Particle-related exposure, dose and lung cancer risk of primary school children in two European countries.

Schools represent a critical microenvironment in terms of air quality due to the proximity to outdoor particle sources and the frequent lack of proper ventilation and filtering systems. Moreover, the population exposed in schools (i.e. children) represents a susceptible population due to their age. Air quality-based studies involving students' exposure at schools are still scarce and often limited to mass-based particle metrics and may thus underestimate the possible effect of sub-micron particles and particle toxicity. To this purpose, the present paper aims to evaluate the exposure to different airborne particle metrics (including both sub- and super-micron particles) and attached carcinogenic compounds. Measurements in terms of particle number, lung-deposited surface area, and PM fraction concentrations were measured inside and outside schools in Barcelona (Spain) and Cassino (Italy). Simultaneously, PM samples were collected and chemically analysed to obtain mass fractions of carcinogenic compounds. School time airborne particle doses received by students in classrooms were evaluated as well as their excess lung cancer risk due to a five-year primary school period. Median surface area dose received by students during school time in Barcelona and Cassino resulted equal to 110mm2 and 303mm2, respectively. The risk related to the five-year primary school period was estimated as about 2.9×10-5 and 1.4×10-4 for students of Barcelona and Cassino, respectively. The risk in Barcelona is slightly higher with respect to the maximum tolerable value (10-5, according to the U.S. Environmental Protection Agency), mainly due to toxic compounds on particles generated from anthropogenic emissions (mainly industry). On the other hand, the excess lung cancer risk in Cassino is cause of concern, being one order of magnitude higher than the above-mentioned threshold value due to the presence of biomass burning heating systems and winter thermal inversion that cause larger doses and great amount of toxic compounds on particles.

Interaction between airborne copper exposure and ATP7B polymorphisms on inattentiveness in scholar children.

Recent research indicates that airborne copper exposure in scholar children negatively affects brain functioning. These effects are likely to be influenced by the efficiency of copper metabolism, which is partly regulated by the ATPase copper transporting beta (ATP7B) gene. We investigated whether indoor and outdoor airborne copper exposure is differentially associated with child inattentiveness depending on genetic variation within the ATP7B gene in 1645 scholar children from the BREATHE project. Outdoor (courtyard) and indoor (classroom) air pollution levels were measured during class hours in each school. Inattentiveness was assessed through a follow-up with four measurements via the Attentional Network Test (4475 observations). Linear mixed models considering repeated measures were conducted to assess genetic and exposure main and interaction effects. Two interactions were detected indicating that ATP7B-rs1061472 (P for interaction 0.016) and ATP7B-rs1801243 (P for interaction 0.003) polymorphisms modified the association between indoor copper exposure and inattentiveness. Stratified analysis by genotypes revealed that both outdoor and indoor copper exposure increased inattentiveness in rs1061472-CC and rs1801243-CC carriers. These findings suggest that the genetic background promotes the association between airborne copper exposure at school with inattentiveness in children.

Spatiotemporally resolved black carbon concentration, schoolchildren's exposure and dose in Barcelona.

At city level, personal monitoring is the best way to assess people's exposure. However, it is usually estimated from a few monitoring stations. Our aim was to determine the exposure to black carbon (BC) and BC dose for 45 schoolchildren with portable microaethalometers and to evaluate the relationship between personal monitoring and fixed stations at schools (indoor and outdoor) and in an urban background (UB) site. Personal BC concentra-tions were 20% higher than in fixed stations at schools. Linear mixed-effect models showed low R(2) between personal measurements and fixed stations at schools (R(2)  ≤ 0.28), increasing to R(2)  ≥ 0.70 if considering only periods when children were at schools. For the UB station, the respective R(2) were 0.18 and 0.45, indicating the importance of the distance to the monitoring station when assessing exposure. During the warm season, the fixed stations agreed better with personal measurements than during the cold one. Children spent 6% of their time on commuting but received 20% of their daily BC dose, due to co-occurrence with road traffic rush hours and the close proximity to the source. Children received 37% of their daily-integrated BC dose at school. Indoor environments (classroom and home) were responsible for the 56% BC dose.

[Incontinentia pigmenti. Four patients with different clinical manifestations]. / Incontinencia pigmenti. Cuatro pacientes con diferentes manifestaciones clínicas.

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling.

[Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation]. / Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable.

INTRODUCTION: A mesomelic dysplasia with shortened limbs was first described by Leri and Weill in 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients. PATIENTS AND METHODS: One of the observations is familial and the other is an isolated case. The diagnosis in both cases was clinical, supported by radiology and a molecular study of the SHOX gene using multiplex ligation-dependent probe amplification (MLPA). CONCLUSIONS: Knowledge of this condition has therapeutic implications, given the favourable progress with growth hormone treatment, as well as possible surgical procedures and genetic counselling, due to its autosomal dominant hereditary character.

[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.

Medullary thyroid carcinoma mimicking an autonomous functioning nodule.

A 42-year-old woman with a medullary thyroid carcinoma (MTC) inside of an autonomously functioning thyroid nodule is reported. The patient was initially diagnosed of a hyperfunctioning autonomous thyroid adenoma but the histopathological and immunohistochemistry study were diagnostic for a MTC. This is the first case of a medullary thyroid carcinoma associated with thyroid hyperfunction which was presented as a hot nodule in the scintigraphy. We propose a systematic performance of a fine needle biopsy in all thyroid nodules because of the possibility of carcinoma associated to functioning nodules could be present.