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1.
J Forensic Odontostomatol ; 38(3): 2-7, 2020 12 30.
Artigo em Inglês | MEDLINE | ID: mdl-33507161

RESUMO

The aim of this work is to study a sample of girls from 15 different countries using Third Molar Maturity Index (I3M ), to assess the probability that a girl has reached the legal age of 18 years. The studied sample consisted of 3228 Orthopantomograms of healthy female subjects from 15 different countries. The cut-off value of I3M = 0.08 was tested to discriminate adults (≥18 years) and minors (<18 years). X-ray images were processed by computer-aided drafting program ImageJ. The information on sensitivity and specificity of I3M coming from the 15 countries was pooled together using a bivariate Bayesian modeling approach. Specificity of the I3M test did not change when the country was considered, and its value remains greater than 85% for each studied country. This method is useful to estimate the age of the girls involved in suspected early marriage because of the high probability of correctly identifying a minor with similar results observed among tested populations.


Assuntos
Determinação da Idade pelos Dentes , Adolescente , Teorema de Bayes , Criança , Feminino , Humanos , Dente Serotino/diagnóstico por imagem , Radiografia Panorâmica , Sensibilidade e Especificidade
2.
Int J Legal Med ; 133(5): 1529-1536, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31197452

RESUMO

In this cross-sectional study, the accuracy of Cameriere's European formula was tested and a new specific model was developed for two samples of black and white South African children with known age and sex. For these purposes, 970 children of black South African ethnicity (girls 491, boys 479) and 974 with European ethnicity, living in South Africa (girls 493, boys 481), were retrospectively analyzed. The application of the European formula showed that there is a trend in the error estimates: the ages of the younger children are overestimated and those of the older children are underestimated, in both white and black children. A new model, based on the relationship between the apical width and the tooth length (maturity index) of the seven permanent mandibular teeth, was therefore constructed. The new developed equation for the South African population was able to explain 76% of total variance in white girls and 80% in white boys' subgroup. On the other side, the model explained 76% of total variance in black girls and 78% in the black boys' subgroup. The mean absolute error of the residuals (residuals = predicted age minus observed age) ranged from 0.718 to 0.769 years, with the interquartile range (IQRres) ranging from 1.19 to 1.31 years. Differently from the Cameriere's European formula, the plot did not tend to underestimate the chronological age significantly as the age increases. Cameriere's maturity index is reproducible in both samples of South African black and white children, for forensic purposes, and the Bayesian calibration approach is useful for a more accurate and precise estimation.


Assuntos
Determinação da Idade pelos Dentes/métodos , Dentição Permanente , Mandíbula/crescimento & desenvolvimento , Modelos Estatísticos , Ápice Dentário/crescimento & desenvolvimento , Adolescente , Teorema de Bayes , População Negra , Criança , Estudos Transversais , Feminino , Odontologia Legal , Humanos , Masculino , Mandíbula/diagnóstico por imagem , Radiografia Panorâmica , África do Sul/etnologia , Ápice Dentário/diagnóstico por imagem , População Branca
3.
J Forensic Odontostomatol ; 37(3): 27-33, 2019 12 30.
Artigo em Inglês | MEDLINE | ID: mdl-31894135

RESUMO

This retrospective study aims to test the third molar maturity index (I3M) cut-off value of 0.08 for 18 years old in Dominican Republic population. Orthopantomograms of 513 subjects (284 females and 229 males) were evaluated, intra- and inter-observer agreement, ICC (intra-class correlation coefficient) values were 0.88% (95 % CI 0.86% to 0.91%), and 0.93% (95% CI 0.90% to 0.96%), for the intra- and inter-observer reliability, respectively. Accuracy in females was 0.96 (95% CI: 0.93-0.97); the sensitivity was 0.99 (95% CI: 0.96-0.99) and specificity was 0.92 (95% CI: 0.86-0.95). In males, the accuracy was 0.96 (95% CI: 0.93-0.98); the sensitivity was 0.94 (95% CI: 0.88-0.97) and specificity was 0.99 (95% CI: 0.95-0.99). The PPV (Positive Predictive Value) was 0.93 for females and 0.99 for males. The results of this study show that I3M can be used for discriminating adults from minors in Dominican Republic subjects around the legal age of 18 years old.


Assuntos
Determinação da Idade pelos Dentes , Dente Serotino , Adolescente , Adulto , República Dominicana , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos
4.
Int J Legal Med ; 132(6): 1787-1794, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30232544

RESUMO

This work aims to assess the validity of the cut-off value (0.08) of the third molar maturity index (I3M) for discriminating minors from adults in Sardinian population. A sample of 336 digital panoramic radiographs of healthy Sardinian children and young minors (165 females and 171 males), aged between 15 and 23 years (mean age, 19.35 years in females and 18.80 years in males), was retrospectively evaluated. The left lower third molars were analysed by applying a specific cut-off value of 0.08 determined by Cameriere et al. in 2008. The reliability and reproducibility of the test was also studied: the intra-class correlation coefficients (ICC) were 0.91 (95% CI, 0.89-0.93) and 0.88 (95% CI, 0.86-0.90), for the intra- and inter-observer reliability, respectively. The I3M gradually decreased as the real age gradually increased in both sexes. According to the pooled results of the diagnostic test, the accuracy (ACC) was 0.86 (95% CI, 0.82-0.89); the proportion of correctly classified subjects (Se = sensitivity) was 0.82 (95% CI: 0.76-0.86); and specificity (Sp = specificity) was 0.95 (95% CI, 0.89-0.97). The positive predictive values (PPV) and the negative predictive values (NPVs) were 0.97 (95% CI, 0.94-0.99) and 0.70 (95% CI, 0.62-0.77). The LR+ and the LR- were 17.12 (95% CI, 7.27 to 40.36) and 0.19 (95% CI, 0.14 to 0.25). In spite of this, significant differences in the early mineralisation of the third molar were found between sexes as well as in the results of the diagnostic test, showing a better sensitivity in males than in females. The results showed that, although the third molar teeth are highly variable in development, and with differences between females and males as compare to other teeth, the I3M is a reliable method to distinguish between minors and adults even in such a genetic isolate population.


Assuntos
Determinação da Idade pelos Dentes/métodos , Dente Serotino/diagnóstico por imagem , Dente Serotino/crescimento & desenvolvimento , Adolescente , Feminino , Humanos , Itália , Masculino , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Ápice Dentário/diagnóstico por imagem , Ápice Dentário/crescimento & desenvolvimento , Adulto Jovem
5.
Int J Legal Med ; 132(5): 1457-1464, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29520486

RESUMO

AIMS: The evaluation of the cutoff value of I3M = 0.08 for discriminating black South African minors from adults, and its relationship with chronological age. MATERIAL AND METHODS: A sample of 833 panoramic radiographs of healthy black South African subjects (500 females and 333 males), in the age range of 14 to 24 years (mean age 17.67 years in females and 17.42 years in males), was retrospectively evaluated. RESULTS: ICC values were 99.10% (95% CI 97.70 to 99.70%) and 99.20% (95% CI 98.00 to 99.60%), for the intra- and inter-observer reliability, respectively. I3M decreased as the real age gradually increased in both sexes. According to the logistic regression model, the variable sex was not significant when the probability that an individual is 18 years or older was calculated. The I3M = 0.08 was valuable in discriminating between adults and minors. The overall accuracy (ACC = fraction of accurately classified subjects) is 0.90 (95% CI 0.87-0.91); the proportion of correctly classified subjects (Se = sensitivity) is 0.80 (95% CI 0.76-0.84), and specificity (Sp) is 0.95 (95% CI 0.93-0.97). The PPV (predictive positive value) is 0.96 (95% CI 0.95-0.97), and the negative predictive value is 0.76 (95% CI 0.72-0.80). CONCLUSION: The results show that I3M is a valuable method to distinguish subjects who are around legal adult age in South Africa.


Assuntos
Determinação da Idade pelos Dentes , População Negra , Odontologia Legal , Dente Serotino , Adolescente , Adulto , Feminino , Humanos , Masculino , Radiografia Panorâmica , Reprodutibilidade dos Testes , Estudos Retrospectivos , África do Sul , Adulto Jovem
6.
Oncogene ; 36(9): 1309-1314, 2017 03 02.
Artigo em Inglês | MEDLINE | ID: mdl-27568978

RESUMO

Exposure of murine and human tissues to ionizing radiation (IR) induces the expression of p16INK4a, a tumor suppressor gene and senescence/aging biomarker. Increased p16INK4a expression is often delayed several weeks post exposure to IR. In this context, it remains unclear if it occurs to suppress aberrant cellular growth of potentially transformed cells or is simply a result of IR-induced loss of tissue homeostasis. To address this question, we used a conditional p16INK4a null mouse model and determined the impact of p16INK4a inactivation long-term post exposure to IR. We found that, in vitro, bone marrow stromal cells exposed to IR enter DNA replication following p16INK4a inactivation. However, these cells did not resume growth; instead, they mostly underwent cell cycle arrest in G2. Similarly, delayed inactivation of p16INK4a in mice several weeks post exposure to IR resulted in increased BrdU incorporation and cancer incidence. In fact, we found that the onset of tumorigenesis was similar whether p16INK4a was inactivated before or after exposure to IR. Overall, our results suggest that IR-induced p16INK4a dependent growth arrest is reversible in mice and that sustained p16INK4a expression is necessary to protect against tumorigenesis.


Assuntos
Transformação Celular Neoplásica/patologia , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Neoplasias Experimentais/patologia , Radiação Ionizante , Animais , Transformação Celular Neoplásica/metabolismo , Transformação Celular Neoplásica/efeitos da radiação , Inibidor p16 de Quinase Dependente de Ciclina/genética , Feminino , Masculino , Camundongos , Camundongos Knockout , Neoplasias Experimentais/metabolismo , Neoplasias Experimentais/radioterapia
7.
J Dairy Sci ; 97(7): 4141-50, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24792788

RESUMO

Mastitis is the main disease entity affecting dairy farms in the Colombian High Plains of northern Antioquia, Colombia. However, no previous epidemiologic studies have determined the characteristics that increase the risk of infection in this region, where manual milking is still the prevailing system of milking. A 24-mo longitudinal study was designed to identify the predominant mastitis pathogens and important herd- and cow-level risk factors. Monthly visits were made to 37 commercial dairy farms to collect herd- and cow-level data and milk samples. Herd size varied from 6 to 136 cows (mean 37.0, median 29). Herd-level factors included type of milking system (manual or mechanical) and a range of management practices recommended by the National Mastitis Council (Madison, WI) to prevent mastitis. Individual cow-level risk factors included parity, stage of lactation, breed, udder hygiene, and lameness. A logistic regression analysis was used to investigate associations between herd- and cow-level risk factors with the presence of subclinical mastitis and infection caused by Streptococcus agalactiae at the quarter level. A quarter was considered to have subclinical mastitis if it had a positive California Mastitis Test and was subsequently confirmed to have a somatic cell count of ≥200,000 cells/mL. Any cow with one or more quarters with subclinical mastitis was considered to have subclinical mastitis at the cow level. Using 17,622 cow observations, the mean prevalence of subclinical mastitis at the cow level was 37.2% (95% confidence interval: 31.2, 43.3) for the first month and did not substantially change throughout the study. The predominant microorganisms isolated from quarters meeting the subclinical mastitis definition were contagious pathogens, including Strep. agalactiae (34.4%), Corynebacterium spp. (13.2%), and Staphylococcus aureus (8.0%). Significant variables associated with subclinical mastitis risk at the quarter level included being a purebred Holstein cow, higher parity, and increased months in milk. Variables that were protective for mastitis risk included being a crossbreed cow and adequate premilking udder hygiene. Significant variables associated with Strep. agalactiae infection were higher parity, increased months in milk, and manual milking. Variables that were protective were postmilking teat dipping and adequate cleaning of the udder. The results highlight the importance of hygiene practices in contagious mastitis control in manually milked herds.


Assuntos
Infecções Assintomáticas/epidemiologia , Bactérias/isolamento & purificação , Infecções Bacterianas/veterinária , Mastite Bovina/epidemiologia , Animais , Bactérias/classificação , Infecções Bacterianas/epidemiologia , Infecções Bacterianas/microbiologia , Bovinos , Colômbia/epidemiologia , Indústria de Laticínios , Feminino , Estudos Longitudinais , Mastite Bovina/microbiologia , Prevalência , Fatores de Risco
8.
J Agric Food Chem ; 60(28): 7050-63, 2012 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-22703609

RESUMO

Climate changes are inducing increased sugar levels of must, which produces negative effects on wine quality, as unbalanced wines with high degrees of alcohol. So, effective strategies to control the increase of sugar levels in must have been studied. One of them is the use of a membrane process, and this is applied in this work. The sugar level of white must from Verdejo (Vitis vinifera variety) was reduced using diverse membrane processes, and the effect of this fact on the volatile composition of the corresponding wines is studied. The study was carried out during three consecutive vintages. An important impact of the reduction of sugar levels of must on the volatile composition of the obtained wines was detected, which was due to some retention phenomena of aromatic and precursor compounds. To minimize the volatile composition modifications, an appropriate selection of the nanofiltration membrane must be done.


Assuntos
Carboidratos/análise , Compostos Orgânicos Voláteis/análise , Vinho/análise , Aminoácidos/análise , Filtração/métodos , Manipulação de Alimentos/métodos , Frutas/química , Vitis
9.
Mol Psychiatry ; 17(7): 741-7, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21606926

RESUMO

In previous studies of a genetic isolate, we identified significant linkage of attention deficit hyperactivity disorder (ADHD) to 4q, 5q, 8q, 11q and 17p. The existence of unique large size families linked to multiple regions, and the fact that these families came from an isolated population, we hypothesized that two-locus interaction contributions to ADHD were plausible. Several analytical models converged to show significant interaction between 4q and 11q (P<1 × 10(-8)) and 11q and 17p (P<1 × 10(-6)). As we have identified that common variants of the LPHN3 gene were responsible for the 4q linkage signal, we focused on 4q-11q interaction to determine that single-nucleotide polymorphisms (SNPs) harbored in the LPHN3 gene interact with SNPs spanning the 11q region that contains DRD2 and NCAM1 genes, to double the risk of developing ADHD. This interaction not only explains genetic effects much better than taking each of these loci effects by separated but also differences in brain metabolism as depicted by proton magnetic resonance spectroscopy data and pharmacogenetic response to stimulant medication. These findings not only add information about how high order genetic interactions might be implicated in conferring susceptibility to develop ADHD but also show that future studies of the effects of genetic interactions on ADHD clinical information will help to shape predictive models of individual outcome.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Cromossomos Humanos Par 11/genética , Ligação Genética/genética , Predisposição Genética para Doença/genética , Receptores Acoplados a Proteínas G/genética , Receptores de Peptídeos/genética , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Encéfalo/metabolismo , Estudos de Casos e Controles , Colina/metabolismo , Glutamina/metabolismo , Humanos , Inositol/metabolismo , Espectroscopia de Ressonância Magnética/métodos , Metilfenidato/uso terapêutico , Polimorfismo de Nucleotídeo Único/genética , Prótons
10.
Langmuir ; 27(18): 11636-49, 2011 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-21806047

RESUMO

Silicon wafers have been silylated with VTMS (vinyltrimethoxysilane) and hydrolyzed. Subsequently, PVP (polyvinyl pyrrolidone) was grafted onto the silylated surface by two different techniques: the grafting-through (GT) and the grafting-onto techniques (GO). The measurement of contact angles along with the topography analysis by atomic force microscopy (AFM) has allowed monitoring the different stages of the process and the temporal evolution of polymer grafting. The results have demonstrated the feasibility of both methods of grafting but have shown that the GT method gives a higher density of polymer-grafted chains. The AFM technique in adequate liquid environments has been proven to permit the surface density of chains to be distinguished by both methods and to estimate the length of the resulting PVP chains.

11.
Rev Sci Tech ; 28(3): 1077-84, 2009 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-20462166

RESUMO

The Taenia solium larva causes cysticercosis in pigs, as well as economic losses for farmers and taeniosis in humans, constituting a public health problem. Infested pigs must therefore be identified before they enter the food chain. To this end, a dot blot assay was developed for the immunodiagnosis of porcine cysticercosis. A study was made of 44 pigs from different areas of Colombia that had all tested positive to cysticercosis, both by necropsy and the Western blot technique. Another group was formed comprising 44 pigs that had all tested negative to Western blot and necropsy. After analysing these 88 samples to validate the diagnostic assay, the result was a sensitivity of 86.4% and a specificity of 93.2%. The dot blot assay proved useful in diagnosing porcine cysticercosis. As the assay is easy to use in laboratories in endemic areas, as well as under field conditions, it is also appropriate for epidemiological studies.


Assuntos
Anticorpos Anti-Helmínticos/análise , Cisticercose/veterinária , Cysticercus/imunologia , Immunoblotting/veterinária , Doenças dos Suínos/diagnóstico , Animais , Cisticercose/diagnóstico , Cisticercose/epidemiologia , Prevalência , Sensibilidade e Especificidade , Suínos
12.
J Hazard Mater ; 153(1-2): 628-34, 2008 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-17942223

RESUMO

A new copper vanadate precursor with the formula NH(4)[Cu(2.5)V(2)O(7)(OH)(2)] . H(2)O was synthesized and deposited on two different supports, ZSM-5 and amorphous SiO(2), by a hydrothermal method or by mechanical mixture. The catalytic behaviour was evaluated in the total oxidation of toluene and the characterization was performed by H(2)-temperature-programmed reduction (H(2)-TPR), thermogravimetric analysis, elemental analysis, UV-vis diffuse reflectance spectroscopy and X-ray diffraction. It was found that the copper vanadate phase comprises two mixed oxides, one of them crystalline, the Ziesite phase, and the other one amorphous. The supported catalysts presented a content of copper vanadate phase of about 9-11 wt.%. The copper vanadate deposited on ZSM-5 by the hydrothermal method evidences the best performance in the oxidation of toluene. This behaviour can be associated with the smaller size and higher dispersion of the particles on the support, which was confirmed by their better reducibility and higher band gap energy value compared with the other series of studied catalysts.


Assuntos
Poluentes Atmosféricos/química , Cobre/química , Solventes/química , Tolueno/química , Vanadatos/química , Varredura Diferencial de Calorimetria , Catálise , Oxirredução , Dióxido de Silício/química , Análise Espectral/métodos , Termogravimetria , Difração de Raios X , Zeolitas/química
13.
Dermatol Online J ; 13(2): 13, 2007 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-17498432

RESUMO

Cutaneous myiasis is easy to diagnose and treat if clinicians are aware of the condition. Because of widespread travel, physicians may encounter this infestation in patients living in geographical regions where the condition is rare. A child is presented with cutaneous myiasis that presented as furuncle-like nodules on the scalp. The larvae were identified as a stage of the bluebottle-like fly, Dermatobia hominis.


Assuntos
Miíase/diagnóstico , Miíase/terapia , Viagem , Animais , Pré-Escolar , Drenagem/métodos , Feminino , Seguimentos , Humanos , Curativos Oclusivos , Couro Cabeludo , Índice de Gravidade de Doença , Resultado do Tratamento
14.
J Ethnopharmacol ; 107(3): 324-41, 2006 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-16949228

RESUMO

Argentina is a country with both rich floral biodiversity and cultural diversity. Traditional herbal medicines are important in the health care of most people, and rely heavily on the use of indigenous plants. An ethnobotanical survey of the "Sierra de Comechingones" made over a 26-year period (1979-2005), indicated that 65 families and 149 different genuses were used in traditional medicines. The use of these medicines was observed to be widespread and prevalent over orthodox medicine. Medicinal native plants from this mountain range make up 31% of the total Argentina medicinal native flora. In addition, there are 15 endemic species that grow only in the region. The botanical name, popular uses, parts utilized, as well as the distribution of these medicinal plants from the "Sierra de Comechingones", Argentina, were summarized. Previous reports on phytochemical and biological activities in relation to cancer, antimicrobials and pesticides were also included.


Assuntos
Medicina Tradicional , Extratos Vegetais/farmacologia , Plantas Medicinais , Animais , Anti-Infecciosos/farmacologia , Antifúngicos/farmacologia , Antineoplásicos Fitogênicos/farmacologia , Argentina , Etnobotânica , Humanos , Inseticidas/farmacologia
15.
Phys Med Biol ; 51(6): 1393-403, 2006 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-16510951

RESUMO

MR imaging based treatment planning for radiotherapy of prostate cancer is limited due to MR imaging system related geometrical distortions, especially for patients with large body sizes. On our 0.23 T open scanner equipped with the gradient distortion correction (GDC) software, the residual image distortions after the GDC were <5 mm within the central 36 cm x 36 cm area for a standard 48 cm field of view (FOV). In order to use MR imaging alone for treatment planning the effect of residual MR distortions on external patient contour determination, especially for the peripheral regions outside the 36 cm x 36 cm area, must be investigated and corrected. In this work, we performed phantom measurements to quantify MR system related residual geometric distortions after the GDC and the effective FOV. Our results show that for patients with larger lateral dimensions (>36 cm), the differences in patient external contours between distortion-free CT images and GDC-corrected MR images were 1-2 cm because of the combination of greater gradient distortion and loss of field homogeneity away from the isocentre and the uncertainties in patient setup during CT and MRI scans. The measured distortion maps were used to perform point-by-point corrections for patients with large dimensions inside the effective FOV. Using the point-by-point method, the geometrical distortion after the GDC were reduced to <3 mm for external contour determination and the effective FOV was expanded from 36 cm to 42 cm.


Assuntos
Imageamento por Ressonância Magnética/instrumentação , Imageamento por Ressonância Magnética/métodos , Neoplasias da Próstata/radioterapia , Planejamento da Radioterapia Assistida por Computador/métodos , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Modelos Estatísticos , Modelos Teóricos , Imagens de Fantasmas , Dosagem Radioterapêutica , Radioterapia Conformacional , Software , Tomografia Computadorizada por Raios X
16.
Rev Neurol ; 41(2): 95-8, 2005.
Artigo em Espanhol | MEDLINE | ID: mdl-16028188

RESUMO

INTRODUCTION: The benign chorea hereditary (BCH, OMIM 118700) represents a childhood movement disorder characterized by its early onset, a slow progressive course (mostly stable) and the absence of mental compromise, which contrast with the clinical features exhibited by the Huntington Disease. CASE REPORTS: Here we describe a multigenerational, extended and inbreed family belonging to a genetic isolate, the Paisa community from Antioquia Colombia, with seven children exhibiting clinical features of BCH. Even though some patients with BCH are heterozygous for a dominant mutation in the thyroid transcription factor-1 gene (TITF1), the pattern in this family resembles a recessive mode of inheritance, which suggests that genetic heterogeneity may be playing a role. CONCLUSION: Currently, linkage analysis is underway to determine if TITF1 is the gene responsible for this movement disorder in this family.


Assuntos
Coreia/genética , Criança , Pré-Escolar , Coreia/diagnóstico , Colômbia , Consanguinidade , Diagnóstico Diferencial , Humanos , Doença de Huntington/diagnóstico , Masculino , Linhagem
17.
Rev Neurol ; 39(11): 1021-5, 2004.
Artigo em Espanhol | MEDLINE | ID: mdl-15597263

RESUMO

INTRODUCTION: Linkage analyses provide strong evidence of how genetic factors influence epilepsy, due to the fact that they involve the determination of the cosegregation of specific marker alleles with epilepsy within families. AIMS: Our aim was to determine whether there was some kind of propensity to develop generalised idiopathic epilepsy (GIE) in the 15q22.1-q25.1 region in an extended multigenerational family from the Paisa de Antioquia community, which is a genetic isolate located in Colombia that segregates for GIE and has a strong capacity to detect linkage. PATIENTS AND METHODS: We selected a family containing a number of individuals suffering from epilepsy who visited the Antioquia Neurological Institute. Each affected individual had to have been diagnosed by a neurologist as suffering from non-myoclonic idiopathic epilepsy or from partial idiopathic epilepsy. All patients suspected of suffering from idiopathic epilepsy were submitted to video monitoring in order to characterise seizures electroencephalographically. RESULTS: Of the 106 individuals in this family who were included in the family tree, 76 were genotyped; 15 of them suffered from generalised clonic tonic seizures and six were considered as being possibly affected. Lod score results were significantly negative for all the markers in relation to each of the models under consideration. CONCLUSIONS: The possibility of the genes that code for the a-3, a-5 and b-4 subunits of the neuronal nicotinic acetylcholine receptor (CHRNA3, CHRNA5 and CHRNB4) situated in the 15q region being responsible for the familial aggregation of GIE in this family, as has been suggested in previous studies in other families, was ruled out.


Assuntos
Cromossomos Humanos Par 15 , Epilepsia/genética , Ligação Genética , Predisposição Genética para Doença , Colômbia , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Humanos , Escore Lod , Linhagem , Receptores Nicotínicos/genética
18.
Rev Neurol ; 38(10): 916-20, 2004.
Artigo em Espanhol | MEDLINE | ID: mdl-15175971

RESUMO

INTRODUCTION: Linkage analyses enable us to identify the loci that bestow susceptibility to certain diseases which are assumed to have a genetic aetiology by determining the cosegregation of alleles of specific markers within families. AIMS: The aim of this study was to determine whether there is generalised idiopathic epilepsy (GIE) susceptibility in the 8q22.1 -q24.23, 16p13.3 and 21q22.3 regions within an extended multigenerational family belonging to the Paisa community in Antioquia, a genetic isolate located in Colombia segregating for GIE with a strong capacity for detecting linkage. PATIENTS AND METHODS: A family with a number of individuals affected by idiopathic epilepsy who visited the Instituto Neurológico de Antioquia was selected for study. An affected individual was required to have been diagnosed by a neurologist as suffering from non-myoclonic idiopathic epilepsy or partial idiopathic epilepsy. All patients suspected of suffering from idiopathic epilepsy were submitted to video monitoring in order to characterise the seizures electroencephalographically. RESULTS: Of the 106 individuals in this family that were included in the family tree, 76 were genotyped, 15 of whom were affected by generalised clonic tonic seizures and six were considered to be possibly affected. Results of the lod score were significantly negative for all the markers in relation to each model that was considered. CONCLUSIONS: The possibility of the genes located in the 8q22.1 -q24.23, 16p13.3 and 21q22.3 regions being responsible for the familial aggregation of GIE in this family was ruled out, which is in accordance with claims made in previous studies conducted on other families.


Assuntos
Epilepsia/genética , Ligação Genética , Adolescente , Adulto , Criança , Pré-Escolar , Cromossomos Humanos Par 16 , Cromossomos Humanos Par 21 , Cromossomos Humanos Par 8 , Colômbia , Eletroencefalografia , Epilepsia/classificação , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Família , Feminino , Marcadores Genéticos , Genótipo , Humanos , Lactente , Escore Lod , Masculino , Linhagem
19.
Tissue Antigens ; 64(1): 18-24, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15191519

RESUMO

Association between the major histocompatibility complex (MHC) and the susceptibility/resistance to acquire Chagas' disease has been largely demonstrated. To study the role of candidate genes in this susceptibility/resistance to Chagas, we designed a population-genetic-based case-control approach (chagasic n = 104 and controls n = 60) and tested the presence of genotype and linkage disequilibrium on microsatellite loci establishing specific landmarks for the MHC, interleukin (IL)-2, IL-2Rbeta chain, IL-4, IL-10, and natural resistance-associated mactophage protein 1 (NRAMP1). After demonstrating no genetic stratification among cases and controls (F(st) were not different from 0), we found significant allelic differences among chagasic patients and controls at microsatellite locus D6S291 (MHC) and at the microsatellite pointing out the IL-10. At the MHC, we found significant differences between patients and controls in Hardy-Weinberg equilibrium-expected genotype proportions. Additionally, MHC II-locus-inferred haplotypes in chagasic patients exhibited strong significant departures from the expected proportions predicted by the second Mendelian law. The linkage disequilibrium pattern at MHC involves a region of approximately 10 cM. These results replicate previous analyses and suggest that presence of epistasis between MHC with humoral systems, such as IL-10, could be underlying the susceptibility/resistance to Chagas' disease.


Assuntos
Doença de Chagas/genética , Doença de Chagas/imunologia , Epistasia Genética , Interleucina-10/genética , Desequilíbrio de Ligação , Complexo Principal de Histocompatibilidade , Alelos , Estudos de Casos e Controles , Proteínas de Transporte de Cátions/genética , Método Duplo-Cego , Frequência do Gene , Haplótipos , Humanos , Interleucina-2/genética , Interleucina-4/genética , Repetições de Microssatélites , Receptores de Interleucina-2/genética
20.
Phys Rev E Stat Nonlin Soft Matter Phys ; 68(2 Pt 1): 021302, 2003 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-14524964

RESUMO

We present the results of a numerical and an experimental investigation of the probability distribution of normal contact forces in static packs of particles with two different hardnesses. Force distributions are computed and compared with existing models and experimental data. It is found that the probability distribution function of normal contact forces P(f) is well described by a semiempirical model derived from a fractional diffusion equation. This model reproduces most of the features common to force distributions observed in experimental and numerical studies including the finite value for P(f) as the forces tend to zero. The results indicate that the fractional model fits well both the numerical and experimental data over a wide range of particle deformations in contrast to the existing models. These results provide an insight into the physics of granular media and complement previous findings.

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