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Biomedical subjects

F Prieto

Publications and source records attributed to F Prieto.

At least 19 recordsLinked to original sources
PubMed2006

Recombinant X chromosome in a prenatal diagnosis.

The prenatal cytogenetic study of an amniotic fluid sample of a 39-year-old female showed one X chromosome with a fragment of extra material in the short arm. The G-band pattern suggested that the extra material could be the long arm of an X chromosome. Several complementary studies were performed in order to better clarify the origin of the material. These studies included parental karyotypes, microsatellite typing and comparative genomic hybridization (CGH). The results obtained allowed us to conclude that the derivative chromosome arose de novo as a recombinant X chromosome with duplication of Xq and partial deletion of Xp. Once informed, the parents decided to continue with the pregnancy, after which a healthy girl was born with no apparent disorders.

Adult↗
PubMed2005

The role of metallothionein and zinc in hepatic copper accumulation in cattle.

The role of metallothionein (MT) and zinc (Zn) in hepatic copper (Cu) accumulation in calves from a region in North-West Spain has been investigated. In this region there is intensive pig farming, and animals with liver Cu concentrations above normal are not uncommon. Concentrations of hepatic MT were not related to Cu accumulation but were strongly dependent on the Zn status of the animal. When analysing the metal content bound to MT it was observed that Cu-MT values, in the same way as Zn-MT, were directly correlated with MT concentrations in the liver, indicating that although Cu is a poor inducer of MT synthesis, it can compete with Zn for MT binding sites. The ability of Cu to displace Zn from MT is highly dependent on the Cu:Zn ratio in the cell, Cu being the main metal in MT at the higher levels of Cu exposure in Galician cattle. In spite of this, the percentage of the total hepatic Cu bound to MT is very low in these animals, indicating that cattle have a very limited capacity to accumulate Cu-MT in the liver, and may therefore have a greater susceptibility to Cu toxicosis.

Animals↗
PubMed2003

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

Two novel mutations of the ribosomal S6 kinase 2 gene (also known as RSK2) have been identified in two unrelated patients with Coffin-Lowry syndrome. The first mutation consists of a de novo insertion of a 5'-truncated LINE-1 element at position -8 of intron 3, which leads to a skipping of exon 4, leading to a shift of the reading frame and a premature stop codon. The L1 fragment (2800 bp) showed a rearrangement with a small deletion, a partial inversion of the ORF 2, flanked by short direct repeats which duplicate the acceptor splice site. However, cDNA analysis of the patient shows that both sites are apparently not functional. The second family showed the nucleotide change 803T>C in exon 10, resulting in the F268S mutation. This mutation was detected in two monozygotic twin patients and in their mother, who was mildly affected. The patients fulfill the clinical criteria of the syndrome, and therefore the mutation provides further support for the importance of phenylalanine at position 268, which is highly conserved in the protein kinase domain of many serine-threonine protein kinases.

Adult↗
PubMed2001

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

Clinical and molecular studies are reported on a family (MRX73) of five males with non-specific X-linked mental retardation (XLMR). A total of 33 microsatellite and RFLP markers was typed. The gene for this XLMR condition was been linked to DXS1195, with a lod score of 2.36 at theta = 0. The haplotype and multipoint linkage analyses suggest localization of the MRX73 locus to an interval of 2 cM defined by markers DXS8019 and DXS365, in Xp22.2. This interval contains the gene of Coffin-Lowry syndrome (RSK2), where a missense mutation has been associated with a form of non-specific mental retardation. Therefore, a search for RSK2 mutations was performed in the MRX73 family, but no causal mutation was found. We hypothesize that another unidentified XLMR gene is located near RSK2.

Chromosome Mapping↗
PubMed2001

[Early diagnosis of retinoblastoma: usefulness of searching for RB1 gene mutations].

BACKGROUND: Retinoblastoma, the intraocular malignancy most common in children,occurs in both familial and sporadic (bilateral or unilateral). Hereditary predisposition is caused by a germ-line mutation while non-hereditary is due to two somatic mutations in a retinal cell. This work was carried out in order to analyse genetically, the high number of families with some affected member and to go deep into the molecular mechanisms responsible of this pathology. PATIENTS AND METHOD: 59 families with one or more affected members were analysed. Cytogenetics and with polymorphic markers studies were carried out and a search for mutations was performed in DNA from white cells and from available tumoral tissue. RESULTS: In four of the 5 familial cases, the responsible mutation was established,the same as in 9 of the 13 bilateral sporadic. In the 7% of the unilateral sporadic cases, mutation was found in leucocytary DNA. Lost of heterozygosity as a second mutational event was mainly due to mitotic recombination. CONCLUSIONS: Among the mutations of our series, a higher frequency of punctual mutations,responsible of the first mutational event, was observed at constitutional level. Lost of heterozygosity was the mechanism observed in the majority of the tumours.

DNA Mutational Analysis↗
PubMed2001

Biological activity of Guatteria cardoniana fractions.

Methanolic extract of leaves and twigs of Guatteria cardoniana R.E. Fries (Annonaceae), a plant from the Venezuelan rain forest, was separated in alkaloid rich fractions and their biological effect on baby hamster kidney (BHK) cell line was studied. The initial plant extract (FA) induced cell proliferation, cytotoxicity as well as antiviral activity, depending on the concentration used. Further separation of this methanolic extract allowed us to separate these biological activities. The fraction with the highest antiviral activity (F7) was chromatographed and three of the nine alkaloid-rich fractions obtained, retained this activity. One of them (F(7)11) exhibited the highest inhibitory effect against a neurotropic Sindbis virus (NSV).

Animals↗
PubMed2001

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features.

In this report we present the clinical features and molecular and cytogenetic findings in a female with partial trisomy 14q. Molecular and cytogenetic studies allowed us to determine that the extra 14q material (of paternal origin) was translocated postzygotically onto the maternal X chromosome. Consequently, only the derivative X chromosome was inactivated, although inactivation apparently did not spread over the entire chromosome 14q. This partial inactivation makes the present case unusual, giving rise to phenotypic features absent in other patients with partial trisomy 14q, typically restricted to the distal part of the chromosome.

Blotting, Southern↗
PubMed2000

Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Grupo Cooperativo Español de Citogenética Hematológica.

Recently, a consensus International Prognostic Scoring System (IPSS) for predicting outcome and planning therapy in the myelodysplastic syndromes (MDS) has been developed. However, the intermediate-risk cytogenetic subgroup defined by the IPSS includes a miscellaneous number of different single abnormalities for which real prognosis at present is uncertain. The main aims of this study were to evaluate in an independent series the prognostic value of the IPSS and to identify chromosomal abnormalities with a previously unrecognized good or poor prognosis in 640 patients. In univariate analyses, cases with single 1q abnormalities experienced poor survival, whereas those with trisomy 8 had a higher risk of acute leukaemic transformation than the remaining patients (P = 0.004 and P = 0.009 respectively). Patients with single del(12p) had a similar survival to patients with a normal karyotype and showed some trend for a better survival than other cases belonging to the IPSS intermediate-risk cytogenetic subgroup (P = 0.045). Multivariate analyses demonstrated that IPSS cytogenetic prognostic subgroup, proportion of bone marrow blasts and haemoglobin level were the main prognostic factors for survival, and the first two characteristics and platelet count were the best predictors of acute leukaemic transformation risk. A large international co-operative study should be carried out to clarify these findings.

Adult↗
PubMed1999

Chromosome 11 abnormalities in myelodysplastic syndromes.

Cytogenetic studies were performed in 140 patients with myelodysplastic syndrome (MDS) at diagnosis. Chromosome 11 anomalies were found in 7 cases (5%); 2 of these patients had refractory anemia (RA), 2 had refractory anemia with excess of blasts (RAEB), 1 had RAEB in transformation (RAEB-t), and 2 had chronic myelomonocytic leukemia (CMMoL) according to the French-American-British (FAB) Cooperative Group criteria. The chromosome 11 abnormalities comprised trisomy 11 (2 patients), monosomy 11 (1 patient), del(11)(q23) (2 patients), add(11)(p15) (1 patient), and der(11) t(3;11)(p21;q23) (1 patient). Abnormalities involving band q23 of chromosome 11 occurred in 3 cases and were the most common alteration. However, specific chromosomal alterations were not associated with any FAB classification group. These findings and their implications in the biology of MDS are discussed.

Aged↗
PubMed1999

[Multiple endocrine neoplasia type 1: genetic study of a large family].

Multiple endocrine neoplasia syndrome type 1 (MEN-1) is an inherited disorder characterised by the predisposition of the cells from parathyroid glands, endocrine pancreas and adenohypophysis to develop neoplasms. We report the genetic study of an extended family with at least 8 affected patients and 10 putative carriers of a mutation in MEN-1 gene. One intragenic (Asp418 GAC-->GAT), and five flanking markers were characterised in the family by PCR amplification and polyachrylamide gel electrophoresis. Association of the disease to MEN-1 gene was confirmed for this family: all the affected members show a haplotype in common. Three patients at risk were diagnosed as non-carriers, since they have not inherited that haplotype. The remaining seven members, presymptomatic carriers, are included in a follow-up protocol. The genetic study of families segregating MEN-1 syndrome are useful in avoiding indiscriminate follow-up determinations to those members who have not received the genetic predisposition to develop any of the manifestations of the syndrome. Segregation analysis with linked markers is useful, under certain circumstances, to perform such type of studies.

Biomarkers, Tumor↗
PubMed1999

Perineal reconstruction for severe sequela of ecthyma gangrenosum: report of a case.

Ecthyma gangrenosum is a cutaneous gangrenous disorder which usually follows Pseudomona aeruginosa infection and is found mainly in immunosuppressed children. We describe a case of a five-year-old female with leukemia with a severe perineal ecthyma gangrenosum resulting in a cloaca-like deformity. One year later a perineoplasty with puborectalis interposition and overlapping external anal sphincteroplasty was successfully performed, achieving satisfactory continence.

Child, Preschool↗
PubMed1999

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar degeneration caused by the expansion of a CAG trinucleotide repeat in the CACNA1A gene. Mutations in patients are characterised by expanded alleles of between 21 and 30 repeat units and by extreme gonadal stability when transmitted from parents to children. We have investigated the SCA6 mutation in a large Spanish kindred in which previously reported spinocerebellar SCA genes and loci had been excluded. We observed a 23 CAG repeat expanded allele in the 13 clinically affected subjects and in three out of 10 presymptomatic at risk subjects. Transmission of the mutant allele was stable in six parent to child pairs and in 29 meioses through the pedigree. Linkage analysis with the SCA6-CAG polymorphism and marker D19S221 confirmed the location of SCA6 on chromosome 19p13. The molecular findings in this large family confirm the expansion of the CAG repeat in the CACNA1A gene as the cause of SCA6 and the high meiotic stability of the repeat.

Adult↗
PubMed1999

Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.

Although trisomy of chromosome 21 is the most prevalent human genetic disorder, data from partial 21 aneuploidies are very scanty. Eight different partial aneuploidies for chromosome 21 were characterised by fluorescence quantitative PCR. Allelic dosage analysis was performed for each patient using 25 CHLC STRs covering the entire q arm. The length of the corresponding trisomies and monosomies was ascertained for five partial trisomics and three partial monosomics. All trisomic patients carried unbalanced translocations involving chromosome 21, whereas one of the monosomic patients bore a ring chromosome 21 and another showed an interstitial deletion of chromosome 21. The chromosomal breakpoints of two partial trisomy patients could be clearly delimited. However, the other three trisomies involved most of the 21 q arm as three allelic doses were detected for each marker. Although these latter patients do not show all the features of Down syndrome, genotype/phenotype correlations agree with previously reported data. The chromosomal breakpoints observed in two partially monosomic patients helped further to define the region involved in different phenotypic features associated with chromosome 21 monosomy. Telomeric material loss was also detected in a patient bearing a ring 21 chromosome. The parental origin of the aneuploidy was assigned for each case, which allowed us to conclude that two of the monosomic cases originated from de novo chromosomal rearrangements. There was no correlation with parental sex in contrast to trisomic patients originating from meiotic nondisjunction.

Aneuploidy↗