Treatment of acute self-aggressive behaviour in a captive gorilla (Gorilla gorilla gorilla).
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Aggression↗
Biomedical subjects
P Varela
Publications and source records attributed to P Varela.
Factors influencing the fracture of nickel-titanium rotary instruments.
AIM: To evaluate the effect of rotational speed and the angle and radius of curvature of root canals on the fracture of two types of nickel-titanium rotary instruments: K3 and ProTaper. METHODOLOGY: A total of 240 root canals of extracted human maxillary and mandibular molars were divided into two groups of 120, according to the angle of the canal curvature (group A: <30 degrees, group B: >30 degrees). Each group was then divided into two subgroups of 60 canals in order to perform instrumentation using K3 and ProTaper rotary instruments at three different rotational speeds: 150, 250 and 350 r.p.m. (20 canals at each rotational speed). Each instrument was used a maximum of 20 times and at one rotational speed only. The angle and radius of canal curvature were measured in the only group in which fractures actually took place (group B). RESULTS: There were a total of 22 instrument fractures; all of these occurred in canals with curves >30 degree. In a multivariate analysis, it was demonstrated that the files used at a rotational speed of 350 r.p.m. were more likely to fracture than those used at 250 r.p.m. (OR: 1113.88; 95% CI: 2.36-526420.05) and than those used at 150 r.p.m. (OR: 13531.33; 95% CI: 5.37-34120254.00). A decrease in the angle of curvature of the canal also significantly reduced the likelihood of fracture (OR: 0.2083; 95% CI: 0.068-0.6502). These relationships remained significant after being adjusted for the potential interactions between the remaining variables. No significant differences were found between the files or the radii of the canals. CONCLUSIONS: Instrument fracture was associated with rotational speed and the angle of curvature of the canal.
Dental Alloys↗
Phylogeography of crossbills, bullfinches, grosbeaks, and rosefinches.
Mitochondrial cytochrome b (cyt b) from 24 Carduelini species including crossbills, bullfinches, grosbeaks, rosefinches, and other related, but not conclusively classified species, was sequenced. These sequences were also compared with all the available sequences from the genera Carduelis, Serinus, and Passer. Phylogenetic analyses consistently gave the same groups of finches and the calculated divergence times suggest that speciation of the studied species occurred between 14 and 3 million years ago (Miocene-Pliocene), appearing before the Passer, Carduelis, and Serinus genera. Pleistocene glaciations may have been important in sub-speciation. Crossbills are integrated within the genus Carduelis, and within redpolls; the common crossbill shows subspeciation with Loxia japonica in the Pleistocene epoch. Pinicola enucleator groups together with bullfinches and is probably the ancestor of the group. Hawfinch is only distantly related to the studied groups, and might either represent an isolated genus or be related to the New World genus Hesperiphona. The grosbeak genera Eophona and Mycerobas are clearly sister groups, and species belonging to the former might have given rise to Mycerobas species. The isolated (in classification) Uragus sibiricus and Haematospiza sipahi are included within the genus Carpodacus (rosefinches); Carpodacus nipalensis is outside the genus Carpodacus in the molecular analyses and might be an isolated species or related to the genus Montifringilla.
Amino Acid Substitution↗
The Old World sparrows (genus Passer) phylogeography and their relative abundance of nuclear mtDNA pseudogenes.
The phylogenetic relationships of genus Passer (Old World sparrows) have been studied with species covering their complete world living range. Mitochondrial (mt) cyt b genes and pseudogenes have been analyzed, the latter being strikingly abundant in genus Passer compared with other studied songbirds. The significance of these Passer pseudogenes is presently unclear. The mechanisms by which mt cyt b genes become pseudogenes after nuclear translocation are discussed together with their mode of evolution, i.e., transition/transversion mitochondrial ratio is decreased in the nucleus, as is the constraint for variability at the three codon positions. However, the skewed base composition according to codon position (in 1st position the percentage is very similar for the four bases, in 2nd position there are fewer percentage of A and G and more percentage of T, and in 3rd codon position fewer percentage of G and T and is very rich in A and C) is maintained in the translocated nuclear pseudogenes. Different nuclear internal mechanisms and/or selective pressures must exist for explaining this nuclear/mitochondrial differential DNA base evolutive variability. Also, the phylogenetic usefulness of pseudogenes for defining relationships between closely related lineages is stressed. The analyses suggest that the primitive genus Passer species comes from Africa, the Cape sparrow being the oldest: P. hispaniolensis italiae is more likely conspecific to P. domesticus than to P. hispaniolensis. Also, Passer species are not included within weavers or Estrildinae or Emberizinae, as previously suggested. European and American Emberizinae sparrows are closely related to each other and seem to be the earliest species that radiated among the studied songbirds (all in the Miocene Epoch).
Cell Nucleus↗
The origin of Palestinians and their genetic relatedness with other Mediterranean populations.
The genetic profile of Palestinians has, for the first time, been studied by using human leukocyte antigen (HLA) gene variability and haplotypes. The comparison with other Mediterranean populations by using neighbor-joining dendrograms and correspondence analyses reveal that Palestinians are genetically very close to Jews and other Middle East populations, including Turks (Anatolians), Lebanese, Egyptians, Armenians, and Iranians. Archaeologic and genetic data support that both Jews and Palestinians came from the ancient Canaanites, who extensively mixed with Egyptians, Mesopotamian, and Anatolian peoples in ancient times. Thus, Palestinian-Jewish rivalry is based in cultural and religious, but not in genetic, differences. The relatively close relatedness of both Jews and Palestinians to western Mediterranean populations reflects the continuous circum-Mediterranean cultural and gene flow that have occurred in prehistoric and historic times. This flow overtly contradicts the demic diffusion model of western Mediterranean populations substitution by agriculturalists coming from the Middle East in the Mesolithic-Neolithic transition.
Alleles↗
HLA genes in Macedonians and the sub-Saharan origin of the Greeks.
HLA alleles have been determined in individuals from the Republic of Macedonia by DNA typing and sequencing. HLA-A, -B, -DR, -DQ allele frequencies and extended haplotypes have been for the first time determined and the results compared to those of other Mediterraneans, particularly with their neighbouring Greeks. Genetic distances, neighbor-joining dendrograms and correspondence analysis have been performed. The following conclusions have been reached: 1) Macedonians belong to the "older" Mediterranean substratum, like Iberians (including Basques), North Africans, Italians, French, Cretans, Jews, Lebanese, Turks (Anatolians), Armenians and Iranians, 2) Macedonians are not related with geographically close Greeks, who do not belong to the "older" Mediterranenan substratum, 3) Greeks are found to have a substantial relatedness to sub-Saharan (Ethiopian) people, which separate them from other Mediterranean groups. Both Greeks and Ethiopians share quasi-specific DRB1 alleles, such as *0305, *0307, *0411, *0413, *0416, *0417, *0420, *1110, *1112, *1304 and *1310. Genetic distances are closer between Greeks and Ethiopian/sub-Saharan groups than to any other Mediterranean group and finally Greeks cluster with Ethiopians/sub-Saharans in both neighbour joining dendrograms and correspondence analyses. The time period when these relationships might have occurred was ancient but uncertain and might be related to the displacement of Egyptian-Ethiopian people living in pharaonic Egypt.
Africa, Northern↗
The evolution of the MHC-G gene does not support a functional role for the complete protein.
The study of the MHC-G gene evolution during nearly 40 million years does not support a role for the full molecule. The MHC-G-like proteins of New World monkeys are probably classical presenting molecules. Old World Cercopithecinae monkeys do not have a full MHC-G molecule and human individuals homozygous for the HLA-G null allele are healthy and do not show birth pathologies.
Amino Acid Sequence↗
A one-year follow-up study in anorexia nervosa. Dietary pattern and anthropometrical evolution.
OBJECTIVE: To find out the modifications and the interrelationships between the energy and macronutrient intakes and anthropometric measurements of a group of anorexia nervosa patients (ANP), with homogenous diagnosis, age and treatment, during a 1 y follow-up. DESIGN: Longitudinal study design. SUBJECTS: Fourteen restricting-type ANP in the adolescent age (11-21 y) were recruited for the study and evaluated at four time intervals during 1 y of multidisciplinary treatment: (a) on admission (AN0); (b) after 1 month (AN1); (c) after 6 months (AN6); (d) after 1 y (AN12). MEASURES: Energy and macronutrient composition of the diet (48 h recall) and anthropometric measurements including skinfold thickness. RESULTS: Mean weight and BMI were under the 3rd percentile in AN0. All anthropometrical parameters increased significantly in AN1 compared to AN0 and did not change in AN6 and AN12. Energy and macronutrient intakes increased significantly in AN1. The dietary changes were not maintained in the subsequent time intervals and there was an overall tendency to turn back to AN0 results. Energy intake adequacy to Spanish Recommended Intakes (RI) showed only an acceptable ratio in AN1 (94% RI); however, a preserved protein intake was found throughout the study (mean intakes between 128.5% and 230.0% RI). Negative correlations were found at AN12 between size of arm's subcutaneous fat stores and energy and macronutrient intakes. CONCLUSION: In this 1 y follow-up study the decrease in the intake of energy and macronutrients after discharge seems to be related to anthropometric evolution, so that a return to restrictive eating behaviour had occurred in those subjects who had reached the highest values in their subcutaneous fat stores, probably related to dissatisfaction with self-body image.
Adolescent↗
Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.
Three ataxia telangiectasia (AT) patients have been characterized immunologically and molecularly. Patient 1 presents two nondescribed splicing mutations which affect exons 15 and 21 of the ATM gene. The maternal defect consists of a G > A transition in the first nucleotide of the intron 21 donor splicing site which results in a complete deletion of exon 21. The paternal mutation consists of an A > C transversion in the intron 14 acceptor splicing site which produces a partial skipping of exon 15. Two abnormal alternative transcripts were found, respectively, 17 and 41 nucleotides shorter. Patient 2 presents a homozygous genomic deletion of 28 nucleotides in the last exon of the gene. This deletion changes the normal reading frame after residue 3003 of the protein and introduces a premature stop codon at residue 3008 that could originate a truncated ATM protein. Patient 3, a compound heterozygote, presents a defect which consists of a G > A transition in the first nucleotide of intron 62 donor splicing site which results in a complete deletion of exon 62. The results obtained during a three year period in the proliferation assays show an impaired PMA (phorbol myristate acetate) activation in specific T lymphocyte activation pathways (CD69, CD26, CD28, CD3, PHA, PWM and Con A mediated) but not in others (CD2, ionomycin, and Ig surface receptor). The possible link among specific ATM mutations and abnormal immune responses is unknown.
Ataxia Telangiectasia↗
A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency.
Gamma interferon (IFN-gamma) and the cellular responses induced by it are essential for controlling mycobacterial infections. Most patients bearing an IFN-gamma receptor ligand-binding chain (IFN-gammaR1) deficiency present gross mutations that truncate the protein and prevent its expression, giving rise to severe mycobacterial infections and, frequently, a fatal outcome. In this report a new mutation that affects the IFN-gammaR1 ligand-binding domain in a Spanish patient with mycobacterial disseminated infection and multifocal osteomyelitis is characterized. The mutation generates an amino acid change that does not abrogate protein expression on the cellular surface but that severely impairs responses after the binding of IFN-gamma (CD64 and HLA class II induction and tumor necrosis factor alpha and interleukin-12 production). A patient's younger brother, who was also probably homozygous for the mutation, died from meningitis due to Mycobacterium bovis. These findings suggest that a point mutation may be fatal when it affects functionally important domains of the receptor and that the severity is not directly related to a lack of IFN-gamma receptor expression. Future research on these nontruncating mutations will make it possible to develop new therapeutical alternatives in this group of patients.
Base Sequence↗
Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.
Nijmegen breakage syndrome (NBS) is a genetic disorder characterized by immunodeficiency, microcephaly, and "bird-like" facies. NBS shares some clinical features with ataxia telangiectasia (AT), including increased sensitivity to ionizing radiation, increased spontaneous and induced chromosome fragility, and strong predisposition to lymphoid cancers. The mutated gene that results in NBS codes for a novel double-stranded DNA break repair protein, named nibrin. In the present work, a Spanish NBS patient was extensively characterized at the immunological and the molecular DNA levels. He showed low CD3(+)-cell numbers and an abnormal low CD4(+) naive cell/CD4(+) memory cell ratio, previously described in AT patients and also described in the present report in the NBS patient. The proliferative response of peripheral blood lymphocytes in vitro to mitogens is deficient in NBS patients, but the possible link among NBS mutations and the abnormal immune response is still unknown.
B-Lymphocytes↗
ISAfe1, an ISL3 family insertion sequence from Acidithiobacillus ferrooxidans ATCC 19859.
A 1.3-kb insertion sequence, termed ISAfe1 (U66426), from Acidithiobacillus ferrooxidans ATCC 19859 is described. ISAfe1 exhibits the features of a typical bacterial insertion sequence. It has 26-bp, imperfectly matched, terminal inverted repeats and an open reading frame (ORF) that potentially encodes a transposase (TPase) of 404 amino acids (AAB07489) with significant similarity to members of the ISL3 family of insertion sequences. A potential ribosome-binding site and potential -10 and -35 promoter sites for the TPase ORF were identified, and a +1 transcriptional start site was detected experimentally. A potential outwardly directed -35 site was identified in the right inverted repeat of ISAfe1. A second ORF (ORF B), of unknown function, was found on the complementary strand with significant similarity to ORF 2 of ISAe1 from Ralstonia eutropha. Southern blot analyses demonstrated that ISAfe1-like elements can be found in multiple copies in a variety of A. ferrooxidans strains and that they exhibit transposition. A codon adaptation index (CAI) analysis of the TPase of ISAfe1 indicates that is has a CAI of 0.726 and can be considered well adapted to its host, suggesting that ISAfe1 might be an ancient resident of A. ferrooxidans. Analysis of six of its target sites of insertion in the genome of A. ferrooxidans ATCC 19859 indicates a preference for 8-bp pseudopalindromic sequences, one of which resembles the termini of its inverted repeats. Evidence is presented here that is consistent with the possibility that ISAfe1 can promote both plasmid cointegrate formation and resolution in E. coli.
Codon↗
A new HLA-Cw allele (Cw*0808) found in a Colombian Mestizo individual possibly generated by an intralocus/interloci gene conversion.
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Adult↗
Evolution of MHC-G in humans and primates based on three new 3'UT polymorphisms.
MHC-G is a class Ib (non-classical) major histocompatibility complex (MHC) whose functional and evolutionary characteristics are still under scrutiny. The study of noncoding sequences in the MHC genes may provide important phylogenetic information. In this work we have sequenced the MHC-G exon 8, which encodes for the 3'UT region, in different species of primates. It has been shown that: (1) a previously described 14 base pair (bp) deletion polymorphism is human-specific and the HLA-G alleles may be classified according to its absence or presence; (2) another newly described 3 bp deletion/insertion polymorphism is also human-specific; and (3) another newly described 51 bp deletion polymorphism is common to Pongidae and humans, but is not found in other primates belonging to the Cercopithecinae family. A hypothesis on the evolutionary pathway of this gene is put forward in the light of these findings.
3' Untranslated Regions↗
Lack of MHC-G4 and soluble (G5, G6) isoforms in the higher primates, Pongidae.
HLA-G is a class Ib (nonclassical) major histocompatibility complex (MHC) protein expressed at the materno-fetal interface that may inhibit natural killer (NK) cell-mediated lysis in an allotype-independent manner. The human MHC-G transcript is differentially spliced, giving rise to at least six different forms. In order to study the evolutionary importance of this phenomenon, the presence of alternative splicing in MHC-G mRNA molecules from Pongidae (Chimpanzee, Gorilla, and Orangutan) has been investigated in the present work, and three alternative spliced isoforms (i.e.: G1, G2, and G3) have been found, but not the G4 and the soluble G5 and G6 ones. In addition, a novel MHC-G isoform is described in Gorilla, "G2 short." This molecule is similar to the G2 isoform, but it lacks 29 amino acids normally encoded by exon 4. Our findings suggest that soluble isoforms are not necessary for MHC-G function(s) in Pongidae or that MHC-G is not a functional protein, because G1 is not necessary for survival in humans and Cercopithecinae bear stop codons in MHC-G exon 3.
Animals↗
Homozygous HLA-G*0105N healthy individuals indicate that membrane-anchored HLA-G1 molecule is not necessary for survival.
HLA-G is expected to play an important role during fetal development. Recently, a healthy individual homozygous for the HLA-G*0105N allele has been described, suggesting that HLA-G expression was not essential for fetal survival. We now report studies of one family with five healthy siblings homozygous for HLA-G*0105N, who had been normally delivered; three of these siblings were females who also had normal deliveries. In addition, HLA-G*0105N cDNA has been fully sequenced, and normal G1 membrane anchored protein cannot be translated since after the codon 130 cytosine deletion (exon 3) a reading frameshift is observed leading to the existence of premature stop codon at position 189 (beginning of exon 4). Other protein isoforms (G2, G3 and G6), all containing the leader peptide and the alpha1 domain, are possible and their messenger mRNAs were found; any of these may undertake the necessary HLA-G functions. Our data show that the membrane anchored HLA-G molecule is not necessary in either mother or fetus for a normal pregnancy and survival. Also, individuals homozygous for HLA-G*0105N are healthy and with no indications of immunodeficiency or autoimmunity.
Alleles↗
A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans.
Leucocyte adhesion deficiency (LAD) is an autosomal-recessive genetic disease that is characterized clinically by severe bacterial infections and caused by mutations in the CD18 gene that codes for the beta2 integrin subunit. A patient with a severe LAD phenotype was studied and the molecular basis of the disease was identified as a single homozygous defect in a Herpes virus saimiri (HVS)-transformed T-cell line. The defect identified involves a deletion of 171 bp in the cDNA that encodes part of the proteic extracellular domain. This genetic abnormality was further studied at the genomic DNA level and found to consist of a deletion of 169 bp (from -37 of intron 4 to +132 of exon 5), which abolishes the normal splicing and results in the total skipping of exon 5. The 171-bp shortened 'in-frame' mRNA not only resulted in the absence of CD18 expression on the cell surface but also in its absence in the cytoplasm of HVS T-cell lines. Functionally, the LAD-derived HVS T-cell lines showed a severe, selective T-cell activation impairment in the CD2 (but not in the CD3) pathway. This defect was not reversible when exogenous interleukin-2 (IL-2) was added, suggesting that there is also a functional interaction of the lymphocyte function-associated antigen-1 (LFA-1) protein in the CD2 signal transduction pathway in human T cells, as has been previously reported in mice and in the human Papillon-Lefèvre syndrome. Thus, HVS transformation is not only a suitable model for T-cell immunodeficiency studies and characterization, but is also a good system for investigating the immune system in pathological conditions. It may also be used in the future in cellular models for in vitro gene-therapy trials.
Base Sequence↗
Oral lichen planus induced by interferon-alpha-N1 in a patient with hepatitis C.
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Adult↗