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Biomedical subjects

J Zúñiga

Publications and source records attributed to J Zúñiga.

At least 19 recordsLinked to original sources

Allele frequencies for 15 autosomal STR loci and admixture estimates in Puerto Rican Americans.

Allelic frequencies of 15 short tandem repeats (STR) markers (CSF1PO, FGA, THO1, TPOX, VWA, D3S11358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, D19S433 and D2S1338) were determined using the AmpFl STR Identifiler PCR Amplification Kit in Puerto Rican American individuals (N=205) from Massachusetts. The FGA, D18S51 and D2S1338 loci had a high power of discrimination (PD) with values of 0.967, 0.965 and 0.961, respectively. Significant deviations from the Hardy-Weinberg (HW) equilibrium were not detected. An important genetic contribution of Caucasian European (76.4%) was detected in Puerto Rican Americans. However, comparative analysis between Puerto Rican American and other neighboring populations from United States mainly with African and Caucasian Americans, revealed significant differences in the distribution of STR markers. Our results are important for future comparative genetic studies of different American ethnic groups, in particular a cultural group called Hispanic-Americans and should be helpful for forensic and paternity testing.

DNA Fingerprinting↗

Molecular analysis of a 444 bp fragment of the bovine leukaemia virus gp51 env gene reveals a high frequency of non-silent point mutations and suggests the presence of two subgroups of BLV in Chile.

With the aim of achieve a better understanding of the epidemiology and distribution of bovine leukaemia virus (BLV) infection in Chile, we assessed the suitability of using DNA isolated from the leukocyte fraction of bulk milk samples to carry out PCR-RFLP and DNA sequence analysis. The env fragment of BLV was successfully amplified from 33 serologically positive bulk milk samples collected from different geographical areas in the south of Chile. Restriction analysis allowed to classify 17 isolates within the Australian subgroup and 16 within the Belgium subgroup. DNA sequence and multiple alignment analysis of eight Chilean isolates showed a significantly higher frequency of single and double nucleotide substitutions. Most of these mutations were non-silent, resulting in changes at the protein level in several important epitopes of gp51. The Chilean sequences and 59 BLV env sequences available at GenBank, were subjected to a phylogenetic analysis, resulting in four different clusters. The groups identified were not related to those previously defined by restriction analysis. Chilean isolates were included in two different clusters and were genetically not related to isolates collected from neighbouring countries. Considering our results we can conclude: (i) bulk milk samples are suitable to identify the presence of BLV allowing epidemiological and genetic studies to be conducted on large geographical areas; (ii) at least four different genetic groups of BLV were identified by phylogenetic analysis, with Chilean isolates included in two different sub clusters.

Amino Acid Sequence↗

Variational Calculations of Rovibrational Energies for CO(2).

Vibrational-rotational energy levels for the CO(2) molecule are computed variationally using an empirical potential energy surface previously determined. The calculations are carried out using a set of generalized internal coordinates properly optimized to describe the internuclear motions of the molecule. The rovibrational energies are used to determine the vibrational terms G(v) and the inertia constants B(v) for states with l = 0 to l = 6, and the values of these molecular constants are compared to those derived from the observed spectra. There exists excellent agreement between the calculated and the observed constants, which confirms the good quality of the potential energy surface used. Copyright 2001 Academic Press.

Journal Article↗

Tumor necrosis factor-alpha promoter polymorphisms in Mexican patients with systemic lupus erythematosus (SLE).

The major histocompatibility (MHC) genes including TNF-alpha, HSP70 and HLA genes have been associated with systemic lupus erythematosus (SLE) in several populations. In this study we analyze the polymorphism of TNF-alpha promoter in 51 Mexican Mestizo SLE patients and 55 ethnically-matched healthy controls by polymerase chain reaction methods. No statistically significant differences were observed in the TNF -308 allele and genotype distribution between patients and healthy controls. However, we found a significant increase in the TNF G/A -238 genotype and in the TNFA -238 allele frequencies in the SLE group when compared with healthy controls (Pc = 0.03, OR = 4.77 and Pc = 0.02, OR = 3.62, respectively). DRB1 analysis showed a similar distribution in patients and controls. Linkage disequilibrium was observed for five haplotypes: DRB1*1401-TNFA-238 (D = 0.84; D' = 1.0; P = 0.015); DRB1*0301-TNFA-238 (D = 1.38; D' = 0.41; P = 0.042); DRB1*1106-TNF2-308 (D = 0.9; D' = 1.0; P = 0.0006); DRB1*1104-TNF2-308 (D = 0.83; D' = 0.45; P = 0.02) and DRB1*1406-TNF2-308 (D = 0.83; D' = 0.45; P = 0.02). Our data suggest that the association between the TNF-alpha -238 polymorphism and SLE could play a major role in disease susceptibility.

Alleles↗

Size evolution of the vibrational predissociation process in Br2...Nen clusters: simulation and kinetic study.

A hybrid quantum-classical simulation of the vibrational predissociation of Br2...Nen, (n = 2-11) clusters in the B electronic state is carried out. The time-evolution of the reactants, products, and intermediates is analyzed by a kinetic mechanism consisting of three elementary steps: direct vibrational predissociation (VP), intramolecular vibrational redistribution (IVR), and evaporative cooling (EC). The importance of intramolecular vibrational redistribution followed by evaporative cooling relative to direct vibrational predissociation is shown to increase rapidly with increasing cluster size. Final product state distributions reveal that only one or less Br2 stretching quantum per neon atom is required in order to achieve complete dissociation (n quanta for n < or = 9 and n - 1 for n = 10 and 11). The proportion of available energy going into translation is proposed as a parameter to study the statistical behavior of the Van der Waals clusters. It is shown to depend only on the number of remaining degrees of freedom, a characteristic of a statistical behavior, for n > or = 3.

Journal Article↗

Bacterial DNA in synovial fluid cells of patients with juvenile onset spondyloarthropathies.

OBJECTIVE: To identify bacterial DNA in synovial fluid cells of patients with active juvenile onset spondyloarthropathy (SpA). METHODS: The main group of study constituted 22 patients with juvenile onset SpA. In addition, five patients with adult onset SpA and nine with rheumatoid arthritis (RA) were studied. Polymerase chain reaction (PCR) with either genus- or species-specific primers was performed on synovial fluid cells to detect DNA sequences of Chlamydia trachomatis, Yersinia enterocolitica, Salmonella sp., Shigella sp., Campylobacter sp. and Mycobacterium tuberculosis. The presence of antibacterial antibodies in sera and synovial fluid was also determined by enzyme-linked immunoassay. RESULTS: The synovial fluid of nine patients with juvenile onset SpA, three with adult onset SpA and one with RA contained bacterial DNA. Five juvenile onset SpA samples had DNA of one single bacterium; two juvenile onset SpA and three adult onset SpA had DNA of two bacteria and two juvenile onset SpA had DNA of three bacteria. Overall, Salmonella sp. DNA was detected in seven synovial fluid samples, Shigella sp., Campylobacter sp. and M. tuberculosis were found in four samples each, and C. trachomatis was found in two. The bacterial DNA findings correlated with neither diagnosis nor disease duration. One RA synovial fluid had DNA of Campylobacter sp. Neither serum nor synovial fluid antibacterial antibodies correlated with DNA findings or clinical diagnosis. CONCLUSION: In this study, single and several combinations of bacterial DNA were identified in the synovial fluid of patients with long-term undifferentiated and definite juvenile onset SpA and adult onset SpA. Of relevance is that bacterial DNA corresponds to bacteria producing endemic disease in our population.

Adolescent↗

DNA sequencing of HLA-B alleles in Mexican patients with Takayasu arteritis.

Takayasu arteritis (TA) is characterized by a 'pulseless' condition and occurs frequently in young females from Asian and South American countries. It has been associated with Mayor Histocompatibility Complex (MHC) genes in different populations. Recent data indicate direct participation of HLA-B alleles in the susceptibility to the disease. This fact was explored in an associative study with TA to establish if some region in the exon 2, intron 2 or in the exon 3 of HLA-B alleles is common in the alleles associated with TA and at the same time to know if a specific sequence or an epitope, more than an allele, would be responsible for the susceptibility to this vasculitis. We studied HLA-B alleles of 12 Mexican patients with TA using PCR-SSP and sequencing. The analysis by PCR-SSP in 12 patients showed that five of them showed the B*15 allele, three the B*40 allele and two the B*39 allele, the remaining two presented the B*44 allele. Sequence analysis enabled us to define that the B*39 subtypes are B*3908; B*15 subtypes are B*1510, B*1515, B*1522 and B*1531; and the B*40 subtypes are B*4005 and B*4008. An individual with B*51 (B*5107) and another with B*52 (B*5201) alleles were also identified. The sequences of the intron 2 seem be heterogeneous. Analysis at the 63 and 67 positions of HLA-B alleles showed that 9 of them have similarity in some of these positions with the residues detected in the B*5201 and B*3902 alleles associated with TA in Asian populations. The results indicate that there is heterogeneity in the alleles associated with TA in Mexicans but, in spite of that heterogeneity, the alleles associates can be separated into three groups: B*39, B*15 and B*40, whose subtypes are rare and apparently of recent generation in Mexico, probably by recombination events at intron 2 level. The sequences analysis also shows that most of the alleles detected in the Mexican patients share two epitopes described in the susceptibility alleles in Asian populations, suggesting that these epitopes could be responsible for the susceptibility to develop the disease in spite of the allele in which are found.

Alleles↗

Determination of a Potential Energy Surface for CO2 Using Generalized Internal Vibrational Coordinates.

A potential energy surface for CO2 is determined from experimental data using generalized internal vibrational coordinates. These coordinates are defined as two arbitrary distances and the angle between them and depend on two external parameters, which can be properly optimized. An optimal generalized internal coordinate system is obtained for CO2 by minimizing unconverged vibrational energies with respect to the external parameters. The optimal coordinates are shown to be superior to previously derived normal hyperspherical coordinates for this molecule. A nonlinear least-squares fit of the potential energy surface of CO2 to observed vibrational frequencies is made by using the optimal internal coordinates and fully variational calculations. The potential function is represented by a fourth-order Morse-cosine expansion and its quality is checked by computing highly excited vibrational transition frequencies which were not included in the fit. Copyright 1999 Academic Press.

Journal Article↗

HLA-DRB and HLA-DQB loci in the genetic susceptibility to develop glaucoma in Mexicans.

PURPOSE: Glaucoma is a clinically heterogeneous disease with a pathophysiology that may include genetic susceptibility, possibly associated with an immunologic disorder. The aim of this study was to determine whether the DNA polymorphisms located in the HLA-DRB1 and HLA-DQB1 genes show a specific association pattern in Mexican mestizo patients with primary open-angle glaucoma. METHODS: This was a cross-sectional, case-control, multicenter study. We analyzed the HLA-DRB1 and DQB1 loci of 81 Mexican mestizo nonrelated patients with primary open-angle glaucoma and 98 healthy ethnic matched control subjects. Patients were diagnosed clinically and by visual fields examination. HLA typing was performed by PCR-SSO reverse dot blot. RESULTS: We documented increased frequencies of HLA-DRB1*0301, DRB1*1101, DRB1*0701, DRB1*1402, DQB1*0302, and DQB1*0301; however, none of them were significantly different from normal control subjects. Haplotype analysis showed that the HLA-DRB1*0407-DQB1*0302 haplotype is significantly increased in patients compared with control subjects (P = .0001). CONCLUSIONS: The haplotype HLA-DRB1*0407-DQB1*0302 is common among Mexican mestizo (haplotype frequency = 0.102), and it was increased in our patients (haplotype frequency = 0.259, P = .0001). This may reflect an independent association of this haplotype with the disease as the result of linkage disequilibrium or the influence of a neighboring gene. The pathophysiology of this illness is uncertain, and further studies are needed regarding the genetic susceptibility to develop primary open-angle glaucoma.

Alleles↗

Heat-shock protein (HSP70-2) allelic frequencies in three distinct Mexican populations.

The major histocompatibility complex (MHC) genes are highly polymorphic and therefore have been useful in population genetics and disease association studies. We analyzed restriction fragment length polymorphism of HSP70-2 alleles in healthy unrelated Mestizo, Mazatecan and Nahua populations. Both Indian groups, Mazatecans and Nahuas, were in Hardy-Weinberg equilibrium, while Mestizos were in disequilibrium (chi 2 = 0.399; P < 0.05). The Mazatecan Indians presented a high frequency of BB homozygosity (17.35%) compared to Mestizos (5%) (P = 0.01). Mexican ethnic groups present differences in distribution of BB genotype. The low frequency of BB genotype in Mestizos may be the result of a negative selection process.

Alleles↗

Class II major histocompatibility complex typing across the ethnic barrier in pemphigoid gestationis. A study in Mexicans.

BACKGROUND: Pemphigoid gestationis (PG), also called herpes gestationis, is a rare autoimmune disease of pregnancy or puerperium (estimated 1 out of 50,000 pregnancies among Caucasians). A previous series has demonstrated an association of PG with human leukocyte antigen (HLA)-DR3 or HLA-DR4 haplotypes. While these haplotypes are most commonly found in individuals of European ancestry, they have also been found in African-American patients affected with PG. PG has rarely been reported in other ethnic groups, and the HLA association in non-Europeans has not been examined. METHODS: We have characterized eight patients of Mexican ancestry who have PG by clinical, histologic, and immunofluorescence criteria. Class I and class II major histocompatibility complex (MHC) antigens were studied by standard microlymphocytotoxicity assays. Class II MHC antigens were further studied by polymerase chain reaction (PCR) amplification of HLA-DRB1, DQA, and DQB genes and allele-specific oligonucleotide hybridization. For comparison purposes, we used results obtained from a group of 100 ethnically matched healthy individuals. RESULTS: We found that all eight patients had the HLA-DR3/DR4 phenotype; all HLA-DR3 haplotypes were HLA-DRB1*0301, DQA1*0501, and DQB1*0201, whereas half of the HLA-DR4 haplotypes were from the DRB1*0401 subtype and the other half were DRB1 *0407. CONCLUSIONS: These results suggest that, in Mexicans, the genetic susceptibility for the development of PG is strongly influenced by the genetic admixture of Caucasian origin, and the role of class II MHC antigens in the pathophysiology of this disease is confirmed.

Adolescent↗

Immunological evaluation of patients with invasive carcinoma of the gallbladder.

Forty-three patients with invasive adenocarcinoma of the gallbladder were postoperatively studied in order to determine their general immunological status as well as the local immunohistological reaction to the tumor. At the end of the follow-up, they formed two groups: 19 living patients (group GL) and 24 dead patients (group GD). As a control group (GC), 21 patients with cholecystectomy or cholelithiasis and without carcinoma were simultaneously evaluated. In GL, most of the tumors were limited to the gallbladder wall, and in GD, most of the tumors were already disseminated at the time of diagnosis. GD presented a lower percentage of peripheral blood B lymphocytes, as compared to GL and GC cases. Skin tests of delayed hypersensitivity were significantly more reactive in GL cases than in GD cases, and less reactive in GD than in GC cases. The immunohistological evaluation of the gallbladder yielded a lower B lymphocyte infiltration in GD tumors than in the control cases. GL cases showed a higher intratumoral lymphocytic and mononuclear cell infiltration than GD cases. Although the clinical stage was higher in GD than in GL cases, there were also significant differences in the local immune response and the general immunological status. Patients with invasive gallbladder adenocarcinoma showing longer postoperative survival revealed normal or increased local and general immunological reactions, whereas patients with disseminated tumors showed an important humoral and cellular secondary immunodeficiency.

Adenocarcinoma↗

[Changes in the clinical presentation of primary hyperparathyroidism. Analysis of 84 cases].

During the last two decades, the clinical presentation of primary hyperparathyroidism (PHP) has changed due to the routine use of multiphasic biochemical screening tests. We assessed 84 patients with PHP treated in our service between 1977 and 1991. The yearly incidence increased from 1.6 to 7.6 patients/year with the introduction of multiphasic biochemical testing in our hospital in 1982; likewise the proportion of asymptomatic patients increased from 12.5 to 40.7%. The most frequent presenting symptoms were bone pain and renal colic. Nineteen percent of patients were over 70 years old and this age group had distinct clinical features. The plasma chlorine/phosphorus ratio was abnormal in 95% of cases; on the contrary only 7 of 18 patients had a urinary calcium excretion over 300 mg/day. Cervical ultrasound, performed in 45 patients had a positive predictive value of 78% to localize the lesion. Bone density was below fracture threshold in 50% of studied patients. The principal surgical finding was the presence of adenoma. Twenty one percent of patients had symptomatic hypocalcemia during the first week after surgery; however, only 2.5% of patients continued to have hypocalcemia one month after surgery. One patient had an inferior laryngeal nerve damage and two a cervical hematoma. It is concluded that the introduction of massive calcium measurements has allowed an early diagnosis of asymptomatic PHP, specially in elderly people.

Adenoma↗

[Bacteremic pneumonia caused by Citrobacter diversus: report of a case].

A 61 year old male with a localized gastric cancer developed a post-operative pneumonia by C. diversus which was isolated from blood and from bronchoalveolar lavage. A satisfactory response was observed after treatment with penicillin and amikacin. A brief review of the literature concerning the clinical relevance of infections by this unusual agent is offered.

Adenocarcinoma, Mucinous↗