Biomedical subjects
Publications and source records attributed to J Israel.
Sacral agenesis can no longer be considered an uncommon disorder. The condition occurs often enough that the clinician should be alert to any signs that may suggest its presence in a newborn. This disease is frequently associated with other anomalies, especially those of musculoskeletal, GU and GI systems. Diagnosis--early diagnosis--is the key to prevention of permanent damage to the kidneys and urinary tract in patients with the disease.
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Intrasosseous hemangioma is a rare vascular malformation of bone infrequently described in the otolaryngologic literature. We report a case of this unusual tumor involving the frontal bone. Bone scan, computed tomographic (CT) scan, and histologic findings are illustrated. Differential diagnosis includes meningioma, eosinophilic granuloma, metastatic carcinoma, and other bony lesions. Treatment is complete surgical excision.
Currently, serum ferritin concentration is the best noninvasive estimator of liver iron content. This study investigated the ability of magnetic resonance imaging to determine hepatic iron concentration. Fisher rats were treated with either parenteral iron to increase levels of phlebotomy to lower them and achieved a wide range of liver iron concentrations. Rats were imaged using a clinical whole body scanner at 1.5 Tesla with a 15-cm Helmholtz surface coil and a 23-cm field of view. The ratio of signal intensity of liver to skeletal muscle from images of the live intact rats correlated well with chemically measured iron concentration of the liver (r = -.89, p less than .0001, linear regression analysis). Transverse relaxation rates (1/calculated T2 relaxation times) also correlated with liver iron content (r = .66, p less than .0001). The observation of a significant correlation between liver iron content and both signal intensities and T2 relaxation rates, obtained by magnetic resonance imaging, may have considerable clinical relevance. If adapted to humans, this technique would have obvious applications in the diagnosis and management of diseases associated with iron overload as well as in the investigation of the overall role of iron in various human liver diseases.
Significant alcohol ingestion during pregnancy can cause a spectrum of malformation of various degrees of severity in offspring. The full expression of "fetal alcohol syndrome" includes reduced growth, facial anomalies, and mental retardation. Affected infants are usually of near-term gestation, but small in weight and length. They continue to exhibit decreased growth postnatally. Mental retardation appears to be related to the degree of dysmorphic severity of appearance. It is primarily caused by central nervous system pathology rather than social environment. The most prevalent ophthalmologic finding in our series of a short horizontal palpebral fissure appears to be due primarily to a marked increased in intercanthal distances between the medial canthi (primary telecanthus) and to less extent mild displacement of the lateral canthi. Ptosis, often asymmetric, was noted in a number of patients. Comitant convergent strabismus was present in about 50% of our cases; a few had amblyopia. An important observation was the frequent and often high degree of myopia in these children. Low-incidence anomalies include corneal opacities (Peters anomaly in one), cataract, tortuosity of retinal vessels, and long eyelashes. Our findings plus many observations in the literature establish that children with fetal alcohol syndrome are at considerable risk for a variety of eye problems.
Anterior segment anomalies were noted in eight children diagnosed as having the fetal alcohol syndrome. Peters' and Axenfeld's anomalies were among the specific defects noted. Four children have maintained clear corneal grafts. A teratogenic action of alcohol during a critical period of development of anterior chamber structures is suggested as an etiologic factor. It is proposed that the varied types and severity of abnormalities noted might result from differences in blood alcohol levels, timing of the insult, and genetic background of the fetus. The observation of various types of malformations thought to share a similar pathogenesis lends additional support to the assumption that there is an interrelationship among these types of congenital segment pathology.
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