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La Enfermedad de Von Willebrand adquirida (EVW adquirida) es un trastorno hemorrágico adquirido poco frecuente, con características clínicas y de laboratorio similares a la Enfermedad de Von Willebrand congénita. Asociándose con enfermedades hemato-oncológicas, autoinmunes, cardiovasculares y tumores sólidos. Las gammapatías monoclonales constituyen un grupo heterogéneo de trastornos caracterizados por la proliferación de linfocitos B en los últimos estadios madurativos o células plasmáticas que preservan la capacidad de producir una inmunoglobulina (Ig) monoclonal o alguno de sus componentes. Como consecuencia, se produce la aparición de una paraproteína o componente M (CM) en suero y/o orina que estará formado por la misma cadena pesada o ligera, y por regiones variables idénticas. Se presenta el caso de una mujer de 57 años, que se presenta con un síndrome hemorragíparo, alteración de la crasis en su vía intrínseca, donde se diagnostica EVW adq secundaria a Mieloma Múltiple (MM) con CM IgM 5,9 g/dl. El tratamiento tuvo como objetivos detener el sangrado, prevenir complicaciones y abordar precozmente la patología hemato-oncológica causante. Para su abordaje requirió la realización de recambios plasmáticos terapéuticos (RPT) que tuvieron un rol de acción terapéutica temprana y eficaz con excelente tolerancia. Ante el diagnóstico se inició rápidamente poliquimioterapia siendo ésta una paciente candidata a trasplante de progenitores hematopoyéticos. El objetivo de la presentación de este caso clínico es destacar la importancia de un correcto y oportuno diagnóstico ante la sospecha clínica de una coagulopatía secundaria a una enfermedad hemato-oncológica subyacente. Por lo que hacemos énfasis en el abordaje multidisciplinario.
Acquired von Willebrand disease (AVWS) is a rare acquired bleeding disorder with clinical and laboratory features similar to congenital von Willebrand disease. Associated with hemato-oncological, autoimmune, cardiovascular diseases and solid tumors. Monoclonal gammopathies constitute a heterogeneous group of disorders characterized by the proliferation of B lymphocytes in the last stages of maturation or plasma cells that preserve the capacity to produce a monoclonal immunoglobulin (Ig) or one of its components. As a consequence, the appearance of a paraprotein or M component (CM) occurs in serum and/or urine, which will be formed by the same heavy or light chain, and by identical variable regions. We present the case of a 57-year-old woman, who presented with a hemorrhagic parous syndrome, alteration of the crasis in its intrinsic way, where Acquired Von Willebrand Disease secondary to Multiple Myeloma is diagnosed. Treatment was aimed at stopping the bleeding, preventing complications, and promptly addressing the underlying hemato-oncological pathology. For its approach, it required the performance of therapeutic plasma exchanges that had a role of early and effective therapeutic action with excellent tolerance. Given the diagnosis, polychemotherapy was quickly started, this patient being a candidate for hematopoietic stem cell transplantation. The objective of presenting this clinical case is to highlight the importance of a correct and timely diagnosis in the face of clinical suspicion of a coagulopathy secondary to an underlying hemato-oncological disease. Therefore, we emphasize the multidisciplinary approach.
A doença de von Willebrand adquirida (EVW acq, AVWS) é um distúrbio hemorrágico adquirido raro com características clínicas e laboratoriais semelhantes à doença de von Willebrand congênita. Associado a doenças hemato-oncológicas, autoimunes, cardiovasculares e tumores sólidos. As gamopatias monoclonais constituem um grupo heterogêneo de distúrbios caracterizados pela proliferação de linfócitos B nos últimos estágios de maturação ou plasmócitos que preservam a capacidade de produzir uma imunoglobulina monoclonal (Ig) ou um de seus componentes. Como consequência, ocorre o aparecimento de uma paraproteína ou componente M (CM) no soro e/ou na urina, que serão formados pela mesma cadeia pesada ou leve, e por regiões variáveis idênticas. Apresentamos o caso de uma mulher de 57 anos, que apresentava um síndroma hemorrágico, alteração da crase na sua via intrínseca, onde é diagnosticada Doença de Von Willebrand Adquirida secundária a Mieloma Múltiplo. O tratamento visava estancar o sangramento, prevenir complicações e abordar prontamente a patologia hemato-oncológica subjacente. Para sua abordagem, exigiu a realização de plasmaférese terapêutica que teve papel de ação terapêutica precoce e efetiva com excelente tolerância. Diante do diagnóstico, rapidamente foi iniciada poliquimioterapia, sendo este paciente candidato a transplante de células-tronco hematopoiéticas. O objetivo da apresentação deste caso clínico é realçar a importância de um diagnóstico correto e atempado face à suspeita clínica de uma coagulopatia secundária a uma doença hemato-oncológica subjacente. Portanto, enfatizamos a abordagem multidisciplinar.
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INTRODUCTION: Diet in people with multiple sclerosis (pcMS) is of interest due to its potential benefit. The objective is to evaluate the changes in eating habits in pcEM, their opinion, sources of information, perception of effect and quality of current diet. METHODS: Cross-sectional observational study based on an online survey. The pcEM were convened by a patient association (ALCEM). Demographic, disease, and dietary change data were collected. Diet quality was assessed with the modified Cardiovascular Diet Questionnaire-2 (CDQ-2). RESULTS: Two hundred and eight pcEM, 82% women, age: 41.5 (± 10.9), 47% reported changes in diet, of these 52% maintained an omnivorous diet (vs. 85% p>0.01), 14% gluten-free, 9% ketogenic/low carbohydrate, 5% lacto-ovo vegetarian, 4% pescetarian. The percentage of overweight was lower, and the quality of the diet was better (more fruits and vegetables, less saturated fat, more unsaturated fat) among those who modified their diet compared to those who did not (CDQ-2: 10.2(7.6) vs. 3.9(6.5) p<0.01), including in those who remained omnivores (CDQ-2: 8.1(6.7) vs. 4.1(6.1) p<0. 01). The 83% maintained the change, with 92% perceiving positive results. Main source of information: Doctor or nutritionist: 39%. There was discordance between the information received from the treating neurologists and their own opinion and expectations. DISCUSSION: The pcEM made changes in their eating habits, resulting in healthy eating, although only 40% had their doctor or nutritionist as an informant. More studies on the topic and a multidisciplinary approach are necessary.
Introducción: La alimentación en personas con esclerosis múltiple (pcEM) reviste interés por su potencial beneficio. El objetivo es evaluar los cambios en hábitos alimentarios en pcEM, su opinión, fuentes de información, percepción de efecto y calidad de alimentación actual. Métodos: Estudio observacional transversal basado en una encuesta online. Las pcEM fueron convocadas por una asociación de pacientes (ALCEM). Se recolectaron datos demográficos, de la enfermedad y del cambio en la dieta. La calidad de la alimentación se evaluó con el Cuestionario de Dieta Cardiovascular-2 modificado (CDQ-2). Resultados: Doscientos ocho pcEM, 82% mujeres, edad: 41.5 (± 10.9), 47% refirieron cambios en la alimentación, de éstos el 52% mantiene dieta omnívora (vs. 85% p>0.01), 14% libre de gluten, 9% cetogénica/ baja en hidratos de carbono, 5% ovolactovegetariana, 4% pescetariana. El porcentaje de sobrepeso fue menor y la calidad de dieta fue mejor (más frutas y verduras, menos grasas saturadas, más grasas insaturadas) entre los que modificaron su dieta comparados con los que no (CDQ-2: 10.2(7.6) vs. 3.9(6.5) p<0.01), inclusive en los que se mantuvieron omnívoros (CDQ-2: 8.1(6.7) vs. 4.1(6.1) p<0.01). 83% mantuvo el cambio, con percepción de resultados positivos en 92%. Fuente de información principal: Médico o nutricionista: 39%. Hubo discordancia entre la información que reciben de los neurólogos tratantes y la opinión propia y expectativas. Discusión: Las pcEM realizaron cambios en sus hábitos alimentarios, resultando en alimentación saludable, aunque solo un 40% tuvo como informante a su médico o nutricionista. Son necesarios más estudios sobre el tema y un abordaje multidisciplinario.
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Conducta Alimentaria , Esclerosis Múltiple , Humanos , Femenino , Estudios Transversales , Adulto , Masculino , Persona de Mediana Edad , Encuestas y CuestionariosRESUMEN
Hematologic malignancies (HMs), including leukemia, lymphoma, and multiple myeloma, involve the uncontrolled proliferation of abnormal blood cells, posing significant clinical challenges due to their heterogeneity and varied treatment responses. Despite recent advancements in therapies that have improved survival rates, particularly in chronic lymphocytic leukemia and acute lymphoblastic leukemia, treatments like chemotherapy and stem cell transplantation often disrupt gut microbiota, which can negatively impact treatment outcomes and increase infection risks. This review explores the complex, bidirectional interactions between gut microbiota and cancer treatments in patients with HMs. Gut microbiota can influence drug metabolism through mechanisms such as the production of enzymes like bacterial ß-glucuronidases, which can alter drug efficacy and toxicity. Moreover, microbial metabolites like short-chain fatty acids can modulate the host immune response, enhancing treatment effectiveness. However, therapy often reduces the diversity of beneficial bacteria, such as Bifidobacterium and Faecalibacterium, while increasing pathogenic bacteria like Enterococcus and Escherichia coli. These findings highlight the critical need to preserve microbiota diversity during treatment. Future research should focus on personalized microbiome-based therapies, including probiotics, prebiotics, and fecal microbiota transplantation, to improve outcomes and quality of life for patients with hematologic malignancies.
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Microbioma Gastrointestinal , Neoplasias Hematológicas , Humanos , Neoplasias Hematológicas/terapia , Neoplasias Hematológicas/microbiología , Probióticos/uso terapéutico , Resultado del Tratamiento , Antineoplásicos/uso terapéutico , Trasplante de Microbiota Fecal , AnimalesRESUMEN
Purpose: Multiple myeloma (MM) is a rare cancer that is typically managed with bisphosphonates to slow bone resorption and prevent skeletal complications. This study aimed to identify imaging patterns in MM patients receiving bisphosphonate therapy. Materials and Methods: This systematic review included studies investigating maxillomandibular bone alterations based on imaging examinations in MM patients treated with bisphosphonates. The selected studies were qualitatively assessed using the Critical Appraisal Tools from SUMARI. Results: Six studies, involving 669 MM patients, were included, with 447 receiving bisphosphonate treatment. The majority were treated with pamidronate, zoledronate, or a combination of both. Seventy patients developed medication-related osteonecrosis of the jaw (MRONJ), predominantly in the mandible, characterized by the presence of bony sequestrum, bone sclerosis, increased periodontal ligament space, osteolytic lesions, and osteomyelitis as observed in imaging analyses. For non-MRONJ lesions, the mandible also exhibited the highest frequency of asymptomatic bone alterations. These ranged from "punched-out" osteolytic lesions or "soap bubble" lesions to solitary bone lesions, areas of bone sclerosis, abnormalities of the hard palate, osteoporosis, non-healed alveoli, and cortical bone rupture. Conclusion: MM patients treated with bisphosphonates display radiographic patterns of maxillomandibular bone lesions. These patterns aid in diagnosis and facilitate early and targeted treatment, thereby contributing to improved morbidity outcomes for these patients.
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Colombia is among the countries with the most robust financial protection against personal health spending in the world, with out-of-pocket spending ranking lowest across OECD countries. We investigate the evolution, distribution, and persistence of health spending by age group, sex, health care setting, health condition and geographic region for over 19 million users of Colombia's health system between 2013 and 2021 (contributory scheme). We use average patient-level expenditure data from the Health-Promoting Entities of the Ministry of Health and Social Protection. We applied multivariate statistical techniques such as multiple correspondence analysis, factor maps and correlations. For both sexes, average health expenditure increases gradually with age until 60 years, accelerating thereafter abruptly. Health conditions with the highest percentage of expenditure were those related to neoplasms, blood diseases, circulatory system, pregnancy, puerperium and perinatal period. We found that home-based care in Amazonía-Orinoquía is almost non-existent, and that outpatient care represents a high proportion in all age groups (over 65%) compared to the other regions. There is a strong persistence of expenditure from one year to the next (i.e. they can provide relevant information for prediction), especially in areas with a larger supply of health services such as Bogotá-Cundinamarca. To the authors' knowledge, this is the most comprehensive and detailed micro-analysis of health spending that has been developed for a Latin American country to date.
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Gastos en Salud , Colombia , Humanos , Gastos en Salud/estadística & datos numéricos , Femenino , Masculino , Persona de Mediana Edad , Adulto , Anciano , Adolescente , Preescolar , Adulto Joven , Lactante , Niño , Recién NacidoRESUMEN
BACKGROUND: Pilomatricoma is a common benign adnexal neoplasm in children. There are few epidemiological studies on this subject, with most relying solely on descriptive statistics. METHODS: A cross-sectional study conducted in two tertiary hospitals in Mexico City from January 2017 to December 2023. Clinical and electronic records of patients with histopathological diagnosis of pilomatricoma, both sexes, under 18 years old, with any type of present comorbidity were selected. Records of patients with diagnosis not confirmed by histopathology or incomplete records were not included in the study. RESULTS: Fifty-two cases with pilomatrixoma were included in the study, showing a total of 74 lesions. About 23.1% of the cases had multiple pilomatrixomas. 40.4% of the cases experienced pain; this symptom was associated with lesions > 15 mm in diameter and with multiple pilomatrixomas. Risk factors for lesions > 15 mm included age under 8 years, positive tent sign, tumor evolution longer than a year, and a non-classical clinical variety. The head and neck were the most commonly affected areas. The left upper extremity presented larger pilomatrixomas (median 18.5 mm) and occurred more frequently in adolescent patients (mean age 12.1 years) compared to other body areas. CONCLUSIONS: Pilomatrixoma in children shows clinical diversity, with specific findings based on size, number, and anatomical location.
INTRODUCCIÓN: El pilomatricoma es una neoplasia anexial benigna frecuente en la infancia. Hay muy pocos estudios epidemiológicos al respecto y la mayoría solo han utilizado estadística descriptiva. MÉTODOS: Estudio transversal realizado en dos hospitales de concentración de la Ciudad de México de enero de 2017 a diciembre de 2023. Se seleccionaron expedientes clínicos y electrónicos de pacientes con diagnóstico histopatológico de pilomatricoma, ambos sexos, menores de 18 años, con cualquier tipo de comorbilidad presente. No se incluyeron los expedientes de pacientes con diagnóstico no confirmado por histopatología o expediente incompleto. RESULTADOS: Se incluyeron 52 casos con diagnóstico de pilomatricoma que mostraron un total de 74 lesiones. El 23.1% de los pacientes tuvieron pilomatricomas múltiples. El 40.4% experimentaron dolor; este signo se asoció con lesiones de diámetro superior a 15 mm y pilomatricomas múltiples. La edad menor de 8 años, el signo de la tienda de campaña positivo, un tiempo de evolución mayor de 1 año y una variedad clínica no clásica son factores de riesgo asociados con las lesiones mayores de 15 mm. La cabeza y el cuello fueron las áreas más comúnmente afectadas por estos tumores. La extremidad superior izquierda presento pilomatricomas de mayor tamaño (mediana 18.5 mm), y ocurrieron más en pacientes adolescentes (media 12.1 años), en comparación con otras áreas del cuerpo. CONCLUSIONES: El pilomatricoma en niños muestra diversidad clínica. Presenta hallazgos y asociaciones específicas según el tamaño, el número y la ubicación anatómica.
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Enfermedades del Cabello , Pilomatrixoma , Neoplasias Cutáneas , Humanos , Pilomatrixoma/patología , Pilomatrixoma/epidemiología , Pilomatrixoma/diagnóstico , México/epidemiología , Masculino , Niño , Femenino , Estudios Transversales , Adolescente , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/epidemiología , Preescolar , Enfermedades del Cabello/epidemiología , Enfermedades del Cabello/patología , Factores de Riesgo , Lactante , Dolor/epidemiología , Dolor/etiologíaRESUMEN
Progressive multiple sclerosis (PMS) represents the worsening phase of the disease by accumulative neurodegeneration and disability, mainly refractory to current treatments. The therapeutic options remain challenging based partially on the lack of understanding of the pathogenic mechanisms but also because the early dogma was centered on neuroinflammation, overshadowing the critical role of the tissue repair process. The tissue repair target should necessarily start early in disease development and PMS should combine anti-inflammatory and neuroprotective therapeutic strategies. Increasing preclinical evidence, together with the new era of omics applied on frozen human brain tissue, shed light on some ligand receptors axis, such as GAS6/TYRO3 and PROS1/AXL required to dampen inflammation, promote tissue repair and engage remyelination, at the early stages of multiple sclerosis (MS) as a critical step in preventing or stopping neurodegeneration. Here, we will discuss those receptor/ligand pairs that could be targetable for therapeutic intervention in progressive MS disease. Significance Statement The aim for PMS should be to combine anti-inflammatory and neuroprotective therapeutic strategies based on early intervention. The TYRO3, AXL, and MERTK (TAM) signaling axis, particularly GAS6/TYRO3 and PROS1/AXL, which are involved in tempering inflammation, promoting tissue repair, and engaging remyelination, could significantly benefit patients at the early PMS.
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Kidney disease is a common complication of multiple myeloma (MM) and a risk factor for increased morbimortality. In this retrospective cohort study based on medical records, we analyzed the kidney function of patients with renal disease related to MM during the first year of treatment. All patients included were consecutively admitted to the outpatient services of two hospitals between January 2009 and January 2019 and met the diagnostic criteria for MM regardless of the reason for seeking medical help. We excluded patients who had kidney disease or who were on dialysis before MM diagnosis. We investigated the factors associated with renal function recovery using multivariate analysis. We evaluated 167 patients (median age of 66 ± 11.49 years). Almost half of the patients had arterial hypertension (76; 45.5%). The majority had International Staging System (ISS) grades 3 (73; 43.7%) or 2 (60; 35.9%). Seventy-four (44%) patients had an estimated glomerular filtration rate (eGFR) < 60 ml/min/1.73 m² at the time of MM diagnosis. Fifty-two patients (31%) underwent hematopoietic stem cell transplantation (HSCT). After 12 months, 4 (2.3%) patients needed dialysis, and 18 (10.7%) died. The factors associated with an eGFR < 60 ml/min/1.73 m² were anemia, hyperuricemia, 24-hour proteinuria > 1.0 g, and extramedullary plasmacytoma. However, only baseline renal function (eGFR > 60 ml/min/1.73 m2) and HSCT were associated with greater recovery of renal function at 12 months of follow-up.
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Tasa de Filtración Glomerular , Mieloma Múltiple , Humanos , Mieloma Múltiple/complicaciones , Mieloma Múltiple/diagnóstico , Masculino , Femenino , Anciano , Estudios Retrospectivos , Persona de Mediana Edad , Recuperación de la Función , Insuficiencia Renal/etiología , Insuficiencia Renal/epidemiología , Insuficiencia Renal/fisiopatología , Diálisis Renal , Trasplante de Células Madre Hematopoyéticas , Riñón/fisiopatología , Factores de RiesgoRESUMEN
Background: Multiple myeloma (MM) relapse in the central nervous system (CNS) confers an adverse prognosis, usually occurring in a short period after stem cell transplant and with a short overall survival. Isolated CNS relapse is so rare that there is no current standard treatment. Case Description: We present a 59-year-old male with an isolated CNS MM relapse, who had received autologous stem-cell transplant (ASCT) and thalidomide maintenance 11 years prior. He returned to our clinic with cauda equina syndrome and a nuclear magnetic resonance (NMR) identified a spinal lesion, a lumbar puncture was performed and plasma cells were identified in his cerebrospinal fluid (CSF). He was initially treated with intrathecal (IT) chemotherapy with methotrexate and steroid + radiotherapy and plasma cells disappeared after a few bi-weekly doses. Later on, treatment with pomalidomide/dexamethasone was given for 12 cycles with good clinical response with 80% recovery of his motor function. Conclusions: In this rare case of a very late CNS MM relapse, we demonstrate that IT chemotherapy complemented with a systemic pomalidomide-based treatment is safe and effective. This is particularly important in contexts where newer therapies such as bispecifics, chimeric antigen receptor-T (CAR-T) cells or even daratumumab or selinexor are not widely available. Further clinical experience in this particular scenario will be required to confirm this observation and define overall the best strategy for this rare group of patients.
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Background: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant syndrome characterized by medullary carcinoma of the early thyroid, pheochromocytoma, and non-endocrine manifestations, such as marfanoid habits and other skeletal abnormalities as well as mucosal neuromas and ganglioneuromatosis of the gastrointestinal tract. Case Description: A 10-year-old male began follow-up at our service at 3 years of age through pediatric gastroenterology due to intestinal constipation. The mother also reported that the child had painless lesions on the tip of the tongue since birth with progressive worsening. The patient simultaneously began follow-up with pediatric endocrinology due to low gains in weight and height, between which only isolated low weight was found, and the onset of follow-up with the pediatric neurology team due to longstanding headache combined with vomiting, photophobia, and phonophobia as well as a specific reading and writing disorder. The patient was sent to clinical genetics. The child's karyotype was 46, XY (normal). Through a physical examination, the pediatric neurology team identified joint hypermobility, important muscle hypotrophy, gingival hypertrophy, and lipodystrophy. The patient was sent to neurogenetics, initiating a set of general laboratory exams for the investigation of the lipodystrophy and a panel of exams for lipodystrophy, neuropathy, and muscle hypotrophy as well as electroneuromyography. MEN2B due to genetic mutation was confirmed and the patient was sent to the pediatric endocrinology clinic for follow-up. Currently 10 years of age and again with the pediatric endocrinology team for the diagnosis of MEN2B, the investigation of pheochromocytoma and medullary thyroid cancer was initiated. Conclusions: An additional mutation occurs in most cases of MEN2B. The diagnosis is only established when the child or, in most cases, adolescent presents with medullary thyroid cancer in an advanced and even metastatic stage. However, non-endocrine manifestations, can lead to an early diagnosis and timely intervention. The diagnosis of MEN2B is made with the confirmation of the autosomal dominant genetic mutation or a mutation of the RET gene. In the absence of these mutations, the majority of clinical manifestations should be present.
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BACKGROUND: Leukocyte telomere length (LTL) shortens with age and may be related to multiple sclerosis (MS). OBJECTIVE: We hypothesize that chronologically young people with MS (pwMS) with short LTL behave similarly to older MS subjects. METHODS: Prospective 2-year study including two cohorts of young (18-35 years) and elderly (⩾50 years) pwMS with similar disease duration. Physical and cognitive evaluation, 3 T brain magnetic resonance imaging (MRI) and retinal nerve fiber layer (RNFL) measurement by optical coherence tomography were performed. LTL was measured by quantitative polymerase chain reaction assay. RESULTS: Around 105 patients were included, 57 young and 48 elderly. LTL was shorter in older patients (0.61 versus 0.57, p = 0.0081) and in males (female, 0.60; male, 0.59; p = 0.01335). For every 10-year increase in age, LTL was 0.02 U shorter. In elderly, LTL correlated with disease duration (p = 0.05), smoking (p = 0.03), Expanded Disability Status Scale (EDSS; p = 0.004), 9HPT (p = 0.00007), high-efficacy therapies (p = 0.001), brain lesion volume (BLV) (p = 0.011), and number of T2 lesions (p = 0.01). In young patients, LTL did not correlate with clinical or radiological variables. For every 0.1 U shorter LTL, gray matter volume decreased 1.75 cm3 and white matter volume 1.78 cm3. CONCLUSION: LTL correlated with disability and BLV in elderly. Besides LTL shortening, other variables should be considered as mechanisms of neurodegeneration that might be involved in aging pwMS.
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Esclerosis Múltiple , Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Adulto Joven , Adolescente , Anciano , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/patología , Esclerosis Múltiple/genética , Estudios Prospectivos , Biomarcadores , Imagen por Resonancia Magnética , Telómero , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Leucocitos/patología , Tomografía de Coherencia Óptica , Acortamiento del Telómero , Envejecimiento/patologíaRESUMEN
Background: Multiple sclerosis (MS) is an inflammatory chronic autoimmune and neurodegenerative disorder of the brain and spinal cord, resulting in loss of motor, sensorial, and cognitive function. Among the non-pharmacological interventions for several brain conditions, photobiomodulation (PBM) has gained attention in medical society for its neuroprotective effects. We systematically reviewed the effects of PBM on MS. Methods: We conducted a systematic search on the bibliographic databases (PubMed and ScienceDirect) with the keywords based on MeSH terms: PBM, low-level laser therapy, multiple sclerosis, autoimmune encephalomyelitis, demyelination, and progressive multiple sclerosis. Data search was limited from 2012 to July 2024. We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The initial systematic search identified 126 articles. Of these, 68 articles were removed by duplicity and 50 by screening. Thus, 8 studies satisfied the inclusion criteria. Results: The reviewed studies showed that PBM modulates brain markers linked to inflammation, oxidative stress, and apoptosis. Improvements in motor, sensorial, and cognitive functions in MS patients were also observed after PBM therapy. No study reported adverse effects of PBM. Conclusion: These findings suggest the potential of PBM as a promising non-pharmacological intervention for the management of MS, although further research is needed to standardize PBM protocols and assess its long-term effects.
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INTRODUCTION: Cladribine was approved for Multiple Sclerosis (MS) in our country in 2018. A previous study by our group showed that its use among high efficacy therapies options has been increasing along the years. OBJECTIVE: to analyze the cladribine use trend across time since its approval. METHOD: A retrospective cohort study was performed. People with MS (pwMS) treated with cladribine were included. Two periods were defined: P1 = 2018 - 2020 and P2 = 2021 - 2023. A comparative analysis was carry out between P1 and P2 to assess the trend of use, clinical/demographic characteristics, and effectiveness. RESULTS: One hundred ninety- seven people with MS (pwMS) were included, mean EDSS: 2.2 ± 3.08, 72.6% female, mean age: 35.2 ± 9 years, mean disease duration: 6.6 ± 5.6 years, mean time lapse under cladribine: 26.1 ± 12.4 months. Regarding patient profile, we found significant differences between P1 and P2 in the MS evolution (p = 0.001) and EDSS ( p = 0.018) prior to initiation of cladribine. In the individualized analysis by year, we found a decrease in relapse number in the year prior to starting cladribine (p = 0.02). A higher proportion of No Evidence of Disease Activity (NEDA) was found in patients treated at P2 compared to those treated at P1 (p < 0.001). CONCLUSION: An earlier use of cladribine achieved a significant increase in reaching NEDA. This learning curve in the use of cladribine allows a better identification of the candidate patient and influences the treatment effectiveness.
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Introduction: There are no reports in LATAM related to longitudinal humoral and cellular response to adenovirus based COVID-19 vaccines in people with Multiple Sclerosis (pwMS) under different disease modifying therapies (DMTs) and neutralization of the Omicron and Wuhan variants of SARS-COV-2. Methods: IgG anti- SARS-COV-2 spike titer were measured in a cohort of 101 pwMS under fingolimod, dimethyl fumarate, cladribine and antiCD20, as well as 28 healthy controls (HC) were measured 6 weeks after vaccination with 2nd dose (Sputnik V or AZD1222) and 3nd dose (homologous or heterologous schedule). Neutralizing capacity was against Omicron (BA.1) and Wuhan (D614G) variants and pseudotyped particles and Cellular response were analyzed. Results: Multivariate regression analysis showed anti-cd20 (ß= -,349, 95% CI: -3655.6 - -369.01, p=0.017) and fingolimod (ß=-,399, 95% CI: -3363.8 - -250.9, p=0.023) treatments as an independent factor associated with low antibody response (r2 adjusted=0.157). After the 2nd dose we found a correlation between total and neutralizing titers against D614G (rho=0.6; p<0.001; slope 0.8, 95%CI:0.4-1.3), with no differences between DMTs. Neutralization capacity was lower for BA.1 (slope 0.3, 95%CI:0.1-0.4). After the 3rd dose, neutralization of BA.1 improved (slope: 0.9 95%CI:0.6-1.2), without differences between DMTs. A fraction of pwMS generated anti-Spike CD4+ and CD8+ T cell response. In contrast, pwMS under antiCD20 generated CD8+TNF+IL2+ response without differences with HC, even in the absence of humoral response. The 3rd dose significantly increased the neutralization against the Omicron, as observed in the immunocompetent population. Discussion: Findings regarding humoral and cellular response are consistent with previous reports.
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Anticuerpos Neutralizantes , Anticuerpos Antivirales , Vacunas contra la COVID-19 , COVID-19 , Inmunosupresores , Esclerosis Múltiple , SARS-CoV-2 , Humanos , Masculino , Femenino , Inmunosupresores/uso terapéutico , Vacunas contra la COVID-19/inmunología , Vacunas contra la COVID-19/administración & dosificación , SARS-CoV-2/inmunología , Persona de Mediana Edad , Esclerosis Múltiple/inmunología , Esclerosis Múltiple/tratamiento farmacológico , COVID-19/inmunología , COVID-19/prevención & control , Adulto , Anticuerpos Antivirales/sangre , Anticuerpos Antivirales/inmunología , Anticuerpos Neutralizantes/inmunología , Anticuerpos Neutralizantes/sangre , Argentina , Adenoviridae/genética , Adenoviridae/inmunología , Inmunidad Humoral , Glicoproteína de la Espiga del Coronavirus/inmunologíaRESUMEN
The Onco Summit 2023: The Latin American (LATAM) Chapter took place over two days, from 19-20 May 2023, in Brazil. The event aimed to share the latest updates across various oncology disciplines, address critical clinical challenges, and exchange best practices to ensure optimal patient treatment. More than 30 international and regional speakers and more than 300 oncology specialists participated in the Summit. The Summit discussions centered on common challenges and therapeutic advances in cancer care, with a specific focus on the unique obstacles faced in LATAM and examples of adaptable strategies to address these challenges. The Summit also facilitated the establishment of a network of oncologists, hematologists, and scientists in LATAM, enabling collaboration to improve cancer care, both in this region and globally, through drug development and clinical research. This report summarizes the key discussions from the Summit for the global and LATAM oncology community.
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In this review, we approach the main morphologic and developmental aspects of the congenital cardiovascular malformation known as tetralogy of Fallot with pulmonary atresia. It is recognized that pulmonary atresia associated with a deficient ventricular septation can occur in several situations. However, the tetralogy presentation in particular, with frequent but not invariable concomitance of systemic-to-pulmonary collateral arteries supplying the lungs entirely or in part, poses surgical challenges. The variations in the morphology of such collateral arteries and the intracardiac anatomy are discussed.
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Multiple sex chromosomes usually arise from chromosomal rearrangements which involve ancestral sex chromosomes. There is a fundamental condition to be met for their long-term fixation: the meiosis must function, leading to the stability of the emerged system, mainly concerning the segregation of the sex multivalent. Here, we sought to analyze the degree of differentiation and meiotic pairing properties in the selected fish multiple sex chromosome system present in the wolf-fish Hoplias malabaricus (HMA). This species complex encompasses seven known karyotype forms (karyomorphs) where the karyomorph C (HMA-C) exhibits a nascent XY sex chromosomes from which the multiple X1X2Y system evolved in karyomorph HMA-D via a Y-autosome fusion. We combined genomic and cytogenetic approaches to analyze the satellite DNA (satDNA) content in the genome of HMA-D karyomorph and to investigate its potential contribution to X1X2Y sex chromosome differentiation. We revealed 56 satDNA monomers of which the majority was AT-rich and with repeat units longer than 100 bp. Seven out of 18 satDNA families chosen for chromosomal mapping by fluorescence in situ hybridization (FISH) formed detectable accumulation in at least one of the three sex chromosomes (X1, X2 and neo-Y). Nine satDNA monomers showed only two hybridization signals limited to HMA-D autosomes, and the two remaining ones provided no visible FISH signals. Out of seven satDNAs located on the HMA-D sex chromosomes, five mapped also to XY chromosomes of HMA-C. We showed that after the autosome-Y fusion event, the neo-Y chromosome has not substantially accumulated or eliminated satDNA sequences except for minor changes in the centromere-proximal region. Finally, based on the obtained FISHpatterns, we speculate on the possible contribution of satDNA to sex trivalent pairing and segregation.
Asunto(s)
Characiformes , ADN Satélite , Hibridación Fluorescente in Situ , Cromosomas Sexuales , Animales , ADN Satélite/genética , Cromosomas Sexuales/genética , Masculino , Characiformes/genética , Femenino , Evolución Molecular , Meiosis/genética , Cariotipo , Cromosoma Y/genéticaRESUMEN
Araucaria angustifolia is a species known for its valuable wood and nuts, but it is threatened with extinction. The plantation of forests for genetic resource conservation is a complementary strategy designed to reduce the species' genetic variability loss. This study aimed to evaluate the technical and economic viability of A. angustifolia for genetic conservation through use. The analyzed provenance and progeny trial was established in 1982 in Itapeva, Brazil. It was structured using a compact family blocks design with 110 open-pollinated progenies from five natural populations, three replicates, ten plants per subplot, and 3.0 m × 2.0 m spacing. After 33 years, the trial was evaluated for total height, diameter at breast height, wood volume, and survival. The variance components and genetic parameter estimates were performed using Restricted Maximum Likelihood/Best Linear Unbiased Prediction methods (REML/BLUP) methods with the Selegen software (version 2014). The production and management scenarios were obtained using the SisAraucaria software (version 2003). Sensitivity analysis and economic parameter estimates were obtained through various economic evaluation methods using the Planin software (version 1995). In general, the genetic parameters indicated that the population has enough variability for both conservation and breeding purposes, suggesting technical viability for the establishment of a seed orchard. The economic parameters indicated that the commercialization of wood and araucaria nuts proved to be more profitable than wood production by itself. In conclusion, araucaria genetic conservation through use is a technically and economically viable ex situ conservation strategy.
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Multiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system with unknown etiology, resulting in various impairments that necessitate continuous rehabilitation to enhance functionality, quality of life, and motor function, including through Virtual Reality (VR) therapy. Comparing tasks in virtual environments and their potential skill transfer to real-world settings could aid in optimizing treatment programs to improve motor performance in individuals with MS. This study aimed to determine whether practicing acquisition and retention phases using two distinct interfaces (concrete-Touch Screen or abstract-Kinect system) affects performance in a subsequent task using a different interface (transfer phase). A randomized clinical trial was conducted with 56 volunteers with MS and 41 controls. Participants engaged in a computer game where they burst as many bubbles as possible within 10 s per attempt. After the acquisition and retention phases, all participants switched interfaces (e.g., those using Kinect switched to Touchscreen and vice versa). Significant performance improvements were observed in both groups during the acquisition phase, which were maintained in the retention phase. Although the abstract interface was more challenging for both groups, only the MS group that practiced with the abstract interface successfully transferred their improvements to the concrete interface. Thus, despite the increased difficulty of the abstract task during practice, it led to better performance transfer when required to complete a subsequent concrete task, suggesting that abstract devices may be beneficial in clinical practice for improving motor function in people with MS.
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Peptides have emerged as promising therapeutic agents. However, their potential is hindered by hemotoxicity. Understanding the hemotoxicity of peptides is crucial for developing safe and effective peptide-based therapeutics. Here, we employed chemical space complex networks (CSNs) to unravel the hemotoxicity tapestry of peptides. CSNs are powerful tools for visualizing and analyzing the relationships between peptides based on their physicochemical properties and structural features. We constructed CSNs from the StarPepDB database, encompassing 2004 hemolytic peptides, and explored the impact of seven different (dis)similarity measures on network topology and cluster (communities) distribution. Our findings revealed that each CSN extracts orthogonal information, enhancing the motif discovery and enrichment process. We identified 12 consensus hemolytic motifs, whose amino acid composition unveiled a high abundance of lysine, leucine, and valine residues, while aspartic acid, methionine, histidine, asparagine and glutamine were depleted. Additionally, physicochemical properties were used to characterize clusters/communities of hemolytic peptides. To predict hemolytic activity directly from peptide sequences, we constructed multi-query similarity searching models (MQSSMs), which outperformed cutting-edge machine learning (ML)-based models, demonstrating robust hemotoxicity prediction capabilities. Overall, this novel in silico approach uses complex network science as its central strategy to develop robust model classifiers, to characterize the chemical space and to discover new motifs from hemolytic peptides. This will help to enhance the design/selection of peptides with potential therapeutic activity and low toxicity.