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PURPOSE: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers. We aim to describe cerebral volumetric findings in a group of Spanish patients with neurotransmitter disorders. METHODS: Fifteen 3D T1-weighted brain images from the International Working Group on Neurotransmitter related Disorders Spanish cohort were assessed (eight with monoamine and seven with amino acid disorders). Volumes of cortical and subcortical brain structures were obtained for each patient and then compared with those of two healthy individuals matched by sex and age. RESULTS: Regardless of the underlying disease, patients showed a smaller total cerebral tissue volume, which was apparently associated with clinical severity. A characteristic volumetric deficit pattern, including the right Heschl gyrus and the bilateral occipital gyrus, was identified. In severe cases, a distinctive pattern comprised the middle and posterior portions of the right cingulate, the left superior motor area and the cerebellum. In succinate semialdehyde dehydrogenase deficiency, volumetric affection seems to worsen over life. CONCLUSION: Despite the heterogeneity and limited size of our cohort, we found novel and relevant data. Total volume deficit appears to be a marker of severity, regardless of the specific neurotransmitter disease and irrespective of the information obtained from conventional neuroimaging. Volumetric assessment of individual brain structures could provide a deeper knowledge about pathophysiology, disease severity and specific clinical traits.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most common mental disorders in childhood. The nuclear symptoms of ADHD are treated with stimulant medication such as methylphenidate; however, there's a lot of controversy regarding its side effects. AIMS: To analyse the activity patterns in children with ADHD during a period of 24 hours for seven days, before and after taking pharmacological treatment with stimulants (methylphenidate) and observe the differences between the different presentations of ADHD (inattentive and combined subtype). PATIENTS AND METHODS: A total of 30 children and adolescents (newly diagnosed with ADHD according to DSM-IV). Analyses were carried out through actigraphy, an instrument that allows us to monitor body movements by analysing movement patterns and differences between sleep and wakefulness. RESULTS: There were significant differences before and after treatment showing higher activity levels in patients with ADHD before treatment, and a decrease in this situation after taking pharmacological treatment. There are also differences between inattentive and combined subtype, showing the last group, higher activity levels. CONCLUSIONS: The level of activation presented by ADHD subjects is higher before taking stimulant treatment, influencing circadian patterns, sleep and quality of life. Pharmacological treatments help to decrease the level of activation.

Hydropower is a potential large source of electricity supply in Wales. The Upper River Severn in Mid Wales is a typical stream where a high head hydropower scheme could be developed and the river system at Plynlimon has some of the longest records for weather and flow in Wales. A micro-hydropower potential of 99 kW is demonstrated at Plynlimon and the potential impacts of climate change are simulated to assess the effects on flows and power outputs of such schemes under climate uncertainty. Based on UK Climate Projections 2009 (UKCP09) projections, the impacts of climate change are to significantly decrease both the stream flows and energy production during summer months but to increase flows and power production in the winter, with a net tendency to cancel out over the course of a full year. A methodology for assessing impacts of climate change on hydropower is established, which could be applied more widely to other potential hydropower sites such as lowland rivers or high base flow rivers in other parts of the UK. This will be useful for developers, water companies and environmental agencies to assess hydropower potential, economic viability and environmental impacts of micro-hydropower, under future climate change., Sí

The aim was to analyze the prevalence of latent tuberculosis infection and associated risk factors in healthcare personnel at the Hospital de Tortosa Verge de la Cinta (Tarragona, Spain). This was a cross-sectional study of 398 workers at this hospital who underwent tuberculin skin testing for latent tuberculosis infection (LTBI) between 2001 and 2012.We also analyzed the relationship between LTBI and age, sex, job and work area according to their risk of exposure to tuberculosis(high, low, uncertain). The total prevalence of LTBI in our sample was 11.1% (95%CI 8.3%-14.5%). LBTI was associated with age and work area. Multivariate analysis showed that the risk of LTBI increased by 6.4% per 1 year increase in age. The prevalence of LTBI in this population approximates that of the general population in Spain.El objetivo del trabajo ha sido evaluar la presencia de infección tuberculosa latente en el personal sanitario del Hospital de Tortosa Verge de la Cinta (HTVC). Para ello se analizaron las historias clínicas laborales de 398 trabajadores de dicho hospital a los que se había realizado la prueba de tuberculina durante el periodo 2001-2012. La presencia de infección tuberculosa latente (ITL) se analizó en relación a las variables edad, sexo, categoría profesional, personal de áreas de trabajo de alto y bajo riesgo de exposición a la tuberculosis y personal de riesgo no definido. La prevalencia total de ITL en el grupo estudiado fue del 11,1% (IC 95%: 8,3%-14,5%), estando dicha prevalencia asociada a la edad y al área de trabajo. El análisis multivariable mostró que el riesgo de sufrir ITL se incrementa un 6,4% por cada año de edad. La prevalencia de ITL en el centro de estudio era similar a la de la población profesionalmente no expuesta de España.

Annexin A2 (ANXA2) is present in vivo in the mid- and late-secretory endometria and is mainly localized in the luminal epithelium. Our aim was to evaluate its function in regulating the human implantation process. With an in vitro adhesion model, constructed to evaluate how the mouse embryo and JEG-3 spheroids attach to human endometrial epithelial cells, we demonstrated that ANXA2 inhibition significantly diminishes embryo adhesiveness. ANXA2 is also implicated in endometrial epithelial cell migration and trophoblast outgrowth. ANXA2 was seen to be linked to the RhoA/ROCK pathway and to regulate cell adhesion. We noted that ANXA2 inhibition significantly reduces active RhoA, although RhoA inactivation does not alter the ANXA2 levels. RhoA inactivation and ROCK inhibition also moderate embryo adhesiveness to endometrial epithelial cells. We corroborated that the induction of constitutively active RhoA partially reverses the effects of ANXA2 inhibition on endometrial adhesiveness. These molecules colocalize on the plasma membrane of endometrial epithelial cells, and a large proportion of ANXA2 and RhoA are colocalized in the F-actin networks. The functional effects of ANXA2 inhibition and RhoA/ROCK inactivation are associated with significant alterations in F-actin organization and its depolymerization. ANXA2 may act upstream of the RhoA/ROCK pathway by regulating F-actin remodeling and is a key factor in human endometrial adhesiveness.

Este artículo presenta la degradación observada en un generador de x-Si 7 kW de potencia tras 16 años de exposición en la terraza del Instituto de Energía Solar de la Universidad Politécnica de Madrid. La caída de la potencia pico ha sido del 9% durante dicho periodo o, lo que es equivalente, una degradación anual del 0,56%; mientras que la desviación típica se ha mantenido básicamente constante. Los principales defectos visuales observados han sido delaminaciones en la superficie PET/PVF de la cara posterior de los módulos y roturas en las cajas de conexión y en la unión entre marco y vidrio. Todos los módulos analizados han pasado con suficiencia las pruebas de aislamiento eléctrico dispuestas en la norma IEC 61215, tanto en seco como en mojado.

pH and chlorinity content of estuarine water and behavior in the concentration of some heavy metals characteristics of acid mine drainage in the suspended matter and dissolved phase have allowed the identification of two mixing process in the Odiel-Tinto rivers estuary: a salt-induced mixing typical of marine estuaries and an acid neutralization process as a result of the mixture of acid fluvial water coming from the drainage basins, which are affected by acid mine drainage (AMD). Thus, the estuary is divided into three zones: (1) zone with acid water and with precipitation of sulphate phases during the beginning of the process of neutralization in the absence of salt-induced mixing, (2) zone with pH values between 4.5 and 7 where a removal of heavy metals in their dissolved phase is produced by coexistence of both mixture processes, and (3) zone where water is slightly basic and the salt-induced mixing produces a redissolution of some elements. Spatial location and extent of these zones within the estuarine system have seasonal variations depending on the volume of fluvial discharge., Sí

Cardiotoxicity is a well recognized side effect of anthracyclines (doxorubicin and epirubicin) or antracenadiones (mitoxantrone) at cumulative or high doses. However the side effects have not been evaluated in adults with Hodgkin's disease who received therapeutic doses of these drugs. We analyzed the cardiac function studying the left ventricular ejection fraction (LVEF) at rest in 136 patients with Hodgkin's disease treated with doxorubicin, epirubicin or mitoxantrone used in combination with vinblastine, bleomycin and decarbazine. No other risk factors, such as radiation therapy to the mediastinum, were considered. The follow-up is 5 to 8 years for patients in complete remission. Forty-five patients received doxorubicin (from 325 to 685 mg/m2, median 475 mg/m2), 51 patients received epirubicin (from 310 to 610 mg/m2, median 510 mg/m2) and 40 patients were treated with mitoxantrone (from 70 to 165, median 125 mg/m2). The median time between the end of treatment and the evaluation was 6.7 years. Thirty seven percent of the patients (similar rates in the three groups) showed abnormalities in the LVEF with decreased rates independent of the drug dosage. These were compared with two control groups, 46 patients treated with the MOPP combination (mechlorethamine, vincristine, prednisone and procarbazine) or LOPP (chlorambucil, for mechlorethamine) and 35 healthy volunteers. We believe that the use of anthracyclines or antracenadione will produce late cardiac effects in a fraction of patients independently of the doses used and that the indications for these drugs be carefully monitoring so as to evaluate the development of late side effects.

Lipid rafts are membrane microdomains involved in cell signalling and characterized by their high contents of sphingolipids, cholesterol and saturated fatty acids. In this study, we have purified lipid rafts of human frontal brain cortex from normal and Alzheimer’s disease (AD) cell membranes and analyzed their lipid composition. Compared to non-AD brains, lipid rafts from AD brains displayed low levels of n-3 long chain highly unsaturated fatty acids (HUFA) specially 22:6n-3 (docosahexaenoic acid) and n-9 monoenes (specially 18:1n-9, oleic acid). Changes in lipid structure of AD lipid rafts also involved significant reductions in the unsaturation and peroxidability indexes as well as increased unsaturated/cholesterol unsaturated/sphingomyelin and saturates/n-3 HUFA ratios. These results indicate that the mechanisms preserving lipid raft order and viscosity in normal frontal cortex are disrupted in AD brains, which partially might explain the abnormal intracellular signalling mechanisms observed during AD. Versión de editor

In order to increase the clinical and scientific evidence of the Hyperoxygenated Fatty Acids (HFA) in emulsion preparation for skin care, this study considers to evaluate prospectively how it influences in the state of the periwound skin (when there are active lesions) or in which it presents a high risk of lesion production.

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Since description of the expansion of the number of CTG trinucleotides on the long arm of chromosome 19 in the 19 q 13.2-13.3 interval as being responsible for myotonic dystrophy (DM), many studies have established a direct relationship between the size of the expansion and the severity of the manifestations.To evaluate the clinico-genetic correlation in a population with DM in Eastern Andalucia and to establish the predictive value of the increase in number of CTG repetitions with regard to clinical gravity.A transverse study of persons from families known to have members with DM, classified with regard to the clinical gravity of their illness. Diagnosis was by means of clinical neurological, ophthalmological and neurophysiological examination and subsequently by genetico-molecular study, Southern blot, PCR, oligonucleotide CTC hybridization and Northern blot.Genetic studies confirmed the previous clinical diagnosis of DM in 78 persons, of the 145 studied, who came from 32 families. The average size of the mutation was 1-5 kb. There was close correlation between the size of the expansion and the clinical condition. Logistic repression studies permitted adequate classification in function of the size of the expansion in 87.23% of the cases of clinically relevant illness and in 90% of the cases in which the condition was not clinically relevant.There is a strong association between the clinical features of DM and the magnitude of the mutation. The size of the expansion has considerable predictive value in prognosis of the disorder. This may be useful when making decisions during prenatal diagnosis.

The Spanish PETHEMA group designed a protocol for newly diagnosed PML/RARalpha-positive acute promyelocytic leukemia (APL) in which induction and consolidation followed the original AIDA regimen, except for the omission of cytarabine and etoposide from consolidation. Induction consisted of 45 mg/m(2) all-trans retinoic acid (ATRA) daily until complete remission (CR) and 12 mg/m(2) idarubicin on days 2, 4, 6, and 8. Patients in CR received 3 monthly chemotherapy courses: idarubicin 5 mg/m(2)/d x 4 (course no. 1), mitoxantrone 10 mg/m(2)/d x 5 (course no. 2), and idarubicin 12 mg/m(2)/d x 1 (course no. 3). Maintenance therapy consisted of 90 mg/m(2)/d mercaptopurine orally, 15 mg/m(2)/wk methotrexate intramuscularly, and, intermittently, 45 mg/m(2)/d ATRA for 15 days every 3 months. Between November 1996 and December 1998, 123 patients with newly diagnosed PML/RARalpha-positive APL from 39 centers were enrolled. A total of 109 patients achieved CR (89%; 95% confidence interval [CI], 83 to 95), 12 died of early complications, and the remaining 2 were resistant. Consolidation treatment was associated with very low toxicity and no deaths in remission were recorded. Molecular assessment of response by reverse transcriptase-polymerase chain reaction (RT-PCR) showed conversion to PCR-negative in 48 of 99 (51%) and 82 of 88 patients (93%) after induction and consolidation, respectively. The 2-year Kaplan-Meier estimates of overall survival and event-free survival were 82% +/- 4% and 79% +/- 4%, respectively. For patients who achieved CR, the 2-year disease-free survival (DFS) was 92% +/- 3%. These data indicate that a significant reduction in toxicity might be obtained in APL using a less intensive consolidation without apparently compromising the antileukemic effect. These results also suggest a minor role for cytarabine and etoposide in the treatment of newly diagnosed PML/RARalpha-positive APL patients.

Un falso aneurisma es una complicación rara de una fractura de la diáfisis femoral. Se presenta un caso que fue diagnosticado tardíamente debido a la ausencia de sintomatología típica. Se discuten la etiología, profilaxis, diagnóstico y posibilidades terapéuticas; destacándose la novedad del diagnóstico y tratamiento mediante arteriografía y embolización selectiva. A false aneurysm following a closed femoral-shaft fracture is a rare complication. The author report a case that was lately diagnosed because of the absence of typical symptomatology. Aetiology, prophylaxis, diagnosis and treatment are discussed, emphasizing the new method of diagnosis and treatment by arteriography and selective embolism.

To review the main anatomical, histological, physiopathological and aetiological data characteristic of the mesial temporal sclerosis syndrome (ETM). Development. The typical histological findings in ETM are: 1) A specific pattern of loss of neurone density which includes so-called endfolium sclerosis (considered to be a specific pathological entity always found in ETM), and which is usually accompanied by neurone loss in other hippocampal and extra-hippocampal regions. The CA2 region is never affected. 2) Phenomenon of 'mossy fibers sprouting' which are granulosa cells which form two types of synapses: with the the 'basket cells' which are inhibitory interneurones and with the dendrites of granulosa or pyramidal cells of the CA1, CA2 and CA3 Ammon horn cells which are excitatory cells.Probably these organic changes are both the cause and effect of repeated convulsions. Participation in this self-perpetuating circuit may be due to recognised risk factors of ETM (head injury, CNS infections, febrile convulsions in early stages of development) which cause, first of all, death of neurones of the dentate gyrus cells followed by reduced inhibitory activity of the 'basket' cells and therefore sustained hyper-excitability of the pyramidal cells (especially in the CA3 regions), which are responsible for complex partial seizures and massive liberation of glutamic acid. Glutamic acid can cause death of neurones of the granulosa cells of the dentate gyrus, thus closing the circuit. This hypothesis explains the progressive nature of the ETM syndrome. When there is pathology of the cortical structure there is another access via to this circuit--by means of cortical discharges of the so-called perforant pathway which stimulates activity of the pyramidal cells and sets off the chain of events described above. This hypothesis explains the so-called 'dual pathology'.

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Most cases of temporal arteritis are of the giant cell variety, with cases involving other histologic patterns occurring rarely. There are only 4 descriptions in the literature of non giant cell temporal arteritis as a manifestation of Churg-Strauss syndrome. We report the case of a 74-year-old man with a history of bronchial asthma who presented with systemic symptoms and right temporal cephalea with diplopia, diffuse muscle pain and transient skin lesions on the extremities. The right temporal artery was enlarged and painful but pulsatile. Tests showed a high erythrocyte sedimentation rate and leukocytosis with relative and absolute eosinophilia. Biopsy of the temporal artery revealed polymorphic inflammatory infiltration throughout the vas, with numerous eosinophils and non giant cells, confirming a diagnosis of Churg-Strauss syndrome with extension to the temporal artery. Temporal arteritis should be considered a syndrome with variable substrate pathology; the possibility that it is a rare manifestation of systemic necrotizing vasculitis should not be ruled out.

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1. 1. Electrical parameters and transepithelial glucose and galactose transport were determined in vitro across anterior and posterior intestine of the culture fish Sparus aurata . 2. 2. Electrical potential difference (PD) and short-circuit current (Isc) were serosa-positive in anterior intestine, while they were serosa-negative or near zero in posterior intestine. 3. 3. Tissue conductance (Gt) was higher in posterior than in anterior intestine. In both parts it was decreased when the Na ion was omitted in mucosal and serosal reservoirs. 4. 4. Addition of glucose or galactose to the mucosal side of intestine caused an increase in PD and Isc in posterior intestine but did not significantly change PD and Isc in anterior intestine. 5. 5. Isotopic flux of glucose and galactose measurements in short-circuit conditions showed a net active glucose and galactose absorption in posterior intestine, while in anterior intestine active transport of glucose or galactose was not observed. 6. 6. The net transport of glucose and galactose in posterior intestine was decreased to zero in the absence of Na in mucosal and serosal reservoirs or in the presence of ouabain (1 mM) in serosal solution.

1. 1. The unidirectional transepithelial fluxes of l -phenylalanine across lizard duodenum were determined in flux chambers. 2. 2. Phenylalanine was preferentially transferred from the mucosal to the serosal fluid. 3. 3. This transport was accompanied by an accumulation of substrate from the mucosal medium into the tissue to a similar level and against a concentration gradient. 4. 4. There was no net movement of phenylalanine when the sodium was substituted by choline. 5. 5. The influx of l -phenylalanine into the epithalial cells of lizard duodenum was examined by incubating slices of intestine in radioactively-labelled solutions of the substrate for 2 min. 6. 6. The steady-state uptake was assessed after similar incubations lasting 45 min. 7. 7. Phenylalanine influx obeys the Michaelis-Menten equation with a Km of 5.1 and is dependent on the presence of sodium ions in the incubation medium. 8. 8. Phenylalanine has been used to induce changes in short-circuit current (ΔIsc) across intestine. ΔIsc was a hyperbolic function of amino acid concentration characterized by the parameters Jm (maximum change in ΔIsc and Km (concentration needed to attain an ΔIsc equal to half the Jm). 9. 9. ΔIsc determined Km constants showed good agreement with values obtained from direct measurements of phenylalanine uptake into tissue.

1. The effect of theophylline on ion transport was examined using an in vitro short-circuited preparation of lizard colon. 2. Theophylline increased short circuit current (Isc) and transmural potential difference (PD). This increase caused by theophylline was accompanied by a small increase in transmural conductance (Gt). 3. Theophylline did not inhibit the absorption of Na+ but reversed Cl- absorption to secretion. This latter effect was due to an increase of the serosal-to-mucosal flux of Cl-. 4. Ion substitution experiments revealed that the effect of theophylline was Na+- and HCO3(-)-dependent and that these ions were required in the bathing solution. 5. These results with lizard colon are compared with those reported for mammalian colon and the mechanism of theophylline-induced Cl- secretion in these epithelia is discussed.

1. 1. Electrical parameters and transepithelial Na+ and galactose transport were determined in vitro across isolated duodenum of Lacerta galloti lizard. 2. 2. Electrical potential difference (PD) and short-circuit current (Isc) were dependent on the presence of Na+ in the bathing solutions. 3. 3. PD and Isc were affected by addition of glactose to the mucosal solution. 4. 4. Isotopic flux of Na+ measurements across short-circuited duodenum showed a net active Na+ absorption. 5. 5. The net flux of Na+ (JnetNa+) accounted for the observed Isc Both (JnetNa+) and Isc were increased by the addition of galactose 5 mM to the mucosal solution. 6. 6. Isotopic flux galactose measurements in open-circuit conditions showed a net active galactose absorption. 7. 7. The net transport of galactose was decreased to zero in the absence of Na+ in mucosal and serosal reservoirs. 8. 8. Galactose has been used to induce changes in short-circuit current (ΔIsc) across intestine. ΔIsc was a hyperbolic function of galactose concentration characterized by the parameters Vmax (maximum change in ΔIsc) and Km, (concentration needed to attain a velocity equal to half the Vmax).

At the present time corpus callosotomy is a valuable option in the management of some patients with drug-resistant epilepsy who are not candidates for resective procedures. The records of six patients who underwent callosotomy at 'Hospital Virgen de las Nieves' (Granada, Spain) in the past four years were retrospectively analyzed. The patients all had intractable primary or secondarily generalized seizures, were severely handicapped by its frequency and nature (especially with drop attacks and multiple injuries) and were not suitable for other surgical procedure. The results of surgery (five anterior callosotomies and one subtotal section) are described after an average follow-up period of 2.5 years. Overall, four patients achieved significant improvement (at least 50% reduction in seizure frequency, severity, or both, affecting quality of life), with a marked reduction (75%) in two of them. There was no clinical deterioration, significant surgical complication nor relevant additional long-term neuro-psychological deficit in any case. Previous studies have been reviewed mainly to find those prognostic factors associated with a better seizure outcome or with the occurrence of complications. The best results are obtained in those patients with drop attacks (including atonic seizures) as the most frequent and disabling seizure type. According to the type of epilepsy, patients with localization-related epilepsy (especially when symptomatic of a focal brain damage) and those with the Lennox-Gastaut syndrome are the most likely to benefit from the procedure. It is suggested that, in the first place, a two-thirds anterior callosotomy should be performed particularly with atonic seizure are the most frequent seizure type. We may proceed with completion of callosal division as a second stage in those patients in whom a significant improvement has not been observed. In severely retarded patients with multiple seizure types, one-stage complete section may be performed. The procedure is relatively safe, with a low incidence of morbidity and clinically significant long-term neuro-psychological deficits. Further larger clinical studies are necessary to elucidate many aspects which are still unresolved. More uniformity would be desirable in the evaluation of patients, surgical technique, follow-up and presentation of results.