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Tourette syndrome (TS) is a neuropsychiatric disorder with a strong genetic component. However, the genetic architecture of TS remains uncertain. Copy number variation (CNV) has been shown to contribute to the genetic make-up of several neurodevelopmental conditions, including schizophrenia and autism. Here we describe CNV calls using SNP chip genotype data from an initial sample of 210 TS cases and 285 controls ascertained in two Latin American populations. After extensive quality control, we found that cases (N = 179) have a significant excess (P = 0.006) of large CNV (>500 kb) calls compared to controls (N = 234). Amongst 24 large CNVs seen only in the cases, we observed four duplications of the COL8A1 gene region. We also found two cases with ∼400kb deletions involving NRXN1, a gene previously implicated in neurodevelopmental disorders, including TS. Follow-up using multiplex ligation-dependent probe amplification (and including 53 more TS cases) validated the CNV calls and identified additional patients with rearrangements in COL8A1 and NRXN1, but none in controls. Examination of available parents indicates that two out of three NRXN1 deletions detected in the TS cases are de-novo mutations. Our results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions.

A dot enzyme-linked immunosorbent assay (dot-ELISA) was standardized using excretory-secretory antigens ofKey words: Toxocara canis -toxocariasis -dot enzyme-linked immunosorbent assay -ELISA Human toxocariasis is a world-wide helminthic zoonosis due to the human infection by larvae of Toxocara canis, the common ascarid of dogs, and also by the cat ascarid T. cati (Schantz & Glickman 1983, Despommier 2003. The incidence of human toxocariasis is unknown because toxocariasis is not a communicable disease in the majority of the countries. However, many cases of this disease have been reported throughout the world (Glickman & Schantz 1981, Despommier 2003.Humans are infected by ingestion of embryonated T. canis eggs. Children playing in areas contaminated with dog faeces are in higher risk, because of their likelihood of ingesting soil. Prevalence of Toxocara infestation of dogs and the resulting contamination of the ground is relatively high in many countries all over the world. Reported data range from 0 to 93% for dog infestation (Glickman & Schantz 1981) and 15 to 78% for soil contamination (Gillespie 1988, Magnaval et al. 2001. It has been determined that in Peru from 24 to 80% of soil samples in public playgrounds and parks are contaminated with Toxocara eggs (Buitrón 1976, Guerrero 1995, Lescano et al. 1998, Chavez et al. 2000, Dávalos et al. 2000.Although the clinical features vary, two syndromes are recognized: visceral larva migrans (VLM) and ocular larva migrans (OLM). VLM is usually detected in young children (1 to 5 years of age) with a history of geophagia and/or exposure to puppies. It is a self-limited, rarely lethal disease characterized by fever, cough, wheeze, pallor, malaise, asthma, weight loss, hepatomegaly, and marked eosinophilia (Schantz 1989 mus and, more rarely, eye pain (Shields 1984). Another clinical manifestations of Toxocara infection are "common toxocariasis" in adults and "covert toxocariasis" in children (Schantz 1989, Magnaval et al. 2001.Diagnosis of toxocariasis is based on clinical and serological data because of the difficulty in detecting larvae from tissues. The test currently employed for the serodiagnosis of toxocariasis is ELISA using excretory-secretory antigens from T. canis second-stage larvae (TES) (De Savigny et al. 1979, Jacquier et al. 1991. However, this technique has some drawbacks, including the need for trained personnel, requirement of special equipment, the lack of reproducible reading due to plate-to-plate variation, and may be troublesome to perform under field conditions. Dot-ELISA test, a modification of the standard ELISA test, offers a simple and less expensive tool for toxocariasis detection. The dot-ELISA has been successfully adapted for the detection of parasitic diseases in humans as leishmaniasis, schistosomiasis, toxoplasmosis, and hydatidosis (Pappas et al. 1984, Boctor et al. 1987, Rogan et al. 1991, Elsaid et al. 1995. A dot-ELISA for diagnosis of human toxocariasis was described (Camargo et al. 1992). The present study was conducted to standa...

Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case showed condensed fingerprint profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5 mutations outside northern Europe and that mutations in this gene can lead to an atypical late-onset neuronal ceroid lipofuscinosis disease, in addition to the late infantile form first described in Finland.

Generalized epilepsy with febrile seizures plus (GEFS+) is an inherited epileptic syndrome with a marked clinical and genetic heterogeneity. Here we report the molecular characterization of a large pedigree with a severe clinical form of GEFS+. Genetic linkage analysis implied the involvement of the FEB3 in the disease phenotype of this family (parametric two-point lod-score of 2.2). Sequencing of the SCN1A gene revealed a novel aspartic acid for glycine substitution at position 1742 of this sodium channel subunit. The amino-acid replacement lies in the pore-forming region of domain IV of SCN1A. Our observations are consistent with the genotype-phenotype correlation studies suggesting that mutations in the pore-forming loop of SCN1A can lead to a clinically more severe epileptic syndrome.

Gilles de la Tourette Syndrome (GTS) is a chronic neuropsychiatric disorder characterized by motor and vocal tics. Epidemiological evidence supports the importance of genetic factors in disease susceptibility, whereas pharmacological and neuroimaging studies have suggested a defect in the dopamine system. The dopamine receptor D2 gene (DRD2) has been reported to be associated with GTS and related phenotypes. Here, we evaluate genetic association between DRD2 and GTS in a sample from a South American population isolate (Antioquia, Colombia). We genotyped nine single nucleotide polymorphisms (SNPs) across the DRD2 gene region in 69 GTS patients and their nuclear families and carried out both SNP and haplotype-based transmission distortion analysis. Evidence for association was found for three SNPs (rs6279, rs1079597 and rs4648318) and a five marker-haplotype comprising both rs6279 and rs1079597. Our findings replicate the association of DRD2 and GTS, and are consistent with the proposed connection between the dopamine system and this complex neuropsychiatric disease.

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Introducción. La desnutrición es un problema para quienes la padecen y para el futuro de las sociedades a las que pertenecen. Es importante conocer su magnitud para plantear soluciones. Objetivo. Evaluar el estado nutricional de los niños en el área urbana de Turbo por indicadores antropométricos y alimentarios, e identificar los factores sociodemográficos, ambientales, alimentarios y de salud asociados con el riesgo de desnutrición. Materiales y métodos. Estudio descriptivo de corte transversal. La muestra estuvo conformada por 606 niños. Se hizo una selección aleatoria proporcional y polietápica de los barrios y manzanas del área urbana de Turbo. Se realizó evaluación antropométrica y aplicación de un cuestionario sobre aspectos socioeconómicos y antecedentes nutricionales a la madre.Resultados. Utilizando un punto de corte de -2 unidades Z, las prevalencias de desnutrición global (insuficiencia ponderal), crónica y aguda fueron 11,1% (IC95% 8,5-13,6), 11,7% (IC95% 9,1-14,4) y 2,8% (IC95% 1,4-4,2), respectivamente. Tomando como punto de corte -1 unidades Z, las prevalencias aumentaron a 41,7% (IC95% 37,7-45,8), 36,9% (IC95% 33,0-40,9) y 24,6% (IC95% 21,1-28,1), respectivamente. En el análisis bivariado se encontraron los mayores riesgos de desnutrición global, aguda y crónica para el sexo masculino; de desnutrición global y crónica, para mayores de un año; de desnutrición crónica, para niños que pertenecían a hogares de más de cinco miembros, hijos de mujeres con bajo nivel educativo, que recibieron lactancia materna por más de un año y que tenían más hermanos. Conclusiones. La clasificación del estado nutricional utilizando indicadores antropométricos muestra que el riesgo de desnutrición en la población infantil del área urbana de Turbo estuvo por encima de los promedios nacionales. El estado nutricional está asociado con múltiples factores. De ahí, la importancia de abordarlos intersectorialmente para crear proyectos que den una respuesta integral a esta problemática.Palabras clave: estado nutricional, trastornos de la nutrición del niño, condiciones sociales, indicadores de salud, lactancia materna, alimentación complementaria, políticas públicas de salud. Nutritional status and living conditions in children in an urban area of Turbo, Antioquia, ColombiaIntroduction. Malnutrition is a problem for the persons who suffer it and for the future of the societies to whom they belong. It is important to know its magnitude in order formulate solutions. Objective. The nutritional status of young children was evaluated in an urban area using anthropometric indices and factors associated with risk of malnutrition were identified-sociodemgraphic,environmental, nutritional, and health factors. Materials and methods. In 2004, a cross-sectional descriptive survey was applied to 606 children, aged less than 5 years, in Turbo, a municipality in northwestern Colombia. A proportional, randomized, statistically significant sample of all the neighborhoods of the urban area in Turbo was used. Anthropometric evaluation (weight, ...