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  • Springer Science and Business Media LLC  (5)
  • Cantello, Roberto  (5)
  • 2020-2024  (5)
  • 1
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2020
    In:  Neurological Sciences Vol. 41, No. 6 ( 2020-06), p. 1365-1367
    In: Neurological Sciences, Springer Science and Business Media LLC, Vol. 41, No. 6 ( 2020-06), p. 1365-1367
    Type of Medium: Online Resource
    ISSN: 1590-1874 , 1590-3478
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2020
    detail.hit.zdb_id: 1481772-X
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  • 2
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2023
    In:  Neurological Sciences Vol. 44, No. 8 ( 2023-08), p. 2795-2802
    In: Neurological Sciences, Springer Science and Business Media LLC, Vol. 44, No. 8 ( 2023-08), p. 2795-2802
    Abstract: Cognitive impairment (CI) is common in amyotrophic lateral sclerosis (ALS): a keystone is identifying factors that could potentially modify the CI course. In recent years, vitamin D is becoming a potential modificatory factor for CI in many neurological disorders. This study aimed to highlight if vitamin D deficiency correlated with CI and clinical features in a cohort of ALS patients. We included 55 ALS patients with a neuropsychological evaluation (classified with the Strong Criteria) and a vitamin D dosage at the diagnosis. We also reviewed medical records and completed data for medical history, physical and neurological examination, and functional scales. At the diagnosis, 30 patients (54%) had CI. Most patients (82%) displayed low vitamin D levels (19.87 ± 9.80 ng/ml). Comparing the vitamin D level between patients with and without CI, we observed significantly lower values in the first group (15.8 ± 8.2 vs. 22.0 ± 9.7 ng/ml, p : 0.04). In the spinal female subgroup ( n = 15), we found an inverse correlation between vitamin D and bizarreness score in the cognitive estimates test ( r = 0.58; p : 0.04) and a positive correlation with the Corrected Raven’s Standard Progressive Matrices ( r = 0.53, p : 0.04). Conversely, in the bulbar female group, we observed a correlation with the corrected direct span ( r = 0.84, p : 0.03). With the log-rank survival analysis, we found that the patients with vitamin D 〈 10 ng/ml had a shorter disease duration (Chi: 5.78, p : 0.02). Our results indicate that levels of vitamin D can influence the cognitive status of people living with ALS and that severe deficits might be an adverse prognostic survival factor.
    Type of Medium: Online Resource
    ISSN: 1590-1874 , 1590-3478
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 1481772-X
    Location Call Number Limitation Availability
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  • 3
    In: Neurological Sciences, Springer Science and Business Media LLC, Vol. 43, No. 4 ( 2022-04), p. 2195-2201
    Abstract: The pandemic implied dramatic changes in public health assets. In Italy, some Stroke Units were transformed into sub-intensive COVID-19 Units, making the management of neurological patients demanding. We described how the flow of neurological emergencies was affected by the pandemic impact. Methods We analyzed accesses to the Emergency Department (ED) of the “Maggiore della Carità” Hospital, Piedmont, Italy, during a period of 8 months (COVID time; March to May 2020 and October 2020 to February 2021) and analyzed the admissions to the Neurology Unit and the underlying diagnosis. We also evaluated potential changes in the treatment of acute ischemic stroke in the same period. These variables were compared with two equivalent periods of time (2019–2020; 2018–2019). Results During the COVID time, there was a clear-cut reduction of the total ED accesses compared to NoCOVID times. However, admissions for acute neurological conditions showed a mild but non-significant decrease (6.3%vs.7.3%). The same applied to acute ischemic stroke, which represented the most common condition (47.7%). The proportion of patients who underwent emergent reperfusion therapies remained unchanged. Furthermore, no difference was found in door-to-needle and door-to-groin intervals between COVID time and NoCOVID times. On the contrary, the onset-to-door interval was significantly longer during the COVID time ( p value: 0.001). Discussion While the percentage of admissions following an ED access grew dramatically, those to the Neurology Unit showed overall only a slight non-significant decrease. This finding implicitly reflects the serious and urgent nature of many neurological diseases, compelling people to access EDs at any time.
    Type of Medium: Online Resource
    ISSN: 1590-1874 , 1590-3478
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 1481772-X
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  • 4
    In: neurogenetics, Springer Science and Business Media LLC, Vol. 22, No. 1 ( 2021-03), p. 65-70
    Abstract: Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2 , PDGFRB , PDGFB , and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2 , two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2 .
    Type of Medium: Online Resource
    ISSN: 1364-6745 , 1364-6753
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 1475869-6
    SSG: 12
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  • 5
    In: BMC Medicine, Springer Science and Business Media LLC, Vol. 18, No. 1 ( 2020-12)
    Abstract: A connection between amyotrophic lateral sclerosis (ALS) and altered gut microbiota composition has previously been reported in animal models. This work is the first prospective longitudinal study addressing the microbiota composition in ALS patients and the impact of a probiotic supplementation on the gut microbiota and disease progression. Methods Fifty patients and 50 matched controls were enrolled. The microbial profile of stool samples from patients and controls was analyzed via PCR-Denaturing Gradient Gel Electrophoresis, and the main microbial groups quantified via qPCR. The whole microbiota was then analyzed via next generation sequencing after amplification of the V3–V4 region of 16S rDNA. Patients were then randomized to receive probiotic treatment or placebo and followed up for 6 months with ALSFRS-R, BMI, and FVC%. Results The results demonstrate that the gut microbiota of ALS patients is characterized by some differences with respect to controls, regardless of the disability degree. Moreover, the gut microbiota composition changes during the course of the disease as demonstrated by the significant decrease in the number of observed operational taxonomic unit during the follow-up. Interestingly, an unbalance between potentially protective microbial groups, such as Bacteroidetes, and other with potential neurotoxic or pro-inflammatory activity, such as Cyanobacteria, has been shown. The 6-month probiotic treatment influenced the gut microbial composition; however, it did not bring the biodiversity of intestinal microbiota of patients closer to that of control subjects and no influence on the progression of the disease measured by ALSFRS-R was demonstrated. Conclusions Our study poses the bases for larger clinical studies to characterize the microbiota changes as a novel ALS biomarker and to test new microbial strategy to ameliorate the health status of the gut. Trial registration CE 107/14, approved by the Ethics Committee of the “Maggiore della Carità” University Hospital, Italy.
    Type of Medium: Online Resource
    ISSN: 1741-7015
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2020
    detail.hit.zdb_id: 2131669-7
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