Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci.

BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) comorbid with oppositional defiant disorder (ODD) or conduct disorder (CD) and substance abuse/dependence seems to represent a specific subset within the phenotypic ADHD spectrum. METHODS: We applied complex segregation and linkage analyses in a set of multigenerational families densely segregating ADHD comorbid with ODD, CD, alcohol abuse/dependence, and nicotine dependence. RESULTS: Our data suggest that ADHD cosegregates with disruptive behaviors as a unique, phenotypically variable trait as evidenced by highly significant pair-wise linkages among: ADHD and ODD (logarithm of odds [LOD]=14.19), ADHD and CD (LOD=5.34), ODD and CD (LOD=6.68), and CD and alcohol abuse/dependence (LOD=3.98). In addition to previously reported ADHD susceptibility loci, we found evidence of linkage for comorbid ADHD phenotypes to loci at 8q24, 2p21-22.3, 5p13.1-p13.3, 12p11.23-13.3, 8q15, and 14q21.1-22.2. These results were replicated with an affected status phenotype derived from latent class clusters. CONCLUSIONS: Patterns of cosegregation of ADHD with comorbidities can inform our understanding of the inheritance patterns not only of ADHD but also of disruptive behavioral disorders and alcohol abuse/dependence. Refining the comorbid ADHD phenotype by determining the cosegregation profile of specific comorbidities might be a powerful tool for defining significant regions of linkage.

[Evaluation of the ELISA method for diagnosis of human cysticercosis in an endemic region]. / Evaluación del método ELISA de punto para el diagnóstico de la cisticercosis humana y para estimar valores de prevalencia en una región endémica en Colombia.

INTRODUCTION: Cysticercosis is a worldwide public health problem. Currently it is diagnosed by detection of specific antibodies or by imaging techniques. OBJECTIVE: To evaluate an alternative diagnostic tool, a simple antibody detection assay, called Dot ELISA, for immunological diagnosis of patients with neurocysticercosis as well as for endemic population screening. MATERIALS AND METHODS: The test was applied to cysticercosis patients, as well as to healthy controls and individuals with other parasitic infections. A total of 45 serum, 41 plasma and 23 cerebrospinal fluid samples were obtained from patients meeting clinical, surgical, imaging and laboratory criteria for cysticercosis. Samples were processed by enzyme-linked immune-electro-transfer blot assay and by Dot ELISA. Controls included 37 serum, 64 plasma and 17 cerebrospinal fluid samples from healthy individuals without epidemiological history for taeniosis-cysticercosis. Similarly, 43 plasma samples from patients with parasitic infections different from cysticercosis and 663 samples from population survey for cysticercosis were also evaluated. RESULTS: A total of 933 samples were analyzed. In samples from cysticercosis patients and healthy control individuals, the Dot ELISA test showed an overall sensitivity of 80.7% (CI 95% = 80.2%-81.2%) and a specificity of 92.4% (CI 95% = 91.9%-92.8%). The Dot ELISA performed in serum had a sensitivity of 91.1%, in plasma 85.4%, and in cerebrospinal fluid 52.2%. Similarly, the same test performed in serum, plasma and cerebrospinal fluid, had a specificity of 100%, 85.9% and 100% respectively. The Dot ELISA was applied as a screening test for the diagnosis of cysticercosis in an endemic population in which 1.8% (12/663) of individuals had T. solium antibodies detected by Enzyme-linked immune-electro-transfer blot assay and showed a sensitivity of 58.3% (CI 95% = 54.0-62.7) and a specificity of 100% (CI 95% = 99.9-100.0) with a positive predictive value of 100% and a negative predictive value of 99.2%. All 43 samples from patients with parasitic infections different from cysticercosis were negative for both tests. CONCLUSIONS: These results indicated that Dot ELISA is a promising tool for the diagnosis of cysticercosis as a screening test, as well as for field epidemiological studies.

Concentraciones séricas de Beta-hidroxibutirato y su asociación con enfermedades posparto en bovinos de leche / Serum Beta-hydroxybutyrate concentrations and its association with postpartum diseases in dairy cows

RESUMEN Objetivo. Determinar la prevalencia de cetosis bovina según las concentraciones séricas (mmol/Lt) de beta-hidroxibutirato (βHB) y estimar su asociación con enfermedades del posparto temprano en vacas lecheras. Materiales y métodos. Se llevó a cabo un estudio epidemiológico de corte transversal con información individual de los niveles sanguíneos de βHB y presentación clínica de enfermedades puerperales de n=1149 animales; además se evaluó la eficiencia de la prueba como predictora de enfermedad posparto. Posteriormente, se realizó X 2 y un modelo de regresión logística final para explorar los factores asociados con hipercetonemia. La relación entre βHB sanguíneo, la presentación de cetosis y la ocurrencia de enfermedades puerperales se calculó analizando Característica Operativa del Receptor (Receiver Operating Characteristic -ROC). Resultados. Según los niveles de -3HB, la prevalencia de cetosis fue de 7.9%, cetosis clínica 0.6% y cetosis subclínica 7.3%. La prueba fue predictora de enfermedad puerperal (LR+ del 13.6). La condición corporal ≥3.5, número de partos igual a 2 y ≥3, la presentación de retención de placenta, fiebre de leche y la enfermedad posparto, son factores de riesgo de cetosis. El análisis de la curva ROC mostró que la medición de βHB (≥1.2 mmol/Lt) en sangre sirve para diagnosticar cetosis (p<0.0001). Conclusiones. La medición de niveles sanguíneos de βB permitió determinar que la presentación de cetosis es baja, es una alerta no solamente para esta enfermedad sino para las enfermedades del posparto temprano. Los resultados de este estudio confirman lo reportado en estudios previos sobre los factores de riesgo de cetosis.

ABSTRACT Objective. Determine the prevalence of bovine ketosis based on serum concentrations (mmol/Lt) of beta-hydroxybutyrate (βHB) and estimate its association with early postpartum diseases in dairy cows. Materials and methods. An epidemiological cross-sectional study was carried out with individual information on blood levels of βHB and clinical presentation of puerperal diseases in 1149 animals; In addition, the efficiency of the test was evaluated as a predictor of postpartum disease. Subsequently, univariate analysis and a final logistic regression model were performed to explore the factors associated with hyperketonemia. The association between blood βHB, the presentation of ketosis and the occurrence of puerperal diseases was calculated by analyzing the Receiver Operating Characteristic -ROC. Results. According to βHB levels, the prevalence of ketosis was 7.9%, clinical ketosis 0.6% and subclinical ketosis 7.3%. The test was a predictor of puerperal disease (LR+ of 13.6). Body condition score ≥3.5, number of births 2 and ≥3, presentation of retained fetal membranes, milk fever and postpartum disease, are risk factors for ketosis. The analysis of the ROC curve showed that the measurement of βHB (≥1.2 mmol/Lt) in blood serves to diagnose ketosis (p<0.0001). Conclusions. The measurement of βHB blood levels allowed to determine that ketosis presentation is low, it is an alert not only for this disease but for early postpartum diseases. The results of this study confirm risk factors observed in previous studies.

Tasa de incidencia de mastitis clínica y susceptibilidad antibiótica de patógenos productores de mastitis en ganado lechero del norte de Antioquia, Colombia* / Incidence rate of clinical mastitis and antibiotic susceptibility of mastitis-producing pathogens in dairy cattle from Northern Antioquia, Colombia / Taxa de incidência de mastite clínica e susceptibilidade antibiótica de patógenos produtores de mastite em gado leiteiro do norte de Antioquia, Colômbia

Resumen Introducción: la mastitis se define como la inflamación de la glándula mamaria causante de grandes pérdidas económicas en hatos lecheros, lo que amerita su investigación. Objetivo: determinar la tasa de incidencia de mastitis clínica TIMC, la etiología asociada y la sensibilidad antibiótica de patógenos aislados de casos de mastitis en ganado lechero. Materiales y métodos: se siguieron 37 hatos por 12 meses para el diagnóstico de mastitis cílínica (MC). A las muestras de leche de los casos de MC se les realizó cultivo bacteriológico y a estas, así como a los aislamientos de casos de mastitis subclínica de un estudio previo, se les efectuó prueba de susceptibilidad antibiótica. Para el análisis de la información se utilizó estadística descriptiva estándar. Resultados: TIMC fue de 13,8 casos por 100 vacas-año a riesgo. Se aislaron 188 patógenos totales de casos de MC, entre los cuales el Streptococcus agalactiae, el Streptococcus pyogenes y el Corynebacterium spp. fueron los más frecuentes, con 29,8; 11,7 y 5,9 %, respectivamente. Se halló una alta sensibilidad de las bacterias contagiosas para los antibióticos cloxacilina y cefoperazone. Conclusiones: en el presente estudio se encontró una TIMC de 13,8 casos por 100 vacas-año a riesgo. Los patógenos más prevalentes identificados en casos de MC fueron contagiosos. Se encontró una alta sensibilidad de las bacterias contagiosas para la mayoría de los antibióticos β-lactámicos.

Abstract Introduction: Mastitis is defined as the inflammation of the mammary gland causing great economic losses in dairy herds, which merits investigation. Objective: To determine the incidence rate of clinical mastitis IRCM, associated etiology, and antibiotic sensitivity of pathogens isolated from cases of mastitis in dairy cattle. Materials and methods: 37 herds were followed during 12 months for clinical mastitis (CM) diagnosis. Milk samples from CM cases were bacteriologically cultured, which underwent, along with isolates from subclinical mastitis cases from a previous study, antibiotic susceptibility testing. For data analysis, standard descriptive statistics were used. Results: The IRCM was 13.8 cases per 100 cows-year at risk. A total of 188 pathogens of CM cases were isolated, among which Streptococcus agalactiae, Streptococcus pyogenes, and Corynebacterium spp. were the most frequent, with 29.8%, 11.7%, and 5.9%, respectively. A high susceptibility of contagious bacteria was found for cloxacillin and cefoperazone. Conclusions: The present study found an IRCM of 13.8 cases per 100 cows-year at risk. The most prevalent pathogens identified in cases of CM were contagious. A high sensitivity of contagious bacteria was found for most β-lactam antibiotics.

Resumo Introdução: a mastite se define como a inflamação da glândula mamária causante de grandes perdas econômicas em rebanhos de gado leiteiro, o que justifica a sua pesquisa. Objetivo: determinar a taxa de incidências de mastite clínica TIMC, a etiologia associada e a sensibilidade antibiótica de patógenos isolados de casos de mastite em gado leiteiro. Materiais e métodos: seguiram-se 37 rebanhos bovinos durante 12 meses para o diagnóstico de mastitis clínica (MC). Com as amostras de leite dos casos de MC realizou-se cultivo bacteriológico e a estas, assim como aos isolamentos de casos de mastite subclínica de um estudo prévio, efetuou-se prova de susceptibilidade antibiótica. Para a análise da informação se utilizou estatística descritiva padrão. Resultados: a TIMC foi de 13,8 casos por 100 vacas-ano a risco. Foram isolados 188 patógenos totais de casos de MC, entre os quais o Streptococcus agalactiae, o Streptococcus pyogenes e o Corynebacterium spp. foram os mais frequentes, com 29,8; 11,7 e 5,9 %, respectivamente. Constatou-se uma alta sensibilidade das bactérias contagiosas para os antibióticos cloxacilina e cefoperazone. Conclusões: neste estudo evidenciou-se uma TIMC de 13,8 casos por 100 vacas-ano a risco. Os patógenos mais prevalentes identificados em casos de MC foram contagiosos. Encontrou-se uma alta sensibilidade das bactérias contagiosas para a maioria dos antibióticos β-lactâmicos.

Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate.

The neural nicotinic acetylcholine receptor α4 subunit (CHRNA4), at 20q13.2-q13.3, is an important candidate gene for conferring susceptibility to attention deficit/hyperactivity disorder (ADHD). Several studies have already looked for association/linkage between ADHD and CHRNA4 in different populations. We used the Pedigree Disequilibrium Test to search for evidence of association between ADHD and six SNP marker loci in families from the isolated Paisa population. We found that the T allele of SNP rs6090384 exhibits a deficit of transmission in unaffected individuals (OR = 5.43, IC 1.54-19.13) (global P value = 0.014). We also found significant association and linkage to extended haplotypes rs2273502-rs6090384 (combination of variants C-T, respectively) (P = 0.02) and rs6090384-rs6090387 (P = 0.04) (combination of variants T-G, respectively). SNP rs6090384, variant T, has also been reported to be associated with inattention in a previous study. This makes ours the ninth study to examine the association of CHRNA4 with ADHD and the seventh one to find evidence for association in a population with a different ethnicity.

Environmental influences that affect attention deficit/hyperactivity disorder: study of a genetic isolate.

Three independent complex segregation analyses found that the cause of Attention Deficit/Hyperactivity Disorder (ADHD) was the presence of major genes interacting with environmental influences. In order to identify potential environmental risk factors for ADHD in the Paisa community--a very well described, genetically isolated group--we randomly selected a sample of 486 children between 6 and 11 years of age. This group included 200 children with ADHD (149 males and 51 females) and 286 healthy controls (135 males and 151 females). The ADHD DSM-IV diagnosis was obtained using the DICA and BASC evaluation instruments, and the children's mothers or grandmothers filled out a questionnaire on each child's exposure to prenatal, neonatal, and early childhood risk factors. The data were analyzed using cross tabulation and stepwise logistic multiple-regression analyses. Cross tabulation associated ADHD with a variety of factors, including miscarriage symptoms, premature delivery symptoms, maternal respiratory viral infection, moderate to severe physical illness in the mother during gestation, prenatal cigarette and alcohol exposure, neonatal seizures, asphyxia or anoxia, severe neonatal illness, mild speech retardation, moderate brain injury, and febrile seizures (odds ratio >or= 2, P < 0.05). Stepwise logistic multiple-regression analysis also uncovered a block of variables, including male gender, maternal illnesses, prenatal alcohol exposure, mild speech retardation, febrile seizures, and moderate brain injury (odds ratio >or= 2.0, P < 0.05). Future studies on the risk of developing ADHD must include these environmental factors as covariates.

Factores asociados a mastitis en vacas de la microcuenca lechera del altiplano norte de Antioquia, Colombia / Factors associated to mastitis in cows from the dairy production basin in the northern highlands of Antioquia, Colombia / Fatores associados à mastite em vacas da microbacia leiteira do altiplano norte da Antioquia, Colômbia

Se efectuó un estudio de corte sobre la prevalencia de mastitis bovina en una muestra representativa de las granjas lecheras del altiplano norte de Antioquia, Colombia. Se evaluaron los resultados del California Mastitis Test (CMT), Recuento de Células Somáticas (RCS) y cultivo bacteriológico de leche, y se analizaron los factores de riesgo asociados a mastitis bovina. El análisis estadístico de la información se efectuó por medio de estadística descriptiva, análisis de razón de prevalencias y regresión logística multinivel. Con la prueba de CMT se detectó un 20% de cuartos afectados con mastitis, la prevalencia de mastitis subclínica por vaca fue del 39,5% y la de mastitis clínica fue del 1,7%. Se efectuaron 648 cultivos de muestras de leche, de las cuales 23,9% fueron negativas, 34% positivas a Streptococcus agalactiae y 10,2% a Estafilococo coagulasa negativo. El análisis de regresión reveló que las vacas que tuvieron más de seis meses de lactancia presentaron una Odds Ratio (OR) de 2,65 en comparación con las de un mes de lactancia (p < 0,05). Se halló un OR de 1,24 para la asociación de la edad y la mastitis (p < 0,05). Para el lavado de manos se encontró un OR de 0,36 en comparación con no hacerlo (p < 0,05). En conclusión, se halló una alta frecuencia de mastitis por vaca. El microorganismo más hallado fue el Streptococcus agalactiae. El trauma podría ser una causa importante de mastitis dado que no se observó crecimiento bacteriano en 23,9% de los cultivos de muestras de leche de cuartos con mastitis...

A study was conducted on the prevalence of bovine mastitis in a representative sample from dairy farms in the northern highlands of Antioquia, Colombia. The results of California Mastitis Test (CMT) were evaluated, as well as the Somatic Cell Count (SCC) and the bacteriological culture of milk. The risk factors associated with bovine mastitis were also analyzed, and the statistical analysis of the information was made through descriptive statistics, prevalence ratio analysis and multilevel logistic regression. The CMT test detected that 20% of the cow were affected with mastitis, the prevalence of subclinical mastitis per cow was of 39.5%, and of clinical mastitis was 1.7%. Six hundred and forty eight (648) cultures were made of milk samples, 23.9% of which came out negative, 34% positive with Streptococcus agalactiae, and 10.2% with coagulase-negative staphylococci. The regression analysis revealed that cows that had more than six months of lactation showed an Odds Ratio (OR) of 2.65 compared to cows that had one month of lactation (p < 0.05). An OR of 1.24 was found in the association between age and mastitis (p<0.05). Finally, an OR of 0.36 was found associated to washing hands compared to not doing it (p<0.05). In conclusion, a high prevalence of mastitis per cow was found. The most frequently found micro-organism was Streptococcus agalactiae. Trauma could be a major cause of mastitis since no bacterial growth was observed in 23.9% of the milk sample cultures from cow with mastitis...

Realizou-se um estudo de corte sobre a prevalência da mastite bovina em uma mostra representativa das fazendas leiteiras do altiplano norte da Antioquia, Colômbia. Foram avaliados os resultados do exame CMT (California Mastitis Test), Recontagem das Células Somáticas (RCS) e cultivo bacteriológico do leite, e analisaram-se os fatores de risco associados à mastite bovina. A análise estatística da informação foi efetuada por meio da estatística descritiva, análise de razão de prevalências e regressão logística multinível. Com o exame CMT detectou-se 20% de quartos afetados com mastite, a prevalência de mastite subclínica por vaca foi de 39,5% e a de mastite clínica foi de 1,7%. Efetuaram-se 648 cultivos de mostras de leite, das quais 23,9% foram negativas, 34% positivas a Streptococcus agalactiae e 10,2% a Estafilococo coagulase negativo. A análise de regressão revelou que as vacas que tiveram mais de seis meses lactância apresentaram uma Odds Ratio (OR) de 2,65 em comparação com as de um mês de lactância (p<0,05). Foi encontrado um OR de 1,24 para a associação da idade e a mastite (p<0,05). Para a lavagem de mãos encontrou-se um OR de 0,36 em comparação com não fazê-lo (p<0,05). Em conclusão, foi encontrada uma alta frequência de mastite por vaca. O micro-organismo encontrado com mais frequência foi o Streptococcus agalactiae. O trauma poderia ser uma causa importante de mastite dado que não se observou crescimento bacteriano em 23,9% dos cultivos de mostras de leite de quartos com mastite...

Prevalence of Parkinson's disease and parkinsonism in a Colombian population using the capture-recapture method.

Our objective was to estimate the prevalence of Parkinson's disease (PD) and Parkinsonism (Ps) in Antioquia (Colombia), using the Capture-Recapture method. The two biggest institutions for attending neurological patients in Antioquia were selected as sources for the use of the Capture-Recapture method. Prevalences of PD (PPD) and Ps (PPs) were estimated according to the following expression: PPD (or PPs) = n/Nl105. The number of cases (n) of PD (or Ps), n = a + b + c + d, where a = cases identified from the two sources, b = cases identified only in the first source, c = cases identified only in the second source, and d = nondetected cases from any source = bc/a. The projected Antioquian population for the year 2000 was used as denominator. Information obtained between January 1, 1996, and December 31, 2000, was reviewed in order to identify the clinical records of all patients that fulfilled the Ps or PD criteria. General prevalence of PD in Antioquia was 30.7/100.000 (C195% = 29.2-32.2), and that of Ps was 42.1/100.000 (CI95% = 40.3-43.8). Prevalence of PD in people older than 50 years was 176.4/100.000 (CI95% = 166.6-186.3) and that of Ps was of 339.6/100.000 (C195% = 326.0-353.2). Ps and PD prevalences in Antioquia were lower than the figures reported by the National Neuroepidemiologic Study (470/100.000) and similar to the estimated prevalence of these diseases in Caucasian populations (80 to 270/100.000). These findings evidence the great variability of PD prevalence in different regions; therefore, a nationwide study is necessary to determine the prevalence of PD and Ps in Colombia.

Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11.

Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is the most common behavioral disorder of childhood. Twin, adoption, segregation, association, and linkage studies have confirmed that genetics plays a major role in conferring susceptibility to ADHD. We applied model-based and model-free linkage analyses, as well as the pedigree disequilibrium test, to the results of a genomewide scan of extended and multigenerational families with ADHD from a genetic isolate. In these families, ADHD is highly comorbid with conduct and oppositional defiant disorders, as well as with alcohol and tobacco dependence. We found evidence of linkage to markers at chromosomes 4q13.2, 5q33.3, 8q11.23, 11q22, and 17p11 in individual families. Fine mapping applied to these regions resulted in significant linkage in the combined families at chromosomes 4q13.2 (two-point allele-sharing LOD score from LODPAL = 4.44 at D4S3248), 5q33.3 (two-point allele-sharing LOD score from LODPAL = 8.22 at D5S490), 11q22 (two-point allele-sharing LOD score from LODPAL = 5.77 at D11S1998; multipoint nonparametric linkage [NPL]-log[P value] = 5.49 at approximately 128 cM), and 17p11 (multipoint NPL-log [P value] >12 at approximately 12 cM; multipoint maximum location score 2.48 [alpha = 0.10] at approximately 12 cM; two-point allele-sharing LOD score from LODPAL = 3.73 at D17S1159). Additionally, suggestive linkage was found at chromosome 8q11.23 (combined two-point NPL-log [P value] >3.0 at D8S2332). Several of these regions are novel (4q13.2, 5q33.3, and 8q11.23), whereas others replicate already-published loci (11q22 and 17p11). The concordance between results from different analytical methods of linkage and the replication of data between two independent studies suggest that these loci truly harbor ADHD susceptibility genes.

Caracterización clínica y de conglomerados de clases latentes de la migraña familiar en el aislado genético de Antioquia / Clinical and latent class cluster characteristics of familiar migraine in the antioquian genetic isolate

INTRODUCCIÓN: la migraña es una entidad de alta prevalencia cuya etiología parece tener un gran componente genético. OBJETIVOS: determinar las características clínicas y la de conglomerados de clases latentes (CCL) en las familias colombianas de la región de Antioquia con un caso índice con cefalea crónica. MATERIAL Y MÉTODOS: se estudiaron 550 individuos (374 mujeres y 176 hombres) de 121 familias colombianas de la región de Antioquia. A todos se les hizo una pregunta de rastreo para seleccionar a los miembros con posible migraña. A los sospechosos se les hizo una entrevista con los criterios de la International Headache Society (IHS) y un examen neurológico para establecer el diagnóstico y su clasificación en migraña con aura (MCA) y migraña sin aura (MSA). Los criterios de la IHS fueron usados para hacer un análisis de CCL, calculando índices de máxima verosimilitud y controlando el cumplimiento del supuesto de la independencia local. RESULTADOS: el 61,6 % de los miembros de las familias tuvieron migraña. El 40 % tuvo MSA y el 21,6 % MCA. La intensidad fue de moderada a severa en 96,4 % de los casos. Aproximadamente el 70 % presentaron síntomas de náuseas, vómitos, sonofobia, fotofobia e incremento con el ejercicio. Se derivaron 4 CCL: uno con MSA+MCA, con alta probabilidad de ser mujeres y con crisis de inicio temprano; otro grupo de personas sanas de ambos sexos; un tercero con MSA de aparición a edad intermedia, con crisis moderadas a severas de larga duración y predominante de mujeres; y un cuarto grupo de mujeres con MSA de aparición temprana y crisis de corta duración. CONCLUSIONES: las características clínicas de los pacientes con migraña de estas familias son similares a lo informado en otros estudios. La distribución de los CCL hace pensar en una probable transmisión de una predisposición genética que, en interacción con factores ambientales, determinaría la edad de inicio de las crisis y si esas son de tipo MSA o MSA+MCA.

INTRODUCTION: migraine is a disorder with high prevalence and with probable genetic etiology. OBJECTIVE: to determine the clinical and latent class cluster (LCC) characteristics of Antioquian families with one probands with chronic headache. MATERIALS AND METHODS: 550 individuals (374 females and 176 males) were studied. All participants were asked with one screening question in order to select suspicious of migraine. An interview with the International Headache Society (IHS) criteria and a neurological examination were administered to all probably migraine affected patients. Migraine diagnosis and classification into migraine with aura (MA) and migraine without aura (M0) was done. The IHS were used to develop a LCC analysis, calculating maximum likelihood index and controlling the local independence assumption. RESULTS: 61,6 per cent of the family members were affected with migraine, 40 per cent had M0 and 21,6 per cent had MA. Intensity was estimated between moderate to severe by 96,4 per cent of the cases. Approximately 70 per cent had nausea, vomiting, sonophobia, photophobia and worsening with exercise. 4 LCC were derived: one with M0 + MA, with high probability to be females, and early onset crisis; other group was constituted by healthy people of both genders; the third cluster had M0 of intermediate age onset, with moderate to severe attack, with long duration and predominantly females; finally a 4th cluster of females with M0 of early onset and short duration. CONCLUSIONS: clinical characteristics of migraine patients in these Antioquian families were similar to those informed by others studies. The distribution of LCC suggests a genetic transmission of vulnerability, which interacting with several environmental factors, would determine the age of onset and the types of attacks as M0, or M0+MA.

Evaluación del método ELISA de punto para el diagnóstico de la cisticercosis humana y para estimar valores de prevalencia en una región endémica en Colombia / Evaluation of the ELISA method for diagnosis of human cysticercosis in an endemic region

Introducción . La cisticercosis continúa siendo un problema de salud pública a nivel mundial. El diagnóstico de esta enfermedad se hace por medio de la detección de anticuerpos específicos y de técnicas de imaginología. Objetivo. Evaluar la ELISA de punto, método inmunoenzimático, en la detección de anticuerpos contra Taenia solium para ser usado tanto en pacientes con neurocisticercosis como en poblaciones donde es endémica. Materiales y métodos . Se utilizaron 45 muestras de suero, 41 de plasma y 23 de líquido cefalorraquídeo de pacientes con cisticercosis confirmada según criterios clínicos, quirúrgicos, imaginológicos y de laboratorio. Además, se estudiaron 37 muestras de suero, 64 de plasma y 17 de líquido cefalorraquídeo de personas que no presentaban cisticercosis y que no tenían antecedentes epidemiológicos de teniosis-cisticercosis. Se evaluaron también 43 muestras de suero de personas con parasitosis diferentes a cisticercosis y 663 muestras de suero de unestudio de seroprevalencia de cisticercosis en una comunidad rural colombiana. Las muestras se procesaron tanto por inmunoelectrotransferencia como por la ELISA de punto. La inmunoelectrotransferencia se utilizó como prueba de oro para establecer la sensibilidad y laespecificidad de la ELISA de punto. Se analizaron 933 muestras. Resultados. Con las 109 muestras de los individuos afectados por cisticercosis y las 118muestras de controles sanos se hicieron los análisis estadísticos de validación de la prueba diagnóstica y se obtuvo para la ELISA de punto una sensibilidad total de 80,7 por ciento(IC95 por ciento: 80,2 por ciento a 81,2 por ciento) y una especificidad de 92,4 por ciento(IC95 por ciento: 91,9 por ciento a 92,8 por ciento). La ELISA de punto realizado con suero, plasma y líquido cefalorraquídeo tuvo una sensibilidad de 91,1 por ciento, 85,4 por ciento y 52,12 por ciento, respectivamente. La misma prueba evaluada en suero, plasma y líquido cefalorraquídeo tuvo una especificidad de 100 por ciento, 85,9 por ciento y 100 por ciento, respectivamente. Las 43 muestras de personas con otras parasitosis diferentes de cisticercosis fueron negativas para ambas pruebas.Cuando la ELISA de punto se utilizó para el diagnóstico de la cisticercosis en una población endémica colombiana en la que 1,81 por ciento(12/663) de las personas presentó anticuerpos para T. solium por...

Neuroimagen en la enfermedad de Marchiafava Bignami / Neuroimagen in a case of Marchiafava-Bignami disease

La enfermedad de Marchiafava Bignami (EMB) es una entidad de. Muy baja frecuencia de distribución mundial en la que se produce desmielinización tóxica progresiva y necrosis del cuerpo calloso con extensión ocasional a la sustancia blanca subcortical adyacente, asociada principalmente al consumo crónico de bebidas alcohólicas. Según los datos revisados entre 1987-1997 sólo se han publicado 36 casos en la literatura médica mundial; éste constituye el primer caso reportado en Colombia.

Edad de comienzo de la epilepsia idiopática en pares de relacionados biológicos / Age of presentation from the ideopatic epilepsy in biological related couples

Con la finalidad de examinar el espectro de la edad de inicio de la epilepsia idiopática en familias extendidas multigeneracionales y determinar si existe real anticipación genética o si dicho fenómeno puede ser explicado en términos de sesgo de búsqueda o reclutamiento, se diseñó un experimento de comparación de la edad media de inicio de la enfermedad entre pares de relacionados biológicos (padres-hijos, abuelos-nietos, tios y sobrinos) mediante el uso de la prueba no paramétrica apareada de Wilcoxon para determinar si existen diferencias significativas mayores de 0, lo que refuta la hipótesis nula de no anticipación. Un total de 84 pares de relacionados biológicos se construyeron a partir de 72 genealogías extendidas multigeneracionales. Las edades de inicio del cuadro epiléptico de los pares mostraron una diferencia significativamente >0 confirmando la existencia de diferencia intergeneracional con una tendencia al inicio más temprano en la medida que transcurren las generaciones. Esto ocurrió en todos los pares relacionados biológicos lo que está en contra de sesgos de reclutamiento. Estos resultado plantean la existencia de mutaciones inestables o producidas por un número variable de repeticiones nucleotídicas en salvas como una probable explicación de la susceptibilidad para desarrollar algunas de las formas de epilepsia idiopática