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.

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.

[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".

[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.

[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.

[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.

[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.

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.

[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.

The chromatin of sea urchin sperm.

Digestion of sea urchin sperm nuclei with micrococcal nuclease yields nucleosomal monomer fragments of 151 and 164 base pairs. Prior trypsin treatment of the sperm chromatin does not alter the size of these monomer DNA fragments despite the fact that the H1 histone is reduced to a limit globular peptide of about 83 residues. Heterologous reconstitution experiments show that this peptide is capable of protecting an extra 22 base pairs beyond the core particle in a chromatosome. Nuclease digestion of reconstitutes from DNA and sperm core histones yields a core monomer of about 141 base pairs. It is concluded that this sperm chromatin contains a chromatosome of 164 bp essentially similar to that observed in the more usual chromatins. Edman degradation of the H1 limit peptide shows its sequence to be closely analogous to the corresponding peptide of calf H1 and chicken H5. Circular dichroism studies of histone H1 from the sperm of three sea urchin species demonstrate the presence of trypsin-sensitive helical regions outside the globular domain that are absent in calf H1 and chicken H5.

[Systemic arterial hypertension in primary chronic glomerulonephritis: prevalence and its influence on the renal prognosis]. / Hipertensión arterial en las glomerulonefritis primarias crónicas biopsiadas: prevalencia e influencia en el pronóstico renal.

UNLABELLED: Nowadays, glomerulonephritis is one of the most common causes of End-stage Renal Disease and starting point of dialysis in Spain. Several factors may influence negatively in this prognosis; among them, we may show up the systemic arterial hypertension. Though its prevalence in the glomerulonephritis is considered higher than in other nephropathies, with variations among series, probably due to difference in ages, in geographical areas, in histological types, in time on evolution of the nephritis ... and because it is difficult to distinguish if the hypertension is a consequence of the nephritis or a consequence of the renal failure that can be present in several cases. In the same way, its negative influence in the renal prognosis may be influenced more by this renal failure, which can be its cause when it is quite severe, than by the hypertension itself. Our aims were to analyse, on the one hand the prevalence of hypertension in the 394 patients diagnosed of primary glomerulonephritis by means of a renal biopsy during two decades in the Bay of Cadiz, as well as its influence in the renal prognosis since the moment of the diagnosis, even with the absence of severe renal failure. We gathered demographic, clinical, analytical and histological data, as well as the situation of the renal function and the survival period of it at the end of each patient study. For the analysis prognosis and renal survival, Kaplan-Meier curves and the long-rank test were used. Of the 394 patients, 247 are men and 147 are women, with an average age of 36.7 +/- 17.7 years old. The global prevalence of hypertension was 39%, with a higher frequency in older patients. The gathered rate of renal survival for hypertensive patients was 54%, 28%, 20% and 4% at 5, 10, 15 and 20 years respectively; while for non-hypertensive patients, it was 83%, 75%, 66% and 62% for the same periods of time (p < 0.001). This worse tendency for hypertensive patients is observed too in each particular histological type, especially in the IgA nephropathy and membranous nephropathy. These results were the same for the patients who did not have severe renal failure in the moment of the biopsy. CONCLUSIONS: Hypertension is a common fact in the primary glomerulonephritis, which also conditions, in an important way, the renal prognosis itself in a long term, from the moment of diagnosis and even before the existence of a significant renal failure.

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.

De novo interstitial tandem duplication of chromosome 4(q21-q28).

We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q.

Decreased Tamm-Horsfall protein in lithiasic patients.

OBJECTIVES: Tamm-Horsfall glycoprotein (THP) is the most abundant substance of renal origin appearing in urine. It seems to be one of the major inhibitors of calcium oxalate crystal nucleation and/or aggregation, but its role in the pathogenesis of stone formation has not yet been clarified. The present work was undertaken to quantify THP excretion in lithiasic (L) patients, so as to determine if these levels are different from those of control subjects (C). DESIGN AND METHODS: THP was isolated from human urine by reprecipitation steps, rabbit antiTHP antibody was obtained and its specificity determined, an ELISA was developed and technical conditions standardized, and quantitative measurements of urinary THP were performed on samples from L patients, who had suffered more than one lithiasic episode, and from C subjects. Microtiter plates coated with THP or diluted urine samples were subjected to successive incubation with antiTHP and alkaline phosphatase antirabbit IgG. RESULTS: A good correlation between measured absorbance and THP concentration in standard and urine samples was observed. Data, expressed as Median and Interquartile Range, are 388/209-626 micrograms THP/mmol creatinine for C (n = 85) and 124/82-171 micrograms THP/mmol creatinine for L (n = 23). CONCLUSIONS: We have obtained an antiserum antiTHP that can be used in the ELISA technique to determine reliable urinary THP values. The results show a significant decrease of THP excretion in recurrent stone formers compared to controls (p < 0.001) and may have interesting implications in the pathogenesis of urolithiasis.

[Vegetarian diet in glutaric aciduria type I]. / Dieta vegetariana en aciduria glutárica tipo I.

Glutaric aciduria type I is an autosomal recessive metabolic disease (1 case/30,000) characterized by a progressive dystonic-diakinetic syndrome in children. Pathologic examination reveals striatal degeneration of the caudate and putamen nucleus and biochemical analysis shows glutaryl CoA dehydrogenase deficiency. Values of glutaric and -hydroxyglutaric acids in urine are usually increased. Currently, the disease is considered untreatable since there are usually irreversible lesions in the central nervous system at diagnosis. However, treatment can be provided to pre-symptomatic children and usually to the siblings of patients with this diagnosis. We present the case of a 23-month-old boy, with macrocephaly and minimal neurologic manifestations at diagnosis, which were attributed to his semivegetarian diet. A dietary regimen and vitamin supplementation halted and even improved symptomatic progression of the disease. We conclude that amino and organic acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I.

[Central venous access by the Seldinger technic in neonatology]. / Accesos venosos centrales por técnica de Seldinger en neonatología.

Eighteen catheterizations were attempted in 17 patients catheters (Arrow 3ChFr and 4ChFr), between january of 1996 and december of 1997. The patients ranged in age from 3 to 148 days (mean of 43.3 and standard deviation of 47.5) and in weight from 1110 to 4000 grams (mean of 3182 grams and standard deviation 767.2 grams). Overall successful catheterization rate was 94.5%. Complications included a pneumothorax that needed pleural drainage, one self-limited femoral artery spasm and one stenosis of femoral vein that did not require any treatment. The mean catheterism time was 6.64 days (deviation of 3.84 days), and the causes of removal were end of treatment in 8 patients, accidental removal in 5, infectious suspicion in 2 and limb edema in 2. Seldinger technique may be a useful approach for central venous catheterization in neonates. Careful catheterization, extensive experience and appropriate selection of material, help to keep the risk of complications low.