Biomedical subjects
Publications and source records attributed to H Isaacs.
Five patients with an autosomally recessively transmitted distal myopathy were investigated. Of these, three belonged to a single sibship. Studies included electromyography, histological examination of muscle tissue, histochemical, electron microscopical, and biochemical analyses. One of the cases resembled the Nonaka form while the others were regarded as expressions of the commoner variety of recessive distal dystrophy.
Lipoblastoma and lipoblastomatosis are rare examples of benign mesenchymal tumors that exhibit a tendency to invade locally but not to metastasize. The tumors are found primarily in children less than 5 years of age and can arise almost anywhere within the soft tissues. The rate of growth is variable and has no bearing on prognosis, which is excellent in the majority of cases. The experience at Childrens Hospital of Los Angeles with six children (3 males, 3 females) having these tumors is described. There was no instance of recurrence after surgical removal of the tumors, with follow-up periods ranging from 3 months to 5 years. Histologic appearance and outcome were similar in all patients, and there was no relationship between histologic appearance and prognosis. Complete local excision without radical mutilating resection is the treatment of choice.
A patient suffering with myasthenia gravis was subjected to muscle biopsy of the deltoid and subsequently of the pectoralis muscle. Electron microscopic examination of the muscles revealed the scattered presence of Z-lines that were curiously orientated diagonally across the I band. This appears to be a coincidental finding, the significance of which is unknown and unreported at this time.
In this paper female non-identical twins of a known Duchenne carrier are presented; one has typical features and the anticipated progression of Duchenne dystrophy, the other appears to be normal. In addition, two female children with Duchenne-like dystrophy are discussed. These cases show no evidence of translocation or mosaicism and offer an opportunity to reappraise the genetics of Duchenne dystrophy with specific regard to females. The subjects have been fully investigated, and in Case 3 the glycolytic enzymes and mitochondrial energy-producing capacity were also studied.
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Fifty-one cases of congenital and neonatal malignant tumors were collected from the Children's Hospital of Los Angeles Department of Pathology files and reviewed. The study covered a 28-year period, 1958-1985. Thirty (59%) of the patients died. The types, incidence, clinical features, and behavior of neoplasms occurring in the neonate were different from those seen in older children and adolescents. Moreover, the response to therapy was also dissimilar. Leukemia and neuroblastoma were the most frequent malignancies and were responsible also for the largest number of deaths.
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The mechanism of the excretion of 67 Ga-N-succinyldesferrioxamine B (SDF) was investigated in five healthy dogs. Comparison of the SDF clearance rates for whole blood and plasma as well as SDF renograms with those of 131 I-o-iodohippuric acid (OIH) and 111In-diethylenetriamine-pentaacetic acid (DTPA) revealed that SDF is cleared by glomerular filtration and not by an active tubular transport mechanism.
We have observed the development of chronic inflammatory bowel disease, indistinguishable from Crohn disease, in two boys with glycogen storage disease type Ib (GSD-Ib). A chance association of these diseases in two patients is unlikely. Studies of their neutrophils showed severe chronic neutropenia (mean absolute granulocyte counts of less than 500 cells/microliter) and markedly deficient chemotactic response (less than 5% of reference values) in the patients with GSD-Ib and normal neutrophil values in four patients with glycogen storage disease type Ia (GSD-Ia). Monocyte counts and responses to chemotactic stimulation were normal in both GSD-Ia and GSD-Ib. Chronic inflammatory bowel disease appears to be associated with GSD-Ib, and neutrophil abnormalities may be involved in the pathogenesis of the bowel inflammation.
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There is no single, simple diagnostic test available to enable identification of malignant hyperthermia (MH) susceptible individuals. Recently, two novel low-molecular-weight proteins (15,000 daltons and 13,500 daltons) that were not present in normal muscle were identified in MH muscle and it was felt that this might eventually be of assistance in diagnosing MH. The authors of this report have been unable to verify these results. Polyacrylamide gel electrophoresis of the soluble proteins from muscle of four MH-susceptible and four normal individuals showed no differences in the electrophoretic fractionation patterns. Therefore, the authors conclude that the differences in protein composition previously reported in MH muscle are not characteristic of this syndrome.
An adult patient with lysosomal acid alpha-glucosidase deficiency was fully investigated, and then placed on various forms of therapy with favourable response to a high protein, low carbohydrate diet. The rationale for the employment of this therapy, the problem of acid maltase deficiency and the relationship to weakness and glycogenosome formation with accumulation or otherwise of glycogen within the muscle fibres is discussed.
Primary bone tumors in early childhood are uncommon, and the incidence of malignancy in the 1st decade of life has not been evaluated adequately in the literature. For this reason, we conducted a retrospective review of 268 biopsies of the bone in 249 patients who were less than 10 years of age. Benign tumors were found much more frequently than malignant lesions. Osteochondroma and histiocytosis X were the most common lesions. The incidence of several benign lesions in our series was deceptively low, as many lesions showed typical radiographic findings, precluding the need for biopsy or excision. Of 41 primary malignant bone tumors, Ewing sarcoma was slightly more common than osteosarcoma. The rib was the most frequent site of the former; the distal femur, of the latter.
Twenty-one patients with bilateral Wilms' tumor are reviewed and the details of diagnosis, therapy, and survival presented. All patients had an abdominal mass at the time of diagnosis. Associated findings included hypertension, aniridia, and genitourinary anomalies. Favorable histologic features were found in all simultaneously occurring tumors and in the initial tumor in nonsimultaneous tumors. Eleven of the 18 patients with simultaneously occurring tumors survived for at least 2 years, for an overall 2-year survival rate of 61%, which was similar to the 2-year survival rate of 60% found in a review of 61 other simultaneously occurring bilateral Wilms' tumors reported in the literature since 1971. Two "front-end" factors that affected prognosis were the patient's age and the stage of the most advanced tumor at the time of diagnosis. A significantly better survival was found in children whose tumor was diagnosed before the age of 2 years and in patients who had Stage I or II disease in the most advanced tumor, as compared with those who had Stage III or IV disease. The overall survival rate in this series and in the literature review is much poorer than that reported for bilateral Wilms' tumor in the National Wilm's Tumor Study; some possible reasons for this are given. The authors' current approach to diagnosis and therapy is reviewed.
This paper reports the relationship between serum cholesterol level and hepatoblastoma in nine patients. Four of the nine patients had a high (417-544 mg%) serum cholesterol. All of these patients were less than one year of age and had tumors of the epithelial type. Three of the infants died soon after being diagnosed. Three patients had a moderately elevated serum cholesterol (206-249mg%). One underwent primary hepatic resection. Two had nonresectable tumors that became resectable after chemotherapy. One died secondary to pulmonary metastases. The remaining two patients had a normal serum cholesterol level prior to treatment. Both patients had hepatic resection after chemotherapy and had no evidence of increased cholesterol postoperatively and are alive six years after diagnosis. From these data, it is suggested that the pretreatment level of serum cholesterol may be of prognostic significance in infants and children with hepatoblastoma.
One hundred ten congenital and neonatal tumors encompassing a 25-year period are described and compared with similar published cases. Forty percent are classified as histologically malignant, and 65% of neonates with malignancies died. The types, frequency, and clinical features of neoplasms encountered in the perinatal period are markedly different from those observed in older children and adolescents. Their biological behavior and response to therapy are also dissimilar. Leukemia was responsible for the largest number of deaths followed by neuroblastoma and brain tumors.
Sixty-three patients (15 months to 17 years of age) with ovarian tumors were seen. Fifty-six patients had germ cell tumors and 7 epithelial tumors, 6 patients had bilateral tumors, 47 patients had teratomas (41 benign, 3 with embryonic tissue, and 3 malignant), 6 germinomas, 1 endodermal sinus tumor, and 2 mixed germ cell tumors. Of the patients with epithelial tumors, six had cystadenomas and one cystadenocarcinoma. Abdominal pain was the most common symptom, and an abdominal mass the most common sign. A calcification on abdominal films was seen in 29 patients with benign teratoma. At surgery, the opposite ovary was bivalved or biopsied in 31 patients with benign tumors. Two patients had teratomas burried in the ovarian tissue. Among 47 patients with benign tumors, 37 have remained well after the operation and 10 were lost to follow-up. Two girls with embryonic teratoma are well 71 and 19 months after diagnosis but the third died with embryonal carcinoma. Of the 13 patients with malignant tumors, 8 are alive disease free 4 1/2 to 17 years after diagnosis, 4 are dead, and 1 is lost to follow-up (disease free 15 months after diagnosis).