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J J Avila

Publications and source records attributed to J J Avila.

9 recordsLinked to original sources

Polymorphism in the interleukin-1 receptor antagonist gene is associated with alcoholism in Spanish men.

BACKGROUND: A polymorphism located in intron 2 of the interleukin-1 receptor antagonist (IL1RN) gene recently has been associated with the development of hepatic fibrosis in Japanese alcoholics. In the present study, we analyzed whether there is an association between this polymorphism, alcoholism, and alcoholic liver disease in a Spanish male population of alcoholics. METHODS: The IL1RN genotype was assessed by polymerase chain reaction by using oligonucleotides that flank a variable nucleotide tandem repeat polymorphism located in intron 2 of this gene in 90 male alcoholic patients from Spain: 30 alcohol-dependent men, 30 alcohol abusers, and 30 alcoholics with liver cirrhosis. We also studied 40 healthy subjects. RESULTS: The distribution of the IL1RN allelic frequencies in Spanish healthy subjects is similar to that previously reported in White subjects. However, the A1 allele is overrepresented in Spanish alcoholics when compared with healthy subjects. No significant differences in allelic frequencies were observed between alcoholics with liver cirrhosis and alcoholics without liver disease or between alcohol-dependent subjects and alcohol abusers. CONCLUSION: The presence of the A1 allele of the IL1RN gene is associated with a higher risk of alcoholism in Spanish men.

Adult↗

Fibronectin gene polymorphisms associated with fibrosing alveolitis in systemic sclerosis.

Systemic sclerosis (SSc), a multisystem immunologic disease of unknown etiology, is commonly manifested in the lung as fibrosing alveolitis (FASSc). There is evidence to support the role of genetic factors in the predisposition to pulmonary fibrosis in SSc (HLA DR3/DR52a). This association is not complete and other candidate genes are likely involved. Of these, fibronectin is a growth factor known to play a crucial role in lung fibrosis. Our study investigated whether polymorphisms of the fibronectin gene are associated with lung fibrosis in SSc. Using the polymerase chain reaction and the restriction enzymes HaeIII, MspI, HindIII, and TaqI, we assessed the restriction fragment length polymorphisms (RFLPs) in 161 patients with SSc and 253 healthy control subjects from the United Kingdom. For each restriction enzyme, three genotypes were possible corresponding to the presence of the cutting site on neither, one, or both chromosomes (HaeIII AA, AB, BB; MspI CC, CD, DD; HindIII EE, EF, FF; TaqI GG, GH, HH). There was a significant decrease of genotype BB (FASSc: 17%, control: 34%; Pcorr = 0.006) with a reciprocal increase of genotype AB (FASSc: 62%, control: 46%; Pcorr = 0.022) in FASSc with the HaeIII RFLP. A significant decrease of genotype DD was observed in FASSc (FASSc: 28%, control: 41%; Pcorr = 0.038) with the MspI RFLP. The coassociation of genotypes AB (HaeIII RFLP) and CD (MspI RFLP) was present in 45% of the FASSc group (P = 0.0059), with an increased relative risk of developing fibrosing alveolitis of 1.988. We conclude that genotypes of the fibronectin gene are useful prognostic factors in SSc, helping to predict individuals likely to develop pulmonary fibrosis.

Adult↗

Rapid genotyping of transforming growth factor beta1 gene polymorphisms in a UK Caucasoid control population using the polymerase chain reaction and sequence-specific primers.

Transforming growth factor (TGF) beta1 is a growth factor which has multiple functions including the promotion of matrix deposition during wound healing and scar formation. Gene polymorphisms within or close to the 5' region of TGFbeta1 have been identified; three in the upstream region, one in the non-translated region, two in the signal peptide sequence and one in a region of the gene coding for the precursor protein. We have developed a method using 14 polymerase chain reaction-sequence-specific primer reactions to characterise six of these polymorphisms. In the upstream region, both forward and reverse allele-specific primers were used to demonstrate the cis/trans orientation of alleles at adjacent polymorphisms (haplotypes). We report the allele and genotype frequencies of TGFbeta1 genes in two sets of UK Caucasoid control subjects.

DNA Primers↗

Analysis of the family structure in a case of psychogenic purpura.

The case deals with an 18-year-old female patient suffering from psychogenic purpura who was successfully treated with individual and family oriented dynamic psychotherapy. Emphasis is placed on family dynamics and their possible bearing on the origin of the illness.

Adult↗

[Effectiveness of venlafaxine in the treatment of alcohol dependence with comorbid depression].

INTRODUCTION: There are no conclusive data on the effectiveness of antidepressant drugs in the treatment of comorbid cases of alcohol dependence and depression. OBJECTIVES: To determine the effectiveness of venlafaxine on depression and on severity (need of treatment) of alcohol dependence and related problems. METHODS: Observational, open-label, multicenter, 24-week follow-up study. PATIENTS: 90 outpatients with diagnosis of alcohol dependence and associated major depression disorder (DSMIV criteria). OUTCOMES MEASURES: the Hamilton Rating Scale for Depression (HAM-D17), European Addiction Severity Index (EuropASI) and Clinical Global Impression, severity and improvement subscales, (CGI-S and CGI-I). Evaluations were performed at baseline and at weeks 2, 4, 8 and 24. RESULTS: Mean age 44.94+/-9.74 years; 73.3 % man. HAM-D17 mean scores significantly decreased from baseline (24.85+/-5.94) to week 24 (5.976+/-4.68) and at each of the follow-up visits vs previous visit (p < 0.0005). Significant decreases from baseline to week 24 were obtained in four areas of EuropASI: medical status (2.12+/-2.45 to 1.07+/-1.68), alcohol use (5.29+/-2.24 to 3.04+/-2.35), family/ social relationships (3.68+/-2.36 to 1.71+/-2.06) and psychiatric status (5.61+/-1.81 to 2.67+/-2.03). Tolerance was excellent or good in 76.7% of the patients. CONCLUSIONS: Venlafaxine demonstrated to be effective in the treatment of depressive alcoholic patients. Furthermore, it seems to be useful to decrease the severity of problems related with the alcohol use.

Adult↗

[Actinic lichen].

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Adolescent↗