Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report.

Objectives: Giant inclusions in leukocytes is a common feature that can be observed in some infections but can be also related to rare genetic disorders such as Chédiak-Higashi syndrome (CHS). A differential diagnosis between these groups of diseases has to be performed using specific genetic tests. Clinical and pathological history is relevant for a diagnostic orientation due to the difficulty and specificity of the diagnostic confirmation. Case presenation: We present the case of a 3-years-old male patient with recurrent respiratory infections. It is important to highlight the presence of a lock of white hair on the front of the head and some hypopigmentation of the skin. In the blood smear, the presence of big cytoplasm granules in all the leukocytes, especially in neutrophils. Conclusions: CHS is an uncommon genetic disorder caused by the mutation in the LYST gene situated in chromosome 1q42.3 which codified for LYST protein. Molecular genetic testing also can be done to detect the biallelic variants in the LYST gene. It is essential to perform peripheral blood smears in the presence of changes in quantitative and/or qualitative values in the complete blood count as a first step in the diagnosis algorithm.

Evaluation of the New Beckmann Coulter Analyzer DxH 900 Compared to Sysmex XN20: Analytical Performance and Flagging Efficiency.

Efficiency and accuracy in automated hematology analyzers are very important for clinical laboratories. The purpose was to evaluate the flags and results reported by the newest Beckman Coulter analyzer DxH 900 compared to the Sysmex XN20 system. Samples were analyzed on the XN20 (Sysmex, Kobe, Japan) and on the Beckman Coulter DxH 900 (Beckman Coulter, Miami, Florida, USA). Slide reviews were performed microscopically. Morphologic criteria were used to identify abnormal cells as recommended by International Consensus Group for Hematology (ICSH): blasts, immature granulocytes (IG%), abnormal lymphocytes (ALs) and plasma cells. Results: there was a strong correlation between the analyzers in almost all clinical parameters tested. Both DxH 900 and XN20 showed an excellent degree of association for the leukocyte differential compared to the reference method (manual microscopy). When it comes to IG%, XN20 showed a positive bias for higher results. Related to platelets, there are no differences between the two methods for PLT count. For mean platelet volume (MPV), DxH 900 provided 100% results of the samples analyzed while XN20 while in the XN20 analyzer, 16% of the results were missing. From our results we came to the conclusion that both analyzers, DxH 900 and XN20 were clinically accurate and efficient. Abnormal Lymphocyte detection highlighted the differences between the two technologies as only minimal agreement was obtained. DxH 900 demonstrated higher sensitivity in detecting IG with good correlation with microscopic review. The DxH 900 for platelet clumps identification provides an excellent flag (PLT Clumps) with the highest sensitivity observed in our evaluation.

Detection of SARS-CoV-2 Infection in Human Nasopharyngeal Samples by Combining MALDI-TOF MS and Artificial Intelligence.

The high infectivity of SARS-CoV-2 makes it essential to develop a rapid and accurate diagnostic test so that carriers can be isolated at an early stage. Viral RNA in nasopharyngeal samples by RT-PCR is currently considered the reference method although it is not recognized as a strong gold standard due to certain drawbacks. Here we develop a methodology combining the analysis of from human nasopharyngeal (NP) samples by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) with the use of machine learning (ML). A total of 236 NP samples collected in two different viral transport media were analyzed with minimal sample preparation and the subsequent mass spectra data was used to build different ML models with two different techniques. The best model showed high performance in terms of accuracy, sensitivity and specificity, in all cases reaching values higher than 90%. Our results suggest that the analysis of NP samples by MALDI-TOF MS and ML is a simple, safe, fast and economic diagnostic test for COVID-19.

Fractional-order model predictive control as a framework for electrical neurostimulation in epilepsy.

Objective.Electrical neurostimulation is an increasingly adopted therapeutic methodology for neurological conditions such as epilepsy. Electrical neurostimulation devices are commonly characterized by their limited sensing, actuating, and computational capabilities. However, the sensing mechanisms are often used only for their detection potential (e.g. to detect seizures), which automatically and dynamically trigger the actuation capabilities, but ultimately deploy prespecified stimulation doses that resulted from a period of manual (and empirical) calibration. The potential information contained in the measurements acquired by the sensing mechanisms is, therefore, considerably underutilized, given that this type of stimulation strategy only entails an event-triggered relationship between the sensors and actuators of the device. Such stimulation strategies are suboptimal in general and lack theoretical guarantees regarding their performance.Approach.In order to leverage the aforementioned information, harvested during normal sensing-actuating operation, we must consider a real-time feedback (closed-loop) strategy. More precisely, the stimulation signal itself should automatically adapt based upon the state of the neurophysiological system at hand, estimated from data collected in real-time through sensors in the device.Main results.In this work, we propose a model-based approach for (real-time) closed-loop electrical neurostimulation, in which the evolution of the system is captured by a fractional-order system (FOS). More precisely, we propose amodel predictive control(MPC) approach with an underlying FOS predictive model, due to the ability of fractional-order dynamics to more accurately capture the long-term dependence present in biological systems, compared to the standard linear time-invariant models. Furthermore, MPC offers, by design, an additional layer of robustness to compensate for system-model mismatch, which the more traditional strategies lack. To establish the potential of our framework, we focus on epileptic seizure mitigation by computational simulation of our proposed strategy upon seizure-like events. Lastly, we provide evidence of the effectiveness of our method on seizures simulated by commonly adopted models in the neuroscience and medical community present in the literature, as well as real seizure data as obtained from subjects with epilepsy.SignificanceOur study thus paves the way for the development and implementation of robust real-time closed-loop electrical neurostimulation which can then be used for the construction of more effective devices for epileptic seizure mitigation.

Estruma ovárico / Struma ovarii

Introducción: 20 por ciento de los tumores ováricos son de células germinales; y, aunque muchos no pueden ser clasificados por citología, los teratomas sí, y entre estos, el estruma formado por tejido tiroideo. Reconocerlo, ayuda al patólogo en el manejo de la biopsia intraoperatoria y define el proceder clínico quirúrgico. Presentación del caso: mujer de 29 años atendida en urgencias por dolor en región inguinal derecha. Al examinarla se constató tumoración de alrededor de 8 cm en región pélvica derecha, dolorosa al palparla. En el tacto vaginal se percibió masa tumoral gonadal de consistencia firme. El ultrasonido arrojó en el ovario derecho una imagen ecolúcida de paredes gruesas con imágenes hipoecogénicas en su interior, con bordes irregulares de 67 x 97 mm, e imagen ecogénica que ocupa el 20 % de la lesión, con pobre patrón vascular. Conclusiones: los datos clínicos, y los exámenes imagenológicos y citológicos, permiten diagnosticar un estruma ovárico benigno(AU)

Introduction: twenty percent of ovarian tumors are of germinal cells and although many cannot be classified through cytology, teratomes can, and among them, the struma formed by the thyroid tissue. Recognizing this fact helps the pathologist to manage intraoperative biopsy and to define the surgical clinical procedure. Case presentation: a 29 years-old woman seen in the emergency service to relieve pain in her right inguinal region. On the physical exam, an 8 cm tumor was found in the right pelvic region, causing pain when palpating it. The vaginal exam revealed solid gonadal tumor mass. The ultrasound test showed in the right overy an echolucent image of thick walls with hypoechogenic images inside with 67 x 97 mm irregular contours and echogenic image covering 20 percent of lesion, with poor vascular pattern. Conclusions: clinical data and imaging and cytological exams allow diagnosing benign struma ovarii(AU)

Influencia de la infección por VIH/SIDA sobre algunos indicadores bioquímicos del estado nutricional / Influence of HIV/AIDS infection on some biochemical indicators of the nutritional status

Con el objetivo de analizar la influencia de la infección por el VIH y el estadio clínico de la enfermedad, sobre indicadores bioquímicos del estado nutricional del individuo, se estudió un grupo de individuos infectados y clasificados en diferentes grupos clínicos, de acuerdo con los criterios propuestos por el Centro de Control de las Enfermedades de los Estados Unidos de 1987, así como un grupo control integrado por sujetos seronegativos al VIH y clasificados antropométricamente con un estado nutricional normal. Se analizaron las variaciones experimentadas por las proteínas totales, albúmina, colesterol, triacilglicéridos, urea, ácido úrico y creatinina, según sexo y grupo clínico, para lo cual se realizó la comparación de las medias obtenidas por medio de un análisis de la varianza. Se encontró en los seropositivos asintomáticos al compararlos con los seronegativos, un incremento no significativo de las proteínas totales con disminución significativa de la albúmina, y la creatinina, esta última solo en el sexo masculino. En los pacientes del estadio IV se manifestó la disminución más importante del colesterol y un aumento significativo de los triglicéridos, así como los niveles más bajos de albúmina. La urea y el ácido úrico no experimentaron cambios con significación estadística. Se recomienda la determinación de indicadores bioquímicos en la detección de estados marginales de malnutrición por defecto en individuos VIH/SIDA