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Biomedical subjects

J Rutledge

Publications and source records attributed to J Rutledge.

34 records · Page 2Linked to original sources

Sternal malformation/vascular dysplasia association.

Sternal defects associated with superficial craniofacial vascular lesions are rare. We report on two additional patients with a sternal cleft and cutaneous, craniofacial hemangiomata to emphasize that this unusual combination of findings represents a recognizable sternal malformation/vascular dysplasia association. In addition, internal vascular lesions were also identified in these individuals, in one instance involving the upper respiratory tract and in the other the viscera. Although the pathogenesis of these findings is unclear, an early disturbance affecting midline mesodermal structures leading to lack of complete fusion of lateral sternal bands and overlying cutaneous tissue, or deficient formation of a proposed medioventral unpaired structure which may be involved in the formation of the sternum, and persistence and proliferation of midline angioblastic tissue may be possible mechanisms during the sixth to ninth gestational weeks. To date, all but one of the 15 known cases have been sporadic and no teratogen has been identified as a cause for these clinical manifestations. The presence of this association should signal the need to search for potentially life-threatening internal hemangiomata.

Adult

Persistent hypertransaminasemia as the presenting finding of childhood muscle disease.

Four children with isolated, persistent elevations of serum transaminases were investigated for hepatic disease and followed for 4 to 24 months before serum creatine kinase determinations were obtained and found to be markedly elevated. Evidence of muscle disease was obtained by close questioning, retrospectively, and mild abnormalities were found on physical examination. Review of laboratory tests in our center for 6 months revealed 30 additional cases of anicteric hypertransaminasemia (20% of those with elevated enzymes), only two of which were unexplained by the admitting diagnosis. Serum transaminase values are elevated in a variety of diseases of different organ systems. Creatine kinase determinations may provide the clue to the diagnosis of occult muscle disease in some children with unexplained anicteric hypertransaminasemia.

Adolescent

Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound.

Increased use of fetal ultrasound imaging by obstetricians has led to an increased rate of in utero detection of fetal malformations. Eight patients referred for level II sonography for confirmation of suspected fetal hydrocephalus were found to have affected fetuses. Examination of the resulting fetuses and infants revealed remarkable etiologic heterogeneity for the hydrocephalus. The risk for recurrence of hydrocephalus and other malformations in future offspring of these mothers varies from negligible to 25%. This experience emphasizes that there are many causes of fetal hydrocephalus and that careful diagnostic studies must be performed on any fetus or infant found to have hydrocephalus, so that accurate genetic counseling can be provided to the family.

Female

Chromosomal translocation involving the immunoglobulin kappa-chain and heavy-chain loci in a child with chronic lymphocytic leukemia.

Chronic lymphocytic leukemia is usually a monoclonal B-cell neoplasm that occurs almost exclusively in middle-aged and elderly adults. We observed a rapidly progressive case of the disease in a 10-year-old girl. The leukemic cells bore surface IgM and IgD immunoglobulins of the kappa-light-chain type. Karyotyping of the abnormal cells revealed an unusual translocation [t(2;14) (p13;q32)], with break points at or near the kappa-light-chain and heavy-chain gene loci. Translocations involving the immunoglobulin gene loci may be important in the pathogenesis of some cases of chronic lymphocytic leukemia, as they appear to be in Burkitt's lymphoma.

Child

Complementary combined captopril and terbutaline therapy in severe chronic congestive heart failure.

The hemodynamic effects of captopril (CPT) alone and in combination with the beta-adrenergic receptor agonist terbutaline (TBT) were evaluated in 10 patients with severe chronic congestive heart failure (CHF). The heart rate remained unchanged, while CPT lowered mean systemic blood pressure from 86 to 64 mm Hg (p less than 0.001) and decreased left ventricular filling pressure markedly from 27 to 19 mm Hg (p less than 0.001). The addition of TBT produced no further change in these variables (p greater than 0.05). Simultaneously, CPT augmented cardiac index (CI) from 2.1 to 2.9 L/min/m2 (p less than 0.001) and stroke index (SI) from 27 to 37 ml/beat/m2 (p less than 0.001). Concomitant CPT-TBT further raised CI to 3.2 L/min/m2 and SI to 40 ml/beat/m2 (both less than 0.001). Further, the CPT-effected decline in total systemic vascular resistance from 1577 to 841 dynes . sec . cm-5 (p less than 0.001) was not reduced additionally by CPT-TBT combination (p greater than 0.05). These results indicate than both CPT and TBT markedly augment cardiac function in CHF. Moreover, the salutary effects of the systemic vasodilator appear additive to the beneficial actions of the beta-adrenergic receptor agonist, thereby providing substantial augmentation of the function of the failing heart.

Adult

Is the CSF lactate measurement useful in the management of children with suspected bacterial meningitis?

The role of the cerebrospinal fluid lactate measurement was evaluated for the management of children with suspected bacterial meningitis. Although CSF lactate can be precisely measured, it provided no additional information over that which can be obtained from a CSF cell count. Reliance on the CSF lactate concentration alone would have increased the number of children being treated unnecessarily with antibiotics. There was neither clinical nor experimental evidence to suggest that the test should be used in the early diagnosis of meningitis. In patients with equivocal clinical and CSF findings, it failed to differentiate bacterial from nonbacterial infection. The data do not support the view that the measurement of CSF lactate has significant role in the management of children with suspected meningitis.

Adolescent

A genetic model for the inheritance of pituitary tumor susceptibility in F344 rats.

An 8-week period of continuous diethylstilbestrol (DES) treatment results in the development of pituitary tumors in 100% of male or female F344 rats. Similar treatment of Holtzman male or female rats results in a very low incidence of pituitary tumor development (2-6%). A series of crosses was performed between F344 and Holtzman rats to produce the F1 hybrid, the F2 generation, and the backcrosses of the F1 hybrid to either the F344 parent or the Holtzman parent. The incidence of DES-induced pituitary tumors was measured in these animals. The results indicate that pituitary tumor susceptibility does not result from the expression of genes that are simple dominant or recessive genes, since the tumor's incidence in the F1 hybrid is intermediate to that in the parental strains. However, the data are compatible with the involvement of a small number of genetic loci. We present a genetic model involving three independently segregating loci which agrees reasonably well with the experimental results. In the model, the Holtzman strain has normal alleles at these loci which prevent uncontrolled proliferation. The highly inbred F344 strain is homozygous mutant at these three loci and in unable to control DES-induced proliferation.

Animals

Absence of immunoperoxidase staining for myoglobin in the malignant rhabdoid tumor of the kidney.

Malignant rhabdoid tumor of the kidney, a clinically and pathologically unique tumor of early childhood, has been recently distinguished from nephroblastoma. Skeletal muscle histogenesis has been considered because of its aggressive course and histologic resemblance to rhabdomyosarcoma. Application of an indirect immunoperoxidase technique for myoglobin, an early marker of myogenesis, failed to show the protein in four malignant rhabdoid tumors of kidney. This substantiates the lack of ultrastructural evidence of skeletal muscle differentiation in these tumors.

Child