Scavenging of polystyrene microplastics by sediment particles in both turbulent and calm aquatic environments.

Microplastic particles (MP) are emerging pollutants ubiquitously distributed in all aquatic environments, remaining in suspension in the water column or deposited in sediment beds. MP are suspended in the water column along with other particles with whom they might interact. The current study presents the results of slow-settling MP (Polystyrene) scavenged by fast-settling sediment particles. The study covers a wide range of salinities (from freshwater to saltwater) and shear rates (from calm to mixing ecosystems). In calm regions, the scavenging by fast-settling sediment particles produces the greatest removal of MP from the water column (42 % of MP in suspension), thus increasing the MP pollution of sediment beds. In contrast, turbulence reduces the settling of MP and sediment particles (72 % of MP remain in suspension), causing more pollution than in calm regions. Although salinity increased the buoyancy of MP, the scavenging by sediment has been found to overcome the increase in buoyancy. Consequently, MP are transported to the sediment bed independently on the salinity. Therefore hotspots of MP contamination in aquatic environments need to consider both the MP and sediment interaction and the local mixing of the water column.

Development and validation of the Barriers to Physical Activity and Sport Questionnaire for lesbian, gay, bisexual, transgender and queer/questioning persons.

OBJECTIVE: The objective of the study was to develop the Barriers to Physical Activity and Sport Questionnaire for lesbian, gay, bisexual, transgender and queer/questioning (BPASQ-LGBTQ+ [encompassing all spectrums of sexuality and gender]) persons (LGBT), which measures barriers using a socio-ecological model, and to validate it through exploratory and confirmatory factor analysis. STUDY DESIGN: Validation study. METHODS: First, content validity was achieved by (a) developing a bank of items, (b) discussing the adequacy of the items in a committee of experts and classifying the selected ones under three socio-ecological levels (intrapersonal, interpersonal, environmental) and (c) refining wording and relevance of the items after a pilot test. Second, 709 LGBTQ+ persons completed the questionnaire online to establish construct validity, criterion validity and internal consistency. RESULTS: Exploratory factor analysis revealed four underlying factors in the BPASQ-LGBTQ+, thus suggesting that the items initially considered as 'environmental barriers' could be constituting two separate factors based on social interactions or organizational aspects. Competing three- and four-factor models were tested using confirmatory factor analysis. The four-factor structure with two different factors accounting for environmental barriers obtained better values in all fit indices. Cronbach's alpha ranged from 0.745 to 0.813. Participants engaging in regular physical activity and sports reported lower scores in all the barriers subscales than their counterparts. CONCLUSION: The BPASQ-LGBTQ+ is valid and reliable to measure barriers to physical activity and sports in LGBTQ+ people across the different socio-ecological levels. It could be especially useful for understanding the complex relationships between these barriers, which is of great relevance for the design and implementation of interventions addressed to encourage physically active lifestyles among LGBTQ+ people.

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by homozygous deletions or loss-of-function mutations in SMN1, which result in a degeneration of motor neurons in the spinal cord and brain stem. Even without a randomized placebo-controlled trial, salbutamol has been offered to patients with SMA in the neuromuscular clinics of most of hospitals for many years. We describe the response to salbutamol in 48 patients with SMA type II who were not taking any other medication. We investigate the changes over an eighteen-month period in motor functional scales and we analyze side effects and subjective response to treatment. Our results suggest that oral administration of salbutamol might be helpful in the maintenance of motor function in patients with SMA type II. An apparent beneficial effect was observed in functional scales of children under the age of 6, especially during the first 6 months of therapy. The majority of patients of all ages referred some kind of subjective positive effect associated with therapy intake. Salbutamol seemed safe and was well tolerated without serious side effects.

Physical activity of university students with disabilities: accomplishment of recommendations and differences by age, sex, disability and weight status.

OBJECTIVES: This article aims to study physical activity and the achievement of World Health Organization physical activity recommendations in university students with disabilities, and to examine differences by sex, age, disability characteristics and weight status. STUDY DESIGN: Cross-sectional data from a wider research project conducted at the Spanish universities from Autumn 2016 to Autumn 2017 were analysed. METHODS: The International Physical Activity Questionnaire-Short Form was administered to 1103 Spanish university students with different disabilities. Nonparametric tests were performed to examine the differences in physical activity based on the interest variables. RESULTS: The mean metabolic equivalent (MET)-minutes/week was 1772.75 (±2161.00) for total physical activity, 642.93 (±1303.08) for vigorous physical activity, 344.31 (±699.53) for moderate physical activity and 785.50 (±1053.31) for walking intensity physical activity. Overall, 72.2% of the participants did not meet the recommendation of 75 min/week of vigorous physical activity, 80.3% did not meet the recommendation of 150 min/week of moderate physical activity and 63.1% did not meet any of these recommendations. Nonparametric tests revealed that students with multiple disabilities, chronic illnesses, acquired disabilities, older students, obese students and women were less active than their counterparts. CONCLUSIONS: A high number of participants did not meet the World Health Organization physical activity recommendations, and some subgroups were especially inactive. Public health policies should implement interventions to encourage people with disabilities to engage in physical activity, paying extra attention to the most inactive subgroups.

Propiedades psicométricas de un cuestionario de Teoría de la Conducta Planeada en la actividad física en alumnado universitario con discapacidad / Psychometric properties of a Theory of Planned Behaviour questionnaire in physical activity in university students with disabilities / Propriedades psicométricas de um questionário de Teoria do Comportamento Planejado em atividade física em estudantes universitários com deficiência

El presente trabajo evalúa las propiedades psicométricas de un cuestionario de Teoría de la Conducta Planeada en la actividad física en una muestra de alumnado universitario con discapacidad. El cuestionario fue administrado a 772 universitarios españoles con discapacidad. La estructura factorial se validó mediante análisis factorial confirmatorio, y para valorar la validez de criterio se llevaron a cabo correlaciones de Spearman entre los constructos de la Teoría de la Conducta Planeada y el tiempo dedicado a la actividad física. La fiabilidad se evaluó mediante el coeficiente alfa de Cronbach. Se evaluaron dos modelos, uno de cuatro factores y uno de cinco factores. El modelo de cinco factores fue el que mejores resultados presentó (CFI=,97; RMSEA=,057; IC 90%=,049-,066) (α=0,870). También se encontraron relaciones positivas entre todos los constructos de la Teoría de la Conducta Planeada y el tiempo dedicado a la actividad física. Los resultados muestran que el instrumento desarrollado resulta válido y fiable y sugieren que "Autoeficacia" y "Controlabilidad" deben considerarse dos factores independientes dentro del modelo. En conclusión, el cuestionario que se ofrece puede ser una herramienta útil para avanzar en el estudio de los factores psicosociales que afectan a la práctica de actividad física de las personas con discapacidad

The aim of this study was to assess the psychometric properties of a Theory of Planned Behaviour questionnaire in physical activity in university students with disabilities. The questionnaire was administered to 772 Spanish university students with disabilities. The factorial structure was validated by confirmatory factor analysis and Spearman correlations between the Theory of Planned Behaviour constructs and time devoted to physical activity were calculated to assess criterion validity. Reliability was assessed using Cronbach's alpha coefficient. Two models were assessed, one with four factors and other one with five factors. The model with five factors obtained better results (CFI=,97; RMSEA=,057; IC 90%:,049-,066) (α=0,870). Positive relations between all the constructs of Theory of Planned Behaviour and the time devoted to physical activity were also found. The results show that the instrument developed is valid and reliable and they suggest that "Self-efficacy" and "Controllability" should be considered as two independent factors of the model. In conclusion, the questionnaire could be a useful tool in order to gain knowledge about the psychosocial factors that affect physical activity participation of people with disabilities

O presente trabalho avalia as propriedades psicométricas de um questionário de Teoria do Comportamento Planejado na atividade física em uma amostra de estudantes universitários com deficiência. O questionário foi administrado a 772 estudantes universitários espanhóis com deficiência. A estrutura fatorial foi validada pela análise fatorial de confirmação e para avaliar a validade do critério, as correlações de Spearman foram realizadas entre as construções da Teoria do Comportamento Planejado e o tempo dedicado à atividade física. A confiabilidade foi avaliada usando o coeficiente alfa de Cronbach. Foram avaliados dois modelos, um dos quatro fatores e um dos cinco fatores. O modelo de cinco fatores mostrou os melhores resultados (CFI = 97, RMSEA = 057, IC 90% = 049-, 066) (α = 0,870). Relações positivas também foram encontradas entre todas as construções da Teoria do Comportamento Planejado e o tempo dedicado à atividade física. Os resultados mostram que o instrumento desenvolvido é válido e confiável e sugere que "Auto-eficácia" e "Controlabilidade" sejam considerados dois fatores independentes dentro do modelo. Em conclusão, o questionário oferecido pode ser uma ferramenta útil para avançar no estudo de fatores psicossociais que afetam a atividade física de pessoas com deficiência

Probing plasma fluorinated graphene via spectromicroscopy.

Plasma fluorination of graphene is studied using a combination of spectroscopy and microscopy techniques, giving insight into the yield and fluorination mechanism for functionalization of supported graphene with both CF4 and SF6 gas precursors. Ion acceleration during fluorination is used to probe the effect on grafting functionalities. Adatom clustering, which occurs with CF4 plasma treatment, is suppressed when higher kinetic energy is supplied to the ions. During SF6 plasma functionalization, the sulfur atoms tend to bond to bare copper areas instead of affecting the graphene chemistry, except when the kinetic energy of the ions is restricted. Using scanning photoelectron microscopy, with a 100 nm spatial resolution, the chemical bonding environment is evaluated in the fluorinated carbon network at selected regions and the functionalization homogeneity is controlled in individual graphene flakes.

Molecular characterization of congenital myasthenic syndromes in Spain.

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far. These data provide an overview on the relative frequencies of the different CMS subtypes in a large Spanish population. CHRNE mutations are the most common cause of CMS in Spain, accounting for 27% of the total. The second most common are RAPSN mutations. We found a higher rate of GFPT1 mutations in comparison with other populations. Remarkably, several founder mutations made a large contribution to CMS in Spain: RAPSN c.264C > A (p.Asn88Lys), CHRNE c.130insG (Glu44Glyfs*3), CHRNE c.1353insG (p.Asn542Gluf*4), DOK7 c.1124_1127dup (p.Ala378Serfs*30), and particularly frequent in Spain in comparison with other populations, COLQ c.1289A > C (p.Tyr430Ser). Furthermore, we describe phenotypes and distinguishing clinical signs associated with the various CMS genes which might help to identify specific CMS subtypes to guide diagnosis and management.

Large area growth of vertically aligned luminescent MoS2 nanosheets.

Vertically aligned MoS2 nanosheets (NSs) with exposed edges were successfully synthesized over a large area (∼2 cm2). The NSs were grown using an ambient pressure chemical vapor deposition technique via rapid sulfurization of sputter deposited thick molybdenum films. Extensive characterization of the grown MoS2 NSs has been carried out using high resolution scanning and transmission electron microscopy (SEM & TEM). A special care was given to the TEM lamella preparation process by means of a focused ion beam to preserve the NS growth direction. The cross-section TEM measurements revealed the growth of densely packed, vertically aligned and straight MoS2 NSs. Additional characterization techniques such as atomic force microscopy, X-ray photoelectron spectroscopy, Raman spectroscopy, and photoluminescence (PL) were used to evaluate the MoS2 NSs. These studies revealed the high crystallinity and quality of the synthesized NSs. The MoS2 NSs show visible light emission similar to mechanically exfoliated monolayer MoS2 NSs. The striking PL signal comes from the exposed edges as shown by experimental and theoretical calculations. The vertical MoS2 NSs also exhibit a hydrophobic character with a contact angle of 114°. The as-grown MoS2 NSs would be highly useful in the development of catalysis, nano-optoelectronics, gas-sensing and bio-sensing device applications.

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders. Mutations in CHRNE are one of the most common cause of them and the ɛ1267delG frameshifting mutation is described to be present on at least one allele of 60% of patients with CHRNE mutations. We present a comprehensive description of the heterogeneous clinical features of the CMS caused by the homozygous 1267delG mutation in the AChR Ɛ subunit in nine members of two large Gipsy kindreds. Our observations indicate that founder Roma mutation 1267delG leads to a phenotype further characterized by ophthalmoplegia, bilateral ptosis, and good response to pyridostigmine and 3,4-DAP; but also by facial weakness, bulbar symptoms, neck muscle weakness, and proximal limb weakness that sometimes entails the loss of ambulation. Interestingly, we found in our series a remarkable proportion of patients with a progressive or fluctuating course of the disease. This finding is in some contrast with previous idea that considered this form of CMS as benign, non progressive, and with a low impact on the capacity of ambulation.

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features. Neuromuscular transmission defects have recently been reported in several patients with congenital myopathies (CM). Mutations in KLHL40 are among the most common causes of severe forms of nemaline myopathy. Clinical features of affected individuals include fetal akinesia or hypokinesia, respiratory failure, and swallowing difficulties at birth. Muscle weakness is usually severe and nearly half of the individuals have no spontaneous antigravity movement. The average age of death has been reported to be 5 months in a recent case series. Herein we present a case of a patient with a nemaline myopathy due to KLHL40 mutations (c.604delG, p.Ala202Argfs*56 and c.1513G>C, p.Ala505Pro) with an impressive and prolonged beneficial response to treatment with high-dose pyridostigmine. Myasthenic features or response to ACEI have not previously been reported as a characteristic of nemaline myopathy or KLHL40-related myopathy.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.

Rapsyn (RAPSN) mutations are a common cause of postsynaptic congenital myasthenic syndromes. We present a comprehensive description of the clinical and molecular findings of ten patients with CMS due to mutations in RAPSN, mostly with a long-term follow-up. Two patients were homozygous and eight were heterozygous for the common p.Asn88Lys mutation. In three of the heterozygous patients we have identified three novel mutations (c.869T > C; p.Leu290Pro, c.1185delG; p.Thr396Profs*12, and c.358delC; p.Gln120Serfs*8). In our cohort, the RAPSN mutations lead to a relatively homogeneous phenotype, characterized by fluctuating ptosis, occasional bulbar symptoms, neck muscle weakness, and mild proximal muscle weakness with exacerbations precipitated by minor infections. Interestingly, episodic exacerbations continue to occur during adulthood. These were characterized by proximal limb girdle weakness and ptosis, and not so much by respiratory insufficiency after age 6. All patients presented during neonatal period and responded to cholinergic agonists. In most of the affected patients, additional use of 3,4-diaminopyridine resulted in significant clinical benefit. The disease course is stable except for intermittent worsening.

Synthesis and characterization of MoS2 nanosheets.

Here, we report on the synthesis of MoS2 nanosheets using a simple two-step additive-free growth technique. The as-synthesized nanosheets were characterized to determine their structure and composition, as well as their optical properties. The MoS2 nanosheets were analyzed by scanning electron microscopy, transmission electron microscopy (TEM), including high-resolution scanning TEM imaging and energy-dispersive x-ray spectroscopy, x-ray photoelectron spectroscopy (XPS), Raman spectroscopy and photoluminescence (PL). The as-produced MoS2 nanosheets are vertically aligned with curved edges and are densely populated. The TEM measurements confirmed that the nanosheets have the 2H-MoS2 crystal structure in agreement with the Raman results. The XPS results revealed the presence of high purity MoS2. Moreover, a prominent PL similar to mechanically exfoliated few and mono-layer MoS2 was observed for the as-grown nanosheets. For the thin (≤50 nm) nanosheets, the PL feature was observed at the same energy as that for a direct band-gap monolayer MoS2 (1.83 eV). Thus, the as-produced high-quality, large-area, MoS2 nanosheets could be potentially useful for various optoelectronic and catalysis applications.

Enfermedad neuromuscular: evaluación clínica y seguimiento desde el punto de vista neumológico / Neuromuscular disease: Respiratory clinical assessment and follow-up

Los pacientes con enfermedad neuromuscular constituyen un grupo de riesgo importante para sufrir con frecuencia situaciones de fracaso respiratorio agudo o crónico. Desde que nacen o son diagnosticados requieren un seguimiento por parte del neumopediatra para diagnosticar y tratar las complicaciones respiratorias, que son su principal causa de fallecimiento, dentro de un contexto multidisciplinar. El soporte ventilatorio y la asistencia a la tos han mejorado la calidad de vida y el pronóstico a largo plazo de muchos de estos pacientes. En este artículo los autores repasan la fisiopatología, evaluación de la función respiratoria, trastornos del sueño y complicaciones respiratorias más frecuentes en las enfermedades neuromusculares. En un próximo artículo se analizarán los diversos tratamientos utilizados desde el punto de vista neumológico

Patients with neuromuscular disease are an important group at risk of frequently suffering acute or chronic respiratory failure, which is their main cause of death. They require follow-up by a pediatric respiratory medicine specialist from birth or diagnosis in order to confirm the diagnosis and treat any respiratory complications within a multidisciplinary context. The ventilatory support and the cough assistance have improved the quality of life and long-term survival for many of these patients. In this paper, the authors review the pathophysiology, respiratory function evaluation, sleep disorders, and the most frequent respiratory complications in neuromuscular diseases. The various treatments used, from a respiratory medicine point of view, will be analyzed in a next paper

[Neuromuscular disease: respiratory clinical assessment and follow-up]. / Enfermedad neuromuscular: evaluación clínica y seguimiento desde el punto de vista neumológico.

Patients with neuromuscular disease are an important group at risk of frequently suffering acute or chronic respiratory failure, which is their main cause of death. They require follow-up by a pediatric respiratory medicine specialist from birth or diagnosis in order to confirm the diagnosis and treat any respiratory complications within a multidisciplinary context. The ventilatory support and the cough assistance have improved the quality of life and long-term survival for many of these patients. In this paper, the authors review the pathophysiology, respiratory function evaluation, sleep disorders, and the most frequent respiratory complications in neuromuscular diseases. The various treatments used, from a respiratory medicine point of view, will be analyzed in a next paper.

Fracturas en la atrofia muscular espinal / Fractures in spinal muscular atrophy

Objetivo. Determinar la frecuencia de fracturas en pacientes con atrofia muscular espinal, mecanismo de producción, edad de aparición y repercusión funcional. Pacientes y métodos. Se estudian 65 pacientes con atrofia muscular espinal. Se recogen las fracturas diagnosticadas mediante radiografía y se analizan los siguientes parámetros: tipo de atrofia muscular espinal, marcha, edad en el momento de la fractura, mecanismo de producción, localización, tratamiento aplicado y repercusión funcional. Resultados. Presentaron fracturas 13 pacientes (20%), con un total de 20 (cuatro presentaron dos o más fracturas). La edad media fue de 6,35 años. La localización fue en su mayoría en el fémur y el mecanismo de producción, en 12 casos por caídas y en 8 por traumatismo menor. No detectamos ninguna fractura vertebral. Todas se trataron de manera conservadora. El único paciente ambulante que presentó una fractura dejó de caminar después de la inmovilización. Conclusiones. La existencia de fracturas en estos pacientes interfiere en su calidad de vida y en el nivel funcional. Es importante la prevención de las mismas en el manejo del paciente y vigilando la correcta postura en la silla de ruedas con sistemas de sujeción Deberían emprenderse más estudios sobre la pérdida de densidad mineral ósea en estos pacientes y su posible relación con las fracturas (AU)

Aim. To determine the frequency of fractures in patients with spinal muscular atrophy, their mechanism of production, age at appearance and functional repercussions. Patients and methods. Sixty-five patients with spinal muscular atrophy were studied. Cases of fractures diagnosed by means of X-rays were collected and the following parameters were analysed: type of spinal muscular atrophy, gait, age at the time the fracture occurred, mechanism of production, location, treatment applied and functional repercussion. Results. Thirteen patients (20%) presented a total of 20 fractures (four of them presented two or more fractures). The mean age was 6.35 years. The fractures were mostly located in the femur and the mechanism of production was falls in 12 cases and minor traumatic injury in eight. No vertebral fractures were detected. All of them were treated conservatively. The only patient with a fracture who was able to walk stopped walking after immobilisation. Conclusions. The existence of fractures in these patients interferes with their quality of life and their level of functioning. It is important to prevent them from occurring during management of the patient and by ensuring a correct posture in the wheelchair with the use of restraint systems. Further studies are needed on the loss of bone mineral density in these patients and their possible relationship with fractures (AU)

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). Here we address the findings of a genetic study of 29 Gypsy Spanish families with autosomal recessive demyelinating CMT. The most frequent form is CMT4C (57.14%), followed by HMSN-Russe (25%) and HMSN-Lom (17.86%). The relevant frequency of HMSN-Russe has allowed us to investigate in depth the genetics and the associated clinical symptoms of this CMT form. HMSN-Russe probands share the same haplotype confirming that the HK1 g.9712G>C is a founder mutation, which arrived in Spain around the end of the 18th century. The clinical picture of HMSN-Russe is a progressive CMT disorder leading to severe weakness of the lower limbs and prominent distal sensory loss. Motor nerve conduction velocity was in the demyelinating or intermediate range.

Derrame pleural paraneumónico / Parapneumonic pleural effusion

La neumonía es la causa más frecuente de derrame pleural en niños. En los últimos años se han observado cambios epidemiológicos con un aumento de la prevalencia de complicaciones y de ingresos por derrame pleural, así como cambios en la etiología (gérmenes y serotipos), pudiendo estar relacionados con el uso más racional de antibióticos y los cambios en la estrategia vacuna. No hay evidencias en Pediatría para algunas de las recomendaciones sobre manejo del derrame pelural paraneumónico. Es por ello que realizamos esta revisión, basándose en las recomendaciones de la Sociedad Española de Neumología Pediátrica y la evidencia científica actual. El tratamiento deberá basarse en el empleo adecuado y precoz de antibioterapia endovenosa. El uso de técnicas complementarias, como la colocación de drenaje pleural (con o sin fibrinolíticos), la realización de toracoscopia y toracotomía, dependerá de la presencia de complicaciones y del estadio evolutivo del derrame (AU)

Pneumonia is the most frequent cause of pleural effusion in children. In recent years, changes in the epidemiological pattern have been observed, with an increase of complications and rate of admissions. Microbiological changes have been also described, such as types of bacteria and serotypes implicated, which can be related to different antibiotic policy and immunization schedule. No conclusive guidelines have been published for pediatric population regarding the management of parapneumonic pleural effusion. Therefore, we reviewed this topic based on Sociedad Española de Neumología Pediátrica (Spanish Society of Pediatric Pulmonology) recommendations and a review of the existing literature. Treatment should be based on early diagnosis and proper intravenous antibiotic use. Pleural effusion management includes different procedures such as pleural drainage (with or without fibirnolytics), thoracoscopy and thoracotomy, depending on the presence of complications and the evolutive stage (AU)

Inborn errors of metabolism and motor disturbances in children.

Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of normal development. However, abnormal movements can also be the hallmark of severe brain dysfunction of different and complex origins. This review concentrates on motor disturbances as frequent and important symptoms of inborn errors of metabolism. A structured diagnostic approach is developed taking into account age-dependent physiological developments and pathophysiological responses of gross and fine motor functions. A series of investigations are presented with the primary aim of early diagnosis of treatable conditions. The correct recognition and differentiation of movement disorders (ataxia, rigid akinetic syndrome (Fparkinsonism_), dystonia, athetosis, tremor,and others), spasticity, and neuromuscular disorders, requires profound neurological expertise. A high level of suspicion and close interaction between paediatric neurologists and specialists in inborn errors of metabolism are indispensable to effectively and timely identify patients in whom motor disturbances are the presenting and/or main symptom of an inborn error.

[Neonatal tumours and congenital malformations]. / Tumores neonatales y malformaciones congénitas.

INTRODUCTION: The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. OBJECTIVES: First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. MATERIALS AND METHOD: Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". RESULTS: 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data exist on the neonatal period and the majority are from medical institutions registers. The prevalence varies from 15 to 31.6%. To explain this association, the hypotheses are based on prenatal exposures (preconceptional and transplacental exposure), to mutagenic and carcinogenic risk factors. CONCLUSIONS: Neonatal tumours are more often associated to congenital abnormalities than other pediatric cancers. The inclusion and classification criteria needs to be unified to better understand the association between the neonatal tumours and congenital abnormalities. The environmental history in all neonatal tumours associated to congenital abnormalities, including the constitutional and environmental risk factors, will help to improve our knowledge of the underlying prenatal mechanisms and to an advance in its prevention.