[Clinical characterisation and power simulations to detect genetic linkage in attention deficit hyperactivity disorder in Antioquian families]. / Caracterización clínica y simulaciones de poder para ligamiento genético en el trastorno por déficit de atención con hiperactividad en familias antioqueñas.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is a neurobehavioural disorder whose essential characteristic is a persistent pattern of inattention or hyperactivity and impulsiveness. Recent studies into prevalence carried out on the Antioquian population by our group found an overall prevalence of 15.8%, which confirms ADHD as one of the most frequent problems in infancy. The cause of this disorder is still not altogether clear; familial aggregation of ADHD points towards a genetic component. Although to date no model of inheritance has been defined, its high prevalence rate, the difficulties involved in its diagnosis and its effects on the cognitive functions, as well as the social and educational repercussions, make this disorder a problem in children's public health. AIMS: Our aim was to carry out power simulations to detect genetic linkage. PATIENTS AND METHODS: The Slink programme, which is part of Linkage package, was used in six families from the city of Medellín Antioquia, which is a region where a founding effect is likely to have taken place; this makes it a strategic zone for genetic linkage studies in complex diseases such as ADHD. RESULTS: Assuming the population to be homogenous, the lod score (Z) is greater than 3 (Z>3) and individual lod score values of between 0 and 6 were obtained for each family. CONCLUSIONS: In this paper we discuss the benefits of having multigenerational families, in Antioquia, to conduct gene mapping studies and we examine the different strategies to be developed with the findings reported here.

[Immunodiagnosis of neurocysticercosis: comparative study of antigenic extracts from Cysticercus cellulosae and Taenia crassiceps]. / Inmunodiagnóstico de la neurocisticercosis: estudio comparativo de extractos antigénicos de Cysticercus cellulosae y Taenia crassiceps.

Different antigenic extracts of Taenia solium and Taenia crassiceps were evaluated in connection with the detection of antibodies in patients with neurocysticercosis aimed at selecting immunorelevant antigens for the diagnosis of neurocysticercosis by means of the immunoenzymatic assay and immunoblotting. The vesicular fluid of T. crassiceps proved to be more sensitive (100%) and specific (86%). On using the immunoblotting technique it was also observed that this extract was the most sensitive and specific. Within the protein profile of the antigen the band of 18 kDa was mostly recognized by the serum and cerebrospinal fluid of patients with neurocysticercosis. The vesicular fluid of T. crassiceps represents an alternative in the optimization of the diagnosis of neurocysticercosis in the serum and cerebrospinal fluid and in the substitution of T. solium antigens due to its high sensitivity and specificity and to its easy obtention under controlled laboratory conditions.

Nuevas fracciones antigénicas para el inmunodiagnóstico de la neurocisticercosis / New antigenic fractions for neurocysticercosis diagnosis

La neurocisticercosis (NCC) es la enfermedad parasitaria más frecuente del sistema nervioso central causada por la forma larvaria enquistada de la Taenia solium, su diagnóstico se basa en la integración de datos clínicos imagenológicos y serológicos. La detección de anticuerpos específicos usando el ensayo inmunoenzimático (ELISA) es una útil estrategia para confirmar el diagnóstico de la NCC. Estudios previos demuestran que la Taenia crassiceps y la Taenia solium tienen similitud estructural y antigénica; en este trabajo evaluamos antígenos de ambos parásitos frente a 68 líquidos cefalorraquídeos y 40 sueros pertenecientes a casos confirmados de NCC y a controles. Para cumplir tal objetivo enfrentamos en ELISA las muestras de los pacientes contra cada uno de tres extractos antigénicos de cada tenideo: el fluido vesicular, la membrana externa y el extracto total. El análisis estadístico demostró una alta sensibilidad y especificidad de los antígenos de la T.crassiceps, especialmente el fluido vesicular; el cual dio una sensibilidad de 90,3 por ciento, una especificidad de 94,5 por ciento y valores predictivos positivos y negativos de 93,3 por ciento y 92,1 por ciento frente a los LCR. Estos atributos hacen de esta fracción parasitaria una herramienta de gran utilidad en el diagnóstico de la NCC, pudiendo sustituir los antígenos procedentes de carcasas de cerdos infectados naturalmente con T.solinum

Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City.

BACKGROUND: Microtia is a malformation of the ear with extreme variability of expression. It is generally seen as an isolated malformation. However, some authors consider it to be a minimal manifestation of the oculo-auriculo-vertebral spectrum (OAVS), where, in addition, there are facial, vertebral, and renal abnormalities, among others. METHODS: A total of 145 pediatric patients with unilateral or bilateral microtia not considered as part of a syndrome were studied. All patients were subjected to an intentional clinical examination, a familial history, and radiographic imaging studies for ruling out associated malformations. Patients were classified into two groups: group 1 (60%), with isolated microtia; and group 2 (40%), considered as OAVS, with microtia associated with hemifacial skeletal microsomia, vertebral and/or renal malformations. RESULTS: No significant differences were found between the groups when the following variables were compared: gender; presence of unilateral or bilateral microtia; atretic external auditory canal; presence of preauricular tags; hearing loss of any type, and affection of the seventh cranial nerve, as well as associated malformations of other organs or systems. There were significant differences in relation to the presence of soft-tissue hemifacial microsomia, more frequently seen in patients with OAVS, because the majority of these patients had bone microsomia. Over 66% of the cases were sporadic and the rest were familiar. In 28.3% of the cases, the history suggested an autosomal-dominant inheritance pattern, and in 5.5%, an autosomal-recessive inheritance pattern, although in some familial cases, multifactorial inheritance could not be ignored. Some members in several families had isolated microtia, and others had mild characteristic manifestations of OAVS. CONCLUSIONS: Our results support the hypothesis that isolated microtia is a minimal expression of OAVS. Therefore, it is recommended that patients with microtia be subjected to intentional studies that search for malformations and physical examinations of first-degree relatives for adequate genetic counseling and management.

[Etiology of vulvovaginitis in childhood]. / Etiología de la vulvovaginitis en la edad pediátrica.

A prospective study on the causal microorganism of vulvovaginitis was done to 100 ambulatory patients seen at a pediatric gynecology unit of a metropolitan hospital at Santiago, Chile, from november 1988 throughout july 1989. Samples of vaginal discharge were taken from each patient and studied for bacteria, fungi and trichomonas. Search of pinworms was also done in 55 patients by the transparent adhesive tape test. It was possible to confirm the etiology of vulvovaginitis in 81 cases. Bacteria were isolated in 68 of them, fungi in 4, Trichomonas vaginalis in one patient and pinworms in 8.