningococcal infections associated with late complement component deficiency are rarely severe and usually occur during adolescence and adulthood. We report severe manifestations in a boy in whom the first episode appeared early. CASE REPORT: A 14 year-old gypsy boy was admitted because of a febrile meningococcal meningitis that was complicated by a rapidly extensive and necrotic purpura, obnubilation and clotting abnormalities without hemodynamic anomalies. The patient was given symptomatic therapy and a 12-day course of antibiotics that resulted in rapid and complete recovery. Medical history of this patient showed that he had been admitted at the age of 3 years for a severe febrile purpura with septic shock and clotting abnormalities followed by rapid and complete recovery after symptomatic and antibiotic therapy. No germ had been then isolated. The complement system was studied 3 weeks after the second hospitalization: total hemolytic complement activity could not be detected and C2, C3 and C4 were normal. Examination of the terminal pathway-revealed total C8 deficiency. The patient received meningococcal vaccine and was discharged on oral penicillin prophylaxis. He remained healthy during the ensuing 4 years. CONCLUSIONS: Meningococcal infections associated with late complement component deficiency are generally uncomplicated but they remain potentially severe. Early screening for this late complement component deficiency should be considered after severe clinical manifestations.

Adolescent↗
PubMed1992

[Acute heart insufficiency in an 8-month-old infant presenting with hypocalcemia and Epstein-Barr virus infection: acute myocarditis? Or primary hypokinetic dilated cardiomyopathy?].

An eight-month-old was admitted for acute congestive heart failure with fever. The respective parts played by hypocalcemia (due to vitamin-D deficiency rickets) and acute Epstein-Barr virus infection are discussed. Hypocalcemia was sufficiently marked to induce heart failure per se but replenishment of calcium stores was followed by only partial improvement in cardiac manifestations. Initial management was difficult because of the risks associated with concomitant administration of calcium and digitalis. After eighteen months during which the patient's status remained stable, evaluation showed that clinical features were consistent with sequelae of acute viral myocarditis. The possibility of primary hypokinetic dilated cardiomyopathy was then considered. Esterified carnitine levels were found to be increased leading to further investigations which outruled mitochondrial cytopathy.

Acute Disease↗
PubMed1989

[Mitral valve prolapse and Willebrand disease. Study of 16 cases of Willebrand disease].

We studied mitral valve morphology and kinetics in 16 children aged 3 to 15 years with documented von Willebrand disease. Mitral valve prolapse was demonstrated in four cases (25%); this result is consistent with findings of similar studies in adults. This non-random association between mitral valve prolapse and von Willebrand disease, as well as embryologic evidence and reports of other conditions found in patients with von Willebrand disease, suggest that mesenchymal dysplasia is the underlying anomaly. Patients with von Willebrand disease and mitral valve prolapse may be at increased risk for cerebrovascular events.

Adolescent↗
PubMed1983

[Rothmund-Thompson syndrome with glaucoma. Endocrine study].

Two cases of Rothmund-Thomson syndrome in siblings are described. The elder patient, whose case was best documented and who was followed for several years, had the characteristic skin changes of poikiloderma congenitale with small stature and mental deficiency. Upon ophthalmologic examination, this patient was shown to have bilateral glaucoma which was treated surgically, while the cataract typically found in Rothmund-Thomson syndrome was lacking. Primary hypogonadism was confirmed by endocrinologic investigations; anterior pituitary hormones were normally released. With reference to this observation differential diagnosis is discussed; the medical literature is reviewed.

Abnormalities, Multiple↗
PubMed1983

[Purulent pericarditis with a subacute constrictive course. Apropos of a case. Review of the literature].

A case of purulent pericarditis due to Hemophilus influenzae is reported. In spite of management by antibiotics and pericardial drainage, the disease ran a subacute course towards pericardial constriction. Fifty-two previously reported cases are reviewed. The most important clinical and paraclinical features are analyzed. Emphasis is put on the factors which promote subacute pericardial constriction.

Anti-Bacterial Agents↗
PubMed1982

Complications of pregnancy and fetal development.

Although the outcome of pregnancy for women with diabetes mellitus has improved in recent years, the infant of the diabetic mother has an increased risk of major clinical problems, particularly in the early neonatal period. These include birth injury due to macrosomia, neonatal hypoglycemia, respiratory distress syndrome, and serious congenital anomalies. Because of the great difficulties encountered during attempts to investigate these problems in clinical research protocols, there is a continuing need to establish appropriate animal models of the diabetic pregnancy. Studies carried out over the past decade, primarily with chemically-induced diabetes have suggested techniques which might be useful. In general, the choice of the animal to be studied will depend on the hypotheses being addressed. For instance, small animals such as rabbits and rats made diabetic with streptozotocin have been successfully used for investigation of fetal lung development. Furthermore, the rat model has been helpful for evaluation of fetal anomalies associated with maldevelopment of the spine and central nervous system. Larger animals, such as the nonhuman primate, are more appropriate for studying placental function and amniotic fluid composition in diabetic pregnancies. The task group on pregnancy and fetal development recommends that animal models of diabetes mellitus be used for a more extensive hormonal and metabolic characterization of diabetic mothers during pregnancy, for investigation of placental physiology with respect to the transfer of substrates from mother to fetus, for systematic and comprehensive study of mechanisms controlling fetal lung development, and for delineation of the pathophysiology of neonatal hypoglycemia. It is further recommended that animal models of spontaneous diabetes such as the BB/W rat be used in future studies dealing with pregnancy and fetal development. Because females with spontaneous diabetes show reduced conception rates, there is a pressing need to enhance the fertility of these animals in order to intensify studies on fetal development.

Alloxan↗