Malformaciones congénitas diagnosticadas en el servicio de medicina materno fetal de la Maternidad Concepción Palacios / Congenital malformations diagnosed in the maternal fetal medicine service of the Maternidad Concepción Palacios

Objetivo: Identificar y clasificar las diferentes anomalías del desarrollo diagnosticadas en la unidad de ecografía del servicio de medicina materno fetal de la Maternidad Concepción Palacios entre enero y diciembre de 2023. Métodos: Estudio retrospectivo, descriptivo, transversal que incluyó la evaluación de los 4225 reportes de ultrasonido obstétrico realizados en 2023. Se excluyeron los estudios sin diagnóstico morfológico. Las variables evaluadas fueron características clínicas de las gestantes, prevalencia según tipo de anomalía del desarrollo y según el aparato o sistema afectado. Resultados: Se diagnosticaron anomalías del desarrollo en 282 pacientes, para una frecuencia de 6,7 %. Las anomalías fueron únicas en 187 casos (66,3 %) y múltiples en 95 pacientes (33,7 %). El total de malformaciones fue 360 (8,5 %). El mínimo de lesiones detectadas fue una y el máximo fue tres. El sistema afectado con mayor frecuencia fue el sistema nervioso central, con 104 casos (28,9 %); le siguen, en orden de frecuencia, los marcadores aislados, vistos en 92 pacientes (25,6 %) y las anomalías cardiovasculares, en 49 fetos (13,6 %). Conclusión: La frecuencia de malformaciones congénitas diagnosticadas en el año 2023 fue de 6,7 % de las ecografías realizadas en la unidad de ecografía del servicio de medicina materno fetal de la Maternidad Concepción Palacios; en las dos terceras partes de los casos fueron únicas y el tercio restante fueron múltiples. En orden de frecuencia, los sistemas afectados fueron sistema nervioso central, marcadores aislados de aneuploidías y anomalías cardiovasculares(AU)

Objective: To identify and classify the different developmental anomalies diagnosed in the ultrasound unit of the maternal-fetal medicine service of the Concepción Palacios Maternity Hospital between January and December 2023. Methods: Retrospective, descriptive, cross-sectional study that included the evaluation of the 4225 obstetric ultrasound reports performed in 2023. Studies without morphological diagnosis were excluded. The variables evaluated were clinical characteristics of the pregnant women, prevalence according to type of developmental anomaly and according to the affected apparatus or system. Results: Developmental abnormalities were diagnosed in 282 patients, with a frequency of 6.7%. The anomalies were single in 187 cases (66.3%) and multiple in 95 patients (33.7%). The total number of malformations was 360 (8.5%). The minimum number of injuries detected was one and the maximum was three. The most frequently affected system was the central nervous system, with 104 cases (28.9%); This is followed by isolated markers, seen in 92 patients (25.6%), and cardiovascular anomalies, in 49 fetuses (13.6%). Conclusion: The frequency of congenital malformations diagnosed in 2023 was 6.7% of the ultrasound scans performed in the ultrasound unit of the maternal-fetal medicine service of the Concepción Palacios Maternity Hospital; Two-thirds of the cases were singles and the remaining third were multiples. In order of frequency, the affected systems were central nervous system, isolated markers of aneuploidies, and cardiac anomalies(AU)

Listeria monocytogenesy mecanismo de caballo de Troya a través de la barrera hematoencefálica / isteria monocytogenesand Trojan horse mechanism across the blood-brain barrier

Las infecciones del sistema nervioso central son potencialmente mortales, causadas por patógenos, como bacterias, virus y hongos. Para llegar hasta el cerebro, los microorganismos utilizan diversas vías y formas. Este patogeno es una bacteria grampositiva corta, flagelar e intracelular, con la capacidad de inducir su internalización en células fagocíticas (monocitos/macrófagos) y no fagocíticas (células endoteliales). Al infectar los macrófagos, estos microorganismos se valen de su capacidad de fijación, adhesión y migración transendotelial, para cruzar la barrera hematoencefálica, finalmente, generando meningitis bacteriana. En esta revisión describimos el mecanismo de caballo de Troya usado por Listeria monocytogenespara invadir el cerebro en el desarrollo de enfermedades infecciosas e incorporamos nuevos conocimientos sobre moléculas que intervienen en dicho mecanismo(AU)

Central nervous system infections are life-threatening, caused by pathogens such as bacteria, viruses and fungi. To access the brain, microorganisms use various mechanisms. Listeria monocytogenes is a short, flagellar and intracellular gram-positive bacterium, with the ability to induce its internalization in phagocytic (monocytes/macrophages) and non-phagocytic (endothelial cells) cells. By infecting macrophages, these microorganisms take advantage of their binding, adhesion, and transendothelial migrationcapacity to cross the blood-brain barrier, finally generating bacterial meningitis. In this review we describe the Trojan horse mechanism used by Listeria monocytogenesto invade the brain in the development of infectious diseases and we incorporate new knowledge about molecules that intervene in this mechanism(AU)

A fase terminal do filho com câncer: percepções dos profissionais hospitalares / The terminal phase of children with cancer: perceptions of hospital professionals / La fase terminal del hijo con cáncer: percepciones de los profesionales del hospital

O confronto com o câncer de um filho e a percepção da sua morte como inevitável dão lugar a experiências parentais relevantes para a pesquisa científica. Este estudo teve como objetivo investigar, por meio da percepção dos profissionais hospitalares, o modo como os pais experienciam a fase terminal e fim de vida do filho com câncer para melhor compreender os processos psicoemocionais experienciados por esses pais diante da cronicidade da doença e da morte do filho. No sentido de alcançar esse objetivo, realizou-se um estudo qualitativo de tipo fenomenológico envolvendo 17 profissionais de dois hospitais portugueses de referência em oncologia pediátrica. Os dados foram recolhidos com recurso a um guia de entrevista semiestruturada. Na percepção dos profissionais hospitalares, os resultados evidenciam que esses pais experienciam múltiplas dificuldades e preocupações na fase terminal da doença do filho e no pós-morte, bem como um sofrimento extremo e desestruturação biopsicossocial e espiritual na família. O conhecimento aprofundado da fenomenologia desses processos é essencial para o desenho e a implementação de intervenções emocionais, cognitivas, comportamentais e sociais mais ajustadas às dificuldades e preocupações parentais vividas no fim de vida e pós-morte.(AU)

Coping with children's cancer and the perception of their inevitable death give rise to parental experiences that are important to study. This study aimed to investigate, based on hospital professionals' perspectives, how parents experience the terminal phase and end of life of their children suffering from cancer to better understand the psycho-emotional processes these parents experienced in face of the chronicity of the disease and their children's death. To achieve this objective, a qualitative phenomenological study was carried out involving 17 professionals of two Portuguese hospitals that are reference in pediatric oncology. Data were collected using a semi-structured interview guide. From the perspective of hospital professionals, results show that these parents experience multiple difficulties and concerns in the terminal phase of their children's disease and postmortem, as well as the extreme suffering and biopsychosocial and spiritual disruption of the family. A deeper understanding of the phenomenology of these processes is essential to design and implement better adjusted emotional, cognitive, behavioral, and social interventions aimed at the parental difficulties and concerns experienced at the end of life and after death.(AU)

El enfrentamiento del cáncer de un hijo y la percepción de su muerte como inevitable dan lugar a experiencias parentales importantes que deben ser estudiadas. Este estudio pretende identificar desde la percepción de los profesionales del hospital cómo los padres viven la fase terminal y el final de la vida de su hijo con cáncer con el fin de comprender mejor los procesos psicoemocionales que viven estos padres ante la cronicidad de la enfermedad y la muerte de su hijo. Para ello, se realizó un estudio cualitativo, con enfoque fenomenológico, en el que participaron 17 profesionales de dos hospitales portugueses de referencia en oncología pediátrica. Para recoger los datos se aplicó un guion de entrevista semiestructurada. En cuanto a la percepción de los profesionales del hospital, estos padres experimentaron múltiples dificultades y preocupaciones en la fase terminal de la enfermedad de su hijo y postmuerte, así como un sufrimiento extremo y una desestructuración biopsicosocial y espiritual en la familia. El conocimiento en profundidad de la fenomenología de estos procesos es esencial para elaborar e implementar intervenciones emocionales, cognitivas, conductuales y sociales más acordes a las dificultades y preocupaciones parentales que se experimentan al final de la vida y la postmuerte.(AU)

Cannabinoides y su uso en el tratamiento de patologías digestivas / Cannabinoides and their use in the treatment of digestive pathologies

Man has benefited from Cannabis sativa thousands of years ago, as much as matter premium as a medicinal, religious or recreational product. Different regulations have slowed down its study from the medicinal point of view. The discovery of the endocannabinoid system has boosted research into the qualities of Cannabis, rich in active molecules. Studies initially in neurological diseases, they have been extended to other systems, being the Digestive a plenty Territory of cannabinoid receptors. While Cannabis is associated with multiple adverse effects, in this review we will focus on the evidence that exists in the treatment of various digestive diseases.

El hombre se ha beneficiado de Cannabis sativa hace miles de años, tanto como materia prima como producto medicinal, religioso o recreativo. Distintas regulaciones han frenado su estudio desde el punto de vista medicinal. El descubrimiento del sistema endocannabinoide ha potenciado la investigación sobre las cualidades de Cannabis, rica en moléculas activas. Estudios inicialmente en enfermedades neurológicas, se han ampliado a otros sistemas, siendo el tracto digestivo un territorio rico en receptores cannabinoides. Si bien Cannabis se asocia a múltiples efectos adversos, en esta revisión nos enfocaremos en la evidencia que existe en el tratamiento de diversas enfermedades digestivas.

nteraction between FAK/αB-crystalline is important for viability of the glioblastoma cells

Abstract Glioblastoma multiforme is a tumor of the central nervous system. Focal Adhesion Kinase (FAK) and αB-crystalline are two proteins involved in glioblastoma development. In this study, we investigated whether the FAK/αB-crystalline interaction is important for glioblastoma cells, we aimed to investigate the interaction of these two proteins in the glioblastoma multiforme cell line U87-MG. Two peptides named FP01 peptide (derived from αB-crystalline) and FP02 peptide (derived from FAK) were synthesized for this study. Treatment of U87-MG with the peptides FP01 and FP02 in the concentration at 50 µM reduced the viability cellular to around 41% and 51%, respectively. Morphological alterations in the cells treated with the peptides when compared to the control were observed. This study suggests that the interaction between FAK and αB-crystalline is important for the viability of glioblastoma cells

Application of the Central Nervous System International Prognostic Index (CNS-IPI) score in daily practice: a retrospective analysis apart from the clinical trial at two centers in Brazil

ABSTRACT Introduction: The diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma (NHL) and, despite all the progress in this field, central nervous system infiltration (CNSi) still occurs at an incidence of 2-10%. The objective of the present study was to evaluate the Central Nervous System International Prognostic Index (CNS-IPI) score in daily practice regarding the reproducibility in a heterogeneous cohort apart from a clinical trial. Methods: Primary DLBCL patients were eligible for this study, between January 2007 and January 2017. All patients were treated with rituximab-based chemotherapy, mostly R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone). The CNSi was diagnosed by liquor (positive cytology and/or immunophenotype), computerized tomography, magnetic resonance image and/or fluorodeoxy-glucose-positron emission tomography, requested only in symptomatic patients when the CNSi was clinically suspected. The CNS-IPI was assessed by graphical comparison and calibration. Results: After applying the inclusion/exclusion criteria, 322 patients were available for the analysis. The median follow-up was 60 months and the median age was 58 years. Seven patients experienced CNSi, characterizing an incidence of 2.17% (7/322). Comparing groups of patients with and without CNSi, we observed that the lactate dehydrogenase (LDH), number of extranodal sites, IPI, kidney/adrenal and absence of complete response were statistically different. The CNS-IPI model stratified patients in a three-risk group model as low-, intermediate- and high-risk. In our cohort, using the same stratification, we obtained an equivalent the 2-year rate of CNS relapse of 0.0%, 0.8% and 13.8%, respectively. Conclusion: Our study reinforces the reproducibility of the CNS-IPI, specifically apart from clinical trials, and suggests the CNS-IPI score as a tool to guide therapy.

Estudio del líquido cefalorraquídeo en pacientes con neoplasias hematológicas malignas / Study of cerebrospinal fluid in patients with hematologic malignancies

Introducción: La infiltración del sistema nervioso central por células malignas constituye una complicación grave de algunas neoplasias hematológicas, principalmente leucemias agudas y linfomas agresivos. Objetivo: Resumir la base científica y la significación clínica de los métodos de estudio del líquido cefalorraquídeo para el diagnóstico y el seguimiento de la infiltración neuromeníngea en pacientes con neoplasias hematológicas. Métodos: Se buscó información durante abril de 2021 en las bases de datos PubMed, ScienceDirect y SciELO. Se seleccionaron las publicaciones en base a su tipología, actualidad, alcance y las limitaciones de los estudios. Conclusiones: El estudio citomorfológico del líquido cefalorraquídeo se considera el método estándar para el diagnóstico y el seguimiento de la infiltración neuromeníngea. La citometría de flujo resulta más sensible para la detección de infiltración oculta que la citología convencional; pero aún existen reservas sobre su significación clínica. Se investiga también la sensibilidad de otros estudios moleculares como el uso de la reacción en cadena de la polimerasa y la detección de biomarcadores(AU)

Introduction: Infiltration of the central nervous system by malignant cells constitutes a serious complication of some hematological malignancies, mainly acute leukemias and aggressive lymphomas. Objective: To summarize the scientific basis and clinical significance of cerebrospinal fluid study methods for the diagnosis and follow-up of neuromeningeal infiltration in patients with hematologic malignancies. Methods: Information was searched during April 2021 in PubMed, ScienceDirect and SciELO databases. Publications were selected based on their typology, timeliness, scope, and study limitations. Conclusions: The cytomorphological study of cerebrospinal fluid is considered the standard method for the diagnosis and follow-up of neuromeningeal infiltration. Flow cytometry is more sensitive for the detection of occult infiltration than conventional cytology, but there are still reservations about its clinical significance. The sensitivity of other molecular studies such as the use of PCR and biomarker detection is also investigated(AU)

Malformación completa del sistema nervioso central y otras malformaciones asociadas. A propósito de un caso / Complete malformation of the central nervous system and other associated malformations. A case report

La anencefalia es una anomalía gestacional que produce la ausencia de gran parte del cerebro y del cráneo; aunque se desconoce el motivo principal de su aparición, puede estar relacionado con toxinas ambientales, y pobre ingesta de ácido fólico durante el embarazo. Los fetos que padecen de esta malformación, en su mayoría, no llegan a nacer vivos o mueren a las pocas horas. Se presentó una paciente recibida en emergencia en el Centro de Atención Integral Materno Infantil, municipio Ixchiguan, departamento de San Marcos, Guatemala con embarazo a término, según refirió la paciente, sin atención prenatal, dolor en hipogastrio y pérdida de líquido amniótico de un día de evolución. Siendo este un defecto genético multifactorial, para el cual no existe tratamiento, el único recurso para su prevención fue brindar una atención prenatal pormenorizada con énfasis especial en el programa de genética para la detección precoz de anomalías congénitas.

Anencephaly is a gestational anomaly that produces the absence of a large part of the brain and skull; although the main reason for its appearance is unknown, it may be related to environmental toxins and poor intake of folic acid during pregnancy. Most of the fetuses that suffer from this malformation are not born alive or die within a few hours. We present a female patient who was received in the emergency service of the Comprehensive Maternal and Child Care Center in Ixchiguan municipality, San Marcos department, Guatemala, with a full-term pregnancy, as reported by the patient, without prenatal care, hypogastric pain and loss of amniotic fluid of one day of evolution. Since there is no treatment for this multifactorial genetic defect, the only resource for its prevention was to provide detailed prenatal care with special emphasis on the genetics program for the early detection of congenital anomalies.

Encefalitis autoinmune seronegativa asociada a síndrome de Sjögren primario / Autoimmune seronegative encephalitis associated to primary Sjögren's disease

La encefalitis autoinmune es un trastorno inmunomediado que compromete distintos territorios del parénquima cerebral, involucrando frecuentemente la materia gris profunda o la corteza, con o sin compromiso de la materia blanca, meninges o médula espinal. Se asocia frecuentemente con enfermedades autoinmunes o paraneoplásicas, y constituye un reto diagnóstico. Reportamos el caso de una mujer de 55 años con antecedente de síndrome de Sjögren que consultó a Emergencias por cefalea y confusión. El líquido cefalorraquídeo (LCR) presentaba leucocitosis con neutrofilia. En la resonancia magnética nuclear (RMN) cerebral se evidenciaron múltiples imágenes de comportamiento restrictivo, de señal hiperintensa en T2 y FLAIR, a predominio córtico-subcortical a nivel occipital bilateral, hemisferio cerebeloso derecho y parietal derecho. Se descartaron infecciones y neoplasias. El panel de anticuerpos para encefalitis autoinmune aquaporina-4 y anti-MOG en LCR fue negativo. Recibió metilprednisolona endovenosa con mejoría progresiva de los síntomas.

Autoimmune encephalitis is an immune-mediated disorder that affects different areas of the brain parenchyma, often involving deep gray matter or the cortex, with or without involvement of white matter, meninges, or spinal cord. It is frequently associated with autoimmune or paraneoplastic diseases and is a diagnostic challenge. We report the case of a 55-year-old woman with history of Sjögren's syndrome who presented to the emergency department with headache and episodes of confusion. Cerebrospinal fluid (CSF) analysis showed leukocytosis with neutrophilia. Brain MRI revealed multiple restricted diffusion lesions with hyperintense signal on T2 and FLAIR sequences, predominantly in the bilateral occipital region, right cerebellar hemisphere, and right parietal region. Infections and neoplasms were ruled out. The panel of antibodies for autoimmune encephalitis, including Aquaporin-4 and anti-MOG in CSF, was negative. She received intravenous methylprednisolone, leading to symptom improvement.

Manejo quirúrgico de los tumores difusos de tronco pediátricos / Surgical management of diffuse brainstem high-grade gliomas

Introducción: Los tumores difusos de tronco representan aproximadamente el 10% de los tumores pediátricos de SNC. Dentro de este grupo se encuentran los gliomas difusos de línea media H3K27M, los cuales presentan mal pronóstico, con una media de supervivencia de entre 9 a 15 meses. La búsqueda de marcadores moleculares es una gran herramienta oncológica al momento de desarrollar nuevas terapéuticas para estos pacientes. Es por esto que la biopsia quirúrgica representa, hoy en día, un eslabón fundamental. Objetivos: El objetivo de este artículo es comunicar, mediante la presentación de dos casos clínicos, el manejo de los tumores difusos de tronco pediátricos mediante su biopsia quirúrgica a cielo abierto por abordaje subtemporal. Descripción de casos: Se presentan dos casos de pacientes pediátricos a quienes se les realizó una biopsia de tronco mediante abordaje subtemporal en el año 2022 en el servicio de neurocirugía pediátrica de la Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (Fleni). El resultado de la anatomía patológica en ambos pacientes resultó de glioma difuso de línea media H3K27M. Se realiza además una revisión de la técnica quirúrgica del abordaje subtemporal. Intervención: Ambos pacientes evolucionaron sin complicaciones en el postoperatorio y mantuvieron seguimiento y tratamiento dirigido por oncología. Aun cuando la práctica más utilizada es la biopsia estereotáctica, nosotros preferimos la vía subtemporal a cielo abierto. La misma ha probado resultar efectiva para la obtención de suficiente material tumoral para realizar marcadores oncológicos, con buen control de hemostasia, sin mayores comorbilidades ni demoras en el inicio del tratamiento. Conclusión: Los tumores difusos de tronco pediátricos presentan un pronóstico ominoso, aún realizando tratamiento oncológico dirigido. La biopsia quirúrgica resulta fundamental a fin de obtener un mayor entendimiento respecto a la gran diversidad biológica que subyace a estas entidades y sus opciones terapéuticas, tanto actuales como futuras. El abordaje subtemporal es una excelente vía para realizar su biopsia(AU)

Background: Brainstem diffuse tumors represent approximately 10% of pediatric CNS tumors. Among them, H3K27M-mutant diffuse midline gliomas (DMGs) are rare childhood central nervous system tumors that carry a dismal prognosis, with a mean survival time of 9-15 months. Tumor biopsy is not only helpful for addressing a correct diagnosis, but is also an important strategy for the continuous study of further therapeutic options, given the former known bad prognosis with standard treatment. Objective: Our objective is to communicate, through the presentation of two clinical cases, our experience with these tumors by performing a biopsy through a subtemporal approach. Cases description: Two patients underwent tumor biopsy through a subtemporal approach at our institution in 2022. Both patients presented with MRIs compatible with diffuse pons gliomas. These cases were retrospectively reviewed and the surgical approach described.We also review and compare the different surgical approaches as well as treatment options for this pathology. Surgery: The patients presented no postoperative complication. Both patient's biopsy results were H3K27M-mutant diffuse midline gliomas and underwent oncological treatment and follow up. Although stereotactic biopsy is the most commonly used practice, at our institution we choose to use open surgery through a subtemporal approach. It has proven to provide a better surgical view with a chance of greater biopsy samples, satisfactory bleeding control with no added comorbidities. Nowadays, biopsy has proven fundamental for the treatment and follow up of these patients. Conclusion: DMGs are rare childhood central nervous system tumors that carry a dismal prognosis. Historically, biopsy for brainstem diffuse tumors was used only when the diagnosis was not clear. Nowadays, with the forthcoming of different surgical techniques and the development of new subtypes of molecular targets, the biopsy seems a fundamental step. The subtemporal approach is an excellent alternative to biopsy this pathology(AU)

Rara presentación de un linfoma espinal: informe de caso y diagnóstico mediante resonancia magnética / Rare presentation of a spinal lymphoma: case report and diagnosis by magnetic resonance imaging

El linfoma primario del sistema nervioso central es una forma de enfermedad extraganglionar originada en el cerebro, la leptomeninges, la médula espinal o los ojos. Los tumores espinales son neoplasias de baja prevalencia y pueden causar una morbimortalidad neurológica considerable. El linfoma aislado que surge dentro del conducto dural es la forma menos común de linfoma primario del sistema nervioso central: representa aproximadamente el 1% de los casos y se observa más a menudo en el contexto de diseminación secundaria que como el sitio primario de origen. Los síntomas son inespecíficos y dependen del nivel espinal involucrado. La presentación es insidiosa e incluye dorsalgia, debilidad y dificultad progresiva para la deambulación. La resonancia magnética es la modalidad de elección para búsqueda de lesiones dentro del conducto espinal/raquídeo, en pacientes que presentan síntomas neurológicos. El tratamiento quirúrgico no resulta útil, y el objetivo principal de la cirugía es conocer el diagnóstico histológico. (AU)

A primary central nervous system lymphoma is a form of extranodal disease originating in the brain, leptomeninges, spinal cord, or eyes. Spinal tumors are low-prevalence neoplasms and can cause considerable neurological morbidity and mortality. An isolated lymphoma emerging within the dural canal is the rarest form of primary central nervous system lymphoma: it accounts for approximately 1% of cases occurring more often in the context of secondary dissemination than as the primary site of origin. Symptoms are nonspecific and depend on the spinal level involved. The presentation is insidious and includes dorsalgia, weakness, and progressive difficulty in ambulatory function. MRI is the modality of choice to search for lesions within the spinal/rachial canal in patients presenting with neurological symptoms. Surgical treatment is not helpful, and the main objective of surgery is to know the histological diagnosis. (AU)

Seis casos consecutivos de sarcoma intracraneal primario en niños en dos instituciones privadas de Lima durante la pandemia del COVID-19 / Six consecutive cases of primary intracranial sarcoma in children in two private institutions from Lima during COVID-19 pandemic

Objetivo: El presente artículo describe las características clínicas e imagenológicas de seis pacientes en edad pediátrica con diagnóstico de tumor cerebral atendidos en dos instituciones privadas de Lima durante la pandemia del COVID-19. Material y métodos: Estudio descriptivo de casos de tumor cerebral en pacientes menores de 18 años, atendidos en dos clínicas privadas de Lima, desde marzo 2020 a diciembre 2021. Resultados: Seis casos consecutivos de tumores intracraneales fueron detectados durante la mayor parte del primer año de la pandemia COVID-19 (periodo de octubre del 2020 a marzo del 2021), todos ellos con el diagnóstico de sarcoma intracraneal primario. Antes de la pandemia, el último sarcoma intracraneal primario en niños operado en las instituciones mencionadas ocurrió en junio del 2018 y fue el único caso de este tipo de tumor en el año. Conclusiones: Durante la pandemia de COVID-19, se encontró una inusual frecuencia de sarcoma intracraneal primario en niños en dos instituciones privadas de Lima.

SUMMARY Objective: The article describes the clinical and neuroimaging characteristics of six children with the diagnosis of brain tumor attended in two private institutions from Lima, during the COVID-19 pandemic. Material and methods: Descriptive study of cases of brain tumor in patients aged 18 and younger, followed at two private institutions in in Lima, from March 2020 to December 2021. Results: Six consecutive cases of intracranial tumors were detected during a large part of the COVID-19 pandemic's first year (October 2020 to March 2021), all of them with diagnosis of primary intracranial sarcoma. Before the pandemic, the last primary intracranial sarcoma in children, operated in the mentioned institutions, occurred in June 2018 and was the only case that year. Conclusions: During the COVID-19 pandemic, an unusual frequency of primary intracranial sarcoma in children was found in two private institutions from Lima.

Comparative analysis between cytomorphology and flow cytometry methods in central nervous system infiltration assessment in oncohematological patients

ABSTRACT Introduction Oncohematological patients require the evaluation for possible infiltration of the central nervous system (CNS) by neoplastic cells at diagnosis and/or during the monitoring of the chemotherapeutic treatment. Morphological analysis using conventional microscopy is considered the method of choice to evaluate the cerebrospinal fluid (CSF) samples, despite technical limitations. Objective This study aimed to compare the performance of the cytomorphology and flow cytometric immunophenotyping (FC) in the detection of CNS infiltration. Method We evaluated 520 CSF samples collected from 287 oncohematological patients for whom the detection of neoplastic cells was simultaneously requested by cytomorphology and FC. Results Laboratory analyses revealed 435/520 (83.7%) conclusive results by the two methods evaluated, among which 385 (88.5%) were concordant. Discordance between the methods was observed in 50/435 (11.5%) samples, 45 (90%) being positive by FC. Furthermore, the FC defined the results in 69/72 (95.8%) inconclusive samples by cytomorphology. The positivity of FC was particularly higher among hypocellular samples. Among 431 samples with a cell count of < 5/μL, the FC identified neoplastic cells in 75 (17.4%), while the cytomorphology reported positive results in 26 (6%). Among the samples that presented adequate cell recovery for evaluation by both methods (506/520), the comparative analysis between FC and cytomorphology revealed a Kappa coefficient of 0.45 (CI: 0.37-0.52), interpreted as a moderate agreement. Conclusion The data showed that the CSF analysis by FC helps in the definition of CNS infiltration by neoplastic cells, particularly in the cases with dubious morphological analysis or in the evaluation of samples with low cellularity.

Sporadic Creutzfeldt-Jakob Disease With Slow Progression:Report of One Case / 中国医学科学院学报

Sporadic Creutzfeldt-Jakob disease(sCJD)is a prion-caused degenerative disease of the central nervous system,with the typical clinical manifestation of rapidly progressive dementia.The course of disease is less than 1 year in most patients and more than 2 years in only 2% to 3% patients.We reported a case of sCJD with expressive language disorder and slow progression in this paper.By summarizing the clinical manifestations and the electroencephalograhpy,MRI,and pathological features,we aimed to enrich the knowledge about the sCJD with slow progression.

Evaluation of the Short-Term Efficacy and Safety of Orelabrutinib Combined with High-Dose Methotrexate in the First-line Treatment of Elderly Patients with High Risk Primary Central Nervous System Lymphoma / 中国实验血液学杂志

OBJECTIVE@#To explore the short-term efficacy and adverse reactions of orelabrutinib combined with high-dose methotrexate (HD-MTX) in the first-line treatment of elderly high-risk primary central nervous system lymphoma (PCNSL), as well as the survival of patients.@*METHODS@#Twenty-five elderly patients with high-risk primary central nervous system diffuse large B-cell lymphoma admitted to Fujian Provincial Hospital from June 2016 to June 2022 were enrolled in this study, and complete clinical data from all patients were collected retrospectively, and the cut-off for follow-up was December 2022. 15 patients had received temmozolomide combined with HD-MTX regimen for at least four cycles, sequential lenalidomide maintenance therapy, while 10 patients had received orelabrutinib combined with HD-MTX regimen for at least four cycles, sequential orelabrutinib maintenance therapy. The short-term efficacy and adverse reactions of the two groups of patients after treatment were observed. Kaplan-Meier was used to analyze the progression-free survival (PFS) and time to progression (TTP).@*RESULTS@#The objective response rate (ORR) and 2-year median FPS of orelabrutinib combined with HD-MTX regimen group were similar to the temozolomide combined with HD-MTX regimen group (ORR: 100% vs 66.7%; 2-year median PFS: 16 months vs 15 months, P>0.05). The 2-year median TTP of the orelabrutinib+HD-MTX regimen group was better than that of the temozolomide+HD-MTX regimen group (not reached vs 12 months, P<0.05). There were no significant differences in adverse reactions such as gastrointestinal reactions, bone marrow suppression, liver and kidney damage, cardiotoxicity, pneumonia and bleeding between these two groups (P>0.05).@*CONCLUSION@#For elderly patients with high-risk PCNSL, orelabrutinib combined with HD-MTX has reliable short-term efficacy, good safety, and tolerable adverse reactions, which is worthy of clinical promotion.

Research progress in the evaluation of glymphatic system function by the DTI-ALPS method / 中南大学学报(医学版)

The glymphatic system can remove metabolic wastes from the brain, which plays a significant role in maintaining the homeostasis of the central nervous system. It is an important basis for advanced cognitive functions such as learning and memory. Studies have analyzed the function of glymphatic system by diffusion tensor imaging analysis along the perivascular space (DTI-ALPS) recently. Compared with other invasive examinations that require fluorescent tracer technique or the injection of contrast agents, DTI-ALPS can evaluate the hydromechanics of the glymphatic system via quantifying the diffusion rate of water molecules in different directions, which turns out to be a non-invasive in vivo neuroimaging method. The ALPS-index calculated by the DTI-ALPS method is significantly correlated with the cognitive function in diseases of central nervous system and other system and can reflect the dynamic changes of diseases. In general, ALPS-index is expected to become a novel neuroimaging biomarker for predicting prognosis and clinical effects.

Analysis of the genomic landscape of primary central nervous system lymphoma using whole-genome sequencing in Chinese patients / 医学前沿

Primary central nervous system lymphoma (PCNSL) is an uncommon non-Hodgkin's lymphoma with poor prognosis. This study aimed to depict the genetic landscape of Chinese PCNSLs. Whole-genome sequencing was performed on 68 newly diagnosed Chinese PCNSL samples, whose genomic characteristics and clinicopathologic features were also analyzed. Structural variations were identified in all patients with a mean of 349, which did not significantly influence prognosis. Copy loss occurred in all samples, while gains were detected in 77.9% of the samples. The high level of copy number variations was significantly associated with poor progression-free survival (PFS) and overall survival (OS). A total of 263 genes mutated in coding regions were identified, including 6 newly discovered genes (ROBO2, KMT2C, CXCR4, MYOM2, BCLAF1, and NRXN3) detected in ⩾ 10% of the cases. CD79B mutation was significantly associated with lower PFS, TMSB4X mutation and high expression of TMSB4X protein was associated with lower OS. A prognostic risk scoring system was also established for PCNSL, which included Karnofsky performance status and six mutated genes (BRD4, EBF1, BTG1, CCND3, STAG2, and TMSB4X). Collectively, this study comprehensively reveals the genomic landscape of newly diagnosed Chinese PCNSLs, thereby enriching the present understanding of the genetic mechanisms of PCNSL.

Ewing's sarcoma of central nervous system: a clinicopathological analysis of six cases / 中华病理学杂志

Objective: To investigate the clinicopathological characteristics, pathological diagnosis of Ewing's sarcoma of the central nervous system. Methods: Six cases of Ewing's sarcoma of the central nervous system diagnosed at the First Affiliated Hospital of Nanjing Medical University, Nanjing, China from 2015 to 2022 were collected. The clinical manifestations, histological morphology, immunophenotype and molecular genetics of these cases were analyzed. The related literature was reviewed. Results: There were four males and two females, with a male to female ratio of 2∶1. The onset age was 17-40 years, with a median age of 23 years. All 6 tumors were located in the spinal cord (2 cases of cervical vertebra, 1 case of thoracic vertebra, 2 cases of lumbar vertebra, and 1 case of sacral vertebra). The patients' clinical manifestations were mostly lumbago, weakness and numbness of lower limbs/limbs. In 1 case, the tumor recurred and metastasized to the suprasellar region and the third ventricle. Microscopically, the tumor showed diffuse infiltrative growth. In some cases, the tumor was closely related to the spinal meninges. The tumor cells were arranged in sheet, lobular, thin-rope, and nest-like patterns. Homer-Wright rosette was visible. The tumor cells were small to medium in size, and most of them had scant cytoplasm. A few cells had clear cytoplasm. Some areas were rhabdoid. The tumor cell nuclei showed focal mild pleomorphism. The chromatin was uniform and delicate while the nucleoli were not obvious. Mitosis was commonly seen. The tumor was separated by fibrous connective tissue and may be accompanied by mucinous degeneration. Immunohistochemistry showed that all tumors were positive for CD99, NKX2.2, Fli1, ERG. ATRX, H3K27me3, INI1 and BRG1 were all retained. Immunohistochemical stains for EMA, GFAP and Olig2 were negative. The Ki-67 proliferation index was 30%-70%. EWSR1 break-apart FISH test was positive. Conclusions: Ewing's sarcoma is rare in the central nervous system and needs to be distinguished from a variety of neoplasms with primitive undifferentiated small cell morphology. Immunohistochemistry and molecular genetics may be required for a proper diagnosis.

Reporte de dos casos de neuro-paracoccidiomicosis / Report of two cases of neuro-paracoccidiomycosis

La paracoccidiodomicosis es la micosis sistémica más frecuente en América Latina. La afectación del sistema nervioso central (SNC) está descrita en un 10-27%. El objetivo es presentar dos pacientes del sexo masculino con neuroparacoccidiodomicosis internados en el Departamento de Medicina Interna del Hospital Nacional, uno en el año 2017 y el otro en el 2021. Ambos pacientes presentaron síntomas neurológicos con mejoría de las lesiones con anfotericina B. Los granulomas cerebrales de PCM pueden tener comportamiento pseudotumoral. La regresión de las lesiones fue completa con anfotericina B y trimetoprin sulfametoxasol en el primer caso y anfotericina B e itraconazol en el segundo caso.

Paracoccidioidomycosis is the most common systemic mycosis in Latin America. Central nervous system (CNS) involvement is described in 10-27%. The objective is to present two male patients with neuroparacoccidioidomycosis admitted to the Department of Internal Medicine of the National Hospital, one in 2017 and the other in 2021. Both patients presented neurological symptoms with improvement of the lesions with amphotericin B. The granulomas brain cells of PCM may have pseudotumor behavior. Regression of the lesions was complete with amphotericin B and trimethoprim sulfamethoxazole in the first case and amphotericin B and itraconazole in the second case.