Severe Craniofacial Involvement due to Amniotic Band Sequence.

BACKGROUND: Disruptive amniotic band sequence (DABS) is a sporadic, non-familial disorder with unclear etiology. Diagnosis is based on clinical features because there is currently no reliable laboratory diagnostic tests. OBJECTIVE: We describe six cases of DABS with severe craniofacial deformations, three with and three without classical constrictive limb deformation. RESULTS: The craniofacial deformities were delimited by peripheral sharply demarcated scarring. CONCLUSION: When a sharply demarcated linear disruptive craniofacial lesion is observed, DABS should be considered despite the absence of constrictive limb scarring.

1,2:3,4-Diepoxybutane Induces Multipolar Mitosis in Cultured Human Lymphocytes.

1,3-Butadiene, a colorless gas regularly used in the production of plastics, thermoplastic resins, and styrene-butadiene rubber, poses an increased leukemia mortality risk to workers in this field. 1,3-Butadiene is also produced by incomplete combustion of motor fuels or by tobacco smoking. It is absorbed principally through the respiratory system and metabolized by several enzymes rendering 1,2:3,4-diepoxybutane (DEB), which has the highest genotoxic potency of all metabolites of 1,3-butadiene. DEB is considered a carcinogen mainly due to its high potential as clastogen, which induces structural chromosome aberrations such as sister chromatid exchanges, chromosomal breaks, and micronuclei. Due to its clastogenic effect, DEB is one of the most used agents for diagnostic studies of Fanconi anemia, a recessively inherited disease related to mutations affecting several genes involved in a common DNA repair pathway. When performing Fanconi anemia diagnostic tests in our laboratory, we have observed occasional multipolar mitosis (MM) in lymphocyte cultures exposed to 0.1 µg/ml of DEB and harvested in the absence of any mitotic spindle inhibitor. Although previous studies reported an aneugenic effect (i.e. it induces aneuploidy) of DEB, no mechanism was suggested to explain such observations. Therefore, the aim of this study was to investigate whether exposure to 0.1 µg/ml of DEB is significantly associated with the occurrence of MM. We blindly assessed the frequency of MM in lymphocyte cultures from 10 nonsmoking healthy individuals. Two series of 3 cultures were performed from each sample under different conditions: A, without DEB; B, with 0.1 µg/ml of DEB, and C, with 25 µM of mitomycin C as positive control. Cultures exposed to DEB showed higher frequencies of MM (23 of 2,000 cells) than did the unexposed ones (3 of 2,000 cells).

Do Teachers Confirm Parent's Ratings of ADHD DSM-IV Criteria? A Study of a Mexican Population.

BACKGROUND AND OBJECTIVE: Collecting information from different raters is important for diagnosing ADHD, but several factors can lead to gathering discrepant information. Our aim was to determine the agreement between parent and teacher's when rating the list of ADHD symptoms (criterion A, DSM-IV) in a sample of Mexican school-age children. We explored whether inter-rater agreement varied by children's age and sex, and each symptom of inattention, hyperactivity, and impulsivity. METHODS: A total of 789 children (335 girls) from six elementary school grades grouped as G1 [grades 1-2], G2 [grades 3-4], and G3 [grades 5-6]) were rated by their parents and teachers. We identified inter-rater reliability by using Cohen's kappa coefficient by school level, sex, and ADHD symptoms. We explored the presence of symptoms considering parents' and teachers' ratings, individually and collapsed, using the AND/OR rules. RESULTS: Low inter-rater agreement was observed. Moderate levels were observed in G1, but not in G2 or G3. Both groups of informants reported that more boys than girls met these criteria, but agreement by sex was still low, as were the results of the analyses by individual symptoms. Among the children that met the ADHD criteria, an inattention symptom was the one most frequently reported by both raters, whereas among non-ADHD children, a hyperactive symptom was the one most often reported. DISCUSSION: The exclusive use of questionnaires fails to provide convergent information between raters. We highlight the importance of conducting comprehensive clinical histories when diagnosing ADHD in order to explore what these discrepancies show about the relationship symptoms/context.

Anticipatory oculomotor responses in parents of children with attention deficit hyperactivity disorder.

OBJECTIVE: Diminished inhibitory control has been proposed as a core characteristic and potential endophenotype of attention deficit hyperactivity disorder (ADHD). If this is the case, one would expect to find this trait among first-degree relatives of individuals with ADHD. The aim of this study, therefore, was to determine whether the oculomotor measures typically related to inhibitory control failures in individuals with ADHD are also observed among those relatives. METHODS: Using prosaccadic and antisaccadic tasks in gap and overlap conditions, we assessed a group of unaffected parents of children with ADHD symptoms and compared them to a group of unaffected parents of children with typical development. Direction errors, anticipatory errors and saccadic reaction times were analyzed. We also determined the presence of ADHD behaviors (in adulthood and childhood) in all participants. RESULTS: No between-group differences were observed for the antisaccadic measures, but the group of parents of children with ADHD made more anticipatory responses on the prosaccadic-gap task than the parents of controls. A moderate association between these anticipatory errors and dimensional inattention scores was also found. CONCLUSIONS: Saccadic performance differed between the two groups of parents, as those with children with ADHD showed a failure to withhold the initiation of responses in the absence of external control references (gap condition) on tasks with low cognitive load (prosaccadic). These anticipatory responses were related to inattention traits. Our results support the familial compound of ADHD as a multifactorial disorder.

[True hermaphroditism and sequences. Diagnostic implications regarding two cases]. / Hermafroditismo verdadero y secuencias del cromosoma Y. Implicaciones a propósito de dos casos.

True hermaphroditism is a disorder of sexual differentiation characterized by the presence of ovarian and testicular tissue in a person and it determines an increased risk for developing gonad cancer. Diagnostic and medical-surgical procedures with opportunity and successful in true hermaphroditism, facilitate the prevention of gonadoblastoma, besides contributing to solving social problem for assignation of sex. In this paper we present two cases with true hermaphroditism that had cytogenetic analysis and search for sequences of chromosome Y. Both patients, had a karyotype 46,XX and showed positive polymorphic regions in chromosome Y. The molecular detection of the Y chromosome is a non-invasive and fast procedure that allows explore cell lines by cytogenetic analysis. We conclude that this procedure is useful as it streamlines the management of disorders of sexual differentiation to identify individuals with higher risk to gonad cancer.

A 9p13-->p24 duplication coupled with a whole 22q translocation onto 9p24.

We report on a 3-year-old girl with a typical 9p trisomy syndrome, whose 45-chromosome karyotype includes a 9p+. As assessed by G, C and Ag-NOR bands, the rearranged chromosome resulted from a 9p13-->p24 direct duplication coupled with a translocation of the whole 22q onto 9pter, had heterochromatin at the junction site, lacked both nucleolar organizing regions (NORs) and centromere dots at the unconstricted fusion point, and was present in all metaphases scored. FISH results: a 9p subtelomere probe gave a diminished signal on the 9p+ precisely at the duplication junction 9p24::9p13, but no labeling was observed at the 9;22 translocation site; a pancentromeric alphoid probe labeled all centromeres, and gave a distinct signal at the 9pter;22cen junction. Hence, her karyotype was 45,XX,rea(9;22)(9qter-->9p24::9p13-->9p24::22p10-->22qter).ish rea(9;22) (9psubtel+dim,pancen+). Parental chromosomes were normal. The distinctiveness of the present centromere-telomere fusion rests on the coupling of an intrachromosomal distal duplication with a whole-arm translocation including alphoid DNA onto the duplicated segment. The centromeric inertia of the residual alphoid DNA in the present case compares with the variable functional status of the chromosome 22 centromere in true heterodicentrics involving such a chromosome.

Neuropsychological Impairment in School-Aged Children Born to Mothers With Gestational Diabetes.

The aim of this study was to determine whether school-aged children born to mothers with gestational diabetes show delays in their neuropsychological development. Several key neuropsychological characteristics of 32 children aged 7 to 9 years born to mothers with gestational diabetes were examined by comparing their performance on cognitive tasks to that of 28 children aged 8 to 10 years whose mothers had glucose levels within normal limits during pregnancy. The gestational diabetes group showed low performance on graphic, spatial, and bimanual skills and a higher presence of soft neurologic signs. Lower scores for general intellectual level and the working memory index were also evident. Our results suggest that gestational diabetes is associated with mild cognitive impairment.

Hardy-Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases.

The aim of this study was to obtain the genotype and gene frequency from parents of children with attention-deficit/hyperactivity disorder (ADHD) and then assess the Hardy-Weinberg equilibrium of genotype frequency of the variable number tandem repeat (VNTR) III exon of the dopamine receptor D4 (DRD4) gene. The genotypes of the III exon of 48 bp VNTR repeats of the DRD4 gene were determined by polymerase chain reaction in a sample of 30 parents of ADHD cases. In the 60 chromosomes analyzed, the following frequencies of DRD4 gene polymorphisms were observed: six chromosomes (c) with two repeat alleles (r) (10%); 1c with 3r (1.5%); 36c with 4r (60%); 1c with 5r (1.5%); and 16c with 7r (27%). The genotypic distribution of the 30 parents was two parents (p) with 2r/2r (6.67%); 1p with 2r/4r (3.33%); 1p with 2r/5r (3.33%); 1p with 3r/4r (3.33%); 15p with 4r/4r (50%); 4p with 4r/7r (13.33); and 6p with 7r/7r (20%). A Hardy-Weinberg disequilibrium (χ (2)=13.03, P<0.01) was found due to an over-representation of the 7r/7r genotype. These results suggest that the 7r polymorphism of the DRD4 gene is associated with the ADHD condition in a Mexican population.

Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome).

Spondylospinal thoracic dysostosis can be considered a type of spondylocostal dysostosis because of the occurrence of vertebral defects (hemivertebrae and vertebral body fusion) and thoracic anomalies (short thorax and pulmonary hypoplasia). This syndrome was described by Johnson et al. (1997) in two siblings with dwarfism, short thorax, curved spine, fusion of the vertebrae and spinal process, multiple pterygium, and arthrogryposis. We describe the case of a 16-year-old Mexican girl with the longest survival recorded (the previous oldest patient was 7 years old) and analyze the natural history and describe some new features of this rare entity.

[Caudal duplication: case report]. / Duplicación caudal: reporte de caso.

BACKGROUND: The caudal duplication syndrome is defined by the association between gastrointestinal, genitourinary, and distal neural tube malformations and duplications. We presented a case report and the possible embryologic origin is discussed. CLINICAL CASE: We describe a twenty-one year female patient, with clinical and imaging diagnosis of caudal duplication. She has normal psychomotor development. CONCLUSIONS: The current case integrates a Caudal Duplication with no alteration of the spinal column. We propose that this malformation result from an insult in the primitive hindgut.

Methylenetetrahydrofolate reductase gene 677CT polymorphism and isolated congenital heart disease in a Mexican population.

INTRODUCTION AND OBJECTIVES: The frequency of the 677C>T mutation in the methylenetetrahydrofolate reductase gene in Mexico is one of the highest worldwide. Some studies have shown that both the homozygous state of this mutation and a high homocysteine concentration are associated with congenital heart disease. The aim of this study was to determine whether this association exists in the Mexican population. METHODS: Genotypes were analyzed in 60 patients with congenital heart disease and in their mothers, and the levels of homocysteine were determined in the latter group. The genotypes were compared with those of a control group (n=62) and of their mothers. All the possible mother-child genotype combinations were also compared. RESULTS: There were no significant differences in allele or genotype frequencies between the patients with congenital heart disease and the controls or their respective mothers (P>.05). Although no significant differences were observed when the homocysteine concentrations in the presence of the CC or the TT genotype were compared, a clear trend was observed (P=.0621). We found no significant differences in homocysteine concentrations in relation to folic acid intake. The study cases and controls did not differ in terms of the possible combinations of mother-child genotypes. CONCLUSIONS: The frequencies obtained were consistent with those reported for Mexico. No significant differences were found between groups. Nor did we find any association between TT mutations in both the mother and child and hyperhomocysteinemia. There was no evidence of an association between any of the mother-child genotype combinations and congenital heart disease. Similar studies with larger numbers of patients are required to confirm or refute some of the trends observed in this report.

Características del trastorno por déficit de atención e hiperactividad en escolares mexicanos de acuerdo con la percepción de los padres / Attention deficit-hyperactivity disorder traits among Mexican school-age children according to parents perception

El trastorno por déficit de atención e hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo que más se detectan en la infancia. El objetivo del presente estudio fue estimar la prevalencia del TDAH en una muestra de niños mexicanos de edad escolar. Se estudiaron 6639 alumnosde escuelas públicas de Guadalajara, Jalisco, México, a los que se les levantó una encuesta con el informe de los padres en un cuestionario diseñado bajo los criterios que el DSM-IV considera para el diagnóstico de TDAH. Se re cuperaron y analizaron 4399 cuestionarios. De acuerdo con el informe de los padres, el 8.9% de los niños tienen un perfil de conductas compatibles con los criterios del DSM-IV para el diagnóstico de TDAH. La proporción masculino: femenino fue de 2:1. La distribución por subtipos fue: 147 escolares con tipo combinado, 132 inatento y 114 del tipo hiperactivo-impulsivo. La prevalencia fue mayor del primero al tercer grado que del cuarto al sexto. La prevalencia de TDAH calculada se encuentra dentro del rango informado en otros países. Los estudios realizados en grandes muestras son útiles para diseñar estrategias de intervención acordes a la población en cuestión.

Attention deficit with hyperactivity disorder (ADHD) is one of the most frequent neuro developmental disorders identified in children. The aim of this study was to estimate the prevalence of ADHD behaviour in a sample of Mexican school-aged children. Data were obtained from 6639 pupils enrolled in public elementary schools in Guadalajara, Jalisco, Mexico. Prevalence was based on parental reports collected using the full DSM-IV criteria. A total of 4399 questionnaires were received and analysed. According to the parents, 8.9% of the children met the DSM-IV ADHD criteria. The male: female ratio was 2:1. Distribution by subtypes was as follows: 147 children with combined type, 132 inattentive children, and 114 with the hyperactive-impulsive type. Prevalence was higher from first grade to third grade than it was from fourth to sixth grade. The calculated ADHD prevalence is consistent with the range reported by other countries. Studies conducted with large samples are useful in the design of intervention strategies in accordance with the target population.

Polimorfismo 677CT del gen de la metilentetradihidrofolato reductasa y cardiopatías congénitas aisladas en población mexicana / Methylenetetrahydrofolate reductase gene 677CT polymorphism and isolated congenital heart disease in a mexican population

Introducción y objetivos. México tiene alta frecuencia de la mutación 677C>T del gen de la enzima metilentetrahidrofolato reductasa. Se ha demostrado que esta mutación en estado homocigoto y la hiperhomocisteinemia se asocian a cardiopatías congénitas. Nuestro objetivo es determinar si existe dicha asociación en la población mexicana. Métodos. Se analizaron los genotipos de 60 pacientes con cardiopatías congénitas y sus madres, así como las concentraciones de homocisteína en estas, y se los comparó con los genotipos del grupo control (n = 62) y sus madres. También se compararon las combinaciones de los genotipos madre-hijo en ambos grupos. Resultados. No se encontraron diferencias significativas de las frecuencias alélicas y genotípicas entre las pacientes con cardiopatía congénita y sus controles ni en sus madres (p > 0,05). Aunque no se encontraron diferencias entre la concentración de homocisteína y la presencia del genotipo CC o TT, la tendencia fue evidente (p = 0,0621). No se encontraron diferencias significativas en las concentraciones de homocisteína dependientes de la ingesta de ácido fólico. El análisis de las diferentes combinaciones genotípicas del binomio madre-hijo entre casos y controles no mostró diferencias significativas. Conclusiones. Las frecuencias obtenidas concuerdan con las publicadas para nuestro país. No se encontraron diferencias significativas entre los grupos. Tampoco se encontró asociación de la mutación TT con hiperhomocisteinemia. No hay asociación entre las combinaciones genotípicas madre-hijo y las cardiopatías. Es necesario desarrollar estudios semejantes con un mayor número de pacientes para confirmar o descartar algunas tendencias observadas en este trabajo (AU)

Introduction and objectives. The frequency of the 677C>T mutation in the methylenetetrahydrofolate reductase gene in Mexico is one of the highest worldwide. Some studies have shown that both the homozygous state of this mutation and a high homocysteine concentration are associated with congenital heart disease. The aim of this study was to determine whether this association exists in the Mexican population. Methods. Genotypes were analyzed in 60 patients with congenital heart disease and in their mothers, and the levels of homocysteine were determined in the latter group. The genotypes were compared with those of a control group (n=62) and of their mothers. All the possible mother-child genotype combinations were also compared. Results. There were no significant differences in allele or genotype frequencies between the patients with congenital heart disease and the controls or their respective mothers (P>.05). Although no significant differences were observed when the homocysteine concentrations in the presence of the CC or the TT genotype were compared, a clear trend was observed (P=.0621). We found no significant differences in homocysteine concentrations in relation to folic acid intake. The study cases and controls did not differ in terms of the possible combinations of mother-child genotypes. Conclusions. The frequencies obtained were consistent with those reported for Mexico. No significant differences were found between groups. Nor did we find any association between TT mutations in both the mother and child and hyperhomocysteinemia. There was no evidence of an association between any of the mother-child genotype combinations and congenital heart disease. Similar studies with larger numbers of patients are required to confirm or refute some of the trends observed in this report (AU)

Diabetes mellitus gestacional y malformaciones congénitas / Diabetes mellitus and congenital malformations

La diabetes mellitus (DM) materna (gestacional o pregestacional) afecta aproximadamente a 5 por ciento de todos los embarazos. La DM pregestacional se ha asociado con un riesgo incrementado de abortos espontáneos y malformaciones congénitas durante el primer trimestre del embarazo, por lo que se considera teratogénica. La frecuencia de defectos al nacimiento es tres a cinco veces mayor, en comparación con Ia población general, por otro lado, aún no se ha demostrado una asociación de Ia diabetes mellitus gestacional (DMG) con un incremento en Ia prevalencia de malformaciones congénitas, aunque algunos estudios clínicos y epidemiológicos de esta posible asociación han informado Ia presencia de DMG en madres de niños con malformaciones congénitas. El objetivo del presente estudio fue comparar Ia prevalencia de malformaciones congénitas asociadas con DMG en relación con diabetes mellitus pregestacional y población general. Material y método. Se compararon tres grupos: el grupo I estuvo formado por 112 recién nacidos (RN) hijos de madres con DMG, en el grupo 2 se estudiaron 30 RN hijos de mujeres con DM pregestacional y el grupo 3 se integró por 103 RN hijos de mujeres sanas. Todos ellos fueron captados consecutivamente en un periodo de 18 meses. Resultados. Se detectó un total de 24 casos con malformaciones congénitas. El grupo con una mayor prevalencia fue el grupo 2 (30 por ciento). Se encontró una tendencia a un riesgo mayor de malformaciones congénitas en los casos expuestos a DMG, sin que exista una significancia estadística. El análisis de los antecedentes de las madres de los niños del grupo 2 que presentaron malformaciones congénitas muestra diferencias significativas en el antecedente de productos previos macrosómicos (PEF= 0.01) en comparación con los antecedentes de las madres del mismo grupo que tuvieron hijos sanos. Comentario. Los resultados del análisis realizado en Ia población estudiada no demuestran una asociación entre Ia DMG y malformaciones congénitas, aunque sí existe una tendencia a cifras mayores en comparación con Ia población no expuesta. Esto puede ser debido a que Ia DMG es un trastorno heterogéneo con primer reconocimiento durante el embarazo, y es posible que se detecte hasta etapas tardías, por lo que estas pacientes pueden cursar con una intolerancia a la glucosa desde las primeras semanas de gestación con el efecto teratogénico ya descrito