A successful defence strategy in grapevine cultivar 'Tocai friulano' provides compartmentation of grapevine Flavescence dorée phytoplasma.

BACKGROUND: Flavescence dorée (FD) is a grapevine disease caused by phytoplasma and it is one of the most destructive pathologies in Europe. Nowadays, the only strategies used to control the epidemics are insecticides against vector, but more sustainable techniques are required. Completely resistant Vitis vinifera varieties have not been uncovered yet, but differences in susceptibility among cultivars and spontaneous recovery from FD symptoms have been observed. The grapevine cultivar 'Tocai friulano' shows very low susceptibility to FD but its defence strategy to counteract the phytoplasma spread has not been deciphered yet. In this work, the mechanisms occurring within 'Tocai friulano' FD-infected plants were examined in depth to identify the phytoplasma distribution and the defence pathways involved. RESULTS: In 'Tocai friulano' symptoms of FD-infection remained confined near the area where they appeared during all the vegetative season. Analyses of secondary phloem showed a total absence of FD phytoplasma (FDp) in the trunk and its disappearance in 2-year-old arms from July to November, which was different from 'Pinot gris', a highly susceptible variety. Diverse modulations of defence genes and accumulation of metabolites were revealed in 1-year-old canes of 'Tocai friulano' FD-infected plants, depending on the sanitary status. Symptomatic portions showed high activation of both jasmonate- and salicylate-mediated responses, together with a great accumulation of resveratrol. Whereas activation of jasmonate-mediated response and high content of ε-viniferin were identified in asymptomatic 1-year-old cane portions close to the symptomatic ones. CONCLUSION: Successful defence mechanisms activated near the symptomatic areas allowed the compartmentation of FD symptoms and phytoplasmas within the infected 'Tocai friulano' plants. These results could suggest specific agronomical practices to be adopted during FD management of this variety, and drive research of resistance genes against FD.

Telephone Interview for Cognitive Status (TICS): Italian adaptation, psychometrics and diagnostics.

BACKGROUND: Telephone-based cognitive screening (TBCS) is crucial to telehealth care of neurological patients, prevention campaigns, and epidemiological studies on cognitive impairment. The Telephone Interview for Cognitive Status (TICS) is one of the most widespread and psychometrically/diagnostically sound TBCS test, with several versions developed worldwide (e.g., with and without a delayed recall item). In Italy, only attempts of adaptation and preliminary evidence of its statistical features have been provided so far. This study thus aimed at (1) developing an Italian version of the TICS and assessing its (2) psychometric and (3) diagnostic properties. METHODS: A back-translated and culturally adapted version of the TICS was developed. Three-hundred and sixty-five healthy individuals from different regions of Italy (147 males, 216 females; age: 53.2 ± 16 years; education: 13 ± 4.5 years) were administered the TICS and the Italian telephone-based Mini-Mental State Examination (Itel-MMSE). Validity was tested by convergence and at the structure level, whereas reliability as internal consistency, test-retest, and inter-rater. Diagnostic accuracy, item difficulty, and discrimination were also examined. RESULTS: The TICS featured a single component and its score converged with that of the Itel-MMSE (rs = .37). Reliability was excellent as inter-rater (ICC = .94), good as test-retest (ICC = .78), and acceptable as internal consistency (Cronbach's α = .63). Accuracy was high as tested against the Itel-MMSE (AUC = .83) and did not improve when adding the delayed recall. Backward subtraction was the most difficult and discriminative task. DISCUSSION: The Italian TICS is a valid, reliable, and diagnostically accurate TBCS test. The original format of the TICS can be thus adopted in both clinical and research settings.

The Testamentary Capacity Assessment Tool (TCAT): validation and normative data.

BACKGROUND: There is an increasing need for objective and standardized assessment of testamentary capacity (TC) in dementia. A new instrument, the Testamentary Capacity Assessment Tool (TCAT), has been recently developed; however, the lack of validation and normative data regarding this cognitive screening test has limited its adoption in forensic and clinical settings. The present study collects normative data for the TCAT and assesses its convergent validity with standardized cognitive tests and the capacity to define what a 'testament' is. METHODS: The study involved 323 neurologically healthy adults (123 males, 200 females) of different ages (31-93 years) and different educational levels (4-25 years). The TCAT was administered along with the Beck Depression Inventory-II (BDI-II), the Montreal Cognitive Assessment (MoCA), the Mini-Mental State Examination (MMSE), the Frontal Assessment Battery (FAB) and the Testament Definition Scale (TDS). RESULTS: Multiple regression analyses revealed a significant effect for gender, age and education on TCAT scores. Correlation analyses showed significant associations between the TCAT and the MMSE, MoCA, FAB and BDI-II. A positive correlation between the TCAT and TDS was also found, proving good convergent validity of the TCAT with respect to TC. Finally, cut-off scores and Equivalent Scores (ES) were computed. DISCUSSION: The present study provides normative data for using the TCAT as an adjuvant cognitive screening test in the neuropsychological evaluation of TC. Our findings shall be of interest for the adoption of the TCAT also in clinical practice, since it evaluates cognitive functions (e.g., autobiographic memory, Theory of Mind) not measured by traditional screening tests.

ALS Cognitive Behavioral Screen-Phone Version (ALS-CBS™-PhV): norms, psychometrics, and diagnostics in an Italian population sample.

BACKGROUND: Up to 50% of motor neuron disease (MND) patients show neuropsychological deficits which negatively affect prognosis and care. However, disability-related logistical issues and uneven geographical coverage of healthcare services may prevent MND patients from accessing neuropsychological evaluations. This study thus aimed to standardize for the Italian population the ALS Cognitive Behavioral Screen-Phone Version (ALS-CBS™-PhV), an MND-specific, telephone-based screening for frontotemporal dysfunction. METHODS: The cognitive section of the ALS-CBS™-PhV, the Italian telephone-based Mini-Mental State Examination (Itel-MMSE), and the Telephone Interview for Cognitive Status (TICS) was administered to 359 healthy individuals (143 males, 216 females; age, 52.7 ± 15.8; education, 13.1 ± 4.4). Norms were derived through equivalent scores. Validity, factorial structure, reliability, diagnostic accuracy, and item difficulty and discrimination were examined. Statistical equivalence between the telephone-based and in-person versions was tested. RESULTS: ALS-CBS™-PhV measures were predicted by age and education. The ALS-CBS™-PhV reflected a mono-component structure, converged with Itel-MMSE and TICS scores (rs = .23-.51) and was equivalent to its in-person format (t = .37; p = .72). Good internal (Cronbach's α = .61), test-retest (ICC = .69), and inter-rater (ICC = .96) reliability was detected. High accuracy was found when tested against both the Itel-MMSE and the TICS (AUC = .82-89). Backward digit span items were the most discriminative. DISCUSSION: The ALS-CBS™-PhV is a statistically solid screening test for frontotemporal disorders featuring MND. Its standardization allows for (1) improvements in tele-healthcare for MND patients, (2) epidemiological applications, and (3) effective assessments in decentralized clinical trials. The ALS-CBS™-PhV can be also suitable for assessing bedridden and visually impaired patients with motor disorders.

The Frontal Assessment Battery (FAB) and its sub-scales: validation and updated normative data in an Italian population sample.

BACKGROUND: Deficits of executive functioning (EF) are frequently found in neurological disorders. The Frontal Assessment Battery (FAB) is one of the most widespread and psychometrically robust EF screeners in clinical settings. However, in Italy, FAB norms date back to 15 years ago; moreover, its validity against "EF-loaded" global cognitive screeners (e.g., the Montreal Cognitive Assessment, MoCA) has yet to be tested. This study thus aimed at (a) providing updated normative data for the Italian FAB and (b) assessing its convergent validity with the MoCA. METHODS: Four-hundred and seventy-five healthy Italian native speakers (306 females, 169 males; mean age: 61.08 ± 15.1; mean education: 11.67 ± 4.57) were administered by the MoCA and the FAB. FAB items were divided into three subscales: FAB-1 (linguistically mediated EF), FAB-2 (planning), and FAB-3 (inhibition). Regression-based norms were derived (equivalent scores) for all FAB measures. RESULTS: Age and education were predictive of all FAB measures, whereas no gender differences were detected. The FAB and its sub-scales were related to MoCA measures-the strongest associations being found with MoCA total and MoCA-EF scores. FAB sub-scales were both internally related and associated with FAB total scores. DISCUSSION: The FAB proved to have convergent validity with both global cognitive and EF measures in healthy individuals. The present study provides updated normative data for the FAB and its sub-scales in an Italian population sample, and thus supports an adaptive usage of this EF screener.

Evaluation of the CNC® prosthetic system in recurrent breast cancer patients with chemotherapy-induced alopecia: a pilot study.

BACKGROUND: Chemotherapy-induced alopecia (CIA), although generally reversible, is felt as extremely distressing by patients with breast cancer. A certified medical device (Capelli Naturali a Contatto®-CNC®) was produced to provide patients with a personalized scalp prosthesis, reproducing the patient's original hair, resistant to any type of everyday or sporting activity, and hairdressing. AIMS: The present study aimed to evaluate the impact of the CNC® device on the patient's perception of their body image, psychological wellbeing, satisfaction, strengths and weakness of the CNC® device. METHOD: A pilot study was carried out on 21 patients affected by CIA due to recurrent breast cancer. A mixed quantitative/qualitative method was used, including administering a questionnaire and a focus group. RESULTS: Based on the Body Image Scale, body image perception improved after 3 and 6 months using the device in the 20 patients who answered the questionnaire. No significant change over time emerged for the six dimensions investigated by the Italian version of the Psychological Well-Being Scale. The thematic analysis of the focus groups showed six themes: definition of the prosthetic device, acceptance of the proposal, experience with the conventional wig, strengths, weaknesses, economic issues. CONCLUSION: Compared to the previous experience of CIA and the standard wig, the use of the CNC® device improved everyday life and may be proposed to women undergoing chemotherapy and expecting alopecia to prevent discomfort, social embarrassment, and compromised body image.

Italian telephone-based Mini-Mental State Examination (Itel-MMSE): item-level psychometric properties.

BACKGROUND: The Italian telephone-based Mini-Mental State Examination (Itel-MMSE), despite being psychometrically sound, has shown relevant ceiling effects, which may negatively impact the interpretation of its scores. In address to overcome such an issue, this study aimed at providing item-level insights on the Itel-MMSE through Item Response Theory (IRT) analyses. METHODS: Five-hundred and sixty-seven healthy Italian adults (227 males, 340 females; mean age: 51 ± 17 years, range 18-96; mean education: 13.31 ± 4.3 years). A two-parameter logistic IRT model was implemented to assess item discrimination and difficulty of the Itel-MMSE. Construct unidimensionality, statistical independence of items, and model and item fit were tested. Informativity levels were also assessed graphically. RESULTS: With respect to the Itel-MMSE total score, ceiling effects were found in 92.7% of participants. Unidimensionality was violated; both model and item fit were poor; a few items showed statistical dependence. Both the whole test and its items proved to be scarcely informative, especially for medium-to-high levels of ability, except for attention and spatial orientation subtests, which consistently yielded the highest discriminative capability. DISCUSSION: The Itel-MMSE appears to be most informative in low-performing healthy individuals. However, the present findings should not lead practitioners to aprioristically equate ceiling effects/low informativity to clinical uselessness. Items assessing attention and, to a lesser extent, spatial orientation appear to be the most informative.

Diagnostic properties of the Frontal Assessment Battery (FAB) in Italian healthy adults.

BACKGROUND: Sub-clinical cognitive efficiency deficits of a dysexecutive nature are moderately prevalent in healthy older adults and negatively affect their functional outcomes. To screen for such dysfunctions, the Frontal Assessment Battery (FAB) provided promising evidence, although its diagnostic properties have not been tested to date. This study thus aimed at exploring the performance on the FAB of a large sample of Italian healthy adults and comparing it in individuals aged < 75 years vs. ≥ 75 years. METHODS: Four hundred and seventy-five healthy adults (169 males, 306 females, age: 61.1 ± 15.1; education 11.7 ± 4.6) were administered the FAB and the Montreal Cognitive Assessment (MoCA). Sensitivity, specificity, positive and negative predictive values and likelihood ratios were computed through receiver-operating characteristics analyses by addressing an above- vs. below-cutoff performance on the MoCA as the state variable (as including measures of executive functioning). RESULTS: The FAB overall showed good accuracy (AUC = 0.71-0.76), although higher for healthy older adults. A trend towards higher specificity (64.4-80.3%) than sensitivity (61.1-77.8%) was found, despite these metrics being comparable in healthy older adults. Negative predictive values (0.98-0.99) were systematically higher than positive predictive values (0.05-0.24), whereas consistent post-test probabilities were detected (positive likelihood ratios: 2.19-3.35; negative likelihood ratios: 0.28-0.48). DISCUSSION: The FAB is an accurate test for the first-level assessment of dysexecutive-related global cognitive inefficiency in the general population, despite being moderately conservative as far as both its pre- and post-test features are concerned. Its diagnostic value is more informative for individuals aged ≥ 75 years.

The Montreal Cognitive Assessment (MoCA): updated norms and psychometric insights into adaptive testing from healthy individuals in Northern Italy.

BACKGROUND: The availability of fine-grained, culture-specific psychometric outcomes can favor the interpretation of scores of the Montreal Cognitive Assessment (MoCA), the most frequently used instrument to screen for mild cognitive dysfunctions in both instrumental and non-instrumental domains. This study thus aimed at providing: (i) updated, region-specific norms for the Italian MoCA, by also (ii) comparing them to pre-existing ones with higher geographical coverage; (iii) information on sensitivity and discriminative capability at the item level. METHODS: Five hundred and seventy nine healthy individuals from Northern Italy (208 males, 371 females; age: 63.4 ± 15, 21-96; education: 11.3 ± 4.6, 1-25) were administered the MoCA. Item Response Theory (IRT) was adopted to assess item difficulty and discrimination. Normative values were derived by means of the Equivalent Scores (ESs) method, applied to the MoCA and its sub-scales. Average ESs were also computed. Agreement with previous ESs classification was assessed via Cohen's k. RESULTS: Age and education significantly predicted all MoCA measures except for Orientation, which was related to age only. No sex differences were detected when tested along with age and education. Substantial disagreements with previous ESs classifications were detected. Several items proved to be scarcely sensitive, especially the place item from Orientation and the letter detection task. Memory items showed high discriminative capability, along with certain items assessing executive functions and orientation. DISCUSSION: Item-level information herewith provided for the Italian MoCA can help interpret its scores by Italian practitioners. Italian practitioners should consider an adaptive use of region-specific norms for the MoCA.

An immunometabolic pathomechanism for chronic obstructive pulmonary disease.

Chronic obstructive pulmonary disease (COPD) is an inflammatory condition associated with abnormal immune responses, leading to airflow obstruction. Lungs of COPD subjects show accumulation of proinflammatory T helper (Th) 1 and Th17 cells resembling that of autoreactive immune responses. As regulatory T (Treg) cells play a central role in the control of autoimmune responses and their generation and function are controlled by the adipocytokine leptin, we herein investigated the association among systemic leptin overproduction, reduced engagement of glycolysis in T cells, and reduced peripheral frequency of Treg cells in different COPD stages. These phenomena were also associated with an impaired capacity to generate inducible Treg (iTreg) cells from conventional T (Tconv) cells. At the molecular level, we found that leptin inhibited the expression of forkhead-boxP3 (FoxP3) and its splicing variants containing the exon 2 (FoxP3-E2) that correlated inversely with inflammation and weakened lung function during COPD progression. Our data reveal that the immunometabolic pathomechanism leading to COPD progression is characterized by leptin overproduction, a decline in the expression of FoxP3 splicing forms, and an impairment in Treg cell generation and function. These results have potential implications for better understanding the autoimmune-like nature of COPD and the pathogenic events leading to lung damage.

B4GALT1 as a New Biomarker of Idiopathic Pulmonary Fibrosis.

Idiopathic pulmonary fibrosis (IPF) is a disease characterized by progressive scarring of the lung that involves the pulmonary interstitium. The disease may rapidly progress, leading to respiratory failure, and the long-term survival is poor. There are no accurate biomarkers available so far. Our aim was to evaluate the expression of the B4GALT1 in patients with IPF. Analysis of B4GALT1 gene expression was performed in silico on two gene sets, retrieved from the Gene Expression Omnibus database. Expression of B4GALT1 was then evaluated, both at the mRNA and protein levels, on lung specimens obtained from lung biopsies of 4 IPF patients, on one IPF-derived human primary cell and on 11 cases of IPF associated with cancer. In silico re-analysis demonstrated that the B4GALT1 gene was overexpressed in patients and human cell cultures with IPF (p = 0.03). Network analysis demonstrated that B4GALT1 upregulation was correlated with genes belonging to the EMT pathway (p = 0.01). The overexpression of B4GALT1 was observed, both at mRNA and protein levels, in lung biopsies of our four IPF patients and in the IPF-derived human primary cell, in other fibrotic non-lung tissues, and in IPF associated with cancer. In conclusion, our results indicate that B4GALT1 is overexpressed in IPF and could represent a novel marker of this disease.

High-level language competencies and Theory of Mind in a group of children with Klinefelter syndrome.

Klinefelter syndrome (KS) is a genetic anomaly involving the presence of one or more supernumerary X chromosomes in male individuals. In the cognitive profile of these individuals, strengths are found in nonverbal abilities, whereas weaknesses are observed in executive function, language, and academic performance. Our study is based on a comparison between eight children diagnosed with KS (47,XXY) (age range: 9-13 years; IQ range: 80-123), with no delay in language development, and eight typically developing (TD) controls. We explored a range of high-level language competencies and Theory of Mind (ToM) in addition to basic language competency. High-level language competencies were assessed by a battery that measures pragmatic language skills and a metaphor comprehension test (MCT). To assess ToM, we administered the corresponding subtest of the NEPSY II. Basic language competence was assessed by the NEPSY II Comprehension of Instructions subtest. Although basic language performance did not differentiate the individuals with KS from the TD controls, relevant differences appeared in some of the high-level language competencies as well as in the ToM task. All tasks in which the individuals with KS performed less well were characterized by complex inferential processes. Some possible clinical and educational implications are discussed.

Quantitative Ultrasound of Proximal Phalanxes in Childhood Acute Lymphoblastic Leukemia Survivors.

Reduced bone mineral density (BMD) is a well-known complication in childhood acute lymphoblastic leukemia (ALL) survivors; the optimal method to assess BMD is still debated. We studied BMD by quantitative ultrasound (QUS) in 72 ALL survivors, and evaluated any correlation with cumulative doses of steroids and cytotoxic agents. Mean age at diagnosis was 61±45 months, while mean age at QUS was 318.3±129.6 months; mean period of follow-up was 41.2±37.8 months. Mean amplitude-dependent speed of sound z-score was -1.22±1.19. Ten survivors (13.8%) presented a z-score below -2 SD. A negative correlation was found between amplitude-dependent speed of sound z-score and age at diagnosis (P=0.01). A positive correlation was observed with length of follow-up (P=0.01). No correlation was found with cytotoxic drugs. This study represents the largest cohort of childhood ALL survivors studied by QUS. Our results suggest that QUS for its characteristics of being radiation free may be an effective option to assess BMD in pediatric age. In addition, our data outline the importance to improve the awareness about the specific expression of this complication in the pediatric age, concerning the major determinants of bone impairment, which are the disease itself and the phase of bone growth when the disease occurs.

Transoral video assisted thyroidectomy: a systematic review.

INTRODUCTION: The aim of this study is to perform a review of the English-language international literature concerning thyroid surgery performed through the transoral vestibular approach, to evaluate its flessibility and safety in terms of complications. MATERIALS AND METHOD: The review was carried out on 17 studies of 17 different Authors. The following variables were taken into consideration: first Author's name, nationality, year of publication, number of cases, hospital stay, conversion rate, type of surgical approach, total number of total thyroidectomies and loboisthmectomies, operative time range, intraoperative blood loss range, number and percentage of complications. RESULTS: 736 procedures were performed: 289 total thyroidectomies and 447 loboisthmectomies. Surgical approach was trivestibular in 15 cases and combined (oro-vestibular) in 2 cases. The operative time varies from 43 minutes for a loboisthmectomy to 345 for a total thyroidectomy. Intraoperative blood loss ranges from 3 to 300 ml. Ten cases were converted into open surgery. The hospital stay varies from 1 to 10 days. Complications were: transient recurrent laryngeal nerve palsy in 34 cases, permanent in 2 cases; transient hypoparathyroidism in 62 cases. One case of postoperative bleeding, 22 postoperative seroma, 20 cases of mental nerve injury, 8 cases of operative wound infection. CONCLUSIONS: Transoral endoscopic thyroidectomy vestibular approach (TOETVA) is a new surgical method, the use of which exclusively meets the aesthetic needs of some patients. Its specific complication is the injury of the mental nerves. Further studies, however, seem to be necessary, on numerically broader cases, to ascertain the real validity of the method.