[Neonatal viral meningitis. The importance of the polymerase chain reaction in their diagnosis]. / Meningitis viricas neonatales. Importancia de la reaccion en cadena de la polimerasa en su diagnostico.

INTRODUCTION: The different types of viral meningitis constitute a condition that is relatively frequent in newborn infants, although in many cases they are underdiagnosed due to the absence of pleocytosis in the cerebrospinal fluid (CSF). AIMS: To describe the clinical features and laboratory findings of newborn infants with viral meningitis and to highlight the importance of the polymerase chain reaction (PCR) in the CSF to diagnose this condition. PATIENTS AND METHODS: A retrospective review of the medical records of newborn infants hospitalised in the neonatology section who had been diagnosed with viral meningitis between May 2014 and May 2017. RESULTS: Altogether 17 cases of viral meningitis were registered (15 caused by enterovirus and two due to parechovirus), which accounts for 14.8% of all newborns hospitalised owing to febrile symptoms. All of them had fever (100%), and other notable symptoms were irritability (76%) and rejection of feeding (65%). Normal cellularity was found in the CSF without high protein levels in 88% of them, and without hypoglycorrhachia in all of them (100%), which meant that many of these children had previously been left with a diagnosis of a febrile syndrome with no focus. These data stress the need to perform the PCR in the CSF of newborn infants who have a fever without a focus, due to the normal status of the results of the complementary tests in most cases. Subsequent neurological follow-up was performed in 64.7% of the children in the neurology service, without any neurological sequelae being found, except in one case. CONCLUSIONS: Multiple PCR in the CSF has become an essential diagnostic technique in cases of newborn infants with a suspected infection, and replaces viral culture as the reference test due its being quicker and more sensitive.

TITLE: Meningitis viricas neonatales. Importancia de la reaccion en cadena de la polimerasa en su diagnostico.Introduccion. Las meningitis viricas representan una entidad relativamente frecuente en los recien nacidos, aunque en muchos casos infradiagnosticadas, ante la ausencia de pleocitosis en el liquido cefalorraquideo (LCR). Objetivos. Describir las caracteristicas clinicas y los hallazgos de laboratorio de neonatos con meningitis viricas y destacar la importancia de la reaccion en cadena de la polimerasa (PCR) en el LCR para diagnosticar esta patologia. Pacientes y metodos. Revision retrospectiva de historias clinicas de neonatos ingresados en la seccion de neonatologia diagnosticados de meningitis virica entre mayo de 2014 y mayo de 2017. Resultados. Se registraron 17 casos de meningitis virica (15 causadas por enterovirus y dos por parechovirus), que constituyen el 14,8% de los neonatos ingresados por sindrome febril. Todos manifestaron fiebre (100%), y otros sintomas destacados fueron irritabilidad (76%) y rechazo de la ingesta (65%). El 88% curso con celularidad normal en el LCR y sin hiperproteinorraquia, y el 100%, sin hipoglucorraquia, por lo que previamente muchos de estos niños quedaban con el diagnostico de sindrome febril sin foco. Estos datos resaltan la necesidad de realizar la PCR en el LCR a neonatos con fiebre sin foco, debido a la normalidad de las pruebas complementarias en la mayoria de los casos. El 64,7% de los niños recibio seguimiento neurologico posterior en consulta de neurologia, sin objetivarse secuelas neurologicas, salvo en uno de ellos. Conclusiones. La PCR multiple en el LCR se ha convertido en una tecnica diagnostica imprescindible en el recien nacido con sospecha de infeccion y sustituye al cultivo viral como prueba de referencia por su mayor rapidez y sensibilidad.

A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20.

Congenital myasthenic syndromes are a group of genetically determined rare diseases resulting from ultrastructural alterations in synaptic proteins. Up to 32 genes are known to be involved in those syndromes and many mutations have been reported, of which less than 8% affect the presynaptic complex. One of these syndromes is caused by the impairment of the presynaptic sodium-dependent high-affinity choline transporter 1, as a result of a mutation of the SCL5A7 gene associated with congenital myasthenic syndrome type 20 (MIM # 617143). We present a new case of this syndrome, caused by a mutation not previously described. A full term infant presented with acute respiratory failure and generalized weakness. The genetic analysis revealed the patient to be compound heterozygous for a new mutation of the SCL5A7 gene. The genetic analysis of congenital myasthenic syndromes provide information on the ultrastructural underlying mechanisms, which is valuable for differential diagnosis and specific treatments.

[Value of electroencephalography in the early detection of neonatal leucinosis]. / Aportacion de la electroencefalografia en la deteccion temprana de leucinosis neonatal.

INTRODUCTION: Leucinosis is a severe neonatal metabolic disease. It is the consequence of the genetically determined enzyme deficiency of the complex formed by decarboxylase-dihydrolipoyl transacylase and dihydrolipoyl dehydrogenase, and of the subsequent accumulation of precursor metabolites, long branched-chain amino acids and their alpha ketoacids. They are powerful neurotoxins, responsible for the swift onset of oedema and diffuse cerebral demyelination. Delays in its diagnosis usually result in severe psychomotor sequelae or even death. CASE REPORT: We report the case of a newborn female patient with severe neonatal encephalopathy, epileptic seizures and an electroencephalogram (EEG) with certain special characteristics that guided the diagnosis towards that of possible leucinosis. Early diagnosis makes it possible to establish specific treatment and achieve a favourable patient outcome. CONCLUSIONS: An EEG in patients with suspected neonatal encephalopathy offers highly cost-effective functional information at a low cost, especially because it promotes early diagnoses and treatments. In cases of leucinosis, EEG presents peculiar signs that are easily recognisable in early periods in most patients, as occurred in the case reported here. We believe EEG should be included in screening for neonatal encephalopathies because it is a valuable, innocuous and generally accessible diagnostic technique. It is especially helpful in treatable metabolic diseases, such as leucinosis.

TITLE: Aportacion de la electroencefalografia en la deteccion temprana de leucinosis neonatal.Introduccion. La leucinosis es una metabolopatia neonatal grave. Es consecuencia del deficit enzimatico determinado geneticamente del complejo descarboxilasa-dihidrolipoil transacilasa y dihidrolipoil deshidrogenasa, y del acumulo consecuente de los metabolitos precursores, aminoacidos ramificados de cadena larga y sus alfa-cetoacidos. Son potentes neurotoxicos, responsables del rapido establecimiento de edema y desmielinizacion cerebral difusa. La demora en el diagnostico suele provocar graves secuelas psicomotoras o incluso la muerte. Caso clinico. Se presenta una paciente neonata con encefalopatia neonatal grave, crisis epilepticas y un electroencefalograma (EEG) con unas caracteristicas especiales que oriento el diagnostico hacia una posible leucinosis. El diagnostico temprano permitio instaurar rapidamente el tratamiento especifico y conseguir una evolucion favorable de la paciente. Conclusiones. El EEG en pacientes con sospecha de encefalopatia neonatal ofrece informacion funcional de alta rentabilidad con un bajo coste, en especial por promover diagnosticos y tratamientos tempranos. El EEG en la leucinosis presenta signos peculiares, reconocibles en periodos tempranos en la mayor parte de los afectados, como ocurrio en el caso descrito. Parece recomendable integrar el EEG en el cribado de encefalopatias neonatales por ser una tecnica diagnostica valiosa, inocua y, por lo general, accesible y especialmente de ayuda en metabolopatias tratables, como la leucinosis.

Quantitative volcanic susceptibility analysis of Lanzarote and Chinijo Islands based on kernel density estimation via a linear diffusion process.

Risk management stakeholders in high-populated volcanic islands should be provided with the latest high-quality volcanic information. We present here the first volcanic susceptibility map of Lanzarote and Chinijo Islands and their submarine flanks based on updated chronostratigraphical and volcano structural data, as well as on the geomorphological analysis of the bathymetric data of the submarine flanks. The role of the structural elements in the volcanic susceptibility analysis has been reviewed: vents have been considered since they indicate where previous eruptions took place; eruptive fissures provide information about the stress field as they are the superficial expression of the dyke conduit; eroded dykes have been discarded since they are single non-feeder dykes intruded in deep parts of Miocene-Pliocene volcanic edifices; main faults have been taken into account only in those cases where they could modified the superficial movement of magma. The application of kernel density estimation via a linear diffusion process for the volcanic susceptibility assessment has been applied successfully to Lanzarote and could be applied to other fissure volcanic fields worldwide since the results provide information about the probable area where an eruption could take place but also about the main direction of the probable volcanic fissures.

Spatial Frequency Components of Images Modulate Neuronal Activity in Monkey Amygdala.

Processing the spatial frequency components of an image is a crucial feature for visual perception, especially in recognition of faces. Here, we study the correlation between spatial frequency components of images of faces and neuronal activity in monkey amygdala while performing a visual recognition task. The frequency components of the images were analyzed using a fast Fourier transform for 40 spatial frequency ranges. We recorded 65 neurons showing statistically significant responses to at least one of the images used as a stimulus. A total of 37 of these neurons (n = 37) showed significant responses to at least three images, and in eight of them (8/37, 22%), we found a statistically significant correlation between neuron response and the modulus amplitude of at least one frequency range present in the images. Our results indicate that high spatial frequency and low spatial frequency components of images influence the activity of amygdala neurons.

Natural products: Perspectives in the pharmacological treatment of gastrointestinal anisakiasis.

OBJECTIVE: To evaluate the activity of different natural products against L3 larvae of Anisakis type I. METHODS: Information on investigations into the activity of natural products against the L3 larvae of Anisakis simplex was collected from scientific journals, books, theses and reports via a library and electronic search (using Pubmed, Scopus, Medline, Web of Science and ScienceDirect). The search terms included: natural products, medicinal plants, essential oils, terpenic derivatives, Anisakis, antinematodal activity. RESULTS: In the literature reviewed numerous papers were found concerning the in vitro and in vivo activity against Anisakis type I of various natural products (plant extracts, essential oils and their major components). Analysis of the results showed that in vitro tests the Melaleuca alternifolia essential oil and the ar-turmerone isolated from Curcuma longa displayed the greatest activity. In vivo, the most active compound was perillaldehyde, the main component of Perilla frutescens essential oil. CONCLUSIONS: This study shows that some natural products exhibited promising antianisakis properties.

Baseline defense system of commercial male king crab Lithodes santolla from the Beagle Channel.

Environmental and physiological variations influence the steady-state concentration of free oxygen radicals in cells. Because of the seasonal life cycle of Lithodes santolla in the Beagle Channel, a baseline study of the antioxidant physiological variations along the seasons is necessary for a better understanding of its ecophysiology. The aim of this study was to evaluate the seasonal variations in gills, hemolymph, muscle and hepatopancreas of the: i) enzymatic activities of superoxide dismutase, catalase, glutathione peroxidase and glutathione transferase; ii) ascorbic acid and total glutathione; iii) lipid peroxidation and protein oxidation; iv) glucose, proteins and pH. Seasonality found in the antioxidant defense system of L. santolla from the Beagle Channel acts in a collaborative way during the most relevant life cycle phases (reproduction and molting), avoiding a long term oxidative stress. The antioxidant system also shows changes in the enzymatic activities likely caused by the environmental factors, such as low temperatures during winter and spring seasons.

The application of high-pressure treatment in the reduction of phosphate levels in breakfast sausages.

This study investigated effects of high pressure (HP) treatment of pork meat at 150 or 300 MPa for 5 min before manufacturing sausages on the reduction of phosphate levels and compared to sausages manufactured with untreated pork meat (control sausages). Improvement in perceived saltiness, juiciness and overall flavour was observed in sausages manufactured using HP-treated meat at 150 MPa and 0% phosphate, compared to control sausages. Sausages manufactured using meat HP-treated at 150 MPa and 0.25% phosphate (P<0.05) improved hardness of sausages. HP-treated meat at 300 MPa and 0% phosphate decreased juiciness and adhesiveness, while at 0.25% phosphate, adversely affected emulsion stability and sensory attributes. HP treatment did not affect significantly the lightness of the sausages; however, elimination of phosphate reduced (P<0.05) the yellowness, while HP treatment at 150 MPa with 0.25 or 0.5% phosphate increased (P<0.05) redness. HP reatment at 150 MPa has potential for reducing phosphate levels in sausages without significant changes in their functionality and improved acceptability.

[Congenital mydriasis as an initial sign of septo-optic dysplasia]. / Midriasis congénita como signo inicial de displasia septo-óptica.

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis.

[Comparison of two types of surgical gastrostomies, open and laparoscopic in home enteral nutrition]. / Comparación entre dos tipos de gastrostomías quirúrgicas, abierta y laparoscópica, en nutrición enteral domiciliaria.

AIM: Exposing the complications of surgical gastrostomies used as way of home enteral nutritional support (HEN) and detecting the differences between the two techniques used in our environment: Open Surgery vs Laparoscopic Surgery. MATERIAL AND METHODS: Retrospective descriptive observational study of the surgical gastrostomies performed between 1994 and 2009 followed up by our unit. Have been analyzed the complications detected in our practice during the follow-up of patients with HEN performed via open laparotomy vs. laparoscopic tecniques, assessing: leaks of gastric fluid to the exterior, abdominal wall irritation, presence of exudate, presence of exudate with positive culture that required antibiotical treatment, burning or loss of substance of the periostomic zone, breach of balloon, decubitus ulcer caused by the tube and formation of granuloma. RESULTS: Between 1994 and 2009, 57 surgical gastrostomies were performed: 47 using the conventional laparotomic (open) tecnique and 10 laparoscopies. The average age of the patients was 57.51 ± 17.29 years old. The most common cause for the performance of surgical gastrostomy was esophageal cancer (38.6%) followed by neurologic alterations (26.3%) and head and neck tumors (26.3%). 97.9% of the patients who underwent to surgical gastrostomy presented at least one complication, meaning that only 2.1% were free of complications; meanwhile, 50% of the patients were laparoscopic gastrostomy was performed had none of these complications. The most common complications were the presence of leaks of gastric fluid and abdominal wall irritation that appeared on 89.4% and 83% respectively of the laparotomic gastrostomies versus the presence of only 30% of both complications in laparoscopic gastrostomies being the difference statistically significant (p < 0.01). CONCLUSIONS: After the introduction of the laparoscopic technique in the performance of surgical gastrostomies has been observed a decrease of the complications occured during the home enteral nutritional support related to surgical gastrostomies.

Hourglass cell development in the soybean seed coat.

BACKGROUND AND AIMS: Hourglass cells (HGCs) are prominent cells in the soybean seed coat, and have potential use as 'phytofactories' to produce specific proteins of interest. Previous studies have shown that HGCs initiate differentiation at about 9 d post-anthesis (dpa), assuming their characteristic morphology by 18 dpa. This study aims to document the structural changes in HGCs during this critical period, and to relate these changes to the concurrent development of a specific soybean peroxidase (SBP) encoded by the Ep gene. METHODS: Pods were collected from plants at specific growth stages. Fresh material was processed for analysis of Ep peroxidase activity. Tissues were processed for scanning and transmission electron microscopy, as well as extracted for western blotting. A null variety lacking expression of Ep peroxidase was grown as a control. KEY RESULTS AND CONCLUSIONS: At 9 dpa, HGCs are typical undifferentiated plant cells, but from 12-18 dpa they undergo rapid changes in their internal and external structure. By 18 dpa, they have assumed the characteristic hourglass shape with thick cell walls, intercellular air spaces and large central vacuoles. By 45 dpa, all organelles in HGCs have been degraded. Additional observations indicate that plasmodesmata connect all cell types. SBP activity and SBP protein are detectable in the HGC before they are fully differentiated (approx. 18 dpa). In very early stages, SBP activity appears localized in a vacuole as previously predicted. These results increase our understanding of the structure and development of the HGC and will be valuable for future studies aimed at protein targeting to components of the HGC endomembrane systems.

Anisakis simplex s.l.: Larvicidal activity of various monoterpenic derivatives of natural origin against L3 larvae in vitro and in vivo.

This paper describes the activity against Anisakis simplex s.l. L(3) larvae of six monoterpenic derivatives obtained from different essential oils, (alpha-pinene, beta-pinene, ocimene, myrcene, geranyl acetate, and cineole). In in vitro assays, alpha-pinene, ocimene and cineole showed high activity at a concentration of 125 microg/mL (48h) but only alpha-pinene and ocimene were active at 62.5 microg/mL. In in vivo assays, L(3) larvae and study compounds were simultaneously administered per os to Wistar rats. The most active compound was alpha-pinene, finding lesions in only 20% of treated rats versus 98% of controls. Further in vivo studies are required to investigate whether addition of these compounds to food could have a prophylactic effect, reducing the pathogenicity of A. simplex s.l. L(3) in humans, and to explore any possible synergy among compounds.

[Hemophagocytic syndrome secondary to visceral leishmaniasis]. / Síndrome hemofagocítico secundario a leishmaniasis visceral.

Haemophagocytic syndrome is a disease diagnosed according to clinical and analytical criteria, related to many infectious diseases. It is exceptionally described in patients infected with Leishmania. Visceral leishmaniasis is an uncommon disease in our country except in some areas where it is endemic. Its diagnosis is sometimes difficult and the use of other methods currently available is needed. Haemophagocytic syndrome treatment is based on established chemotherapy protocols, but when it is secondary to Visceral Leishmaniasis, it may be an exception, since the abnormalities can be resolved by treatment of the infection itself. This treatment has improved recently as Liposomal Amphotericin B has replaced classic antimonials, being more beneficial due to less adverse effects and a shorter treatment time.

[Partial duplication of chromosome 4q (q31, q35): Auriculo-acro-renal syndrome]. / Duplicación parcial del cromosoma 4q (q31, q35): síndrome aurículo-acro-renal.

The partial trisomy 4q is a strange chromosomal illness. This illness is caused by the duplication of a portion of chromosome 4. In most of the cases, it is the result of a balanced translocation in one of the progenitors. The "de novo" appearance is less common. We present a patient with a partial "de novo" duplication in the distal segment of the long arm of chromosome 4 (q31, q35), in association with Robertsonian translocation between chromosomes 14 and 21. This association has not been described previously. In the 4q duplication, the relationship between the phenotype and the parts of the duplicated segment is not well defined, although it seems clear that the renal anomalies and/or thumbs abnormalities are a characteristic manifestation. We have reviewed the literature and, of the cases previously described with trisomy q31-35, we came to the conclusion that this region of chromosome 4 may also be involved in constituting the "Syndrome of partial trisomy 4q" or Auriculo-acro-renal Syndrome".

[Neurocristopathies: a high incidence of cerebral dysgenesis in patients with Hirschsprung's disease]. / Neurocrestopatías: alta frecuencia de disgenesias cerebrales en pacientes con enfermedad de Hirschsprung.

INTRODUCTION: Hirschsprung's disease (HD), or aganglionic megacolon, is a congenital disorder that is characterised by the absence of ganglion cells in the submucosal and myenteric plexuses of the intestine, which is caused by the failure of these cells to migrate from the neural crest (neurocristopathy). Cerebral dysgenesis and polymalformation syndromes have been reported in association with HD, thus suggesting an abnormal morphogenesis. AIM: To study the frequency of cerebral malformations in patients with HD in our environment. PATIENTS AND METHODS: We conducted a retrospective study of 41,666 live newborn infants, over the period 1993-2003, and 17 cases of HD where identified. RESULTS: The incidence of HD in the health district of the province of Albacete is 1.68 per 5,000 live newborn infants. Of the 17 patients with HD who were studied, 10 were isolated (58.8%) and seven (41.1%) were associated to other structural abnormalities and psychomotor retardation. Three of the cases in this latter group were due to chromosome pathology (trisomy 21, Down syndrome), two were caused by specific polymalformation syndromes (one Mowat-Wilson syndrome and one possible FG syndrome), one was due to a pattern of abnormalities that did not fit any known syndrome, and one had a normal phenotype and isolated cerebral dysgenesis. In all of cases the neuroimaging studies identified cerebral dysgenesis that was compatible with neuronal migration disorders. CONCLUSIONS: The frequency of association of HD, either isolated or within the context of a specific malformation syndrome, with neuronal migration disorders is high (23.5%). We suggest a full genetic and neurological evaluation should be carried out in patients with HD, together with brain imaging studies in order to rule out the possibility of cerebral dysgenesis.

[Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family]. / Secuencia de Pena-Shokeir tipo I, asociada a síndrome de Klippel-Feil tipo II en la misma familia.

INTRODUCTION: In 1974 Pena and Shokeir described an early lethal disorder (OMIM 208150) that was characterised by neurogenic arthrogryposis, facial abnormalities and pulmonary hypoplasia. It has recently been suggested that it is secondary to the reduction of movements in the uterus due to an intrinsic pathology regardless of the cause (FADS, foetal akinesia deformation sequence). Klippel-Feil (K-F) syndrome (OMIM 118100) is defined by the congenital fusion of one or two cervical vertebrae, and clinically manifests as a shortened neck, with limited head movements, and may also be associated to other malformations. CASE REPORTS: We report the case of a family diagnosed with K-F syndrome type II. It was observed in the father and one daughter; another child presented Pena-Shokeir type I and died during the neonatal period. Both siblings presented anomalies in the central nervous system. CONCLUSIONS: The incidence of FADS syndrome is 1/10,000 deliveries and that of K-F syndrome is between 1/35,000 and 1/42,000 births. We reviewed the literature on FADS syndrome and no familiar association with K-F syndrome was found among its causes. Our aim is to report that an association between the two conditions is possible, which is very important for establishing suitable genetic counselling.

Congenital gingival hyperplasia in a neonate with foetal valproate syndrome.

There are several causes of gingival hyperplasia and one of the most well-known is drug-induced gingival enlargement. Nevertheless, causes of congenital gingival enlargement include only hereditary and metabolic disorders. Only one case of drug-induced congenital gingival hyperplasia has been reported. We present the second neonate with gingival hyperplasia in the context of foetal valproate syndrome and review the literature.

[Embryopathy due to valproic acid with severe malformations in the central nervous system]. / Embriopatía por ácido valproico con malformaciones graves del sistema nervioso central.

INTRODUCTION: Embryogenetic disorders are one of the most serious problems in the life of an epileptic. Over the last few decades many antiepileptic drugs, including valproic acid, have been shown to have teratogenic properties. Embryopathy due to valproate, also known as fetal valproate syndrome, is a well-known and documented example of these conditions. CASE REPORT: We report the case of a preterm newborn infant who, at birth, exhibited a syndrome characterised by facial dysmorphia, gingival hyperplasia, neurological hyperexcitability and multiple malformations, the most striking of which was the presence of predominantly temporal atrophy in the left brain hemisphere. The most significant event in the medical history of the case was the mother's taking valproate in monotherapy throughout the entire period of gestation as treatment for generalised idiopathic epilepsy that was diagnosed during adolescence. Screening precluded the most common metabolic, hereditary or infectious causes that can cause embryopathies. CONCLUSIONS: The mother's history of taking valproic acid and the specific findings that coincided in the peculiar embryopathy of this patient enabled us to link them.