Cristina Tiu

Background and Aims: Existing patient‐reported outcome measures (PROMs) for Charcot–Marie‐Tooth disease (CMT) either lack disease specificity or do not assess patients' healthcare needs. We developed the Charcot–Marie‐Tooth Quality of Life and Needs questionnaire (CMT‐QoLN), a brief disease‐specific PROM designed to evaluate both quality of life and unmet healthcare needs in adults with CMT. Methods: The CMT‐QoLN comprises four domains: disease symptoms and impact (19 items), work‐related impact (7 items), family and social life (7 items), and disease‐related needs (7 items), with 38 of the items scored on 5‐point Likert scales. It was administered alongside the EQ‐5D‐5L and SF‐36 to CMT patients in Romania and France. Internal consistency, known‐groups validity, correlations with clinical variables, and group‐level convergence with generic instruments were evaluated. Results: Internal consistency was good to excellent for most domains (Cronbach's α 0.81–0.95), except for the healthcare‐needs domain in the French cohort ( α = 0.68). The CMT‐QoLN discriminated effectively between patients with different levels of disability, showing large effect sizes for assistance with activities of daily living and walking impairment. Healthcare‐needs scores differed significantly between Romania and France, suggesting sensitivity to differences in healthcare organization. Patterns of impairment were consistent with those obtained using the EQ‐5D‐5L and SF‐36. Interpretation: The CMT‐QoLN is a feasible disease‐specific PROM that captures both functional burden and unmet healthcare needs in adults with CMT. By integrating dimensions not addressed by existing instruments, it may complement generic quality‐of‐life measures in routine clinical practice and multinational observational studies. Further validation in larger cohorts is warranted.

BACKGROUND: Contrast-associated acute kidney injury (CA-AKI) after endovascular thrombectomy (EVT) worsens outcomes in acute ischemic stroke, but threshold-based definitions do not capture prognostic information from subthreshold changes. We tested whether early creatinine change within 48 hours of EVT conveys graded prognostic information beyond dichotomous CA-AKI. METHODS: We performed a secondary analysis of the CAN-REST registry (Contrast-Associated Nephropathy After Endovascular Stroke Treatment), a retrospective multicenter observational cohort study of 6638 EVT-treated adults with acute ischemic stroke enrolled at 73 centers in 16 countries between January 1 and December 31, 2023. Early creatinine change was quantified as the natural logarithm ratio of 48-hour creatinine to baseline creatinine (ln[48-hour/baseline creatinine]), with CA-AKI defined per Kidney Disease: Improving Global Outcomes criteria (≥0.3 mg/dL or ≥1.5× baseline rise within 48 hours). Multivariable logistic regression adjusted for prespecified baseline and periprocedural covariates examined associations with 90-day modified Rankin Scale shift and in-hospital mortality; linear versus restricted cubic spline specification was selected by likelihood ratio testing, and contrasts were estimated at ±10%, ±25%, and ±50%. RESULTS: Greater creatinine worsening within 48 hours of EVT was independently associated with an unfavorable 90-day modified Rankin Scale shift (adjusted common odds ratio per 1-unit log-ratio increase, 1.48 [95% CI, 1.07–2.04]; linear) and in-hospital mortality (nonlinear dose-response, of larger magnitude). A 10% increase in creatinine at 48 hours—well below Kidney Disease: Improving Global Outcomes threshold—was associated with worse functional outcome (adjusted common odds ratio, 1.04 [95% CI, 1.01–1.07]) and death (adjusted odds ratio, 1.22 [95% CI, 1.13–1.32]); a 10% decrease in creatinine at 48 hours was associated with lower odds of both outcomes (adjusted common odds ratio, 0.96 [95% CI, 0.93–0.99]; adjusted odds ratio, 0.74 [95% CI, 0.65–0.86]). The functional-outcome association concentrated at upper modified Rankin Scale cut-points (severe disability, death); effect modification by baseline renal function was not significant. CONCLUSIONS: Early creatinine change after EVT conveys graded, outcome-specific prognostic information extending below formal CA-AKI thresholds, with a dose-response detectable at changes as modest as ±10%, complementing binary CA-AKI as a framework for post-EVT renal risk assessment. REGISTRATION: URL: https://www.clinicaltrials.gov ; Unique identifier: NCT06596603.

Context : The internal carotid arteries are major sources of blood supply to the brain. Their dissection can be spontaneous, without a definite cause, or can occur as a result of trauma. One such trauma occurs when an elongated styloid process compresses or dissects the extracranial internal carotid artery, potentially leading to transient ischemic attacks or ischemic strokes. Case Presentation : We describe the clinical course of a 54-year-old patient in critical condition, who presented to the emergency department with a severe ischemic stroke following an internal carotid artery dissection secondary to an elongated styloid process. Conclusions : The therapeutic strategy should prioritize stabilizing the consequences of the dissection and preventing the recurrence of ischemic events, followed by rehabilitation.

Background. Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare, potentially life-threatening cause of sudden, generalized muscle weakness, precipitated by hypokalemia in the context of severe thyrotoxicosis. Case report. We report the clinical case of a young patient with abrupt-onset quadriplegia. Neurological examination revealed flaccid quadriplegia with preserved deep tendon reflexes. The patient reported a transient similar episode approximately 2 months earlier. He denied recent infections, trauma, or medication use. Brain and cervical spine CT were unremarkable. ECG detected sinus tachycardia with diffuse ST-segment depression. Laboratory evaluation revealed marked hypokalemia (K+ = 1.92 mmol/L) and severe hyperthyroidism (TSH = 0.000 µIU/mL, free T3 = 11.69 pg/mL). Prompt supplementation with potassium, antithyroid medication, and a beta-adrenergic blocker led to complete resolution of motor deficits, correction of electrolyte imbalance, and reversal of ECG abnormalities. Conclusions. Our case demonstrates THPP as a presenting manifestation of occult thyrotoxicosis and highlights the need to consider it in the differential diagnosis of sudden-onset muscle weakness.

Contrast-associated acute kidney injury (CA-AKI) is a potentially preventable complication after exposure to iodinated contrast media. In patients undergoing endovascular thrombectomy (EVT) for acute ischemic stroke (AIS), the incidence and clinical impact are poorly characterized, and no validated prediction tool is currently available. The aim of this study was to assess the incidence and prognostic significance of CA-AKI in EVT-treated patients with AIS and to develop and validate a predictive score. A retrospective, multicenter cohort study was conducted involving EVT-treated patients across 73 centers in 16 countries (January-December 2023). Inclusion criteria were age ≥18 years, absence of dialysis, availability of preprocedural and 48-hour postprocedural creatinine levels, and available 90-day follow-up (modified Rankin Scale [mRS] score). The primary outcome was CA-AKI, defined by KDIGO (Kidney Disease: Improving Global Outcomes criteria;creatinine increase ≥0.3 mg/dL or ≥1.5 times baseline, within 48 hours). Secondary outcomes were (1) in-hospital mortality, (2) 90-day mRS score, and (3) 90-day severe disability or death (mRS score >3). Logistic models assessing associations with outcomes accounted for within-center clustering by applying robust standard errors. CA-AKI prediction models were developed across imputed data sets using univariable selection (p < 0.20), backward elimination (p < 0.05), and coefficient-based scoring after categorization of continuous predictors, with internal validation by bootstrap to obtain optimism-adjusted estimates. Among 6,638 patients (median age 74 years; 48.7% male), CA-AKI occurred in 326 (4.9%) and was independently associated with in-hospital mortality (adjusted odds ratio [aOR] 2.269; 95% CI 1.615-3.190), higher 90-day mRS scores (adjusted common odds ratio 1.584; 95% CI 1.110-2.258), and 90-day severe disability or death (aOR 1.530; 95% CI 1.057-2.216). A preprocedural risk model including 12 routine clinical variables-sex, ethnicity, arterial hypertension, dyslipidemia, chronic kidney disease, antiplatelet therapy, NIH Stroke Scale score at admission, serum glucose, estimated glomerular filtration rate, hemoglobin, mean arterial pressure, and IV thrombolysis-demonstrated acceptable discrimination (area under the receiver operating characteristic curve 0.710 [95% CI 0.682-0.738]; precision-recall area under the curve 0.13 [95% CI 0.10-0.16]), good calibration (slope 0.870 [95% CI 0.759-0.928]), good overall performance (Brier score 0.045 [95% CI 0.042-0.049]). A second model that included EVT-related variables (e.g., contrast volume) showed similar performances. In this large, international cohort, CA-AKI occurred in approximately 1 in 20 EVT-treated patients with AIS and was independently associated with poor outcomes. A simple preprocedural risk score enables early identification of high-risk individuals and may support preventive strategies.

Background: The eye has shown potential as a reliable, readily accessible and clinically relevant site for investigating patients with multiple sclerosis (pwMS). Optical coherence tomography angiography (OCTA) shows promise in revealing new metabolic and vascular elements driving multiple sclerosis (MS) disease pathology. This study aimed to explore correlations between OCTA parameters and clinical characteristics in newly diagnosed relapsing–remitting MS (RRMS) patients. Methods: In this cross-sectional study, forty-one newly diagnosed RRMS patients underwent comprehensive evaluations, including neurological examinations, functional and cognitive tests (9-Hole Peg Test, Montreal Cognitive Assessment), and OCT/OCTA scans. Multiple regression analyses assessed correlations between OCT/OCTA parameters and baseline clinical characteristics. Results: Lower superficial capillary plexus (SCP) vessel density was associated with longer disease duration, higher EDSS scores (visual, pyramidal, cerebellar, ambulation), and impaired 9-Hole Peg Test performance, especially in the non-dominant hand. Higher values of choriocapillaris (CC) flow voids correlated with worse cognitive performance (MoCA). Structural OCT parameters showed limited clinical correlations. Conclusions: OCTA-derived parameters are associated with disability, fine motor function, and cognitive performance in newly diagnosed RRMS patients without prior ON. These findings suggest that retinal vascular alterations may reflect early neurodegenerative processes and provide complementary information beyond structural OCT metrics. OCTA may represent a sensitive, non-invasive imaging biomarker for patient assessment in early MS.

Disability accumulation in multiple sclerosis often occurs independent of relapses and inflammatory activity, yet reliable predictors for early progression remain limited. Our aim was to evaluate the utility of baseline fluid and optical coherence tomography (OCT) biomarkers for predicting early disability progression in newly diagnosed relapsing–remitting MS (RRMS). We performed a monocentric observational cohort study on 72 RRMS patients that were enrolled within 6 months of diagnosis and followed for 2 years. Baseline serum and cerebrospinal fluid (CSF) samples were analyzed for neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP) and chitinase-3-like protein 1 (CHI3L1). Confirmed disability progression at 1 year (1yCDP) was defined by either an increase in Expanded Disability Status Scale or a ≥20% worsening on Nine-Hole Peg Test or Timed 25-Foot Walk. Seventeen patients (23.6%) developed 1yCDP. Elevated baseline CSF GFAP (OR = 5.79, 95% CI 1.72–19.45; p = 0.005) and CSF CHI3L1 thickness (OR = 4.14, 95% CI 1.49–11.49; p = 0.006) and reduced ganglion cell-inner plexiform layer (GCIPL) thickness (OR = 0.90, 95% CI 0.84–0.97; p = 0.006) independently predicted 1yCDP. A multivariate model including age, CSF GFAP and GCIPL achieved AUC = 0.831, with a sensitivity of 87.5% and specificity of 61.5%. This study provides evidence that baseline patient profiling using CSF GFAP, CSF CHI3L1 and GCIPL thickness may help predict early disability progression in RRMS.

Introduction: Evidence regarding the benefit of endovascular therapy (EVT) in patients with acute ischemic stroke (AIS) due to isolated cervical internal carotid artery occlusion (c-ICA-O) is lacking. We assessed the outcomes and safety of EVT in patients with isolated c-ICA-O. Methods: Retrospective multicenter cohort study of patients with an AIS due to isolated c-ICA-O, within 24-h since last-seen-well. Comparisons were made between EVT and best medical therapy (BMT). The primary outcome was 3-months modified Rankin Scale (mRS) ordinal shift. Secondary outcomes included 3-month favorable outcome (mRS 0–2, or return to pre-stroke mRS), symptomatic intracranial hemorrhage (sICH) and any parenchymal hemorrhage. Outcomes were compared combining inverse probability of treatment weighting with regression models and propensity score matching (PSM) as sensitivity analysis. Results: We analyzed 998 patients (66.2% male, mean age 71.1 ± 13.2 years). 487 (48.8%) patients received EVT and 511 (51.2%) received BMT. Patients receiving EVT had a higher admission NIHSS [13 (7–18) vs 5 (2–13)] compared to BMT. There was no difference between EVT and BMT groups in 3-month mRS shift (adjusted common odds ratio [OR], 1.01 [95% CI 0.76–1.34]) and favorable outcome (adjusted OR [aOR] 1.16 [95% CI 0.84–1.60]). No patient (0%) in the BMT group had sICH versus 1.6% in the EVT group. Parenchymal hemorrhage was numerically higher in EVT patients (2.7% vs 0.6%; aOR 3.85 [95% CI 0.98–15.23]). PSM analysis revealed similar results. Discussion and conclusion: In patients with isolated c-ICA-O, EVT was associated with similar odds of disability and intracranial bleeding compared to BMT. Randomized-controlled clinical trials in patients with isolated c-ICA-O are warranted.

A multicenter molecular biomarker survey was conducted in Multiple Sclerosis (MS) centers across Central-Eastern European countries, encompassing a population of 107 million. Our aim was to provide a “snapshot” for future studies investigating the use of molecular biomarkers in MS. A self-report questionnaire was distributed via email to MS centers in seven Central-Eastern European countries (Croatia, Czech Republic, Poland, Romania, Serbia, Slovakia, and Slovenia) and to four reference centers (two in Austria, one in Germany, and one in Denmark), focusing on cerebrospinal fluid (CSF) analysis and molecular biomarkers in MS. Responding centers routinely request CSF oligoclonal band (OCB) testing in suspected MS cases, although no consensus exists on the number of CSF-restricted bands required to define OCB positivity, either within or between countries. More than half of the surveyed centers in the Czech Republic, Slovakia, Slovenia, and the reference centers request kappa free light chain (κFLC) testing in patients with suspected MS. Neurofilament light chain (NfL) is frequently used as a molecular biomarker for MS in Romania, Slovakia, and the reference centers. In summary, besides the use of CSF-specific OCB there is no consensus among the surveyed countries regarding the use of molecular biomarkers in MS.