Clinical practice guidelines on leptospirosis in children 2019

Executive Summary@#Leptospirosis is a disease prevalent mostly in tropical and subtropical countries. Its potential to be a concerning problem emerges with the onset of the rainy season, as flooding and heavy rainfall facilitate disease epidemics. Among those at risk of contracting the disease are field workers, veterinarians, sewer workers, military personnel and those who swim or wade in contaminated waters. In the absence of an existing evidence-based guideline for the pediatric age group, this first edition hopes to standardize approach to diagnosis, antibiotic management, and prevention of leptospirosis. The intended users are primary care physicians, family medicine physicians, pediatricians, and other healthcare workers involved in the management of leptospirosis in children. Ten priority questions were identified by a group of experts composed of an oversight committee, a guideline writing panel, and a technical review committee. The GRADE methodology was used to determine the quality of evidence of each recommendation. The draft recommendations (summarized below) were finalized after these were presented to and voted on by a panel of stakeholders.

Diseño y evaluación de una cartilla para el Programa de Salud Bucodental en niños desde el nacimiento / Design and evaluation of a booklet for the Oral Health Program in children from birth

Fundamento: En España no existe un control preventivo de la salud bucodental desde el nacimiento. Estoconlleva una serie de riesgos, como el aumento decaries en niños. El objetivo de este trabajo fue diseñar una cartilla odontopediátrica para la valoración yseguimiento clínico de la salud bucodental en niños,así como su evaluación por profesionales de la salud yprogenitores/tutores. Método: Diseño de la cartilla, en 2018, por odontopediatras de la Clínica Odontológica Universitaria de Murcia,a partir de una revisión bibliográfica, para instruir enhábitos preventivos (dietéticos e higiene bucodental) ycurativos (planificación de visitas y tratamientos odontopediátricos). Evaluación del diseño preliminar, en2019, por un grupo de cuarenta odontopediatras, odontólogos, pediatras y progenitores/tutores, muestreadospor conveniencia. Cumplimentaron un cuestionario consus datos, opinión sobre distintos aspectos de la cartilla y sugerencias. Resultados: La evaluación de la versión preliminar de lacartilla por profesionales de salud y progenitores/tutoresfue positiva; se modificó atendiendo a sus sugerencias yse confeccionó la versión final: cartilla de 16 páginas, condatos de filiación del niño y progenitores/tutores, conenfoque preventivo y curativo, haciendo coincidir en eltiempo revisiones pediátricas y odontopediátricas. Conclusiones: La cartilla odontopediátrica se ha creado y ha sido valorada positivamente por distintosprofesionales y tutores. Se recomienda su uso para laatención odontológica temprana, pudiendo ampliarse aotros sistemas de salud a nivel autonómico en España.(AU)

Background: There is no preventive control of oralhealth from birth in Spain. This situation entails anumber of risks, such as increased caries lesions inchildren. The objective of this study was to design apediatric dentistry booklet for the clinical assessmentand follow-up of oral health in children, as well as itsevaluation by health professionals and parents.Method: Design of the booklet, in 2018, by pediatricdentists of the Murcia University Dental Clinic, basedon a bibliographic review, to instruct in preventive(dietary and oral hygiene) and curative (planning ofpediatric dental visits and treatments) habits. A convenience sampling of forty pediatric dentists, dentists,pediatricians and parents was carried out to evaluatethe preliminary design, in 2019. They completed a questionnaire with their data, opinion on different aspects ofthe booklet and suggestions. Results: The evaluation of the preliminary version ofthe booklet by health professionals and parents waspositive. It was modified in line with their suggestionsand the final version was made: a 16-page booklet, withdata on the child’s affiliation and parents, with a preventive and curative approach, making pediatric andpediatric dental check-ups coincide in time. Conclusions: The pediatric dentistry booklet was created and has been positively valued by professionalsand parents, its use is recommended for early dentalcare, and can be extended to other health systems atthe regional level in Spain.(AU)

[Design and evaluation of a booklet for the Oral Health Program in children from birth].

BACKGROUND: There is no preventive control of oral health from birth in Spain. This situation entails a number of risks, such as increased caries lesions in children. The objective of this study was to design a pediatric dentistry booklet for the clinical assessment and follow-up of oral health in children, as well as its evaluation by health professionals and parents. METHOD: Design of the booklet, in 2018, by pediatric dentists of the Murcia University Dental Clinic, based on a biblio-graphic review, to instruct in preventive (dietary and oral hygiene) and curative (planning of pediatric dental visits and treatments) habits. A convenience sampling of forty pediatric dentists, dentists, pediatricians and parents was carried out to evaluate the preliminary design, in 2019. They completed a questionnaire with their data, opinion on different aspects of the booklet and suggestions. RESULTS: The evaluation of the preliminary version of the booklet by health professionals and parents was positive. It was modified in line with their suggestions and the final version was made: a 16-page booklet, with data on the child's affilia-tion and parents, with a preventive and curative approach, making pediatric and pediatric dental check-ups coincide in time. CONCLUSIONS: The pediatric dentistry booklet was created and has been positively valued by professionals and parents, its use is recommended for early dental care, and can be extended to other health systems at the regional level in Spain.

Carotenoids from persimmon juice processing.

The aim of this study was the use and revalorization of two persimmon by-products A and B generated in the juice production process. The by-product B resulting from a pectinase enzymatic treatment of peels and pulp to optimize juice extraction was especially suitable for recovery of valuable bioactive carotenoids. The extraction solvents and solvent combinations used were: ethanol, acetone, ethanol/acetone (50:50 v/v) and ethanol/acetone/hexane (25:25:50 v/v/v). HPLC-DAD analysis detected and identified a total of nine individual carotenoids namely violaxanthin, neoxanthin, antheraxanthin, lutein, zeaxanthin, ß-cryptoxanthin 5,6-epoxide, ß-cryptoxanthin, α-carotene, and ß-carotene. ß-cryptoxanthin and ß-carotene represented 49.2% and 13.2% of the total carotenoid content (TCC) in the acetone extract from by-product B. TCC contributed greatly to antioxidant activity of acetone extract derived from this by-product. Pectinase enzymatic treatment of persimmon peels and pulp followed by absolute acetone extraction of carotenoids could be an efficient method to obtain a rich extract in these compounds that could be used as nutraceutical ingredient.

Traqueostomía en pacientes con COVID-19: recomendaciones actuales / Traqueostomy in COVID-19 patients: current recomendations

Resumen El nuevo coronavirus (SARS-CoV-2), causante de la enfermedad COVID-19, es una pandemia con alta morbimortalidad mundial. Uno de los factores más importantes es su alta tasa de transmisibilidad por gotitas, aerosoles y fómites. La tendencia actual es el aumento progresivo de pacientes contagiados en nuestro país y, por consiguiente, de mayor cantidad de enfermos en unidades de cuidados intensivos (UCI) con uso de ventilación mecánica invasiva (VMI). La traqueostomía (TQT) se utiliza en pacientes críticos para facilitar la VMI a largo plazo y el destete de la ventilación. Una TQT temprana, definida como la realizada en los primeros 7 días después de la intubación orotraqueal (IOT), se asocia a una reducción en el tiempo de la VMI, mortalidad y permanencia en UCI. La TQT es una técnica quirúrgica con alta generación de aerosoles la cual implica medidas especiales frente a la realización de ésta en pacientes con COVID-19. Para limitar el contagio del SARS-CoV-2 en los trabajadores de salud es necesario el uso de elementos de protección personal (EPP) adecuados según la intervención a realizar. Es por esta razón que en el presente artículo se propone utilizar el acrónimo C-O-RO-NA para no olvidar elementos y pasos fundamentales al momento de realizar esta técnica, minimizando de esta manera el contagio en los trabajadores de salud.

The new coronavirus (SARS-CoV-2), which causes COVID-19 disease, is a high mortality pandemic illness. One of the most important factors is its high rate of transmissibility by respiratory droplets, aerosols and fomites. The reigning trend of this disease is progressively increasing infected patients in our country, therefore, more patients in intensive care units (ICU) with invasive mechanical ventilation (IMV). Tracheostomy (TQT) is used in critical patients to facilitate long-term IMV and ventilation weaning. An early TQT, defined as performed in the first 7 days after orotracheal intubation (IOT) is associated with a reduction IMV duration, mortality rate and length of stay in ICU. TQT is a surgical procedure which generates a huge amount of aerosols that need special measures to perform in COVID-19 patients. It is necessary to use appropriate personal protection elements (PPE) according to the intervention, limiting the spread of SARS-CoV-2 in health workers. It is for this reason that this article proposes to use the acronym C-O-RO-NA to remember fundamental elements and steps when performing this technique in order to minimize health workers infection.

Diagnósticos Enfermeros prevalentes en pacientes mayores con úlceras por presión: estudio transversal / Prevalent nursing diagnoses in elderly with pressure ulcers: cross-sectional study / Diagnósticos Enfermeiros prevalentes em pacientes idosos com úlceras por pressão: estudo transversal

Resumen Objetivo Determinar la prevalencia de los diagnósticos enfermeros en pacientes adultos mayores hospitalizados con úlceras por presión e identificar los diagnósticos enfermeros reales, potenciales, de salud y síndrome por patrón funcional de salud. Material y métodos Estudio Transversal, descriptivo conformado por una muestra de pacientes adultos mayores hospitalizados en diferentes servicios de un Hospital de Acapulco, Guerrero, México. Para su evaluación, se diseñó un instrumento de acuerdo con los patrones funcionales de Marjory Gordon. Se utilizó la plataforma de mejores prácticas de enfermería E-cuidados® para el análisis. Resultados El presente estudio identificó 36 diagnósticos relevantes, de los cuales 23 (63.9 %) fueron diagnósticos centrados en el problema, 10 (27.8 %) diagnósticos de riesgo y 3 (8.3 %) de promoción a la salud. Los patrones funcionales más afectados son; Actividad-Ejercicio, Nutricional-Metabólico y Valores-Creencias. Conclusiones El presente estudio ayuda a enfatizar la importancia de adoptar estrategias preventivas y de atención integral, así como la mejora de la planificación de la atención para evitar el deterioro de las condiciones en los pacientes adultos mayores.

Abstract Objective To determine the prevalence of diverse nursing diagnostics in hospitalized older patients with pressure ulcers, identifying the real, potential, and health-related ones, as well as syndrome by health functional pattern. Methods and material This is a transversal and descriptive study with a sample of older patients in different services in a hospital of Acapulco, Guerrero, Mexico. An assessment instrument was designed following the Functional Patterns of Marjory Gordon. The E-cuidados® best nursing practices platform was used for the analysis. Results 36 relevant diagnostics were identified: 23 (63.9 %) were problem-centered; 10 (27.8 %) were risk related; and 3 (8.3 %) were health promoting. The most affected functional patterns were: Activity-Exercise; Nutrition-Metabolism; and Values-Beliefs. Conclusions This study supports the need to highlight the importance of adopting preventive and integral attention strategies, as well as improving the attention planning process in order to avoid the deterioration of health conditions of older patients.

Resumo Objetivo Determinar a prevalência dos diagnósticos enfermeiros em pacientes idosos hospitalizados com úlceras por pressão e identificar os diagnósticos enfermeiros reais, potenciais, de saúde e síndrome por padrão funcional de saúde. Material e métodos Estudo Transversal, descritivo conformado por uma amostra de pacientes idosos hospitalizados em diferentes serviços de um Hospital de Acapulco, Guerrero, México. Para sua avaliação, desenhou-se um instrumento conforme com os padrões funcionais de Marjory Gordon. Utilizou-se a plataforma de melhores práticas de enfermagem E-cuidados® para a análise. Resultados O presente estudo identificou 36 diagnósticos relevantes, dos quais 23 (63.9 %) foram diagnósticos centrados no problema, 10 (27.8 %) diagnósticos de risco e 3 (8.3 %) de promoção à saúde. Os padrões funcionais mais afetados são; Atividade-Exercício, Nutricional-Metabólico e Valores-Crenças. Conclusões O presente estudo ajuda a enfatizar a importância de adotar estratégias preventivas e de atenção integral, assim como a melhora da planificação da atenção para evitar a deterioração das condições nos pacientes idosos.

Does mercury presence in soils promote their microbial activity? The Almadenejos case (Almadén mercury mining district, Spain).

Mercury is considered a very toxic element and important efforts are currently being made aimed at reduce or even eliminating its usage. Despite this trend, there are still sites where contamination by this metal is very marked, especially in the mining environment of Almadén where it has been exploited for thousands of years. The several forms in which Hg occurs in the soil interact differently with the organisms that live in/on it. The soil is a place where many biotic and abiotic variables act together. Through a detailed study of the edaphic characteristics of a decommissioned metallurgical enclosure, the presence of different chemical forms of Hg, the study of microbial activity (DHA) and, finally, parameters of the vegetation cover, such as specific distribution and biomass, we have tried to elucidate the effect of the presence of Hg in this precinct with a very high Hg pollution. The obtained results showed the affection patterns by which the different measured parameters vary, with special incidence to the microbial activity of the topsoil and to the specific distribution of the plants found in the studied area. The statistical multivariate analysis showed that significant correlations have been found between soil Hg fractions and between Hg fractions in plants; furthermore, soil conditions seem to be not related with Hg transfer from soils to plants. Biomass and DHA data indicate that the studied area is not affected by the presence of Hg species and lacks the expected toxic effects on the living organisms.

[Early onset epileptic encephalopathy in a patient with mutation in SCN8A]. / Encefalopatia epileptica de inicio precoz en un paciente con mutacion en SCN8A.

TITLE: Encefalopatia epileptica de inicio precoz en un paciente con mutacion en SCN8A.

Encefalopatía epiléptica de inicio precoz en un paciente con mutación en SCN8A / Early onset epileptic encephalopathy in a patient with mutation in SCN8A

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Perspectivas éticas, legales y deontológicas de los documentos del consentimiento informado enfermero / The ethical, legal and deontological pespectives of nurse informed consent documents

El consentimiento informado se fundamenta en el respeto a la autonomía de los pacientes. Es un procedimiento de diálogo entre el paciente y el profesional sanitario que permite a las personas enfermas expresar su decisión sobre su cuerpo, su vida y su salud, y a los profesionales respetar la libertad de aquellos, permitiéndoles asumir sus responsabilidades en la toma de decisiones sobre sí mismos. En su ámbito laboral, aun teniendo clara la obligación de informar verbalmente, las enfermeras/os llevan a cabo procedimientos y técnicas para las que se requiere (o se debería requerir) previamente la obtención del consentimiento informado por escrito de la persona (o la familia) que va a ser objeto de dicha intervención. Las publicaciones muestran un papel controvertido, y a veces erróneo, del papel de los profesionales enfermeros respecto del consentimiento informado. La exigencia, en ocasiones, de que sean las enfermeras/os las que entreguen y obtengan el consentimiento informado para intervenciones que realizan los médicos es un ejemplo de dicho conflicto. La evolución de la teoría del consentimiento informado, donde los pacientes tienen cada vez un papel más decisivo y autónomo, afecta de lleno a los profesionales enfermeros. Se requiere potenciar la comunicación con el paciente, proporcionar un trato más humano y aumentar la calidad asistencial (AU)

Informed consent is based on respect for patients' autonomy. It is a procedure of dialogue between the patient and the healthcare professional, which allows sick persons to express their decision about their body, their life and health, and professionals to respect the freedom of the former, allowing them to take the responsibility for decisions made about themselves. In their work setting, even when there is a clear duty for providing oral information, nurses conduct procedures and techniques which require (or should require) a previous informed consent in written by the person who will undergo said intervention (or their family). Publications show a controversial and sometimes wrong role of nursing professionals regarding informed consent. Demanding on some occasions that nurses must provide and obtain the informed consent for interventions conducted by physicians is an example of said conflict. The evolution of the informed consent theory, where patients are playing an increasingly decisive and autonomous role, has a full impact on nursing professionals. It is necessary to boost communication with patients, to provide a more humane treatment, and to increase the quality of care (AU)

Silo discharge of binary granular mixtures.

We present numerical and experimental results on the mass flow rate during the discharge of three-dimensional silos filled with a bidisperse mixture of grains of different sizes. We analyzed the influence of the ratio between coarse and fine particles on the profile of volume fraction and velocity across the orifice. By using numerical simulations, we have shown that the velocity profile has the same shape as that in the monodisperse case and is insensitive to the composition of the mixture. On the contrary, the volume fraction profile is strongly affected by the composition of the mixture. Assuming that an effective particle size can be introduced to characterize the mixture, we have shown that previous expression for the mass flow rate of monodisperse particles can be used for binary mixtures. A comparison with Beverloo's correlation is also presented.

[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases]. / Variaciones fenotípicas en el síndrome de Aicardi-Goutières causado por mutaciones en el gen RNASEH2B: presentación de dos nuevos casos.

INTRODUCTION: Aicardi-Goutieres syndrome is a rare immune disorder due to mutations in seven different genes that encode proteins called TREX1, ribonuclease H2 complex, SAMHD1, ADAR and IDIH1 (MDA5), which are involved in acid nucleic metabolism. Two cases are described in detail below caused by RNASEH2B gene mutation, one of which displays a mutation no described to date. CASE REPORTS: Case 1: male consulting because from 5-month-old shows loss of maturity items acquired until then, coming with several fever episodes. Case 2: a 4-month-old boy showing since 2-month-old great irritability and oral-feeding trouble with severe psychomotor impairment. In both cases it was found an increase of pterines in the cerebrospinal fluid, mainly neopterine, with calcifications in the basal ganglia. The diagnosis was proved by sequencing RNASEH2B gene, founding in case 2 a new mutation not described previously. CONCLUSIONS: The reported cases belong to the description already done by Aicardi-Goutieres, it should be noticed this syndrome in a patient with a subacute encephalopathy of debut in the first year of life, dystonia/spasticity in variable degree and important affectation/regression of psychomotor development, particularly in those with increase of pterines (neopterine) in the cerebrospinal fluid and calcifications in the basal ganglia.

TITLE: Variaciones fenotipicas en el sindrome de Aicardi-Goutieres causado por mutaciones en el gen RNASEH2B: presentacion de dos nuevos casos.Introduccion. El sindrome de Aicardi-Goutieres es un trastorno inmunitario raro debido a mutaciones en siete genes que codifican proteinas llamadas TREX1, el complejo ribonucleasa H2, SAMHD1, ADAR e IFIH1 (MAD5), las cuales estan implicadas en el metabolismo de los acidos nucleicos. A continuacion se presentan dos nuevos casos por mutacion en el gen RNASEH2B, uno de los cuales presenta una mutacion no descrita hasta la fecha. Casos clinicos. Caso 1: varon que consulto porque desde los 5 meses, coincidiendo con cuadros febriles de repeticion, presentaba perdida de los items madurativos adquiridos hasta la fecha. Caso 2: niño de 4 meses que desde los 2 meses mostraba gran irritabilidad con dificultades en la alimentacion, asociado a un grave retraso psicomotor. En ambos casos se constato un aumento de las pterinas en el liquido cefalorraquideo, principalmente de la neopterina, con calcificaciones en los ganglios basales. El diagnostico se confirmo mediante secuenciacion del gen RNASEH2B; el caso 2 presentaba una mutacion no descrita en la literatura medica. Conclusiones. Los casos corresponden a la descripcion clasica realizada por Aicardi-Goutieres. Debe tenerse en cuenta este sindrome ante un paciente con un cuadro de encefalopatia subaguda de comienzo en el primer año de vida, distonia/espasticidad en grado variable e importante afectacion/regresion del desarrollo psicomotor, especialmente si asocia aumento de las pterinas (neopterina) en el liquido cefalorraquideo y calcificaciones en los ganglios basales.

Variaciones fenotípicas en el síndrome de Aicardi-Goutières causado por mutaciones en el genRNASEH2B: presentación de dos nuevos casos / Phenotypic variations in Aicardi-Goutières syndrome caused by RNASEH2B gene mutations: report of two new cases

Introducción. El síndrome de Aicardi-Goutières es un trastorno inmunitario raro debido a mutaciones en siete genes que codifican proteínas llamadas TREX1, el complejo ribonucleasa H2, SAMHD1, ADAR e IFIH1 (MAD5), las cuales están implicadas en el metabolismo de los ácidos nucleicos. A continuación se presentan dos nuevos casos por mutación en el gen RNASEH2B, uno de los cuales presenta una mutación no descrita hasta la fecha. Casos clínicos. Caso 1: varón que consultó porque desde los 5 meses, coincidiendo con cuadros febriles de repetición, presentaba pérdida de los ítems madurativos adquiridos hasta la fecha. Caso 2: niño de 4 meses que desde los 2 meses mostraba gran irritabilidad con dificultades en la alimentación, asociado a un grave retraso psicomotor. En ambos casos se constató un aumento de las pterinas en el líquido cefalorraquídeo, principalmente de la neopterina, con calcificaciones en los ganglios basales. El diagnóstico se confirmó mediante secuenciación del gen RNASEH2B; el caso 2 presentaba una mutación no descrita en la literatura médica. Conclusiones. Los casos corresponden a la descripción clásica realizada por Aicardi-Goutières. Debe tenerse en cuenta este síndrome ante un paciente con un cuadro de encefalopatía subaguda de comienzo en el primer año de vida, distonía/espasticidad en grado variable e importante afectación/regresión del desarrollo psicomotor, especialmente si asocia aumento de las pterinas (neopterina) en el líquido cefalorraquídeo y calcificaciones en los ganglios basales (AU)

Introduction. Aicardi-Goutières syndrome is a rare immune disorder due to mutations in seven different genes that encode proteins called TREX1, ribonuclease H2 complex, SAMHD1, ADAR and IDIH1 (MDA5), which are involved in acid nucleic metabolism. Two cases are described in detail below caused by RNASEH2B gene mutation, one of which displays a mutation no described to date. Case reports. Case 1: male consulting because from 5-month-old shows loss of maturity items acquired until then, coming with several fever episodes. Case 2: a 4-month-old boy showing since 2-month-old great irritability and oral-feeding trouble with severe psychomotor impairment. In both cases it was found an increase of pterines in the cerebrospinal fluid, mainly neopterine, with calcifications in the basal ganglia. The diagnosis was proved by sequencing RNASEH2B gene, founding in case 2 a new mutation not described previously. Conclusions. The reported cases belong to the description already done by Aicardi-Goutières, it should be noticed this syndrome in a patient with a subacute encephalopathy of debut in the first year of life, dystonia/spasticity in variable degree and important affectation/regression of psychomotor development, particularly in those with increase of pterines (neopterine) in the cerebrospinal fluid and calcifications in the basal ganglia (AU)

Síndrome de Jacobsen (deleción parcial 11q) asociado a trombocitosis: presentación de un caso y revisión de la literatura científica / Jacobsen syndrome (partial 11q deletion) associated to thrombocytosis: report of a case and literature review

Introducción: El síndrome de Jacobsen se debe a una deleción parcial del brazo largo del cromosoma 11. En un 85% de los casos, la deleción ocurre de novo. Los signos más comunes incluyen retraso en el crecimiento pre/posnatal, retraso psicomotor y malformaciones, así como una dismorfia facial característica. Con frecuencia, desde el nacimiento existe una función plaquetaria anormal, una trombocitopenia o una pancitopenia. Aproximadamente un 20% de los pacientes fallece durante los 2 primeros años de vida. Caso clínico: Recién nacida a término, sin antecedentes familiares de interés, que presenta un fenotipo peculiar (pabellones auriculares pequeños, de implantación baja, puente nasal ancho, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, boca «en carpa», microrretrognatia), fisura palatina, lesiones de aspecto petequial en tórax y muslo derecho, asociado a himen imperforado. Cariotipo 46,XX,del(11)(q14.1q23.3)dn, el estudio de ambos progenitores fue normal. Desde las 2 semanas de vida, la niña presentó una importante trombocitosis, con nula adquisición de los ítems madurativos. La paciente falleció a los 3 meses de vida, tras un accidente cerebrovascular hemorrágico espontáneo. Conclusiones: Las manifestaciones clínicas se relacionan con el tamaño de la deleción. Generalmente, el punto de rotura se localiza en 11q23.3. Entre las alteraciones hematológicas, la más frecuente es la trombopenia, aunque no fue así en esta paciente, que presentaba una trombocitosis. Esto parece deberse a que cuando la deleción afecta a la banda 11q24 se produce la pérdida del gen FLI-1, entre otros genes, que desempeñan un papel fundamental en la megacariopoyesis (AU)

Introduction: Jacobsen syndrome is due to partial deletion of the long arm of chromosome11. A de novo deletion occurs in 85% of cases. Most common signs include pre- and postnatal growth retardation, psychomotor delay, malformations and characteristic facial dysmorphism. Abnormal platelet function thrombocytopenia or pancytopenia are frequent from birth. Approximately, 20% of patients die during the first 2 years of life. Case report: Newborn female born at term, without any family history of congenital anomalies, presenting with peculiar phenotype (small and low-set ears, broad nasal bridge, hypertelorism, downslanting palpebral fissures, micro-retrognathia), carp-like mouth, cleft palate, petechial-like lesion in thorax and right thigh, associated to imperforate hymen. Karyotype 46,XX,del(11)(q14.1q23.3)dn, being normal for both her parents. Since the age of 2 weeks she had a marked thrombocytosis, with no acquisition of developmental milestones. The patient died at 3 months after a spontaneous hemorrhagic cerebral-vascular accident. Conclusions: Clinical manifestations of the syndrome are related to the size of the deletion. Generally, the breakpoint is located at 11q23.3. Among the hematological alterations the most frequent one is thrombopenia, unlike our patient, who had thrombocytosis. This seems to be due to the loss of FLI-1, among other genes with a key role in megakaryopoiesis, when the deletion affects the band 11q24 (AU)

Cirugía trans-oral robótica para manejo de cáncer de orofaringe / Trans-oral robotic surgery for tongue cancer

Background: The traditional treatment of oropharyngeal cancer was based mainly in radio and chemotherapy, aiming to avoid organ excisions. However, the adverse effects of these therapies prompted the development of new therapies. Among these, trans-oral robotic surgery (TORS) has promising results. Case reports: We report two patients operated using this technique. An 82 years old woman treated for a tumor in the base of the tongue six years ago with radiotherapy. A new lesion in the tongue was found and excised by TORS uneventfully. The pathology report confirmed the complete excision of the malignant lesion. A 57 years old male with a history of palate cancer treated with radiotherapy in 1990. In 2013 a submandibular mass was biopsied confirming the presence of a squamous carcinoma metastasis. During a bilateral suprahyoid dissection, a tumor in the base of the tongue was found. In a second intervention the tumor was excised by TORS. The pathology reports tumor free borders but near the lesion. Postoperative radiotherapy was recommended.

Introducción: El cáncer de orofaringe representa una importante causa de morbimortalidad en la esfera de las patologías de cabeza y cuello en la actualidad. Su tratamiento tradicional por mucho tiempo consideró la conservación de órganos, utilizando mayoritariamente la radio y quimioterapia como herramientas terapéuticas. Los efectos no deseados tanto de las terapias médicas como las quirúrgicas han obligado a desarrollar técnicas nuevas para el manejo de estas enfermedades. Es así que a partir del año 2006 se ha ido desarrollando a nivel mundial la técnica de cirugía robótica transoral (TORS). La morbilidad y resultados oncológicos de este procedimiento hasta ahora se ven alentadores, por lo que se está transformando en una alternativa terapéutica que debemos manejar. Casos clínicos: Se presentan los dos primeros casos a nivel país realizados en esta institución de cánceres de orofaringe tratados con la técnica tradicional y después de largo tiempo recidivados. Se les realizó cirugía resectiva de sus tumores a través de TORS; se describen los resultados de estos procedimientos.

Ictericia secundaria a una deficiencia de glucosa 6-fosfato deshidrogenasa / Secondary jaundice to deficiency of glucose-6-phosphate dehydrogenase

Presentamos el caso de un varón de 7 años de edad, remitido a nuestra consulta para su valoración por un cuadro de ictericia mucocutánea. Las analíticas orientan hacia una anemia hemolítica y, tras interrogar a la familia, se concreta que el cuadro había comenzado a las 24 horas de la ingesta de habas, por lo que se orienta el cuadro como un probable déficit de glucosa 6-fosfato deshidrogenasa (D-G6PD), confirmándose posteriormente. Se inicia tratamiento de soporte. Las cifras más bajas de hemoglobina y hematocrito se detectan al cuarto día tras la ingesta del agente desencadenante, permaneciendo el paciente prácticamente asintomático. Las cifras analíticas se normalizan completamente a los 14 días del inicio del cuadro. En este caso se detectó la coexistencia de D-G6PD con otra eritropatía, G6PD/HbS (anemia de células falciformes), asociación que ya ha sido descrita en otros trabajos anteriormente. Al alta hospitalaria se proporcionó al paciente una lista de fármacos y alimentos con efecto oxidante, así como asesoramiento genético. Asimismo, nos parece importante resaltar la importancia de excluir la coexistencia de D-G6PD con otras eritropatía (AU)

We describe the case of a seven year old male patient, who was sent to study because of recient jaundice, with final diagnosis hemolitic anemia, beginning up to 24 hours to have consumed beans, and that’s why the initial diagnosis was glucose 6 phosphate dehydrogenase deficiency (G6PD), being confirmed later. Lower numbers of haemoglobin and hematocrito appears on fourth day, remaining practically asymptomatic. Analytical normalized to 14 days. We diagnose also coexistence of G6PD with other erythropathy G6PG/HbS. The patient received the list of food and drugs potentially harmful and genetic counselling. We want to stand out the importance of reject the coexistence with another erythropathy (AU)

Sediment toxicity and bioaccumulation assessment in abandoned copper and mercury mining areas of the Nalón River basin (Spain).

Sediment toxicity and metal bioaccumulation were assessed at sites affected by historical copper (Cu) and mercury (Hg) mining activities in the Nalón River basin, Asturias, Spain. Toxicity assessment of stream sediments was based on a 28-day oligochaete Tubifex tubifex sediment bioassay, which allowed the classification of sites into three levels of toxicity: 11 sites were classified as nontoxic (including Cu mine sites), three sites as potentially toxic, and seven sites as toxic (all located in Hg mine districts). The greatest levels of arsenic (As), chromium, Hg, lead (Pb), and zinc (Zn) in T. tubifex were measured at sites affected by Hg mining and the highest Cu levels in tissues at Cu mining sites. Chronic toxicity responses were best explained by As and Hg sediment concentrations and by As, Pb, and Zn tissue residues. Residue levels of As, Hg, Zn, and Pb were successfully used to predict sediment chronic toxicity and estimate effective tissue residues.

Punción con aguja fina en tumores de glándulas salivales / Fine needle aspiration in salivary gland tumors

Los estudios por imagen permiten diagnosticar y categorizar un tumor de glándula salival (GS). La punción con aguja fina (PAAF) es una herramienta diagnóstica. El ultrasonido (US) permite visualizar el tumor y guiar la aguja de PAAF. Objetivos: Describir la técnica de PAAF. Revisión retrospectiva de los resultados de PAAF bajo US en tumor de GS. Se analizaron 39 pacientes enviados a PAAF en 5 años. Resultados: 31 lesiones parotídeas y 8 submaxilares. 87 por ciento se presentaron como nódulo hipoecogénico y 69 por ciento con refuerzo posterior. Resultado cito-histológico de 36 PAAF realizadas: 29 lesiones benignas, 6 lesiones malignas, 1 punción frustra. No hubo complicaciones. 21 pacientes operados. Concordancia histológica 85 por ciento . No hubo falsos positivos para cáncer. En conclusión, PAAF bajo US es una herramienta diagnóstica en los tumores de GS.

Imaging studies allow the diagnosis and classification of a salivary gland (SG) tumor. Fine needle aspiration (FNA) is a diagnostic tool. Ultrasound (US) allows the visualization of the tumor and guidance of the needle in FNA. Objectives: To describe the FNA technique. A retrospective review of the results of ultrasound guided FNA in a SG tumor. 39 patients referred for FNA in 5 years, were analyzed. Results: 31 parotid and 8 submaxillary lesions. 87% presented as hypoechoic nodule and 69% with posterior acoustic enhancement. Cyto-histological results of 36 FNA performed: 29 benign lesions, 6 malignant lesions, one failed puncture. There were no complications. 21 operated patients. Histological concordance was 85%. There were no false positives for cancer. In conclusion, FNA using ultrasound is a diagnostic tool in GS tumors.