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Biomedical subjects

C Ferrando

Publications and source records attributed to C Ferrando.

At least 19 recordsLinked to original sources

Gigant carcinosarcoma.

We present a case with gigantic carcinosarcoma (the largest described to date, diameter of 20.5 cm), located in the right upper lobe, in which the discordance between the brief clinical course with limited symptoms and its large size were remarkable. Preoperative diagnosis by bronchial biopsy, as used to be the case in this malignancy, was incorrect (epidermoid), and the define histological characterization was made by thoracotomy. The controversy about pathology, diagnosis and treatment of the carcinosarcoma is discussed.

Biopsy↗

Factors determining gastrointestinal transit time of several markers in the domestic fowl.

The aim of this study was to find out how marker characteristics could affect digestive transit time in Gallus gallus. One soluble marker, Cr-EDTA, and two insoluble markers, Cr2O3 and chromium-mordanted plant cells of two sizes, were used. Three- to six-week-old chickens were killed in series after the oral administration of the markers at intervals of 0, 0.5, 1, 2, 3, 5, 7, and 9 h. The amount of chromium in each digestive segment was determined by atomic absorption. There were some differences in the initial distribution of markers; whereas almost the total amount of the chromium-mordanted rice husk of the largest size was found in the crop at time 0, less than half of the Cr-EDTA was found. Marker emptying out of the crop was fast and not related to either the type or size. In contrast, the emptying rate of the gizzard depended on marker particle size. As far as the caeca were concerned, the ileocaecal junction allowed the passage of soluble Cr-EDTA whereas solid markers were impeded (Cr2O3) or not allowed to pass through at all (vegetable fibre of any size). It can be concluded that marker selection is of major importance to transit time studies in chickens, since its characteristics can determine transit time in an absolute way.

Animals↗

Age influence on digestive transit time of particulate and soluble markers in broiler chickens.

The gastrointestinal transit-time of two markers, Cr-mordanted bran, a solid marker, and Cr-EDTA, a soluble marker, have been studied in chickens (Gallus gallus) at 1, 2, and 3 wk of age. Mean retention time of the particular marker decreased as chicks grew. The excretion of Cr-EDTA took longer as birds grew; this soluble marker was retained in the ceca of the fowl. It was postulated that the ceca are not fully functional until total resorption of the yolk sac content occurs.

Aging↗

Study of the rate of passage of food with chromium-mordanted plant cells in chickens (Gallus gallus).

Thirty broilers 8-10 weeks old were used to study the rate of food passage in chickens. Wheat bran and rice husks of three different sizes: more than 2 mm, between 1 and 1.5 mm, and less than 0.5 mm, mordanted with chromium, were used as markers. The suitability of these markers to study the rate of food passage in chickens and the possible influence of the size and hardness of the particle on the retention time was the objective of this study. Both T1, the time of first appearance of the marker, and Tm, the mean retention time, have been evaluated. Tm was a better parameter than T1 for studying transit time. Tm was longer with the biggest particles, especially with rice husk. The gizzard, with its grinding activity and pylorus, a selector of particle size, seems to be the transit regulator for solid particles in chickens. No chromium was found in the caecal contents of any case.

Animal Nutritional Physiological Phenomena↗

On the pharmacological actions of a diuretic, fenquizone, with particular reference to its site of action.

The pharmacological actions of a diuretic drug, fenquizone have been investigated and its effects compared with well characterized diuretics in rats, mice and rabbits. Changes in sodium and potassium excretion and urine volume were similar in magnitude and duration to those of the thiazide diuretics over dose range 0.05-100 mg kg-1. Free water clearance in rabbits was decreased indicating an action at the cortical diluting site in the nephron and since free water reabsorption was relatively unaffected it appears unlikely to have actions at other sites. Calcium and phosphate excretion studies also suggested that the predominant effects are those occurring at the cortical diluting segment of the nephron. Additional parameters not affected by the drug were blood flow to the cortex and medulla of the kidney (and other major organs), plasma glucose concentration and plasma urate concentration.

Animals↗

Detection of fragile X non-penetrant males by DNA marker analysis.

Segregation analysis of the fragile-X [fra(X)] syndrome uncovered an unexpected 20% excess of normal males among sibships by Sherman et al. (Sherman SL, Morton NE, Jacobs PA, Turner G [1984]. Ann Hum Genet 48:21-37; Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Neilsen KB, Partington MW, Sutherland GR, Turner G, Watson M [1985]: Hum Genet 63:289-299). This result predicts that about 17% (1/6) of normal sons of carrier fra(X) females will be non-penetrant. A way to test this prediction is by DNA markers. We analyzed DNA samples from 100 families with a set of flanking DNA markers linked to the fra(X) locus. Ten of 51 (19.6%) normal brothers, doubly informative and non-recombinant for flanking DNA markers, were found to be non-penetrant males. This result closely confirms the predictions of the segregation analysis indicating that about 1/6 of normal brothers are non-penetrant carrier males. The use of DNA markers to identify non-penetrant brothers and grandfathers can help to clarify the inheritance of the fra(X) mutation and be of considerable clinical usefulness. Using DNA markers, it was possible to study grandparental transmission in 71 of the families. In 39 families, DNA analysis confirmed the apparent pattern of inheritance. In 18 families, the grandparents had a single daughter with affected children. Of these, a new mutation at the time of their daughters' conception was possible in 15 and quite likely in 3. In 14 families with 2 or more daughters with affected fra(X) offspring, the grandparents had no affected sons or other relatives known to be positive for fra(X).(ABSTRACT TRUNCATED AT 250 WORDS)

DNA↗

Linkage analysis of the fragile X syndrome using a new DNA marker U6.2 defining locus DXS304.

A new RFLP marker U6.2 defining the locus DXS304 was recently mapped to the distal long arm of the X chromosome. In the present study we report the results of genetic linkage analysis of 13 fragile X [fra(X)] families that were informative for the new marker. Analysis of the recombinants for F9-FRAXA, DXS105-FRAXA, DXS98-FRAXA, DXS52-FRAXA, DXS15-FRAXA, and F8C-FRAXA, places DXS304 distal and near to the FRAXA locus. Combined with results from previous studies, our results support the order Xcen.-F9-DXS105-DXS98-FRAXA-DXS304-DXS5 2-DXS15-F8C-Xqter. Close linkage was observed between DXS304 and the disease locus with a peak lod score of 5.12 at theta = 0.04 from the present study and, with a peak lod score of 17.45 at theta = 0.035 when our data are combined with published data from 2 other studies. The present study confirms that U6.2 is useful for prenatal diagnosis and carrier testing in families affected by fra(X) syndrome.

DNA Probes↗

Linkage in fragile X families of three distal flanking markers: ST14, DX13, and F8.

The use of linked DNA markers and linkage analysis in the fragile X [fra(X)] syndrome allows for improved genetic counseling and prenatal diagnosis. In order to provide the most accurate information, it is important to determine the order and location and position of flanking markers. Conflicting results have been reported for the order of 3 DNA markers distal to the fra(X) locus. We analyzed the linkage relationships of the distal markers ST14 (DXS52), DX13 (DXS15), and F8 (F8C) in 102 fra(X) families. The results indicated that the 3 DNA markers were closely linked to one another and mapped approximately 11 to 15% recombination units away from the fra(X) locus. The most likely order was fra(X)-DXS52-DXS15-F8. The order fra(X)-DXS52-F8 and 728 times more likely than the order fra(X)-F8-DXS52. One family showed a probable double recombinant: in one individual there was recombination between fra(X)-DXS52 and between DXS52-F8. The low probability of this occurring, 0.3%, raises the possibility of an alternate chromosome arrangement or an unusual recombinant mechanism in some individuals.

Chromosome Mapping↗

Cytogenetically negative, linkage positive "fragile X" syndrome.

We investigated the family of a 3-year-old boy with manifestations of the Martin-Bell syndrome (MBS). His 17-year-old cousin had classic manifestations of MBS and was fragile X [fra(X)] positive. The 3-year-old boy was fra(X) negative. Linkage analysis with probes flanking the fra(X) region indicated that these cousins had the same X chromosome inherited from a normal grandfather. The DNA and cytogenetic analyses suggest that limitations in the ability to detect the fra(X) mutation cytogenetically may be responsible for fra(X)-negative MBS; or, alternatively, that a crossover occurred between a locus determining the MBS phenotype and one determining fra(X) expression.

Adolescent↗