Actinrelated protein 2/3 complex subunit 1B (ARPC1B) deficiency is an inborn error of immunity (IEI) characterized by a combination of immunodeficiency and immune dysregulation and classified as an ...IEI with allergic manifestations. Here, we describe two patients with pathogenic variants in the ARPC1B gene. The first patient presented with eczema and bronchospasm at six months of age. The second patient presented with eczema and milk protein allergy at five months of age. The c.899_944 (p.Glu300Glyfs*7) pathogenic variant was previously described, whereas the c.863del (p.Pro288Leufs*9) variant was novel. ARPC1B deficiency should be considered because of the severe allergic manifestations at an early age.
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as mycobacteria, attenuated
Mycobacterium ...bovis
-Bacillus Calmette–Guérin (BCG) vaccine strains, and environmental mycobacteria in otherwise healthy individuals. Retrospective study reviewed the clinical, immunological, and genetic characteristics of patients with MSMD in Mexico. Overall, 22 patients diagnosed with MSMD from 2006 to 2021 were enrolled: 14 males (64%) and eight females. After BCG vaccination, 12 patients (70%) developed BCG infection. Furthermore, 6 (22%) patients developed bacterial infections mainly caused by
Salmonella
, as what is described next in the text is fungal infections, particularly Histoplasma. Seven patients died of disseminated BCG disease. Thirteen different pathogenic variants were identified in
IL12RB1
(
n
= 13),
IFNGR1
(
n
= 3), and
IFNGR2
(
n
= 1) genes. Interleukin-12Rβ1 deficiency is the leading cause of MSMD in our cohort. Morbidity and mortality were primarily due to BCG infection.
Mendelian Susceptibility to Mycobacterial Disease describes a spectrum of inherited defects, of which complete deficiency of the interleukin-12 receptor β subunit 1 (IL-12Rβ1) is the most common ...cause. This condition results in a predisposition to severe disease caused by mycobacteria. We report a case of disseminated multidrug-resistant tuberculosis with extensive central nervous system affection with SARS-CoV-2 co-infection, in a 4-year-old child with IL-12Rβ1 complete deficiency.
La garrapata Rhipicephalus microplus causa daños a la ganadería bovina, tiene un gran impacto económico e influye significativamente sobre la productividad y competitividad comercial del sector, ...principalmente en zonas tropicales y subtropicales del país, generando pérdidas anuales millonarias. Actualmente, el control del ectoparásito empleando agentes biológicos (hongos entomopatógenos, principalmente) tiene un elevado potencial para reducir las poblaciones de las garrapatas. El objetivo del presente estudio fue evaluar in vitro el potencial acaricida de Beauveria bassiana DS3.17 sobre hembras ingurgitadas de R. microplus, mediante inmersión del acaro en diferentes concentraciones de conidios del hongo para determinar los efectos sobre los parámetros reproductivos (peso total de huevos, porcentaje de eclosión, índice de ovoposición y nutrición). Las concentraciones evaluadas de B. bassiana DS3.17 evidenciaron un efecto acaricida de hasta un 93.2 % en adultos y un cambio en el comportamiento de los parámetros biológicos de las hembras adultas, inhibiendo la ovoposición entre 75.84 y 79.60 %. En cuanto al índice de reproducción estimada se obtuvo un control del 45.23 al 83.79 %, el índice de nutrición fue de 10.21 y 10.67 %. El estudio mostró un cambio en el comportamiento de los parámetros reproductivos cuando se utilizó B. bassiana DS3.17, y cada uno de los resultados mostraron diferencias significativas; las concentraciones de conidios afectaron la reproducción del parásito respecto al control, por lo que B. bassiana DS3.17 presentó un potencial acaricida para el control de la garrapata.
The protein composition of the soluble venom from the South American fish-eating coral snake Micrurus surinamensis surinamensis, here abbreviated M. surinamensis, was separated by RP-HPLC and 2-DE, ...and their components were analyzed by automatic Edman degradation, MALDI-TOF and ESI-MS/MS. Approximately 100 different molecules were identified. Sixty-two components possess molecular masses between 6 and 8 kDa, are basically charged molecules, among which are cytotoxins and neurotoxins lethal to fish (Brachidanios rerio). Six new toxins (abbreviated Ms1-Ms5 and Ms11) were fully sequenced. Amino acid sequences similar to the enzymes phospholipase A2 and amino acid oxidase were identified. Over 20 additional peptides were identified by sequencing minor components of the HPLC separation and from 2-DE gels. A functional assessment of the physiological activity of the six toxins was also performed by patch clamp using muscular nicotinic acetylcholine receptor assays. Variable degrees of blockade were observed, most of them reversible. The structural and functional data obtained were used for phylogenetic analysis, providing information on some evolutionary aspects of the venom components of this snake. This contribution increases by a factor of two the total number of α-neurotoxins sequenced from the Micrurus genus in currently available literature.
The ability to express the same meaning in different ways is a well-known property of natural language. This amazing property is the source of major difficulties in natural language processing. Given ...the constant increase in published literature, its curation and information extraction would strongly benefit from efficient automatic processes, for which corpora of sentences evaluated by experts are a valuable resource.
Given our interest in applying such approaches to the benefit of curation of the biomedical literature, specifically that about gene regulation in microbial organisms, we decided to build a corpus with graded textual similarity evaluated by curators and that was designed specifically oriented to our purposes. Based on the predefined statistical power of future analyses, we defined features of the design, including sampling, selection criteria, balance, and size, among others. A non-fully crossed study design was applied. Each pair of sentences was evaluated by 3 annotators from a total of 7; the scale used in the semantic similarity assessment task within the Semantic Evaluation workshop (SEMEVAL) was adapted to our goals in four successive iterative sessions with clear improvements in the agreed guidelines and interrater reliability results. Alternatives for such a corpus evaluation have been widely discussed.
To the best of our knowledge, this is the first similarity corpus-a dataset of pairs of sentences for which human experts rate the semantic similarity of each pair-in this domain of knowledge. We have initiated its incorporation in our research towards high-throughput curation strategies based on natural language processing.
El presente trabajo de investigación consiste en convertir un edificio convencional en un edificio verde, es decir, un edificio ambientalmente responsable desde la concepción del proyecto hasta el ...final de su vida útil. La edificación convencional en estudio está destinada a ser una vivienda multifamiliar que se pretende construir en el distrito de Chorrillos. El desarrollo de un edificio verde surge debido a que, actualmente, el sector de la construcción es una de las industrias con mayor impacto ambiental en el mundo. Esta situación ha generado gran preocupación a un grupo de constructores, quienes buscan disminuir los efectos negativos por edificar convencionalmente. Se plantea como solución la construcción de edificios verdes, los cuales buscan reducir el impacto ambiental mediante el uso de sistemas de agua y energía ambientalmente responsables, y mediante una adecuada administración de recursos en cada una de sus etapas. De esta manera, ante la problemática en mención, se plantea una metodología basada en la revisión bibliográfica acerca de los edificios nombrados, donde se define las principales consideraciones a tomar en cuenta. Posteriormente, se propone la implementación de ciertos atributos sostenibles que contribuyan a lograr el status de edificio verde sin que ello represente un incremento sobrevalorado del costo total de la edificación. El trabajo permite concluir que el sector de la construcción contribuye significativamente al deterioro del medio ambiente. Por lo tanto, es necesario incluir métodos y herramientas que reduzcan el impacto ambiental de las edificaciones y que no representan un impacto económico importante en el proyecto.
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