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1.
Eur J Neurol ; 30(5): 1312-1319, 2023 05.
Article in English | MEDLINE | ID: mdl-36746650

ABSTRACT

BACKGROUND AND PURPOSE: The best reperfusion treatment for patients with mild acute ischaemic stroke harbouring proximal anterior circulation large vessel occlusion (LVO) is unknown. The aim was to compare the safety and efficacy of intravenous thrombolysis (IVT) plus endovascular thrombectomy (EVT) versus IVT alone in LVO patients with mild symptoms. METHODS: From the Safe Implementation of Treatment in Stroke-International Stroke Thrombolysis and Thrombectomy Register (SITS-ISTR), were included: (i) consecutive acute ischaemic stroke patients, (ii) treated within 4.5 h from symptoms onset, (iii) baseline National Institutes of Health Stroke Scale (NIHSS) score ≤5 and (iv) intracranial internal carotid artery [ICA], M1 or T occlusion [defined as occlusion of ICA terminal bifurcation]. After propensity score matching, 3-month functional outcomes (modified Rankin Scale [mRS] 0-1 and 0-2) and safety outcomes (symptomatic intracerebral haemorrhage and death) were compared (via univariable and multivariable logistic [and ordinal] regression analyses) in patients treated with IVT + EVT versus IVT alone. RESULTS: In all, 1037 patients were included. After propensity score matching (n = 312 per group), IVT + EVT was independently associated with poor functional outcomes (adjusted odds ratio [aOR] 0.46 for mRS 0-1, 95% confidence interval [CI] 0.30-0.72, p = 0.001; aOR 0.52 for mRS 0-2, 95% CI 0.32-0.84, p = 0.007; aOR 1.61 for 1-point shift in mRS score, 95% CI 1.12-2.32, p = 0.011), with no significant differences in safety outcomes compared to IVT alone, despite numerically higher rates of symptomatic intracerebral haemorrhage (3.3% vs. 1.1%; p = 0.082), a higher rate of any haemorrhagic transformation (17.6% vs. 7.3%; p < 0.001) and subarachnoid haemorrhage (7.9% vs. 1.5%; p = 0.002) in the IVT + EVT group. DISCUSSION: In anterior circulation LVO patients presenting with NIHSS score ≤5, IVT + EVT (vs. IVT alone) was associated with poorer 3-month functional outcome. Randomized controlled trials are needed to elucidate the best treatments in mild LVO patients.


Subject(s)
Brain Ischemia , Endovascular Procedures , Ischemic Stroke , Stroke , Humans , Stroke/drug therapy , Brain Ischemia/drug therapy , Thrombolytic Therapy/adverse effects , Propensity Score , Treatment Outcome , Endovascular Procedures/adverse effects , Thrombectomy/adverse effects , Ischemic Stroke/etiology , Cerebral Hemorrhage/etiology , Fibrinolytic Agents
2.
Metab Brain Dis ; 36(7): 1871-1878, 2021 10.
Article in English | MEDLINE | ID: mdl-34357553

ABSTRACT

Cerebral cavernous malformations (CCM) consist of clusters of irregular dilated capillaries and represent the second most common type of vascular malformation affecting the central nervous system. CCM might be asymptomatic or cause cerebral hemorrhage, seizures, recurrent headaches and focal neurologic deficits. Causative mutations underlining CCM have been reported in three genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3. Therapeutic avenues are limited to surgery. Here we present clinical, neuroradiological and molecular findings in a cohort of familial and sporadic CCM patients. Thirty subjects underwent full clinical and radiological assessment. Molecular analysis was performed by direct sequencing and MLPA analysis. Twenty-eight of 30 subjects (93%) experienced one or more typical CCM disturbances with cerebral/spinal hemorrhage being the most common (43%) presenting symptom. A molecular diagnosis was achieved in 87% of cases, with three novel mutations identified. KRIT1/CCM1 patients displayed higher risk of de novo CCMs appearance and bleedings. Magnetic Resonance Imaging (MRI) showed that infratentorial region was more frequently affected in mutated subjects while brainstem was often spared in patients with negative genetic testing.


Subject(s)
Hemangioma, Cavernous, Central Nervous System , Apoptosis Regulatory Proteins/genetics , Carrier Proteins/genetics , Hemangioma, Cavernous, Central Nervous System/diagnostic imaging , Hemangioma, Cavernous, Central Nervous System/genetics , Humans , Membrane Proteins/genetics , Microtubule-Associated Proteins/genetics , Mutation/genetics , Proto-Oncogene Proteins/genetics
3.
Intern Emerg Med ; 16(5): 1247-1252, 2021 08.
Article in English | MEDLINE | ID: mdl-33565035

ABSTRACT

Since the end of February 2020, Italy has suffered one of the most severe outbreaks of coronavirus disease 2019 (COVID-19). However, what happened just before the Italian index case has not yet been investigated. To answer this question, we evaluated the potential impact of COVID-19 on the clinical features of a cohort of neurological inpatients admitted right before the Italian index case, as compared to the same period of the previous year. Demographic, clinical, treatment and laboratory data were extracted from medical records. The data collected included all inpatients who had been admitted to the Neurology and Stroke Units of the Ospedale Maggiore Policlinico, Milan, Italy, from December 15, 2018 to February 20, 2019 and from December 15, 2019 to February 20, 2020. Of the 248 patients, 97 subjects (39.1%) were admitted for an acute cerebrovascular event: 46 in the 2018/2019 period (mean [SD] age, 72.3 [15.6] years; 22 men [47.8%]), and 51 in the 2019/2020 interval (mean [SD] age, 72.8 [12.4] years; 24 men [47.1%]). The number of cryptogenic strokes has increased during the 2019-2020 year, as compared to the previous year (30 [58.8%] vs. 18 [39.1%], p = 0.05). These patients had a longer hospitalization (mean [SD] day, 15.7 [10.5] days vs. mean [SD] day, 11.7 [7.2] days, p = 0.03) and more frequent cerebrovascular complications (9 [30.0%] vs. 2 [11.1%]), but presented a lower incidence of cardiocerebral risk factors (18 [60.0%] vs. 14 [77.8%]). Right before the Italian index case, an increase in cryptogenic strokes has occurred, possibly due to the concomitant COVID-19.


Subject(s)
Ischemic Stroke/classification , Ischemic Stroke/complications , Aged , Aged, 80 and over , Analysis of Variance , COVID-19/complications , COVID-19/epidemiology , COVID-19/physiopathology , Chi-Square Distribution , Cohort Studies , Contact Tracing/methods , Contact Tracing/statistics & numerical data , Disease Progression , Female , Humans , Ischemic Stroke/epidemiology , Italy/epidemiology , Male , Middle Aged , Retrospective Studies , Risk Factors
4.
J Thromb Thrombolysis ; 51(1): 176-179, 2021 Jan.
Article in English | MEDLINE | ID: mdl-32458317

ABSTRACT

Pseudoxanthoma elasticum is a rare cause for ischaemic stroke. Little is known about acute and secondary prevention strategies in these subjects given the increased risk of gastrointestinal and urinary bleedings. Here we present the case of a 62 years old man affected by pseudoxanthoma elasticum who presented with acute ischaemic stroke and was successfully treated with intravenous thrombolysis. Neurological signs improved after intravenous thrombolysis without bleeding complication. To our knowledge, this is the first case of pseudoxanthoma elasticum-related stroke undergoing intravenous thrombolysis.


Subject(s)
Fibrinolytic Agents/therapeutic use , Pseudoxanthoma Elasticum/complications , Stroke/complications , Stroke/drug therapy , Tissue Plasminogen Activator/therapeutic use , Fibrinolytic Agents/administration & dosage , Humans , Male , Middle Aged , Thrombolytic Therapy , Tissue Plasminogen Activator/administration & dosage
5.
BMC Neurol ; 20(1): 316, 2020 Aug 26.
Article in English | MEDLINE | ID: mdl-32847536

ABSTRACT

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in endothelial homeostasis such as ENG (endoglin) and ACVRL1 (activin receptor-like kinase-1). CASE PRESENTATION: Here we describe a 22-year-old male presenting with a transient episode of slurred speech and left arm paresis. Brain MRI displayed polymicrogyria. A right-to-left shunt in absence of an atrial septum defect was noted. Chest CT revealed multiple pulmonary AVMs, likely causing paradoxical embolism manifesting as a transient ischemic attack. The heterozygous ENG variant, c.3G > A (p.Met1lle), was detected in the patient. This variant was also found in patient's mother and in his younger brother who displayed cortical dysplasia type 2. CONCLUSIONS: The detection of cortical development malformations in multiple subjects from the same pedigree may expand the phenotypic features of ENG-related HHT patients. We suggest considering HHT in young patients presenting with acute cerebral ischemic events of unknown origin.


Subject(s)
Endoglin/genetics , Malformations of Cortical Development/genetics , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Activin Receptors, Type II/genetics , Arteriovenous Fistula/diagnosis , Arteriovenous Malformations/genetics , Heterozygote , Humans , Male , Mutation , Pulmonary Artery/abnormalities , Pulmonary Veins/abnormalities , Telangiectasia, Hereditary Hemorrhagic/genetics , Tomography, X-Ray Computed , Young Adult
6.
Sci Rep ; 8(1): 476, 2018 01 11.
Article in English | MEDLINE | ID: mdl-29323198

ABSTRACT

This study investigated for the first time brain ischemic involvement in 19 consecutive neurologically asymptomatic PNH patients by non-enhanced cerebral MRI, and by intracranial arterial and venous angio-MRI. Eleven cases (58%, 7 aged <65) showed pathological findings: 9 white matter (WM) abnormalities related to chronic ischemic small vessel disease, 2 a focal abnormality >5 mm, and 5 cases a score >4 by the age-related white matter changes (ARWMC) scale. Compared with age and sex-matched controls (1:2 ratio), patients showed an increased frequency of periventricular WM vascular degeneration (32% versus 5.2%, p = 0.04) and of severe lesions (ARWMC scale score >4) (26% versus 2.6%, p = 0.05), and a higher overall ARWMC scale score (3.5 ± 1.07 versus 2.0 ± 0.8, mean ± SD, p < 0.0001). Notably, vascular abnormalities suspected for prior partial venous thrombosis, were observed in PNH cases only. MRI lesions were not related to blood counts, hemolytic markers, clone size, disease duration, and therapy with eculizumab. Neurological examination was unremarkable in all patients but one (Parkinson disease). Psychiatric assessment revealed a case of generalized anxiety disorder, 1 bipolar disorder type 2, and 1 adjustment disorder. In conclusion, brain MRI may be useful at diagnosis and during the course of the disease to explore subclinical neurological involvement.


Subject(s)
Brain/diagnostic imaging , Hemoglobinuria, Paroxysmal/diagnosis , Magnetic Resonance Imaging , Adolescent , Adult , Aged , Antibodies, Monoclonal, Humanized/therapeutic use , Asymptomatic Diseases , Female , Hemoglobinuria, Paroxysmal/complications , Hemoglobinuria, Paroxysmal/drug therapy , Hemoglobinuria, Paroxysmal/pathology , Humans , L-Lactate Dehydrogenase/metabolism , Male , Middle Aged , Nervous System Diseases/complications , Nervous System Diseases/diagnosis , Severity of Illness Index , Venous Thrombosis/pathology , White Matter/diagnostic imaging , White Matter/pathology , Young Adult
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