Head trauma in the haemophilic child and management in a paediatric emergency department: Descriptive study.

INTRODUCTION: Haemophilia is one of the most common inherited bleeding disorders in the Emergency Department (ED). The most dangerous site of bleeding is the central nervous system. AIMS: To describe the characteristics of haemophiliacs arrived to our ED following a head trauma and to analyse the incidence of intracranial haemorrhage (ICH). MATERIALS AND METHODS: Retrospective, analytical, observational study, conducted in a Paediatric ED. We included haemophilic patients aged from birth to 16 years who consulted after a head trauma over a 6-year period. Data collected included age, type of haemophilia and head trauma, symptoms, prophylaxis status, CT imaging, treatment and number of visits to the ED. RESULTS: About 46 males and 85 episodes were analysed. The median age was 2.38 years. Severe haemophilia A was the most frequent type of disease (50%). All head injuries were mild, and the most frequent mechanism was a collision with an object (38.8%). In 62 episodes (72.9%) the patients were asymptomatic. The rest 23 events had symptomatology, being the most common headache (26%), emesis (21.7%) and drowsiness (17.4%). Head CT was obtained in 31 episodes, founding altered results in 10 (6 of them corresponding to ICH). All the patients with ICH had symptomatology. About 37 episodes required admission. CONCLUSION: Intracranial haemorrhage is one of the most dangerous events in haemophiliacs and it may occur after a head trauma. Our study suggests that, in case of head trauma, CT must be obtained in symptomatic patients and in those with additional risk factors. Asymptomatic patients must have prolonged observation.

The role of particle-electrode wall interactions in mobility of active Janus particles driven by electric fields.

HYPOTHESIS: The interaction of active particles with walls can explain discrepancies between experiments and theory derived for particles in the bulk. For an electric field driven metallodielectric Janus particle (JP) adjacent to an electrode, interaction between the asymmetric particle and the partially screened electrode yields a net electrostatic force - termed self-dielectrophoresis (sDEP) - that competes with induced-charge electrophoresis (ICEP) to reverse particle direction. EXPERIMENTS: The potential contribution of hydrodynamic flow to the reversal is evaluated by visualizing flow around a translating particle via micro-particle image velocimetry and chemically suppressing ICEP with poly(l-lysine)-g-poly(ethylene glycol) (PLL-PEG). Mobility of Polystyrene-Gold JPs is measured in KCl electrolytes of varying concentration and with a capacitive SiO2 coating at the metallic JP surface or electrode. Results are compared with theory and numerical simulations accounting for electrode screening. FINDINGS: PLL-PEG predominantly suppresses low-frequency mobility where propulsive electro-hydrodynamic jetting is observed; supporting the hypothesis of an electrostatic driving force at high frequencies. Simulations and theory show the magnitude, direction and frequency dispersion of JP mobility are obtained by superposition of ICEP and sDEP using the JP height and capacitance as fitting parameters. Wall proximity enhances ICEP and sDEP and manifests a secondary ICEP charge relaxation time dominating in the contact limit.

[Childhood ischemic cerebrovascular disease in a paediatric emergency service: a descriptive study]. / Enfermedad cerebrovascular de tipo isquemico posnatal en urgencias pediatricas: estudio descriptivo.

AIM: To describe the clinical presentation, risk factors and complementary tests in patients of our paediatric emergency service with a final diagnosis of ischemic stroke. PATIENTS AND METHODS: Retrospective, analytical and observational study, performed in a Paediatric Emergency Service of a tertiary-level hospital. We included patients aged 1 month to 14 years during a 12-years period with a final diagnosis of ischemic cerebrovascular disease (CVD). We analyzed personal history, symptomatology and initial complementary tests. RESULTS: Twelve patients were included, 66% males, with a median age of 77 months. 42% had remarkable history. The most frequent clinical manifestation was motor disorder (75%). 42% were diagnosed in the first 24 hours, noticing an earlier diagnosis after the introduction of a multidisciplinary protocol about CVD. CT was performed in all patients, except in two cases in whom MRI was performed. 50% of the CTs were initially normal. In the etiological study developed lately, only 42% of the patients had risk factors. 91% had some kind of sequel. CONCLUSIONS: CVD is uncommon in pediatrics, but with a high morbimortality, so it is important to make an early diagnosis. Clinical and personal history are fundamental, nevertheless, we mainly deal with a previously healthy child without known risk factors at the time of the first evaluation. In case of clinical suspicion of stroke, a normal initial CT does not rule out a CVD, so other additional tests, such as MRI, are necessary.

TITLE: Enfermedad cerebrovascular de tipo isquemico posnatal en urgencias pediatricas: estudio descriptivo.Objetivo. Describir la presentacion clinica, los factores de riesgo y las pruebas complementarias realizadas en pacientes atendidos en urgencias con diagnostico de ictus isquemico. Pacientes y metodos. Estudio retrospectivo, analitico observacional, realizado en urgencias pediatricas de un hospital de tercer nivel. Se incluyeron pacientes entre 1 mes y 14 años durante 12 años, con diagnostico de enfermedad cerebrovascular (ECV) de tipo isquemico. Se analizaron los antecedentes personales, la sintomatologia y las pruebas complementarias iniciales. Resultados. Se recogieron 12 pacientes (66% varones), con una mediana de edad de 77 meses. El 42% presento algun antecedente reseñable. La manifestacion clinica mas frecuente fue la alteracion motora (75%). El 42% fueron diagnosticados en las primeras 24 horas, y se objetivo un diagnostico mas temprano tras la introduccion de un programa multidisciplinar sobre manejo de la ECV. En todos se realizo inicialmente una tomografia axial computarizada (TAC) craneal, salvo en dos casos en los que se hizo una resonancia magnetica. La mitad de las TAC fueron normales al inicio. En el estudio etiologico posterior se encontraron factores de riesgo solo en cinco pacientes (42%). El 91% presento algun tipo de secuela. Conclusiones. La ECV es poco frecuente en pediatria, con elevada morbimortalidad, y es importante realizar un adecuado diagnostico precoz. Son fundamentales la historia clinica y los antecedentes personales, aunque en la valoracion inicial es frecuente encontrarse ante niños sanos sin factores de riesgo conocidos en ese momento. Ante la sospecha clinica de ictus, una TAC craneal inicial normal no descarta una ECV y son necesarias otras pruebas, como la resonancia magnetica.

[Abdominal vascular malformations and Down syndrome]. / Malformaciones vasculares abdominales y síndrome de Down.

Malformations of the abdominal venous system are rare vascular disorders. These entities are associated with other malformations and with chromosomal anomalies such as trisomy 21. Abdominal venous malformations are probably the most frequent congenital vascular malformations in Down syndrome. Prenatal diagnosis allows the early follow-up and treatment of complications. We present a case of Down syndrome associated with an abdominal venous malformation diagnosed at the first trimester of pregnancy.

[Holt-Oram syndrome: characterization of a novel mutation]. / Síndrome de Holt-Oram: caracterización de una nueva mutación.

INTRODUCTION: Cardiomyelic syndromes encompass congenital heart disease and skeletal malformations of the upper limbs and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is caused by a dominant mutation in the TBX5 gene that alters the three-dimensional structure of the protein and its DNA binding function. Several point mutations and deletions in TBX5 have been reported in patients with the Holt-Oram syndrome phenotype. PATIENTS AND METHODS: The proband was a boy with a large atrial septal defect ostium secundum type and a ventricular septal defect, diagnosed by clinical findings (heart murmur) and echocardiography. He also presented slightly hypoplastic thumbs with distal bilateral placement and an implantation index of 0.19 (compared with an average of 0.50 for his gestational age at birth). The boy was referred to the department of medical genetics to rule out 22q11.2 microdeletion syndrome. RESULTS: Karyotype and fluorescence in situ hybridization at locus D22S75 were both normal. Because of his clinical findings, molecular study for Holt-Oram syndrome was indicated, leading to the finding of a mutation at intron 7 of TBX5, probably producing a splicing alteration of the gene and resulting in a protein truncated at its C-terminal end. The proband's parents presented the wild type sequence of the gene, thus indicating that the mutation was produced de novo, although a possible germinal mosaicism in the parents could not be ruled out. CONCLUSIONS: Holt-Oram syndrome is the most frequent cause of cardiomyelic syndrome. All children with heart malformations and abnormalities of the upper limbs such as absent, hypoplastic, distally placed or triphalangic thumbs should undergo molecular studies for this syndrome.

Early neurological manifestations and brain anomalies in Marden-Walker syndrome.

We report on an infant with the Marden-Walker syndrome. In addition to the consistent neurological abnormalities described previously in this syndrome, the infant had a striking neurological constellation, absence of primitive reflexes, jerky eye movements, failure to habituate to repeated stimuli, inadequate behavior development, and absence of orientation responses to visual or auditory stimuli. Muscle biopsy showed a similar pattern to the congenital fiber-type disproportion. Ultrasonograms and magnetic resonance imaging of his brain demonstrated absence of corpus callosum, colpocephaly, hypoplastic brainstem, hypoplasia of the inferior vermis and of the cerebellar hemispheres. These findings further delineate this syndrome and suggest that prenatal central nervous system (CNS) dysfunction, mainly of the cerebellum and brainstem, may play a significant role in the pathogenesis of the Marden-Walker syndrome.

Safety of the concomitant use of caspofungin and cyclosporin A in patients with invasive fungal infections.

Caspofungin, an echinocandin antifungal agent, is active against invasive Aspergillus and Candida infections. In a phase I study in healthy volunteers, mild transient increases in serum aminotransferases were observed with the concomitant administration of caspofungin and cyclosporin A (CsA). As a result, it is recommended that the concomitant use of the two drugs be limited to those settings with appropriate risk-benefit balance. We retrospectively assessed safety data in 14 patients with refractory invasive mycoses who were treated concomitantly with CsA and caspofungin before the drug was licensed in Spain. In all, 13 patients were adults (median age, 31.5 years; range, 14-67 years). The average duration of concomitant therapy was 15 days (range, 2-43 days). No clinically significant elevations of serum aminotransferases were observed, and no patient had concomitant therapy discontinued or interrupted due to a drug-related adverse event. In this study of a limited number of patients, the coadministration of caspofungin and CsA was generally well tolerated.

An experimental test of Booth's primary electroviscous effect theory.

The primary electroviscous effect has been investigated in dilute suspensions of titanium oxide (anatase), the viscosities of which were measured by means of a capillary viscometer with automatic timing. The linear relation between viscosity and solids volume fraction was first determined at the isoelectric point of the particles when the particles are uncharged, and the electroviscous contribution to the intrinsic viscosity was then determined at other values of pH. Booth's theory (Proc. R. Soc. London Ser. A203, 533 (1950)) agrees well with the experimental results when the particle zeta potential is small and the double layer is thin (kappa alpha approximately 7.3), but agreement is poor when the double layer is thick (kappa alpha approximately 0.6).

Stern-layer parameters of alumina suspensions.

The specific adsorption of Mg(+2) and S(2)O(-2)(8) ions onto the gamma-alumina particle surface has been demonstrated. An estimation algorithm based upon the correlation between electrophoretic mobility and conductivity increment experimental data, employing a dynamic Stern-layer theory, has been developed and used to get the adsorption parameters into the Stern layer for different gamma-alumina/Mg(+2) and S(2)O(-2)(8) aqueous solutions interface.

A protection system for the JET ITER-like wall based on imaging diagnostics.

The new JET ITER-like wall (made of beryllium and tungsten) is more fragile than the former carbon fiber composite wall and requires active protection to prevent excessive heat loads on the plasma facing components (PFC). Analog CCD cameras operating in the near infrared wavelength are used to measure surface temperature of the PFCs. Region of interest (ROI) analysis is performed in real time and the maximum temperature measured in each ROI is sent to the vessel thermal map. The protection of the ITER-like wall system started in October 2011 and has already successfully led to a safe landing of the plasma when hot spots were observed on the Be main chamber PFCs. Divertor protection is more of a challenge due to dust deposits that often generate false hot spots. In this contribution we describe the camera, data capture and real time processing systems. We discuss the calibration strategy for the temperature measurements with cross validation with thermal IR cameras and bi-color pyrometers. Most importantly, we demonstrate that a protection system based on CCD cameras can work and show examples of hot spot detections that stop the plasma pulse. The limits of such a design and the associated constraints on the operations are also presented.

Effect of the combined action of Faradaic currents and mobility differences in ac electro-osmosis.

In this work, we extend previous analyses of ac electro-osmosis to account for the combined action of two experimentally relevant effects: (i) Faradaic currents from electrochemical reactions at the electrodes and (ii) differences in ion mobilities of the electrolyte. In previous works, the ac electro-osmotic motion has been analyzed theoretically under the assumption that only forces in the diffuse (Debye) layer are relevant. Here, we first show that if the ion mobilities of a 1-1 aqueous solution are different, the charged zone expands from the Debye layer to include the diffusion layer. We later include the Faradaic currents and, as an attempt to explore both factors simultaneously, we perform a thin-layer, low-frequency, linear analysis of the system. Finally, the model is applied to the case of an electrolyte actuated by a traveling-wave signal. A steady liquid motion in opposite direction to the applied signal is predicted for some ranges of the parameters. This could serve as a partial explanation for the observed flow reversal in some experiments.

Flow reversal in traveling-wave electrokinetics: an analysis of forces due to ionic concentration gradients.

Pumping of electrolytes using ac electric fields from arrays of microelectrodes is a subject of current research. The behavior of fluids at low signal amplitudes (<2-3 V(pp)) is in qualitative agreement with the prediction of the ac electroosmosis theory. At higher voltages, this theory cannot account for the experimental observations. In some cases, net pumping is generated in the direction opposite to that predicted by the theory (flow reversal). In this work, we use fluorescent dyes to study the effect of ionic concentration gradients generated by Faradaic currents. We also evaluate the influence of factors such as the channel height and microelectrode array shape in the pumping of electrolytes with traveling-wave potentials. Induced charge beyond the Debye length is postulated to be responsible for the forces generating the observed flows at higher voltages. Numerical calculations are performed in order to illustrate the mechanisms that might be responsible for generating the flow.

Traveling-wave electrokinetic micropumps: velocity, electrical current, and impedance measurements.

An array of microelectrodes covered in an electrolyte and energized by a traveling-wave potential produces net movement of the fluid. Arrays of platinum microelectrodes of two different characteristic sizes have been studied. For both sizes of arrays, at low voltages (<2 V pp) the electrolyte flow is in qualitative agreement with the linear theory of ac electroosmosis. At voltages above a threshold, the direction of fluid flow is reversed. The electrical impedance of the electrode-electrolyte system was measured after the experiments, and changes in the electrical properties of the electrolyte were observed. Measurements of the electrical current during pumping of the electrolyte are also reported. Transient behaviors in both electrical current and fluid velocity were observed. The Faradaic currents probably generate conductivity gradients in the liquid bulk, which in turn give rise to electrical forces. These effects are discussed in relation to the fluid flow observations.

[Neonatal osteoarthritis. Report on 24 cases (author's transl)]. / Infección osteoarticular en el recién nacido.

Twenty four neonates affected of osteoarticular infection, treated on the Neonatal Unit throughout a four and a half year period are analyzed. In the majority of instances they represent a complication in the course of neonatal sepsis. In more than half of them there was a previous umbilical vessel catheterization. "Staphilococcus aureus" was the most frequent etiologic agent. Involvement of the hip was the location more often seen and of worse prognosis. Treatment besides of supportative measures, and specific antibiotic therapy, included posterior arthrotomy in the 13 cases of hip arthritis, and diagnostic puncture and/or arthrotomy in the rest of locations. There was no mortality, and only 20% of the patients exhibits long-term residual defects of variable degree.

Occipital osteodiastasis. A rare complication in cephalic delivery.

A case of occipital bone osteodiastasis in an infant born by cephalic vaginal delivery is presented. Cerebral echography and CT scan did not show posterior fossa haemorrhage. Neurological assessment at three years of age was completely normal.

[Parenteral nutrition in management of sick low birth weight infant (under 2,000 g.) (author's transl)]. / Alimentación parenteral en recién nacidos con patología asociada y peso inferior a 2 kg

A serie accounting for 32 newborn sick infants with a mean weight of 1,324 g. and gestational age of 30.6 weeks in whom parenteral nutrition was applied alone or as supplementation of oral alimentation is presented. The mean duration was of ten days, and mean weight increment of 14.6 g. Infectious complication were the most frequent (25%). Mortality was 46% due in part to the important associated pathology. The general lines for management of these infant are given. Finally it is pointed out that, intravenous nutrition is only justified by the failure to use oral feeding.

[Isoimmune neonatal neutropenia: apropos of a case]. / Neutropenia neonatal isoinmune: a propósito de un caso.

Etiological diagnosis is a very important aspect in neonatal neutropenias because of different prognosis that implies. Isoimmune neonatal neutropenia is one of these processes, with good prognosis and which is rarely diagnosed; it is due to maternal isoimmunization during pregnancy against a foetus specific neutrophil antigen, inherited from the father. Authors present a case, in which a deep neutropenia during the first fifteen days of life, was observed with high monocytosis and without other associations; baby returned to normal levels when he was three months old. Presence of an antineutrophil antibody in mother's serum, with specificity against father's and baby's granulocytes was demonstrated. Bibliography is revised and differential diagnosis and treatment is discussed.

Tetrasomy 8p: discordance of amniotic fluid and blood karyotypes.

We describe a girl with congenital heart defect (ventricular septal defect), facial, ear and bone anomalies, agenesis of corpus callosum and conventional cytogenetic studies showing tetrasomy 8p. The identity of the isochromosome was confirmed by fluorescent in situ hybridization (FISH) using painting, subtelomeric and alpha satellite probes for chromosome 8. The extra isochromosome was observed in 100% of cultured peripheral lymphocytes (47,XX,+i(8)(p10)), but normal chromosomes were recorded in cultured amniotic fluid. Microsatellites analysis of the patient's DNA with two markers mapping 8p showed three different peaks, and two markers mapping 8q showed two peaks. To the best of our knowledge, this patient represents the twelfth reported case of tetrasomy 8p. In addition, our report is the first case with a pure tetrasomy 8p in blood, (the other published cases are mosaic 8p), and the second case with a discordance of amniotic fluid and blood karyotypes [Robinow et al., 1989: Am J Med Genet 32:320-324].

[Neonatal listeriosis: third Spanish series on 45 observations (author's transl)]. / Listeriosis neonatal. Tercera serie española a propósito de 45 casos.

During the period January'69-June'81, 45 cases of listeriosis in neonatal period were observed. 37 of them had an early onset (82%) while other eight had late infection disease (18%). Incidence was 1/6,346 newborns with most frequent presentation in spring. No epidemic forms or asymptomatic carriers were discovered. Perinatal, clinical, analytical, radiological, bacteriologic and pathological data are shown, emphasizing differences between the two clinical forms. Overall mortality of 43%, although brought to zero in the last six years, together with the same percentage of neurological sequela in the late form, urges for better knowledge of epidemiology and preventive measures, as well as a closer obstetric-neonatal relationship.

[Multiple type I pseudohypoaldosteronism: neonatal management and outcome]. / Seudohipoaldosteronismo tipo I múltiple: presentación y seguimiento.

UNLABELLED: Multiple type I pseudohypoaldosteronism (PHA-I) is an autosomal recessive condition with multiple target-organ unresponsiveness to aldosterone, manifested early after birth with severe salt-wasting and hyperkalemia. Case 1. Female infant born at term after an uneventful pregnancy. One female sibling died in the first week of life with hyperkalemia. The diagnosis of multiple PHA-I resulted from a picture of dehydratation, hyperkalemia and hyponatremia with increased plasma renin activity (PRA), plasma aldosterone and sweat electrolytes. The treatment consisted of salt and sodium bicarbonate supplements, restricted potassium intake, cation exchange resins and high fluid intake. During first year she was hospitalized for severe salt-losing crises. At 7 years of age, she needs salt and sodium bicarbonate supplements and cation exchange resins. She has a normal growth and neurodevelopment. Case 2. Seven-day female newborn with consanguinity in maternal family. Pregnancy and delivery were uncomplicated. On admission she was severely dehydrated with hyponatremia, hyperkalemia, metabolic acidosis and elevated PRA, plasma aldosterone and sweat electrolytes. She remained hospitalized for six months and she was dependent on high amounts of salt and sodium bicarbonate supplements, fluid intake and cation exchange resins. Growth and neurodevelopment are normal. CONCLUSIONS: Multiple PHA-I may be suspected in a newborn with salt-loss and hyperkalemia without glucocorticoid defect. The frequent episodes of dehydratation during the first year of life require long hospitalization. The improvement with age make possible an ambulatory control after the first year of life.