Background
The relationship between dietary habits and multiple sclerosis (MS) risk is still controversial. Most studies have involved populations from Scandinavia, North America, and Australia. Data ...on populations from southern Europe (an area of high MS prevalence) are scarce.
Objective
To examine the association between dietary habits/nutritional status and risk of a first demyelinating event, in a southern European incident cohort.
Methods
In this incident case-control study, a detailed nutritional assessment was performed by a registered dietitian in patients with a first demyelinating event, and in age-/sex-matched controls. Body composition analysis, anthropometric evaluation, and blood tests for nutritional status were also performed.
Results
Eighty-three patients with a first demyelinating event were prospectively recruited over a 1-year period. Low intake of fibers (OR 0.846,
p
= 0.014), vitamin D (OR 0.730,
p
< 0.0001), and alpha-linolenic acid (OR 0.283,
p
= 0.014), high BMI (OR 1.132,
p
= 0.028), and ever smoker status (OR 4.472,
p
= 0.003) were all independently associated with risk of a first demyelinating event. Higher intake of rapid absorption carbohydrates, lower intake of vegetal proteins, and higher intake of animal proteins were observed in patients with a first demyelinating event.
Conclusions
Significant differences between patients and controls are observed in the dietary habits at the time of a first demyelinating event, suggesting low intake of fibers, vitamin D and alpha-linolenic acid as the main dietary risk factors. Furthermore, high cardiovascular risk dietary habits are frequent at the time of MS onset, suggesting the usefulness of nutritional intervention as part of the activities of MS centers.
Neuronal ceroid lipofuscinoses (CNL) are lysosomal storage diseases that represent the most common cause of dementia in children. To date, 13 autosomal recessive (AR) and 1 autosomal dominant (AD) ...gene have been characterized. Biallelic variants in
cause CLN7 type, with nearly 50 pathogenic variants, mainly truncating and missense, reported so far. Splice site variants require functional validation. We detected a novel homozygous non-canonical splice-site variant in
in a 5-year-old girl who presented with progressive neurocognitive impairment and microcephaly. The diagnostic procedure was elicited by clinical genetics first, and then confirmed by cDNA sequencing and brain imaging. Inferred by the common geographic origin of the parents, an autosomal recessive inheritance was hypothesized, and SNP-array was performed as the first-line genetic test. Only three AR genes lying within the observed 24 Mb regions of homozygosity were consistent with the clinical phenotype, including
,
and
. The cerebral and cerebellar atrophy detected in the meantime by MRI, along with the suspicion of accumulation of ceroid lipopigment in neurons, prompted us to perform targeted
sequencing. Following the detection of a splice site variant of uncertain significance, skipping of exon 8 was demonstrated by cDNA sequencing, and the variant was redefined as pathogenic.
No information is currently available regarding the natural history of asymptomatic intracranial aneurysms in beta-thalassemia, raising several concerns about their proper management.
We performed a ...prospective longitudinal three-year-long MR-angiography study on nine beta-thalassemia patients (mean-age 40.3 ± 7.5, six females, 8 transfusion dependent) harboring ten asymptomatic intracranial aneurysms. In addition, we analyzed the clinical files of all adult beta-thalassemia patients (160 patients including those followed with MR-angiography, 121 transfusion dependent) referring to our Centers between 2014 and 2019 searching for history of subarachnoid hemorrhage or history of symptomatic intracranial aneurysms.
At the end of the three-year-long follow-up, no patient showed any change in the size and shape of the aneurysms, none presented new intracranial aneurysms or artery stenoses, none showed new brain vascular-like parenchymal lesions or enlargement of the preexisting ones. Besides, in our database of all adult beta-thalassemia patients, no one had history of subarachnoid hemorrhage or history of symptomatic intracranial aneurysms.
Incidental asymptomatic intracranial aneurysms do not seem to be associated, in beta-thalassemia, with an increased risk of complications (enlargement or rupture) at least in the short term period, helping to optimize human and economic resources and patient compliance during their complex long-lasting management.
Neuronal ceroid lipofuscinoses (CNL) are lysosomal storage diseases that represent the most common cause of dementia in children. To date, 13 autosomal recessive (AR) and 1 autosomal dominant (AD) ...gene have been characterized. Biallelic variants in MFSD8 cause CLN7 type, with nearly 50 pathogenic variants, mainly truncating and missense, reported so far. Splice site variants require functional validation. We detected a novel homozygous non-canonical splice-site variant in MFSD8 in a 5-year-old girl who presented with progressive neurocognitive impairment and microcephaly. The diagnostic procedure was elicited by clinical genetics first, and then confirmed by cDNA sequencing and brain imaging. Inferred by the common geographic origin of the parents, an autosomal recessive inheritance was hypothesized, and SNP-array was performed as the first-line genetic test. Only three AR genes lying within the observed 24 Mb regions of homozygosity were consistent with the clinical phenotype, including EXOSC9, SPATA5 and MFSD8. The cerebral and cerebellar atrophy detected in the meantime by MRI, along with the suspicion of accumulation of ceroid lipopigment in neurons, prompted us to perform targeted MFSD8 sequencing. Following the detection of a splice site variant of uncertain significance, skipping of exon 8 was demonstrated by cDNA sequencing, and the variant was redefined as pathogenic.
OBJECTIVEWe wanted to evaluate efficacy on inflammatory parameters of rituximab (RTX)-personalized reinfusion scheme using a memory B cell–based treatment regimen.
METHODSThis is a prospective, ...uncontrolled, open-label study including patients with MS treated with RTX in 2 Italian MS units. All patients were treated with RTX induction, followed by maintenance infusion at the dosage of 375 mg/m, according to memory B cell repopulation (0.05% of peripheral-blood mononuclear cells PBMCs for the first 2 years, 0.1% of PBMC for the third year). MS activity was assessed as clinical or MRI activity.
RESULTSOne hundred two patients were included in the analysis. Mean follow-up was 2.40 years (range 0.57–7.15 years). The annualized relapse rate (ARR) was 0.67 in the year before RTX start and decreased to 0.01 in the 3 years after RTX initiation (global ARR). The proportion of patient with MS activity (i.e., relapse or MRI activity) was 63.16% in the year before RTX start and decreased to 8.7% (0–6 months), 1.3% (6–12 months), 0% (12–24 months), and 0% (24–36 months). Annualized RTX infusion rates were 1.67 (95% confidence interval CI1.43–1.94), 0.76 (95% CI0.58–0.98), and 0.78 (95% CI0.52–1.12) for the first 3 years after RTX initiation, respectively. Patients were reinfused with a mean infusion interval of 367 days (range 181–839 days).
CONCLUSIONThe results of this study show that the memory B cell–based RTX reinfusion protocol is able to reduce the mean number of RTX reinfusions with persistent reduction of disease activity.
CLASSIFICATION OF EVIDENCEThis study provides Class IV evidence that for patients with MS, a memory B cell–based RTX reinfusion protocol can reduce the mean number of RTX reinfusions with persistent reduction of disease activity.
Background: An inverse association between physical activity and metabolic syndrome has been reported in several cohorts, but very few specific studies are available in the elderly, in whom ...neurological and musculo-skeletal diseases are expected to lead to a remarkable age-related decline of physical activity. Aim and Design: The relationships among physical activity, insulin resistance and metabolic syndrome were assessed in a cross-sectional study concerning 1144 subjects aged 65–91 years resident in Pianoro (northern Italy). Household and leisure-time activities were assessed by a self-administered questionnaire (Physical Activity Scale for Elderly—PASE). Routine clinical and biochemical data (including fasting insulin) were used to assess insulin resistance Homeostasis Model Assessment (HOMA) method and the prevalence of metabolic syndrome. Results: All PASE scores were inversely correlated with waist circumference, triglycerides and HOMA index, with highest significance for leisure-time activities (P ⩽ 0.005). The PASE score for household activities was also correlated inversely with blood glucose (P < 0.05), and directly with HDL cholesterol (P < 0.001). In logistic regression analysis, the metabolic syndrome was more prevalent among sedentary subjects (corresponding to the low tertile of leisure-time activities) than in the remaining more active population (odds ratio 1.51, 95% confidence interval 1.12–2.03, P = 0.007), independently of possible confounders. Conclusion: Physical activity is inversely associated with insulin resistance and the metabolic syndrome even in the elderly. Community programs favoring physical activity are expected to significantly improve the health status in these subjects.
The content of carcinoembryonic antigen (CEA), carbohydrate antigen 19-9 (Ca 19-9), carbohydrate antigen 15-3 (Ca 15-3) and the expression of LewisY related carbohydrate antigens in benign and ...malignant pleural effusion were determined. These included 35 malignant pleural effusions: 13 breast cancers, 12 lung cancers (6 squamous cell carcinomas, 5 adenocarcinomas and 1 microcytoma), 2 mesotheliomas, 1 epithelioma, 1 kidney cancer, 1 hepatocarcinoma, 1 colon carcinoma, 3 lymphomas, 1 osteosarcoma and 9 benign pleural effusions. We showed that pleural fluid content of CEA, Ca 19-9 and Ca 15-3 were higher in malignant than in benign effusions. However CEA levels in squamous lung cancers were very high in both serum and pleural fluids whereas its levels were only slightly above the cut-off in breast cancers and in lung adenocarcinomas. Serum and pleural fluid Ca 15-3 values were higher in breast and in lung cancers with the highest values in the patients with breast cancer. Furthermore, the LewisY related carbohydrate antigens, evaluated by the reactivity of the cell extracts to MAb B3, were expressed only in breast cancers. These data suggest that pleural fluid content of CEA, and Ca 15-3 associated with the immunoblotting of cell extracts with MAb B3 appear to be very useful to improve the diagnosis of malignant pleural effusions.
PDF
