Epilepsy and electroencephalographic abnormalities in patients with diagnosis of idiopathic autism spectrum disorder in Medellín.

The objective of the present study was to make a clinical and electroencephalographic characterization of the electrical findings and types of seizures in patients with idiopathic autism. Pediatric patients of any age, with the diagnosis of idiopathic ASD, contained within the database of the research "Genetic in autism" were included. An electroencephalographic recording with epilepsy protocol was performed in all the patients.

Diagnostic yield of the palmomental reflex in patients with suspected frontal lesion.

Background: The purpose of this study was to determine the diagnostic value of the palmomental reflex in order to identify frontal lesions in neurological outpatients.

Methods: Two hundred twenty-six neurological patients with suspected intracranial lesion with an indication for magnetic resonance imaging (MRI) were included. All patients underwent the same MRI protocol.

Segregation of a haplotype encompassing FEB1 with genetic epilepsy with febrile seizures plus in a Colombian family.

Febrile seizures and epilepsy are believed to be linked and some forms of epilepsy are associated with a history of febrile seizures (FS). Linkage analysis to seven known loci for FS and/or genetic epilepsy with febrile seizures plus (GEFS plus) was performed in a small Colombian family. Short tandem repeat (STR) markers were genotyped and two-point linkage analysis and haplotype reconstruction were conducted.

[Evidence for association and epistasis between the genetic markers SLC6A4 and HTR2A in autism etiology].

Introduction: Autism spectrum disorders are severe neurodevelopmental disorders with a strong genetic component. The potential role of the serotoninergic system in the development of autistic disorder has been based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Multiple molecules involved in serotonin metabolism and neurotransmission have been studied; however, replication studies have been inconsistent.

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

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.

Association of DRD2 variants and Gilles de la Tourette syndrome in a family-based sample from a South American population isolate.

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.

[Nutritional status and living conditions in children in an urban area of Turbo, Antioquia, Colombia].

Introduction: 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--socio-demographic,environmental, nutritional, and health factors.

Evaluation of the dot enzyme-linked immunosorbent assay in comparison with standard ELISA for the immunodiagnosis of human toxocariasis.

A dot enzyme-linked immunosorbent assay (dot-ELISA) was standardized using excretory-secretory antigens of Toxocara canis for the rapid immunodiagnosis of human toxocariasis. Thirty patients with clinical signs of toxocariasis, 20 cases with other parasitic diseases, and 40 healthy subjects were tested. A total of 0.

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

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.

A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree.

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.

[Clinical characterisation and power simulations to detect genetic linkage in attention deficit hyperactivity disorder in Antioquian families].

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.

[Cerebrovascular disease in children with sickle cell anaemia].

Introduction: Cerebrovascular disease (CVD) is one of the most clinically devastating complications in children with sickle cell anaemia (SCA) and an important cause of death in this population.

Aims: To determine the incidence of CVD in children with SCA and to characterise the risk factors and other related clinical and imaging aspects.

Patients And Methods: We conducted a retrospective, cross sectional, descriptive study of paediatric patients with SCA and CVD that covered the period between January 1992 and February 2002.

[Clinical and radiological findings in two cases of aspergillosis of the central nervous system in children].

Introduction: Aspergillosis is the second fungemia after candidiasis that affects the central nervous system of immunodeppresed and immunocompetent humans. The literature reports nearly always compromised adults.

Case Reports: Two pediatric cases of central nervous system aspergillosis with different clinical course are presented.

[Clinical characteristics of optical neuritis in children].

Objective: To describe the clinical characteristics and the visual prognosis of a group of children affected with optic neuritis.

Patients And Methods: The clinical charts of patients under 15 years of age with clinical criteria of optic neuritis were revised at the Hospital Universitario San Vicente de Pa l (Medell n, Colombia), in a time span from January 1th 1989 to December 31th 2001.

Results: 16 patients fulfilled the clinical criteria of optic neuritis; 50% were male and the overall mean age was 9,4 years.

Complications of Bothrops, Porthidium, and Bothriechis snakebites in Colombia. A clinical and epidemiological study of 39 cases attended in a university hospital.

The clinical and epidemiological features, as well as complications presented by 39 patients with Bothrops, Porthidium and Bothriechis snakebites, are described. Patients were admitted during 1 year in 25 hospitals of Antioquia and Chocó and then, they were transferred to the Hospital Universitario San Vicente de Paúl in Medellín, 30 of them because of the presence of complications, eight because of lack of antivenoms and another one because of the desire of his relatives. Thirty--one (79.

[Subacute combined degeneration. A description of the case of a strictly vegetarian child].

Introduction: Cyanocobalamin (vitamin B12) is an essential cofactor of various metabolic pathways. Lack of it leads to symptoms which may be constitutional, of skin or mucous membranes, hematological or neuropsychiatric disorders. Neurological involvement in adults has been well described and analyzed in the literature, however there are fewer cases of children.

Paragonimosis in the Cajabamba and Condebamba districts, Cajamarca, Peru.

Stool samples from 409 pre-school and school students, living in six villages of the Cajabamba and Condebamba districts, Cajamarca, Perú, were examined using wet preparations and Lumbreras' method, looking for Paragonimus eggs. Fecal and sputum samples from two children (0. 5%) of 6 and 8 year-old showed eggs of Paragonimus.

Identification of functional domains of Bordetella dermonecrotizing toxin.

Bordetella dermonecrotizing toxin (DNT) stimulates the assembly of actin stress fibers and focal adhesions by deamidating Gln63 of the small GTPase Rho. To clarify the functional and structural organization of DNT, we cloned and sequenced the DNT gene and examined the functions of various DNT mutants. Our analyses of the nucleotide and amino acid sequences revealed that the start codon of the DNT gene is a GTG triplet located 39 bp upstream of the reported putative initiation ATG codon; consequently, DNT contains an additional 13 amino acids at its N-terminal end.