Gonadoblastoma: clinicopathologic correlation in six patients

Six patients with a total of nine gonadoblastomas are presented; three--and possibly a fourth--had dysgerminomatous overgrowth which was massive in two patients. Calcification detected by abdominal films was present in three sufficient for preoperative diagnosis. All patients were found to have a Y stem line on peripheral leukocyte chromosome cultures except one patient, who had a 46 XX/45 XO karyotype. She was found to have Y chromatin bodies in the germ cells of her tumor which was in a normal ovary found at exploration for an ectopic pregnancy. Three were found in virilized phenotypic females investigated for amenorrhea, and two for therapy of pelvic masses due to dysgerminomatous overgrowth. Y chromatin studies are reported on gonadal tissue.     

The design and implementation of an interactive data analysis package for a process computer

The paper highlights the requirement for a comprehensive program suite to facilitate data analysis. An attempt is made to integrate all the normal routines encountered in a scientific data processing environment into one package. Addition of new algorithms to the package is simplified by avoiding duplication of data handling and display segments, and by the chaining of existing options. The applications of the suite are illustrated using field derived data.     

Messenger RNA for renal phosphoenolpyruvate carboxykinase (GTP). Its translation in a heterologous cell-free system and its regulation by glucocorticoids and by changes in acid-base balance

A translational assay was used to measure the level of mRNA coding for phosphoenolpyruvate carboxykinase (GTP) (EC 4.1.1.32) in the rat kidney in various conditions in which the enzyme is induced. RNA extracted from whole kidneys was chromatographed on oligo(dT)-cellulose to select poly(A)-containing RNA. This crude mRNA preparation was able to stimulate amino acid incorporation into protein in a cell-free system containing an extract of wheat germ. Phosphoenolpyruvate carboxykinase could be detected among the polypeptides synthesized and quantitated by immunoprecipitation with a monospecific antibody followed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. The amount of enzyme synthesized was proportional to the quantity of RNA added. The level of mRNA coding for phosphoenolpyruvate carboxykinase is increased 3-fold 6 h after triamcinolone injection. Translatable enzyme mRNA also increases 3-fold within 6 h of the onset of metabolic acidosis caused by an ammonium chloride load. In both cases, the increase in functional mRNA is commensurate with the stimulation of enzyme synthesis measured in vivo. Glucocorticoid administration and acidosis cause additive increases in the level of translatable phosphoenolpyruvate carboxykinase mRNA. The inductive effect of acidosis is preserved in the absence of the adrenals, hypophysis, thyroid, and parathyroids.     

Self-selection of dietary protein and energy by broilers grown under a tropical climate: adaptation when exposed to choice feeding at different ages

PURPOSE: To describe the clinical findings of an autosomal dominant macular dystrophy in a family of Mayan Indian ancestry in Belize, Central America, and to determine its molecular genetic relationship with the original North Carolinian family. METHODS: We performed comprehensive ophthalmic examinations on 56 members of a single family living in Chicago, Illinois, and Belize, Central America. Fundus photography and fluorescein angiography were performed on 17 affected subjects and six affected family members were serially examined over a 12-year period. Blood was collected from 26 individuals, and DNA was extracted for genotyping. Two-point linkage, multipoint linkage, and haplotype analysis was performed. RESULTS: In 17 affected individuals, the clinical features were consistent with the diagnosis of North Carolina macular dystrophy. Multipoint linkage analysis generated a peak lod score of 5.6 in the MCDR1 region. The haplotype associated with the disease was, however, different from that of the original North Carolinian family. CONCLUSIONS: This family has an autosomal dominant macular dystrophy that is clinically indistinguishable from North Carolina macular dystrophy (MCDR1). Our findings indicate that the mutated gene in this Belizean family maps precisely to the same region as that of the North Carolina macular dystrophy (MCDR1) locus. This study provides evidence that MCDR1 occurs in various ethnic groups and that there is no evidence of genetic heterogeneity.     

Centrally infused galanin-(1-15) but not galanin-(1-29) reduces the baroreceptor reflex sensitivity in the rat

It has been demonstrated previously that central administration of the N-terminal galanin fragment (1-15) elicits hypertension and tachycardia and antagonizes the hypotensive effect of the parent molecule galanin-(1-29). In order to further clarify the role of galanin in central cardiovascular control, the possible modulation of the baroreceptor reflex by both galanin molecules has been studied. Different groups of rats were injected in the lateral ventricle with subthreshold doses of galanin-(1-15) (0.1 nmol/rat, or 0.3 nmol/rat), with subthreshold doses of galanin-(1-29) (0.1 nmol/rat, and 0.3 nmol/rat) or with an effective dose of galanin-(1-29) (3.0 nmol/rat). The baroreceptor reflex was elicited by intravenous injections of different doses of L-phenylephrine before and after the intraventricular administration of galanin peptides. The changes of the bradycardic responses after galanin peptide injections as well as the modifications of the baroreceptor reflex sensitivity were evaluated. Intraventricular injections of galanin-(1-15) significantly inhibited the reflex bradycardia elicited by intravenous L-phenylephrine and thus decreased the baroreceptor sensitivity. However, neither subthreshold doses of galanin-(1-29) nor its effective dose were able to modulate these cardiovascular responses. From these data it may be suggested that the galanin fragment (1-15) plays a more important role in central cardiovascular regulation than galanin-(1-29), possibly acting on a specific receptor subtype which exclusively recognizes N-terminal fragments of galanin, and exists on cardiovascular areas of the central nervous system.     

Rhinomanometry, sinus CT-scan and allergy testing in the diagnostic assessment of chronic nasal obstruction

In order to assess how effective a combination of diagnostic methods, each addressing specific aetiopathogenic aspects, would be in uncovering the cause of common chronic nasal obstruction, we evaluated 45 consecutive adult subjects. They were submitted to rhinomanometry testing, sinus CT-scans and RASTs to prevalent allergens. Most, but not all, patients ended up showing abnormal results in at least one of the diagnostic procedures. Sinus pathology was, by far, the most frequent diagnosis, while allergy took second place, with a number of atopic subjects displaying sinusitis as well. On the other hand, septal deviations with a significant effect on nasal resistance were only seldom found to be the cause of chronic nasal obstruction.     

Phenylalanine and tyrosine metabolism in neonates receiving parenteral nutrition differing in pattern of amino acids

Tyrosine is considered to be an indispensable dietary amino acid in the neonate, yet achieving adequate parenteral tyrosine intake is difficult due to its poor solubility. Increasing the supply of phenylalanine is the most common means of compensating for low tyrosine levels. Unfortunately, plasma phenylalanine concentrations are sometimes elevated in infants receiving high phenylalanine intake. This led us to study the phenylalanine and tyrosine metabolism in 16 neonates randomized to receive total parenteral nutrition with either a high or a moderate phenylalanine-containing amino acid solution. A primed, 24-h continuous stable isotope infusion of L-[1-13C]phenylalanine and L-[3,3-2H2]tyrosine was given to enable the measurement of phenylalanine and tyrosine kinetics. Results demonstrated that 1) phenylalanine hydroxylation was significantly greater in infants receiving high phenylalanine, 2) phenylalanine oxidation and percent dose oxidized was also significantly greater in infants receiving high phenylalanine, 3) apparent phenylalanine retention was greater in neonates receiving high phenylalanine, and 4) alternate catabolites of phenylalanine and tyrosine metabolism were significantly greater in infants receiving high phenylalanine compared with moderate phenylalanine. We conclude that neonates respond to increased parenteral phenylalanine intake by increasing their hydroxylation and oxidation rates. The greater oxidation of phenylalanine in infants receiving high phenylalanine in conjunction with the urinary excretion of alternate catabolites of phenylalanine and tyrosine suggests that the high phenylalanine intake may be in excess of needs. However, the lower apparent phenylalanine retention observed in infants receiving moderate phenylalanine suggests that the total aromatic amino acid level of moderate phenylalanine may be deficient for neonatal needs.