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1.
Clin Genet ; 98(1): 19-31, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32291752

RESUMO

Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contractures, camptodactyly, widely spaced teeth, and constriction rings. We also propose novel occasional features including craniosynostosis, ocular pterygia, anterior chamber cleavage syndrome, early osteoporosis, increased pigmentation, recurrent haematomas, predisposition to cellulitis, nail dystrophy, carpal tunnel syndrome, recurrent hypoglycaemia in infancy, joint dislocation, and splenomegaly. Importantly, we report fusiform aneurysm of the basilar artery in two patients. Complications include thrombosis and stroke in the oldest reported patient and fatal rupture at the age of 21 in the patient with the novel variant. We conclude that cerebrovascular complications are part of the phenotypic spectrum of KOGS and KOGS-like disorders and suggest vascular imaging is indicated in these patients.


Assuntos
Transtornos Cerebrovasculares/etiologia , Transtornos Cerebrovasculares/genética , Variação Genética/genética , Transtornos do Crescimento/complicações , Transtornos do Crescimento/genética , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo
2.
Cerebrovasc Dis ; 42(3-4): 205-12, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27111336

RESUMO

BACKGROUND: Since the use of tissue plasminogen activator for acute ischemic stroke (IS), stroke care pathways have been developed for patients with suspicion of acute stroke. The aim of this prospective observational study was to analyze the stroke mimic (SM) characteristics in patients who were part of our stroke care pathway. METHODS: All consecutive patients admitted in the code stroke within a 1-year period were prospectively enrolled in this study. Patients with a sudden onset of neurological focal deficit in a time window less than 4H30 as indicated for intravenous thrombolysis, had been accepted in the pathway by a neurologist who was directly contactable by the prehospital emergency medical service 24 h per day. Patients arrived directly on the MRI site without passing by the emergency department. A clinical neurological evaluation and a brain MRI with tri-dimensional time-of-flight magnetic resonance angiography were performed. The FAST score was calculated a posteriori. The final discharge diagnosis was concluded either immediately after both neurological examination and cerebrovascular neuroimaging or after other relevant investigations. We classified the discharge diagnosis into neurovascular diseases (NVDs) and into SM. RESULTS: There were 1,361 consecutive patients admitted for suspicion of acute stroke. Sixty-two percent (n = 840) had an NVD including IS (n = 529), transient ischemic attacks (n = 236), intracranial hemorrhages (n = 68), cerebral venous thrombosis (n = 3) and neurovascular medullar pathologies (n = 4). SM represented 38% of cases (n = 521) and the most frequent discharge diagnosis was defined as headaches (18.6%), psychological disorders (16.7%), peripheral vertigo (11.9%) and epilepsy (10.6%). The comparison between the characteristics of the NVD and those of the SM groups showed some significant differences: in the SM group, women were more represented, patients were younger and the NIHSS was lower than in the NVD group. All cardiovascular risk factors were more represented in the NVD group. Concerning the symptoms, motor deficit, speech disturbances, homonymous lateral hemianopia and head and gaze deviation were more represented in the NVD group, whereas vertigo, non-systematized visual trouble, headache, confusion, weakness, neuropsychological symptoms, seizure and chest pain were significantly more frequent in the SM group. The negative predictive value of the FAST score was 64% and the positive predictive value was 76%. CONCLUSIONS: A rate of SM up to 38% of the code stroke system confirms the difficulty to distinguish clinically a stroke from another diagnosis. In this study, using cerebral MRI in first intention was of special interest in patients with acute neurological symptoms to differentiate an NVD from an SM.


Assuntos
Encéfalo/diagnóstico por imagem , Angiografia Cerebral/métodos , Procedimentos Clínicos , Angiografia por Ressonância Magnética , Acidente Vascular Cerebral/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Encéfalo/fisiopatologia , Diagnóstico Diferencial , Feminino , Fibrinolíticos/administração & dosagem , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Valor Preditivo dos Testes , Estudos Prospectivos , Acidente Vascular Cerebral/tratamento farmacológico , Acidente Vascular Cerebral/fisiopatologia , Terapia Trombolítica , Adulto Jovem
3.
J Neurol ; 270(12): 6113-6123, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37668701

RESUMO

BACKGROUND: Acute ischemic stroke (AIS) is an immediate emergency whose management is becoming more and more personalized while facing a limited number of neurologists with high expertise. Clinical decision support systems (CDSS) are digital tools leveraging information and artificial intelligence technologies. Here, we present the Strokecopilot project, a CDSS for the management of the acute phase of AIS. It has been designed to support the evidence-based medicine reasoning of neurologists regarding the indications of intravenous thrombolysis (IVT) and endovascular treatments (ET). METHODS: Reference populations were manually extracted from the field's main guidelines and randomized clinical trials (RCT). Their characteristics were harmonized in a computerized reference database. We developed a web application whose algorithm identifies the reference populations matching the patient's characteristics. It returns the latter's outcomes in a graphical user interface (GUI), whose design has been driven by real-world practices. RESULTS: Strokecopilot has been released at www.digitalneurology.net . The reference database includes 25 reference populations from 2 guidelines and 15 RCTs. After a request, the reference populations matching the patient characteristics are displayed with a summary and a meta-analysis of their results. The status regarding IVT and ET indications are presented as "in guidelines", "in literature", or "outside literature references". The GUI is updated to provide several levels of explanation. Strokecopilot may be updated as the literature evolves by loading a new version of the reference populations' database. CONCLUSION: Strokecopilot is a literature-based CDSS, developed to support neurologists in the management of the acute phase of AIS.


Assuntos
Isquemia Encefálica , Sistemas de Apoio a Decisões Clínicas , AVC Isquêmico , Acidente Vascular Cerebral , Humanos , Acidente Vascular Cerebral/tratamento farmacológico , Isquemia Encefálica/tratamento farmacológico , Fibrinolíticos/uso terapêutico , Terapia Trombolítica/métodos , AVC Isquêmico/tratamento farmacológico , Resultado do Tratamento
4.
Interv Neuroradiol ; 29(3): 268-276, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35253529

RESUMO

BACKGROUND: There is no consensus regarding optimal antiplatelet regimen for emergent carotid stenting during stroke thrombectomy. We aimed to assess the safety and efficacy of an aggressive periprocedural antiplatelet strategy focused on preserving stent patency, in comparison with conservative antiplatelet strategy consisting of aspirin monotherapy. MATERIALS AND METHODS: Retrospective review of a prospectively collected database in a comprehensive stroke center, including all cases of emergent carotid stenting for tandem lesions stroke between 01.03.2012-01.06.2021. Aggressive antiplatelet strategy consisted of dual antiplatelet therapy (DAPT) with aspirin and clopidogrel loading doses, with added intravenous (IV) tirofiban if in-stent thrombosis was observed during thrombectomy. Clinical and radiological outcomes were compared between conservative and aggressive antiplatelet treatment groups using inverse probability of treatment weighting (IPTW) analysis based on propensity scores. RESULTS: We included 132 cases (76.5% atheroma, 22.7% dissection, 0.7% carotid web). Forty-five patients (34%) cases received conservative antiplatelet therapy. The remaining 87 (65.9%) received aggressive antiplatelet therapy: 66 (75.8%) treated with DAPT, 21 (24.1%) with DAPT and tirofiban. Periprocedural heparin was avoided in all cases. In adjusted analysis of the weighted samples, aggressive antiplatelet strategy was associated with improved carotid stent patency (aOR 0.23, 95% CI 0.07-0.80, p = 0.021), higher proportion of moderate clinical outcome (mRS ≤ 3, aOR 2.72, 95% CI 1.01-7.30, p = 0.04), with no significant differences in mortality and hemorrhagic transformation (HT) rates. CONCLUSIONS: In this retrospective study, aggressive periprocedural antiplatelet strategy led to improved stent patency and clinical outcomes, without increased HT. Further prospective randomized research is warranted to identify the optimal combination of antiplatelet agents for emergent carotid stenting in the setting of acute stroke.


Assuntos
Inibidores da Agregação Plaquetária , Acidente Vascular Cerebral , Humanos , Inibidores da Agregação Plaquetária/uso terapêutico , Tirofibana/uso terapêutico , Estudos Retrospectivos , Acidente Vascular Cerebral/tratamento farmacológico , Acidente Vascular Cerebral/cirurgia , Trombectomia/métodos , Aspirina/uso terapêutico , Stents , Hemorragia , Resultado do Tratamento
5.
Medicine (Baltimore) ; 100(10): e24708, 2021 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-33725828

RESUMO

RATIONALE: Pathogeny of thrombosis in COVID-19 is related to interaction of SARS-Cov-2 with vascular wall through the angiotensin converting enzyme 2 (ACE2) receptor. This induces 2 pathways with immunothrombosis from activated endothelium (cytokine storm, leukocyte and platelet recruitment, and activation of coagulation extrinsic pathway), and rise of angiotensin II levels promoting inflammation. While thrombosis is widely described in COVID-19 patients admitted in intensive care unit, cerebrovascular diseases remains rare, in particular cerebral venous thrombosis (CVT). PATIENT CONCERNS: We describe 2 cases of women admitted during the spring of 2020 for intracranial hypertension signs, in stroke units in Great-east, a French area particularly affected by COVID-19 pandemia. DIAGNOSES: Cerebral imaging revealed extended CVT in both cases. The first case described was more serious due to right supratentorial venous infarction with hemorrhagic transformation leading to herniation. Both patients presented typical pneumonia due to SARS-Cov-2 infection, confirmed by reverse transcription polymerase chain reaction on a nasopharyngeal swab in only one. INTERVENTIONS: The first patient had to undergo decompressive craniectomy, and both patients were treated with anticoagulation therapy. OUTCOMES: Favorable outcome was observed for 1 patient. Persistent coma, due to bi thalamic infarction, remained for the other with more serious presentation. LESSONS: CVT, as a serious complication of COVID-19, has to be searched in all patients with intracranial hypertension syndrome. Data about anticoagulation therapy to prevent such serious thrombosis in SARS-Cov-2 infection are lacking, in particular in patients with mild and moderate COVID-19.


Assuntos
COVID-19/complicações , Trombose Intracraniana/etiologia , Anticoagulantes/uso terapêutico , COVID-19/imunologia , Craniectomia Descompressiva/métodos , Feminino , Humanos , Trombose Intracraniana/imunologia , Trombose Intracraniana/terapia , Pessoa de Meia-Idade , SARS-CoV-2 , Adulto Jovem
8.
Front Physiol ; 9: 622, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29896112

RESUMO

While cannabis is perceived as a relatively safe drug by the public, accumulating clinical data suggest detrimental cardiovascular effects of cannabinoids. Cannabis has been legalized in several countries and jurisdictions recently. Experimental studies specifically targeting cannabinoids' effects on the cerebral vasculature are rare. There is evidence for transient vasoconstrictive effects of cannabinoids in the peripheral and cerebral vasculature in a complex interplay of vasodilation and vasoconstriction. Vasoreactivity to cannabinoids is dependent on the specific molecules, their metabolites and dose, baseline vascular tone, and vessel characteristics as well as experimental conditions and animal species. We systematically review the currently available literature of experimental results in in vivo and in vitro animal studies, examining cannabinoids' effects on circulation and reactive vasodilation or vasoconstriction, with a particular focus on the cerebral vascular bed.

9.
Interv Neuroradiol ; 21(6): 724-7, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26472637

RESUMO

Intracranial dural arteriovenous fistulas (dAVFs) with perimedullary drainage represent a rare subtype of intracranial dAVF. Patients usually experience slowly progressive ascending myelopathy and/or lower brainstem signs. We present a case of foramen magnum dural arteriovenous fistula with an atypical clinical presentation. The patient initially presented with a generalised tonic-clonic seizure and no signs of myelopathy, followed one month later by rapidly progressive tetraplegia and respiratory insufficiency. The venous drainage of the fistula was directed both to the left temporal lobe and to the perimedullary veins (type III + V), causing venous congestion and oedema in these areas and explaining this unusual combination of symptoms. Rotational angiography and overlays with magnetic resonance imaging volumes were helpful in delineating the complex anatomy of the fistula. After endovascular embolisation, there was complete remission of venous congestion on imaging and significant clinical improvement. To our knowledge, this is the first report of a craniocervical junction fistula presenting with epilepsy.


Assuntos
Malformações Vasculares do Sistema Nervoso Central/complicações , Malformações Vasculares do Sistema Nervoso Central/terapia , Embolização Terapêutica/métodos , Epilepsia/etiologia , Forame Magno , Adulto , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Angiografia Cerebral , Diagnóstico Diferencial , Progressão da Doença , Combinação de Medicamentos , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Polivinil/uso terapêutico , Tantálio/uso terapêutico
10.
J Neurol ; 262(2): 435-42, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25451852

RESUMO

Fragile X-associated tremor ataxia syndrome (FXTAS) is caused by FMR1 premutation. The features include ataxia, action tremor and middle cerebellar peduncle (MCP) hyperintensity, the latter being the only major radiological criterion in the diagnosis of definite FXTAS until very recently. The importance of corpus callosum splenium (CCS) hyperintensity was recently reported and this sign is now considered as an additional major radiological diagnostic criterion in the diagnosis of FXTAS. However, little is known about its relevance for the diagnosis of FXTAS in clinical practice. We report a practical justification of the relevance of CCS hyperintensity in parallel with MCP hyperintensity for the diagnosis of FXTAS. Clinical and radiological study of 22 FMR1 premutation carriers with neurological signs that may be encountered in FXTAS compared to series of patients with essential tremor, multiple system atrophy of cerebellar type, Parkinson's disease, Alzheimer's disease and stroke. Among the 22 patients with FMR1 premutation [17 men, 5 women; mean age, 63 ± 7.5 (46-84)], 14 were diagnosed with definite FXTAS with the initial criteria. Considering CCS hyperintensity as a new major radiological criterion permitted the diagnosis of definite FXTAS in 3 additional patients. Overall CCS proved as frequent as MCP hyperintensity (64 versus 64 %), while 23 % of patients had CCS but not MCP hyperintensity, 14 % of patients had CCS hyperintensity but neither MCP, nor brainstem hyperintensity. In contrast with CCS hyperintensity, MCP hyperintensity proved less frequent in women than in men. CCS and MCP hyperintensity were more frequent in FXTAS than in the other neurodegenerative disorders. The combination of CCS and MCP hyperintensity was specific of FXTAS. We confirmed the relevance of CCS hyperintensity in FXTAS and we clarified its interest compared to MCP hyperintensity. Our results support the inclusion of CCS hyperintensity in the diagnostic criteria as a new major radiological criterion.


Assuntos
Ataxia/diagnóstico , Corpo Caloso/patologia , Síndrome do Cromossomo X Frágil/diagnóstico , Pedúnculo Cerebelar Médio/patologia , Tremor/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Feminino , Proteína do X Frágil da Deficiência Intelectual/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade
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