Clinical Presentations of Parvovirus B19: A Case Series.

BACKGROUND: Parvovirus B19 (PVB19) is a small, nonenveloped, single-stranded DNA virus commonly causing asymptomatic infections or mild, flu-like symptoms. In children, PVB19 can lead to various clinical conditions, including erythema infectiosum, arthropathy, transient aplastic crisis and papular-purpuric eruptions, among others. METHODS: We present 3 pediatric cases treated at Luigi Sacco University Hospital in Milan, Italy, in March 2024, each demonstrating distinct manifestations of PVB19 infection. Case 1 involved a 7-year-old girl with a maculopapular rash and panniculitis-like symptoms. Case 2 described an 8-year-old boy with a maculopapular rash, vasculitis component and mild thrombocytopenia. Case 3 focused on a 7-year-old girl with petechial and purpuric eruptions and a mild decrease in platelets. Serological tests confirmed PVB19 infection in all cases. RESULTS: The discussed cases highlight the heterogeneous clinical spectrum of PVB19 infection and emphasize its potential to cause thrombocytopenia even in healthy children. The recent surge in PVB19 cases in Europe, aligned with known epidemiological cycles, underscores the importance of vigilance in diagnosis, particularly during peak seasons. Additionally, concerning the role of serological testing in the diagnostic process, the potential for cross-reactivity among viral antigens is pointed out. CONCLUSION: PVB19 is a common infection with a broad range of clinical presentations. Awareness of its potential complications, including thrombocytopenia, even in nonimmunocompromised children, is crucial. Moreover, understanding the epidemiological patterns of PVB19 can aid in anticipating and managing outbreaks, thus minimizing its impact on pediatric health.

Ionically-crosslinked carboxymethyl chitosan scaffolds by additive manufacturing for antimicrobial wound dressing applications.

Chitosan chemical functionalization is a powerful tool to provide novel materials for additive manufacturing strategies. The main aim of this study was the employment of computer-aided wet spinning (CAWS) for the first time to design and fabricate carboxymethyl chitosan (CMCS) scaffolds. For this purpose, the synthesis of a chitosan derivative with a high degree of O-substitution (1.07) and water soluble in a large pH range allowed the fabrication of scaffolds with a 3D interconnected porous structure. In particular, the developed scaffolds were composed of CMCS fibers with a small diameter (< 60 µm) and a hollow structure due to a fast non solvent-induced coagulation. Zn2+ ionotropic crosslinking endowed the CMCS scaffolds with stability in aqueous solutions, pH-sensitive water uptake capability, and antimicrobial activity against Escherichia coli and Staphylococcus aureus. In addition, post-printing functionalization through collagen grafting resulted in a decreased stiffness (1.6 ± 0.3 kPa) and a higher elongation at break (101 ± 9 %) of CMCS scaffolds, as well as in their improved ability to support in vitro fibroblast viability and wound healing process. The obtained results encourage therefore further investigation of the developed scaffolds as antimicrobial wound dressing hydrogels for skin regeneration.

Striated duct adenoma: The cytological description of a rare entity.

INTRODUCTION: Striated duct adenoma is a benign salivary gland tumour recently recognized by the World Health Organization. To date, no report has described the cytological features of this entity. MATERIALS AND METHODS: We report the case of a 60-year-old woman with a tumour in the right parotid gland with a diameter greater than 2.4 cm confirmed by imaging tests. RESULTS: Two fine-needle aspiration cytologies (FNAC) were performed with inconclusive results, reporting epithelioid and spindle-shaped cellularity, with little stroma, and nuclei with abundant pseudoinclusions. Myoepithelioma and Schwannoma were proposed as differential diagnoses. An immunocytochemical panel was performed, showing positivity for S-100, SOX10, CK7 and vimentin, and negativity for both myoepithelial (p63 and calponin) and thyroid markers. In the absence of a conclusive diagnosis, the patient accepted surgery. The biopsy results confirmed diagnosis of striated duct adenoma, with immunohistochemical features superimposable to cytology. CONCLUSION: Little information is available in the literature, both on biopsy and, more strikingly, on cytology of this neoplasm. The aim of this work is to provide cytological characteristics that allow diagnosis of this entity with FNAC and thus avoid unnecessary surgeries.

Immunotherapy in Neuroendocrine Neoplasms: A Diamond to Cut.

A raise in the incidence of NENs is expected. Therefore, the identification of new therapeutic strategies, such as immunotherapy, remains crucial. To date, immune checkpoint inhibitors as monotherapy have shown modest activity in unselected NENs. Although immunotherapy combos (plus another immune agents or chemotherapy, among others) are potentially more active than single agents, this has not been uniformly confirmed, even in high-grade NENs. Other immunotherapeutic strategies under development include bispecific antibodies, targeting specific tumor antigens like DLL3, and cell therapy. Currently, no predictive immune biomarkers are available to guide clinical decisions. A comprehensive tumor molecular profiling approach needs to be developed for the selection of patients with NEN who could potentially benefit from immunotherapy. Ideally, clinical trials should incorporate this tumor molecular profiling to identify predictive biomarkers and improve efficacy. Achieving this goal requires an international collaborative effort.

Disentangling the value equation: a step forward in value-based healthcare.

BACKGROUND: The value equation of value-based healthcare (VBHC) as a single figure remains ambiguous, closer to a theoretical framework than a useful tool for decision making. The challenge lies in the way patient-centred outcomes (PCOs) might be combined to produce a single value of the numerator. This paper aims to estimate the weights of PCOs to provide a single figure in the numerator, which ultimately will allow a VBHC figure to be reached. METHODS: A cohort of patients diagnosed with breast cancer (n = 690) with a 6-month follow-up recruited in 2019-20 across six European hospitals was used. Patient-reported outcomes (PROs), clinical-related outcomes (CROs), and clinical and socio-demographic variables were collected. The numerator was defined as a composite indicator of the PCOs (CI-PCO), and regression analysis was applied to estimate their weights and consequently arrive at a single figure. RESULTS: Pain showed as the highest weight followed by physical functioning, emotional functioning, and ability to work, and then by a symptom, either arm or breast. PCOs weights were robust to sensitivity analysis. The CI-PCO value was found to be more informative than the health-related quality of life (HRQoL) value. CONCLUSIONS: To the best of our knowledge, this is the first research to combine the PCOs proposed by ICHOM to provide a single figure in the numerator of the value equation. This figure shows a step forward in VBHC to reach a holistic benchmarking across healthcare centres and a value-based payment. This research might also be applied in other medical conditions as a methodological pathway.

Dysphonia and other voice alterations associated with COVID-19: Systematic review.

Among the symptoms presented by patients with SARS-Cov-2 infection, we can find various otorhinolaryngological alterations. Dysphonia appears in up to 79% of infected patients during the acute phase. Dysphonia can also occur as a sequelae, often underestimated, possibly due to its appearance along with other symptoms, also in patients after prolonged intubation or tracheostomy. We present a systematic review of the literature with a bibliographic search in PubMed, Cochrane and Google Scholar, with MESH terms including studies in English and Spanish. The results of the studies found and the vocal manifestations in patients during COVID-19 disease and the consequences produced are analysed. Dysphonia is an acute manifestation of COVID-19 with alterations in aerodynamic and acoustic analysis and in fibrolaryngoscopy. Post-COVID dysphonia can be a persistent symptom that is often underestimated, requiring multidisciplinary management and speech therapy intervention. Laryngeal sequelae are common in post-intubation or post-tracheostomy patients and are related to intubation time, tube number, pronation and respiratory sequelae.

Association between Diet Quality and Risk of Type 2 Diabetes Mellitus in Patients with Coronary Heart Disease: Findings from the CORDIOPREV Study.

The incidence of type 2 diabetes mellitus (T2DM) is growing in Western countries. Nutritional interventions that promote high-quality dietary patterns could help reverse this trend. We aimed to evaluate whether changes in Nutrient-Rich Food Index 9.3 (NRF9.3) were related to the risk of developing T2DM in patients with coronary heart disease (CHD). The study was carried out in the context of two healthy dietary interventions (a Mediterranean and a low-fat diet). For this purpose, we evaluated all the patients in the CORDIOPREV study without T2DM at baseline. Data were obtained during the first 5 years of dietary intervention. The score was calculated using the Food Frequency Questionnaires at baseline and after 1 year of intervention. After 5 years of follow-up, 106 patients developed T2DM (incident-T2DM), while 316 subjects did not (non-T2DM). Total NRF9.3 score and changes during the first year of intervention were compared between incident-T2DM and non-T2DM. Incident-T2DM showed less improvement in NRF9.3 than non-T2DM (p = 0.010). In the multi-adjusted Cox proportional hazard study, patients with greater improvement in NRF9.3 had over 50% less risk of developing T2DM compared with the lowest tertile (HR 2.10, 95%, CI = 1.12-3.56). In conclusion, improved diet quality in terms of nutrient density after the dietary intervention was associated with a lower risk of T2DM in patients with CHD.

Enzymatic Debridement Compared To Surgical Debridement: A Cost Analysis in a Burn Unit in Spain.

The standard care for burns is tangential surgical debridement and subsequent covering, but recently enzymatic debridement has appeared as an alternative. The objective of this study, using an individualised cost-per-patient information system, is to compare the cost per patient of these two alternatives and identify their main determining factors. A non-randomised, retrospective, observational study was carried out with 79 patients, 39 of whom were treated with surgical debridement. The average cost per patient for enzymatic debridement is lower, particularly due to a shorter length of stay of critical hospitalisation (13.7 vs. 18.9 days; €26,101 vs. €33,919), a decreased need for surgical procedures (0.45 vs. 1.28) and a shorter use of operating theatres (53 vs. 202 minutes; €904 vs. €3,000). Age, aetiology, evolution length and percentage TBSA are robust determinants of the cost of care for burn patients. The type of procedure does not appear to significantly affect the cost per patient.

Le traitement de référence d'une brûlure profonde est l'excision chirurgicale suivie de greffe. L'excision enzymatique se pose en alternative à la chirurgie. Nous avons comparé le coût individuel de ces 2 options, en utilisant un moyen informatique approprié. Il s'agit d'une étude observationnelle rétrospective conduite sur les dossiers de 79 patients dont 39 traités chirurgicalement. La réduction de coût calculée pour le traitement enzymatique (de 33 919€ à 26 101€) tient de la réduction de la durée de séjour (de 18,9 à 13,7 jours), de la réduction du nombre d'actes chirurgicaux (de 1,28 à 0,45) et la réduction de la durée d'utilisation du bloc opératoire (de 202 à 53 mn) ce qui génère une diminution de coût de 3 000 à 904€. Cependant, l'âge, la cause, la surface brûlée et la durée de cicatrisation sont des paramètres robustes de variation des coûts, la stratégie chirurgicale ou enzymatique semblant n'agir qu'à la marge.

In Situ Use of Mining Substrates for Wetland Construction: Results of a Pilot Experiment.

This paper evaluates an experimental wetland as part of a pilot soil reclamation project in a mining area. The wetland was constructed using materials of mining origin from the area; most reactive materials of acid pH were stabilised using limestone filler. The study selected macrophytes that are tolerant to potentially toxic elements (PTEs) and resistant to salinity, namely Phragmites australis, Juncus effusus, and Iris pseudacorus. These macrophytes were then placed in pots containing substrates composed of different mixtures of topsoil, peat, and mining waste (black or yellow sand). A thorough analysis of the physicochemical and mineralogical characteristics of the materials included studies of PTE mobilisation. This study emphasises the significance of the rhizosphere in directing the transfer of PTEs to the plant and the correlation between the substrate and the development of plant defence mechanisms, such as the formation of Fe-plates. Scanning electron microscopy was used to highlight these aspects and validate the results of the analytical determinations. These wetlands can be proposed as a phytoremediation strategy for areas affected by mining and maritime influence. They are easy to construct and remain stable, providing important ecosystem services such as the natural attenuation of acid mine drainage, support for vegetation development and fauna, and a clean ecosystem.

Association of Dietary Patterns with Cardiovascular Disease Risk Factors in Mexican Adults: Insights from a Cross-Sectional Descriptive Study.

Dietary patterns (DPs) are an essential tool to analyze the relationship between diet and health as they have presented an association with the incidence of chronic non-communicable diseases. Therefore, the aim of this study was the identification and characterization of DPs and their association with cardiovascular risk factors. For this purpose, a cross-sectional descriptive study was carried out in 165 Mexican adults, including dietary intakes derived from a validated food frequency questionnaire, clinical history, anthropometry, and biochemical biomarkers using standardized procedures for glucose, total cholesterol, triglycerides, LDL-c, and HDL-c. DPs were identified through principal component analysis and ordinal logistic regression was used to examine associations between DPs and cardiovascular disease risk factors. Three DPs were identified: Mexican Fast-Food, Variety-Food, and Healthy-Economic, with a high prevalence of overweight and obesity (78%). Having a high adherence to a Mexican Fast-Food pattern (OR 1.71 CI 1.4-2.8), being sedentary (OR 4.85 2.32-10.15) and smoking (0R 6.4 CI 2.40-16.9) increased the risk of having a high scale of risk factors (four or more risk factors simultaneously). In conclusion, the Mexican Fast-Food pattern showed an increase in the risk of having multiple risk factors, while a sedentary lifestyle and overeating were largely responsible for the prevalence of overweight and obesity in this group of Mexican adults.

Genomic and Immunologic Correlates in Prostate Cancer with High Expression of KLK2.

The identification of surfaceome proteins is a main goal in cancer research to design antibody-based therapeutic strategies. T cell engagers based on KLK2, a kallikrein specifically expressed in prostate cancer (PRAD), are currently in early clinical development. Using genomic information from different sources, we evaluated the immune microenvironment and genomic profile of prostate tumors with high expression of KLK2. KLK2 was specifically expressed in PRAD but it was not significant associated with Gleason score. Additionally, KLK2 expression did not associate with the presence of any immune cell population and T cell activating markers. A mild correlation between the high expression of KLK2 and the deletion of TMPRSS2 was identified. KLK2 expression associated with high levels of surface proteins linked with a detrimental response to immune checkpoint inhibitors (ICIs) including CHRNA2, FAM174B, OR51E2, TSPAN1, PTPRN2, and the non-surface protein TRPM4. However, no association of these genes with an outcome in PRAD was observed. Finally, the expression of these genes in PRAD did not associate with an outcome in PRAD and any immune populations. We describe the immunologic microenvironment on PRAD tumors with a high expression of KLK2, including a gene signature linked with an inert immune microenvironment, that predicts the response to ICIs in other tumor types. Strategies targeting KLK2 with T cell engagers or antibody-drug conjugates will define whether T cell mobilization or antigen release and stimulation of immune cell death are sufficient effects to induce clinical activity.

Dietary antioxidant intake reduces carotid intima-media thickness in coronary heart disease patients: From the CORDIOPREV study.

BACKGROUND: Atherosclerosis is the leading underlying cause of coronary heart disease (CHD). In patients with CHD, intima-media thickness of common carotid arteries (IMT-CC) is a reliable, validated, and non-invasive marker of the progression of atherosclerosis. Dietary intervention may affect IMT-CC evolution through different pathways. There is a lack of clinical trials evaluating the effect of total dietary antioxidant content of diets on IMT-CC, especially in patients with CHD. OBJECTIVE: We evaluated the correlation between the diet's total antioxidant content and the changes in IMT-CC produced after 5 years of dietary intervention following two healthy diet models (Mediterranean diet and low-fat diet). We also evaluated whether the diet's total antioxidant content was related to the total redox capacity of the participants. METHODS: From the total participants of the CORDIOPREV study (clinical trial register NCT00924937), 805 participants completed the IMT-CC measurement and the dietary antioxidant evaluation at baseline and after 5 years of dietary intervention. IMT-CC was carried out by ultrasound and the dietary antioxidant evaluation was performed by the Dietary Antioxidant Index (DAI). Additionally, direct redox balance was evaluated in a subset of population by the ratio of reduced glutathione (GSH) to oxidized glutathione (GSSH) by colorimetric assay. RESULTS: We observed an inverse correlation between evolution of DAI and IMT-CC after 5-years of dietary intervention. The mean of the DAI index augmented in the Mediterranean Diet group, whereas it decreased in the Low-fat group. DAI was correlated to the GSH/GSSG ratio, supporting DAI as an adequate estimator of diet's antioxidant content. When looking for individual components of the DAI that were associated to the changes in IMT-CC, an inverse correlation was found for carotenoids, vitamin E, vitamin C, and zinc and the IMT-CC. CONCLUSIONS: Our study indicates that, after five years of dietary intervention, changes in DAI inversely correlate with changes in IMT-CC in patients with CHD. Overall effect of Mediterranean diet resulted in an increase of DAI, conversely to low-fat. Specific elements included in the DAI index were inversely correlated with IMT-CC.

European value-based healthcare benchmarking: moving from theory to practice.

BACKGROUND: Value-based healthcare (VBHC) is a conceptual framework to improve the value of healthcare by health, care-process and economic outcomes. Benchmarking should provide useful information to identify best practices and therefore a good instrument to improve quality across healthcare organizations. This paper aims to provide a proof-of-concept of the feasibility of an international VBHC benchmarking in breast cancer, with the ultimate aim of being used to share best practices with a data-driven approach among healthcare organizations from different health systems. METHODS: In the VOICE community-a European healthcare centre cluster intending to address VBHC from theory to practice-information on patient-reported, clinical-related, care-process-related and economic-related outcomes were collected. Patient archetypes were identified using clustering techniques and an indicator set following a modified Delphi was defined. Benchmarking was performed using regression models controlling for patient archetypes and socio-demographic characteristics. RESULTS: Six hundred and ninety patients from six healthcare centres were included. A set of 50 health, care-process and economic indicators was distilled for benchmarking. Statistically significant differences across sites have been found in most health outcomes, half of the care-process indicators, and all economic indicators, allowing for identifying the best and worst performers. CONCLUSIONS: To the best of our knowledge, this is the first international experience providing evidence to be used with VBHC benchmarking intention. Differences in indicators across healthcare centres should be used to identify best practices and improve healthcare quality following further research. Applied methods might help to move forward with VBHC benchmarking in other medical conditions.

Synthesis of zeolites from volcanic ash (Tajogaite, Spain) for the remediation of waters contaminated by fluoride.

In the eruptive event of Tajogaite (2021) in La Palma, Canary Islands, large quantities of volcanic ash were accumulated, affecting the local environment and urban areas. In this study, volcanic ash sampled from urban areas (catalogued as municipal waste (20 03 03) by the European Wastes Catalogue) were converted into zeolites by hydrothermal synthesis at 100 °C with previous alkaline fusion at 550 °C with distilled water. During this process, new phases of zeolite principally type X and sodalite have been identified by XRD at 2 h of incubation. These zeolites, with the course of incubation time, present competitive processes where the transformation into sodalite develops after 24 h as the predominant phase. The synthesized zeolitic material presents a high concentration as impurities in Fe2O3 (13.70 wt%), Na2O (12.70 wt%), CaO (11.65 wt%), and TiO2 (3.89 wt%) coming from the volcanic ash and NaOH introduced in the synthesis methodology. These impurities impart different physicochemical capabilities to the zeolitic material. The application of zeolites obtained in a preliminary fluoride adsorption experiment with volcanic leachate water rich in fluoride has been tested in a novel way. Removal efficiencies of 41.4% at acidic pH (5.77) have been obtained with 2 g L-1 adsorbent zeolitic material doses. A value-added material is obtained and applied in a preliminary way to solve a problem generated by the volcanic ash itself, allowing the End of Waste status and meeting different objectives of the sustainable development goals of the UN Agenda 2030.

Comportamiento de la osteomielitis en pacientes pediátricos / Behavior of osteomyelitis in pediatric patients / Comportamento da osteomielite em pacientes pediátricos

Introducción: La osteomielitis es una infección ósea, que afecta con frecuencia a pacientes en edades pediátricas, con comportamiento variado en dependencia de la vía de llegada al hueso, tipo de germen y respuesta del huésped. Objetivo: Describir el comportamiento de un grupo de pacientes pediátricos con osteomielitis. Método: Se realizó estudio observacional descriptivo en 39 pacientes atendidos en el Hospital Pediátrico Provincial Dr. Eduardo Agramonte Piña de la ciudad de Camagüey, en el periodo comprendido desde el primero de enero de 2018 al 31 de diciembre del año 2022, y un total de 60 meses con diagnóstico de osteomielitis. Resultados: De los 39 pacientes investigados predominó el sexo masculino sobre el femenino (2,2:1). La edad promedio fue de 9 años. El promedio de estadía hospitalaria fue de 14,8 días. Las zonas más afectadas fueron las manos, el fémur y tibia distal. Predominó el tratamiento quirúrgico (2,2:1) con relación al conservador. La vía hematógena de llegada al hueso fue la más frecuente en el 86,4 porciento de los casos. El paso a la cronicidad fue la complicación más encontrada (el 33 porciento). El germen aislado con mayor frecuencia fue el Staphylococcus aureus(en el 85 porciento de los enfermos). Los antimicrobianos más indicados fueron la cefazolina, amikacina y fosfocina. Conclusiones: Los resultados obtenidos en la investigación aportan elementos importantes desde el punto de vista epidemiológico en pacientes pediátricos que sufren de osteomielitis, lo que permite implementar estrategias de diagnósticas y terapéuticas en este grupo de pacientes.(AU)

Introduction: Osteomyelitis is an infection in the bone, most frequently affecting patients in pediatric ages, with a variety of behavior on how to reach the bone, type of germ and host response. Objective: To describe the behavior of a group of pediatric patients affected with osteomyelitis. Method: A descriptive observational study was conducted in 39 patients attended at the Hospital Provincial Pediátrico Dr. Eduardo Agramonte Piña in the city of Camagüey, from January 1 2018 to December 31 2022. Patients diagnosed with osteomyelitis throughout 60 months in total. Results: Of the 39 patients studied, the male sex predominated over the female (2.2 to 1). The average age was 9 years old. The average lenght of hospital stay was 14.8 days. The most affected areas were the hands, femur and distal tibia. Surgical treatment predominated (2.2 to 1) in relation to conservative treatment. In the 86.4 percent of cases, hematogenous osteomyelitis was the most frequent infection. The transition to chronic osteomyelitis was the most common complication (33 percent). The most common isolated germ was staphylococcus aureus (in 85 percent of the patients). The most indicated antimicrobials agents were cefazolin, amikacin and fostomycin (Fosfocin). Conclusions: The results of this research provided some important elements base on the epidemiological point of view for pediatric patients with osteomyelitis, also allowed the implementation of diagnostic and therapeutic strategies in this group of patients.(AU)

Introdução: A osteomielite é uma infeção óssea, que afecta frequentemente afecta frequentemente doentes do grupo etário pediátrico, com um comportamento variado, dependendo da via de entrada no osso, do tipo de germe e da resposta do hospedeiro. Objectivo: Mostrar o comportamento de um grupo de doentes pediátricos com osteomielite. Método: Foi realizado um estudo observacional descritivo em 39 pacientes tratados no Hospital Pediátrico Provincial Dr. Eduardo Agramonte Piña, na cidade de Camagüey, no período de 1 de janeiro de 2018 a 31 de dezembro de 2022, e um total de 60 meses com diagnóstico de osteomielite. Resultados: Dos 39 pacientes investigados, o sexo masculino predominou sobre o feminino (2,2 para 1). A idade média foi de 9 anos. A média de permanência hospitalar foi de 14,8 dias. As regiões mais acometidas foram as mãos, o fêmur e a tíbia distal. O tratamento cirúrgico predominou (2,2 para 1) sobre o tratamento conservador. A via hematogénica para o osso foi a mais frequente em 86,4 porcento dos casos. A transição para a cronicidade é a complicação mais frequentemente encontrada (33 porcento). O germe mais frequentemente isolado foi o Staphylococcus aureus (em 85 porcento dos doentes). Os antimicrobianos mais frequentemente indicados foram a cefazolina, a amicacina e a fosfocina. Conclusões: Os resultados obtidos na pesquisa fornecem elementos importantes do ponto de vista epidemiológico em pacientes pediátricos portadores de osteomielite, permitindo a implementação de estratégias diagnósticas e terapêuticas neste grupo de pacientes.(AU)

Enfermedad de CADASIL: ictus familiares / Cadasil disease: Family strokes

El CADASIL es una microangiopatía cerebral de herencia autosómica dominante. Si bien su epidemiologia y patogénesis son poco conocidas, se sabe que está causada por una mutación del gen NOTCH3. Su expresión clínica es variable, dominada por episodios de migraña con aura seguido de episodios isquémicos cerebrales recurrentes, demencia y trastornos neuropsiquiátricos. El diagnóstico final se hace fundamentalmente con resonancia magnética desde la fase presintomática. El manejo del CADASIL es multidisciplinar. A continuación, exponemos el caso de un paciente que presenta múltiples accidentes cerebrovasculares. En la resonancia magnética se observa extensa afectación de sustancia blanca en ambos hemisferios cerebrales y en el estudio genético mutación compatible con enfermedad de CADASIL. (AU)

CADASIL is a brain microangiopathy with autosomal dominant inheritance. Although its epidemiology and pathogenesis are poorly understood, it is known to be caused by a mutation of the Notch3 gene. Its clinical expression is variable, dominated by episodes of migraine with aura followed by recurrent cerebral ischemic episodes, dementia and neuropsychiatric disorders. Final diagnosis is made fundamentally with magnetic resonance imaging from the pre-symptomatic phase. CADASIL is managed in a multidisciplinary way. Below, we report a case of a patient who presented multiple cerebrovascular accidents. Magnetic resonance imaging revealed extensive white matter involvement in both cerebral hemispheres and in the genetic study mutation compatible with CADASIL disease. (AU)