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Rentabilidad diagnóstica de la ecografía renal tras la primera infección de orina en los lactantes.

  • Faura Morros A
  • Cuaresma González A
  • Hernández-Bou S
  • Trenchs-Sainz de la Maza V
  • Camacho Díaz JA
  • Luaces-Cubells C
Several authors question the performance of systematic renal ultrasound after first urinary tract infection (UTI) in young children, given the high sensitivity of prenatal ultrasounds to detect major malformations and the low prevalence of clinical relevant findings. The aims of this study are to evaluate the yield of renal ultrasound performed after the first UTI in patients aged less than 2 years and to analyse potential risk factors (RF) of altered renal ultrasound.

Acompañamiento y seguimiento de los niños con enfermedades neurologicas graves. Atencion por parte de un equipo de cuidados paliativos pediatricos especializado.

  • Porras-Cantarero JA
  • Gutierrez-Rada C
  • Palomares-Mora N
  • Navarro-Marchena L
  • Navarro-Vilarrubi S
Paediatric palliative care is that given to children suffering from a disease that limits or threatens their life. It therefore covers a wide range of pathologies and clinical situations, among which neurological pathology occupies an especially prevalent and complex position that requires suitably coordinated, structured and multidisciplinary care. The aim of this article is to describe the specificities presented by patients with neurological diseases out of all the children who could benefit from palliative care, as well as the characteristics of the Paediatric Palliative Care Unit of the Sant Joan de Deu University Hospital and the model of specialised care it offers.

Trastornos del movimiento.

  • Fernández-Alvarez E
Thanks to the application of modern techniques such as next-generation sequencing in the study of apparently non-inherited encephalopathies it has become possible to describe de novo pathogenic mutations in unsuspected genes and to define the phenotypes of these mutations. Interestingly, in most cases, their clinical signs and symptoms show a spectrum in which epileptic encephalopathy, neurodevelopmental disorder and hyperkinetic abnormal movement disorders overlap. Their pathophysiology is located in synapses (synaptopathies). This article offers a brief summary of these disorders and also includes a simple note, in honour of Dr Natalio Fejerman (1934-2018), on the so-called «benign polymorphic disorder of infancy».

Sindromes epilepticos de inicio neonatal. Etiologias y proceso diagnostico.

  • Fons-Estupina C
Neonatal convulsions are the most frequent form of expression of neurological pathology in the neonatal period. They represent a neurological emergency and thus require urgent diagnosis and treatment, as they are associated with a high risk of neonatal mortality or adverse neurological prognosis. Most neonatal convulsions are symptomatic and secondary to an identifiable causation. The causes vary widely. In this review we describe the electroclinical and aetiological aspects, and we also analyse the process of diagnosing the main epileptic syndromes in newborn infants. The importance of their diagnosis is due to the fact that some disorders are amenable to specific treatments, as in the case of some channelopathies or inborn errors of metabolism that are sensitive to vitamins. Early diagnosis and treatment are therefore essential to prevent a catastrophic outcome.

Nuevos conocimientos sobre errores congenitos del metabolismo estan dando lugar a nuevos paradigmas en neuropediatria.

  • Garcia-Cazorla A
  • Saudubray JM
In the last recent years, the -omics era has already transformed child neurology. Next generation sequencing (NGS) has identified many novel disease causing genes and phenotypes. While genetics is of great importance as a diagnostic tool, it is less helpful when it comes to a comprehensive understanding of mechanisms of brain dysfunction. Child neurologists are at high risk of being lost in genomics if they do not face the necessity of a new approach in their clinical practice. The large amount of data provided by NGS is just one more element in a complex puzzle. Different levels of complexity should be integrated in the much-needed novel child neurology paradigm. Classically, the descriptions of neurological diseases have relied on neuroanatomy and neurophysiology. However, metabolism, which strongly orchestrates the regulation of neuronal functions, has been mostly neglected in the study of brain disorders. Paradoxically, inborn errors of metabolism (IEM) have moved in the opposite direction. With more than 1100 IEM, almost 80% of which exhibit neurological symptoms, they have evolved from being initially considered as mere anecdotes to be a fundamental requisite in neuropediatric educational programs. Additionally, new complex molecule defects are leading to integrate classic metabolism and cell biology into the specific compartmentalized structure of the nervous system («cellular neurometabolism»). This article is a brief summary of the updated IEM classification combined with major neurological presentations in a tentative towards a pathophysiology based clinical practice in child neurology. In particular we emphasize a clinical approach focused in a continuum/spectrum of symptoms.

Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.

  • Martinez N
  • Roca N
  • Monistrol-Mula A
  • García-Giralt N
  • Díez-Pérez A
  • Nogués X
  • Mellibovsky L
  • Grinberg-Vaisman DR
  • Balcells S
Numerous GWAS and candidate gene studies have highlighted the role of the Wnt pathway in bone biology. Our objective has been to study in detail the allelic architecture of three Wnt pathway genes: WNT16, DKK1 and SOST, in the context of osteoporosis. We have resequenced the coding and some regulatory regions of these three genes in two groups with extreme bone mineral density (BMD) (n = ~50, each) from the BARCOS cohort. No interesting novel variants were identified. Thirteen predicted functional variants have been genotyped in the full cohort (n = 1490), and for ten of them (with MAF 0.01), the association with BMD has been studied. We have found six variants nominally associated with BMD, of which 2 WNT16 variants predicted to be eQTLs for FAM3C (rs55710688, in the Kozak sequence and rs142005327, within a putative enhancer) withstood multiple-testing correction. In addition, two rare variants in functional regions (rs190011371 in WNT16b 3'UTR and rs570754792 in the SOST TATA box) were found only present in three women each, all with BMD below the mean of the cohort. Our results reinforce the higher importance of regulatory versus coding variants in these Wnt pathway genes and open new ways for functional studies of the relevant variants.

The association of depression and all-cause and cause-specific mortality: an umbrella review of systematic reviews and meta-analyses.

  • Machado MO
  • Veronese N
  • Sanches M
  • Stubbs B
  • Koyanagi A
  • Thompson T
  • Tzoulaki I
  • Solmi M
  • Vancampfort D
  • Schuch FB
  • Maes M
  • Fava GA
  • Ioannidis JPA
  • Carvalho AF
Depression is a prevalent and disabling mental disorder that frequently co-occurs with a wide range of chronic conditions. Evidence has suggested that depression could be associated with excess all-cause mortality across different settings and populations, although the causality of these associations remains unclear.

Dehydroepiandrosterone and Dehydroepiandrosterone-Sulfate and Emotional Processing.

  • do Vale S
  • Escera C
Steroid hormones are important regulators of brain development, physiological function, and behavior. Among them, dehydroepiandrosterone (DHEA) and dehydroepiandrosterone-sulfate (DHEAS) also do modulate emotional processing and may have mood enhancement effects. This chapter reviews the studies that bear relation to DHEA and DHEAS [DHEA(S)] and brain emotional processing and behavior. A brief introduction to the mechanisms of action and variations of DHEA(S) levels throughout life has also been forward in this chapter. Higher DHEA(S) levels may reduce activity in brain regions involved in the generation of negative emotions and modulate activity in regions involved in regulatory processes. At the electrophysiological level, higher DHEA-to-cortisol and DHEAS-to-DHEA ratios were related to shorter P300 latencies and shorter P300 amplitudes during the processing of negative stimuli, suggesting less interference of negative stimuli with the task and less processing of the negative information, which in turn may suggest a protective mechanism against negative information overload. Present knowledge indicates that DHEA(S) may play a role in cortical development and plasticity, protecting against negative affect and depression, and at the same time enhancing attention and overall working memory, possibly at the cost of a reduction in emotional processing, emotional memory, and social understanding.

Inhibitor selectivity of CNTs and ENTs.

  • Vaskó B
  • Juhász V
  • Tóth B
  • Kurunczi A
  • Fekete Z
  • Zolnerciks JK
  • Kis E
  • Magnan R
  • Bidon-Chanal Badia A
  • Pastor-Anglada M
  • Hazai E
  • Bikadi Z
  • Fülöp F
  • Krajcsi P
The concentrative nucleoside transporters (CNT; solute carrier family 28 (SLC28)) and the equilibrative nucleoside transporters (ENT; solute carrier family 29 (SLC29)) are important therapeutic targets but may also mediate toxicity or adverse events. To explore the relative role of the base and the monosaccharide moiety in inhibitor selectivity we selected compounds that either harbor an arabinose moiety or a cytosine moiety, as these groups had several commercially available drug members. The screening data showed that more compounds harboring a cytosine moiety displayed potent interactions with the CNTs than compounds harboring the arabinose moiety. In contrast, ENTs showed a preference for compounds with an arabinose moiety. The correlation between CNT1 and CNT3 was good as five of six compounds displayed IC 50 values within the threefold threshold and one displayed a borderline 4-fold difference. For CNT1 and CNT2 as well as for CNT2 and CNT3 only two of six IC 50 values correlated and one displayed a borderline 4-fold difference. Interestingly, of the six compounds that potently interacted with both ENT1 and ENT2 only nelarabine displayed selectivity. Our data show differences between inhibitor selectivities of CNTs and ENTs as well as differences within the CNT family members.

The burden of disease in Spain: Results from the Global Burden of Disease 2016.

  • Soriano JB
  • Rojas-Rueda D
  • Alonso J
  • Antó JM
  • Cardona PJ
  • Fernández E
  • Garcia-Basteiro AL
  • Benavides FG
  • Glenn SD
  • Krish V
  • Lazarus JV
  • Martínez-Raga J
  • Masana MF
  • Nieuwenhuijsen MJ
  • Ortiz A
  • Sánchez-Niño MD
  • Serrano-Blanco A
  • Tortajada-Girbés M
  • Tyrovolas S
  • Haro JM
  • Naghavi M
  • Murray CJL
  • Colaboradores de GBD en España
  • Lista de colaboradores de GBD en Espana
The global burden of disease (GBD) project measures the health of populations worldwide on an annual basis, and results are available by country. We used the estimates of the GBD to summarise the state of health in Spain in 2016 and report trends in mortality and morbidity from 1990 to 2016.

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