Biomedical subjects

S J Israels

Publications and source records attributed to S J Israels.

39 records · Page 3Linked to original sources

PubMed1980

Traumatic aneurysm of the popliteal artery due to an osteochondroma of the femur.

The authors report the case of a 51-year-old man who had a false aneurysm of the popliteal artery caused by erosion by an adjacent osteochrondroma of the femur. The osteochondroma was removed and the artery repaired by end-to-end anastomosis. Seventeen similar cases, which have been recorded in the past 15 years, are reviewed. These reports emphasize the importance of surgical repair to avoid permanent ischemic damage to the leg and foot.

Aneurysm↗

PubMedDate not supplied

Familial neuroblastoma: report of a kindred with later age at diagnosis.

PURPOSE: To describe the clinical and biologic features of neuroblastoma (NB) in two siblings and their maternal second cousin. PATIENTS AND METHODS: NB was diagnosed in the siblings at 2 1/2 (patient 2) and 5 (patient 3) years of age. NB was diagnosed in their maternal second cousin (patient 1) when she was 7 years old. Standard clinical and biological data, tumor karyotype, and tumor allelotype at select loci were obtained. RESULTS: Patient 1 had International Neuroblastoma Staging System (INSS) stage 4 NB and unfavorable histology but no evidence of MYCN amplification; she died from complications of autologous bone marrow transplantation in second remission. Patient 2 had INSS stage 4 NB with unfavorable histology but no MYCN amplification; her disease recurred 39 months after completing therapy. Patient 3 had INSS stage 1 NB with favorable biologic features; he was treated with surgical excision and remains free of disease. CONCLUSIONS: Familial NB may occur at a later age than predicted by the tumor suppressor gene model of inherited cancer. This report further emphasizes the clinical and biological heterogeneity of familial NB.

Age of Onset↗

PubMedDate not supplied

Alpha1-antitrypsin deficiency with fatal intracranial hemorrhage in a newborn.

A 4-week-old boy had a fatal intracranial hemorrhage resulting from vitamin K deficiency. The infant had received no vitamin K prophylaxis and was exclusively breastfed. At autopsy, examination of the liver showed cholestasis and fibrosis. DNA was isolated from a blood spot on a Gutherie sample card obtained from the infant for routine metabolic screening. This DNA was used for alpha1-antitrypsin genotyping studies. Genotyping studies identified homozygosity for the point mutation 9989G-->A, confirming a diagnosis of alpha1-antitrypsin deficiency (ZZ phenotype), and resulted in appropriate screening of siblings born after this child's death. Alpha1-antitrypsin deficiency should be considered in the differential diagnosis of infants with late hemorrhagic disease of the newborn. Use of blood from the metabolic screening card as a source of DNA allowed confirmation of this diagnosis after the infant's death.

Brain↗