Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia.

The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia caused by homozygous or compound heterozygous mutations in the MBTPS1 gene. The MBTPS1 gene encodes a protein that is involved in the regulation of cholesterol and fatty acid metabolism. Mutations in MBTPS1 can lead to reduced levels of these lipids, which can have a number of effects on development, including skeletal anomalies, growth retardation, and elevated levels of blood lysosomal enzymes. This work reports the case of a 5-year-old girl with SEDKF. The patient had a severely short stature and a number of skeletal anomalies, including kyphosis, pectus carinatum, and reduced bone mineral density. She also had early onset cataracts and inguinal hernias. Genetic testing revealed two novel compound heterozygous variants in the MBTPS1 gene. These variants are predicted to disrupt the function of the MBTPS1 protein, which is consistent with the patient's clinical presentation. This case report adds to the growing body of evidence that mutations in the MBTPS1 gene are causal of SEDKF. We summarized the features of previous reported cases (with age ranges from 4 to 24 years) and identified that 80% had low stature, 70% low weight, 80% had bilateral cataracts and 70% showed Spondyloepiphyseal dysplasia on X-rays. The findings of this study suggest that SEDKF is a clinically heterogeneous disorder that can present with a variety of features. Further studies are needed to better understand the underlying mechanisms of SEDKF and to develop more effective treatments.

Fibrodysplasia ossificans progressiva in a 3-year-old female patient.

BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease affecting connective tissue, primarily caused by de novo mutations of the ACVR1 gene. FOP is a disease with congenital malformations of the toes and heterotopic ossification in characteristic patterns that progresses with flare-ups and remissions. Cumulative damage results in disability and, eventually, death. This report aimed to describe a case of FOP to highlight the importance of early diagnosis of this rare condition. CASE REPORT: We describe the case of a 3-year-old female diagnosed with congenital hallux valgus, who initially presented with soft tissue tumors, predominantly in the neck and chest, with partial remission. Multiple diagnostic tests were performed, including biopsies and magnetic resonance imaging, with nonspecific results. We observed ossification of the biceps brachii muscle during evolution. The molecular genetic study found a heterozygous ACVR1 gene mutation that confirmed FOP. CONCLUSIONS: Knowledge of this rare disease by pediatricians is critical for an early diagnosis and for avoiding unnecessary invasive procedures that may promote disease progression. In case of clinical suspicion, performing an early molecular study is suggested to detect ACVR1 gene mutations. The treatment of FOP is symptomatic and focused on maintaining physical function and family support.

INTRODUCCIÓN: La fibrodisplasia osificante progresiva (FOP) es una enfermedad autosómica dominante rara que afecta el tejido conectivo, cuya causa principal son mutaciones de novo del gen ACVR1. Se trata de una enfermedad con malformaciones congénitas de los primeros ortejos y osificación heterotópica en patrones característicos que progresa en empujes y remisiones. El daño acumulativo provoca discapacidad y, eventualmente, la muerte. El objetivo de este trabajo fue describir un caso de FOP para favorecer el diagnóstico precoz de esta enfermedad infrecuente. CASO CLÍNICO: Se describe el caso de una paciente de 3 años, portadora de hallux valgus congénito, que inicialmente presentó tumoraciones dolorosas de tejidos blandos, de predominio en cuello y tórax, con remisión parcial de las mismas. Se realizaron múltiples pruebas diagnósticas, incluyendo biopsias e imágenes de resonancia magnética con resultados inespecíficos. En la evolución se observó osificación de músculo bíceps braquial. El estudio genético molecular encontró una mutación del gen ACVR1 en heterocigosis que confirmó el diagnóstico de FOP. CONCLUSIONES: El conocimiento de esta enfermedad por los pediatras es clave para realizar un diagnóstico precoz y evitar procedimientos invasivos innecesarios que pueden promover la progresión de la enfermedad. Ante la sospecha clínica, se sugiere realizar tempranamente el estudio molecular para detectar mutaciones del gen ACVR1. El tratamiento de la FOP es sintomático, centrado en el mantenimiento de la función física y el apoyo familiar.

Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.

The SPATA5 gene encodes a 892 amino-acids long protein that has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Several studies have associated homozygous or compound heterozygous mutations in SPATA5 gene to microcephaly, intellectual disability, seizures and hearing loss. This suggests a role of the SPATA5 gene also in neuronal development. Recently, our group presented results validating the use of blood cells for the assessment of mitochondrial function for diagnosis and follow-up of mitochondrial disease, minimizing the need for invasive procedures such as muscle biopsy. In this study, we were able to diagnose a patient with epileptogenic encephalopathy using next generation sequencing. We found two novel compound heterozygous variants in SPATA5 that are most likely causative. To analyze the impact of SPATA5 mutations on mitochondrial functional studies directly on the patients' mononuclear cells and platelets were undertaken. Oxygen consumption rates in platelets and PBMCs were impaired in the patient when compared to a healthy control. Also, a decrease in mitochondrial mass was observed in the patient monocytes with respect to the control. This suggests a true pathogenic effect of the mutations in mitochondrial function, especially in energy production and possibly biogenesis, leading to the observed phenotype.

Relationships between Self-Efficacy, Job Instability, Decent Work, and Life Satisfaction in A Sample of Italian, Swiss, and Spanish Students.

Recent research has shown that self-efficacy has a positive relationship with life satisfaction and with the perception of access to decent work. On the other hand, a perception of instability regarding the profession is negatively correlated with these dimensions. Few authors have studied these constructs within the same research. Therefore, the aim of the study was to fill this gap in the literature by testing a structural equation model in which the perception of access to decent work could mediate between perceived self-efficacy in one's training and life satisfaction, and between perceived instability of the profession and life satisfaction. Data was collected through an online research survey. Five hundred and seventeen university students (104 males and 413 females) aged between 18 and 30 years (M = 22.50; ds = 2.61) from three different countries participated: 181 were Italian, 173 were Swiss, and 163 were Spanish. The results only partially confirmed our model. The idea of finding a decent work mediates the relationship between perceived job instability and life satisfaction, but not between self-efficacy and life satisfaction. Perceived self-efficacy together with the idea of finding a decent work have a direct effect on life satisfaction. In career development, counselors must take into account what the perception of job instability entails for students, which may be demotivating and not allow future workers to imagine a decent job.

Fibrodysplasia ossificans progressiva in a 3-year-old female patient / Fibrodisplasia osificante progresiva en una paciente de 3 años

Abstract Background: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease affecting connective tissue, primarily caused by de novo mutations of the ACVR1 gene. FOP is a disease with congenital malformations of the toes and heterotopic ossification in characteristic patterns that progresses with flare-ups and remissions. Cumulative damage results in disability and, eventually, death. This report aimed to describe a case of FOP to highlight the importance of early diagnosis of this rare condition. Case report: We describe the case of a 3-year-old female diagnosed with congenital hallux valgus, who initially presented with soft tissue tumors, predominantly in the neck and chest, with partial remission. Multiple diagnostic tests were performed, including biopsies and magnetic resonance imaging, with nonspecific results. We observed ossification of the biceps brachii muscle during evolution. The molecular genetic study found a heterozygous ACVR1 gene mutation that confirmed FOP. Conclusions: Knowledge of this rare disease by pediatricians is critical for an early diagnosis and for avoiding unnecessary invasive procedures that may promote disease progression. In case of clinical suspicion, performing an early molecular study is suggested to detect ACVR1 gene mutations. The treatment of FOP is symptomatic and focused on maintaining physical function and family support.

Resumen Introducción: La fibrodisplasia osificante progresiva (FOP) es una enfermedad autosómica dominante rara que afecta el tejido conectivo, cuya causa principal son mutaciones de novo del gen ACVR1. Se trata de una enfermedad con malformaciones congénitas de los primeros ortejos y osificación heterotópica en patrones característicos que progresa en empujes y remisiones. El daño acumulativo provoca discapacidad y, eventualmente, la muerte. El objetivo de este trabajo fue describir un caso de FOP para favorecer el diagnóstico precoz de esta enfermedad infrecuente. Caso clínico: Se describe el caso de una paciente de 3 años, portadora de hallux valgus congénito, que inicialmente presentó tumoraciones dolorosas de tejidos blandos, de predominio en cuello y tórax, con remisión parcial de las mismas. Se realizaron múltiples pruebas diagnósticas, incluyendo biopsias e imágenes de resonancia magnética con resultados inespecíficos. En la evolución se observó osificación de músculo bíceps braquial. El estudio genético molecular encontró una mutación del gen ACVR1 en heterocigosis que confirmó el diagnóstico de FOP. Conclusiones: El conocimiento de esta enfermedad por los pediatras es clave para realizar un diagnóstico precoz y evitar procedimientos invasivos innecesarios que pueden promover la progresión de la enfermedad. Ante la sospecha clínica, se sugiere realizar tempranamente el estudio molecular para detectar mutaciones del gen ACVR1. El tratamiento de la FOP es sintomático, centrado en el mantenimiento de la función física y el apoyo familiar.

Suspected adverse events following immunization against SARS-CoV2 in a university hospital in 2021: Observational study.

AIM: Vaccination against SARS-CoV2 has been proposed as a fundamental element for the control of the pandemic. This study aimed to describe the suspected adverse reactions (ADR) reported by vaccinated hospital workers. METHODS: A descriptive study of suspected ADR was conducted between January and March 2021. The suspected ADR were identified using a specifically designed electronic form and spontaneous reporting. Data were also collected regarding the characteristics of the professionals, vaccine administered, severity, and outcome of ADR. RESULTS: 8169 professionals received 2 doses of SARS-CoV2 vaccine (6672 Comirnaty® and 1497 Spikevax®) and 894 reports of suspected ADR were reported (762 for Comirnaty® and 132 for Spikevax®), resulting in a cumulative ADR incidence of 10.94% (95%CI: 10.27-11.62). The majority of ADR were reported only after the second dose, 497 (56.2%), while 211 (23.6%) were reported only after the first dose and 186 (21%) after both doses. The symptoms were mostly mild, did not require medical assistance, and disappeared within approximately 3 days. One hundred and seventeen professionals had a history of COVID-19 infection. These studies reported, statistically significant, more suspected ADR after the first dose (42.7%) than those with no history of COVID-19 (20.7%). Among professionals, more ADR occurred after the first dose with the Spikevax® vaccine (41.6%) than with the Comirnaty® vaccine (20.5%). CONCLUSION: The majority of suspected ADR reported were described in the summary of product characteristics (SmPC). Professionals with a history of COVID-19 reported more suspected ADR after the first dose than did those without a history.

"Laying bricks to build integrated career guidance plans": Best practices in vocational education and training in Andalusia, Spain.

Vocational Education and Training (VET) policies are paying increasing attention towards the need to develop quality career guidance processes. Career guidance plays an essential role in this challenge by enabling people to develop the career management skills that allow them to become aware of their full potential and to construct life projects that facilitate the emotional management of uncertainty and complexity, participating as responsible agents in their environment. After conducting a literature review on each of these key elements, we set out to identify best practices in VET as "building blocks" for the construction of an integrated career guidance plan in VET. This study adopts an approach based on qualitative methodology, specifically a documentary type of research has been carried out. The documents analysed correspond to 88 best practices identified in Andalusia (Spain). The analysis strategy used was a content analysis. For this purpose, a system of categories has been designed, from a deductive perspective, which has contributed to a systematic analysis of them. One of the first conclusions of the study is the uneven development o best practices in the different VET professional pathways. The practices carried out in the centres begin to incorporate different elements and thus facilitate the creation of a suitable context for the development of comprehensive career guidance plans in VET. The article closes by offering implications for the development of guidance in the education system (at VET level) and discusses lines of future research.

Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.

BACKGROUND: Lissencephaly (LIS) is a cortical malformation, characterized by smooth or nearly smooth cerebral surface and a shortage of gyral and sulcal development, which is caused by deficient neuronal migration during embryogenesis. Neuronal migration involves many gene products, among which is the product of the PAFAH1B1 gene, associated with this disease. LIS is a rare disease, characterized by low population frequency, and with non-specific clinical symptoms such as early epilepsy, developmental delay or cerebral palsy-like motor problems. Given that high-throughput sequencing techniques have been improving diagnosis, we have chosen this technique for addressing this patient. CASE PRESENTATION: We present the case of a seven years old male patient with an undiagnosed rare disease, with non-specific clinical symptoms possibly compatible with lissencephaly. The patient was enrolled in a study that included the sequencing of his whole genome. Sequence data was analyzed following a bioinformatic pipeline. The variants obtained were annotated and then subjected to different filters for prioritization. Also mitochondrial genome was analyzed. A novel candidate frameshift insertion in known PAFAH1B1 gene was found, explaining the index case phenotype. The assessment through in silico tools reported that it causes nonsense mediated mechanisms and that it is damaging with high confidence scores. The insertion causes a change in the reading frame, and produces a premature stop codon, severely affecting the protein function and probably the silencing of one allele. The healthy mother did not carry the mutation, and the unaffected father was not available for analysis. CONCLUSIONS: Through this work we found a novel de novo mutation in LIS1/PAFAH1B1 gene, as a likely cause of a rare disease in a young boy with non-specific clinical symptoms. The mutation found correlates with the phenotype studied since the loss of function in the gene product has already been described in this condition. Since there are no other variants in the PAFAH1B1 gene with low population frequency and due to family history, a de novo disease mechanism is proposed.

Effect of UV-C Irradiation and Lactic Acid Application on the Inactivation of Listeria monocytogenes and Lactic Acid Bacteria in Vacuum-Packaged Beef.

The objective of this study was to test the effect of the combined application of lactic acid (0-5%) (LA) and UV-C light (0-330 mJ/cm2) to reduce Listeria monocytogenes and lactic acid bacteria (LAB) on beef without major meat color (L *, a *, b *) change and its impact over time. A two-factor central composite design with five central points and response surface methodology (RSM) were used to optimize LA concentration and UV-C dose using 21 meat pieces (10 g) inoculated with L. monocytogenes (LM100A1). The optimal conditions were analyzed over 8 weeks. A quadratic model was obtained that predicted the L. monocytogenes log reduction in vacuum-packed beef treated with LA and UV-C. The maximum log reduction for L. monocytogenes (1.55 ± 0.41 log CFU/g) and LAB (1.55 ± 1.15 log CFU/g) with minimal impact on meat color was achieved with 2.6% LA and 330 mJ/cm2 UV-C. These conditions impaired L. monocytogenes growth and delayed LAB growth by 2 weeks in vacuum-packed meat samples throughout 8 weeks at 4 °C. This strategy might contribute to improving the safety and shelf life of vacuum-packed beef with a low impact on meat color.

Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.

BACKGROUND: Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a high impact on the quality of life and life expectancy of patients, which are in general children or young people. The advent of high-throughput sequencing techniques has improved diagnosis in several different areas, from pediatrics, achieving a diagnostic rate of 41% with whole genome sequencing (WGS) and 36% with whole exome sequencing, to neurology, achieving a diagnostic rate between 47 and 48.5% with WGS. This evidence has encouraged our group to pursue a molecular diagnosis using WGS for this and several other patients with rare diseases. RESULTS: We used whole genome sequencing to achieve a molecular diagnosis of a 7-year-old girl with a severe panvascular artery disease that remained for several years undiagnosed. We found a frameshift variant in one copy and a large deletion involving two exons in the other copy of a gene called YY1AP1. This gene is related to Grange syndrome, a recessive rare disease, whose symptoms include stenosis or occlusion of multiple arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities. Bioinformatic analyses propose these mutations as the most likely cause of the disease, according to its frequency, in silico predictors, conservation analyses, and effect on the protein product. Additionally, we confirmed one mutation in each parent, supporting a compound heterozygous status in the child. CONCLUSIONS: In general, we think that this finding can contribute to the use of whole genome sequencing as a diagnosis tool of rare diseases, and in particular, it can enhance the set of known mutations associated with different diseases.

Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.

BACKGROUND: The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of treatments. Next-generation sequencing techniques have improved the search for diagnosis in several pathologies. Many studies have shown that the use of whole-exome/genome sequencing in rare Mendelian diseases has a diagnostic yield between 30% and 50% depending on the disease. METHODS: Here, we present the case of an undiagnosed 6-year-old boy with severe encephalopathy of unclear cause, whose etiological diagnosis was achieved by whole-genome sequencing. RESULTS: We found a novel variant that has not been previously reported in patients nor it has been described in GnomAD. Segregation analysis supports a de novo mutation, since it is not present in healthy parents. The change is predicted to be harmful to protein function, since it falls in the first quarter of the protein producing an altered reading frame and generating a premature stop codon. Additionally, the variant is classified as pathogenic according to ACMG criteria (PVS1, PM2, and PP3). Furthermore, there are several reported frameshift mutations in nearby codons as well as nonsense mutations that are predicted as pathogenic in other studies. CONCLUSION: We found a novel de novo frameshift mutation in the PURA gene (MIM number 600473), c.151_161del, with sufficient evidence of its pathogenicity.

Evaluación del estado nutricional de yodo en una población de embarazadas / Assessment of iodine nutritional status in a pregnant women population

Introducción: el déficit de yodo en embarazadas puede perjudicar la salud de la madre y del recién nacido, está relacionado con diversas complicaciones obstétricas como abortos espontáneos, muertes fetales, anomalías congénitas, aumento de la mortalidad perinatal y el cretinismo. La Organización Mundial de la Salud (OMS) establece que el déficit de yodo sigue siendo la principal causa global evitable tanto de retraso mental como de parálisis cerebral, y afecta en grado variable el desarrollo y bienestar de millones de personas en el mundo. Las embarazadas constituyen una población vulnerable, con altos requerimientos de yodo. No se han realizado estudios en embarazadas en Uruguay luego de la yodación universal de la sal (1999). Objetivo principal: evaluar el estado nutricional de yodo en una población de embarazadas. Objetivo secundario: obtener una impresión cualitativa de las posibles fuentes de yodo nutricionales en esta población. Material y método: se realizó una encuesta nutricional específicamente confeccionada y se recolectaron muestras de la primera orina de la mañana para determinar yoduria en mujeres embarazadas independientemente del trimestre. Se consideró deficiencia de yodo para esta población una excreción urinaria media por debajo de 150 ?g/l (OMS, 2007). Resultados: se analizaron 96 muestras de orina. La mediana de la excreción urinaria media de yodo para esta población fue de 182 ?g/l, considerándose en rango de normalidad para las embarazadas valores entre 150 y 249 ?g/l. Conclusiones: este estudio ha confirmado que la excreción urinaria de yodo en la orina está en el rango adecuado a lo establecido por la OMS.

Abstract Introduction: iodine deficit in pregnant women may have a negative effect on the mother and the newborn, and it is associated to several obstetric complications such as spontaneous abortion, fetal death, congenital anomalies, increase of perinatal mortality and cretinism. The World Health Organization (WHO) establishes that iodine deficit is still the main global avoidable cause for mental retardation and brain palsy, and it affects the development and wellbeing of millions of people around the world at different levels. Pregnant women are a vulnerable population with high requirements. No studies in the pregnant women population have been conducted in Uruguay after the universal salt iodation in 1999. Main objective: assessment of iodine nutritional condition in a pregnant women population Secondary objective: to obtain a qualitative impression of the possible sources of nutritional iodine in this population. Methods: a specially prepared nutritional survey was conducted and first morning urine samples were collected to determine ioduria in pregnant women, regardless of the trimester. In this population, iodine deficiency was defined for this population when urine excretion was below 150 ?g/l (WHO, 2007). Results: ninety six urine samples were analysed. Median of the average urinary excretion for this population was 182 ?g/l, normal rates being between 150 and 249 ?g/l. Conclusions: the study confirmed iodine urinary excretion lies within the adequate range established by the WHO.

Resumo Introdução: a deficiência de iodo em gestantes pode prejudicar a saúde da mãe e do recém-nascido e está relacionado com diversas complicações obstétricas como abortos espontâneos, mortes fetais, anomalias congénitas, aumento da mortalidade perinatal e também com o cretinismo. A Organização Mundial da Saúde (OMS) declarou que a deficiência de iodo continua sendo a principal causa global evitável tanto de retraso mental como de paralisia cerebral, e que afeta, em diferentes graus, o desenvolvimento e o bem-estar de milhões de pessoas no mundo. As gestantes são uma população vulnerável com altos requerimentos. No Uruguay, desde 1999 quando começou a iodetação universal do sal, não são realizados estudos em gestantes. Objetivo principal: avaliar o estado nutricional de iodo em uma população de gestantes. Objetivo secundário: obter uma relação qualitativa das possíveis fontes nutricionais de iodo nesta população. Material e métodos: realizou-se um inquérito nutricional e foram coletadas amostras da primeira urina da manhã para determinar iodúria em gestantes em qualquer trimestre da gravidez. Nesta população considerou-se deficiência de iodo uma excreção urinaria média inferior a 150 ?g/l (OMS, 2007). Resultados: foram analisadas 96 amostras de urina. A mediana da excreção urinaria media de iodo nesta população foi de 182 ?g/l, considerando como normais valores entre 150 e 249 ?g/l. Conclusões: este estudo confirmou que a excreção urinaria de iodo está compreendida no intervalo considerado adequado de acordo com o estabelecido pela OMS.

Electroestimulación muscular selectiva utilizada en el tratamiento kinésico de pacientes con parálisis facial periférica aguda y crónica / Selective muscular electrostimulation used in the kinetic treatment of patients with acute and chronic peripheral facial paralysis

Se presentan dos casos de pacientes con parálisis facial periférica aguda y crónica respectivamente, en los que se utilizó el mismo tratamiento kinésico basado en electroestimulación muscular selectiva combinado con masoterapia y reeducación de músculos faciales. Ambos pacientes recuperaron las funciones básicas de oclusión básica de ojos y boca como así también mímica y simetría facial. En el caso del paciente con parálisis facial aguda, se obtuvieron resultados funcionales en menor número de sesiones. El inicio precoz del tratamiento kinésico podría ser considerado como un factor que favorecería la pronta recuperación del paciente. No se registraron efectos no esperados con el uso de corrientes eléctricas para la recuperación del trofismo de los músculos faciales

Guía para la prevención y control de la tuberculosis en el personal sanitario / Guidelines for the prevention and control of tuberculosis in health care workers

La tuberculosis continúa siendo una de las enfermedades transmisibles causantes de mayor morbimortalidad en el mundo. España con una tasa de incidencia de 13,04 por 100.000 habitantes ocupa el tercer lugar entre los países europeos más afectados. Estos datos muestran una tendencia a su disminución, pudiendo pasar desapercibida y hacer que no se realicen las medidas de prevención adecuadas ante un enfermo sospechoso. El personal sanitario que trabaja en un centro donde se atiende a pacientes con tuberculosis presenta riesgo de transmisión, siendo este riesgo superior en determinadas áreas o unidades de trabajo. Desde los Servicios de Prevención de Riesgos Laborales, encargados de vigilar la salud de los trabajadores sanitarios, se elaboran diferentes estrategias de abordaje con el objetivo de evitar la infección en estos trabajadores y detectar la infección tuberculosa reciente. Las guías nacionales existentes hasta la actualidad incluyen la prueba de la tuberculina como prueba de cribado de la infección tuberculosa, con referencia a las nuevas pruebas diagnósticas basadas en la detección in vitro de interferón-gamma (IGRA) para determinados casos. El objetivo de la presente guía ha sido consensuar y establecer unos criterios comunes para incluir las pruebas IGRA, como una ayuda complementaria a la prueba de la tuberculina en el personal sanitario, a partir de la evidencia disponible en la actualidad. Las recomendaciones de su utilización se han adaptado a las diferentes situaciones en que se pueden encontrar los profesionales que participan en la vigilancia de la salud de los trabajadores sanitarios (AU)

Tuberculosis remains one of the communicable diseases that cause increased morbidity and mortality worldwide. With an incidence rate of 13,04 per 100,000 population, Spain ranks third among the most affected European countries. These data show a tendency to decrease meaning that it may go unnoticed with the potential to miss the appropriate preventive measures in a suspected case. In centers where patients are treated with tuberculosis, health care worker presents risk of transmission. This risk is higher in some areas or work units. The Occupational health physicians’ services, which monitorize the health of health care workers, use different strategies in order to prevent and detect tuberculosis infection. The national guidelines include the tuberculin skin test as a screening test for tuberculosis infection with mention of new diagnostic tests based on the in vitro detection of gamma interferon (IGRA) for certain cases. The purpose of this guide is to establish common criteria for IGRA tests, as a supplementary aid to the tuberculin skin test in health care workers, from the evidence available today. Recommendations for its use have been adapted to the different situations faced by the professionals involved in monitoring the health of health workers (AU)

[Guidelines for the prevention and control of tuberculosis in health care workers]. / Guía para la prevención y control de la tuberculosis en el personal sanitario.

Tuberculosis remains one of the communicable diseases that cause increased morbidity and mortality worldwide. With an incidence rate of 13,04 per 100,000 population, Spain ranks third among the most affected European countries. These data show a tendency to decrease meaning that it may go unnoticed with the potential to miss the appropriate preventive measures in a suspected case. In centers where patients are treated with tuberculosis, health care worker presents risk of transmission. This risk is higher in some areas or work units. The Occupational health physicians' services, which monitorize the health of health care workers, use different strategies in order to prevent and detect tuberculosis infection. The national guidelines include the tuberculin skin test as a screening test for tuberculosis infection with mention of new diagnostic tests based on the in vitro detection of gamma interferon (IGRA) for certain cases. The purpose of this guide is to establish common criteria for IGRA tests, as a supplementary aid to the tuberculin skin test in health care workers, from the evidence available today. Recommendations for its use have been adapted to the different situations faced by the professionals involved in monitoring the health of health workers.

Manifestaciones sistémicas del dengue / Systemic manifestations of dengue

Introducción: el dengue es una infección que puede afectar múltiples órganos.Objetivo: determinar la afectación multisistémica por dengue. Metodología: estudio observacional, descriptivo, prospectivo realizado en sujetos adultos con dengue grave con signos de alarma internados en el Hospital Nacional entre diciembre 2012 y mayo 2013. La infección debía estar confirmada con antígeno NS1 y/o serología IgM (+). Resultados: se encontró 10,1% de hepatitis, 85,6% de transaminitis, 48% con relación CPKmb/CPK total >5%, 22,5% de alteraciones electrocardiográficas, 70,4% con proteinuria de 24 hs elevada y 9,3% con proteinuria en rango nefrótico. Conclusiones: la afectación multisistémica es frecuente, generalmente pasa desapercibida y en general es autolimitada aunque se requieren más estudios para evaluar la evolución a largo plazo en estos casos.

Introduction: dengue is an infection that could affect multiple organs. Objective: to determine the multisystem involvement of dengue. Methodology: observational, descriptive, prospective study conducted in adult subjects with severe and warning signs of dengue admitted to the National Hospital between December 2012 and May 2013. Infection should be confirmed with NS1 antigen and / or IgM serology (+). Results: we found 10.1% of hepatitis, 85.6% of transaminitis the relation CPKmb / total CPK > 5% in 48%, electrocardiographic alterations in 22.5%, elevated proteinuria in 70.4% and nephrotic proteinuria in 9.3%. Conclusions: multisystemic involvement is frecuent, usually asymptomatic and generally self-limited although more studies are needed to evaluate the long-term outcome in these cases.

Toxicidad aguda de precursores de compuestos con actividad hormonal tratados mediante sistemas biológicos

El objetivo del trabajo fué evaluar la toxicidad aguda de un efluente proveniente de la industria de celulosa, tratado mediante laguna aireada, lodo activado y precursores de compuestos con actividad hormonal (fitoesteroles)

Toxicidad aguda de precursores de compuestos con actividad hormonal tratados mediante sistemas biológicos

El objetivo del trabajo fué evaluar la toxicidad aguda de un efluente proveniente de la industria de celulosa, tratado mediante laguna aireada, lodo activado y precursores de compuestos con actividad hormonal (fitoesteroles)

Tratamiento de eritrocitosis post transplante renal con enalapril, descripción de 13 casos y revisión de la literatura / Treatment of post renal transplant erythrocytosis with enalapril, description of 13 cases and review of the literature

Introducción: La eritrocitosis post transplante renal, definida por un hematocrito mayor de 51 por ciento en dos o más mediciones, es una complicación frecuente en pacientes sometidos a transplante renal. En ella, el enalapril ha demostrado ser un tratamiento efectivo. Objetivo: evaluar la eficacia y seguridad del enalapril en el manejo de la eritrocitosis post transplante renal en el Departamento de Nefrología del hospital San Juan de Dios. Material y Métodos: se revisaron las fichas de 13 pacientes transplantados entre Enero de 1998 y Marzo de 2006 en los que se diagnóstico eritrocitosis post transplante y en tratamiento actual con enalapril, evaluándose: hematocrito, presión arterial y efectos colaterales del tratamiento a lo largo del tiempo. Resultados: el hematocrito promedio pre tratamiento fue de 52,2 por ciento y a las ocho semanas de iniciada la terapia disminuyó a 47,5 por ciento, manteniéndose en el tiempo. La función renal, medida por creatininemia promedio, pre tratamiento fue de 1,43 mg*/dl a las ocho semanas de tratamiento fue de 1,44 mg/dl, continuando sin variaciones significativas durante el seguimiento. La presión arterial media promedio de los pacientes fue de 108 mmHg previo al inicio de la administración de enalapril y a las ocho semanas de tratamiento fue de 105 mmHg. Conclusiones: este estudio confirma las publicaciones anteriores acerca de la eficacia del enalapril en el manejo de la eritrocitosis post-transplante pero se necesita mantener un control permanente de los enfermos en tratamiento para garantizar la seguridad de la terapia.