Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution.

BACKGROUND: Inborn Errors of Immunity (IEI) comprise several genetic anomalies that affect different components of the innate and adaptive responses, predisposing to infectious diseases, autoimmunity and malignancy. Different studies, mostly in adults, have reported a higher prevalence of cancer in IEI patients. However, in part due to the rarity of most of these IEI subtypes (classified in ten categories by the Primary Immunodeficiency Committee of the International Union of Immunological Societies), it is difficult to assess the risk in a large number of patients, especially during childhood. OBJECTIVE: To document the cancer prevalence in a pediatric cohort from a single referral institution, assessing their risk, together with the type of neoplasia within each IEI subgroup. METHOD: An extensive review of clinical records from 1989 to 2022 of IEI patients who at some point developed cancer before the age of sixteen. RESULTS: Of a total of 1642 patients with IEI diagnosis, 34 developed cancer before 16 years of age, showing a prevalence (2.1%) significantly higher than that of the general age matched population (0.22). Hematologic neoplasms (mostly lymphomas) were the most frequent malignancies. CONCLUSION: This study represents one of the few reports focused exclusively in pediatric IEI cases, describing not only the increased risk of developing malignancy compared with the age matched general population (a fact that must be taken into account by immunologists during follow-up) but also the association of the different neoplasms with particular IEI subtypes, thus disclosing the possible mechanisms involved.

Optimal Rotation Age in Fast Growing Plantations: A Dynamical Optimization Problem.

Forest plantations are economically and environmentally relevant, as they play a key role in timber production and carbon capture. It is expected that the future climate change scenario affects forest growth and modify the rotation age for timber production. However, mathematical models on the effect of climate change on the rotation age for timber production remain still limited. We aim to determine the optimal rotation age that maximizes the net economic benefit of timber volume in a negative scenario from the climatic point of view. For this purpose, a bioeconomic optimal control problem was formulated from a system of Ordinary Differential Equations (ODEs) governed by the state variables live biomass volume, intrinsic growth rate, and area affected by fire. Then, four control variables were associated to the system, representing forest management activities, which are felling, thinning, reforestation, and fire prevention. The existence of optimal control solutions was demonstrated, and the solutions of the optimal control problem were also characterized using Pontryagin's Maximum Principle. The solutions of the model were approximated numerically by the Forward-Backward Sweep method. To validate the model, two scenarios were considered: a realistic scenario that represents current forestry activities for the exotic species Pinus radiata D. Don, and a pessimistic scenario, which considers environmental conditions conducive to a higher occurrence of forest fires. The optimal solution that maximizes the net benefit of timber volume consists of a strategy that considers all four control variables simultaneously. For felling and thinning, regardless of the scenario considered, the optimal strategy is to spend on both activities depending on the amount of biomass in the field. Similarly, for reforestation, the optimal strategy is to spend as the forest is harvested. In the case of fire prevention, in the realistic scenario, the optimal strategy consists of reducing the expenses in fire prevention because the incidence of fires is lower, whereas in the pessimistic scenario, the opposite is true. It is concluded that the optimal rotation age that maximizes the net economic benefit of timber volume in P. radiata plantations is 24 and 19 years for the realistic and pessimistic scenarios, respectively. This corroborates that the presence of fires influences the determination of the optimal rotation age, and as a consequence, the net economic benefit.

Rapid sequence tandem intubation to navigate a subglottic obstruction.

Emergency airway management requires matching the appropriate intubation tools to anticipated obstacles. Video laryngoscopy and flexible endoscopy are often used for difficult airways. Here we describe a case where neither method alone was anticipated to be sufficient. A 53-year-old female with an obstructing lung mass required intubation for a mixed type 1 and 2 respiratory failure. Chest x-ray revealed a tortuous subglottic obstruction. The patient could not be temporized on maximized non-invasive airway support. These factors made tandem intubation, sequentially using video laryngoscopy and flexible endoscopic intubation, an appropriate intubation strategy. In this case report we describe the rationale and technique for a rapid sequence tandem intubation.

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.

PURPOSE: X-linked inhibitor of apoptosis protein (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome of type 2 (XLP-2), is a rare immunodeficiency characterized by recurrent hemophagocytic lymphohistiocytosis, splenomegaly, and inflammatory bowel disease. Variants in XIAP including missense, non-sense, frameshift, and deletions of coding exons have been reported to cause XIAP deficiency. We studied three young boys with immunodeficiency displaying XLP-2-like clinical features. No genetic variation in the coding exons of XIAP was identified by whole-exome sequencing (WES), although the patients exhibited a complete loss of XIAP expression. METHODS: Targeted next-generation sequencing (NGS) of the entire locus of XIAP was performed on DNA samples from the three patients. Molecular investigations were assessed by gene reporter expression assays in HEK cells and CRISPR-Cas9 genome editing in primary T cells. RESULTS: NGS of XIAP identified three distinct non-coding deletions in the patients that were predicted to be driven by repetitive DNA sequences. These deletions share a common region of 839 bp that encompassed the first non-coding exon of XIAP and contained regulatory elements and marks specific of an active promoter. Moreover, we showed that among the 839 bp, the exon was transcriptionally active. Finally, deletion of the exon by CRISPR-Cas9 in primary cells reduced XIAP protein expression. CONCLUSIONS: These results identify a key promoter sequence contained in the first non-coding exon of XIAP. Importantly, this study highlights that sequencing of the non-coding exons that are not currently captured by WES should be considered in the genetic diagnosis when no variation is found in coding exons.

Effects of turning aeration and the initial carbon/nitrogen ratio on the biodegradation of polylactic acid under controlled conditions.

Plastic pollution is primarily caused by the accumulation of petroleum-derived plastics, as they tend to degrade slowly. Sustainable alternatives to these materials are bio-based and biodegradable plastics, such as polylactic acid (PLA). In this study, we assessed how turning aeration and the initial carbon/nitrogen (C/N) ratio impact PLA biodegradation. The study was carried out under controlled composting conditions, over 180 days, with the aim of decreasing the biodegradation time of the PLA. Apple pomace, rice husk, grape pomace compost, and PLA were used as substrates in the composting process. The experiments were conducted using three types of turning aeration: without turning, one turn per week, and two turns per week. Three initial C/N ratios were used: 20, 30, and 40. A stepwise temperature ramp was designed and implemented to simulate industrial composting conditions, which influence microbial activity and thus the rate of decomposition of substrates, including PLA. The data showed behavior; hence, a nonlinear regression model based on the logistic growth equation was used to predict the PLA biodegradation at the end of the composting process. The results showed that two turns per week with an initial C/N ratio of 30 or 40 led to a 90 % biodegradation of the PLA in 130 days. This degradation was verified by Fourier-Transform Infrared Spectroscopy (FTIR) and Scanning Electron Microscopy (SEM).

An Asynchronous Curriculum: Learner Perspectives on Incorporating Asynchronous Learning Into In-Person and Virtual Emergency Residency Didactics.

Background  Didactic education in emergency medicine (EM) residencies has been impacted both by the advent of asynchronous learning and by the shift toward virtual, web-based conference education due to coronavirus disease 2019 (COVID-19). Studies have demonstrated the efficacy of asynchronous education, but few have explored resident opinions about how asynchronous and virtual modifications on conference impact their educational experience.  Objective This study aimed to evaluate resident perceptions of both asynchronous and virtual modifications to a historically in-person didactic curriculum. Methods This was a cross-sectional study of residents of a three-year EM program at a large academic center where a 20% asynchronous curriculum was implemented in January 2020. A questionnaire was administered online with questions assessing how residents perceived their didactic curriculum with regard to convenience, retention of information, work/life balance, enjoyability, and overall preference. Questions compared resident opinions of in-person vs. virtual learning, as well as how the substitution of one hour of asynchronous learning impacted residents' perception of their didactics. Responses were reported on a five-point Likert-type scale.  Results A total of 32 out of 48 residents (67%) completed the questionnaire. When virtual conference was compared to in-person conference, residents favored virtual conference with regard to convenience (78.1%), work-life balance (78.1%), and overall preference (68.8%). They favored in-person conference (40.6%) or felt that the modalities were equivalent (40.6%) with regard to retention of information and favored in-person conference with regard to enjoyability (53.1%). Residents felt that the addition of asynchronous learning to their curriculum increased subjective convenience, work-life balance, enjoyability, retention of information, and overall preference, regardless of whether synchronous conference was virtual or in-person. All 32 responding residents were interested in seeing the asynchronous curriculum continue. Conclusion EM residents value the addition of asynchronous learning to both in-person and virtual didactic curricula. Additionally, virtual conference was favored over in-person conference with regard to work/life balance, convenience, and overall preference. As social distancing restrictions continue to ease post-COVID-19 pandemic, EM residencies may consider adding or maintaining asynchronous or virtual components to their synchronous conference schedule as a means to support resident wellness.

A soil water indicator for a dynamic model of crop and soil water interaction.

Water scarcity is a critical issue in agriculture, and the development of reliable methods for determining soil water content is crucial for effective water management. This study proposes a novel, theoretical, non-physiological indicator of soil water content obtained by applying the next-generation matrix method, which reflects the water-soil-crop dynamics and identifies the minimum viable value of soil water content for crop growth. The development of this indicator is based on a two-dimensional, nonlinear dynamic that considers two different irrigation scenarios: the first scenario involves constant irrigation, and the second scenario irrigates in regular periods by assuming each irrigation as an impulse in the system. The analysis considers the study of the local stability of the system by incorporating parameters involved in the water-soil-crop dynamics. We established a criterion for identifying the minimum viable value of soil water content for crop growth over time. Finally, the model was calibrated and validated using data from an independent field study on apple orchards and a tomato crop obtained from a previous field study. Our results suggest the advantages of using this theoretical approach in modeling the plants' conditions under water scarcity as the first step before an empirical model. The proposed indicator has some limitations, suggesting the need for future studies that consider other factors that affect soil water content.

[Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity]. / Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad.

Inborn errors of immunity, previously named primary immunodeficiency are a heterogeneous group of genetic defects of different components of the immune system. Patients present high susceptibility to an only or several microorganisms, developing recurrent infections; the severity is related to the specific genetic type of immunity defect. The main strategy on the management of these illness is the prevention of infections. These consensus guidelines made by the Pediatric Immunology Work Group of Sociedad Argentina de Pediatría, givese main approaches of infection prevention in order to provide a useful tool for all practitioners who are involved in the management of these patients, based on scientific evidence and broad consensus of a specialized panel expert..

Los errores innatos de la inmunidad (EII), antes llamados inmunodeficiencias primarias (IDP), son un grupo heterogéneo de trastornos genéticos con defectos en uno o más componentes del sistema inmune. Los pacientes afectados por EII presentan aumentada susceptibilidad a microorganismos únicos o múltiples que se manifestará con infecciones recurrentes de diferente tipo y gravedad dependiendo del tipo de la localización del defecto. La prevención de infecciones es uno de los pilares fundamentales en el abordaje integral de los pacientes con EII. En este trabajo se resumen las conclusiones consensuadas en el Grupo de Trabajo de Inmunología Pediátrica de la Sociedad Argentina de Pediatría, sobre la base de la revisión de la evidencia disponible, respecto a los principios esenciales para el cuidado, la prevención de infecciones y la quimioprofilaxis en los errores innatos de la inmunidad para la orientación del pediatra y especialista dedicados al seguimiento de estas enfermedades.

A Systematic Review of Pain Management Education in Graduate Medical Education.

Background: Despite the importance of pain management across specialties and the effect of poor management on patients, many physicians are uncomfortable managing pain. This may be related, in part, to deficits in graduate medical education (GME). Objective: We sought to evaluate the methodological rigor of and summarize findings from literature on GME interventions targeting acute and chronic non-cancer pain management. Methods: We conducted a systematic review by searching PubMed, MedEdPORTAL, and ERIC (Education Resources Information Center) to identify studies published before March 2019 that had a focus on non-cancer pain management, majority of GME learners, defined educational intervention, and reported outcome. Quality of design was assessed with the Medical Education Research Study Quality Instrument (MERSQI) and Newcastle-Ottawa Scale-Education (NOS-E). One author summarized educational foci and methods. Results: The original search yielded 6149 studies; 26 met inclusion criteria. Mean MERSQI score was 11.6 (SD 2.29) of a maximum 18; mean NOS-E score was 2.60 (SD 1.22) out of 6. Most studies employed a single group, pretest-posttest design (n=16, 64%). Outcomes varied: 6 (24%) evaluated reactions (Kirkpatrick level 1), 12 (48%) evaluated learner knowledge (level 2), 5 (20%) evaluated behavior (level 3), and 2 (8%) evaluated patient outcomes (level 4). Interventions commonly focused on chronic pain (n=18, 69%) and employed traditional lectures (n=16, 62%) and case-based learning (n=14, 54%). Conclusions: Pain management education research in GME largely evaluated chronic pain management interventions by assessing learner reactions or knowledge at single sites.

[Microsporum gypseum dermatophytosis in a child with primary immunodeficiency]. / Dermatofitosis por Microsporum gypseum en un niño con inmunodeficiencia primaria.

Microsporum gypseum is a geophilic fungus that can cause inflammatory skin lesions in heathy people. More extensive lesions have been described in immunocompromised patients. We present a patient with extensive dermatophytosis, which mycological examination led the identification of Candida sp, Epidermophyton Floccosum and Trichophyton tonsurans and showed poor response to treatment with griseofulvina and itraconazol at usual doses. When skin biopsy was performed, it had positive culture for M. gypseum. Due to the extension and poor response to treatment, immunological assessment was performed and it showed a defect of STAT1 with gain of function (STAT 1-GOF). Patients with primary immunodeficiency are susceptible to fungal infections, especially Candida but also virus and bacteria, although to a lesser extent. The patient received long-term treatment with systemic imidazole antifungal recovering for the lesions.

El Microsporum gypseum es un hongo geofílico que puede producir lesiones cutáneas inflamatorias en personas sanas. Se han descripto lesiones más extensas en pacientes inmunocomprometidos. Se presenta el caso de un paciente con dermatofitosis, con exámenes micológicos positivos para Candida sp, Epidermophytom floccosum y Trichophyton tonsurans, al que, ante la mala respuesta al tratamiento con griseofulvina e itraconazol a dosis habituales, se le realizó biopsia cutánea para cultivo que evidenció la presencia de M. gypseum. Debido a la extensión y a la mala respuesta al tratamiento, se realizó evaluación inmunológica y se diagnosticó un defecto en STAT1 con ganancia de función (STAT1-GOF). Los pacientes que tienen esta inmunodeficiencia primaria son susceptibles a las infecciones micóticas, especialmente por Candida, pero también, aunque en menor medida, a virus y bacterias. El paciente aquí presentado recibió tratamiento prolongado con antimicóticos imidazólicos sistémicos, con resolución de las lesiones.

Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience.

CARD11-associated diseases are monogenic inborn errors of immunity involving immunodeficiency, predisposition to malignancy and immune dysregulation such as lymphoproliferation, inflammation, atopic and autoimmune manifestations. Defects in CARD11 can present as mutations that confer a complete or a partial loss of function (LOF) or contrarily, a gain of function (GOF) of the affected gene product. We report clinical characteristics, immunophenotypes and genotypes of 15 patients from our center presenting with CARD11-associated diseases. Index cases are pediatric patients followed in our immunology division who had access to next generation sequencing studies. Variant significance was defined by functional analysis in cultured cells transfected with a wild type and/or with mutated hCARD11 constructs. Cytoplasmic aggregation of CARD11 products was evaluated by immunofluorescence. Nine index patients with 9 unique heterozygous CARD11 variants were identified. At the time of the identification, 7 variants previously unreported required functional validation. Altogether, four variants showed a GOF effect as well a spontaneous aggregation in the cytoplasm, leading to B cell expansion with NF-κB and T cell anergy (BENTA) diagnosis. Additional four variants showing a LOF activity were considered as causative of CARD11-associated atopy with dominant interference of NF-kB signaling (CADINS). The remaining variant exhibited a neutral functional assay excluding its carrier from further analysis. Family segregation studies expanded to 15 individuals the number of patients presenting CARD11-associated disease. A thorough clinical, immunophenotypical, and therapeutic management evaluation was performed on these patients (5 BENTA and 10 CADINS). A remarkable variability of disease expression was clearly noted among BENTA as well as in CADINS patients, even within multiplex families. Identification of novel CARD11 variants required functional studies to validate their pathogenic activity. In our cohort BENTA phenotype exhibited a more severe and expanded clinical spectrum than previously reported, e.g., severe hematological and extra hematological autoimmunity and 3 fatal outcomes. The growing number of patients with dysmorphic facial features strengthen the inclusion of extra-immune characteristics as part of the CADINS spectrum. CARD11-associated diseases represent a challenging group of disorders from the diagnostic and therapeutic standpoint, especially BENTA cases that can undergo a more severe progression than previously described.

Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypes.

The prevalence of CD36 deficiency in East Asian and African populations suggests that the causal variants are under selection by severe malaria. Previous analysis of data from the International HapMap Project indicated that a CD36 haplotype bearing a nonsense mutation (T1264G; rs3211938) had undergone recent positive selection in the Yoruba of Nigeria. To investigate the global distribution of this putative selection event, we genotyped T1264G in 3420 individuals from 66 populations. We confirmed the high frequency of 1264G in the Yoruba (26%). However, the 1264G allele is less common in other African populations and absent from all non-African populations without recent African admixture. Using long-range linkage disequilibrium, we studied two West African groups in depth. Evidence for recent positive selection at the locus was demonstrable in the Yoruba, although not in Gambians. We screened 70 variants from across CD36 for an association with severe malaria phenotypes, employing a case-control study of 1350 subjects and a family study of 1288 parent-offspring trios. No marker was significantly associated with severe malaria. We focused on T1264G, genotyping 10,922 samples from four African populations. The nonsense allele was not associated with severe malaria (pooled allelic odds ratio 1.0; 95% confidence interval 0.89-1.12; P = 0.98). These results suggest a range of possible explanations including the existence of alternative selection pressures on CD36, co-evolution between host and parasite or confounding caused by allelic heterogeneity of CD36 deficiency.

Multiple limit cycles in a Gause type predator-prey model with Holling type III functional response and Allee effect on prey.

This work aims to examine the global behavior of a Gause type predator-prey model considering two aspects: (i) the functional response is Holling type III and, (ii) the prey growth is affected by the Allee effect. We prove the origin of the system is an attractor equilibrium point for all parameter values. It has also been shown that it is the ω-limit of a wide set of trajectories of the system, due to the existence of a separatrix curve determined by the stable manifold of the equilibrium point (m,0), which is associated to the Allee effect on prey. When a weak Allee effect on the prey is assumed, an important result is obtained, involving the existence of two limit cycles surrounding a unique positive equilibrium point: the innermost cycle is unstable and the outermost stable. This property, not yet reported in models considering a sigmoid functional response, is an important aspect for ecologists to acknowledge as regards the kind of tristability shown here: (1) the origin; (2) an interior equilibrium; and (3) a limit cycle of large amplitude. These models have undoubtedly been rather sensitive to disturbances and require careful management in applied conservation and renewable resource contexts.

Mast Cell Modulation of B Cell Responses: An Under-Appreciated Partnership in Host Defence.

Mast cells are well known to be activated via cross-linking of immunoglobulins bound to surface receptors. They are also recognized as key initiators and regulators of both innate and adaptive immune responses against pathogens, especially in the skin and mucosal surfaces. Substantial attention has been given to the role of mast cells in regulating T cell function either directly or indirectly through actions on dendritic cells. In contrast, the ability of mast cells to modify B cell responses has been less explored. Several lines of evidence suggest that mast cells can greatly modify B cell generation and activities. Mast cells co-localise with B cells in many tissue settings and produce substantial amounts of cytokines, such as IL-6, with profound impacts on B cell development, class-switch recombination events, and subsequent antibody production. Mast cells have also been suggested to modulate the development and functions of regulatory B cells. In this review, we discuss the critical impacts of mast cells on B cells using information from both clinical and laboratory studies and consider the implications of these findings on the host response to infections.

Global stability in a modified Leslie-Gower type predation model assuming mutual interference among generalist predators.

In the ecological literature, mutual interference (self-interference) or competition among predators (CAP) to effect the harvesting of their prey has been modeled through different mathematical formulations. In this work, the dynamical properties of a Leslie-Gower type predation model is analyzed, incorporating one of these forms, which is described by the function $g\left(y\right) =y^{\beta }$, with $0<\beta <1$. This function $g$ is not differentiable for $y=0$, and neither the Jacobian matrix of the system is not defined in the equilibrium points over the horizontal axis ($x-axis$). To determine the nature of these points, we had to use a non-standard methodology. Previously, we have shown the fundamental properties of the Leslie-Gower type model with generalist predators, to carry out an adequate comparative analysis with the model where the competition among predators (CAP) is incorporated. The main obtained outcomes in both systems are: (i) The unique positive equilibrium point, when exists, is globally asymptotically stable (g.a.s), which is proven using a suitable Lyapunov function. (ii) There not exist periodic orbits, which was proved constructing an adequate Dulac function.

Dynamics of a modified Leslie-Gower predation model considering a generalist predator and the hyperbolic functional response.

In the ecological literature,many models for the predator-prey interactions have been well formulated but partially analyzed.Assuming this analysis to be true and complete,some authors use that results to study a more complex relationship among species (food webs).Others employ more sophisticated mathematical tools for the analysis,without further questioning.The aim of this paper is to extend,complement and enhance the results established in an earlier article referred to a modified Leslie-Gower model.In that work,the authors proved only the boundedness of solutions,the existence of an attracting set,and the global stability of a single equilibrium point at the interior of the first quadrant.In this paper,new results for the same model are proven,establishing conditions in the parameter space for which up two positive equilibria exist.Assuming there exists a unique positive equilibrium point,we have proved,the existence of:i) a separatrix curve Σ,dividing the trajectories in the phase plane,which can have different ω-limit,ii) a subset of the parameter space in which two concentric limit cycles exist,the innermost unstable and the outermost stable.Then,there exists the phenomenon of tri-stability,because simultaneously,it has:a local stable positive equilibrium point, a stable limit cycle,and an attractor equilibrium point over the vertical axis.Therefore,we warn the model studied have more rich and interesting properties that those shown that earlier papers.Numerical simulations and a bifurcation diagram are given to endorse the analytical results.

Bifurcations and multistability on the May-Holling-Tanner predation model considering alternative food for the predators.

In this paper a modified May-Holling-Tanner predator-prey model is analyzed, considering an alternative food for predators, when the quantity of prey i scarce. Our obtained results not only extend but also complement existing ones for this model, achieved in previous articles. The model presents rich dynamics for different sets of the parameter values; it is possible to prove the existence of: (i) a separatrix curve on the phase plane dividing the behavior of the trajectories, which can have different ω-limit; this implies that solutions nearest to that separatrix are highly sensitive to initial conditions, (ii) a homoclinic curve generated by the stable and unstable manifolds of a saddle point in the interior of the first quadrant, whose break generates a non-infinitesimal limit cycle, (iii) different kinds of bifurcations, such as: saddle-node, Hopf, Bogdanov-Takens, homoclinic and multiple Hopf bifurcations. (iv) up to two limit cycles surrounding a positive equilibrium point, which is locally asymptotically stable. Thus, the phenomenon of tri-stability can exist, since simultaneously can coexist a stable limit cycle, joint with two locally asymptotically stable equilibrium points, one of them over the y-axis and the other positive singularity. Numerical simulations supporting the main mathematical outcomes are shown and some of their ecological meanings are discussed.

Neurofibroma solitario en maxilar superior: reporte de caso inusual / Solitary neurofibroma in upper maxillary: an unusual case report

Los neurofibromas solitarios han sido reportados en la literatura, pero son casos muy raros; por definición se presentan en pacientes que no tienen enfermedad de Von Recklinghausen, que se hereda en forma autosómica dominante, y se presenta con mayor frecuencia en hombres. Es un tumor benigno que puede presentarse solitario o múltiple; su aparición en la cavidad oral suele ser muy rara, pero su sitio de predilección es la lengua, seguido de la mucosa alveolar, paladar y encía gingival. Aparecen con más frecuencia durante la tercera década de vida, aunque se describen casos desde los 10 meses hasta los 70 años de edad. En este reporte se expondrá el caso clínico de un paciente de sexo femenino, de 17 años de edad, que acudió a consulta a la clínica dental centenario por presentar una lesión superior que cubría parte de las coronas anatómicas en piezas dentales del maxilar superior izquierdo, además, en el reporte de estudio inmunoquimicohistológico se diagnosticó neurofibroma, con expresión de S-100. Consideramos de suma importancia el reconocimiento de estos crecimientos intraorales para lograr establecer un diagnóstico definitivo cierto y veraz de la situación (AU)

Solitary neurofibromas have been reported in the literature, but they are very rare cases. By definition they occur in patients who do not have Von Recklinghausen disease, which is inherited in an autosomal dominant manner; It occurs more frequently in men. It is a benign tumor that can appear solitary or multiple. Its appearance in the oral cavity is usually very rare, but its site of preference is the tongue, followed by the alveolar mucosa, palate, and gingival gingiva. They appear more frequently during the third decade of life, although cases from 10 months to 70 years of age are described. This report will present the clinical case of a 17-year-old female patient who came to the Centennial Dental Clinic for consultation presenting an elevated lesion covering part of the anatomical crowns in dental pieces in the left upper jaw and in the report. Neurofibroma was diagnosed from the Immunochemicalhistological study, with S-100 expression. We consider the recognition of these intraoral growths of utmost importance in order to establish a true and truthful definitive diagnosis of the situation (AU)

Malnutrition in HIV-Infected Children Is an Indicator of Severe Disease with an Impaired Response to Antiretroviral Therapy.

This observational study aimed to describe immunopathogenesis and treatment outcomes in children with and without severe acute malnutrition (SAM) and HIV-infection. We studied markers of microbial translocation (16sDNA), intestinal damage (iFABP), monocyte activation (sCD14), T-cell activation (CD38, HLA-DR) and immune exhaustion (PD1) in 32 HIV-infected children with and 41 HIV-infected children without SAM prior to initiation of antiretroviral therapy (ART) and cross-sectionally compared these children to 15 HIV-uninfected children with and 19 HIV-uninfected children without SAM. We then prospectively measured these markers and correlated them to treatment outcomes in the HIV-infected children at 48 weeks following initiation of ART. Plasma levels of 16sDNA, iFABP and sCD14 were measured by quantitative real time PCR, ELISA and Luminex, respectively. T cell phenotype markers were measured by flow cytometry. Multiple regression analysis was performed using generalized linear models (GLMs) and the least absolute shrinkage and selection operator (LASSO) approach for variable selection. Microbial translocation, T cell activation and exhaustion were increased in HIV-uninfected children with SAM compared to HIV-uninfected children without SAM. In HIV-infected children microbial translocation, immune activation, and exhaustion was strongly increased but did not differ by SAM-status. SAM was associated with increased mortality rates early after ART initiation. Malnutrition, age, microbial translocation, monocyte, and CD8 T cell activation were independently associated with decreased rates of CD4% immune recovery after 48 weeks of ART. SAM is associated with increased microbial translocation, immune activation, and immune exhaustion in HIV-uninfected children and with worse prognosis and impaired immune recovery in HIV-infected children on ART.

Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad / Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity

Los errores innatos de la inmunidad (EII), antes llamados inmunodeficiencias primarias (IDP), son un grupo heterogéneo de trastornos genéticos con defectos en uno o más componentes del sistema inmune. Los pacientes afectados por EII presentan aumentada susceptibilidad a microorganismos únicos o múltiples que se manifestará con infecciones recurrentes de diferente tipo y gravedad dependiendo del tipo de la localización del defecto. La prevención de infecciones es uno de los pilares fundamentales en el abordaje integral de los pacientes con EII. En este trabajo se resumen las conclusiones consensuadas en el Grupo de Trabajo de Inmunología Pediátrica de la Sociedad Argentina de Pediatría, sobre la base de la revisión de la evidencia disponible, respecto a los principios esenciales para el cuidado, la prevención de infecciones y la quimioprofilaxis en los errores innatos de la inmunidad para la orientación del pediatra y especialista dedicados al seguimiento de estas enfermedades.

Inborn errors of immunity, previously named primary immunodeficiency are a heterogeneous group of genetic defects of different components of the immune system. Patients present high susceptibility to an only or several microorganisms, developing recurrent infections; the severity is related to the specific genetic type of immunity defect. The main strategy on the management of these illness is the prevention of infections. These consensus guidelines made by the Pediatric Immunology Work Group of Sociedad Argentina de Pediatría, givese main approaches of infection prevention in order to provide a useful tool for all practitioners who are involved in the management of these patients, based on scientific evidence and broad consensus of a specialized panel expert.