GENFILES: a computerized medical genetics information network. II. MEDGEN: the clinical genetics system

MEDGEN, a clinical genetics information storage and retrieval system, facilitates the handling of medical records for the central genetics clinic and satellite clinics conducted by the University of California, San Francisco. The system is part of the GENFILES genetics network, which handles all of the genetics data generated by a comprehensive medical genetics center. The clinical data stored on each patient include 1) diagnoses, which utilize McKusick catalog numbers as well as our own diagnostic codes; 2) relevant medical, gestational, and pregnancy history; 3) clinical manifestations (functional and structural); 4) karyotype information through a crosslink to the cytogenetics file; 5) ethnic origin of the patients; 6) physical status and sex of the patient; 7) laboratory studies, including results of metabolic tests; and 8) any additional remarks deemed necessary for complete understanding. The data, staff member attending, and physical location of each visit also are recorded.     

Expression of angiotensinogen mRNA and localization of angiotensin II and renin in peripheral adrenergic neurons in primary culture

Although the presence of a local renin-angiotensin system has been established in a number of tissues, evidence for the existence and expression of the components of the renin-angiotensin system in peripheral adrenergic neurons is still missing. Here we provide the results showing the expression of angiotensinogen mRNA and localization of renin and angiotensin II in primary cultured fetal pig superior cervical ganglion neurons but not in non-neuronal cells by in situ hybridization with biotinylated oligodeoxynucleotide probe and immunocytochemical approaches. Our confocal laser scanning microscopical results confirm that angiotensinogen mRNA is expressed in the renin containing neurons. These results, for the first time, provide direct evidence that peripheral adrenergic neurons are not only target cells of angiotensin, but are also a local angiotensin generating source.     

Craniofacial electromyogram activation response: another indicator of anesthetic depth

The female gametophyte is an absolutely essential structure for angiosperm reproduction. It produces the egg cell and central cell (which give rise to the embryo and endosperm, respectively) and mediates several reproductive processes including pollen tube guidance, fertilization, the induction of seed development, and perhaps also maternal control of embryo development. Although much has been learned about these processes at the cytological level, specific molecules mediating and controlling megagametogenesis and female gametophyte function have not been identified. A genetic approach to the identification of such molecules has been initiated in Arabidopsis and maize. Although genetic analyses are still in their infancy, mutations affecting female gametophyte function and specific steps of megagametogenesis have already been identified. Large-scale genetic screens aimed at identifying mutants affecting every step of megagametogenesis and female gametophyte function are in progress; the characterization of genes identified in these screens should go a long way toward defining the molecules that are required for female gametophyte development and function.     

Predictive validity of an injury score among high school basketball players

A number of strategies have been investigated in an attempt to identify those individuals most likely to be injured during participation in sports activity. One such strategy identified in the literature involved computing an "injury score" via a logistic regression equation using measures of structural symmetry to predict the likelihood of athletic injury. The purpose of this study was to investigate the predictive value of the injury score among high school basketball players. Following the establishment of reliability of measures, injury scores were calculated for 62 high school basketball players (34 females, 28 males) before the start of the season. Lower extremity injuries sustained while playing basketball were recorded throughout the season. The predictive value of the injury score equation was determined by calculating sensitivity, specificity, and positive and negative predictive values. The sensitivity and specificity were calculated to be 16.7% and 66.1%, respectively. The positive and negative predictive values were calculated to be 5.90% and 88.1%, respectively. These results indicate that the injury prediction score investigated was not a valid means of predicting injury in high school basketball players. Limitations, possible implications of these findings, and ideas for future related research are presented.