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1.
Behav Sci (Basel) ; 14(3)2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-38540561

RESUMO

This study explores the interplay between executive functions and body weight, examining both the influence of biological factors, specifically sex, and methodological issues, such as the choice between Body Mass Index (BMI) and waist circumference (WC) as the primary anthropometric measure. A total of 386 participants (222 females, mean age = 45.98 years, SD = 17.70) were enrolled, from whom sociodemographic (sex, age, years of formal education) and anthropometric (BMI and WC) data were collected. Executive functions were evaluated using the Frontal Assessment Battery-15 (FAB15). The results showed the increased effectiveness of WC over BMI in examining the relationships between executive functions, sex differences, and body weight. In particular, this study revealed that there was a significant moderating effect of sex at comparable levels of executive functioning. Specifically, women with higher executive performance had lower WCs than their male counterparts, suggesting that executive function has a greater impact on WC in women than in men. Our findings highlight the importance of conducting more in-depth investigations of the complex relationship between cognitive deficits and weight gain, considering confounding variables of behavioral, psychobiological, and neurophysiological origin.

2.
J Geriatr Psychiatry Neurol ; : 8919887241227404, 2024 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-38233366

RESUMO

Apathy can manifest in various neuropsychiatric conditions, as well as in individuals who experience significant stressful life events or suffer from underlying internal medical conditions. The Starkstein Apathy Scale (SAS) is recognized as a reliable screening tool, besides being endorsed by the International Parkinson and Movement Disorder Society to assess apathy in patients with Parkinson's disease. Recently, the Italian version of this scale (SAS-I) has been introduced. Furthermore, normative data have been provided on a large sample of Italian healthy individuals. Here we present the official Italian translation of the SAS, along with clarifications regarding its administration. Also, we supply details concerning the scale's factorial structure, inter-item conditional associations and item performance by using EFA, Network analysis, and IRT modelling for polytomous items.

3.
Front Psychol ; 14: 1293624, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38144997

RESUMO

When normal individuals are asked to localize and mark the midpoint of a radial line, they tend to bisect it farther than the true center. It has been suggested that radial misbisection depends on the presence of a visual attentional bias directed toward the far space. The aim of the present study was to investigate whether the localization of the center of radial lines was affected by the starting position of the hand. There were two starting positions: one between the body and the radial line ("near"), the other beyond the radial line ("far"). Thirty-four subjects participated in the experiment. The results showed that (i) participants bisected radial lines farther than the true center, measured with reference to their body, in both near and far condition, and (ii) bisection errors in the near condition were greater than those in the far condition. We suggest that hand starting position and direction of ongoing movement influenced radial line misbisection by modulating visual attentional bias directed to far space.

4.
Front Psychol ; 14: 1121251, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37063521

RESUMO

Background: Parkinson's disease (PD) is a chronic neurodegenerative disorder characterized by motor and non-motor symptoms. The latter mainly include affective, sleep, and cognitive deficits. Non-demented PD patients often demonstrate impairments in several executive domains following neuropsychological evaluation. The current pilot study aims at assessing the discriminatory power of the Frontal Assessment Battery-15 (FAB15) in differentiating (i) non-demented PD patients and healthy controls and (ii) PD patients with more and less pronounced motor symptoms. Methods: Thirty-nine non-demented early-stage PD patients in the "on" dopamine state (26 females, mean age = 64.51 years, SD = 6.47, mean disease duration = 5.49 years, SD = 2.28) and 39 healthy participants (24 females, mean age = 62.60 years, SD = 5.51) were included in the study. All participants completed the FAB15. Motor symptoms of PD patients were quantified via the Unified Parkinson's Disease Rating Scale-Part III (UPDRS-Part III) and Hoehn and Yahr staging scale (H&Y). Results: The FAB15 score, adjusted according to normative data for sex, age, and education, proved to be sufficiently able to discriminate PD patients from healthy controls (AUC = 0.69 [95% CI 0.60-0.75], SE = 0.06, p = 0.04, optimal cutoff = 11.29). Conversely, the battery lacked sufficient discriminative capability to differentiate PD patients based on the severity of motor symptoms. Conclusion: The FAB15 may be a valid tool for distinguishing PD patients from healthy controls. However, it might be less sensitive in identifying clinical phenotypes characterized by visuospatial impairments resulting from posteroparietal and/or temporal dysfunctions. In line with previous evidence, the battery demonstrated to be not expendable in the clinical practice for monitoring the severity of PD-related motor symptoms.

5.
Int J Mol Sci ; 24(4)2023 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-36834642

RESUMO

Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive neuromodulation technique that is used against cognitive impairment in mild cognitive impairment (MCI) and Alzheimer's disease (AD). However, the neurobiological mechanisms underlying the rTMS therapeutic effects are still only partially investigated. Maladaptive plasticity, glial activation, and neuroinflammation, including metalloproteases (MMPs) activation, might represent new potential targets of the neurodegenerative process and progression from MCI to AD. In this study, we aimed to evaluate the effects of bilateral rTMS over the dorsolateral prefrontal cortex (DLPFC) on plasmatic levels of MMP1, -2, -9, and -10; MMPs-related tissue inhibitors TIMP1 and TIMP2; and cognitive performances in MCI patients. Patients received high-frequency (10 Hz) rTMS (MCI-TMS, n = 9) or sham stimulation (MCI-C, n = 9) daily for four weeks, and they were monitored for six months after TMS. The plasmatic levels of MMPs and TIMPs and the cognitive and behavioral scores, based on the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS), Beck Depression Inventory II, Beck Anxiety Inventory, and Apathy Evaluation Scale, were assessed at baseline (T0) and after 1 month (T1) and 6 months (T2) since rTMS. In the MCI-TMS group, at T2, plasmatic levels of MMP1, -9, and -10 were reduced and paralleled by increased plasmatic levels of TIMP1 and TIMP2 and improvement of visuospatial performances. In conclusion, our findings suggest that targeting DLPFC by rTMS might result in the long-term modulation of the MMPs/TIMPs system in MCI patients and the neurobiological mechanisms associated with MCI progression to dementia.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Humanos , Estimulação Magnética Transcraniana/métodos , Metaloproteinase 1 da Matriz , Disfunção Cognitiva/psicologia , Doença de Alzheimer/terapia , Metaloproteinases da Matriz , Córtex Pré-Frontal
6.
Artigo em Inglês | MEDLINE | ID: mdl-36141782

RESUMO

BACKGROUND: The relationship binding body weight to psychological well-being is unclear. The present study aims at identifying the contribution, and specificity, of some dimensions (i.e., eating-related symptoms, body image disorders, eating habits, personality traits, and emotional difficulties) characterizing the psychological profile of obese adolescents (749 participants, 325 females; 58.3% normal-weight, 29.9% overweight, and 11.7% obese; mean age = 16.05, SD = 0.82). METHODS: By introducing the scores obtained by standardized self-report tools into a generalized linear model, a factorial reduction design was used to detect the best fitting discriminant functions and the principal components explaining the higher proportion of the variance. RESULTS: We found two discriminant functions correctly classifying 87.1% of normal-weight, 57.2% of overweight, and 68.2% of obese adolescents. Furthermore, two independent factors, explaining 69.68% of the total variance, emerged. CONCLUSIONS: The first factor, "Body Image Concerns", included the drive for thinness, body dissatisfaction, and interpersonal distrust. The second factor, "Selective Depersonalization", included a trend toward depersonalization and dissatisfaction with the torso. The neurophysiological implications of our findings will be discussed.


Assuntos
Imagem Corporal , Obesidade Infantil , Adolescente , Imagem Corporal/psicologia , Índice de Massa Corporal , Peso Corporal , Despersonalização , Feminino , Humanos , Sobrepeso/epidemiologia , Sobrepeso/psicologia , Projetos Piloto
7.
Brain Sci ; 12(8)2022 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-36009143

RESUMO

In the last decades, it has been proposed that executive functions may be particularly vulnerable to weight-related issues. However, evidence on the matter is mixed, especially when the effects of sociodemographic variables are weighted. Thus, the current study aimed at further examining the relationship between executive functions and obesity. To this aim, we compared treatment-seeking overweight, obese, and morbidly obese patients with normal-weight control participants. We examined general executive functioning (Frontal Assessment Battery−15) and different executive subdomains (e.g., inhibitory control, verbal fluency, and psychomotor speed) in a clinical sample including 208 outpatients with different degrees of BMI (52 overweight, BMI 25−30, M age = 34.38; 76 obese, BMI 30−40, M age = 38.00; 80 morbidly obese, BMI > 40, M age = 36.20). Ninety-six normal-weight subjects served as controls. No difference on executive scores was detected when obese patients were compared with over- or normal-weight subjects. Morbidly obese patients reported lower performance on executive scores than obese, overweight, and normal-weight subjects. Between-group difference emerged also when relevant covariates were taken into account. Our results support the view that morbid obesity is associated with lower executive performance, also considering the critical role exerted by sociodemographic (i.e., sex, age, and education) variables. Our results support the view that executive functioning should be accounted into the management of the obese patient because of non-negligible clinical relevance in diagnostic, therapeutic, and prognostic terms.

8.
Brain Sci ; 12(6)2022 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-35741662

RESUMO

BACKGROUND: Recent evidence suggests that a higher body weight may be linked to cognitive impairment in different domains involving executive/frontal functioning. However, challenging results are also available. Accordingly, our study was designed to verify whether (i) poor executive functions are related to a higher body weight and (ii) executive functioning could contribute to weight loss in treatment-seeking overweight and obese patients. METHODS: We examined general executive functioning, inhibitory control, verbal fluency, and psychomotor speed in a sample including 104 overweight and obese patients. Forty-eight normal-weight subjects participated in the study as controls. RESULTS: Univariate Analysis of Variance showed that obese patients obtained lower scores than overweight and normal-weight subjects in all executive measures, except for errors in the Stroop test. However, when sociodemographic variables entered the model as covariates, no between-group difference was detected. Furthermore, an adjusted multiple linear regression model highlighted no relationship between weight loss and executive scores at baseline. CONCLUSIONS: Our results provide further evidence for the lack of association between obesity and the executive domains investigated. Conflicting findings from previous literature may likely be due to the unchecked confounding effects exerted by sociodemographic variables and inclusion/exclusion criteria.

9.
Biomedicines ; 10(5)2022 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-35625731

RESUMO

Repetitive transcranial magnetic stimulation (rTMS) is a noninvasive neuromodulation technique that is increasingly used as a nonpharmacological intervention against cognitive impairment in Alzheimer's disease (AD) and other dementias. Although rTMS has been shown to modify cognitive performances and brain functional connectivity (FC) in many neurological and psychiatric diseases, there is still no evidence about the possible relationship between executive performances and resting-state brain FC following rTMS in patients with mild cognitive impairment (MCI). In this preliminary study, we aimed to evaluate the possible effects of rTMS of the bilateral dorsolateral prefrontal cortex (DLPFC) in 27 MCI patients randomly assigned to two groups: one group received high-frequency (10 Hz) rTMS (HF-rTMS) for four weeks (n = 11), and the other received sham stimulation (n = 16). Cognitive and psycho-behavior scores, based on the Repeatable Battery for the Assessment of Neuropsychological Status, Beck Depression Inventory-II, Beck Anxiety Inventory, Apathy Evaluation Scale, and brain FC, evaluated by independent component analysis of resting state functional MRI (RS-fMRI) networks, together with the assessment of regional atrophy measures, evaluated by whole-brain voxel-based morphometry (VBM), were measured at baseline, after five weeks, and six months after rTMS stimulation. Our results showed significantly increased semantic fluency (p = 0.026) and visuo-spatial (p = 0.014) performances and increased FC within the salience network (p ≤ 0.05, cluster-level corrected) at the short-term timepoint, and increased FC within the left fronto-parietal network (p ≤ 0.05, cluster-level corrected) at the long-term timepoint, in the treated group but not in the sham group. Conversely, regional atrophy measures did not show significant longitudinal changes between the two groups across six months. Our preliminary findings suggest that targeting DLPFC by rTMS application may lead to a significant long-term increase in FC in MCI patients in a RS network associated with executive functions, and this process might counteract the progressive cortical dysfunction affecting this domain.

10.
J Integr Neurosci ; 21(2): 67, 2022 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-35364655

RESUMO

Decreased upper-extremity/visuomotor abilities are frequently encountered in healthy aging. However, few studies have assessed hand movements in the prodromal stage of dementia. The evaluation of visuomotor skills in patients with Mild Cognitive Impairment (PwMCI) may have non-negligible clinical relevance both in diagnostic and prognostic terms, given the strong relationships with executive functioning and functional autonomies. In the present review paper, these issues will be disclosed by describing general pathophysiological and neuropsychological mechanisms responsible for visuomotor deficits, and by reporting the available experimental results on differences in visuomotor functioning between PwMCI, healthy controls and/or patients with dementia. Moreover, the relationships binding visuomotor and executive domains to functional autonomies will be then addressed. Finally, we will propose insights for future research.


Assuntos
Disfunção Cognitiva , Disfunção Cognitiva/diagnóstico , Função Executiva/fisiologia , Humanos , Testes Neuropsicológicos , Resolução de Problemas
11.
Brain Sci ; 12(3)2022 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-35326267

RESUMO

Caregivers of patients with early-onset Alzheimer's disease (EOAD) experience higher level of burden, stress, and depression, due to premature role changes and social isolation. Moreover, the SARS-CoV-2 pandemic compelled restrictions regarding social interactions and mobility in Italy from March 2020, prompting telemedicine approaches for supporting patients and their families confined at home. We reported our experience regarding the effects of psychological phone-intervention (phone-I) on EOAD caregivers during pandemic. Twenty caregivers of EOAD patients were randomly assigned to treatment (TG) or control (CG) group. TG weekly underwent a phone-I for one month. All participants were assessed for caregiver burden and needs, anxiety and depression levels, and subjective impact of traumatic events at baseline (T0), at the fifth week (T1) and after 6 months (T2) from phone-I. We observed higher vulnerability to post-traumatic stress in TG compared to CG in all timepoints (p ≤ 0.05). Decreased stress effects and caregiver burden were revealed in TG at T1 compared to T0 (p ≤ 0.05), although showing an increase of these measures at T2 in the treated caregivers. Our findings suggest that although TG showed a peculiar vulnerability to post-traumatic stress, they showed increased wellbeing immediately after phone-I. However, this benefit disappeared six months later, along with the second infection wave, probably due to "exhaustion stage" achievement in "General Adaptation Syndrome". This trend may suggest a beneficial but not solving role of a prompt phone-I on burden of caregivers of EOAD patients during the SARS-CoV-2 emergency.

12.
J Geriatr Psychiatry Neurol ; 35(3): 418-433, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34044661

RESUMO

Alzheimer's disease (AD) patients underperform on a range of tasks requiring semantic processing, but it is unclear whether this impairment is due to a generalised loss of semantic knowledge or to issues in accessing and selecting such information from memory. The objective of this eye-tracking visual search study was to determine whether semantic expectancy mechanisms known to support object recognition in healthy adults are preserved in AD patients. Furthermore, as AD patients are often reported to be impaired in accessing information in extra-foveal vision, we investigated whether that was also the case in our study. Twenty AD patients and 20 age-matched controls searched for a target object among an array of distractors presented extra-foveally. The distractors were either semantically related or unrelated to the target (e.g., a car in an array with other vehicles or kitchen items). Results showed that semantically related objects were detected with more difficulty than semantically unrelated objects by both groups, but more markedly by the AD group. Participants looked earlier and for longer at the critical objects when these were semantically unrelated to the distractors. Our findings show that AD patients can process the semantics of objects and access it in extra-foveal vision. This suggests that their impairments in semantic processing may reflect difficulties in accessing semantic information rather than a generalised loss of semantic memory.


Assuntos
Doença de Alzheimer , Semântica , Humanos , Memória , Percepção Visual
13.
Neurol Sci ; 43(3): 1709-1719, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34410549

RESUMO

OBJECTIVE: The Frontal Assessment Battery (FAB) is a neuropsychological tool largely used to assess executive functions. Prior studies found a marked ceiling effect for the prehension behavior subtest (PBT) in healthy and clinical populations. Aims of the present study were (i) to examine the psychometric properties of the FAB without the contribution of PBT and (ii) to provide normative data for a revised version of the FAB after exclusion of PBT (FAB15). METHODS: The normative sample included 1,187 healthy participants. PBT had near-zero variance, poor content validity, and no discrimination power. Internal consistency increased when PBT was excluded. We assessed the FAB15 factorial structure, interrater, and test-retest reliabilities. Normative data  for the FAB15 were extracted through a regression-based procedure according to sex, age, and education. RESULTS: The principal component analysis revealed a single "executive factor" or alternatively a bifactorial solution reflecting the different degree of discriminative capability vs. difficulty of the subtests. The FAB15 demonstrated excellent interrater and test-retest reliabilities. Regression analysis showed that sex (lowly educated women < lowly educated men), higher age, and lower education affected FAB15 score. Accordingly, three grids for adjustment of raw scores (men, women, and both) were constructed. The cut-off was fixed at the non-parametric outer tolerance limit on the fifth centile (9.36, 95% CI). CONCLUSION: The observation of a ceiling effect in healthy subjects makes PBT not suitable for inclusion in a neuropsychological battery. The FAB15 may successfully replace the conventional FAB as a more severe and valid short screening tool to assess executive functioning.


Assuntos
Função Executiva , Escolaridade , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Psicometria , Reprodutibilidade dos Testes
14.
Aging Clin Exp Res ; 34(2): 289-307, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34232485

RESUMO

In the present review, we discuss the rationale and the clinical implications of assessing visuospatial working memory (VSWM), awareness of memory deficits, and visuomotor control in patients with mild cognitive impairment (MCI). These three domains are related to neural activity in the posteromedial parietal cortex (PMC) whose hypoactivation seems to be a significant predictor of conversion from MCI to Alzheimer's disease (AD) as indicated by recent neuroimaging evidence. A systematic literature search was performed up to May 2021. Forty-eight studies were included: 42 studies provided analytical cross-sectional data and 6 studies longitudinal data on conversion rates. Overall, these studies showed that patients with MCI performed worse than healthy controls in tasks assessing VSWM, awareness of memory deficits, and visuomotor control; in some cases, MCI patients' performance was comparable to that of patients with overt dementia. Deficits in VSWM and metamemory appear to be significant predictors of conversion. No study explored the relationship between visuomotor control and conversion. Nevertheless, it has been speculated that the assessment of visuomotor abilities in subjects at high AD risk might be useful to discriminate patients who are likely to convert from those who are not. Being able to indirectly estimate PMC functioning through quick and easy neuropsychological tasks in outpatient settings may improve diagnostic and prognostic accuracy, and therefore, the quality of the MCI patient's management.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Doença de Alzheimer/diagnóstico , Disfunção Cognitiva/diagnóstico , Estudos Transversais , Progressão da Doença , Humanos , Testes Neuropsicológicos , Neuropsicologia , Lobo Parietal/diagnóstico por imagem
15.
Brain Sci ; 11(11)2021 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-34827534

RESUMO

A difficulty in encoding spatial information in an egocentric (i.e., body-to-object) and especially allocentric (i.e., object-to-object) manner, and impairments in executive function (EF) are typical in amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD). Since executive functions are involved in spatial encodings, it is important to understand the extent of their reciprocal or selective impairment. To this end, AD patients, aMCI and healthy elderly people had to provide egocentric (What object was closest to you?) and allocentric (What object was closest to object X?) judgments about memorized objects. Participants' frontal functions, attentional resources and visual-spatial memory were assessed with the Frontal Assessment Battery (FAB), the Trail Making Test (TMT) and the Corsi Block Tapping Test (forward/backward). Results showed that ADs performed worse than all others in all tasks but did not differ from aMCIs in allocentric judgments and Corsi forward. Regression analyses showed, although to different degrees in the three groups, a link between attentional resources, visuo-spatial memory and egocentric performance, and between frontal resources and allocentric performance. Therefore, visuo-spatial memory, especially when it involves allocentric frames and requires demanding active processing, should be carefully assessed to reveal early signs of conversion from aMCI to AD.

16.
Brain Sci ; 11(9)2021 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-34573166

RESUMO

It is widely acknowledged that obesity is a growing public clinical issue involving both physical and psychological well-being. Nevertheless, the relationship between psychological features and weight gain is still unclear. Although emotional eating (EE) and personality traits are considered significant predictors of eating disorders, their role in obesity without eating disorders (OB-wed) is far from proven. The present study aimed at investigating the cumulative effect of EE and personality traits on overeating behavior in a sample of 266 university students (169 female; mean age = 21.85, SD = 2.39) stratified based on their body mass index (BMI; normal weight, overweight, obese). They were enrolled during free screening days promoted by the Human Dietetic and Sport Service of a Southern Italian university. The results show a psychological pattern of increasing overeating behavior and lower Self-Directedness combined with higher Sadness and Anger. However, OB-wed subjects overate regardless of this emotional/personological configuration.

17.
Aging Clin Exp Res ; 33(10): 2759-2766, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33733325

RESUMO

BACKGROUND: Early detection of anxiety symptoms in older people is capital as it may be linked to increased physical/functional disabilities, onset and progression of neurodegenerative disorders, and poor cognitive functioning. Nonetheless, there is a paucity of psychometrically validated anxiety measures in the elderly. AIMS: This study aimed at assessing the psychometric properties of the State-Trait Anxiety Inventory-Form Y (STAI-Y) and providing the first normative data for the Italian elderly population. METHODS: The sample included 361 individuals aged 65-94. All subjects underwent the Mini-Mental State Examination (MMSE), the Geriatric Depression Scale (GDS), and the state (S-Anxiety) and trait anxiety (T-anxiety) scales of the STAI-Y. RESULTS: The S-Anxiety and T-Anxiety scales showed reliable internal consistency and, overall, good item characteristics. Divergent validity was "apparently" threatened, with S-Anxiety scale correlating with MMSE and GDS, and T-Anxiety scale only with GDS. The principal component analysis revealed a three-factor solution for both scales, i.e., presence and absence of state (or trait) anxiety, and performance anxiety. Since no effect of sociodemographic variables was found, unadjusted cutoffs were provided. CONCLUSIONS: Although some questions on the psychometric properties of the STAI-Y remain unanswered, this normative study can help clinicians and researchers to monitor anxiety levels in the Italian elderly population.


Assuntos
Transtornos de Ansiedade , Ansiedade , Idoso , Ansiedade/diagnóstico , Humanos , Itália , Escalas de Graduação Psiquiátrica , Psicometria
18.
BMC Neurol ; 21(1): 17, 2021 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-33435912

RESUMO

BACKGROUND: Glucocerebrosidase (GBA) heterozygous variants are the most important genetic risk factor for the development of alpha-synucleinopathies (i.e., Parkinson's disease and Dementia with Lewy Bodies). Herein, we report for the first time on a patient with a clinical diagnosis of Posterior Cortical Atrophy, carrier of the common GBA heterozygous variant N370S (c.1226A > G). CASE PRESENTATION: A 44-year-old woman with positive familial history for Dementia with Lewy Bodies disclosed three related signs characterizing the Balint's syndrome: ocular apraxia, optic ataxia and simultanagnosia. Over 2-year follow up, overt gaze apraxia (psychic paralysis of gaze) appeared leading to functional blindness. Given her young age at onset and positive familial history, she underwent a next-generation-sequencing (NGS) based screening of a panel of 32 genes related to neurodegenerative conditions within the ANAMNESYS (An origiNal Approach to study faMiliarity in NEurodegenerative SYndromeS) study. NGS demonstrated the N370S variant in the GBA gene (rs76763715), confirmed by Sanger sequencing. This is a relatively common variant, with predicted mild impact, already reported to occur in 2.4% of PD Italian patients; however, neither this nor other GBA variants have ever been reported to date in patients with Posterior Cortical Atrophy. Glucocerebrosidase activity was investigated and found to be significantly reduced (4.72 nmol/h/mg) compared to healthy controls as well as patients affected by neurodegenerative diseases, further supporting pathogenicity of the GBA variant. CONCLUSIONS: We report on a patient with a clinical diagnosis of Posterior Cortical Atrophy, carrier of the GBA heterozygous variant N370S (c.1226A > G; p.Asn409Ser) determining reduced GCase activity. This report also confirms the role of NGS-based targeted gene analysis in detecting peculiar clinical phenotypes associated with known pathogenic mutations and reinforces the knowledge that carriers of genetic variants often present phenotypic overlaps across different neurodegenerative syndromes, highlighting the limitations of current clinical diagnostic criteria in defining boundaries between distinct conditions and the difficulties of clinicians in reaching the best clinical diagnosis.


Assuntos
Glucosilceramidase/genética , Doenças Neurodegenerativas/genética , Adulto , Idade de Início , Atrofia/genética , Feminino , Heterozigoto , Humanos , Itália , Mutação , Fenótipo
19.
Jpn J Infect Dis ; 74(1): 61-64, 2021 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-32611978

RESUMO

Since the beginning of the coronavirus disease 2019 (COVID-19) epidemic in China, elderly and multimorbid subjects showed a higher mortality rate. However, other factors could influence the mortality and spread of contagion, such as population density. Archival research based on the Italian data stratified by region was performed to quantify the association between population density, aging index, number of positive cases, number of deaths, case-fatality rate, and medical equipment (gloves, masks, and ventilators). Results showed a significant positive linear correlation between population density and cases, deaths, and case-fatality rate. No correlation with the aging index was observed. Furthermore, we found a significant positive correlation between the number of medical supplies and population density, cases, and deaths. However, the medical supplies did not show any correlation with the case-fatality rate. Thus, these findings suggest that the population density and the lack of medical equipment are key factors explaining the morbidity and mortality of COVID-19 in Italy.


Assuntos
COVID-19/epidemiologia , COVID-19/mortalidade , Densidade Demográfica , SARS-CoV-2 , COVID-19/patologia , Humanos , Itália/epidemiologia , Fatores de Risco
20.
Neurol Sci ; 42(3): 1065-1072, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32729011

RESUMO

OBJECTIVES: The present normative study aimed to (1) develop the Italian version of the Starkstein Apathy Scale (SAS-I) and (2) construct a shortened version including only the most sensitive items to "pure apathy" experiences. METHODS: The normative sample included 392 healthy subjects. A regression-based procedure was used to explore the effects of sex, age, and education on the raw SAS-I score. A correction grid was designed for adjusting raw scores by adding or subtracting the contribution of any significant variable and net of sociodemographic interindividual differences. Cutoff scores were also calculated and fixed at the external tolerance limit on the ninety-fifth centile. To obtain the shortened version, each SAS-I item was correlated with the Beck's Depression Inventory (BDI) score. The only items showing no correlation with BDI were implemented to bypass the well-known overlap between apathetic and depressive symptoms. RESULTS: The mean raw SAS-I score was 11.27 (SD = 4.42). A significant education effect was observed, with highly educated subjects obtaining lower scores than lowly educated ones. The proposed general cutoff score was 20.68. The SAS-I had fair internal consistency and discriminant validity. Internal consistency increased by removing item 3. The new SAS-6 included items 1, 2, 4, 10, 11, and 13 of the original scale. CONCLUSION: The SAS-I is a reliable assessment tool to support the diagnosis of apathy. The SAS-6, instead, is a brief questionnaire useful for quickly screening apathetic symptoms in outpatient practice, addressing or not the clinician to further investigations.


Assuntos
Apatia , Escolaridade , Humanos , Itália , Pacientes Ambulatoriais , Escalas de Graduação Psiquiátrica , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários
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