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1.
Med Oral Patol Oral Cir Bucal ; 27(4): e397-e402, 2022 Jul 01.
Article in English | MEDLINE | ID: mdl-35660730

ABSTRACT

BACKGROUND: Ameloblastomas are benign odontogenic tumors that can eventually mimic the clinical and radiological features of apical periodontitis. The aim of the present study was to evaluate the clinical, radiological and histological characteristics from a series of ameloblastomas mimicking apical periodontitis diagnosed in a 14-year period. MATERIAL AND METHODS: all cases histologically diagnosed as ameloblastomas from 2005 to 2018 presenting a clinical diagnosis of periapical lesion of endodontic origin were selected for the study. Clinical, radiological and histological characteristics from all cases were tabulated and descriptively and comparatively analyzed. RESULTS: Twenty cases composed the final sample, including 18 solid and 2 unicystic ameloblastomas. Mean age of the affected patients was in the fifth decade with predilection for males (72%). The most common anatomical location was the posterior mandible (55%) and most cases presented a radiolucent unilocular (80%) well-defined (95%) image. Most cases were asymptomatic, but the presence of local swelling and bone cortical rupture were common. CONCLUSIONS: Ameloblastomas mimicking periapical lesions of endodontic origin are mostly diagnosed in adult males as well-defined radiolucent unilocular lesions producing local swelling and bone cortical rupture.


Subject(s)
Ameloblastoma , Odontogenic Tumors , Periapical Periodontitis , Adult , Ameloblastoma/diagnosis , Ameloblastoma/pathology , Humans , Male , Odontogenic Tumors/pathology , Periapical Periodontitis/diagnosis , Radiography
2.
Int J Audiol ; 57(6): 426-439, 2018 06.
Article in English | MEDLINE | ID: mdl-29188740

ABSTRACT

OBJECTIVES: Previous studies show that intracochlear electrical stimulation independent of environmental sounds appears to suppress tinnitus, even long-term. In order to assess the viability of this potential treatment option it is essential to study the effects of this tinnitus specific electrical stimulation on speech perception. DESIGN: A randomised, prospective crossover design. STUDY SAMPLE: Ten patients with unilateral or asymmetric hearing loss and severe tinnitus complaints. RESULTS: The audiological effects of standard clinical CI, formal auditory training and tinnitus specific electrical stimulation were investigated. Results show that standard clinical CI in unilateral or asymmetric hearing loss is shown to be beneficial for speech perception in quiet, speech perception in noise and subjective hearing ability. Formal auditory training does not appear to improve speech perception performance. However, CI-related discomfort reduces significantly more rapidly during CI rehabilitation in subjects receiving formal auditory training. Furthermore, tinnitus specific electrical stimulation has neither positive nor negative effects on speech perception. CONCLUSIONS: In combination with the findings from previous studies on tinnitus suppression using intracochlear electrical stimulation independent of environmental sounds, the results of this study contribute to the viability of cochlear implantation based on tinnitus complaints.


Subject(s)
Correction of Hearing Impairment/methods , Electric Stimulation Therapy/methods , Hearing Loss, Sensorineural/rehabilitation , Hearing Loss, Unilateral/rehabilitation , Tinnitus/rehabilitation , Adult , Aged , Cochlea/physiopathology , Cochlear Implantation , Cochlear Implants , Cross-Over Studies , Female , Hearing Loss, Sensorineural/complications , Hearing Loss, Sensorineural/psychology , Hearing Loss, Unilateral/complications , Hearing Loss, Unilateral/psychology , Humans , Male , Middle Aged , Noise , Prospective Studies , Speech Perception/physiology , Tinnitus/etiology , Tinnitus/psychology , Treatment Outcome
3.
Br J Nutr ; 115(6): 1061-70, 2016 Mar 28.
Article in English | MEDLINE | ID: mdl-26810764

ABSTRACT

A comprehensive estimation of polyphenol intake is needed to gain a better understanding of the association between polyphenol-rich food intake and the potential effects of this intake on chronic diseases. The aim of this study was to estimate the intake of polyphenols and the major dietary contributors in the population of Sao Paulo. Data were obtained from the Health Survey-São Paulo (ISA-Capital 2008) and were reported for 1103 adults and elderly adults. Food intake was estimated by one 24-h dietary recall (24HR). Polyphenol intake was calculated by matching food consumption data from the 24HR with the polyphenol content in foods listed in the Phenol-Explorer database. The mean total intake of polyphenols was 377·5 (se 15·3) mg/d. The main polyphenol classes were phenolic acids (284·8 (se 15·9) mg/d) and flavonoids (54·6 (se 3·5) mg/d). Intakes were higher in the elderly adults than in other adults (P<0·001) and higher in individuals with lower educational level (P=0·01) and current smokers (P=0·02). The main dietary contributors for total polyphenols were coffee (70·5 %), citrus fruits (4·6 %) and tropical fruits (3·4 %). Coffee was the major source of polyphenols, providing 266·2 (se 16·5) mg/d, and contributed 92·3 % of the phenolic acids and 93·1 % of the alkylmethoxyphenols. These findings will be useful for assessing the potential role on health of polyphenols and specific polyphenol-rich foods, such as coffee, and enable a comparison with people from other countries.


Subject(s)
Anticarcinogenic Agents/administration & dosage , Antioxidants/administration & dosage , Diet , Flavonoids/administration & dosage , Phenols/administration & dosage , Adult , Aged , Aged, 80 and over , Anticarcinogenic Agents/analysis , Antioxidants/analysis , Brazil , Coffee/chemistry , Cross-Sectional Studies , Databases, Factual , Flavonoids/analysis , Food Analysis , Fruit and Vegetable Juices/analysis , Humans , Middle Aged , Nutrition Surveys , Phenols/analysis , Polyphenols/administration & dosage , Polyphenols/analysis , Urban Health , Young Adult
4.
Br J Nutr ; 113(8): 1301-7, 2015 Apr 28.
Article in English | MEDLINE | ID: mdl-25812604

ABSTRACT

High meat intake has been related to chronic diseases such as cancer and CVD. One hypothesis is that heterocyclic amines (HCA), which are formed during the cooking process of meat, can generate reactive species. These compounds can cause oxidation of lipids, proteins and DNA, resulting in oxidative stress, cell damage and loss of biological function. This association has been seen in vitro; however, it remains unclear in vivo. The aim of the present study was to investigate the association between oxidative stress and HCA intake, and oxidative stress and meat intake. Data were from the Health Survey for Sao Paulo--ISA-Capital (561 adult and elderly). Food intake was estimated by one 24-h dietary recall (24HR) complemented by a detailed FFQ with preferences of cooking methods and level of doneness for meat. HCA intake was estimated linking the meat from the 24HR to a database of HCA. Oxidative stress was estimated by malondialdehyde (MDA) concentration in the plasma, after derivatisation with thiobarbituric acid and quantification by HPLC/diode array. Analyses were performed using multivariate logistic regressions adjusted for smoking, sex, age, BMI, skin colour, energy intake, fruit and vegetable intake, and physical activity. A positive association between HCA intake and MDA concentration (OR 1·17; 95% CI 1·01, 1·38) was observed, showing that HCA from meat may contribute to increase oxidative stress, and may consequently increase the risk of chronic diseases.


Subject(s)
Amines/chemistry , Diet , Meat/analysis , Oxidative Stress , Adolescent , Adult , Aged , Anthropometry , Body Mass Index , Brazil , Chromatography, High Pressure Liquid , Cross-Sectional Studies , Feeding Behavior , Female , Humans , Male , Malondialdehyde/blood , Middle Aged , Multivariate Analysis , Reactive Oxygen Species , Thiobarbituric Acid Reactive Substances , Young Adult
5.
Arch. alerg. inmunol. clin ; 46(1): 15-19, 2015. ilus
Article in Spanish | LILACS | ID: biblio-916117

ABSTRACT

Para evaluar la efi cacia y seguridad de la inmunoterapia subcutánea (ITSC) con extractos de ácaros, se realizó un ensayo clínico doble ciego controlado con placebo en 154 pacientes mayores de 18 años con rinoconjuntivitis alérgica y/o asma bronquial. La ITSC se administró en una fase de incremento de dosis durante 13 semanas y una fase de mantenimiento con inyecciones mensuales. Como placebo se dieron inyecciones de solución diluyente. Se evaluó la efi cacia según calidad de vida, consumo de medicamentos y frecuencia de las crisis. Se aplicaron los cuestionarios de calidad de vida para rinoconjuntivitis (RQLQ) y cuestionario de calidad de vida para asma (AQLQ). La seguridad se midió según eventos adversos locales y sistémicos. Concluyeron el estudio 136 pacientes (77 con tratamiento y 59 controles). En ambos grupos hubo incremento de la puntuación de los cuestionarios de calidad de vida, mayores en el grupo de estudio (p=0,010). El consumo de medicamentos descendió en rinoconjuntivitis y asma, tanto en el grupo de estudio como en el grupo placebo, sin diferencias signifi cativas entre ambos (p=0,083). La frecuencia de las crisis de rinitis y asma disminuyeron en la muestra, con más reducción en el grupo de tratamiento (p= 0,027). Se reportaron reacciones locales y sistémicas ligeras en ITSC, no así en el grupo placebo, p=0,0003. Los resultados revelan que la inmunoterapia subcutánea con ácaros es efi caz y segura en pacientes con rinoconjuntivitis alérgica y asma(AU)


To evaluate the effi cacy and safety of subcutaneous immunotherapy (SCIT) a double-blind placebo controlled clinical trial was performed with mite extracts in 154 patient's 18-years elders, with allergic rhinoconjunctivitis and/or bronchial asthma. The SCIT was administered in an increased dosage phase for a 13 week period followed by a maintenance phase with monthly injections. Diluted solution injections were given as placebo. Effi cacy was evaluated according to quality of life, medication use, and frequency of crisis. Rhinoconjunctivitis quality of life questionnaire (RQLQ) and asthma quality of life questionnaire (AQLQ) were applied. Safety was measured according to local and systemic adverse events. 136 patients completed the study (77 with SCIT and 59 with placebo). In both groups there was an increase in the score of quality of life questionnaires, score was higher in SCIT (p = 0.010). Medication use declined in both rhinitis and asthma in the SCIT group as in the placebo group with no signifi - cant difference between them (p=0,083). The frequency of rhinoconjunctivitis and asthma crisis decreased in the study group, with a greater reduction in the treatment group (p=0.027). Slight local and systemic reactions were reported in SCIT, none in the placebo group, p=0.0003. The results indicate that subcutaneous immunotherapy with mites is effective and safe in patients with allergic rhinoconjunctivitis and asthma(AU)


Subject(s)
Humans , Male , Female , Immunotherapy , Mites/immunology , Asthma , Conjunctivitis, Allergic , Rhinitis
6.
Parasite Immunol ; 34(8-9): 440-3, 2012.
Article in English | MEDLINE | ID: mdl-22670842

ABSTRACT

American tegumentary leishmaniasis (ATL) is a disease whose clinical features are strongly related to the type of immune response it induces. Herein we report an atypical presentation of cutaneous leishmaniasis in a woman with a severe and extensive sore located in her leg, and we describe the differences between the usual local immune response in ATL and the local immune response in this patient. We observed an intense inflammatory response characterized by Th1 cells and cytokines with conspicuous expression of Toll-like receptor 3 (TLR-3). Few parasites were present, but there was an extensive tissue damage. We also discuss the immunological factors that could be related to the atypical presentation.


Subject(s)
Leishmaniasis, Cutaneous/immunology , Leishmaniasis, Cutaneous/pathology , Skin/immunology , Skin/pathology , Th1 Cells/immunology , Adult , Cytokines/immunology , Female , Humans , Leg/pathology , Toll-Like Receptor 3/biosynthesis
7.
Int J Immunogenet ; 38(6): 483-91, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21933351

ABSTRACT

Two different sets of noncoding markers (microsatellites and Alu elements) from the human chromosome six were analysed in 106 individuals from Valencia (Spain), with the aim of exploring the effect of evolutionary forces on the genetic variability of the major histocompatibility complex (MHC) and assessing the potential usefulness of these genetic loci in phylogenetic studies. Linkage disequilibrium (LD) analyses revealed statistically significant associations among markers located in the MHC class I region, and also between the microsatellite D6S2792 and several genetic loci from MHC class I, II and III regions. Results of the Ewens-Watterson test indicated that only D6S2792 showed significant departure from selective neutrality. Despite the paucity of haplotype data in the literature, results of the phylogenetic analyses at world scale (Alu elements) showed that the genetic relationships of Valencia were mainly determined by the ethnic ancestry of the populations considered, whereas at European scale (microsatellites) population affinities were strongly influenced by geography. Our findings suggest that noncoding markers from the MHC such as Alu and microsatellite loci might have a potential value as lineage (ancestry) markers in investigations into evolutionary, medical and forensic perspectives.


Subject(s)
Alu Elements/genetics , Linkage Disequilibrium/genetics , Major Histocompatibility Complex/genetics , Microsatellite Repeats/genetics , Chromosomes, Human, Pair 6/genetics , Gene Frequency/genetics , Genetic Variation , Haplotypes/genetics , Humans , Phylogeny , Spain
8.
Int J Immunogenet ; 37(4): 279-87, 2010 Aug.
Article in English | MEDLINE | ID: mdl-20518836

ABSTRACT

Five short tandem repeats (STRs) located at human chromosome 6 were analysed in 97 autochthonous Basques from Guipuzcoa (northern Spain), with the aim of assessing the genetic relationships of Basques at a European scale, based on the variability of the major histocompatibility complex (MHC) region, and comparing the phylogenetic information obtained from STRs, and from HLA class I genes (HLA-A and HLA-B) for the same set of European populations. The integrative approach was focused on D6S265 and D6S2792, according to availability of population databases. F(ST) genetic distances obtained from STRs and from HLA loci were very similar, thereby describing a comparable pattern of genetic structuring among the European populations. These findings were supported by results of the Mantel test of matrix correspondence (r = 0.796, P = 0.0022) and by significant correlations between the first two F(ST) eigenvectors of STRs and HLA genes. Coinciding with previous phylogenetic studies, Basques showed substantial genetic differentiation within the European context, probably as a result of the impact of random genetic drift and high inbreeding levels for extended periods of isolation even from adjacent populations. Analysis of the geographical distribution of the allele frequencies revealed a great number of latitudinal frequency clines in both the MHC STRs and the HLA class I genes, which supports the notion of the post-glacial resettlement of Europe being a crucial factor in the genetic make-up of Europeans. Our results indicate that analysing the genetic variability of MHC microsatellites could be a suitable strategy in evaluating the role of evolutionary forces such as natural selection (because of genetic hitchhiking effect), genetic drift and gene flow in the maintenance of polymorphism at the MHC region, because STRs can efficiently complement the genetic information obtained from HLA genes.


Subject(s)
Chromosomes, Human, Pair 6/genetics , Ethnicity/genetics , Founder Effect , Genetic Variation/genetics , Major Histocompatibility Complex/genetics , Microsatellite Repeats/genetics , Consanguinity , Ethnicity/history , Europe , Genes, MHC Class I , Genetic Drift , HLA-A Antigens/genetics , HLA-B Antigens/genetics , History, Ancient , Humans , Spain
9.
Phys Rev Lett ; 104(8): 086101, 2010 Feb 26.
Article in English | MEDLINE | ID: mdl-20366951

ABSTRACT

We study the behavior of an ink-paper interface in a spontaneous imbibition experiment as a function of time and paper orientation. To characterize the interface roughness the growth beta and Hurst H exponents (calculated using the root mean square interface width W) and the H{q} scaling exponent (calculated using the qth order height-height correlation function) are used. Our results indicate that the values of H and H{q} depend on the orientation of the paper sheets, while beta does not, and that the interface exhibits a multiaffine character during all its evolution.

10.
Am J Hum Biol ; 20(1): 91-9, 2008.
Article in English | MEDLINE | ID: mdl-17957762

ABSTRACT

The genomic diversity of the Arrernte people of Australia or caterpillar people was investigated utilizing 13 autosomal short tandem repeat (STR) markers. Significant departures from Hardy-Weinberg equilibrium were detected at the D18S51, TPOX and CSF1PO loci, which persisted after applying the Bonferroni correction. Gene diversity values oscillate between 0.6302 (CSF1PO) and 0.8731 (D21S11). Observed heterozygosity (Ho) ranges from 0.2632 (D18S51) to 0.8333 (vWA) and is lower than the expected heterozygosity (He) for 12 of the 13 loci analyzed. The genetic relationships of the Arrernte with Middle Eastern, East Asian, South Asian and Indian populations were analyzed by distance-based methods, including Neighbor-Joining trees and nonmetric multidimensional scaling. In addition, the genetic contribution of the populations included in the analysis to the Arrernte gene pool was estimated utilizing weighted least square coefficients. Although the Arrernte population exhibits a remarkable level of genetic differentiation, results of the phylogeographic analyses based on autosomal microsatellite data suggest a certain degree of genetic relatedness between the Arrernte tribe of Australia and populations from the Indian subcontinent. In contrast, the STR diversity analyses failed to detect substantial East Asian contribution to the genetic background of the Arrernte group.


Subject(s)
Gene Frequency/genetics , Genetics, Population , Microsatellite Repeats/genetics , Native Hawaiian or Other Pacific Islander/genetics , Genetic Markers , Genotype , Humans , Linkage Disequilibrium/genetics , Native Hawaiian or Other Pacific Islander/ethnology , Northern Territory , Phylogeny
11.
J Hum Genet ; 52(4): 317-327, 2007.
Article in English | MEDLINE | ID: mdl-17277899

ABSTRACT

Eight Alu sequences (ACE, TPA25, PV92, APO, FXIIIB, D1, A25 and B65) were analyzed in two samples from Navarre and Guipúzcoa provinces (Basque Country, Spain). Alu data for other European, Caucasus and North African populations were compiled from the literature for comparison purposes to assess the genetic relationships of the Basques in a broader geographic context. Results of both MDS plot and AMOVA revealed spatial heterogeneity among these three population clusters clearly defined by geography. On the contrary, no substantial genetic heterogeneity was found between the Basque samples, or between Basques and other Europeans (excluding Caucasus populations). Moreover, the genetic information obtained from Alu data conflicts with hypotheses linking the origin of Basques with populations from North Africa (Berbers) or from the Caucasus region (Georgia). In order to explain the reduced genetic heterogeneity detected by Alu insertions among Basque subpopulations, values of the Wright's F(ST )statistic were estimated for both Alu markers and a set of short tandem repeats (STRs) in terms of two geographical scales: (1) the Basque Country, (2) Europe (including Basques). In the Basque area, estimates of Wahlund's effect for both genetic markers showed no statistical difference between Basque subpopulations. However, when this analysis was performed on a European scale, F(ST) values were significantly higher for Alu insertions than for STR alleles. From these results, we suggest that the spatial heterogeneity of the Basque gene pool identified in previous polymorphism studies is relatively recent and probably caused by a differential process of genetic admixture with non-Basque neighboring populations modulated by the effect of a linguistic barrier to random mating.


Subject(s)
Alu Elements/genetics , Ethnicity/genetics , Polymorphism, Genetic , White People/ethnology , Gene Frequency , Humans , Spain/ethnology
12.
Am J Hum Biol ; 18(2): 187-95, 2006.
Article in English | MEDLINE | ID: mdl-16493641

ABSTRACT

In this work, eight human-specific Alu insertion polymorphisms (ACE, TPA25, PV92, APO, FXIIIB, D1, A25, and B65) were typed in 106 unrelated healthy individuals born in the province of Valencia (Spain), with the aim of analyzing the genetic relationships between this region of the Iberian Peninsula and other Mediterranean populations. To that end, Alu data on Eastern European, Western European, and North African populations were compiled from previous studies. The genetic information was stressed by means of genetic distances (R matrix method), nonmetric multidimensional scaling (MDS) and analyses of molecular variance (AMOVA). In Valencia, the most common Alu insertion was APO (0.940), and the least frequent was A25 (0.104). The average gene diversity (GD) computed for the sample examined was comparatively high (0.382). The insertion frequencies estimated for the eight Alu markers were very similar to the mean frequencies calculated for the whole set of populations included in the study, suggesting the hybrid nature of the Valencia's gene pool. MDS and AMOVA results generated from Alu data reveal that the Mediterranean has acted as a strong genetic boundary between the north (Europe) and the south (Northern Africa), resulting in significant gene diversity between the populations of the two regions. Restricted exclusively to the European scope, we suggest the possibility that the Mediterranean could have also acted as a migratory passageway, propitiating the dissemination of cultures and genes between the east and west of Europe and giving rise to some homogenization of gene frequencies among coastal dwelling populations.


Subject(s)
Alu Elements/genetics , Emigration and Immigration , Evolution, Molecular , Phylogeny , Polymorphism, Genetic , Gene Frequency , Genetic Variation , Humans , Mediterranean Region , Spain
13.
Forensic Sci Int ; 152(2-3): 259-62, 2005 Sep 10.
Article in English | MEDLINE | ID: mdl-15978353

ABSTRACT

Allelic frequencies of 13 STR loci (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D16S539, TH01, TPOX, CSF1PO, and D7S820) were estimated from a sample of 73 unrelated healthy donors natives of the Spanish Basque province of Vizcaya. These STR loci constitute the core of polymerase chain reaction (PCR)-based DNA genetic markers in the US Combined DNA Index System (CODIS). All STR loci analysed met Hardy-Weinberg expectations. Based upon the allelic frequencies, forensically important parameters including gene diversity (GD), polymorphism information content (PIC) and power of discrimination (PD) were calculated.


Subject(s)
Gene Frequency , Genetics, Population , Tandem Repeat Sequences , DNA Fingerprinting , Humans , Polymerase Chain Reaction , Spain
14.
Hum Biol ; 77(6): 825-51, 2005 Dec.
Article in English | MEDLINE | ID: mdl-16715840

ABSTRACT

Human population characteristics at the genetic level are integral to both forensic biology and population genetics. This study evaluates biparental microsatellite markers in five Austronesian-speaking groups to characterize their intra- and interpopulation differences. Genetic diversity was analyzed using 15 short tandem repeat (STR) loci from 338 unrelated individuals from 5 Pacific islands populations, including the aboriginal Ami and Atayal groups from Taiwan, Bali and Java in Indonesia, and the Polynesian islands of Samoa. Allele frequencies from the STR profiles were determined and compared to other geographically targeted worldwide populations procured from recent literature. Hierarchical AMOVA analysis revealed a large number of loci that exhibit significant correspondence to linguistic partitioning among groups of populations. A pronounced divide exists between Samoa and the East (Formosa) and Southeast Asian (Bali and Java) islands. This is clearly illustrated in the topology of the neighbor-joining tree. Phylogenetic analyses also indicate clear distinctions between the Ami and Atayal and between Java and Bali, which belie the respective geographic proximities of the populations in each set. This differentiation is supported by the higher interpopulation variance components of the Austronesian populations compared to other Asian non-Austronesian groups. Our phylogenetic data indicate that, despite their linguistic commonalities, these five groups are genetically distinct. This degree of genetic differentiation justifies the creation of population-specific databases for human identification.


Subject(s)
Asian People/genetics , Genetic Markers , Genetic Variation , Genetics, Population , Native Hawaiian or Other Pacific Islander/genetics , Tandem Repeat Sequences/genetics , Gene Amplification , Humans , Pacific Islands , Phylogeny
15.
Tissue Antigens ; 64(3): 264-75, 2004 Sep.
Article in English | MEDLINE | ID: mdl-15304007

ABSTRACT

In this work, a sample of 116 individuals from an autochthonous Basque population (northern Navarre, Spain) was typed at the DNA level for HLA-DPA1 and HLA-DPB1 loci, with the aim of analysing the genetic polymorphism and the linkage disequilibrium (LD) of the HLA-DP region. In this Basque subpopulation, the most frequent alleles were *0103 (0.767) and *0201 (0.185) for DPA1 locus, whereas for DPB1 locus the *0401 allele was predominant (0.307). Accordingly, the most frequent haplotype was DPA1*0103-DPB1*0401 (0.300), which showed a significant LD. However, the haplotypes that most differentiated the sample of Navarre from other worldwide populations already analysed were DPA1*0105-DPB1*1901 (0.011) and DPA1*0201-DPB1*7601 (0.021), both of which showed a strong LD. Analysis of the relationships between populations based on data provided by HLA-DPA1 and HLA-DPB1 loci revealed a high genetic affinity between the Basque samples (North Navarre and Guipúzcoa), which, in turn, tend to plot separately from the remaining European populations. Gene frequency clines for DPB1*01, DPB1*04 and DPB1*11 alleles among European populations are reported for the first time. These alleles showed maximum values of F(ST) (0.033, 0.034 and 0.025, respectively). Various evolutionary forces were considered in discussing the origin of the spatial structuring of the gene frequencies: (i) gene flow, argued from the hypotheses of Post-glacial recolonization from southern Europe or the demic diffusion of farmers from the Near East into Europe, and (ii) the existence of selective pressures that could have generated genetic microdifferentiation.


Subject(s)
Genetic Variation , HLA-DP Antigens/genetics , Linkage Disequilibrium , Polymorphism, Genetic , Gene Frequency , Genetics, Population , HLA-DP alpha-Chains , HLA-DP beta-Chains , Haplotypes , Humans , Spain
16.
Tissue Antigens ; 61(6): 465-74, 2003 Jun.
Article in English | MEDLINE | ID: mdl-12823770

ABSTRACT

In this work, a sample of 112 individuals from an autochthonous Basque population (Northern Navarre, Spain) were typed at the DNA level for the HLA-DQA1 locus, with the aim of characterizing its polymorphism and analyzing the genetic relationships of Basque Navarrese with other Caucasian populations. Northern Navarre is a neighboring area with Guipúzcoa, a province located in the core of the Basque territory having the highest proportion of Basque-speakers. In Navarrese population, the most frequent alleles were DQA1*01 (0.375) and DQA1*02 (0.259). Frequency clines for both DQA1*0103 allele and DQA1*04* allele cluster (including DQA1*0401, DQA1*0501 and DQA1*0601) among the European and Mediterranean populations considered are reported for the first time. Furthermore, a spatial structuring previously described for DQA1*02 allele is corroborated. The information provided by the highly polymorphic HLA-DQA1 locus was stressed by using genetic distances and non-metrical multidimensional scaling (MDS). The analysis of genetic relationships among populations showed a high genetic affinity between the Basque subpopulations of Northern Navarre and Guipúzcoa, which in turn tended to plot separately from the remaining European and Mediterranean populations. In the same way, the Basques showed no clear relationship to North African populations, as postulated in several previous HLA studies. The observed genetic heterogeneity seems to be conditioned by the high frequencies of the DQA1*02 allele in Basques from Guipúzcoa and North Navarre. These two subpopulations seem to show low levels of admixture with other non-Basque neighboring populations, probably because of their deeply rooted ethnicity and the existence of a linguistic barrier to random mating.


Subject(s)
Ethnicity/genetics , HLA-DQ Antigens/genetics , Polymorphism, Genetic , White People/genetics , DNA/genetics , DNA Primers , Gene Amplification , Gene Frequency , Genetic Heterogeneity , Genetic Variation , Genetics, Population , HLA-DQ alpha-Chains , Histocompatibility Testing , Humans , Mediterranean Sea , Polymerase Chain Reaction , Spain
17.
Acta Med Port ; 12(12): 357-66, 1999 Dec.
Article in Portuguese | MEDLINE | ID: mdl-10892438

ABSTRACT

Kaposi's sarcoma is the most common neoplasm in AIDS patients. In a 12-year period, 45 (8%) cases were diagnosed in 552 patients with AIDS. Epidemiological and clinical aspects are reviewed. The disease occurred predominantly in males and homosexuals. In 30 (67%) patients it was the first manifestation of AIDS. Skin and/or oral disease was the most frequent manifestation observed in our patients; 13 (29%) had visceral involvement. Previous or concommitant opportunistic diseases, systemic illness and severe immunosuppression were present in the majority of the patients. Opportunistic infections were the cause of death in 30 patients; in five others, Kaposi's sarcoma was responsible for death. Advances in antiretroviral therapy were of benefit for patients submitted to chemotherapy and may contribute to a reduction in morbidity with this neoplasm.


Subject(s)
HIV Infections/complications , Sarcoma, Kaposi/complications , Adolescent , Adult , Female , HIV Infections/blood , Humans , Male , Middle Aged , Sarcoma, Kaposi/blood , Sarcoma, Kaposi/drug therapy , Sarcoma, Kaposi/epidemiology
18.
J Clin Pharm Ther ; 21(4): 229-36, 1996 Aug.
Article in English | MEDLINE | ID: mdl-8933296

ABSTRACT

Haloperidol, the most studied antipsychotic drug, is the only one about which reliable statements on the relationship between blood levels and clinical outcome can be made. A systematic overview was undertaken to determine whether there was an optimum blood concentration range for clinical efficacy. Eighteen published studies which provided individual patient data in tables or graphs were reviewed. Clinical benefits tended to decline when the haloperidol blood concentration was increased above 26 ng/ml. Our data support the existence of a therapeutic window between 4 and 26 ng/ml for haloperidol in the treatment of schizophrenic, schizoaffective and schizophreniform disorders.


Subject(s)
Antipsychotic Agents/blood , Haloperidol/blood , Schizophrenia/blood , Analysis of Variance , Antipsychotic Agents/therapeutic use , Dose-Response Relationship, Drug , Haloperidol/therapeutic use , Humans , Psychiatric Status Rating Scales , Schizophrenia/drug therapy , Treatment Outcome
19.
Diagn Microbiol Infect Dis ; 22(1-2): 125-7, 1995.
Article in English | MEDLINE | ID: mdl-7587025

ABSTRACT

We treated 256 children who had identified bacterial meningitis with cefotaxime. Causative organisms were: Neisseria meningitidis in 108 cases, Streptococcus pneumoniae in 61, Haemophilus influenzae in 60, enteric Gram-negative bacilli in 21, and Staphylococcus spp. in six. Daily doses of cefotaxime were 150-200 mg/kg. A total of 240 patients (93.7%) were cured. In the cured patients, sterilization of cerebrospinal fluid was obtained in the first 72 h of treatment in 214 (80.0%). Cefotaxime is an effective and safe drug for the treatment of childhood bacterial meningitis.


Subject(s)
Cefotaxime/therapeutic use , Cephalosporins/therapeutic use , Meningitis, Bacterial/drug therapy , Adolescent , Cefotaxime/administration & dosage , Cephalosporins/administration & dosage , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Infusions, Intravenous , Male , Meningitis, Bacterial/cerebrospinal fluid , Meningitis, Bacterial/microbiology , Meningitis, Bacterial/mortality , Portugal , Survival Rate , Treatment Outcome
20.
Rev Port Cardiol ; 13(12): 901-11, 1994 Dec.
Article in English | MEDLINE | ID: mdl-7873220

ABSTRACT

PURPOSE: To evaluate the cardiac involvement in Human Immunodeficiency Virus (HIV) infection. DESIGN: Prospective and normal individuals group controlled study. SETTING: The departments of cardiology and infectious diseases of an university hospital. PATIENTS: 137 consecutive HIV infected patients at all stages of the infection and 40 normal noninfected controls. MEASUREMENTS AND MAIN RESULTS: Clinical and echocardiographic evaluation was performed. Cardiac symptoms were observed in 10 (7.3%) patients, manifested as congestive heart failure. The global HIV infected population had increased left ventricular (LV) dimensions and wall thickness and decreased LV fractional shortening and ejection fraction when compared with the control population. Seven (5.1%) patients had dilated cardiomyopathy, 9 (6.5%) had global LV hypokinesis with or without LV dilatation and 17 (12.4%) had segmental LV wall motion abnormalities. Right ventricular dilatation was present in 23 (16.8%). Mitral or tricuspid regurgitation of a moderate or severe degree was found in 3 (2.2%) patients. No valvular vegetations were found. Fifty nine (43.1%) patients presented a pericardial effusion. An echocardiogram with at least one abnormality was observed in 104 (75.9%) and a severely abnormal echocardiogram in 34 (24.8%). The presence of cardiac symptoms and of abnormal and severely abnormal echocardiograms was more frequent in patients with the acquired immunodeficiency syndrome than in asymptomatic HIV infected patients. When comparing HIV-1 with HIV-2 populations the first showed increased LV systolic and diastolic diameters and LV mass index. There was no statistically significant difference between all risk behavior groups regarding the frequency of cardiac symptoms or the echocardiographic abnormalities found. HIV infected patients with CD4+ lymphocytes counts < or = 100/mm3 had more frequent abnormal and severely abnormal echocardiograms than those with CD4+ lymphocytes counts > 100/mm3. CONCLUSIONS: Although cardiac symptoms were rare in our population, subclinical cardiac involvement detected by echocardiography was frequent and could involve any cardiac layer. It was not influenced by the patients' risk behavior. The left ventricular trophic response observed in HIV-2 infection seemed less intense than that in HIV-1 infection. Cardiac involvement was more frequent in the more advanced stages of the infection and in patients with lower CD4+ lymphocyte counts.


Subject(s)
HIV Infections/complications , Heart Diseases/complications , Adult , Case-Control Studies , Female , Heart Diseases/epidemiology , Humans , Male , Prospective Studies
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