Design of structured H∞ flight controllers: Passive fault-tolerant versus observer-based structures.

This article presents the structured H∞ design and validation of two types of flight controller architectures: a passive fault-tolerant controller for the longitudinal motion and an active observer-based fault-tolerant controller for the lateral-directional motion. In the first, the controller follows the conventional Stability/Control Augmentation System (SCAS) structure, and its gains are obtained in continuous-time with the hinfstruct command by considering a set of elevator Loss-Of-Efficiency (LOE) faults. For the second, the conventional Luenberger observer-based controller structure is used, and the design aims to monitor the health of the aileron and rudder actuators in addition to provide active tolerance against LOE faults. Two different discrete-time designs are obtained for the latter, one focused on control performance optimization (using also the hinfstruct command), and the other on simultaneous control and observer performance optimization (using the systune command and under a slightly relaxed control performance constraint). For the two types of architectures, unmodeled dynamics are represented by uncertain bounded time delays modeled as pure delays or first-order Padé approximations. The resulting controllers are implemented on-board JAXA's research airplane MuPAL-α, and not only is their practicality demonstrated but also control performance is validated via Aircraft-In-the-Loop (AIL) testing under gust-free and realistic gusty conditions. This demonstration is at a Technological Readiness Level (TRL) of 7-8, resulting in a high-level of confidence in the validity of the proposed flight control structures.

Short-term complications and post-acute sequelae in hospitalized paediatric patients with COVID-19 and obesity: A multicenter cohort study.

BACKGROUND: Obesity increases the severity of coronavirus disease 2019 illness in adults. The role of obesity in short-term complications and post-acute sequelae in children is not well defined. OBJECTIVE: To evaluate the relationship between obesity and short-term complications and post-acute sequelae of SARS-CoV-2 infection in hospitalized paediatric patients. METHODS: An observational study was conducted in three tertiary hospitals, including paediatric hospitalized patients with a confirmatory SARS-CoV-2 RT-PCR from March 2020 to December 2021. Obesity was defined according to WHO 2006 (0-2 years) and CDC 2000 (2-20 years) growth references. Short-term outcomes were intensive care unit admission, ventilatory support, superinfections, acute kidney injury, and mortality. Neurological, respiratory, and cardiological symptoms and/or delayed or long-term complications beyond 4 weeks from the onset of symptoms were considered as post-acute sequalae. Adjusted linear, logistic regression and generalized estimating equations models were performed. RESULTS: A total of 216 individuals were included, and 67 (31.02%) of them had obesity. Obesity was associated with intensive care unit admission (aOR = 5.63, CI95% 2.90-10.94), oxygen requirement (aOR = 2.77, CI95% 1.36-5.63), non-invasive ventilatory support (aOR = 6.81, CI95% 2.11-22.04), overall superinfections (aOR = 3.02 CI95% 1.45-6.31), and suspected bacterial pneumonia (aOR = 3.00 CI95% 1.44-6.23). For post-acute sequalae, obesity was associated with dyspnea (aOR = 9.91 CI95% 1.92-51.10) and muscle weakness (aOR = 20.04 CI95% 2.50-160.65). CONCLUSIONS: In paediatric hospitalized patients with COVID-19, severe short-term outcomes and post-acute sequelae are associated with obesity. Recognizing obesity as a key comorbidity is essential to develop targeted strategies for prevention of COVID-19 complications in children.

Repercusión de la pandemia por SARS-COV-2 sobre las consultas en los Servicios de Emergencia Pediátrica en Uruguay / Consequences of the SARS-COV-2 pandemic on Pediatric Emergency Services in Uruguay / Repercussão da pandemia de SARS-COV-2 nas consultas nos Serviços de Emergência Pediátrica do Uruguai

En marzo de 2020 se confirma el primer caso de enfermedad por coronavirus en Uruguay, recomendándose un confinamiento social. La atención sanitaria se redujo a servicios de urgencia y emergencia (SE). Objetivo: analizar las características de las consultas pediátricas en los SE del subsector público y privado en Uruguay, durante los primeros 4 meses de la pandemia por SARS-CoV-2. Metodología: estudio descriptivo, retrospectivo, multicéntrico. Resultados: participaron 23 SE de todas las regiones del país. Período 1 prepandemia: 14/03/19-29.07.19, período 2: 14/03/20-29/07/20 Consultas: período 1 n=121.116, período 2 n=33.099 (desciende 73%). Hospitalizaciones desde el SE: período 1 n= .6649 (tasa 5,5%). Período 2: n=2.948 (tasa 9,5%). Diagnósticos período 1: infección respiratoria aguda (IRA) alta 39.892 (33%), IRA baja 86.56 (7%), trauma menor 8.651 (7%), gastroenteritis 8.044 (6,6%), crisis asmática/CBO 7.974 (6,5%), lesiones 4.389 (3,6%), dolor abdominal 3.528 (3%), problemas de salud mental 859 (0,7%), convulsiones 758 (0,7%), patología social 678 (0,5%). Diagnósticos 2020: IRA alta 5.168 (16%), trauma menor 2.759 (8%), lesiones 2.652 (8%), dolor abdominal 1.494 (4,5%), gastroenteritis 1.296 (4%), asma/CBO 1.095 (3,3%), IRA baja 700 (2,1%), patología social 522 (1,6%), problemas de salud mental 471 (1,4%), convulsiones 408 (1,2%). Conclusiones: en los primeros meses de la pandemia hubo una reducción sostenida y significativo de consultas pediátricas en los SE. No hubo aumento en frecuencia absoluta de ninguno de los diagnósticos. Se registró un descenso histórico de las IRA bajas y las hospitalizaciones por esta causa en todo el país. Mantener una vigilancia de las consultas en los SE permitiría identificar e intervenir oportunamente si se produjeran cambios o situaciones de riesgo hasta el momento no detectadas.

In March 2020 the first case of coronavirus disease was confirmed in Uruguay, and lockdown was recommended. Health care services were reduced to Urgency and Emergency Services (ES). Objectives: to analyze the epidemiological characteristics of pediatric visits to the ES of the public and private subsector in Uruguay, during the first 4 months of the SARS-CoV-2 pandemic. Methods: descriptive, retrospective. Results: 23 institutions participated. 2 periods were considered: 1) pre-pandemic, 03/14/19 to 07/29/19, 2) 03/14/20 to 07/29/20. Visits: period 1: n=121,116 (< 15 years), period 2: n=33.099 (73% decrease). Hospital admissions: period 1: n=6,649 (rate 5.5). Period 2: n=2.948 (rate 9,5). Diagnoses period 1: High acute respiratory infection 39,892 (33%), low acute respiratory infection 8,656 (7%), minor trauma 8,651 (7%), gastroenteritis 8,044 (6,6%), asthmatic crisis/CBO 7.974 (6,5%), injuries 4,389 (3,6%), abdominal pain (3,528) 3%, mental health problems 859 (0.7%), seizures 758 (0.7%), social pathology 678 (0.5% ). 2020 diagnoses: high acute respiratory infection 5.168 (16%), minor trauma 2,759 (8%), injuries 2,652 (8%), abdominal pain 1,494 (4.5%), gastroenteritis 1,296 (4%), asthma/CBO 1,095 (3,3%), low acute respiratory infection 700 (2,1%), social pathology 522 (1,6%), mental health problems 471 (1,4%), seizures 408 (1,2%). Conclusions: in the first months of the pandemic there was a sustained and significant reduction in pediatric consultations in ES. There was no increase in absolute frequency of any of the diagnoses. There was a historical decrease in low respiratory infections and hospitalizations due to this cause in the whole country. Maintaining a surveillance of the visits in the ES would enable practitioners to identify and take action in case of changes or previously undetected risk situations.

Em março de 2020, foi confirmado o primeiro caso de doença por coronavírus no Uruguai, recomendando o confinamento. A assistência à saúde foi reduzida a serviços de urgência e emergência (SE). Objetivo: analisar as características das consultas pediátricas no SE do subsetor público e privado no Uruguai, durante os primeiros 4 meses da pandemia de SARS-CoV-2. Metodologia: estudo descritivo, retrospectivo, multicêntrico. Resultados: participaram 23 SEs de todas as regiões do país. Período pré-pandemia 1: 14/03/19-29/07/19, período 2: 14/03/20-29/07/20 Consultas: período 1 n=121.116, período 2 n=33.099 (redução de 73%) . Internações da SE: período 1 n= 0,6649 (taxa 5,5%). Período 2: n=2.948 (taxa de 9,5%). Diagnósticos do período 1: infecção respiratória aguda alta (IRA) 39.892 (33%), LRA baixa 86,56 (7%), trauma menor 8.651 (7%), gastroenterite 8.044 (6,6%), crise asmática/CBO 7.974 (6, 5% ), lesões 4.389 (3,6%), dor abdominal 3.528 (3%), problemas de saúde mental 859 (0,7%), convulsões 758 (0,7%), patologia social 678 (0,5%). Diagnósticos 2020: IRA alta 5.168 (16%), trauma leve 2.759 (8%), lesões 2.652 (8%), dor abdominal 1.494 (4,5%), gastroenterite 1.296 (4%), asma/CBO 1.095 (3, 3%), IRA baixa 700 (2,1%), patologia social 522 (1,6%), problemas de saúde mental 471 (1,4%), convulsões 408 (1,2%). Conclusões: nos primeiros meses da pandemia houve uma redução sustentada e significativa das consultas pediátricas no SE. Não houve aumento na frequência absoluta de nenhum dos diagnósticos. Foi registrado um decréscimo histórico de IRAs baixas e internações por essa causa em todo o país. A manutenção de uma vigilância das consultas no SE permitiria identificar e intervir atempadamente nos casos de alterações ou situações de risco que até agora não tinham sido detectadas.

Caso Clínico: Neurofibromatosis Tipo 1, resolución quirúrgica / Case Report: Neurofibromatos Type 1, Surgical Management

INTRODUCCIÓN: La neurofibromatosis tipo 1(NF1) descrita por primera vez por von Recklinghausen en 1884, es una enfermedad de transmisión genética autosómica dominante, causada por un espectro de mutaciones en el gen NF-1, de evolución impredecible, que afecta múltiples órganos y sistemas, como la piel y el sistema nervioso, afectando también el desarrollo infantil y al estado neurocognitivo. Representa para el médico la toma de decisiones de manejo a menudo complejas, que requieren un enfoque multidisciplinario. CASO CLÍNICO: Paciente femenino de 9 años de edad, con antecedente de neurofibromatosis tipo 1. Presenta masa en región cervical anterior, que ocupa además el hemitórax izquierdo, comprimiendo el mediastino anterior, la tráquea del lado izquierdo, el corazón, el pulmón izquierdo; la masa produce sintomatología: disnea, disfagia y dolor, por lo que se programa intervención quirúrgica para exéresis del tumor. Se realizó cervico-esternotomía- toracotomía izquierda, se extirpó masa de 12 x 7 cm, ubicada a nivel de cayado aórtico, íntimamente adherida a la columna vertebral cervico-torácica. EVOLUCIÓN: Durante el acto quirúrgico la paciente tuvo un sangrado cuantioso, proveniente de arteria colateral de carótida común izquierda, por lo que se decidió empaquetar para resolución posterior, 24 horas después se desempaquetó, logrando control del sangrado tras el procedimiento. Los resultados de anatomía patología establecieron que la masa fue un neurofibroma. El seguimiento posterior determinó mejoría de la sintomatología, sin complicaciones quirúrgicas tardías. CONCLUSIÓN: La Neurofibromatosis es una patología congénita, poco frecuente y de complejo manejo. Aunque no existe tratamiento definitivo para la neurofibromatosis tipo 1, se puede realizar un manejo integral para mejorar la calidad de vida del paciente. Los tumores pueden extirparse mediante cirugía, aunque a menudo vuelven a crecer.(au)

BACKGROUND: Neurofibromatosis type 1, first described by von Recklinghausen in 1884, is an autosomal dominant genetically transmitted disease, caused by a spectrum of mutations in the NF-1 gen, with unpredictable evolution, that affects multiple organs and systems, such as the skin and the nervous system, also affecting child development and neurocognitive functions. It often requires complex management decisions from the physician that involve a multidisciplinary approach. CASE REPORTS: 9 year old female patient with a history of type 1 neurofibromatosis. She presented with a mass located in the anterior cervical region, occupying also the left hemithorax, compressing the anterior mediastinum, the trachea from its left side, the heart, and the left lung; the mass produced symptoms: dyspnea, dysphagia and pain, so surgical excision of the mass was scheduled. A left cervical-sternotomy-thoracotomy was performed, a 12 x 7cm mass, located at aortic arch level, closely adhered to the cervical-thoracic spine, was excised. EVOLUTION: During the surgical procedure, the patient had profuse bleeding, coming form the left common carotid colateral artery, so abdominal packing was performed, for later resolution. 24 hours later, bleeding control was achieved after the surgical re-intervention. The pathology lab results established that the mass was in fact a neurofibroma. Subsequent follow-up determined symptoms improvement, without late surgical complications. CONCLUSIONS: Neurofibromatosis is a congenital infrequent, disease, with a complex treatment. Although there is no definitive treatment for type 1 neurofibromatosis, comprehensive management can be achieved to improve the patient's quality of life. Tumors can be surgically removed, although they often grow back.(au)

Evolution of Polyphenolic Compounds and Sensory Properties of Wines Obtained from Grenache Grapes Treated by Pulsed Electric Fields during Aging in Bottles and in Oak Barrels.

The evolution of polyphenolic compounds and sensory properties of wines obtained from Grenache grapes, either untreated or treated with pulsed electric fields (PEF), in the course of bottle aging, as well as during oak aging followed by bottle aging, were compared. Immediately prior to aging in bottles or in barrels, enological parameters that depend on phenolic extraction during skin maceration were higher when grapes had been treated with PEF. In terms of color intensity, phenolic families, and individual phenols, the wine obtained with grapes treated by PEF followed an evolution similar to untreated control wine in the course of aging. Sensory analysis revealed that the application of a PEF treatment resulted in wines that are sensorially different: panelists preferred wines obtained from grapes treated with PEF. Physicochemical and sensory analyses showed that grapes treated with PEF are suitable for obtaining wines that require aging in bottles or in oak barrels.

Estudio Descriptivo: Experiencia en el Manejo Quirúrgico del Cáncer de Pene en el Servicio de Urología del Instituto Oncológico Nacional Dr. Juan Tanca Marengo. Enero del 2010 a Diciembre del 2015. Guayaquil ­ Ecuador / Descriptive Research: Experience in the Surgical Management of Penile Cancer in the Urology Department of the National Oncological Institute Dr. Juan Tanca Marengo. January 2010 to December 2015. Guayaquil - Ecuador

INTRODUCCIÓN: El cáncer de pene en todo el mundo tiene una incidencia del 0.51- 8.3 por 100 000 varones. Su tratamiento puede ser quirúrgico, conservador o radical, con tratamiento adyuvante radioterapia y quimioterapia. Los objetivos fueron determinar histológicamente el tipo de cáncer de pene más común, el lugar de afectación, y el tratamiento quirúrgico más empleado. MÉTODOS: Es un estudio descriptivo, retrospectivo realizado en el Instituto Oncológico Nacional Dr. Juan Tanca Marengo, en el período de enero del 2010 a diciembre del 2015. Se incluyó a los pacientes con diagnóstico histopatológico de cáncer de pene; las variables estudiadas fueron edad, localización, presencia de ganglios, histopatología, recidiva, metástasis y cirugía realizada; se obtuvo la media y desviación estándar. Para el análisis estadístico se utilizó Excel 2016 y SPSS. RESULTADOS: Los pacientes estudiados fueron 58 con cáncer de pene; se evidenció, en relación a la edad se obtuvo una media de 59 años y desviación estándar +/-14.74. La lesión se localizó con mayor frecuencia en el glande 41 %, seguido de una afectación total del pene con un 38 %; en el caso de los ganglios fueron palpables en 24 pacientes. El tipo histológico más frecuente fue el carcinoma epidermoide 67 %. El tratamiento más empleado fue la penectomía subtotal en el 62 %. CONCLUSIONES: Se determinó que el carcinoma epidermoide fue el tipo histológico más prevalente, localizándose principalmente en el glande; la técnica más empleada fue penectomía subtotal. Se recomienda acudir precozmente cuando se evidencia una lesión a nivel del pene, el tratamiento precoz de estas lesiones mejoran el pronóstico del paciente.

BACKGROUND: Penis cancer worldwide has an incidence of 0.51- 8.3 per 100 000 males. It is treatment can be surgical, conservative or radical, with adjuvant treatment radiotherapy and chemotherapy. The objectives were: to determine histologically the most common type of penile cancer, the place of involvement, and the most used surgical treatment. METHODS: It is a descriptive, retrospective study realized in Dr. Juan Tanca Marengo National Oncological Institute, between the periods of January 2010 to December 2015. Patients with a histopathological diagnosis of penile cancer were included; the variables studied were age, location, presence of lymph nodes, histopathology, recurrence, metastasis and surgery performed; the mean and standard deviation were obtained. For the statistical analysis Excel 2016 and SPSS were used. RESULTS: The patients studied were 58 with penile cancer; it was evidenced, in relation to age, an average of 59 years and standard deviation was obtained +/- 14.74. The lesion was located more frequently in the glans 41 %, followed by a total involvement of the penis with 38 %; in the case of the nodes they were palpable in 24 patients. The most frequent histological type was squamous cell carcinoma 67 %. The most used treatment was subtotal penectomy in 62 % CONCLUSIONS: It was determined that squamous cell carcinoma was the most prevalent histological type, being located mainly in the glans; the technique most used was subtotal penectomy. It is recommended to pay attention early when there is evidence of a lesion at the level of the penis, the early treatment of these lesions improves the patient's prognosis.

Tumor Carcinoide del Pulmón. Resección en Man-Guito. Primer Caso Realizado en el Hospital Vicente Corral Moscoso. Cuenca / Carcinoid Tumor of the Lung. Man-Guito Resection. First case performed at the Vicente Corral Moscoso Hospital. Basin

El cáncer de pulmón es un tumor frecuente y con alta mortalidad en países desarrolla-dos; en el tratamiento existen nuevas técnicas como la lobectomía más resección en manguito con anastomosis bronquial, que ha disminuido la mortalidad hasta en un 95% de los casos, este es un procedimiento oncológi-camente válido y a la vez comparable a una neumonectomía pero con un menor impacto funcional a nivel pulmonar; vale recalcar que es uno de los procedimientos de elección en el caso de neoplasias de los bronquios o en ocasiones de traumatismos que obstruyen los bronquios con pocos casos reportados sobre el uso de esta técnica a nivel mundial. De he-cho es la primera resección en manguito rea-lizada en el Hospital Vicente Corral Moscoso. Se presenta el caso de una paciente con presencia de una masa tumoral que causa obstrucción de la luz bronquial del pulmón derecho, diagnosticada hace dos años me-diante fibrobroncoscopía flexible por lo cual procede a ser intervenida quirúrgicamente para desobstruir la vía aérea; se realizó una lobectomía más resección en manguito, apo-yados en la literatura acerca de la validez del procedimiento realizado como cirugía oncológica, los riesgos quirúrgicos existentes y los efectos en la fisiología pulmonar.

Lung cancer is the most common tumor that causes increased mortality in developed countries, in the treatment there are new techniques such as the Lobectomy and sleeve resection with bronchial anastomosis, this technique has reduced the mortality by 95% of cases. This is an oncologically valid procedure and it is also comparable to a pneumonectomy but with a lower functional impact in the lungs; it ́s necessary to emphasize that this is one of the election procedures in the case of tumors of the bronchi or trauma sometimes obstructing the bronchi with few cases reported about using of this technique worldwide. In fact it is the first sleeve resection performed at the Vicente Corral Moscoso Hospital.The case of a patient with presence of a tumor mass obstructing the bronchial lumen of right lung is presented, it was diagnosed two years ago with flexible fibro-bronchoscopy so it proceed with surgery to unblock the airway, A lobectomy more sleeve resection was performed; supported in the literature about the validity of the procedure performed as cancer surgery, the surgical risks, and physiological effects on lung function.

Manejo del trauma de tórax y características demográficas, Hospital Vicente Corral Moscoso. Cuenca ­ Ecuador / Management of thorax trauma and demographic characteristics, Hospital Vicente Corral Moscoso. Cuenca-Ecuador

Objetivo: Analizar el manejo del trauma de tórax en el Hospital Vicente Corral Moscoso y describir las características demográficas de la población estudiada.Método: Estudio descriptivo retrospectivo, la muestra fue de 167 pacientes atendidos en el servicio de Emergencia del Hospital Vicente Corral Moscoso, con diagnóstico de trauma de tórax, durante el periodo enero de 2013 a junio de 2015; los datos se obtuvieron de las historias clínicas. Se analizaron las variables de datos demográficos y tratamiento, utilizando frecuencias, porcentajes y chi cuadrado. Se empleó el programa SPSS versión 18, Excel 2010.Resultados: La edad promedio fue de 37 años, con mayor frecuencia en varones con el 84.4%. Los diagnósticos fueron: hemotórax 36.53%, neumotórax 25.75%, hemoneumotórax 27.54%. El 4.8% de los pacientes recibió tratamiento no quirúrgico, el 82.6% avena-miento pleural; al 12.6% se practicó toraco-tomías al ingreso. Al 19.8% se realizó toracotomía durante la estancia hospitalaria debido a complicaciones como el hemotórax coagulado o residual. La mortalidad fue del 5.4% (9 pacientes), 7 presentaron lesiones extra to-rácicas. Conclusiones: El trauma de tórax se presen-tó en alto porcentaje en la tercera década de vida y se resolvió mayormente con avenamiento pleural. Las lesiones extra torácicas incrementan la mortalidad y necesitan un manejo multidisciplinario

Objective: To analyze the management of chest trauma at the Vicente Corral Moscoso Hospital and describe the demographic cha-racteristics of the population studied.Method: It is a retrospective, descriptive study, the sample was 167 patients treated in the Emergency service at the Vicente Corral Moscoso Hospital, who were diagnosed with thoracic trauma during the period January 2013 to June 2015; Data were obtained from medical records. Demographic variables and treatment data were analyzed using frequen-cies, percentages and chi square. The SPSS program, version 18, and Excel 2010 were used.Results: The average age was 37 years, with high frequency in men 84.4%. The diagnoses were: 36.53% hemothorax, pneumothorax 25.75%, and 27.54% hemopneumothorax. The 4.8% of patients received nonsurgical treat-ment, 82.6% pleural drainage; a 12.6% tho-racotomy was performed at the moment to arrive. The 19.8% thoracotomy was performed during hospital stay due to complications such as coagulated or residual hemothorax. The mortality was 5.4% (9 patients), 7 had ex-tra-thoracic injuries. Conclusions: Chest trauma occurs in high percentage in the third decade of life and it mostly was resolved with pleural drainage. Extra thoracic injuries increase mortality and need a multidisciplinary approach.

Estenosis esofagica. aplicación de una técnica quirúrgica. caso clínico / Esophageal stenosis. application of a surgical technique. clinical case

Se presenta el caso clínico de un paciente que presenta estenosis esofágica tras ingesta de caústicos, con disfagia a líquidos por lo que se realizó esofagectomía transhiatal con técnica de tubo gástrico como alterna-tiva para reemplazo esofágico con ascenso mediastinal y yeyunostomía de alimentación, luego del procedimiento presenta fístula a nivel de la anastomosis proximal cervical y derrame pleural que se drena mediante avenamiento pleural bilateral, se maneja de manera conservadora sin desfuncionalización la fistula cervical mediante dren semirígido, con cierre espontaneo y se da de alta al paciente luego de tolerar dieta.

The clinical case of a patient with esophageal stenosis after caustic ingestion is presented with dysphagia to liquids, so a transhiatal esophagectomy was performed with gastric tube technique alternatively for esophageal replacement mediastinal rise and feeding jejunostomy. After the procedure, it has a fistula in the proximal anastomosis cervical level and a pleural effusion is drained through bilateral pleural drainage. It is managed conservatively without disfunctionalization of the cervical fistula by semi-rigid drain with spontaneous closure and the patient is discharged after tolerated diet.

Seevolution: visualizing chromosome evolution.

SUMMARY: Genome evolution underpins all of biology, yet its principles can be difficult to communicate to the non-specialist. To facilitate broader understanding of genome evolution, we have designed an interactive 3D environment that enables visualization of diverse genome evolution processes. The system can intuitively and interactively animate mutation histories involving genome rearrangement, point mutation, recombination, insertion and deletion. Multiple organisms related by a phylogeny can be visualized simultaneously. As methods to infer evolutionary histories of genomes become increasingly complex, visualization of the evolutionary process will not only be useful for communication, but will also serve as an exploratory tool for discovering new patterns of genome evolution. AVAILABILITY: The software is licensed under the GNU GPL and available for download from http://seevolution.org.

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications.

Despite the significance of haploinsufficiency in human disease, no systematic study has been reported into the types of genes that are haploinsufficient in human, or into the mechanisms that commonly lead to their deletion and to the expression of the haploinsufficient phenotype. We have applied a rigorous text-searching and database-mining strategy to extract, as comprehensively as possible, from PubMed and OMIM an annotated list of currently known human haploinsufficient genes, including their functions and associated diseases. Gene-set enrichment analysis shows that genes-encoding transcription factors, and genes that function in development, the cell cycle, and nucleic acid metabolism are overrepresented among haploinsufficient genes in human. Many of the phenotypes associated with loss-of-function or deletion of one copy of a haploinsufficient gene describe mental retardation, developmental or metabolic disorders, or tumourigenesis. We also found that haploinsufficient genes are less likely than the complete set of human genes to be situated between pairs of segmental duplications (SDs) that are in close proximity to each other on the same chromosome. Given that SDs can initiate non-allelic homologous recombination (NAHR) and the deletion of adjacent genomic regions, this suggests that the location of haploinsufficient genes between SD pairs, from whence they may suffer intra-genomic rearrangement and loss, is selectively disadvantageous. We describe a custom-made Java visualization tool, HaploGeneMapper, to aid in visualizing the proximity of human haploinsufficient genes to SDs and to enable identification of haploinsufficient genes that are vulnerable to NAHR-mediated deletion.

Prevalencia de positividad en la serología para enfermedad de Chagas en el banco de sangre: su correlación con datos demográficos y su posible utilidad epidemiológica / Prevalence of seroactivity to Trypanosoma Cruzi (Chagas' disease) in blood banks. Correlation with demographic data and possible epidemiological utility

La enfermedad de Chagas es una de las endemias más importantes de América Latina. Los datos muestran que en América Central y del Sur el número de personas afectadas llega a 17 millones. En la República Argentina la prevalencia general de la enfermedad fue disminuyendo en el transcurso de los años. Analizando datos serológicos de encuestas realizadas en Argentina a más de un millón de varones de 18 a 20 años se estimó en el año 1969 una prevalencia general del 10 por ciento, del 5,8 por ciento en 1981 y 1,9 por ciento en 1993 indicando esto un descenso sostenido en la transmisión de la infección. Los datos que muestran una disminución de la prevalencia en la población general del país contrastan con los resultados obtenidos en la serología del banco de sangre de un hospital de la Capital Federal como es el Hospital Italiano de Buenos Aires. Esta contraposición de los datos pueden ser explicados a través de una migración interna de la población desde las áreas donde la prevalencia es mayor hacia donde es menor. Tanto la migración interna como la desocupación estan relacionados con las profundas transformaciones que en términos de distribución, transferencias de ingresos entre estratos y modificaciones en la estratificación social trajo aparejado el eje de acumulación financiero en nuestro país a partir del año 1976. Este trabajo muestra como datos obtenidos de la serología que habitualmente se realiza en el banco de sangre pueden correlacionarse con datos demográficos que permiten explicar cambios significativos de la prevalencia de una enfermedad en diferentes áreas del país.