PurA is the main target of aurodox, a type III secretion system inhibitor.

Anti-microbial resistance (AMR) is one of the greatest threats to global health. The continual battle between the emergence of AMR and the development of drugs will be extremely difficult to stop as long as traditional anti-biotic approaches are taken. In order to overcome this impasse, we here focused on the type III secretion system (T3SS), which is highly conserved in many Gram-negative pathogenic bacteria. The T3SS is known to be indispensable in establishing disease processes but not essential for pathogen survival. Therefore, T3SS inhibitors may be innovative anti-infective agents that could dramatically reduce the evolutionary selective pressure on strains resistant to treatment. Based on this concept, we previously identified a polyketide natural product, aurodox (AD), as a specific T3SS inhibitor using our original screening system. However, despite its promise as a unique anti-infective drug of AD, the molecular target of AD has remained unclear. In this paper, using an innovative chemistry and genetic biology-based approach, we show that AD binds to adenylosuccinate synthase (PurA), which suppresses the production of the secreted proteins from T3SS, resulting in the expression of bacterial virulence both in vitro and in vivo experiments. Our findings illuminate the potential of PurA as a target of anti-infective drugs and vaccination and could open a avenue for application of PurA in the regulation of T3SS.

Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.

PURPOSE: Rare genetic variants in the PURA gene cause the PURA-related neurodevelopmental disorder (PURA-NDD), characterized by neonatal abnormalities and developmental delay. Using genome-wide DNA methylation analysis on patients with PURA variants, we aim to establish a PURA-NDD-specific methylation profile and provide further insights on the molecular basis of the PURA-NDD. METHODS: Twenty three individuals (including 12 unpublished) carrying PURA variants were enrolled. We conducted the Illumina Infinium EPIC microarray analysis in 17 PURA-NDD individuals. In vitro experiments were performed to examine how PURA variants affect Pur-a expression. RESULTS: Additional phenotypes in 12 newly identified patients were described in this study. Genome-wide DNA methylation analysis unveiled distinctive methylation profiles to PURA-NDD, and the established classifier can reclassify PURA variants of uncertain significance. Patients bearing PURA hapoloinsufficient and missense variants have comparable DNA methylation profiles, and cells expressing these PURA variants showed consistent Pur-a downregulation, suggesting a haploinsufficiency mechanism. CONCLUSION: Patients with PURA-NDD exhibit a specific episignature, which has potential to aid identification and diagnosis of PURA-NDD patients and offer implications for further functional investigations.

Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.

PURA is mapped to chromosome 5q31 and plays a vital role in neuronal development and synapse formation. Here, we aim to explore PURA's impact on cognitive development and epilepsy phenotype by comparing patients with single nucleotide variants (SNPs) in the PURA gene (PURA-SNP patients) to those with 5q31 microdeletions including PURA (5q31del + PURA) and those with 5q31 microdeletions not including the PURA gene (5q31del-PURA). A systematic literature search was conducted in PubMed. Two separate searches were performed in order to find patients with PURA SNPs and 5q31 microdeletions. This review includes data from 191 patients collected from a total of 18 articles; 174 of the patients had PURA SNPs, 13 had 5q31 microdeletions involving the PURA gene, and 4 had 5q31 microdeletions without PURA gene implication. All patients exhibited hypotonia, feeding difficulties and dysmorphic features, however epilepsy was primarily present in patients with PURA syndrome, that is, groups PURA-SNP and 5q31del + PURA. Regarding the developmental milestones the 5q31del + PURA group stood out as being the most severe, while the 5q31del-PURA group showed a relatively mild phenotype. Our findings support the hypothesis of PURA being the key contributor of developmental delay and epilepsy among patients with PURA syndrome.

Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.

Purine-rich element-binding protein A (PURα) regulates multiple cellular processes. Rare de novo mutations can lead to PURA syndrome, which manifests as a range of multisystem disturbances, including hypotonia, global developmental delay, swallowing disorders, apnea, seizures, visual impairments, and congenital heart defects. We report the case of a Colombian girl with no relevant medical history who was diagnosed with PURA syndrome at the age of 7, due to a heterozygous mutation located at 5q31.2, specifically the variant c.697_699del (p.Phe233del), in exon 1 of the PURA gene. This represents the first documented case of PURA syndrome in South America and the first association of the syndrome with vitiligo, thereby expanding the known phenotypic spectrum. In addition to enriching the literature concerning the phenotypic diversity of PURA syndrome, this report highlights, for the first time, the diagnostic challenges faced by developing countries like Colombia in diagnosing high-burden rare diseases such as PURA syndrome.

PURA and GLUT1: Sweet partners for brain health.

PURA, also known as Pur-alpha, is an evolutionarily conserved DNA/RNA-binding protein crucial for various cellular processes, including DNA replication, transcriptional regulation, and translational control. Comprising three PUR domains, it engages with nucleic acids and has a role in protein-protein interactions. The manifestation of PURA syndrome, arising from mutations in the PURA gene, presents neurologically with developmental delay, hypotonia, and seizures. In our prior work from 2018, we highlighted the unique case of a PURA patient displaying hypoglycorrhachia, suggesting a potential association with GLUT1 dysfunction in this syndrome. In this current study, we expand the patient cohort with PURA mutations exhibiting hypoglycorrhachia and aim to unravel the molecular basis of this phenomenon. We established an in vitro model in HeLa cells to modulate PURA expression and investigated GLUT1 function and expression. Our findings indicate that PURA levels directly impact glucose uptake through the functioning of GLUT1, without influencing significantly GLUT1 expression. Moreover, our study reveals evidence for a possible physical interaction between PURA and GLUT1, demonstrated by colocalization and co-immunoprecipitation of both proteins. Computational analyses, employing molecular dynamics, further corroborates these findings, demonstrating that PURA:GLUT1 interactions are plausible, and that the stability of the complex is altered when PURA is truncated and/or mutated. In conclusion, our results suggest that PURA plays a pivotal role in driving the function of GLUT1 for glucose uptake, potentially forming a regulatory complex. Additional investigations are warranted to elucidate the precise mechanisms governing this complex and its significance in ensuring proper GLUT1 function.

PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.

Mutations in the human PURA gene cause the neurodevelopmental PURA syndrome. In contrast to several other monogenetic disorders, almost all reported mutations in this nucleic acid-binding protein result in the full disease penetrance. In this study, we observed that patient mutations across PURA impair its previously reported co-localization with processing bodies. These mutations either destroyed the folding integrity, RNA binding, or dimerization of PURA. We also solved the crystal structures of the N- and C-terminal PUR domains of human PURA and combined them with molecular dynamics simulations and nuclear magnetic resonance measurements. The observed unusually high dynamics and structural promiscuity of PURA indicated that this protein is particularly susceptible to mutations impairing its structural integrity. It offers an explanation why even conservative mutations across PURA result in the full penetrance of symptoms in patients with PURA syndrome.

PURA syndrome is a neurodevelopmental disorder that affects about 650 patients worldwide, resulting in a range of symptoms including neurodevelopmental delays, intellectual disability, muscle weakness, seizures, and eating difficulties. The condition is caused by a mutated gene that codes for a protein called PURA. PURA binds RNA ­ the molecule that carries genetic information so it can be translated into proteins ­ and has roles in regulating the production of new proteins. Contrary to other conditions that result from mutations in a single gene, PURA syndrome patients show 'high penetrance', meaning almost every reported mutation in the gene leads to symptoms. Proske, Janowski et al. wanted to understand the molecular basis for this high penetrance. To find out more, the researchers first examined how patient mutations affected the location of the PURA in the cell, using human cells grown in the laboratory. Normally, PURA travels to P-bodies, which are groupings of RNA and proteins involved in regulating which genes get translated into proteins. The researchers found that in cells carrying PURA syndrome mutations, PURA failed to move adequately to P-bodies. To find out how this 'mislocalization' might happen, Proske, Janowski et al. tested how different mutations affected the three-dimensional folding of PURA. These analyses showed that the mutations impair the protein's folding and thereby disrupt PURA's ability to bind RNA, which may explain why mutant PURA cannot localize correctly. Proske, Janowski et al. describe the molecular abnormalities of PURA underlying this disorder and show how molecular analysis of patient mutations can reveal the mechanisms of a disease at the cell level. The results show that the impact of mutations on the structural integrity of the protein, which affects its ability to bind RNA, are likely key to the symptoms of the syndrome. Additionally, their approach used establishes a way to predict and test mutations that will cause PURA syndrome. This may help to develop diagnostic tools for this condition.

PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review.

PURA syndrome is a congenital developmental disorder caused by de novo mutations in the PURA gene, which encodes a DNA/RNA-binding protein essential for transcriptional and translational regulation. We present the case of an 11-year-old patient with a de novo frameshift variant in the PURA gene, identified through whole exome sequencing (WES). In addition to the classical PURA deficiency phenotype, our patient exhibited pronounced sialorrhea and seizures, which were effectively treated with the ketogenic diet (KD). Our integrative approach, combining a literature review and bioinformatics data, has led to the first documented clinical case showing improvement in both sialorrhea and seizures with KD treatment, a phenomenon not previously reported. Although a direct relationship between the de novo PURA mutation and the KD was not established, we identified a novel frameshift deletion associated with a new clinical phenotype.

Síndrome PURA en una niña con retraso grave del desarrollo: un diagnóstico desafiante / PURA syndrome in a child with severe developmental delay: a challenging diagnosis

Introducción: El síndrome PURA es una condición autosómica dominante poco común causada por variantes patogénicas de novo en el gen PURA y que se caracteriza por un fenotipo multisistémico que incluye retraso del neurodesarrollo global, hipotonía temprana, ausencia de habla, dificultades para alimentarse, hipersomnolencia, epilepsia y trastornos del movimiento. Caso clínico: Presentamos una niña de 9 años con hipotonía y dificultades para alimentarse con retraso del crecimiento desde el período neonatal. A la edad de 3 años era evidente el retraso motor e intelectual, tenía una marcha de base amplia, no hablaba y una respuesta de sobresalto acústico exagerada. Desarrolló estereotipias de mano-boca y epilepsia a los 6 años. La monitorización electroencefalográfica continua de 24 horas reveló una actividad lenta global y una actividad epileptiforme frecuente en las áreas temporal izquierda y centrotemporal. La resonancia magnética del cerebro reveló un retraso en la mielinización. A los 6 años, la secuenciación clínica del exoma identificó una variante patógena heterocigótica en el gen PURA, c.153delA p. (Leu54CysfsTer24). Conclusión: El síndrome PURA tiene características clínicas similares a otros trastornos neurológicos, pero la asociación con algunas características clínicas, no tan comunes en otras entidades neurológicas, como no poder hablar, pero poder seguir órdenes simples, y una respuesta de sobresalto acústico exagerado, deben ser factores de sospecha de síndrome PURA y servir para realizar un análisis genético para confirmar el diagnóstico y proporcionar una intervención multidisciplinar precoz.(AU)

Introduction: PURA syndrome is a rare autosomal dominant condition caused by de novo pathogenic variants in PURA gene and characterized by a multisystemic phenotype that includes global neurodevelopmental delay, early hypotonia, absence of speech, feeding difficulties, hypersomnolence, epilepsy and movement disorders. Case report: We report a 9-year-old girl with hypotonia and feeding difficulties with failure to thrive since the neonatal period. At the age of 3 years motor and intellectual delay were evident, she had a wide-based gait, no speech and an exaggerated acoustic startle response. She developed hand-mouthing stereotypies and epilepsy at 6 years old. The 24 hours continuous electroencephalogram monitoring revealed global slow activity and frequent epileptiform activity in left temporal and centrotemporal areas. The brain MRI revealed delayed myelination. At 6 years old the clinical exome sequencing identified a heterozygous pathogenic variant in the PURA gene, c.153delA p.(Leu54CysfsTer24). Conclusion: PURA syndrome has clinical features similar to other neurological disorders but the association with some clinical features, not as common in other neurological entities, like never being able to speak but being able to follow simple orders and exaggerated acoustic startle response, should raise the suspicion of PURA syndrome and genetic analysis must be performed to confirm the diagnosis and provide early multidisciplinary intervention.(AU)

Aplasia pura de células rojas como forma de presentación de lupus eritematoso sistémico / Pure red cell aplasia as a presentig form of systemic lupus erythmatosus

La aplasia pura de células rojas (APCR) es un síndrome definido por anemia normocítica normocrómica, con reticulopenia severa y reducción importante o ausencia absoluta de precursores eritroides en la médula ósea. Ocasionalmente se desencadena en el curso de una colagenopatía o una enfermedad autoinmune. Presentamos el primer caso descripto en la literatura de un varón con APCR como forma de debut de lupus eritematoso sistémico (LES). Se trata de un hombre de 65 años que presentó anemia normocítica normocrómica, ANA 1/5120 y anti-Sm 2,61. Refería úlceras orales, poliartralgias, tumefacción de ambos tobillos y fotosensibilidad. Se realizó estudio de médula ósea con evidencia de hipoplasia de serie roja por paro madurativo a nivel de eritroblasto basófilo, ausencia casi completa de los elementos maduros y contenido muy elevado de proeritroblastos de gran tamaño. Con el diagnóstico de APCR como debut de LES, se lo trató con prednisona con buena respuesta. Podemos concluir que el despistaje de enfermedades sistémicas en pacientes con APCR es esencial para asegurar un correcto manejo y un mejor pronóstico.

Pure red cell aplasia (PRCA) is a syndrome defined by normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Occasionally it is triggered in the course of collagen or autoimmune diseases. We present the first case reported in the literature of a man with PRCA as the onset form of systemic lupus erythematosus (SLE). A 65-year-old man, who presented normocytic normochromic anemia, ANA 1/5120 and anti-Sm 2,61. He reported oral ulcers, polyarthralgia, swelling of both ankles and photosensitivity. Bone marrow examination showed red cell line hypoplasia due to maturation arrest at the level of the basophilic erythroblast, almost absence of mature cells, and a very high content of large proerythroblasts. With the diagnosis of PRCA as the first manifestation of SLE, he was successfully treated with Prednisone. We can conclude that screening for systemic diseases in patients with PRCA is essential to ensure correct management and a better prognosis.

Integración de la filosofía de Charles Peirce en la Ciencia de la Información / Integration of Charles Peirce's philosophy into information science

Este artículo tuvo como objetivo comprender la integración de la filosofía de Charles Peirce en la Ciencia de la Información. Desde el punto de vista metodológico, se trata de una investigación cualitativa y cuantitativa con el uso de técnicas bibliométricas. Los datos bibliográficos se recopilaron de cuatro bases de datos, dos específicas de Ciencias de la Información: Bibliotecas y Resúmenes de Ciencias de la Información de ProQuest - LISA y la base de datos de referencia de artículos de revistas en Ciencias de la Información; y dos multidisciplinarias: Scopus y Web of Science. Los resultados muestran que la filosofía Peirceana se está consolidando como una contribución teórica importante en las investigaciones y publicaciones de Ciencias de la Información, considerando el número relativamente significativo (114) de publicaciones recuperadas de las bases de datos antes mencionadas. Estos trabajos abordan el pragmatismo en estudios sobre gestión del conocimiento, sistemas de información, filosofía de la información, así como en la organización del conocimiento, especialmente relacionados con la comprensión o el proceso inferencial de indexación en sistemas de información. El artículo concluye que existe un interés creciente entre la comunidad científica de las Ciencias de la Información por desarrollar la filosofía de Peirce de una manera holística, no limitada al primer nivel de la semiótica peirceana, la gramática especulativa, ya que también incluye estudios que profundizan en la inferencia, proceso vinculado a la Lógica Pura(AU)

The purpose of the study was to understand the integration of Charles Peirce's philosophy into information science. From a methodological point of view, it is a qualitative and quantitative study based on bibliometric techniques. The bibliographic data were obtained from four databases, two specifically related to information sciences: ProQuest - LISA Information Sciences Libraries and Abstracts, and the reference database for articles from information sciences journals; and two multidisciplinary databases: Scopus and Web of Science. Results show that Peircean philosophy is gradually consolidating as an important theoretical contribution in information sciences studies and publications, considering the relatively significant number (114) of publications retrieved from the aforementioned databases. These studies address pragmatism in research about knowledge management, information systems, information philosophy and knowledge organization, particularly as related to understanding or the inferential indexing process in information systems. The article concludes that there is a growing interest by the information sciences scientific community to develop Peirce's philosophy in a holistic manner, not limited to the first level of Peircean semiotics and speculative grammar, for it also includes studies dealing with inference, a process related to pure logic(AU)

Pure red-cell aplasia secondary to pregnancy: Case report and review of the literature / Aplasia eritroide pura secundaria a embarazo: reporte de un caso y revisión de la literatura

RESUMEN Objetivo: Reportar el caso de una aplasia eritroide pura secundaria al embarazo y hacer una revisión de la literatura sobre el diagnóstico, tratamiento y pronóstico materno y perinatal. Materiales y métodos: Se presenta el caso de una paciente de 24 años, con embarazo de 34 semanas, remitida a un hospital público de referencia regional por anemia en estudio; se realiza biopsia de médula ósea sobre la que se hace diagnóstico de aplasia eritroide pura asociada al embarazo. Recibe manejo con transfusiones seriadas de glóbulos rojos; se realiza cesárea a término, con recién nacido sano; en su puerperio presenta estabilidad de los valores de hemoglobina. Se realizó búsqueda bibliográfica en las bases de datos electrónicas de Medline vía PubMed, LILACS, SciELO y ScienceDirect, con los términos "embarazo", "aplasia pura de células rojas", "pregnancy" y "pure red-cell aplasia". Se incluyeron reportes de caso, series de casos y revisiones bibliográficas en inglés y español, desde enero de 1999 a enero de 2020, de pacientes gestantes con aplasia eritriode pura. Se tomó información sobre el diagnóstico, tratamiento y pronóstico materno y perinatal. Tres autores seleccionaron los estudios por título y resumen. Se hace síntesis descriptiva. Resultados: se identificaron 828 títulos, de los cuales 818 fueron descartados luego de revisar los criterios de inclusión. Se incluyeron diez artículos: seis reportes de casos, tres reportes de caso con revisión de la literatura, un reporte de caso en la modalidad de poster, para un total de 10 casos re- portados. El diagnóstico se basó en bajos niveles de hemoglobina y compromiso de la línea eritriode en la biopsia de médula. El tratamiento en transfusiones de glóbulos rojos y el pronóstico materno-fetal fueron buenos. Conclusión: el diagnóstico de la aplasia eritroide pura en el embarazo requiere biopsia de médula. El pronóstico materno-perinatal es bueno, con soporte transfusional. Se requieren más estudios para evaluar la seguridad y eficacia de los corticosteroides para esta entidad en el embarazo.

ABSTRACT Objective: To report a case of pure red-cell aplasia secondary to pregnancy and to conduct a review of the literature regarding diagnosis and treatment, as well as maternal and perinatal prognosis. Materials and methods: This is the case of a 24-year-old patient at 34 weeks of gestation, referred to a regional public referral hospital due to anemia. Bone marrow biopsy was performed, leading to the diagnosis of pregnancy-related pure red-cell aplasia. The patient received serial red blood cell transfusions. Delivery by Cesarean section at term resulted in a healthy newborn. Hemoglobin values remained stable during the postoperative period. A literature search was conducted in Medline via PubMed, LILACS, SciELO and ScienceDirect using the terms "pregnancy" and "pure red-cell aplasia". Case reports, case series and literature reviews in English and Spanish published between January 1999 and January 2020 that report pregnant women with pure red-cell aplasia were included. Information on diagnosis, treatment and maternal and perinatal prognosis was collected. Three of the authors selected the studies by title and abstract; A descriptive synthesis is provided. Results: Overall, 828 titles were identified; of these,818 were discarded after reviewing the inclusions criteria. Ten articles were included: six case reports, three case reports with literature review, and one case report in the poster modality, for a total number of 10 reported cases. Diagnosis was based on low hemoglobin levels and compromised erythroid cell line in bone marrow biopsy. Treatment consists of red blood cell transfusions, with good maternal and fetal prognosis. Conclusion: Diagnosis of pure red-cell aplasia during pregnancy requires bone marrow biopsy. With transfusion support, maternal perinatal prognosis is good. Further studies are required to assess the safety and efficacy of steroid use in this pregnancy-related condition.

Disgenesia gonadal pura 46 XX, una causa infrecuente de hipogonadismo: presentación de un caso / Pure gonadal dysgenesis 46 XX, an ucommon cause of hypogonadism: case presentation

El término disgenesia gonadal pura hace referencia a mujeres fenotípicas con infantilismo sexual, amenorrea primaria, hábito eunucoide y un cariotipo 46, XX o 46, XY sin anomalías cromosómicas. Puede asociarse a complicaciones como osteoporosis y síndrome metabólico, elevando el riesgo cardiovascular. Se presenta una paciente femenina de 16 años y 8 meses de edad que acude a consulta de endocrinología por presentar amenorrea primaria.

The term pure gonadal dysgenesis refers to phenotypic women with sexual infantilism, primary amenorrhea an d the eunucoid habit and a 46, XX or 46, XY karyotype without chromosomal abnormalities. It can be associated with complications such as osteoporosis and metabolic syndrome, increasing cardiovascular risk. We present a female patient of 16 years and 8 months of age who attended endocrinology clinic for presenting primary amenorrea.

Aplasia pura de serie roja adquirida y enfermedad renal crónica en terapia de sustitución renal tipo hemodiálisis / Acquired pure aplasia of red cells and chronic kidney disease in renal replacement therapy type hemodialysis

La aplasia pura de serie roja (APSR) adquirida es un trastorno hematopoyético poco frecuente caracterizado por anemia normocítica y normocrómica, reticulocitopenia y ausencia de precursores eritroides en la médula ósea, frecuencia que ha ido incrementando en pacientes con enfermedad renal crónica. Presentamos el caso de un varón de 38 años de edad, con hipertensión arterial sistémica, en terapia hemodialítica. En su evolución cursa con anemia aguda, tras protocolo de estudio se objetivó una aplasia pura de células eritroides por anticuerpos anti eritropoyetina, el paciente recibió bolos de ciclofosfamida, quimioprofilaxis, terapia dialítica, se suspendió la eritropoyetina, presentando buena evolución, efectuándose posteriormente el trasplante renal.

Acquired pure red cells aplasia (PRCA) is a rare hematopoietic disorder characterized by normocytic and normochromic anemia, reticulocytopenia and absence of erythroid precursors in bone marrow, frequency that has been increasing in patients with chronic kidney disease. We present the case of a 38-year-old man with systemic hypertension in hemodialysis therapy. During the course of the disease, acute anemia was observed. After a study protocol, pure erythroid cell aplasia was detected by antierythropoietin antibodies, the patient received boluses of cyclophosphamide, chemoprophylaxis, dialysis therapy, erythropoietin was suspended, with favorable evolution. Subsequently, the kidney transplant.

Rehabilitación neuropsicológica de un caso con sintomatología de afasia de conducción y anómica por evento isquémico / Neuropsychological rehabilitation in a case of conduction and anomic aphasia symptomatology by ischemic event

El tema de la rehabilitación de las afasias es explorado con frecuencia en la literatura de las últimas décadas, debido a que es una de las secuelas más comunes del daño cerebral y de las que más presenta variaciones dependiendo del caso, por lo cual los profesionales a cargo de los pacientes que sufren de esta condición se ven en la necesidad de buscar métodos eficaces para tratarlos. El objetivo de esta investigación es mostrar el diseño de un único caso con sintomatología de afasia de conducción y anomia pura. Se trata de un paciente masculino de 62 años de edad, con nivel académico de doctorado, diagnóstico de afasia de conducción y anomia a causa de un evento isquémico con 18 meses de evolución. Recibió tratamiento neuropsicológico en base a modelos histórico-culturales y neurocognitivos en dos periodos diferentes, una hora por semana. Se llevó a cabo una evaluación neuropsicológica antes y después del programa de rehabilitación, además se hizo uso de líneas bases en ambos periodos y se tomó en cuenta la perspectiva del paciente y su esposa. El rendimiento en la primera y segunda evaluación muestra un mejor desempeño en algunas áreas del lenguaje, mientras que en las líneas bases y en la apreciación del paciente y su esposa se observaron cambios importantes, concluyendo que el programa tuvo efectos favorables en la comunicación del paciente en el hogar.

The subject of aphasia rehabilitation is frequently explored in recent literature since it is one of the most common forms of brain damage and presents an assortment of variations depending on the specific case, making it so that professionals who are in charge of patients with this condition find themselves in need of effective treatment methods. This article aims to present the design for the single case study rehabilitation of a patient with conduction aphasia and pure anomia. The patient in question is a 62-year-old male with a P.h.D. level education, diagnosed with conduction aphasia and anomia caused by an ischemic event with an 18-month evolution, he received neuropsychological treatment following the historic-cultural and neurocognitive models, spanning two different treatment periods, one hour a week. A neuropsychological evaluation was made before and after the rehabilitation program, as well as using a baseline for both periods and taking into account the perspective of both the patient and his wife. Patient performance in the first and second evaluations shows improvement in some language areas, while the baselines, as well as the patient and his wife's assessment speak of important changes, concluding that the program had favorable effects on the patient's communication at home

Aplasia pura de células rojas secundaria a infección por parvovirus B19 en paciente VIH positivo / Pure red cell aplasia secondary to parvovirus B19 infection in an HIV positive patient

Resumen La infección crónica por parvovirus B19 en pacientes seropositivos para el virus de inmunodeficiencia humana (VIH) es una causa identificable y tratable de anemia en esta población, que en nuestro medio aún no ha sido muy estudiada. La búsqueda activa de este patógeno en pacientes VIH positivos con anemia grave sin compromiso de otras líneas celulares puede llevar a una mejoría en la calidad de vida en el tiempo y reducción de los costos de la enfermedad para el sistema de salud. Nosotros presentamos el caso de un paciente con síndrome de inmunodeficiencia adquirida y anemia a quien se le identifico parvovirus B19. (Acta Med Colomb 2018; 43: 42-44).

Abstract The chronic infection by parvovirus B19 in seropositive patients for the human immunodeficiency virus (HIV) is an identifiable and treatable cause of anemia in this population, which in our environment has not yet been widely studied. The active search for this pathogen in HIV positive patients with severe anemia without compromising other cell lines can lead to an improvement in the quality of life over time and reduction of the costs of the disease to the health system. We present the case of a patient with acquired immunodeficiency syndrome and anemia who was identified as parvovirus B19. (Acta Med Colomb 2018; 43: 42-44).

Agkistrodon bilineatus. Experimentación pura / Agkistrodon bilineatus. Pure experimentation

El presente trabajo muestra una experimentación pura basada en la preparación homeopática del veneno de la serpiente Agkistrodon bilineatus, algo que ha demostrado su eficacia en diferentes aplicaciones clínicas que datan de la época de Constantine Hering, uno de los pioneros de la Homeopatía en Estados Unidos. Los resultados son alentadores, toda vez que los órganos con mayor número y diversidad de síntomas fueron el sistema nervioso central, los ojos, así como los aparatos respiratorio y digestivo. En conclusión, este derivado del veneno de la serpiente en referencia, preparado homeopáticamente, puede emplearse debido a que se generó una patogenesia concreta en un grupo de experimentadores.

Monoparesia motora pura braquial como manifestación de infarto cerebral cardioembólico: Reporte de un caso / Pure motor monoparesis as a manifestation of cardioembolic cerebral infarction: Case report

La monoparesia motora pura (MMP) es un déficit motor aislado en una extremidad, superior o inferior, producido por un evento vinculado a enfermedad cerebrovascular. Es un trastorno raro y podría confundirse con otras causas de déficit motor por lo que la diferenciación con otras etiologías se debe realizar a través de una adecuada evaluación clínica y de estudios de neuroimágenes. Se reporta el caso de una paciente de 56 años de edad con antecedente de hipertensión arterial, que debuta súbitamente con una monoparesia motora pura braquial izquierda. En la IRM cerebral se evidenció hiperintensidad en los protocolos de FLAIR y difusión e hipointensidad en el coeficiente de difusión aparente (ADC) en el territorio de arteria cerebral media derecha, segmento M4, correspondiente al área prerolándica en la distribución somatotópica del miembro superior. Se discuten diferentes aspectos etiológicos y de tratamiento de este cuadro. En pacientes que presenten déficit motor agudo de una extremidad, con historia de factores de riesgo vascular, debe considerarse activamente la posibilidad diagnóstica de MMP.

The pure motor monoparesis (PMM) is an isolated motor deficit in an upper or lower extremity usually related to a cerebro-vascular disease. It is a rare condition that can be easily confounded with other pathologies, reason for which should be carefully differentiated through clinical assessment and neuroimaging studies. We report the case of a 56 year-old woman who suddenly presented pure left brachial monoparesis as a manifestation of a right middle cerebral artery stroke. Brain MRI showed a hyperintensity in FLAIR and diffusion protocols, and a subintensity in the apparent diffusion coefficient (ADC) in the territory of M4 segment of the right middle cerebral artery, corresponding to the prerolandic area in the somatotopical distribution of the upper limb. Different etiologies of an management strategies for this condition are discussed. The diagnosis of PMM due to ischemic stroke should be considered in patients presenting an acute motor deficit in one extremity, braquial or crural, and with history of vascular risk factors.

¿Cuándo lo imparcial se convierte en sesgo? El dilema de las patogenesias homeopáticas y los modernos métodos de investigación / When does the impartial become bias? The dilemma of homeopathic pathogenesis and modern research methods

Desde los años sesenta, los homeópatas, junto con los físicos biomédicos, generalmente han reconocido al ensayo de control doble ciego aleatorio (ECA) como el "estándar de oro" para establecer la eficacia en una intervención clínica. Sin embargo, la profesión homeopática se ha mostrado ambivalente respecto a la incorporación del modelo ECA para la validación interna de los medicamentos homeopáticos. Este texto muestra importantes elementos del ECA, como la evaluación ciega, la aleatoriedad y la inferencia estadística, examinando algunos de los elementos históricos y científicos acerca de su inclusión en las experimentaciones homeopáticas.

Report of a case of paroxysmal nocturnal hemoglobinuria (PNH) with complex evolution and liver transplant / Relato de um caso de hemoglobinúria paroxística noturna (HPN) com evolução complexa e transplante hepático

ABSTRACT The paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disease, with thrombotic episodes and frequent pancytopenia. We report the case of a 32 year-old female PNH patient with bone marrow aplasia, which followed a complex course, diagnosed with aplastic anemia associated with PNH, evolving in three years with Budd-Chiari syndrome and liver transplantation. Post-transplant complications, hepatic arterial thrombosis, graft rejection, liver retransplantation and treatment of PNH with eculizumab. Clinical stabilization and cessation of symptoms were achieved.

RESUMO Hemoglobinúria paroxística noturna (HPN) é uma doença rara, adquirida, com episódios trombóticos e pancitopenia frequente. Relatamos o caso de uma paciente jovem, 32 anos, sexo feminino, portadora de HPN e aplasia de medula, com evolução complexa e diagnóstico de anemia aplástica associada à HPN, evoluindo em três anos com síndrome de Budd-Chiari e transplante hepático. Complicação pós-transplante, trombose arterial hepática, rejeição do enxerto, retransplante hepático e tratamento da HPN com eculizumab. Obtiveram-se estabilização clínica e cessação dos sintomas.

Fundamentos de la ética / Fundamentals of ethics

En este texto se hace un modesto análisis del estatuto de la ética en Kant y la función del deber y de la ley moral en la vida humana, tomando únicamente como referencia La fundamentación de la metafísica de las costumbres. Con este análisis se pretende mostrar los rendimientos de lectura de un texto con respecto al problema enunciado y se agrega como plus una puesta en tensión entre el deber kantiano y la ley freudiana que, por cierto, es algo que se transmite de uno a uno bajo la forma de castración y se asimila a pesar del sujeto.

This text presents a modest analysis of the status of ethics in Kant and the function of duty and moral law in human life, having as reference only the Groundwork of the Metaphysic of Morals. This a¬na¬lysi¬s aims to show the yields of a reading con-cer¬ning the problem stated. A tension between the Kantian duty and the Freudian law is a plus. The latter, indeed, is transmitted one by one under the form of castration and is assimilated despite the subject.

Dans cet article, nous présenterons une modeste analyse du statut de l'éthique chez Kant et de la fonction du devoir et de la loi morale dans la vie humaine, prenant pour seule référence Fondements de la métaphysique des mœurs. Le but de cette analyse est de montrer les rendements de lecture d'un texte par rapport au problème énoncé. De plus, nous ajouterons la mise en tension entre le devoir kantien et la loi freudienne, par ailleurs transmise individuellement, sous la forme de castration et assimilée malgré le sujet.