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Biomedical subjects

L Crippa

Publications and source records attributed to L Crippa.

At least 19 recordsLinked to original sources

Leptospira interrogans serovar sejroe infection in a group of laboratory dogs.

Interstitial nephritis was seen histologically in 19 (59%) out of 32 pure-breed beagle dogs (16 males and 16 females) subjected to standard safety tests. In these animals no clinical abnormalities were observed and all the tested parameters (haematology, biochemistry and urine analysis) were within the normal ranges. Leptospiral antibody titres ranging from 1 : 100 to 1 : 6400, against a serovar (hardjo) belonging to the Sejroe serogroup, were detected by the microscopic agglutination test (MAT) in the serum of the 19 dogs with interstitial nephritis. All animals without renal lesions were seronegative. Leptospiral antigen was detected immunohistochemically in the kidneys of 4 dogs; leptospires were detected in Warthin-Starry stained sections of one dog. Leptospires were isolated from the kidneys of 3 of the 4 dogs examined by bacterial culture. The isolated strains were typed as serovar sejroe by restriction endonuclease digestion and Southern blot hybridization analysis of their DNA. It was concluded that Leptospira interrogans serovar sejroe, was responsible for an asymptomatic chronic renal infection which was widespread in this group of laboratory dogs.

Agglutination Tests

Echocardiographic parameters and indices in the normal beagle dog.

M-mode and two-dimensional echocardiographic measurements were made from the right sternal border of 50 healthy Beagles (25 males and 25 females) approximately 7 months old. The dogs were conscious and standing during the investigation. The following parameters, in systole and diastole, were measured on the echocardiographic images: left ventricular posterior wall thickness (LVWT); intraventricular septum thickness (IST); left ventricular internal dimension (LVID); and circumference (LVC). Fractional shortening (FS) and ejection fraction (EF) were also calculated. Mean, standard deviation, range and coefficient of variation are reported for each echocardiographic parameter and for body weight. Males and females were considered separately and together. Each parameter was analysed statistically to check for differences between the sexes and for correlations with body weight. A statistically significant difference between the sexes was only observed for LVWT in systole and diastole. A linear regression with body weight was obtained only for LVID in systole and in diastole. The results show that morphofunctional cardiac homogeneity is independent of size in dogs of this breed and age.

Analysis of Variance

[Pharmacokinetics of broxaterol in asthmatic children].

Pharmacological profile of broxaterol, a new beta adrenergic compound, was investigated in 12 asthmatic children (6 male and 6 female with age 8-13 years). This study was performed from November to May, and venous blood was collected after 30, 45, 120, 180, 240 minutes from administration of 0.5 mg broxaterol; the urine was collected every 4 hours drug intake (0-4, 4-8, 8-12 hours). Drug absorption proved very fast: T max was 0.9 hours and Cmax was 2.05 micrograms/ml. T 1/2 was 2.3 hours. The urine concentration of broxaterol in the urine 0-4 and 4-8 hours after administration, was 6.11 and 2.3% (as drug percentage), after 8 hours no broxaterol was evaluated in the urine. Pharmacological profile of broxaterol in asthmatic children and adults is comparable.

Adolescent

Macroreticulate buffers: a novel approach to pH control in living systems.

It is possible to control the pH of growing living systems in vitro by adding, to the growth media, macroreticulate buffers, i.e. amphoteric resins made with buffering and titrant groups simultaneously affixed to the matrix. Such beads possess a very precise isoelectric point (pI) and are able to maintain the solutions' pH close to their pI values for extended growth periods. These pearls are made of a neutral polyacrylamide backbone containing up to 200 mM grafted weak acrylamido acids and bases. It is possible to produce such buffers with any desired pH value in the pH 2.5-11 scale. An example is given of conditioning the pH of endive plants grown hydroponically.

Acrylic Resins

The diagnostic value of immunoperoxidase in detecting K99+ Escherichia coli on histological sections.

The small intestine of 51 calves was examined for the presence of K99+ Escherichia coli by means of both an immunoperoxidase procedure performed on paraffin sections and by the slide agglutination test after isolation. Twelve cases resulted immunoperoxidase positive (23.5%) and 8 of them were also agglutination positive. Results of the 2 diagnostic tests agreed in 46 cases (90.2%). In immunoperoxidase positive sections a thick layer of immunoreactive bacteria was seen on the luminal surface of the enterocytes. Post-mortem autolysis or prolonged fixation did not seem to affect the immunoperoxidase reactivity of the sample.

Animals

[Partial trisomy for the segment 21(q11----qter) resulting from a de novo translocation between chromosomes 5 and 21].

A 3 1/2-year-old boy is described whose Down syndrome resulted from partial 21 trisomy through unbalanced de novo translocation between the long arm of chromosome 21 and the short arm end of a No. 5: 46,XY,t(5;21)(p15;q11). This case is discussed and compared with 17 others collected from the literature, some of which derived from a maternal balanced translocation.

Child, Preschool

[Variations in the presence of a fragile site on X--fra(X)--according to cases and methods used].

In the nearly last two years, using ten different media combinations in our research for the fragile X, we have observed cytogenetic variations, the knowledge of which may be useful for correct diagnosis. This experience, based on more than 6000 metaphases in 41 cases, includes 5 typical probands, 4 obligate and 4 possible heterozygotes, 19 deficient psychopaths, and 9 controls. Three main techniques were retained as shown in the text. In this study a fragile site was documented on 239 chromosomes of the C or X group, among which 180 could be specifically identified by trypsin Giemsa banding. Of these 180 fragile sites, X involvement was shown in 101 cells, and 55 other lesions were found to affect a chromosome 6. In our experience, none of 1180 cells from 9 control individuals were positive. It thus may be that under rigorous culture conditions the occurrence of one single fragile X at q27 or q28 is suggestive of the presence of the underlying mutation. In 19 cases studied because of mental and psychotic problems, nonetheless considered as clinically negative, only 2 out of 2510 cells had a fragile X, whereas frequency among cytogenetically verified X in our positive cases varied from 4 to 20% cells. We have come to distinguish five variations in the cytogenetic aspect of this site on the X, shown from A to E in a figure, two of which (D and E) may not have been described before. In rare cases this fragility usually seen as a chromatid or isochromatid gap may be present as a break with a resulting "double minute" found elsewhere in the metaphase field.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent

Sister chromatid exchange in patients affected by severe psoriasis.

An analysis of the sister chromatid exchanges has been carried out in lymphocytes from patients suffering from a severe form of psoriasis--pustular psoriasis (von Zumbusch), eruptive psoriasis vulgaris (more than 30% of the skin surface), severe arthropathic psoriasis and psoriatic erythroderma. These patients had never received treatment for their disorder. Our results, which show a normal level of sister chromatid exchanges in their blood cells, argue against the presence of a mutagenic factor in such patients.

Crossing Over, Genetic

[Familial observation of partial trisomy 6, and probable partial monosomy 18q by parental translocation].

Partial trisomy 6q (6q23 leads to qter), resulting from a non-balanced translocation 6/18, was detected in a child and his paternal uncle. Features of note in the uncle included micrognathia, scoliosis and mild mental retardation. The child presented a moderate hypertelorism, a flat nose bridge, carp-shaped mouth and minimal cutaneous syndactyly of the 2nd-3rd toes. These clinical signs have also been mentioned in the few cases of partial trisomy 6q described in the literature. In addition, our two patients present a cubital deviation of the fingers and, in the uncle, urinary tract malformations. The transmission of the 6/18 translocation in this family is discussed.

Child

[Implications for genetic counselling in regard to sex chromosome aneuploidies diagnosed by amniocentesis (author's transl)].

It is in the detection of chromosomal aneuploidies that amniocentesis currently renders the greatest service. However, when an anomaly of the fetal sex chromosomes is found, the decision of what attitude to hold in counselling the parents poses a real dilemma, due to the importance of phenotypic variation-notably of intelligence and behavior-in individuals with sex chromosome disorders. It is in such situations that the need for information furnished by prospective studies is particularly evident. Prenatal diagnosis of four cases of sex chromosomal polysomy, detected in the course of approximately 600 amniocenteses, is presented, as are the criteria which may guide the parents in their decision to continue or to terminate a pregnancy so affected.

Amniocentesis

[Significance of chromosomal mosaicism diagnosed by amniocentesis].

Second-trimester amniocentesis, performed in a 39-year-old woman, revealed on two different taps a weak aneuploid cell line 47,XY+C or X (2 clones), with a strong majority of fetal cells being 46,XY normal (15 clones). A chromosome examination carried out on cord blood after the birth of a phenotypically normal infant confirmed the presence of mosaicism, with 12% of the cells being 47,XXY. The authors consider the manner in which mosaicism diagnosed by amniocentesis may be interpreted, pointing out the danger of hasty conclusions in this domain, which has not yet been adequately explored.

Adult

[Distinctive features of euploid-aneuploid mosaicisms diagnosed by amniocentesis (author's transl)].

Although infrequent, mosaicism in amniotic fluid may lead to a questionable diagnosis. From a personal case and a general review of the literature the authors conclude that euploid-aneuploid mosaicism must be strongly considered as real if it is expressed in more than one clone, in more than one flask, if it is confirmed by a second amniocentesis and if the abnormal cell line is caused by the loss or acquisition of a chromosome compatible with a known pattern or syndrome. Other patterns documented in such a material have to be considered on their own merits as they may or may not be confirmed after birth.

Amniocentesis

[Do all cases of trisomy 18 with long survival (beyond 10 years) show mosaicism in fibroblasts? (author's transl)].

Description of a young girl aged 16 1/2 years who presents the typical features of trisomy 18 : small height, microdolichocephaly, anti-mongoloid palpebral fissures, micrognathia, microstomia, arched palate, malformed ears, atrophy of thenars and hypothenars, clinodactyly of fifth fingers and abortive cutaneous syndactyly between IV and V. At the lower limbs, there is a shortening of the right leg, an atrophy of the calves, as well as genua valga and bilateral pes excavatus with dorsiflexion of the toes. The gait is rigid with enlarged basis of sustentation. The results of the cardiac examination point to a minor ventricular septal defect. The development of secondary sexual characters (breasts and body hair) corresponds to the puberal age; the large pudendal lips are hypoplastic. The X-rays show a double left kidney. There is a very severe oligophrenia (I.Q. = 20). Cytogenetic examinations showed a typical trisomy 18 in 100% of observed lymphocytes, while the analysis of cutaneous fibroblasts revealed a mosaicism with 87% of trisomic cells. Out of 11 cases of trisomy 18 with long survival from the literature only 3 cases were of mosaic type. The authors assume that this small number of mosaic cases in trisomy is probably due to the fact that no examination of fibroblasts has been carried out in the seven other cases.

Abnormalities, Multiple