Patient-reported outcome measures in patients with familial cerebral cavernous malformations: results from the Treat_CCM trial.

Background: The Phase 1/2 Treat_CCM randomized controlled trial for people with familial cerebral cavernous malformations (FCCMs) confirmed the safety of propranolol and suggested beneficial effects on intracerebral hemorrhage or new focal neurological deficits, but the effects on patient-reported outcome measures have not been reported.

Methods: Participants completed self-reported questionnaires at baseline, 1 and 2 years. Depression was assessed with the Beck Depression Inventory-II (BDI-2); Anxiety with the State-Trait Anxiety Inventory X1 and X2 (STAI X-1 and STAI X-2); and Quality of Life with the Short Form 36 (SF-36), split into the physical and mental component scales (PCS and MCS).

Circulating biomarkers in familial cerebral cavernous malformation.

Background: Cerebral Cavernous Malformation (CCM) is a rare cerebrovascular disease, characterized by the presence of multiple vascular malformations that may result in intracerebral hemorrhages (ICHs), seizure(s), or focal neurological deficits (FND). Familial CCM (fCCM) is due to loss of function mutations in one of the three independent genes KRIT1 (CCM1), Malcavernin (CCM2), or Programmed Cell death 10 (PDCD10/CCM3). The aim of this study was to identify plasma protein biomarkers of fCCM to assess the severity of the disease and predict its progression.

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.

Background: Cerebral cavernous malformations (CCMs) are vascular malformations characterized by clusters of enlarged leaky capillaries in the central nervous system. They may result in intracranial haemorrhage, epileptic seizure(s), or focal neurological deficits, and potentially lead to severe disability. Globally, CCMs represent the second most common intracranial vascular malformation in humans, and their familial form (FCCMs) accounts for one-fifth of cases.

Dialogues and Tensions in the Eating Habits of Syrian Refugees Living in São Paulo, Brazil.

This study investigates the processes of acculturation, interculturality and interactions in the eating habits of Syrian refugees who had a Syrian food venue in the city of São Paulo, Brazil. We conducted a qualitative study, with an ethnographical design, with ten participants, using semi-structured interviews and participant and non-participant observation. There were changes in the preparation of consumed and served food products.

Cerebrovascular reactivity by quantitative magnetic resonance angiography with a Co₂ challenge. Validation as a new imaging biomarker.

Assessment of cerebrovascular reactivity (CVR) is essential in cerebrovascular diseases, as exhausted CVR may enhance the risk of cerebral ischemic events. Transcranial Doppler (TCD) with a vasodilatory stimulus is currently used for CVR evaluation. Scanty data are available for Quantitative Magnetic Resonance Angiography (QMRA), which supplies higher spatial resolution and quantitative cerebral blood flow values.

Residual shunt after patent foramen ovale closure: preliminary results from Italian patent foramen ovale survey.

Background: Percutaneous patent foramen ovale (PFO) closure is accepted as treatment for cryptogenic ischemic stroke/transient ischemic attack in young subjects. However, a thorough evaluation of residual right-to-left shunt (rRLS) after PFO closure is needed. Our aims were to analyze the characteristics related to PFO diagnosis and closure, focusing on rRLS and clinical recurrences until 24-month follow-up.

Microembolic air load during contrast-transcranial Doppler: a trigger for migraine with aura?

Background: There is a well-known association between migraine with aura (MA) and right-to-left shunt (RILES) because of patent foramen ovale (PFO). The occurrence of MA attacks after microbubble (MB) injection during contrast-enhanced transcranial Doppler (ce-TCD) has been recently described.

Objectives: The aim of this study was to analyze the prevalence of RILES in a consecutive cohort of MA patients and to characterize the occurrence of MA attacks after diagnostic ce-TCD.

Transcranial Doppler and transesophageal echocardiography: comparison of both techniques and prospective clinical relevance of transcranial Doppler in patent foramen ovale detection.

Background: Patent foramen ovale (PFO) has been investigated in several conditions apart from cryptogenic ischemic stroke. Contrast transesophageal echocardiography (cTEE) is the gold standard for the diagnosis, although it has some known limitations. Contrast transcranial Doppler (cTCD) allows a semiquantitative estimation of right-to-left shunt (RLS) volume.

Caliber fluctuations of cervical internal carotid artery and migraine with aura: a possible vasospasm detected by ultrasonographic examinations.

Caliber fluctuations of extra- and intracranial arteries, mostly related to vasospasm, are often recognized in various neurological conditions. We report a case of a 33-year-old woman affected by migraine with and without aura who exhibited a possible cervical internal carotid artery vasospasm, detected by ultrasound, before a typical migraine aura.

Aspirin resistance determined with PFA-100 does not predict new thrombotic events in patients with stable ischemic cerebrovascular disease.

Objective: Evidence is growing that some patients are not responsive to the antithrombotic action of aspirin. We prospectively evaluated the ability of aspirin resistance status, determined by PFA-100, to predict new thrombotic events in patients with stable ischemic cerebrovascular disease.

Methods: We studied 129 consecutive patients with stroke, transient ischemic attack (TIA) or vascular cognitive impairment.

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary acidic protein (GFAP) gene as the causative gene, cases of adult-onset AD (AOAD) are being described with increasing frequency. AOAD has a different clinical and neuroradiological presentation with respect to early-onset AD, as abnormalities are mainly concentrated in the brainstem-spinal cord junction.

Postural dependency of right to left shunt: role of contrast-enhanced transcranial Doppler and its potential clinical implications.

Background And Purpose: Right to left shunt is involved in conditions in which postural changes may be pathogenically relevant. The aim of this work was to assess the frequency of posturally dependent right to left shunt.

Methods: In 109 consecutive right to left shunt-positive subjects (male/female=40/69, age 43+/-12 years), we assessed with contrast-enhanced transcranial Doppler the bubble load during normal breathing and after the Valsalva maneuver in both standing and recumbent position randomizing the order of testing.

An effect of the PAI-1 4G/5G polymorphism on cholesterol levels may explain conflicting associations with myocardial infarction and stroke.

Background And Purpose: The gene-encoding plasminogen activator inhibitor type 1 (PAI-1) has a common 4G/5G 'functional' polymorphism, and people homozygous for the 4G allele have higher PAI-1 plasma concentrations. The 4G/4G genotype is associated with increased risk of myocardial infarction but paradoxically protects against stroke. We hypothesized that this paradox may be explained via an effect of the PAI-1 polymorphism on plasma lipids.

Wallerian degeneration of the pontocerebellar fibers.

Two cases of pontine infarct with Wallerian degeneration (WD) of the pontocerebellar fibers are described. WD of pontocerebellar fibers, seen bilaterally along the transverse pontine fibers, is more visible in the middle cerebellar peduncles and extends into the white matter of the cerebellar hemispheres. Understanding the anatomy of the white matter and the temporal evolution of this degeneration is essential in identifying WD.