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I Lorente

Publications and source records attributed to I Lorente.

9 recordsLinked to original sources
PubMed2006

Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.

beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and it catalyses the irreversible hydrolysis of N-carbamyl-ss-aminoisobutyric acid or N-carbamyl-ss-alanine to beta-aminoisobutyric acid or ss-alanine, ammonia, and CO2. Analysis of the beta-ureidopropionase gene (UPB1) of the first 4 patients presenting with a complete enzyme deficiency, revealed the presence of 2 splice-site mutations (IVS1-2A>G and IVS8-1G>A) and one missense mutation (A85E). RT-PCR analysis of the complete beta-ureidopropionase cDNA suggested that both splice-site mutations lead to a variety of alternative splice variants, with deletions of a single or several exons. The alanine at position 85 was not conserved in other eukaryotic beta-ureidopropionase protein sequences.

Amidohydrolases↗
PubMed1997

Diagnosis of brucellosis by using blood cultures.

The performances of three blood culture systems, Hemoline performance diphasic medium (bioMérieux, Marcy l'Etoile, France), Bactec Plus Aerobic/F* (Becton Dickinson, Paramus, N.J.), and Vital Aer (bioMérieux), were compared for the diagnosis of 17 cases of brucellosis. By using a 5-day incubation protocol, positive results were 52.9, 82.4, and 11.8%, respectively. When the protocol was extended to 7 days, the results were 76.5, 94.1, and 47.1%, respectively. Bactec was the fastest system (P < 0.05).

Bacteriological Techniques↗
PubMed1997

[Mental deficiency preceded by transitory hypertonic cerebral motor disorder].

OBJECTIVE: To analyse clinical and outcome features of patients with mental retardation and transient hypertonia in early life which lead to the diagnosis of hypertonic cerebral palsy. MATERIAL AND METHODS: We study six patients that presented with the above features in our neuropediatric out patients clinic. Clinical data related with the hypertonic signs and its evolution were collected. All the patients were assessed to find their present cognitive and development state. RESULTS: Clinical and radiological signs of a possible prenatal neurological damage were found in all the patients. Structural anomalies were presented in neuroimaging in five cases. Agenesia or hypoplasia of corpus callosum was the most common finding. The pattern of progression of this cases were: 1. Improvement of hypertonia with almost normal tone by the age of two years. 2. Despite of the resolution of motor signs, persistence of different degrees of mental retardation. CONCLUSIONS: Our reported patients presented a peculiar pattern of progression within the wide variability of the cerebral palsy group.

Agenesis of Corpus Callosum↗
PubMed1996

Performance of six culture media for isolation of Salmonella species from stool samples.

The relative performance of five plating media [Rambach agar; salmonella-shigella (SS) agar, novobiocin-brilliant green-glycerol-lactose (NBGL), modified semisolid Rappaport-Vassiliadis medium (MSRV), and Salmonella Detection and Identification-2 (SM2)] and selenite broth (SB) subcultured in SS agar in the recovery of Salmonella spp. from 500 human stool specimens was evaluated. On Rambach agar and SS agar, the C8-esterase test was also used for selection of suspicious colonies. Eighty-one samples were positive for salmonellae on at least one of the six media. Sensitivities and specificities of MSRV, SB, NBGL, SS, Rambach agar, and SM2 were 95.1 and 98.1%, 87.6 and 99.8%, 79 and 91.9%, 69.1 and 99.3%, 56.8 and 96.9%, and 54.3 and 92.4%, respectively. There were statistically significant differences between MSRV and NBGL, Rambach agar, SS agar, and SM2 (p < 0.005), between SB and SS agar, Rambach agar, and SM2 (p < 0.05), and between NBGL and SM2 and Rambach agar (p < 0.005). The greatest number of isolates was recovered with MSRV, whose performance surpassed that of enrichment in selenite broth, probably because the subcultures were not repeated on MSRV. This hypothesis is now under investigation. The specificity of each of the five solid media was greater than 90%.

Bacteriological Techniques↗
PubMed1996

Comparison of five plating media for isolation of Salmonella species from human stools.

A comparative study was carried out to evaluate the performances of different culture media for the recovery of Salmonella spp. from 1,000 routine samples of human stools. By direct plating we tested Salmonella-Shigella agar (SS), Hektoen enteric agar (HE), bismuth sulfite agar (BS), novobiocin-brilliant green-glycerol-lactose agar (NBGL) and SM-ID medium (SM), and after selenite enrichment, we tested all of the media except HE. C8-esterase and oxidase tests were used for the screening of Salmonella spp. on SS and HE. The total number of Salmonella isolates from direct culture was 74, with respective sensitivities and positive predictive values (PPVs) of 78.4 and 61%, 64.9 and 18.7%, 36.5 and 34.2%, 55.4 and 20.7%, and 39.2 and 43.9% for NBGL, SS, HE, BS, and SMID, respectively. After enrichment, the total number of Salmonella isolates was 88. The respective sensitivities and PPVs obtained were 90.9 and 62.5%, 92 and 17%, 90.9 and 32% and 93.2 and 71.3% for NBGL, SS, BS, and SM, respectively. According to our results, NBGL in direct plating was the medium with the highest sensitivity with respect to the sensitivities of the other media, with significant statistical differences (P < 0.05). Likewise, the PPV for NBGL was also the highest (61%). After enrichment in selenite broth, the sensitivities of the four media tested were similar, with the best PPV obtained with SM (71.3%); this was followed by NBGL (62.5%). When C8-esterase was used on SS or HE, the PPVs improved from less than 40% to about 100%.

Culture Media↗
PubMedDate not supplied

Bioactivity of the essential oil of Bupleurum fruticosum.

The essential oil of Bupleurum fruticosum was investigated qualitatively and quantitatively together with the anti-inflammatory activity of the whole essential oil and its major components. In addition, antispasmodic activity was determined in rat uterus preparations using acetylcholine and oxytocin as agonists. The anti-inflammatory activity shown by the essential oil can be attributed in part to the two major components, alpha-pinene and beta-pinene, although the presence of thymol and carvacrol, minor components capable of potentiating the action of these hydrocarbons, was also confirmed.

Acetylcholine↗
PubMedDate not supplied

[Type I glutaric acidity with arachnoidal cysts].

Two sisters are shown who have been diagnosed as having glutaric acidity (GA) type I, in the neuroimage of which bilateral arachnoidal cysts were shown. There is a remarkable lack of correlation between the clinical status of the patients and the arachnoidal cysts. The younger sister developed the first symptoms of her illness at around 5 years of age, whereas the cysts had already been diagnosed at the age of one. It was considered convenient to doubt the diagnosis of type I GA, given the presence of bilateral or familiar arachnoidal cysts, despite the lack of symptoms.

Age of Onset↗