PubMed Health⌕ Search

Biomedical subjects

F Setién

Publications and source records attributed to F Setién.

10 recordsLinked to original sources
PubMed1995

Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.

DNA polymorphisms (RFLPs) of the human complement component C6, C7, and C9 genes were studied in three C7-deficient (C7D) families, one C6-deficient (C6D) family, and one C9-deficient (C9D) family. The 3 loci are closely linked on human chromosome 5. The haplotypes carrying the "silent" allele (C7*Q0, C6*Q0, and C9*Q0) were defined in each family, allowing for the detection of carriers among asymptomatic relatives. This paper describes familial studies on a type of hereditary trait, characterized by recurrent Neisseria infections in individuals homozygous for "silent" alleles at the C6, C7, or C9 loci.

Alleles↗
PubMed1995

HLA-B27 subtypes in Asian patients with ankylosing spondylitis. Evidence for new associations.

The aim of this study was to investigate the contribution of the different B27 subtypes to ankylosing spondylitis (AS) susceptibility. The polymerase chain reaction (PCR) in combination with the sequence-specific oligonucleotide probes (SSOs) was used to analyse the polymorphism in exon 2 and 3 of HLA-B27 in two Asian groups with different genetic HLA structures: Indian (I) and Thai (T) populations. The same number of AS patients (45) and healthy B27 positive donors (n = 17) from both populations were analysed in order to ascertain the B27 subtypes. Three different findings can be concluded from this study: 1) B*2707 has been found to be associated with AS in both populations. This association has not been previously reported in either ethnic group. 2) B*2704 is strongly associated with AS in the Thai patients (91% in AS vs. 47% in C; RR = 11.5; EF = 0.83). In contrast, B*2704 was found with similar frequency in Asian Indians AS patients and controls (41% in AS vs. 41% in C.). 3) B*2706 was found overrepresented in control populations and absent in AS patients (0% in AS vs. 47% in C.; pc < 10(-6)) showing the maximum value of protective fraction (PF = 1). The B*2706 negative association with AS has not been previously described in other ethnic groups and could indicate a protective effect of this subtype on AS susceptibility. The B*2706 allele has two changes relative to B*2704 at residue 114 (His to Asp) and 116 (Asp to Tyr) in the pockets D/E. The importance that these differences can play in the pathogenesis of AS are discussed.

Amino Acid Sequence↗
PubMed1994

A physical map of two clusters containing the genes for six proinflammatory receptors.

The genes encoding for six receptors involved in the proinflammatory response lie on different chromosomes. Two receptors for N-formylpeptides (FPR1, FPR2), one homologue of these (FPRL2), and the receptor for complement fragment C5a (C5aR) are encoded by four genes mapped to human chromosome 19. The genes encoding two receptors for Interleukin-8 (IL8RA, IL8RB) have been located on human chromosome 2. In this report we describe the physical linkage between these genes in two different clusters. DNA fragments obtained by digestion with several restriction enzymes were separated by pulsed field gel electrophoresis. Nylon filters were hybridized with probes corresponding to the complete translated sequences of these genes. These probes were obtained from a human neutrophil cDNA-library. The four genes on chromosome 19 are contained in a 200 kilobase (kb) fragment. Both Interleukin-8 receptors are on a 150 kb fragment. The complete translated sequences for these genes were amplified from genomic DNA, indicating that they are contained in a single exon.

Base Sequence↗
PubMed1991

Germline repertoire of T-cell receptor beta-chain genes in patients with insulin-dependent diabetes mellitus.

We have investigated the genotype and allelic distribution of germline restriction fragment length polymorphisms of the T-cell receptor beta chain, segment C beta, and two variable segments which are in linkage disequilibrium, V beta 8 and V beta 11, in 42 insulin-dependent diabetes mellitus (IDDM) patients and in 51 healthy blood donors used as controls. Recently, several works have reported contradictory results showing or not showing an association between polymorphic alleles of the C beta gene and diabetes type I. We found no significant differences in the allele, genotype, and haplotype distribution of the gene segments studied, between IDDM patients and control populations.

Adolescent↗
PubMed1987

Efficacy of monopolar electrocoagulation in the treatment of bleeding gastric ulcer: a controlled trial.

With the aim of evaluating, in a controlled prospective fashion, the efficacy of monopolar electrocoagulation in the emergency treatment of bleeding gastric and stomal ulcers, 37 patients were studied: 16 were electrocoagulated (EC group) while the remaining 21 were treated by conventional methods (control group). The hemorrhage recurred in only one of the 16 patients belonging to the EC group, but in 11 of the 21 control patients (p less than 0.0005). Transfusion requirements were also reduced in the EC group (p less than 0.05), with no significant difference in relation to mortality. Stratifying the results according to hemorrhagic activity, electrocoagulation should be clearly effective in those patients with spurting hemorrhage, taking into account several limitations: deep ulcers bearing gross vessels, and lack of cooperation by the patient. Prophylactic treatment of the bleeding ulcer with a visible non-spurting vessel may be indicated whenever we make a proper selection of the patients with a greater possibility of hemorrhagic recurrence.

Adult↗
PubMed1985

Retrospective endoscopic analysis of gastric xanthelasma in the non-operated stomach.

To investigate the significance of gastric xanthelasma, a retrospective review of 109 cases with an endoscopic diagnosis of this lesion was undertaken. A predominance in older patients was noted, with a similar distribution in antrum and fornix. In 15 cases (16.6%) they were multiple. They were occasionally associated with gastric erosions. In particular they were associated with chronic gastritis and intestinal metaplasia (48.9%). It is therefore concluded that gastric xanthelasma is not a rare lesion and that it is frequently associated with senile degenerative changes in the gastric mucosa.

Adult↗