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Biomedical subjects

A Zimran

Publications and source records attributed to A Zimran.

120 records · Page 7Linked to original sources
PubMed1985

Chronic cutaneous polyarteritis nodosa simulating recurrent thrombophlebitis.

A 30-year-old man who had 12 repeated hospital admissions within a period of 7 years for localized pain and swelling of the extremities is described. Excision biopsy of several subcutaneous lesions revealed histologic changes typical of polyarteritis nodosa (PN). Systemic disease was excluded because of a normal testicular biopsy, negative abdominal angiogram, and the lack of evidence for renal or other visceral involvement. Response to steroid therapy was excellent. Cutaneous PN is a distinct subset of polyarteritis with a chronic course and excellent prognosis. The present case underlines the need for a greater awareness, and for considering early biopsy of suspected lesions in patients with multiple episodes of apparent superficial thrombophlebitis.

Adult↗
PubMed1984

Recurrent Neisseria meningitidis bacteremia. Association with deficiency of the eighth component of complement (C8) in a Sephardic Jewish family.

A 24-year-old man had repeated episodes of meningococcal meningitis. Selective deficiency of the eighth component of complement (C8) was demonstrated in the patient, his twin brother, and in one of five siblings. As the parents were first cousins of normal phenotype, this pattern is suggestive of an autosomal recessive heredity. The present report brings the total number of patients given the diagnosis of C8 deficiency to 14, and calls attention to the existence of this condition in Jews of Sephardic (Mediterranean) origin.

Adult↗
PubMed1983

The changing pattern of megaloblastic anemia: megaloblastic anemia in Israel.

The causes of megaloblastic anemia were studied in a survey of patients admitted to six Israeli hospitals over a period of 15 yr. Among the 203 patients identified, 69% had pernicious anemia, 12% had gastrointestinal disease, 9% had primary nutritional deficiency of whom only 1% were associated with pregnancy, and 7% had selective vitamin B12 malabsorption with albuminuria. Comparison with previously published surveys showed, that in contrast with earlier studies where primary nutritional deficiency was the cause of megaloblastic anemia in about 70% of cases and pernicious anemia in only 20%, in more recent studies the proportion of cases with primary nutritional anemia in general and those associated with pregnancy in particular was much lower. This is most probably the result of improved standards of living and a national program of preventive folate supplementation at maternity clinics. A potential hazard of such preventive programs is the aggravation of neurological complications in patients with undiagnosed vitamin B12 deficiency. Early recognition of pernicious anemia and other forms of selective B12 malabsorption is a new challenge created by the changing pattern of megaloblastic anemias.

Adolescent↗
PubMedDate not supplied

Viral infections and phenotypic heterogeneity in Gaucher disease.

Gaucher disease, the most common lysosomal storage disorder, is remarkable for its tremendous phenotypic heterogeneity even among patients with the same genotype. Beyond mutations at the 1q21 locus, there may be other genetic and environmental factors that impact on the natural course of Gaucher disease and indeed may trigger symptoms and signs. Among candidate events are viral infections such as the Epstein-Barr virus (EBV) or cytomegalovirus (CMV). The purpose of this study was to ascertain if indeed prior infection with EBV or CMV in patients homozygous for the most common mutation, N370S (1226G), is predictive of a more severe phenotype. Evidence for an EBV virus was IgG and IgM antibodies to early antigen and IgG anti-EBNA. For CMV infection, IgG and IgM antibodies were sought. This study failed to demonstrate any correlation between prior EBV or CMV infection and clinical course of Gaucher disease in patients homozygous for the N370S (1226G) mutation. The only positive finding was a higher level of anti-EBNA antibodies among patients with moderate/severe disease. In conclusion, other than a small subset of patients who showed a pattern comparable to immunosuppression, there was no association between severity of Gaucher disease and prior EBV or CMV infection.

Cytomegalovirus Infections↗
PubMedDate not supplied

Chitotriosidase deficiency in survivors of Candida sepsis.

The existence of chitotriosidase, a human chitinolytic enzyme, hydrolyzes artificial chitotrioside substrates, but its specific function in humans is unknown. The homologous chitinases have an anti-fungal action in plants. In patients with Gaucher disease, chitotriosidase activity is markedly elevated and is a marker for response to specific treatment. In all populations, 6% of individuals are enzyme deficient but completely healthy. It was hypothesized that chitotriosidase deficient persons may be more vulnerable to fungal infections. Thus, the objective of the study was to ascertain the prevalence of homozygosity for the mutation of chitotriosidase among survivors of Candida sepsis. The prevalence of homozygosity among survivors was similar to that in the normal population. Although the cohort is the largest of its kind, since only survivors were tested, further studies should include all patients with Candida sepsis for comparison of survival rates among deficient versus sufficient individuals, and thereby elucidate if this enzyme has an anti-fungal function in man. Several theories are considered to explain the results.

Adult↗
PubMedDate not supplied

The 1226G (N370S) Gaucher mutation among patients with Legg-Calve-Perthes disease.

Legg-Calve-Perthes disease (LCPD) is an avascular necrosis of the femoral head with an annual incidence of 5-15/100,000. The estimated incidence of Gaucher disease, a lysosomal recessive storage disease, is 1:850, with a carrier rate of 1:17.5 for the 1226G (N370S) mutation among Ashkenazi Jews in whom there is a predilection. Since clinical and radiological findings of avascular hip necrosis due to either Gaucher disease or LCPD may be indistinguishable, misdiagnosis may occur. The purpose of this study was to evaluate the incidence of 1226G Gaucher mutation in a cohort of radiologically confirmed LCPD patients (diagnosed 1986-2000) in Israel. Enzyme assay was performed for confirmation of affected versus carrier status in patients with the 1226G mutation. In all, 78 LCPD patients, 86% males, 51% with severe bone disease, were studied. Family history was negative for Gaucher disease. Ethnic origin was 39% Ashkenazi Jewish, 6% Arab, and 55% other ethnicities. One Ashkenazi Jewish LCPD patient was homozygous for the 1226G mutation, and 4 LCPD patients were carriers: 3 Ashkenazi Jewish and 1 Arab patient. The frequency of the 1226G mutation among the LCPD patients was increased relative to historical Ashkenazi Jewish Israeli controls (P = 0.01). Since Gaucher disease may be misdiagnosed as LCPD, glucocerebrosidase enzyme testing is recommended among Ashkenazi Jewish children diagnosed with LCPD.

Clinical Enzyme Tests↗