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Background: Fabry disease (FD) is a treatable X-linked lysosomal storage disorder caused by GLA gene variants leading to alpha-galactosidase A deficiency. FD is a rare cause of stroke, and it is still controversial whether in stroke patients FD should be searched from the beginning or at the end of the diagnostic workup (in cryptogenic strokes)., Methods: Fabry-Stroke Italian Registry is a prospective, multicentric screening involving 33 stroke units. FD was sought by measuring α-galactosidase A activity (males) and by genetic tests (males with reduced enzyme activity and females) in patients aged 18-60 years hospitalized for TIA, ischemic stroke, or intracerebral hemorrhage. We diagnosed FD in patients with 1) already known pathogenic GLA variants; 2) novel GLA variants if additional clinical, laboratory, or family-derived criteria were present., Results: Out of 1906 patients, we found a GLA variant in 15 (0.79%; 95%CI 0.44-1.29) with a certain FD diagnosis in 3 (0.16%; 95%CI 0.03-0.46) patients, none of whom had hemorrhage. We identified 1 novel pathogenic GLA variant. Ischemic stroke etiologies in carriers of GLA variants were: cardioaortic embolism (33%), small artery occlusion (27%), other causes (20%), and undetermined (20%). Mild severity, recurrence, previous TIA, acroparesthesias, hearing loss, and small artery occlusion were predictors of GLA variant., Conclusion: In this large multicenter cohort the frequency of FD and GLA variants was consistent with previous reports. Limiting the screening for GLA variants to patients with cryptogenic stroke may miss up to 80% of diagnoses. Some easily recognizable clinical features could help select patients for FD screening., Competing Interests: Declaration of competing interest IR received travel grants and speaker's honoraria from Takeda, Sanofi, and Amicus; PN received speaker's honoraria from Takeda, Sanofi, and Amicus; MZ received fees as consultant and advisory board member from Takeda, Sanofi, and Amicus; SS received personal fees as speaker or advisor (Abbott, Allergan-Abbvie, AstraZeneca, Eli Lilly, Lundbeck, Novartis, NovoNordisk, Pfizer, Teva), research grants (Allergan, Novartis, Uriach), and fees for CME/education (Medscape, Neurodiem Ology Medical Education); UA received speaker's fees and honoraria from EISAI; AM received speaker's honoraria and travel grants from Takeda, Sanofi, and Amicus; DI received speaker's honoraria from Takeda. Other authors declared that they have no competing interests for FSIR study., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Background: TIA and stroke, both ischemic and hemorrhagic, may complicate Fabry disease at young-adult age and be the first manifestation that comes to the clinician's attention. No definite indications have yet been elaborated to guide neurologists in Fabry disease diagnostics. In current practice, it is usually sought in case of cryptogenic strokes (while Fabry-related strokes can also occur by classical pathogenic mechanisms) or through screening programs in young cerebrovascular populations. Data on recurrence and secondary prevention of Fabry's stroke are scanty., Methods: The study had a prospective observational design involving 33 Italian neurological Stroke Units. Considering the incidence of TIA/stroke in the European population aged < 60 years and the frequency of Fabry disease in this category (as foreseen by a pilot study held at the Careggi University-Hospital, Florence), we planned to screen for Fabry disease a total of 1740 < 60-year-old individuals hospitalized for TIA, ischemic, or hemorrhagic stroke. We investigated TIA and stroke pathogenesis through internationally validated scales and we gathered information on possible early signs of Fabry disease among all cerebrovascular patients. Every patient was tested for Fabry disease through dried blood spot analysis. Patients who received Fabry disease diagnosis underwent a 12-month follow-up to monitor stroke recurrence and multi-system progression after the cerebrovascular event., Discussion: The potential implications of this study are as follows: (i) to add information about the yield of systematic screening for Fabry disease in a prospective large cohort of acute cerebrovascular patients; (ii) to deepen knowledge of clinical, pathophysiological, and prognostic characteristics of Fabry-related stroke., (© 2021. The Author(s).)

Background and Purpose: Observational studies have suggested a link between fibromuscular dysplasia and spontaneous cervical artery dissection (sCeAD). However, whether patients with coexistence of the two conditions have distinctive clinical characteristics has not been extensively investigated., Methods: In a cohort of consecutive patients with first-ever sCeAD, enrolled in the setting of the multicenter IPSYS CeAD study (Italian Project on Stroke in Young Adults Cervical Artery Dissection) between January 2000 and June 2019, we compared demographic and clinical characteristics, risk factor profile, vascular pathology, and midterm outcome of patients with coexistent cerebrovascular fibromuscular dysplasia (cFMD; cFMD+) with those of patients without cFMD (cFMD-)., Results: A total of 1283 sCeAD patients (mean age, 47.8±11.4 years; women, 545 [42.5%]) qualified for the analysis, of whom 103 (8.0%) were diagnosed with cFMD+. In multivariable analysis, history of migraine (odds ratio, 1.78 [95% CI, 1.13-2.79]), the presence of intracranial aneurysms (odds ratio, 8.71 [95% CI, 4.06-18.68]), and the occurrence of minor traumas before the event (odds ratio, 0.48 [95% CI, 0.26-0.89]) were associated with cFMD. After a median follow-up of 34.0 months (25th to 75th percentile, 60.0), 39 (3.3%) patients had recurrent sCeAD events. cFMD+ and history of migraine predicted independently the risk of recurrent sCeAD (hazard ratio, 3.40 [95% CI, 1.58-7.31] and 2.07 [95% CI, 1.06-4.03], respectively) in multivariable Cox proportional hazards analysis., Conclusions: Risk factor profile of sCeAD patients with cFMD differs from that of patients without cFMD. cFMD and migraine are independent predictors of midterm risk of sCeAD recurrence.

To date, interest in the role of coffee intake in the occurrence and course of age-related neurological and neuropsychiatric disorders has provided an inconclusive effect. Moreover, no study has evaluated mocha coffee consumption in subjects with mild vascular cognitive impairment and late-onset depression. We assessed the association between different quantities of mocha coffee intake over the last year and cognitive and mood performance in a homogeneous sample of 300 non-demented elderly Italian subjects with subcortical ischemic vascular disease. Mini Mental State Examination (MMSE), Stroop Colour-Word Interference Test (Stroop T), 17-items Hamilton Depression Rating Scalfe (HDRS), Activities of Daily Living (ADL), and Instrumental ADL were the outcome measures. MMSE, HDRS, and Stroop T were independently and significantly associated with coffee consumption, i.e., better scores with increasing intake. At the post-hoc analyses, it was found that the group with a moderate intake (two cups/day) had similar values compared to the heavy drinkers (≥three cups/day), with the exception of MMSE. Daily mocha coffee intake was associated with higher cognitive and mood status, with a significant dose-response association even with moderate consumption. This might have translational implications for the identification of modifiable factors for vascular dementia and geriatric depression.

Long-term consequences of cervical artery dissection (CeAD), a major cause of ischemic stroke in young people, have been poorly investigated. The Italian Project on Stroke at Young Age - Cervical Artery Dissection (IPSYS CeAD) project is a multicenter, hospital-based, consecutively recruiting, observational, cohort study aimed to address clinically important questions about long-term outcome of CeAD patients, which are not covered by other large-scale registries. Patients with radiologically diagnosed CeAD were consecutively included in the registry. Baseline demographic and clinical variables, as well as information on risk factors, were systematically collected for each eligible patient. Follow-up evaluations were conducted between 3 and 6 months after the initial event (t 1 ) and then annually (t 2 at 1 year, t 3 at 2 years , and so on), in order to assess outcome events (long-term recurrent CeAD, any fatal/nonfatal ischemic stroke, transient ischemic attack (TIA), or other arterial thrombotic event, and death from any cause). Between 2000 and 2019, data from 1530 patients (age at diagnosis, 47.2 ± 11.5 years; women, 660 [43.1%]) have been collected at 39 Italian neurological centers. Dissection involved a single vessel in 1308 (85.5%) cases and caused brain ischemia in 1303 (85.1%) (190 TIA/1113 ischemic stroke). Longitudinal data are available for 1414 (92.4%) patients (median follow-up time in patients who did not experience recurrent events, 36.0 months [25th to 75th percentile, 63.0]). The collaborative IPSYS CeAD effort will provide novel information on the long-term outcome of CeAD patients. This could allow for tailored treatment approaches based on patients' individual characteristics.

The purposes of this study were to evaluate the differences in Mediterranean diet and its components among primary and secondary school children and adolescents living in northern Italy, and the associations with the weight status. Adherence was assessed by the KIDMED (Mediterranean Diet Quality Index) questionnaire on 669 subjects (6⁻16 years) attending five schools of Novara. The adherence was poor in 16.7%, average in 63.7%, and high in 19.6% of the students. Poor adherence was more frequent in primary than in secondary schools (20.7% vs. 13.7%, p < 0.04). Some unhealthy behaviors were more prevalent in younger children. Children of other ethnic origins had a mixed behavior, choosing both traditional healthy and unhealthy foods. Besides male gender and primary school, in Italian children, the risk of overweight was directly associated with eating at fast-food restaurants (OR: 1.890, CI 95% 1.002⁻3.563), and inversely with consumption of vegetables more than once a day (OR: 0.588, CI 95% 0.349⁻0.991), and olive oil at home (OR: 0.382, CI 95% 0.176⁻0.826). In children of other ethnic origins, this risk was associated with skipping breakfast (OR: 16.046, CI 95% 1.933⁻133.266), or consuming commercial baked good or pastries for breakfast (OR: 10.255, CI 95% 1.052⁻99.927). The overall KIDMED score correlated with height (β: 0.108; p < 0.005). Poor food quality is replacing the Mediterranean dietary pattern in children and adolescents, in particular among younger children. Because the risk of overweight was associated with different components of the Mediterranean diet depending on ethnic origins, tailored nutritional programs remain a need.

Previous studies have revealed a wide phenotypic heterogeneity in hereditary motor neuropathy type V in which upper and lower motor neurons and peripheral motor axons are variously affected, even within the same family. In this case series, we describe the genetic, clinical and electrophysiological features of patients belonging to a four-generation Italian family. Because of a possible anticipation phenomenon, the disorder became apparent at an earlier age as it passed to the next generation, with a median age of onset of 65 years for the first 2 generations, 32 for the third, and 13.5 for the fourth. The symptoms at onset varied considerably among the sufferers, with a predominant impairment of the hands in seven cases, the impairment of the four limbs in one patient and only of the lower limbs in another. Also muscle atrophy was variable, from very mild to severe (wasting of the distal muscles of the limbs). Moreover, electrophysiological results were heterogeneous, including cases with isolated and with diffuse axonal motor neuropathy, and one case of motor sensory polyneuropathy. A novel polymorphism G→T was also found in the Berardinelli-Seip congenital lipodystrophy 2 gene on intron 4. This broad phenotypic and genotypic spectrum calls the clinician attention to this rare and still insufficiently known disease.

The obstructed defecation syndrome is a frequent condition in the female population. Rectocele and rectal intussusception may cause symptoms of obstructed defecation. The aim of this study is to carry out an economic cost-revenue analysis comparing the rectocele and the rectal intussusception surgical techniques using a double-transanal, circular stapler (Stapled Trans-Anal Rectal Resection - STARR) with other techniques used to repair the same defects. The analysis involved the systematic calculation of the costs incurred during hospitalisation. The revenue estimate was obtained according to the rate quantification of the Diagnosis Related Group (DRG) associated with each hospitalisation. Our analysis confirmed that the global expenditure for the STARR technique amounts to 3,579.09 Euro as against 5,401.15 Euro for rectocele abdominal repair and 3,469.32 Euro for perineal repair. The intussusception repair cost according to Delorme's procedure amounts to 5,877.41Euro as against 3,579.09 Euro for the STARR technique. The revenue analysis revealed a substantial gain for the Health Authority as regards the treatment of rectocele and rectal intussusception for obstructed defecation syndrome. The highest revenue, 6,168. 52 Euro, was obtained with intussusception repair with STARR as compared to Delorme's procedure which presented revenue amounting to 2,359.04. Lower revenues are recorded if the STARR technique is intended for rectocele repair; in this case the revenue amounts to 1,778.12 Euro as against 869.67 Euro and 1,887.89 Euro for abdominal and perineal repair, respectively.

The aim of our research was to evaluate the latex allergy prevalence in 1300 health care workers by means of a self-administered questionnaire, clinical evaluation and specific allergological tests to confirm this condition. The results showed that all the questionnaire were completed, 60 subjects reported work-related symptoms, and 35 subjects out of 60 had latex allergy, 2.7% out of 1300 workers, lower than others studies, all 35 subjects were also atopic. This study confirms that the atopy is an important risk for the development of latex allergy.