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Background: Patent foramen ovale (PFO) is a prevalent cardiac remnant of fetal anatomy that may pose a risk factor for stroke in some patients, while others can present with asymptomatic white matter (WM) lesions. The current study aimed to test the hypothesis that patients with a PFO who have a history of stroke or transient ischemic attack, compared to those without such a history, have a different burden and distribution of cerebral WM hyperintensities. Additionally, we tested the association between PFO morphological characteristics and severity of shunt, and their impact on the occurrence of ischemic cerebral vascular events and on the burden of cerebral WM lesions. Patients and methods: Retrospective, case-control study that included patients with PFO confirmed by transesophageal echocardiography. Right-to-left shunt size was assessed using transcranial Doppler ultrasound. Cerebral MRIs were analyzed for all participants using the semi-automated Quantib NDTM software for the objective quantification of WM lesions. WM lesions volume was compared between patients with and without a history of stroke. Additionally, the anatomical characteristics of PFOs were assessed to explore their relation to stroke occurrence and WM lesions volume. Results: Of the initial 264 patients diagnosed with PFO, 67 met the inclusion criteria and were included in the analysis. Of them, 62% had a history of PFO-related stroke/TIA. Overall burden of WM lesions, including stroke volume, was not significantly different (p = 0.103). However, after excluding stroke volume, WM lesions volume was significantly higher in patients without stroke (0.27 cm3, IQR 0.03-0.60) compared to those with stroke/TIA (0.08 cm3, IQR 0.02-0.18), p = 0.019. Patients with a history of PFO-related stroke/TIA had a tendency to larger PFO sizes by comparison to those without, in terms of length and height, and exhibited greater right-to-left shunt volumes. Discussion: We suggest that PFO may be associated with the development of two distinct cerebrovascular conditions (stroke and "silent" WM lesions), each characterized by unique imaging patterns. Further studies are needed to identify better the "at-risk" PFOs and gain deeper insights into their clinical implications.
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To date, little is known about the usefulness of ultra-high frequency ultrasound (UHF-US, 50-70 MHz) in clinical practice for the diagnosis of dysimmune neuropathies. We present a prospective study aimed at comparing UHF-US alterations of nerves and fascicles in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), distal CIDP (d-CIDP) and anti-MAG neuropathy and their relationships with clinical and electrodiagnostic (EDX) features. 28 patients were included (twelve CIDP, 6 d-CIDP and 10 anti-MAG) and ten healthy controls. Each patient underwent neurological examination, EDX and UHF-US study of median and ulnar nerves bilaterally. UHF-US was reliable in differentiating immune neuropathies from controls when using mean and/or segmental nerve and/or fascicle cross-sectional area (CSA); furthermore, fascicle ratio (fascicle/nerve CSA) was a reliable factor for differentiating d-CIDP from other types of polyneuropathies. The fascicle CSA appears to be more increased in CIDP and its variant than in anti-MAG neuropathy. UHF-US offers information beyond simple nerve CSA and allows for a better characterization of the different forms of dysimmune neuropathies.
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Polineuropatías , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante , Humanos , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/diagnóstico por imagen , Estudios Prospectivos , Ultrasonografía , Nervio Cubital/diagnóstico por imagen , Glicoproteína Asociada a Mielina , Autoanticuerpos , Nervios Periféricos/diagnóstico por imagen , Conducción NerviosaRESUMEN
Patent foramen ovale (PFO) is a common cardiac anomaly linked with cryptogenic strokes and migraine, particularly migraine with aura. This study aims to explore the spectrum of headache disorders in PFO patients, focusing on identifying patterns beyond the well-established migraine-PFO connection. A retrospective observational study was conducted on patients diagnosed with PFO. Headache types were classified using the International Classification of Headache Disorders, 3rd edition. The study analyzed headache prevalence and patterns in PFO patients, comparing those with and without a history of stroke. Of 177 participants, 63 (35.59%) reported headaches. Tension-type headache was the most common (15.25%), followed by migraine without aura (11.30%) and migraine with aura (8.47%). Notably, migraine without aura was more prevalent than migraine with aura, contrasting previous assumptions. No significant differences were found in headache types based on stroke history. The study reveals a diverse spectrum of headache types in PFO patients, with migraine without aura being more common than migraine with aura. These findings suggest a need for broader diagnostic perspective and individualized treatment approaches in PFO patients with headaches.
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Foramen Oval Permeable , Migraña con Aura , Humanos , Foramen Oval Permeable/complicaciones , Foramen Oval Permeable/epidemiología , Femenino , Masculino , Estudios Retrospectivos , Adulto , Persona de Mediana Edad , Migraña con Aura/epidemiología , Prevalencia , Cefalea/epidemiología , Cefalea/etiología , Cefalea/diagnóstico , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/epidemiologíaRESUMEN
BACKGROUND: Alzheimer disease (AD) and Parkinson disease (PD) are the 2 most common neurodegenerative diseases affecting millions of people worldwide. The Personalized Integrated Care Promoting Quality of Life for Older People (PC4L) project proposes an integrated, scalable, and interactive care ecosystem that can be easily adapted to the needs of several neurodegenerative and chronic diseases, care institutions, and end user requirements. OBJECTIVE: The study protocol developed within the framework of the PC4L project aims to iteratively test the integrated platform and its modules, and focuses primarily on assessing the impact of the proposed solution (ie, the PC4L platform) on patients' quality of life, as well as its usability and feasibility on a large-scale sample size in 3 different scenarios (home, neurorehabilitation, and day care centers). METHODS: A prospective multicenter clinical study is conducted in 5 European countries (Germany, Italy, Portugal, Romania, and Spain) at 6 different pilot centers, for 3 months, in patients with PD, Parkinsonism, AD, and other dementias (ODs). Patients were randomized in a ratio of 1:1 to the intervention group (use of the PC4L system) or the control group (no intervention). The PC4L system consists mainly of a wristband for monitoring parameters such as steps and levels of physical activity, and the PC4L app, which includes different engaging functionalities. Both groups are assessed through baseline and end-of-study clinical evaluations, including assessment of quality of life through the EQ-5D-3L scale. RESULTS: The study protocol is part of a project approved and funded by the European Commission Horizon 2020 (grant agreement number 875221). The ethics committees of all involved centers reviewed and approved the study protocol. The study began with the recruitment phase in September 2022, and enrollment ended in February 2023. Recruitment is now closed (April 2023). The results of this study are expected to be published in summer 2023. A total of 558 patients, 279 per study group, were recruited. The results will allow to clarify the impact of PC4L on quality of life, will assess the empowerment of patients and the medical resources use, as well as the usability of the final version of the PC4L system. It will also provide information on the support of the system as a tool to facilitate the decision-making process. CONCLUSIONS: The PC4L project intends to test a technology-based, integrated, scalable, and interactive care platform on patients with neurodegenerative diseases and proposes a good coordinated care model between all involved actors. Future developments of the PC4L solution may involve caregivers and socio-health professionals in the decision-making process in order to facilitate efficient communication between all stakeholders and ensure reliable and protected access to data within Europe. TRIAL REGISTRATION: ClinicalTrials.gov NCT05538455; https://clinicaltrials.gov/study/NCT05538455. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/47916.
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Background: While stroke is one of the most dissected topics in neurology, the primary prevention of PFO-related stroke in young patients is still an unaddressed subject. We present a study concerning clinical, demographic, and laboratory factors associated with stroke and transient ischemic attack in patients with patent foramen ovale (PFO), as well as comparing PFO-patients with and without cerebrovascular ischemic events (CVEs). Patients and methods: Consecutive patients with PFO-associated CVEs were included in the study; control group was selected from patients with a PFO and no history of stroke. All participants underwent peripheral routine blood analyses, as well as, on treating physician's recommendations, screening for thrombophilia. Results: Ninety-five patients with CVEs and 41 controls were included. Females had a significantly lower risk of CVEs than males (p = 0.04). PFO size was similar between patients and controls. Patients with CVEs had more often hypertension (n = 33, 34.7%), p = 0.007. No significant differences were found between the two groups with regard to routine laboratory tests and thrombophilia status. Hypertension and gender were identified in a binomial logistic regression model as independent predictors for CVEs, but with an area under the ROC curve of 0.531, suggesting a very poor level of discrimination between the two groups. Discussion and conclusions: There is little difference between patients with PFO with and without CVEs in terms of PFO size and routine laboratory analyses. While still a controversial topic in the specialty literature, classic first-level thrombophilic mutations are not a risk factor for stroke in patients with PFO. Hypertension and male gender were identified as factors associated with a higher risk of stroke in the setting of PFO.
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We report an extremely rare case of locally advanced prostate cancer in a phenotypic male patient with persistent müllerian duct syndrome. The patient underwent a robot-assisted retzius-sparing radical prostatectomy, bilateral pelvic lymph node dissection, radical hysterectomy, vaginectomy, and salpingo-ophorectomy. He was continent at 3 months follow-up. His follow-up PSA has steadily increased up to 1.4 ng/mL 6 months following surgery and his PSMA-PET scan showed bone metastasis with no local recurrence, and androgen deprivation therapy was started along with docetaxel chemotherapy. Prostate cancer in patients with DSD is extremely rare and can manifest itself with a low PSA, although aggressive cancer.
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BACKGROUND AND OBJECTIVES: Severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) that causes Coronavirus Disease 2019 (COVID-19) may determine a series of neurological complications directly, by invasion of the nervous system or indirectly, secondary to systemic organ failure. Posterior reversible encephalopathy syndrome (PRES) represents a clinical and radiological neurological entity involving predominantly the occipital lobes. PRES was observed in patients receiving cytotoxic drugs, patients suffering from infectious diseases and sepsis, hypertensive emergencies and eclampsia, renal or autoimmune diseases. As more infectious SARS-COV-2 variants are now dominant in most of the Europe, an increasing number of patients is presenting to the Emergency Department. MATERIALS AND METHODS: Case report of a 38-year-old patient, with previous exposure to SARS-COV-2 presented to the Emergency Department (ED) with generalized tonic-clonic seizures, dyspnea, cortical blindness and aphasia. The patient had been exhibiting fever, cough and shortness of breath in the previous 10 days. He had no relevant medical history and was receiving antibiotics and corticosteroids as prescribed by his general practitioner. RESULTS: Laboratory findings together with the thoracic computed tomography scan were consistent with the diagnosis of severe SARS-COV-2 pneumonia. The cerebral MRI scans showed bilateral T2-weighted/FLAIR hyperintensities that were suggestive for PRES. The patient was diagnosed with COVID-19 complicated with PRES. He received adequate treatment and the symptoms resolved in 48 h. CONCLUSIONS: This is a rare and interesting case of a patient with PRES and COVID-19 as underlying pathology, in whom rapid diagnosis in the ED and early initiation of appropriate treatment led to full recovery. Immediate extensive work-up in patients with COVID-19 and neurological symptoms proves to be paramount for best outcome. To our knowledge this is the first case of PRES described in a patient with Delta variant of SARS-COV-2.
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COVID-19 , Síndrome de Leucoencefalopatía Posterior , Complicaciones Infecciosas del Embarazo , Adulto , COVID-19/complicaciones , Femenino , Humanos , Masculino , Síndrome de Leucoencefalopatía Posterior/diagnóstico por imagen , Síndrome de Leucoencefalopatía Posterior/etiología , Embarazo , SARS-CoV-2 , Convulsiones/complicacionesRESUMEN
INTRODUCTION: Myasthenia gravis is an autoimmune disorder affecting neuromuscular transmission, and its hallmark is fluctuating muscular weakness affecting the ocular, bulbar, respiratory, or limb muscles. Our objective is to highlight the difficulties encountered in diagnosing this disorder in patients lacking this characteristic phenomenon. METHODS: Three cases of patients presenting with progressive weakness of bulbar and ocular muscles, in whom a lack of fluctuation delayed the diagnosis of myasthenia gravis, are described. RESULTS: Amyotrophic lateral sclerosis was considered in two of the patients, while cavernous sinus thrombosis was initially diagnosed in the third. Electrodiagnostic, pharmacologic, and serologic testing ultimately established the diagnosis of myasthenia gravis. CONCLUSION: While the typical clinical pattern of myasthenia gravis is well known and easily recognizable, there are cases when the diagnosis, and thus the treatment, is delayed because of low or absent fluctuation of symptoms. The acknowledgment of this probably underestimated presentation is important for expeditious management.
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RATIONALE: Systemic lupus erythematosus (SLE) is characterized by numerous immunological abnormalities that lead to multiorgan involvement. Central and peripheral nervous system manifestations are present in 8% to 92% of the cases of SLE. Furthermore, there have been reported cases of secondary autoimmune myelofibrosis associated with SLE. PATIENT CONCERNS: We present the case of a 64-year-old female who was transferred from the Cardiology Department, where she was admitted for pericardial-pleural-peritoneal effusion after being discharged from another hospital following the resolution of a febrile episode. During hospitalization, she presented multiple oculomotor nerves palsies and weakness in the lower limbs. Serial cerebral magnetic resonance imaging (MRI) revealed extensive cerebral venous thrombosis. Nerve conduction studies showed sensory-motor axonal polyneuropathy. Thoracic MRI revealed a rare finding in patients with SLE - lytic lesions. DIAGNOSES: Extensive clinical, imaging, blood, and urine tests were performed. The patient exhibited pancytopenia, elevated inflammatory markers, hyperhomocysteinemia, mild hypoproteinemia, and severe proteinuria. The Hematology consultation ascertained that the peripheral blood smear and the bone marrow aspiration showed no alterations suggestive for a primary hematological disease and the thoracic vertebral-medullary MRI changes had a very low probability of representing osteolytic lesions in the context of plasma cells dyscrasia, but could not exclude their being result of a secondary autoimmune myelofibrosis. Immunology blood tests highlighted the presence of antinuclear antibodies and lupus anticoagulants. In this context, the Rheumatology consultation established the diagnosis of SLE with multiple complications. INTERVENTIONS: The patient received treatment with cyclophosphamide. OUTCOMES: The ocular motricity problems and the paraparesis showed improvement. However, 1 week later, the patient developed weakness, dyspnea, and right lower quadrant abdominal pain. The abdominal-pelvic computed tomography scan indicated an acute right retroperitoneal hematoma with active bleeding for which she underwent arterial embolization of the spinal lumbar arteries with optimal result, but she died a few days later. LESSONS: We chose to present this case in order to highlight the importance of interdisciplinarity in diagnosing and managing patients with SLE and multiorgan ailments, especially when faced with rare constellations of complications such as extensive cerebral venous thrombosis and osseous lytic lesions caused by secondary autoimmune myelofibrosis.
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Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/diagnóstico , Fiebre/etiología , Lupus Eritematoso Sistémico/diagnóstico , Vasculitis por Lupus del Sistema Nervioso Central/diagnóstico , Mielofibrosis Primaria/diagnóstico , Anticuerpos Antinucleares , Autoinmunidad , Ciclofosfamida/uso terapéutico , Resultado Fatal , Femenino , Humanos , Lupus Eritematoso Sistémico/complicaciones , Vasculitis por Lupus del Sistema Nervioso Central/complicaciones , Imagen por Resonancia Magnética , Persona de Mediana Edad , Mielofibrosis Primaria/complicaciones , Resultado del Tratamiento , Trombosis de la VenaRESUMEN
Appendiceal neoplasms are rare, occurring in <1.4% of all appendicectomy specimens. Carcinoid tumours and adenocarcinomas comprise the majority of cases, however, lymphomas or sarcomas may also arise within the appendix. Appendiceal leiomyosarcomas are rare and to date, there remains a relative dearth of cases reported in the literature. Leiomyosarcomas are derived from the smooth muscle cells or mesenchymal stem cells committed to this line of differentiation. However, their pathogenesis and underlying genetic mechanism remains to be fully elucidated. Unbalanced karyotypic defects are the only shared features observed across different leiomyosarcoma subtypes. Children with AIDS have a higher incidence compared with adults, where the main pathology in individuals with HIV is Kaposi's sarcoma and B-cell lymphoma. Although surgical excision with clear margins remains the treatment of choice, a good response to treatment with gemcitabine, docetaxel and trabectedin has been observed. The authors present the case of a 23-year-old female presenting to the emergency department with acute appendicitis. She underwent a laparoscopic converted to an open appendectomy. Her operation was complicated by a pelvic collection requiring percutaneous drainage and an ileus. Histopathological examination confirmed the diagnosis of a leiomyosarcoma, a rare mesenchymal tumour presenting in individuals with immune suppression. HIV serology was positive and she commenced anti-retroviral therapy. She remains under review in the Department of HIV Medicine.
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Neoplasias del Apéndice/diagnóstico , Apendicitis/diagnóstico , Infecciones por VIH/diagnóstico , Leiomiosarcoma/diagnóstico , Lesión Renal Aguda , Apendicectomía , Neoplasias del Apéndice/inmunología , Neoplasias del Apéndice/patología , Neoplasias del Apéndice/cirugía , Diagnóstico Diferencial , Femenino , Infecciones por VIH/inmunología , Humanos , Hipopotasemia , Ileus , Huésped Inmunocomprometido , Leiomiosarcoma/inmunología , Leiomiosarcoma/patología , Leiomiosarcoma/cirugía , Complicaciones Posoperatorias , Infección de la Herida Quirúrgica , Adulto JovenRESUMEN
Stroke etiology in the form of a CAP should be actively explored, especially in the context of previous negative work-up and anticoagulant-refractory strokes. Dual antiplatelet therapy proved superior to anticoagulation for secondary prevention.
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BACKGROUND: Moyamoya-like vasculopathy (MMV) and myosin heavy chain 9-related platelet disorders (MYH9-RPDs) or macrothrombocitopenias are rare syndromes. Their association is even more infrequent. CASE PRESENTATION: A 29-year-old female with history of MYH9-RPD, presented to our department for episodes suggesting transient ischemic attacks. Based on the imaging studies that revealed multiple ischemic lesions and stenoses of both distal internal carotid arteries and the arteries of the circle of Willis, the diagnosis of MMV was established. The treatment with Verapamil was initiated, leading to symptom remission. Two months later, the patient presented one episode of dysarthria, followed by involuntary movements of the right upper limb, few days later. Long-term electroencephalogram monitoring depicted epileptiform abnormalities. Resolution of symptoms was obtained after increasing the dose of Verapamil, and initiating Levetiracetam. CONCLUSIONS: This is an interesting case of a patient with two rare pathologies, who presented with cerebral ischemic strokes. To our knowledge there are few cases described in the literature presenting with cerebral hemorrhagic events but none of them with multiple cerebral ischemic lesions. As these cases are very rare, it is important to gather evidence regarding the best approach and treatment strategy.
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Ataque Isquémico Transitorio/etiología , Enfermedad de Moyamoya/complicaciones , Cadenas Pesadas de Miosina/genética , Trombocitopenia/complicaciones , Trombocitopenia/genética , Adulto , Femenino , HumanosRESUMEN
Objectives: Carotid artery dissection represents a common cause of stroke among people aged 30-45. We present two clinical cases and a review of the literature concerning the management of internal carotid artery dissections (ICADs). Materials and methods: The two patients are a 54-year-old male and a 40-year-old female. The first patient presented to our Neurology Department for one-week-old intense occipital headache. His clinical examination revealed left-sided miosis and upper eyelid ptosis. He underwent cerebral-cervical computed tomography (CT) and computed tomography angiography (CTA) scans and the latter revealed hemodynamically significant narrowing of both ICAs (right C1-C5 and left C1-C2 segments). Transcranial Doppler ultrasonography and Doppler ultrasonography (DUS) of the cervical-cerebral arteries showed right ICA occlusion at its origin (dissection fold and intraluminal thrombosis). Cervical magnetic resonance imaging (MRI) and time-of-flight magnetic resonance angiography (MRA) revealed a semilunar-shaped T2-weighted hypersignal present in the walls of the C1-C5 segments of the right ICA and of the C1-C2 segments of the left ICA, with bilaterally reduced intraluminal flow (right more than left). These findings indicated the presence of bilateral ICA intramural hematomas caused by subacute bilateral ICAD. The second patient presented to our Neurology Department for recurrent episodes of headache and lateral cervical pain on both sides. She underwent transcranial DUS and DUS of the cervicalcerebral arteries. They revealed right ICAD fold in its upper cervical segments. The CTA scan of the supra-aortic trunks showed hemodynamically significant narrowing with subsequent diminished blood flow in the upper cervical segments of right ICA. The patient was diagnosed with right ICAD. Results:Both patients were treated using antiplatelet therapy for primary prevention of ischaemic events. Follow-up at seven months and at six months, respectively, by means of CTA of the supra-aortic trunks or MRA of the cervical region, revealed the restoration of arterial patency with subsequent normal blood flow in both cases. Conclusions: The long-term outcomes of ICADs should be kept in mind when assigning medical or endovascular management on a case-by-case basis. Antiplatelet or anticoagulant therapy is a safe and effective first-line strategy in such patients, especially in cases that do not warrant particular management.