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

Meessen, Jennifer M T A / Abete-Fornara, Giorgia / Zarino, Barbara / Castori, Marco / Tassi, Laura / Carriero, Maria R / D'Alessandris, Q G / Al-Shahi Salman, R / Blanda, Adriana / Nicolis, Enrico B / Novelli, Deborah / Caruana, Maria / Vasamì, Antonella / Lanfranconi, Silvia / Latini, Roberto

Frontiers in neurology

2024 Volume 15, Page(s) 1338941

Abstract: 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 ... ...

Abstract	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). Differences between treatment groups and the general population were assessed. Change over time by treatment was assessed by means of mixed models. Results: In total, 71 participants (48 propranolol and 23 standard care) were enrolled, of whom 61 (73%) completed questionnaires at baseline and 2-year FU. At baseline, no differences between treatment groups for any of the questionnaires were present. Twenty (31.7%) patients were considered depressed at baseline, while this proportion was lower in the propranolol group after 2 years (28.6% vs. 55.5%, Conclusion: Depression is common among patients with FCCM. Patients randomized to propranolol had a lower proportion of participants with depression after 2 years.
Language	English
Publishing date	2024-02-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2024.1338941
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Article ; Online: Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial.

Lanfranconi, Silvia / Scola, Elisa / Meessen, Jennifer M T A / Pallini, Roberto / Bertani, Giulio A / Al-Shahi Salman, Rustam / Dejana, Elisabetta / Latini, Roberto

The Lancet. Neurology

2022 Volume 22, Issue 1, Page(s) 35–44

Abstract: Background: Observations in people with cerebral cavernous malformations, and in preclinical models of this disorder, suggest that the β-blocker propranolol might reduce the risk of intracerebral haemorrhage. We aimed to evaluate the safety and efficacy ...

Abstract	Background: Observations in people with cerebral cavernous malformations, and in preclinical models of this disorder, suggest that the β-blocker propranolol might reduce the risk of intracerebral haemorrhage. We aimed to evaluate the safety and efficacy of prolonged treatment with propranolol to reduce the incidence of symptomatic intracerebral haemorrhage or focal neurological deficit in people with familial cerebral cavernous malformations. Methods: We conducted a randomised, open-label, blinded-endpoint, phase 2 pilot trial (Treat_CCM) at six national reference centres for rare diseases in Italy. People aged 18 years or older with symptomatic familial cerebral cavernous malformation were eligible for enrolment. Participants were randomly assigned (2:1) to receive either oral propranolol (20-320 mg daily) plus standard care (intervention group), or standard care alone (control group), for 24 months. Participants, caregivers, and investigators were aware of treatment group assignment. Participants had clinical assessments and 3 T brain MRI at baseline and at 12 and 24 months. The primary outcome was new occurrence of symptomatic intracerebral haemorrhage or focal neurological deficit attributable to cerebral cavernous malformation over 24 months. Outcome assessors were masked to treatment group assignment. The primary analysis was done in the intention-to-treat population. Because of the pilot study design, we chose a one-sided 80% CI, which could either exclude a clinically meaningful effect or show a signal of efficacy. This trial is registered with EudraCT, 2017-003595-30, and ClinicalTrials.gov, NCT03589014, and is closed to recruitment. Findings: Between April 11, 2018, and Dec 5, 2019, 95 people were assessed for eligibility and 83 were enrolled, of whom 57 were assigned to the propranolol plus standard care group and 26 to the standard care alone group. The mean age of participants was 46 years (SD 15); 48 (58%) were female and 35 (42%) were male. The incidence of symptomatic intracerebral haemorrhage or focal neurological deficit was 1·7 (95% CI 1·4-2·0) cases per 100 person-years (two [4%] of 57 participants) in the propranolol plus standard care group and 3·9 (3·1-4·7) per 100 person-years (two [8%] of 26) in the standard care alone group (univariable hazard ratio [HR] 0·43, 80% CI 0·18-0·98). The univariable HR showed a signal of efficacy, according to predefined criteria. The incidence of hospitalisation did not differ between groups (8·2 cases [95% CI 7·5-8·9] per 100 person-years in the propranolol plus standard care group vs 8·2 [95% CI 7·1-9·3] per 100 person-years in the standard care alone group). One participant in the standard care alone group died of sepsis. Three participants in the propranolol plus standard care group discontinued propranolol due to side-effects (two reported hypotension and one reported weakness). Interpretation: Propranolol was safe and well tolerated in this population. Propranolol might be beneficial for reducing the incidence of clinical events in people with symptomatic familial cerebral cavernous malformations, although this trial was not designed to be adequately powered to investigate efficacy. A definitive phase 3 trial of propranolol in people with symptomatic familial cerebral cavernous malformations is justified. Funding: Italian Medicines Agency, Associazione Italiana per la Ricerca sul Cancro, Swedish Science Council, Knut and Alice Wallenberg Foundation, CARIPLO Foundation, Italian Ministry of Health.
MeSH term(s)	Humans ; Male ; Female ; Middle Aged ; Hemangioma, Cavernous, Central Nervous System/diagnostic imaging ; Hemangioma, Cavernous, Central Nervous System/drug therapy ; Propranolol/pharmacology ; Propranolol/therapeutic use ; Pilot Projects ; Treatment Outcome ; Cerebral Hemorrhage/chemically induced ; Cerebral Hemorrhage/epidemiology ; Cerebral Hemorrhage/drug therapy
Chemical Substances	Propranolol (9Y8NXQ24VQ)
Language	English
Publishing date	2022-11-17
Publishing country	England
Document type	Randomized Controlled Trial ; Clinical Trial, Phase II ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2081241-3
ISSN	1474-4465 ; 1474-4422
ISSN (online)	1474-4465
ISSN	1474-4422
DOI	10.1016/S1474-4422(22)00409-4
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Article ; Online: Safety and efficacy of rt-PA treatment for acute stroke in pseudoxanthoma elasticum: the first report.

Lanfranconi, Silvia / Ghione, Isabella / Valcamonica, Gloria / Corti, Stefania Paola / Bonato, Sara / Bresolin, Nereo

Journal of thrombosis and thrombolysis

2020 Volume 51, Issue 1, Page(s) 176–179

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 ... ...

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.
MeSH term(s)	Fibrinolytic Agents/administration & dosage ; Fibrinolytic Agents/therapeutic use ; Humans ; Male ; Middle Aged ; Pseudoxanthoma Elasticum/complications ; Stroke/complications ; Stroke/drug therapy ; Thrombolytic Therapy ; Tissue Plasminogen Activator/administration & dosage ; Tissue Plasminogen Activator/therapeutic use
Chemical Substances	Fibrinolytic Agents ; Tissue Plasminogen Activator (EC 3.4.21.68)
Language	English
Publishing date	2020-05-26
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	1230645-9
ISSN	1573-742X ; 0929-5305
ISSN (online)	1573-742X
ISSN	0929-5305
DOI	10.1007/s11239-020-02150-3
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Article ; Online: Stroke subtyping for genetic association studies? A comparison of the CCS and TOAST classifications.

Lanfranconi, Silvia / Markus, Hugh S

International journal of stroke : official journal of the International Stroke Society

2013 Volume 8, Issue 8, Page(s) 626–631

Abstract: Background: A reliable and reproducible classification system of stroke subtype is essential for epidemiological and genetic studies. The Causative Classification of Stroke system is an evidence-based computerized algorithm with excellent inter-rater ... ...

Abstract	Background: A reliable and reproducible classification system of stroke subtype is essential for epidemiological and genetic studies. The Causative Classification of Stroke system is an evidence-based computerized algorithm with excellent inter-rater reliability. It has been suggested that, compared to the Trial of ORG 10172 in Acute Stroke Treatment classification, it increases the proportion of cases with defined subtype that may increase power in genetic association studies. We compared Trial of ORG 10172 in Acute Stroke Treatment and Causative Classification of Stroke system classifications in a large cohort of well-phenotyped stroke patients. Methods: Six hundred ninety consecutively recruited patients with first-ever ischemic stroke were classified, using review of clinical data and original imaging, according to the Trial of ORG 10172 in Acute Stroke Treatment and Causative Classification of Stroke system classifications. Results: There was excellent agreement subtype assigned by between Trial of ORG 10172 in Acute Stroke Treatment and Causative Classification of Stroke system (kappa = 0·85). The agreement was excellent for the major individual subtypes: large artery atherosclerosis kappa = 0·888, small-artery occlusion kappa = 0·869, cardiac embolism kappa = 0·89, and undetermined category kappa = 0·884. There was only moderate agreement (kappa = 0·41) for the subjects with at least two competing underlying mechanism. Thirty-five (5·8%) patients classified as undetermined by Trial of ORG 10172 in Acute Stroke Treatment were assigned to a definite subtype by Causative Classification of Stroke system. Thirty-two subjects assigned to a definite subtype by Trial of ORG 10172 in Acute Stroke Treatment were classified as undetermined by Causative Classification of Stroke system. Conclusions: There is excellent agreement between classification using Trial of ORG 10172 in Acute Stroke Treatment and Causative Classification of Stroke systems but no evidence that Causative Classification of Stroke system reduced the proportion of patients classified to undetermined subtypes. The excellent inter-rater reproducibility and web-based semiautomated nature make Causative Classification of Stroke system suitable for multicenter studies, but the benefit of reclassifying cases already classified using the Trial of ORG 10172 in Acute Stroke Treatment system on existing databases is likely to be small.
MeSH term(s)	Aged ; Algorithms ; Female ; Genetic Association Studies ; Humans ; Male ; Middle Aged ; Reproducibility of Results ; Stroke/classification ; Stroke/genetics
Language	English
Publishing date	2013-12
Publishing country	United States
Document type	Comparative Study ; Journal Article
ZDB-ID	2303728-3
ISSN	1747-4949 ; 1747-4930
ISSN (online)	1747-4949
ISSN	1747-4930
DOI	10.1111/j.1747-4949.2012.00780.x
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Article ; Online: Circulating biomarkers in familial cerebral cavernous malformationResearch in context

Francesca Lazzaroni / Jennifer M.T.A. Meessen / Ying Sun / Silvia Lanfranconi / Elisa Scola / Quintino Giorgio D'Alessandris / Laura Tassi / Maria Rita Carriero / Marco Castori / Silvia Marino / Adriana Blanda / Enrico B. Nicolis / Deborah Novelli / Roberta Calabrese / Nicolò M. Agnelli / Barbara Bottazzi / Roberto Leone / Selene Mazzola / Silvia Besana /

Carlotta Catozzi / Luigi Nezi / Maria G. Lampugnani / Matteo Malinverno / Nastasja Grdseloff / Claudia J. Rödel / Behnam Rezai Jahromi / Niccolò Bolli / Francesco Passamonti / Peetra U. Magnusson / Salim Abdelilah-Seyfried / Elisabetta Dejana / Roberto Latini

EBioMedicine, Vol 99, Iss , Pp 104914- (2024)

1481

Abstract: Summary: 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 ...

Abstract	Summary: 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. Methods: Here, we have investigated plasma samples derived from n = 71 symptomatic fCCM patients (40 female/31 male) and n = 17 healthy donors (HD) (9 female/8 male) of the Phase 1/2 Treat_CCM trial, using multiplexed protein profiling approaches. Findings: Biomarkers as sCD14 (p = 0.00409), LBP (p = 0.02911), CXCL4 (p = 0.038), ICAM-1 (p = 0.02013), ANG2 (p = 0.026), CCL5 (p = 0.00403), THBS1 (p = 0.0043), CRP (p = 0.0092), and HDL (p = 0.027), were significantly different in fCCM compared to HDs. Of note, sENG (p = 0.011), THBS1 (p = 0.011) and CXCL4 (p = 0.011), were correlated to CCM genotype. sROBO4 (p = 0.014), TM (p = 0.026) and CRP (p = 0.040) were able to predict incident adverse clinical events, such as ICH, FND or seizure. GDF-15, FLT3L, CXCL9, FGF-21 and CDCP1, were identified as predictors of the formation of new MRI-detectable lesions over 2-year follow-up. Furthermore, the functional relevance of ang2, thbs1, robo4 and cdcp1 markers was validated by zebrafish pre-clinical model of fCCM. Interpretation: Overall, our study identifies a set of biochemical parameters to predict CCM progression, suggesting biological interpretations and potential therapeutic approaches to CCM disease. Funding: Italian Medicines Agency, Associazione Italiana per la Ricerca sul Cancro (AIRC), ERC, Leducq Transatlantic Network of Excellence, Swedish Research Council.
Keywords	Familial cerebral cavernous malformation ; Vascular biology ; Biomarkers ; Proteomics ; Medicine ; R ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2024-01-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
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Article ; Online: Intravenous thrombolysis + endovascular thrombectomy versus thrombolysis alone in large vessel occlusion mild stroke: a propensity score matched analysis.

Schwarz, Ghil / Bonato, Sara / Lanfranconi, Silvia / Matusevicius, Marius / Ghione, Isabella / Valcamonica, Gloria / Tsivgoulis, Georgios / Paiva Nunes, Ana / Mancuso, Michelangelo / Zini, Andrea / Candelaresi, Paolo / Rand, Viiu-Marika / Comi, Giacomo P / Mazya, Michael V / Ahmed, Niaz

European journal of neurology

2023 Volume 30, Issue 5, Page(s) 1312–1319

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 ... ...

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.
MeSH term(s)	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
Chemical Substances	Fibrinolytic Agents
Language	English
Publishing date	2023-02-24
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1280785-0
ISSN	1468-1331 ; 1351-5101 ; 1471-0552
ISSN (online)	1468-1331
ISSN	1351-5101 ; 1471-0552
DOI	10.1111/ene.15722
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Zs.A 4738: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Magnetic susceptibility as a 1-year predictor of outcome in familial cerebral cavernous malformations: a pilot study.

Incerti, Irene / Fusco, Massimo / Contarino, Valeria Elisa / Siggillino, Silvia / Conte, Giorgio / Lanfranconi, Silvia / Bertani, Giulio Andrea / Gaudino, Chiara / d'Orio, Piergiorgio / Pallini, Roberto / D'Alessandris, Quintino Giorgio / Meessen, Jennifer Marie Theresia Anna / Nicolis, Enrico Bjorn / Vasamì, Antonella / Dejana, Elisabetta / Bianchi, Anna Maria / Triulzi, Fabio Maria / Latini, Roberto / Scola, Elisa

European radiology

2023 Volume 33, Issue 6, Page(s) 4158–4166

Abstract: Objectives: To test whether quantitative susceptibility mapping (QSM) of cerebral cavernous malformations (CCMs) assessed at baseline may predict the presence or absence of haemorrhagic signs at 1-year follow-up.: Methods: Familial CCM patients were ... ...

Abstract	Objectives: To test whether quantitative susceptibility mapping (QSM) of cerebral cavernous malformations (CCMs) assessed at baseline may predict the presence or absence of haemorrhagic signs at 1-year follow-up. Methods: Familial CCM patients were enrolled in the longitudinal multicentre study Treat-CCM. The 3-T MRI scan allowed performing a semi-automatic segmentation of CCMs and computing the maximum susceptibility in each segmented CCM (QSMmax) at baseline. CCMs were classified as haemorrhagic and non-haemorrhagic at baseline and then subclassified according to the 1-year (t1) evolution. Between-group differences were tested, and the diagnostic accuracy of QSMmax in predicting the presence or absence of haemorrhagic signs in CCMs was calculated with ROC analyses. Results: Thirty-three patients were included in the analysis, and a total of 1126 CCMs were segmented. QSMmax was higher in haemorrhagic CCMs than in non-haemorrhagic CCMs (p < 0.001). In haemorrhagic CCMs at baseline, the accuracy of QSMmax in differentiating CCMs that were still haemorrhagic from CCMs that recovered from haemorrhage at t1 calculated as area under the curve (AUC) was 0.78 with sensitivity 62.69%, specificity 82.35%, positive predictive value (PPV) 93.3% and negative predictive value (NPV) 35.9% (QSMmax cut-off ≥ 1462.95 ppb). In non-haemorrhagic CCMs at baseline, AUC was 0.91 in differentiating CCMs that bled at t1 from stable CCMs with sensitivity 100%, specificity 81.9%, PPV 5.1%, and NPV 100% (QSMmax cut-off ≥ 776.29 ppb). Conclusions: The QSMmax in CCMs at baseline showed high accuracy in predicting the presence or absence of haemorrhagic signs at 1-year follow-up. Further effort is required to test the role of QSM in follow-up assessment and therapeutic trials in multicentre CCM studies. Key points: • QSM in semi-automatically segmented CCM was feasible. • The maximum magnetic susceptibility in a single CCM at baseline may predict the presence or absence of haemorrhagic signs at 1-year follow-up. • Multicentric studies are needed to enforce the role of QSM in predicting the CCMs' haemorrhagic evolution in patients affected by familial and sporadic forms.
MeSH term(s)	Humans ; Hemangioma, Cavernous, Central Nervous System/diagnostic imaging ; Pilot Projects ; Magnetic Resonance Imaging
Language	English
Publishing date	2023-01-05
Publishing country	Germany
Document type	Multicenter Study ; Journal Article
ZDB-ID	1085366-2
ISSN	1432-1084 ; 0938-7994 ; 1613-3749
ISSN (online)	1432-1084
ISSN	0938-7994 ; 1613-3749
DOI	10.1007/s00330-022-09366-2
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Article ; Online: Circulating biomarkers in familial cerebral cavernous malformation.

Lazzaroni, Francesca / Meessen, Jennifer M T A / Sun, Ying / Lanfranconi, Silvia / Scola, Elisa / D'Alessandris, Quintino Giorgio / Tassi, Laura / Carriero, Maria Rita / Castori, Marco / Marino, Silvia / Blanda, Adriana / Nicolis, Enrico B / Novelli, Deborah / Calabrese, Roberta / Agnelli, Nicolò M / Bottazzi, Barbara / Leone, Roberto / Mazzola, Selene / Besana, Silvia /

Catozzi, Carlotta / Nezi, Luigi / Lampugnani, Maria G / Malinverno, Matteo / Grdseloff, Nastasja / Rödel, Claudia J / Rezai Jahromi, Behnam / Bolli, Niccolò / Passamonti, Francesco / Magnusson, Peetra U / Abdelilah-Seyfried, Salim / Dejana, Elisabetta / Latini, Roberto

EBioMedicine

2023 Volume 99, Page(s) 104914

Abstract: 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). ... ...

Abstract	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. Methods: Here, we have investigated plasma samples derived from n = 71 symptomatic fCCM patients (40 female/31 male) and n = 17 healthy donors (HD) (9 female/8 male) of the Phase 1/2 Treat_CCM trial, using multiplexed protein profiling approaches. Findings: Biomarkers as sCD14 (p = 0.00409), LBP (p = 0.02911), CXCL4 (p = 0.038), ICAM-1 (p = 0.02013), ANG2 (p = 0.026), CCL5 (p = 0.00403), THBS1 (p = 0.0043), CRP (p = 0.0092), and HDL (p = 0.027), were significantly different in fCCM compared to HDs. Of note, sENG (p = 0.011), THBS1 (p = 0.011) and CXCL4 (p = 0.011), were correlated to CCM genotype. sROBO4 (p = 0.014), TM (p = 0.026) and CRP (p = 0.040) were able to predict incident adverse clinical events, such as ICH, FND or seizure. GDF-15, FLT3L, CXCL9, FGF-21 and CDCP1, were identified as predictors of the formation of new MRI-detectable lesions over 2-year follow-up. Furthermore, the functional relevance of ang2, thbs1, robo4 and cdcp1 markers was validated by zebrafish pre-clinical model of fCCM. Interpretation: Overall, our study identifies a set of biochemical parameters to predict CCM progression, suggesting biological interpretations and potential therapeutic approaches to CCM disease. Funding: Italian Medicines Agency, Associazione Italiana per la Ricerca sul Cancro (AIRC), ERC, Leducq Transatlantic Network of Excellence, Swedish Research Council.
MeSH term(s)	Animals ; Humans ; Male ; Female ; Hemangioma, Cavernous, Central Nervous System/etiology ; Hemangioma, Cavernous, Central Nervous System/genetics ; Proto-Oncogene Proteins/genetics ; Microtubule-Associated Proteins/genetics ; Zebrafish/metabolism ; Biomarkers ; Seizures ; Antigens, Neoplasm ; Cell Adhesion Molecules
Chemical Substances	Proto-Oncogene Proteins ; Microtubule-Associated Proteins ; Biomarkers ; CDCP1 protein, human ; Antigens, Neoplasm ; Cell Adhesion Molecules
Language	English
Publishing date	2023-12-18
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2851331-9
ISSN	2352-3964
ISSN (online)	2352-3964
DOI	10.1016/j.ebiom.2023.104914
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Article ; Online: A Rare Cause of Juvenile Stroke: Extracranial Carotid Artery Aneurysm with Venous Complete Reconstruction of the Carotid Bifurcation.

Domanin, Maurizio / Lanfranconi, Silvia / Romagnoli, Silvia / Runza, Letterio / Cortini, Francesca / Comi, Giacomo Piero / Gabrielli, Livio

Pediatric neurosurgery

2018 Volume 53, Issue 4, Page(s) 275–279

Abstract: Extracranial carotid artery aneurysms (ECAA) are a rare cause of embolic stroke. The underlying etiology is variable, with atherosclerosis being the most common entity in older subjects. Several treatments have been developed over the last 20 years, but ... ...

Abstract	Extracranial carotid artery aneurysms (ECAA) are a rare cause of embolic stroke. The underlying etiology is variable, with atherosclerosis being the most common entity in older subjects. Several treatments have been developed over the last 20 years, but the preferred method remains unknown. Notwithstanding the widespread use of endovascular techniques, surgical reconstruction by means of a bifurcated venous bypass graft should be applied in younger patients. In this way, it is possible to avoid major concerns about the development of long-term intrastent restenosis, and also to spare the external carotid artery which represents the main branch for the ipsilateral cerebral and facial perfusion. We propose ECAA resection and interposition of the inverted great saphenous vein to both the internal and external carotid artery by means the use of a tributary, i.e., the Giacomini vein.
MeSH term(s)	Adolescent ; Aneurysm/diagnostic imaging ; Aneurysm/surgery ; Angiography ; Carotid Artery Diseases/diagnostic imaging ; Carotid Artery Diseases/pathology ; Carotid Artery Diseases/surgery ; Carotid Artery, External/pathology ; Humans ; Male ; Middle Cerebral Artery ; Reconstructive Surgical Procedures/methods ; Saphenous Vein/transplantation ; Seizures/etiology ; Stroke/etiology ; Treatment Outcome ; Vascular Surgical Procedures/methods
Language	English
Publishing date	2018-04-25
Publishing country	Switzerland
Document type	Case Reports ; Journal Article
ZDB-ID	1091757-3
ISSN	1423-0305 ; 1016-2291
ISSN (online)	1423-0305
ISSN	1016-2291
DOI	10.1159/000487089
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Article ; Online: Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations.

Lanfranconi, Silvia / Piergallini, Lorenzo / Ronchi, Dario / Valcamonica, Gloria / Conte, Giorgio / Marazzi, Elena / Manenti, Giulia / Bertani, Giulio Andrea / Locatelli, Marco / Triulzi, Fabio / Bresolin, Nereo / Scola, Elisa / Comi, Giacomo Pietro

Metabolic brain disease

2021 Volume 36, Issue 7, Page(s) 1871–1878

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, ... ...

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.
MeSH term(s)	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
Chemical Substances	Apoptosis Regulatory Proteins ; Carrier Proteins ; Membrane Proteins ; Microtubule-Associated Proteins ; Proto-Oncogene Proteins
Language	English
Publishing date	2021-08-06
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	632824-6
ISSN	1573-7365 ; 0885-7490
ISSN (online)	1573-7365
ISSN	0885-7490
DOI	10.1007/s11011-021-00809-1
Database	MEDical Literature Analysis and Retrieval System OnLINE

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