A case of interstitial lung and liver disease caused by MARS1 gene mutation / 中国当代儿科杂志

The patient is a female infant, 4 months and 9 days old, who was admitted to the hospital due to recurrent fever, cough, and hepatomegaly for over a month. The patient was a healthy full-term infant with a normal birth history. At 2 months and 22 days after birth, she developed recurrent fever, cough, and respiratory distress. Chest imaging revealed diffuse bilateral lung lesions, and fiberoptic bronchoscopy showed interstitial changes in both lungs. These suggested the presence of interstitial lung disease. The patient also presented with hepatomegaly, anemia, hyperlipidemia, hypothyroidism, and malnutrition. Genetic testing indicated compound heterozygous variations in the MARS1 gene. This mutation can cause interstitial lung and liver disease, which is a severe rare disorder that typically manifests in infancy or early childhood. It is inherited in an autosomal recessive manner and characterized by early-onset respiratory insufficiency and liver disease in infants or young children. Since its first reported case in 2013, as of June 2023, only 38 related cases have been reported worldwide. This article reports the multidisciplinary diagnosis and treatment of interstitial lung and liver disease in an infant caused by MARS1 gene mutation.

Microorganismos xerófilos cultivables de la zona semiárida de la Tatacoa (Colombia) / Culture xerophile microorganisms from the Tatacoa semiarid zone (Colombia)

Resumen Introducción. Los microorganismos xerófilos han adquirido una mayor relevancia para la realización de investigaciones relacionadas con sus mecanismos adaptativos frente al estrés hídrico, así como la caracterización e identificación de sus hábitats. En Colombia, las zonas semiáridas y desérticas como el desierto de la Tatacoa han sido poco estudiadas a nivel microbiano. Objetivo. Aislar y caracterizar microorganismos xerófilos provenientes del suelo de la zona semiárida de la Tatacoa del departamento del Huila (Colombia). Materiales y métodos. Se colectaron muestras en los sectores denominados localmente como Cuzco y La Victoria, las cuales fueron procesadas para el aislamiento de microorganismos xerófilos en medio selectivo M40Y para posterior caracterización macro y microscópica, así como evaluación mediante pruebas bioquímicas para la utilización de sustratos. Resultados. Fueron aislados 29 morfotipos entre los cuales se pudieron diferenciar: Bacilos y cocos Gram positivos presentes exclusivamente en el sector del Cuzco y bacterias filamentosas ramificadas (actinobacterias) únicamente en el sector de La Victoria. Se estableció la presencia de los géneros Streptomyces, Micrococcus y Corynebacterium. Conclusiones. La presencia de microorganismos relacionados con los géneros anteriormente mencionados permitirá comprender las posibles interacciones que se presentan en este ecosistema, lo que aportará al desarrollo de este lugar como un posible análogo para estudios de búsqueda de vida en otros planetas como Marte. Además, incentivar estudios más detallados donde se puedan recuperar microorganismos que sean de utilidad para diferentes procesos biotecnológicos.

Abstract Introduction. Xerophilic microorganisms have become more relevant for conducting research related to their adaptive mechanisms against water stress, as well as the characterization and identification of their habitats. In Colombia, semi-arid and desert areas such as the Tatacoa desert have been little studied at the microbial level. Objective. Isolation and characterization of cultivable xerophilic microorganisms from the soil of the semi-arid zone of Tatacoa, in the department of Huila (Colombia). Material and methods. For this, samples were collected in the sectors locally called Cuzco and La Victoria, which were processed for the isolation of xerophilic microorganisms in selective M40Y medium for subsequent macro and microscopic characterization, as well as evaluation by biochemical tests for the use of substrates. Results. 29 morphotypes were isolated among which it was possible to differentiate: Gram-positive bacilli and cocci present exclusively in the Cuzco sector and branched filamentous bacteria (Actinobacteria) only in the La Victoria sector. The presence of the genera Streptomyces, Micrococcus and Corynebacterium was established. Conclusions. The presence of microorganisms related to the mentioned genera will allow us to understand the possible interactions that occur in this ecosystem, which will contribute to the development of this place as a possible analogue of studies for the search for life on other planets such as Mars. In addition, promote more detailed studies where microorganisms that are useful for different biotechnological processes can be recovered.

Pcr Testing On Diagnosis Of Covid–19

There are multiple issues with setting up new diagnostic testing capacity outside ofregular diagnostic laboratories. This is not an overnight solution. Research laboratories havedifferent approaches, equipment and staff. There are multiple steps to ensure that themethods used and results are a correctly validated, as there is nothing more dangerous at themoment than reporting incorrect negative or positive results to staff or patients. That beingsaid we can adapt and validate assays and make them work using our equipment that can thenbe rolled out to support the NHS. PCR is a method widely used to rapidly make millions tobillions of copies of a specific DNA sample, allowing scientists to take a very small sample ofDNA and amplify it to a large enough amount to study in detail. It is fundamental too much ofgenetic testing including analysis of ancient samples of DNA and identification of infectiousagents. Using PCR, copies of very small amounts of DNA sequences are exponentially amplifiedin a series of cycles of temperature changes. PCR is now a common and often indispensabletechnique used in medical laboratory and clinical laboratory research for a broad variety ofapplications including biomedical research and criminal forensics.

Syndrome Differentiation of Chinese Medicine in Mars 500 Long-Term Closed Environment / 中国结合医学杂志

OBJECTIVE@#To summarize and elucidate the characteristics and evolvement of Chinese medicine (CM) patterns reflecting the physical and mental conditions of participants in the Mars 500 long-term closed environment.@*METHODS@#The DS01-T Digital TCM Four-Diagnostic Instrument and CM Inquiring Diagnostic Questionnaire were used to collect information from 6 participants in the Mars 500 International Joint Research Project, through diagnostic methods of observation, palpation and inquiry according to CM theory. During the 520 days of the experiment, data collection was performed 37 times; a total of over 400 digital images of tongues and facial complexion and over 20,000 data were collected. These data were then analyzed by a team of experts in CM, statistics, and data mining.@*RESULTS@#The CM pattern evolvement of participants in the long-term closed environment followed some common trends. Qi deficiency was the main CM pattern observed, with individual features depending on constitutional differences [manifested in varying degrees of accompanying patterns of Gan (Liver) qi stagnation, Pi (Spleen) deficiency, dampness encumbering, or yin deficiency].@*CONCLUSION@#The research has verified the effectiveness of CM syndrome differentiation based on the four diagnostic methods, which should serve as a solid foundation for observation, monitoring, and intervention in regard to the health conditions of astronauts in long-term space flights in the future.

Stress and Coping in Extreme Environments: Implications for a Mars Mission

Introduction: There are very few studies of all-women teams performing in highly challenging isolated, confined, and extreme environments. Objective: To evaluate individual stressors, coping methods, and team functioning over an extended highly challenging trek. Methods: Subjects in this study were six British military officers who successfully traversed the Antarctic continent on skis over a 61-day 1700 km trek. The measures administered and their timing were as follows: Pre-expedition - Multidimensional Personality Questionnaire-Brief Form (MPQ-BF); Triarchic Psychopathy Measure (TriPM); Portrait Values Questionnaire (PVQ); Expedition - weekly rating form (WRF) assessing stress, coping, and team decision making; Post-expedition - debriefing interview and PVQ. Results: The group had high scores on personality scales indicating traits of Achievement, Social Closeness, Absorption (imagination), and Boldness, although individual differences were evident. Subjects gave high ratings to PVQ Hedonism (pleasure), Stimulation, and Self-direction values; the Tradition value was rated low. Subjects reported primarily positive experiences on the ice, and used both cognitive and behavioral coping methods to deal with stress. A salient issue was resolving individual goals among team members vs. team goals in the pace and distance covered each day. Other themes related to the importance of honesty in communication for team success, dealing with friction between two dominant individuals, and proving oneself through the physical challenge. Discussion: The implications of these findings for a Mars mission include the importance of enhancing the effectiveness of both pre-flight training and the countermeasures developed for use during flight to deal with interpersonal and work performance stressors. The effective use of ground-based analogs such as expedition teams operating in challenging and extreme environments is discussed.

Introducción: Existen muy pocos estudios sobre el desempeño de equipos exclusivamente femeninos en entornos muy hostiles, aislados, confinados o extremos. Objetivo: Evaluar los factores estresantes individuales, los métodos de afrontamiento y el funcionamiento del equipo durante una caminata prolongada y altamente desafiante. Métodos: Los sujetos del presente estudio fueron seis oficiales militares británicas que atravesaron exitosamente el continente antártico en un fatigoso recorrido en esquís de 1 700 km y 61 días. Las mediciones administradas y su duración fueron las siguientes: Pre-expedición - Cuestionario multidimensional de personalidad - formulario breve (MPQ-BF); Medida psicopática triárquica (TriPM); Cuestionario de valores (PVQ); Expedición - formulario de evaluación semanal (WRF), que evalúa el estrés, el enfrentamiento y la toma de decisiones colectivas; Post-expedición - entrevista sobre incidentes y PVQ. Resultados: El grupo obtuvo altas calificaciones en las escalas de personalidad relacionadas con los siguientes rasgos: Logros, Cercanía Social, Abstracción (imaginación) e Intrepidez, aunque con evidentes diferencias individuales. Los sujetos otorgaron altas calificaciones a los valores PVQ de Hedonismo (placer), Estimulación y Autodirección, mientras que el valor Tradición obtuvo una baja calificación. Los sujetos reportaron sobre todo experiencias positivas en el hielo, y aplicaron métodos de enfrentamiento tanto cognitivos como conductuales para manejar el estrés. Un problema recurrente fue la conciliación entre los objetivos individuales y los colectivos en cuanto a la velocidad de avance y la distancia que debían cubrir cada día. Otros temas fueron la importancia de la honestidad en la comunicación para lograr éxitos colectivos, el manejo de las fricciones entre dos individuos dominantes, y el probarse a uno mismo mediante el enfrentamiento a retos físicos. Discusión: Las implicaciones de estos resultados para una misión a Marte incluyen la importancia de elevar la efectividad tanto del entrenamiento anterior al vuelo como de las contramedidas elaboradas para su aplicación durante el mismo, con vistas a manejar los factores estresantes en el trabajo y las relaciones interpersonales. Se analiza el uso efectivo de condiciones análogas en tierra, como pueden ser las expediciones que se desenvuelven en entornos hostiles y extremos.

Historia en tiempo real de las bacterias del siglo XXI: gigantes y marcianas / Real time history of 21st century bacteria: giants and martians

Resumen Hemos denominado bacterias del siglo XXI a dos tipos de extrañas y maravillosas criaturas del Reino Protista, descubiertas entre los últimos años del siglo pasado y los días que hoy vivimos: las bacterias gigantes y las de un posible origen marciano. En su búsqueda, audaces investigadores han viajado a tierras distantes y peligrosas, acampando en lugares desolados y descendiendo a las profundidades marinas, actividades que llamamos investigación aventura. Presentamos como ejemplos una expedición al Mar Rojo, buscando el gigantesco Epulopiscium; una temporada en el lago Mono, California, en pos de una bacteria con arsénico en su ADN; un patrullaje en el Ártico, para encontrar bacterias petrificadas en un meteorito marciano; sin olvidar que el tranquilo laboratorio también puede ser un lugar peligroso, porque toda investigación es una aventura.

We denominate "21st century bacteria" two types of strange and amazing creatures from the kingdom Protista, discovered between the last years of the twentieth and the present days: the giant bacteria and those with a possible Martian origin. Searching for them, bold investigators have travelled to distant and hostile lands, desolate places and deep waters, performing a kind of investigation that we only can describe as "investigation-adventure". This paper presents expeditions to the Red Sea, fishing the Epulopiscium; to Lake Mono, searching a bacteria able to growth with arsenic; to the Antarctic Circle, finding a meteorite with petrified alien microorganisms; and… to the quiet laboratory, a not less dangerous place.

Effects of prolonged isolation in a confined space on status of oxidative stress and prothrombogenesis: In preparation for possible future manned space expedition to Mars

@#Introduction: Apart from inflammation and endothelial dysfunction, other key components in the development of atherogenesis include prothrombogenesis and oxidative stress. The effects of long-term confinement and isolation, exposure to radiation and different gravity forces during space travel could potentially increase the long-term risk of atherosclerosis. To the best of our knowledge, this is the first study determining the status of prothrombogenesis and oxidative stress in six cosmonauts subjected to the longest duration of confined isolation period of 520 days in preparation for prospective undetermined manned space travel to Mars. Materials and Methods: This collaborative research between the National Space Agency (ANGKASA), Universiti Teknologi MARA, Malaysia and Institute of Biomedical Problems (IBMP), Russia was conducted at the Russian Academy of Sciences IBMP, Moscow, Russia. Six multi-national cosmonauts were assigned to live in a ground-based confined module for 520 days. Standard exercise and diet regime were instituted throughout the isolation phase. Six age, ethnic and gender-matched healthy, free-living ground controls were recruited in parallel. Serial serum and whole blood were analysed for biomarkers of prothrombogenesis [plasminogen activator inhibitor-1 (PAI-1) and homocysteine] and oxidative stress [oxidised low-density lipoprotein (ox-LDL) and malondialdehyde (MDA)]. Results: There were significantly lower concentrations of PAI-1 and homocysteine in cosmonauts during confinement compared to the controls. There were no significant differences seen in the concentrations of biomarkers of oxidative stress during confinement but there was a significant percentage change increment for serum MDA in cosmonauts. Conclusion: Long-term confinement decreased the risk of prothrombogenesis and this could be attributed to the exercise and diet regime which includes omega-3 fatty acids supplementation given to the crew members during their confinement period. However, oxidative damage could not be excluded and may be attributed to the influence of psychological stress during this prolonged confinement.

Reference evapotranspiration estimated from air temperature using the MARS regression technique / Evapotranspiração de referência estimada a partir da temperatura do ar usando a técnica de regressão MARS

The reference evapotranspiration (ETo) is an important component for determining the water requirements of the crops. In order to estimate this variable accurately, the Food and Agriculture Organization (FAO) proposed the Penman-Monteith equation, however, this demands a large number of meteorological data, which restricts its use. In this context, this study compares the performance of the Penman-Monteith equation using only measured air temperature (PMT) and the Hargreaves-Samani (HS) equation with the performance of the multivariate adaptive regression splines (MARS) technique for the daily ETo estimation with only air temperature data. For the study, daily meteorological data from 2002 to 2016 were used. The data were collected from weather stations located in Florianópolis- SC, Manaus-AM and Petrolina-PE, being these selected in order to capture different climatic conditions. MARS models were developed for each weather station and the PMT e HS equations were locally calibrated. The performances of the original and calibrated equations and MARS models were evaluated based on the statistical indices root mean square error, mean absolute error, mean bias error and coefficient of determination. The ETo estimated by the Penman-Monteith method with full data was used as reference for the development of the MARS models, calibration of the equations and for the performance evaluation of the models under study. The calibration of the HS and PMT equations promoted better performances in relation to the original equations, improving the methods accuracy. The MARS technique presented good performance, outperforming the original and calibrated PMT and HS equations, with lower error values and higher coefficient of determination, and can be considered as an alternative to empirical methods.

A evapotranspiração de referência (ETo) é um componente importante para determinar o requerimento de água das culturas. Para estimar esta variável com acurácia, a Food and Agriculture Organization (FAO) propôs a equação de Penman-Monteith, no entanto, esta demanda um grande número de dados meteorológicos, o que restringe seu uso. Neste contexto, este estudo compara o desempenho da equação de Penman-Monteith usando apenas temperatura do ar medida (PMT) e a equação Hargreaves-Samani (HS) com o desempenho da técnica multivariate adaptive regression splines (MARS) para a estimativa da ETo diária com apenas dados de temperatura do ar. Para o estudo, foram utilizados dados meteorológicos diários de 2002 a 2016. Os dados foram coletados de estações meteorológicas localizadas em Florianópolis-SC, Manaus-AM e Petrolina-PE, sendo estas selecionadas a fim de capturar diferentes condições climáticas. Modelos MARS foram desenvolvidos para cada estação meteorológica e as equações de PMT e HS foram calibradas localmente. Os desempenhos das equações originais e calibradas e modelos MARS foram avaliados com base nos indicadores estatísticos raiz do erro quadrático médio, erro absoluto médio, viés médio e coeficiente de determinação. A ETo estimada pelo método de Penman-Monteith com dados completos foi utilizada como referência para o desenvolvimento dos modelos MARS, calibração das equações e para a avaliação da performance dos modelos em estudo. A calibração das equações HS e PMT promoveu melhores desempenhos em relação às equações originais, melhorando a acurácia dos métodos. A técnica MARS apresentou bom desempenho, superando as equações de PMT e HS originais e calibradas, com menores valores de erro e maiores coeficientes de determinação, e pode ser considerada como uma alternativa aos métodos empíricos.

Falla hepática aguda sobre crónica / Acute-On-Chronic Liver Failure

La falla hepática aguda sobre crónica (ACLF, del inglés Acuteon Chronic Liver Failure) comprende el deterioro agudo de la función hepática en un paciente que tiene de base una enfermedad hepática crónica de novo o conocida y desencadenada por diferentes factores precipitantes que pueden ser hepáticos o extrahepáticos. Dentro de las manifestaciones clínicas se encuentran: disfunción renal, encefalopatía hepática y falla orgánica multisistémica, que de no ser tratadas oportunamente se traducen en mal pronóstico. Se han utilizado varias puntuaciones para valorar la función hepática y el pronóstico de los pacientes. A pesar de que la falla orgánica multisistémica es una contraindicación para el trasplante hepático, este sigue siendo la mejor opción de tratamiento para estos pacientes

Acute-on-chronic liver failure (ACLF) includes acute deterioration of liver functions in patients with either chronic de novo liver disease or already diagnosed liver disease. ACLF can be triggered by various hepatic or extrahepatic precipitating factors. Among its clinical manifestations are renal dysfunction, hepatic encephalopathy, and multisystem organ failure. If not treated promptly translate the prognosis can be poor. Several scoring systems have been used to assess liver function and patient prognosis. Although multisystem organ failure contraindicates liver transplantation, it remains the treatment of choice for this patients

Usefulness and Safety of Extracorporeal Liver Support Therapy Using MARS(R) for Patients with Liver Failure: A Preliminary Report / 대한소화기학회지

BACKGROUND/AIMS: The molecular adsorbent recirculating system (MARS(R)) is a form of artificial extracorporeal liver support and can be used for a bridge to spontaneous recovery of hepatic function or liver transplantation in patients with liver failure. This study evaluated the usefulness of MARS(R) in patients with liver failure. METHODS: Between January 2004 and July 2007, 30 patients (21 males and 7 females; age 48.9+/-12.9 years) with acute or acute-on-chronic liver failure were managed using MARS(R). We assessed laboratory data, the grade of hepatic encephalopathy, Child-Turcotte-Pugh class, and Model for End-Stage Liver Disease (MELD) score. RESULTS: The number of patients with acute liver failure and acute-on-chronic liver failure was 16 and 14, respectively. The mean cycle of MARS(R) in patients with liver failure was 2.2 sessions. After MARS(R) had been performed, serum total bilirubin, alanine aminotransferase (ALT), BUN, creatinine, ammonia level, daily urine output, and MELD score were improved (p<0.05). In contrast, MARS(R) failed to improve Child-Turcotte-Pugh score and the grade of hepatic encephalopathy. Liver transplantation was performed in 8 patients. Among them, 5 (62.5%) patients survived and 3 (37.5%) patients died. Twenty two patients underwent MARS(R) without liver transplantation and 4 (18.2%) of them survived. CONCLUSIONS: In patients with liver failure, MARS(R) improved the laboratory data and hepatic and renal function associated clinical characteristics. However, MARS(R) without liver transplantation did not improve survival. MARS(R) may be useful as a bridge therapy to liver transplantation in patients with liver failure.