A pleural ultrasound image of a collapsed lung surrounded by pleural fluid ("jellyfish sign") may correspond to an intrapericardial mass.

Lung ultrasound has been shown to be a valuable diagnostic tool. It has become the main way to get to the diagnosis of pleural effusion with much more specificity and sensibility than the x-ray. The diagnosis of pleural effusion with ultrasound is easily obtained after the visualization of hypoechoic fluid surrounding the lung. Sometimes it appears as an image of a collapsed lung moving with the surrounded pleural fluid ("jellyfish sign"). Until now this sign was almost pathognomonic of pleural effusion, but we explore a case in which this sign could have led to a misleading diagnosis. We present the case of a child admitted to intensive care with respiratory distress. In the point of care lung ultrasound we believed to see a pleural effusion with a collapsed lung moving into the effusion. Due to the enlargement of the pericardial sac, we did not realize that what we thought to be the pleural space was in fact the pericardial space. Unfortunately, there was a more echogenic area inside the pericardial effusion which led to a misleading fake lung atelectasis with pleural effusion ("jellyfish sign"). The correct diagnosis was properly obtained after assessing a cardiac point of care ultrasound using a four chambers view. The left side of the thorax is more difficult to be sonographed than the right due to the presence of the heart fossa that occupies a significant part of that side. Obtaining the diagnosis of pleural effusion on that side is more difficult for this reason and can sometimes be misleading with a pericardial effusion. The presence of the "jellyfish sign" is not pathognomonic and may lead to an error if we are guided only by the presence of that sign. To avoid such a misleading diagnosis, we highly recommend performing a point of care cardiac ultrasound if a pleural effusion is primarily seen in the lung ultrasound.

[Diagnostic approach of pheochromocytomas and paragangliomas]. / Enfoque diagnóstico de feocromocitomas y paragangliomas.

Pheochromocytomas and paragangliomas are rare neuroendocrine tumours associated with high morbidity and mortality. Recognizing the clinical presentation is the first step for diagnosis. Biochemical studies may determine an excess of catecholamines and their metabolites. However, the available tests offer varying diagnosis precision. Computed tomography and magnetic resonance are highly sensitive for locating these tumours. Functional tests are reserved for when metastatic and multifocal disease are suspected. One third of the patients have a germline mutation and many genes are involved in the development of these tumours.

Validation of a multiplex qPCR assay for the identification and quantification of Aggregatibacter actinomycetemcomitans and Porphyromonas gingivalis: In vitro and subgingival plaque samples.

OBJECTIVE: To validate a multiplex qPCR (m-qPCR) assay for the simultaneous identification and quantification of Aggregatibacter actinomycetemcomitans and Porphyromonas gingivalis in subgingival samples. MATERIAL AND METHODS: In vitro samples: DNA combinations of A. actinomycetemcomitans and P. gingivalis in similar or different concentrations were prepared. qPCR and m-qPCR were performed using the same primers and hydrolysis probes specific for 16SrRNA genes. Results were analyzed using intra-class (ICCs) and Lin's correlation coefficients (r) based on quantification cycle (Cq) values. Subgingival plaque samples: a cross-sectional study analyzing subgingival plaque samples harvested from periodontally-healthy and chronic periodontitis patients. Samples were processed by either qPCR or m-qPCR targeting both bacteria. Sensitivity, specificity, predictive values and Lins correlation coefficients (r) were calculated using CFU/mL as primary outcome. RESULTS: In vitro samples: m-qPCR yielded a good reproducibility (coefficients of variation around 1% and ICCs > 0.99) for both bacterial species. m-qPCR achieved detection limits and specificity similar to qPCR. An excellent concordance (r = 0.99) was observed between m-qPCR and qPCR for A. actinomycetemcomitans and P. gingivalis without statistical significant differences between both methods Subgingival plaque samples: a high sensitivity (above 80%) and specificity (100%) was obtained with the m-qPCR for both bacteria. The m-qPCR yielded a good concordance in Cq values, showing a good level of agreement between qPCR and m-qPCR. CONCLUSION: The tested m-qPCR method was successful in the simultaneous quantification of A. actinomycetemcomitans and P. gingivalis, with a high degree of sensitivity and specificity on subgingival plaque samples.

Health literacy interventions for immigrant populations: a systematic review.

BACKGROUND: Health literacy is considered a social health determinant that influences improvement in health, patient empowerment and reduction in inequalities. There is a lack of health literacy interventions for vulnerable social groups (i.e. immigrants), and nurses have shown little familiarity with the concept. AIM: This study aimed to identify and analyse whether interventions directed at immigrant populations improve the functional (basic reading, writing and arithmetic skills), interactive (social and cognitive skills) and critical (advanced cognitive and social skills in critically analyzing information and making informed decisions) dimensions of health literacy, taking into account the role played by nursing in these interventions. METHODS: A systematic review of four databases including PubMed, PsycINFO, the Cochrane Library and ERIC was conducted to identify relevant articles published between 2000 and 2015. Thirty-four articles met the inclusion criteria, and nine articles used a validated instrument. RESULTS: Few specific health literacy interventions for immigrant populations were found. The main findings of the studies showed positive changes in functional health literacy. However, the interventions were less effective in improving interactive and critical health literacy. LIMITATIONS: Several of the findings of this review were based on studies that had their own limitations. The assessment of the articles was not blinded, and the review was restricted to articles written in Spanish and English. CONCLUSIONS: The interventions studied were reported as being effective in improving health literacy in immigrants, particularly the functional aspects. Regarding the role played by nursing, this review observed little involvement. IMPLICATIONS FOR NURSING AND HEALTH POLICY: It is important for educational strategies to include health literacy dimensions. The concept of health literacy should be included as a Nursing Outcomes Classification and in its subsequent validation taxonomy. To promote community health, health literacy must be a prioritized objective of health management and policies.

UVER and UV index at high altitude in Northwestern Argentina.

Measurements of ultraviolet erythemal radiation (UVER) made during two years at three sites located at altitudes over 1000ma.s.l. in Northwestern Argentina (Salta, San Carlos, and El Rosal) have been used to estimate and analyze the UV Index (UVI) and the cumulative doses at these locations. For the UVER irradiance, data of January (maximum values) and June (minimum values) have been analyzed as representative of the year for all locations. The UVI reaches extreme (>11) values in >20% of the analyzed days in Salta (1190ma.s.l.), while these are reached in San Carlos (1611ma.s.l.) and El Rosal (3355ma.s.l.) in >40% of the analyzed days. Finally, the cumulative doses over an average year have also been studied for each location. The doses received during austral summer and autumn are of the same order, and represent one third of the annual dose, while the doses received during austral winter and spring represent one sixth of the annual dose approximately.

Comparison of the detection of periodontal pathogens in bacteraemia after tooth brushing by culture and molecular techniques.

BACKGROUND: The prevalence and amounts of periodontal pathogens detected in bacteraemia samples after tooth brushing-induced by means of four diagnostic technique, three based on culture and one in a molecular-based technique, have been compared in this study. MATERIAL AND METHODS: Blood samples were collected from thirty-six subjects with different periodontal status (17 were healthy, 10 with gingivitis and 9 with periodontitis) at baseline and 2 minutes after tooth brushing. Each sample was analyzed by three culture-based methods [direct anaerobic culturing (DAC), hemo-culture (BACTEC), and lysis-centrifugation (LC)] and one molecular-based technique [quantitative polymerase chain reaction (qPCR)]. With culture any bacterial isolate was detected and quantified, while with qPCR only Porphyromonas gingivalis and Aggregatibacter actinomycetemcomitans were detected and quantified. Descriptive analyses, ANOVA and Chi-squared tests, were performed. RESULTS: Neither BACTEC nor qPCR detected any type of bacteria in the blood samples. Only LC (2.7%) and DAC (8.3%) detected bacteraemia, although not in the same patients. Fusobacterium nucleatum was the most frequently detected bacterial species. CONCLUSIONS: The disparity in the results when the same samples were analyzed with four different microbiological detection methods highlights the need for a proper validation of the methodology to detect periodontal pathogens in bacteraemia samples, mainly when the presence of periodontal pathogens in blood samples after tooth brushing was very seldom.

Molecular identification of black-pigmented bacteria from subgingival samples of cats suffering from periodontal disease.

OBJECTIVES: To characterise the black-pigmented bacterial species found in the subgingival samples of cats with periodontal disease using molecular-based microbiological techniques. METHODS: Sixty-five subgingival samples obtained from 50 cats with periodontal disease were analysed by polymerase chain reaction amplified ribosomal DNA restriction analysis and cloning and sequencing of the 16S rRNA genes. RESULTS: Among the 65 subgingival samples, eight phylogenetic profiles were obtained, of which the most prevalent species were: Porphyromonas gulae (40%), P. gingivalis/P. gulae (36 · 9%), P. gulae/Porphyromonas sp. UQD 406 (9 · 2%), Odoribacter denticanis (6 · 2%), P. gulae/Porphyromonas sp. UQD 348 (1 · 5%) and P. circumdentaria (1 · 5%). When compared with the species resulting from biochemical diagnosis, the identification of P. gulae was congruent in 70% of the cases, while colonies identified as P. intermedia-like corresponded in 80% of cases to P. gulae. CLINICAL SIGNIFICANCE: The use of molecular-based microbiological diagnostic techniques resulted in a predominance of Porphyromonas spp. in the subgingival plaque of cats suffering from periodontal disease. Further characterisation of these bacteria identified P. gulae, O. denticanis and P. circumdentaria. The more frequently detected phylogenetic profiles corresponded to P. gingivalis and P. gulae.

Assessing pulmonary hypertensive vascular disease in childhood. Data from the Spanish registry.

RATIONALE: There is a lack of knowledge regarding the epidemiology, clinical characterization, and survival in pediatric pulmonary hypertension. OBJECTIVES: To describe the epidemiology, outcomes, and risk factors for mortality in pediatric pulmonary hypertension in Spain. METHODS: We analyzed data from the Spanish Registry for Pediatric Pulmonary Hypertension. From January 2009 to June 2012, a total of 225 patients diagnosed with pulmonary hypertension in 1998 or after were collected from 21 referral and nonreferral centers. We included all Nice etiologies, estimated incidence and prevalence of pulmonary hypertension in the Spanish pediatric population, and analyzed risk factors for mortality (Nice etiologic group, clinical and hemodynamic variables). Patients were classified as follows: group I, pulmonary arterial hypertension (n = 142; 61%); group II, left heart disease (n = 31; 14%); group III, respiratory disease (n = 41; 18%); group IV, thromboembolic pulmonary hypertension (n = 2; 1%); or group V, mostly inherited metabolic diseases (n = 10; 4.5%). Of the patients studied, 31% had multifactorial pulmonary hypertension. MEASUREMENTS AND MAIN RESULTS: Mean age at diagnosis was 4.3 ± 4.9 years (50% < 2 yr). Survival rates at 1 and 3 years were 80 and 74% for the whole cohort, and 89 and 85% for patients with pulmonary arterial hypertension. Independent risk factors for mortality included an etiologic group other than pulmonary arterial hypertension (P < 0.001), age at diagnosis younger than 2 years old (P < 0.001), advanced functional class at diagnosis (P < 0.001), and high right atrial pressure at diagnosis (P = 0.002). CONCLUSIONS: In moderate to severe pediatric pulmonary hypertension, the prognosis is better in pulmonary arterial hypertension than in other Nice categories. In pediatric pulmonary hypertension age at diagnosis younger than 2 years is a risk factor for mortality, in addition to the previously established risk factors.

An in vitro biofilm model associated to dental implants: structural and quantitative analysis of in vitro biofilm formation on different dental implant surfaces.

OBJECTIVES: The impact of implant surfaces in dental biofilm development is presently unknown. The aim of this investigation was to assess in vitro the development of a complex biofilm model on titanium and zirconium implant surfaces, and to compare it with the same biofilm formed on hydroxyapatite surface. METHODS: Six standard reference strains were used to develop an in vitro biofilm over sterile titanium, zirconium and hydroxyapatite discs, coated with saliva within the wells of pre-sterilized polystyrene tissue culture plates. The selected species used represent initial (Streptococcus oralis and Actinomyces naeslundii), early (Veillonella parvula), secondary (Fusobacterium nucleatum) and late colonizers (Porphyromonas gingivalis and Aggregatibacter actinomycetemcomitans). The developed biofilms (growth time 1 to 120h) were studied with confocal laser scanning microscopy using a vital fluorescence technique and with low-temperature scanning electron microscopy. The number (colony forming units/biofilm) and kinetics of the bacteria within the biofilm were studied with quantitative PCR (qPCR). As outcome variables, the biofilm thickness, the percentage of cell vitality and the number of bacteria were compared using the analysis of variance. RESULTS: The bacteria adhered and matured within the biofilm over the three surfaces with similar dynamics. Different surfaces, however, demonstrated differences both in the thickness, deposition of the extracellular polysaccharide matrix as well as in the organization of the bacterial cells. SIGNIFICANCE: While the formation and dynamics of an in vitro biofilm model was similar irrespective of the surface of inoculation (hydroxyapatite, titanium or zirconium), there were significant differences in regards to the biofilm thickness and three-dimensional structure.

Quantitative real-time PCR combined with propidium monoazide for the selective quantification of viable periodontal pathogens in an in vitro subgingival biofilm model.

BACKGROUND AND OBJECTIVES: Differentiation of live and dead cells is an important challenge when using molecular diagnosis for microbial identification. This is particularly relevant when bacteria have been exposed to antimicrobial agents. The objective of this study was to test a method using quantitative real-time polymerase chain reaction (qPCR) combined with propidium monoazide (PMA), developed for the selective quantification of viable P. gingivalis, A. actinomycetemcomitans, F. nucleatum and total bacteria in an in vitro biofilm model after antimicrobial treatment. MATERIAL AND METHODS: PMA-qPCR method was tested in an in vitro biofilm model, using isopropyl alcohol as the antimicrobial agent. Matured biofilms were exposed for 1, 5, 10 and 30 min to isopropyl alcohol by immersion. Biofilms were disrupted and PMA added (final concentration of 100 µm). After DNA isolation, qPCR was carried out using specific primers and probes for the target bacteria. The differentiation of live and dead cells was tested by analysis of variance. RESULTS: When PMA was used in the presence of viable target bacterial cells, no statistically significant inhibition of qPCR amplification was detected (p > 0.05 in all cases). Conversely, after immersion in isopropyl alcohol of the biofilm, PMA resulted in a significant total reduction of qPCR amplification of about 4 log10 . P. gingivalis showed a vitality reduction in the biofilm of 3 log10 , while A. actinomycetemcomitans and F. nucleatum showed a 2 log10 reduction. CONCLUSION: These results demonstrate the efficiency of PMA for differentiating viable and dead P. gingivalis, A. actinomycetemcomitans and F. nucleatum cells, as well as total bacteria, in an in vitro biofilm model, after being exposed to an antimicrobial agent. Hence, this PMA-qPCR method may be useful for studying the effect of antimicrobial agents aimed at oral biofilms.

Ten years of measured UV Index from the Spanish UVB Radiometric Network.

An analysis is made of the UV Index (UVI) obtained from the ultraviolet erythemal solar radiation (UVER) data measured by the Spanish UVB Radiometric Network between the years 2000 and 2009. Previously, the daily UVI has been evaluated using two different criteria: (a) the value corresponding to solar noon; and (b) the daily maximum value. The mean percentage of agreement is 92% if we consider the cases for which the difference is zero or one UVI unit. These results are similar to those obtained in a previous work where only 2 years were analyzed. In all the stations the UVI reaches very high values (8-10) in spring-summer, and the very high and extreme (≥ 11) UVI values are more dependent on the continental effect than on the latitude effect. From the UVI values it is possible to classify the stations into four groups: Coastal stations, Continental stations (more than 200 km from the coast), Southern stations (Coastal stations but with similar values of UVI as the Continental ones due to their low latitude) and Canary Islands stations (1400 km southwest from the Iberian Peninsula thus lower latitude). The monthly mean maximum of UVI is reached in July due to the annual evolution of the total ozone column. This value corresponds, for a skin phototype II, to three times the minimal erythemal dose (MED) in an hour in a Coastal station, 3.5 MEDs in an hour measured in a Continental or Southern station and up five MEDs in an hour in the Izaña station (Canary Islands). The cumulative dose on a horizontal plane over an average year has been calculated for each station. More than 40% of the annual dose is received in summer, about 35% in spring, more than 11% in autumn and less than 10% in winter except for the stations in the Canary Islands where the difference between seasons is less significant.

Analysis of viable vs. dead Aggregatibacter actinomycetemcomitans and Porphyromonas gingivalis using selective quantitative real-time PCR with propidium monoazide.

BACKGROUND AND OBJECTIVES: One of the major disadvantages of DNA-based microbial diagnostics is their inability to differentiate DNA between viable and dead microorganisms, which could be important when studying etiologically relevant pathogens. The aim of this investigation was to optimize a method for the selective detection and quantification of only viable Aggregatibacter actinomycetemcomitans and Porphyromonas gingivalis cells by combining quantitative real-time polymerase chain reaction (qPCR) and propidium monoazide (PMA). MATERIAL AND METHODS: Three different concentrations of PMA (10, 50 or 100 µm) were added to suspensions of 10(6) (CFU)/mL of viable/dead A. actinomycetemcomitans and P. gingivalis cells. After DNA isolation, qPCR was carried out using specific primers and probes for the tested bacteria. PMA was further tested with different mixtures containing varying ratios of viable and dead cells. The efficacy of PMA to detect viable/dead cells was tested by analysis of variance. RESULTS: For these specific bacterial pathogens, 100 µm PMA resulted in a significant reduction of qPCR amplification with dead cells (10(6) CFU/mL), while with viable cells no significant inhibition was detected. PMA was also effective in detecting selectively viable cells by qPCR detection, when mixtures of varying ratios of viable and dead bacteria were used. CONCLUSIONS: This study demonstrated the efficiency of PMA for differentiating viable and dead A. actinomycetemcomitans and P. gingivalis cells. This method of PMA-qPCR may be useful for monitoring new antimicrobial strategies and for assessing the pathogenic potential of A. actinomycetemcomitans and P. gingivalis in different oral conditions when using molecular diagnostic methods.

Modelling of the UV Index on vertical and 40° tilted planes for different orientations.

In this study, estimated data of the UV Index on vertical planes are presented for the latitude of Valencia, Spain. For that purpose, the UVER values have been generated on vertical planes by means of four different geometrical models a) isotropic, b) Perez, c) Gueymard, d) Muneer, based on values of the global horizontal UVER and the diffuse horizontal UVER, measured experimentally. The UVER values, obtained by any model, overestimate the experimental values for all orientations, with the exception of the Perez model for the East plane. The results show statistical values of the MAD parameter (Mean Absolute Deviation) between 10% and 25%, the Perez model being the one that obtained a lower MAD for all levels. As for the statistic RMSD parameter (Root Mean Square Deviation), the results show values between 17% and 32%, and again the Perez model provides the best results in all vertical planes. The difference between the estimated UV Index and the experimental UV Index, for vertical and 40° tilted planes, was also calculated. 40° is an angle close to the latitude of Burjassot, Valencia, (39.5°), which, according to various studies, is the optimum angle to capture maximum radiation on tilted planes. We conclude that the models provide a good estimate of the UV Index, as they coincide or differ in one unit compared to the experimental values in 99% of cases, and this is valid for all orientations. Finally, we examined the relation between the UV Index on vertical and 40° tilted planes, both the experimental and estimated by the Perez model, and the experimental UV Index on a horizontal plane at 12 GMT. Based on the results, we can conclude that it is possible to estimate with a good approximation the UV Index on vertical and 40° tilted planes in different directions on the basis of the experimental horizontal UVI value, thus justifying the interest of this study.

[Features information of the surgical process and patients' satisfaction]. / Características de la información en el proceso quirúrgico y satisfacción de los pacientes.

AIM: To explore the relationship between the perceived characteristics of the information that patients receive on the surgical procedure and their satisfaction. METHOD: Observational cross-sectional study, conducted by the use of surveys at the Virgen Macarena University Hospital (VMUH) of Seville, in July 2009. It involved 75 patients selected by convenience sampling. The ANOVA test was performed according to the assessed characteristics of the information in order to determine the differences in satisfaction. RESULTS: The value obtained in the satisfaction with the information of physicians and nurses are high. Nevertheless, 42, 5% had the impression of not being able to ask questions and 71, 4% were not asked for authorized relatives to be informed. When applying the ANOVA test, statistically significant differences were obtained for the satisfaction with the information received by the physicians, depending on having received it prior to surgery, and the privacy while receiving this information. On the other hand, the satisfaction with the information provided by nursing professionals is related to the supplying of information on discharge and further home care instructions.

Hipertensión pulmonar en Pediatría / Pulmonary hypertension in pediatrics

En la hipertensión pulmonar (HTP) en el niño podemos encontrar prácticamente cualquiera de las etiologías de la clasificación de la OMS y patologías específicas de la edad pediátrica, como la hipertensión pulmonar persistente del recién nacido, o la asociada a enfermedades metabólicas, aunque sin duda el grupo más numerosos lo constituye el de la hipertensión pulmonar asociada a cardiopatía congénita. Carecemos de clasificaciones, documentos de consenso y protocolos diagnósticos y terapéuticos específicos para la HTP pediátrica, a la que por defecto se aplican los protocolos creados para la enfermedad del adulto. Sin embargo, en los últimos años, se ha puesto de manifiesto que el espectro de la HTP en el niño es mucho más complejo y heterogéneo que en el adulto, siendo muy frecuente asociación de síndromes polimalformativos o cromosomopatías en los enfermos pediátricos con HTP. La publicación de registros de HTP pediátrica, como el de Suiza, Reino Unido, Holanda o Francia ha aportado información sobre la epidemiología de esta enfermedad en los niños, con prevalencia para la HTP idiopática en torno a 3,7 casos /millón de habitantes (similares a las reportadas en los adultos). La forma más frecuente de HTP en el niño es la asociada a cardiopatía congénita (tanto reparada como no reparada), que supone más de 50% de todas las series. También se han publicado interesantes revisiones sobre el diagnóstico, sobre los valores normales para el test de los 6 minutos en niños y marcadores biológicos como el ác. Úrico o el BNP, que han facilitado la estratificación del riesgo de los pacientes pediátricos con HTP. Se revisan los distintos protocolos de tratamiento de la hipertensión arterial en el niño (AU)

In pulmonary hypertension (PHT) in the child, we may find almost any one of the etiologies of the WHO classification and specific conditions of the pediatric age, such as persistent pulmonary hypertension of the newborn, or that associated to metabolid diseases, although undoubtedly the most numerous group is made up of those with pulmonary hypertension associated to congenital heart disease. We lack classifications, consensus documents, and diagnostic and therapeutic protocols specific for pediatric PHT, for which, the protocols created for the disease of the adults are applied. However, in recent years, it has become manifest that the spectrum of the PHT in the child is much more complex and heterogeneous than in the adult, cases with multifactorial etiologies are common in the pediatric pulmonary hypertension, and also the association of multiple congenital malformation syndromes or chromosomopathies in the pediatric patients with PHT. The publication of registries of pediatric PHT, as that of Switzerland, the United Kingdom, Holland, or France, have provided information on the epidemiology of this disease in children, with prevalence’s for idiopathic PHT at approximately 3.7 cases/million inhabitants (similar to those reported in the adult). The most frequent form of PHT in the child is that associated with congenital heart disease (bot repaired and not repaired), that accounts for more than 50% of all the series. Interesting reviews have also been published on the diagnosis, on the normal values for the 6-minute test in children, and biological markers such as that of uric acid or BNP, that have facilitated the stratification of risk of the pediatric patients with PHT. The different arterial hypertension treatment protocols in the child are reviewed (AU)

Síndrome de Rendu-Osler-Weber: causa infrecuente de hipoxemia en la infancia / Rendu-Osler-Weber syndrome: an rare cause of hypoxemia in children

La telangiectasia hemorrágica hereditaria (HHT) o síndrome de Rendu-Osler-Weber es una entidad de las consideradas como «enfermedades raras» (afecta a uno de cada 3.000–8.000 individuos) cuya herencia autosómica dominante va determinada por la alteración en la codificación de los genes endoglina (ENG) y activin like Kinase 1, (ALK1) que causan el tipo 1 y 2 respectivamente de la HHT y conducen a displasia en el endotelio de la pared vascular debido a haploinsuficiencia para endoglina. Esto da lugar a una serie de manifestaciones clínicas que consisten básicamente en epistaxis repetidas, telangiectasias mucocutáneas y malformaciones arteriovenosas (MAV) viscerales. A continuación se presenta el caso clínico de un niño de 11 años que desarrolló hipoxemia franca debido a múltiples fístulas arteriovenosas pulmonares (AU)

Hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber syndrome is a rare genetic autosomic dominant disorder with an estimated prevalence of one in 3000–5000 individuals. This multisystemic vascular dysplasia is determined by the mutation of two main genes which are endoglin (ENG) or HHT1 and ALK1 or HHT2. These mutations induce the vascular disorders which cause recurrent epistaxis and eventually multiple telangiectasias and arteriovenous visceral malformations (AVM).We report the case of an 11-year-old boy who developed severe hypoxaemia due to multiple pulmonary arteriovenous malformations (AU)

[Rendu-Osler-Weber syndrome: an rare cause of hypoxemia in children]. / Síndrome de Rendu-Osler-Weber: causa infrecuente de hipoxemia en la infancia.

Hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber syndrome is a rare genetic autosomic dominant disorder with an estimated prevalence of one in 3000-5000 individuals. This multisystemic vascular dysplasia is determined by the mutation of two main genes which are endoglin (ENG) or HHT1 and ALK1 or HHT2. These mutations induce the vascular disorders which cause recurrent epistaxis and eventually multiple telangiectasias and arteriovenous visceral malformations (AVM). We report the case of an 11-year-old boy who developed severe hypoxaemia due to multiple pulmonary arteriovenous malformations.

[Fatal poisoning by accidental inhalation of aluminium phosphide]. / Intoxicación letal por inhalación accidental de fosfuro alumínico.

The cases of two 6 and 9-year-old sisters with lethal poisoning by inhalation of aluminium phosphide, after its inadequate use in a rural environment, are described. The clinical symptoms consisted of sudden vomiting, cardiac arrhythmias, shock, dyspnea, pulmonary edema/acute respiratory distress, metabolic acidosis and hepatic dysfunction, and the patients died in spite of advanced life support. Although an early diagnosis might theoretically improve the poisoning outcome, its high lethality rate and the absence of a specific antidote, efforts must be directed towards prevention and restricting its use as pesticide and being aware of its toxicity.

Severe course of community-acquired pneumonia in an adult patient who is heterozygous for Q481P in the perforin gene: are carriers of the mutation free of risk?

Most cases of autosomal recessive hemophagocytic lymphohistiocytosis (HLH) are associated with over 50 mutations in the perforin gene. Some of these mutations have no clear functional association. Only homozygous patients display a full-blown syndrome, whereas no severe disease has been described in heterozygous carriers of these mutations despite the presence of functional and phenotypic alterations in cytotoxic cells. We study the family of a child who died from HLH at 6 months of age due to a Q481P mutation in the perforin gene. The study is particularly interesting because the patient's heterozygous father experienced severe community-acquired pneumonia that could be attributed to deficient in vitro NK cell activity despite normal perforin expression. This case report suggests that impaired NK cell activity in a heterozygote can result in poorer initial control of infections with severe clinical expression.