Search

Semantic variant primary progressive aphasia is a clinical syndrome characterized by marked semantic deficits, anterior temporal lobe atrophy and reduced connectivity within a distributed set of regions belonging to the functional network associated with semantic processing. However, to fully depict the clinical signature of semantic variant primary progressive aphasia, it is necessary to also characterize preserved neural networks and linguistic abilities, such as those subserving speech production. In this case-control observational study, we employed whole-brain seed-based connectivity on task-free MRI data of 32 semantic variant primary progressive aphasia patients and 46 healthy controls to investigate the functional connectivity of the speech production network and its relationship with the underlying grey matter. We investigated brain-behaviour correlations with speech fluency measures collected through clinical tests (verbal agility) and connected speech (speech rate and articulation rate). As a control network, we also investigated functional connectivity within the affected semantic network. Patients presented with increased connectivity in the speech production network between left inferior frontal and supramarginal regions, independent of underlying grey matter volume. In semantic variant primary progressive aphasia patients, preserved (verbal agility) and increased (articulation rate) speech fluency measures correlated with increased connectivity between inferior frontal and supramarginal regions. As expected, patients demonstrated decreased functional connectivity in the semantic network (dependent on the underlying grey matter atrophy) associated with average nouns' age of acquisition during connected speech. Collectively, these results provide a compelling model for studying compensation mechanisms in response to disease that might inform the design of future rehabilitation strategies in semantic variant primary progressive aphasia.

L’influenza è una malattia respiratoria acuta con un considerevole impatto dal punto di vista epidemiologico, clinico ed economico. L'infezione da RSV causa sintomi simil-influenzali e può portare a gravi complicazioni nei bambini e negli adulti ad alto rischio quali anziani, con patologie croniche o immunocompromessi. Nonostante la diagnosi basata sui sintomi sia accurata, test diagnostici specifici possono essere fondamentali per confermare l'infezione virale. La maggior parte dei test si basano sulla tecnologia RT-PCR. Questa metodica richiede una precedente estrazione degli acidi nucleici virali a partire dal campione clinico ma l’estrazione è un processo lungo che può richiedere laboratori attrezzati. La tecnologia LAMP (Loop Mediated Isothermal AMPlification) è veloce e richiede l’uso di strumentazione semplice. LAMP, diversamente da PCR, utilizza una polimerasi con attività strand displacement e 6 primers, che riconoscono 8 regioni diverse. Nei laboratori DiaSorin è stata ulteriormente implementata dando origine a RT Q-LAMP: l’utilizzo di un enzima in grado sia di retro-trascrivere che di amplificare il target è stato accoppiato all’utilizzo di sonde fluorescenti (Q-probes), la cui riduzione del segnale indica il rilevamento del target. Fluorofori diversi inoltre permettono di discriminare in tempo reale più targets contemporaneamente. Con il presente progetto di tesi, è stato sviluppato un test RT Q-LAMP in grado di rilevare e discriminare i virus influenzali A, B e RSV. Sia la retro-trascrizione che l'amplificazione vengono eseguite in un unico passaggio senza che l’acido nucleico virale debba essere precedentemente estratto dal campione clinico. In questo modo si può ottenere un risultato in meno di 60 minuti utilizzando direttamente tamponi nasali o nasofaringei come campioni di partenza. RT Q-LAMP è eseguita grazie ad un termociclatore compatto, sviluppato da DiaSorin e chiamato Liaison MDX. Reagenti e campioni vengono caricati su un disco di, Despite decades of surveillance and interventions, influenza viruses still represent a public health concern. Respiratory syncytial virus (RSV) also infects the respiratory system and can cause an influenza-like illness in infants, toddlers and in high-risk adults. During epidemics, despite good accuracy of diagnosis based on clinical presentation, specific diagnostic tests are required to confirm virus-specific infection. PCR-based assays are commonly used, requiring prior extraction of viral genomes to be amplified. This process is time consuming, needing skilled staff and equipped laboratories. LAMP (Loop Mediated Isothermal AMPlification) can solve several of these problems, as it is faster, precise, sensitive and specific. This isothermal DNA amplification method relies on the use of a thermostable DNA polymerase with strand displacement activity and six primers specifically designed to recognize eight distinct regions on the target gene. In DiaSorin the technology was improved giving rise to RT Q-LAMP: the coupling of reverse-transcription and amplification activity in one enzyme and the use of fluorescent probes (Q-probes) allows the real time detection and discrimination of multiple RNA targets. Therefore, the aim of this study is to develop a RT Q-LAMP assay in a multiplex strategy, targeting conserved regions of influenza A, B and RSV viruses to differentially diagnose these infections. Both reverse-transcription and amplification are performed in a single-step from unprocessed clinical specimens, represented by nasal or nasopharyngeal swabs (NPS), without viral nucleic acid extraction, allowing clinicians to obtain results in less than 60 minutes. RT Q-LAMP is performed thanks to Liaison MDX, a small and easy-to use thermocycler, used with its disposable disc named “Direct Amplification Disc” (DAD) which allows the amplification of non-extracted samples, thanks to the combination of centrifugal force and heat treatment. The so-developed RT Q-LAMP quadrupl

IntroductionPositron emission tomography (PET) amyloid imaging has become an important part of the diagnostic workup for patients with primary progressive aphasia (PPA) and uncertain underlying pathology. Here, we employ a semi-automated analysis of connected speech (CS) with a twofold objective. First, to determine if quantitative CS features can help select primary progressive aphasia (PPA) patients with a higher probability of a positive PET amyloid imaging result. Second, to examine the relevant group differences from a clinical perspective.Methods117 CS samples from a well-characterised cohort of PPA patients who underwent PET amyloid imaging were collected. Expert consensus established PET amyloid status for each patient, and 40% of the sample was amyloid positive.ResultsLeave-one-out cross-validation yields 77% classification accuracy (sensitivity: 74%, specificity: 79%).DiscussionOur results confirm the potential of CS analysis as a screening tool. Discriminant CS features from lexical, syntactic, pragmatic, and semantic domains are discussed.

BackgroundIncreasing evidence shows that the semantic variant of primary progressive aphasia (svPPA) is characterized by hippocampal atrophy. However, less is known about disease-related morphological hippocampal changes. The goal of the present study is to conduct a detailed characterization of the impact of svPPA on global hippocampus volume and morphology compared with control subjects and patients with Alzheimer's disease (AD).MethodsWe measured hippocampal volume and deformation-based shape differences in 22 patients with svPPA compared with 99 patients with AD and 92 controls. Multiple Automatically Generated Templates Brain Segmentation Algorithm (MAGeT-Brain) was used on MRI images obtained at the diagnostic visit.ResultsComparable left and right hippocampal atrophy were observed in svPPA and AD. Deformation-based shape analysis showed a common pattern of morphological deformation in svPPA and AD compared with controls. More specifically, both svPPA and AD showed inward deformations in the dorsal surface of the hippocampus, from head to tail on the left side, and more limited to the anterior portion of the body in the right hemisphere. These results also pointed out that both diseases are characterized by a lateral displacement of the central part (body) of the hippocampus.DiscussionOur study provides critical new evidence of hippocampal morphological changes in svPPA, similar to those found in AD. These findings highlight the importance of considering morphological hippocampal changes as part of the anatomical profile of patients with svPPA.

BackgroundIncreasing evidence shows that the semantic variant of primary progressive aphasia (svPPA) is characterized by hippocampal atrophy. However, less is known about disease-related morphological hippocampal changes. The goal of the present study is to conduct a detailed characterization of the impact of svPPA on global hippocampus volume and morphology compared with control subjects and patients with Alzheimer's disease (AD).MethodsWe measured hippocampal volume and deformation-based shape differences in 22 patients with svPPA compared with 99 patients with AD and 92 controls. Multiple Automatically Generated Templates Brain Segmentation Algorithm (MAGeT-Brain) was used on MRI images obtained at the diagnostic visit.ResultsComparable left and right hippocampal atrophy were observed in svPPA and AD. Deformation-based shape analysis showed a common pattern of morphological deformation in svPPA and AD compared with controls. More specifically, both svPPA and AD showed inward deformations in the dorsal surface of the hippocampus, from head to tail on the left side, and more limited to the anterior portion of the body in the right hemisphere. These results also pointed out that both diseases are characterized by a lateral displacement of the central part (body) of the hippocampus.DiscussionOur study provides critical new evidence of hippocampal morphological changes in svPPA, similar to those found in AD. These findings highlight the importance of considering morphological hippocampal changes as part of the anatomical profile of patients with svPPA.

Intrinsic connectivity networks (ICNs) identified through task-free fMRI (tf-fMRI) offer the opportunity to investigate human brain circuits involved in language processes without requiring participants to perform challenging cognitive tasks. In this study, we assessed the ability of tf-fMRI to isolate reproducible networks critical for specific language functions and often damaged in primary progressive aphasia (PPA). First, we performed whole-brain seed-based correlation analyses on tf-fMRI data to identify ICNs anchored in regions known for articulatory, phonological, and semantic processes in healthy male and female controls (HCs). We then evaluated the reproducibility of these ICNs in an independent cohort of HCs, and recapitulated their functional relevance with a post hoc meta-analysis on task-based fMRI. Last, we investigated whether atrophy in these ICNs could inform the differential diagnosis of nonfluent/agrammatic, semantic, and logopenic PPA variants. The identified ICNs included a dorsal articulatory-phonological network involving inferior frontal and supramarginal regions; a ventral semantic network involving anterior middle temporal and angular gyri; a speech perception network involving superior temporal and sensorimotor regions; and a network between posterior inferior temporal and intraparietal regions likely linking visual, phonological, and attentional processes for written language. These ICNs were highly reproducible across independent groups and revealed areas consistent with those emerging from task-based meta-analysis. By comparing ICNs' spatial distribution in HCs with patients' atrophy patterns, we identified ICNs associated with each PPA variant. Our findings demonstrate the potential use of tf-fMRI to investigate the functional status of language networks in patients for whom activation studies can be methodologically challenging.SIGNIFICANCE STATEMENT We showed that a single, short, task-free fMRI acquisition is able to identify four r

Abtract Objective: The concepts of mild cognitive impairment (MCI) and subjective cognitive decline (SCD) have been proposed to identify individuals in the early stages of Alzheimer's disease (AD), or other neurodegenerative diseases. One approach to validate these concepts is to investigate the relationship between pathological brain markers and cognition in those individuals. Method: We included 126 participants from the Consortium for the Early Identification of Alzheimer's disease-Quebec (CIMA-Q) cohort (67 SCD, 29 MCI, and 30 cognitively healthy controls [CH]). All participants underwent a complete cognitive assessment and structural magnetic resonance imaging. Group comparisons were done using cognitive data, and then correlated with hippocampal volumes and white matter hyperintensities (WMHs). Results: Significant differences were found between participants with MCI and CH on episodic and executive tasks, but no differences were found when comparing SCD and CH. Scores on episodic memory tests correlated with hippocampal volumes in both MCI and SCD, whereas performance on executive tests correlated with WMH in all of our groups. Discussion: As expected, the SCD group was shown to be cognitively healthy on tasks where MCI participants showed impairment. However, SCD's hippocampal volume related to episodic memory performances, and WMH to executive functions. Thus, SCD represents a valid research concept and should be used, alongside MCI, to better understand the preclinical/ prodromal phase of AD.

Abtract Objective: The concepts of mild cognitive impairment (MCI) and subjective cognitive decline (SCD) have been proposed to identify individuals in the early stages of Alzheimer's disease (AD), or other neurodegenerative diseases. One approach to validate these concepts is to investigate the relationship between pathological brain markers and cognition in those individuals. Method: We included 126 participants from the Consortium for the Early Identification of Alzheimer's disease-Quebec (CIMA-Q) cohort (67 SCD, 29 MCI, and 30 cognitively healthy controls [CH]). All participants underwent a complete cognitive assessment and structural magnetic resonance imaging. Group comparisons were done using cognitive data, and then correlated with hippocampal volumes and white matter hyperintensities (WMHs). Results: Significant differences were found between participants with MCI and CH on episodic and executive tasks, but no differences were found when comparing SCD and CH. Scores on episodic memory tests correlated with hippocampal volumes in both MCI and SCD, whereas performance on executive tests correlated with WMH in all of our groups. Discussion: As expected, the SCD group was shown to be cognitively healthy on tasks where MCI participants showed impairment. However, SCD's hippocampal volume related to episodic memory performances, and WMH to executive functions. Thus, SCD represents a valid research concept and should be used, alongside MCI, to better understand the preclinical/ prodromal phase of AD.

Maria Brambati, Enrico Borrelli, Riccardo Sacconi, Francesco Bandello, Giuseppe Querques Ophthalmology Department, San Raffaele University Hospital, Milan, ItalyCorrespondence: Giuseppe QuerquesDepartment of Ophthalmology, University Vita-Salute San Raffaele, Via Olgettina 60, Milan, ItalyTel +390226432648Fax +390226433643Email giuseppe.querques@hotmail.itAbstract: Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium and retina. This disease is caused by mutations in the X-linked CHM gene encoding a Ras-related GTPase Rab escort protein (REP)-1, which is extremely important for the retinal function. Clinically, male-affected patients have a progressive reduction in visual acuity. This disease is formally considered incurable, although new promising treatments have been recently introduced. In this article, a review of the salient pathogenetic features of choroideremia, essential for the proper interpretation of therapeutic approaches, is followed by a discussion of the fundamental clinical features of this hereditary disease. Finally, relevant new therapeutic approaches in this disease will be discussed, including gene therapy, stem cells, small molecules, and retinal prosthesis.Keywords: choroideremia, heredodystrophies, gene, therapy, clinical trials, stem cells, gene therapy, small molecules, retinal prosthesis

Tractography based on non-invasive diffusion imaging is central to the study of human brain connectivity. To date, the approach has not been systematically validated in ground truth studies. Based on a simulated human brain data set with ground truth tracts, we organized an open international tractography challenge, which resulted in 96 distinct submissions from 20 research groups. Here, we report the encouraging finding that most state-of-the-art algorithms produce tractograms containing 90% of the ground truth bundles (to at least some extent). However, the same tractograms contain many more invalid than valid bundles, and half of these invalid bundles occur systematically across research groups. Taken together, our results demonstrate and confirm fundamental ambiguities inherent in tract reconstruction based on orientation information alone, which need to be considered when interpreting tractography and connectivity results. Our approach provides a novel framework for estimating reliability of tractography and encourages innovation to address its current limitations.

© 2017 The Author(s). This paper presents a coastal geomorphology map of some of the Chilean region of the Straits of Magellan, and is based on a combined geomorphological and sedimentological approach applicable to a larger section of the coast. The mapped area is located in Tierra del Fuego between the Segunda Angostura of the Straits of Magellan and Bahía Inútil. A detailed geomorphological map was compiled at a scale of 1:50,000, describing a sequence of 4 marine and transitional (glacio-lacustrine to marine) terrace orders and raised marine shorelines found between 0 and + 20 m. These features are mainly linked to glacio-eustasy and secondarily to Holocene neo-tectonics. This research derives from the interpretation of aerial photographs and remote sensing imagery along with geomorphological-stratigraphic field surveys and geochemical data. The Main Map illustrates an area with dominant palaeo-glacial and glacio-lacustrine morphology with extensive lacustrine deposits and well-developed lake systems characterising the Porvenir region.

Objective. The introduction of computed tomography (CT) has had a very significant impact on patient evaluation and management decisions in the Emergency Department (ED). One of the few published studies demonstrated a positive CT yield in 67% of patients admitted to hospital. The same study demonstrated that in 25% of cases, the CT examination was able to identify a pathological process unidentified by the ED team. Only one study has focused on the evaluation of the variation in patient management that each CT examination is able to achieve. The purpose of our study is to document the impact that CT has on patient diagnosis and management in the ED, employing a large patient series. Materials and methods. The diagnostic and therapeutic impact of CT was evaluated in a consecutive series of 300 patients who were referred to the radiology department for a chest or abdominal CT examination as requested by the emergency physician. Results. The net impact of performing a CT was a change in planned treatment in 202 cases out of 300 (67%) and proceding with the planned treatment in the remaining 98 cases (33%). The only intention to demand a CT examination was significantly bound (p=0.015, confidence interval 0.16 and 0.38) to a change in the planned treatment before CT (as it is established with Mc Nemar test). Discussion. Our study showed that more than 67% of CT reports were able to change the course of treatment planned before CT execution and that in 56% of these cases, the execution of a CT examination was able to generate a major variation in treatment plan

Objective. The introduction of computed tomography (CT) has had a very significant impact on patient evaluation and management decisions in the Emergency Department (ED). One of the few published studies demonstrated a positive CT yield in 67% of patients admitted to hospital. The same study demonstrated that in 25% of cases, the CT examination was able to identify a pathological process unidentified by the ED team. Only one study has focused on the evaluation of the variation in patient management that each CT examination is able to achieve. The purpose of our study is to document the impact that CT has on patient diagnosis and management in the ED, employing a large patient series. Materials and methods. The diagnostic and therapeutic impact of CT was evaluated in a consecutive series of 300 patients who were referred to the radiology department for a chest or abdominal CT examination as requested by the emergency physician. Results. The net impact of performing a CT was a change in planned treatment in 202 cases out of 300 (67%) and proceding with the planned treatment in the remaining 98 cases (33%). The only intention to demand a CT examination was significantly bound (p=0.015, confidence interval 0.16 and 0.38) to a change in the planned treatment before CT (as it is established with Mc Nemar test). Discussion. Our study showed that more than 67% of CT reports were able to change the course of treatment planned before CT execution and that in 56% of these cases, the execution of a CT examination was able to generate a major variation in treatment plan

With event-related functional MRI (fMRI) and with behavioral measures we studied the brain processes underlying the acquisition of native language literacy. Adult dialect speakers were scanned while reading words belonging to three different conditions: dialect words, i.e., the native language in which subjects are illiterate (dialect), German words, i.e., the second language in which subjects are literate, and pseudowords. Investigating literacy acquisition of a dialect may reveal how novel readers of a language build an orthographic lexicon, i.e., establish a link between already available semantic and phonological representations and new orthographic word forms. The main results of the study indicate that a set of regions, including the left anterior hippocampal formation and subcortical nuclei, is involved in the buildup of orthographic representations. The repeated exposure to written dialect words resulted in a convergence of the neural substrate to that of the language in which these subjects were already proficient readers. The latter result is compatible with a "fast" brain plasticity process that may be related to a shift of reading strategies.

An in vivo anatomic study of gray matter volume was performed in a group of familial dyslexic individuals, using an optimized method of voxel-based morphometry. Focal abnormalities in gray matter volume were observed bilaterally in the planum temporale, inferior temporal cortex, and cerebellar nuclei, suggesting that the underlying anatomic abnormalities may be responsible for defective written language acquisition in these subjects.

© 2015 Published by Elsevier Inc.The present study investigated the pattern of longitudinal changes in cognition and anatomy in three variants of primary progressive aphasia (PPA). Eight patients with the non-fluent variant of PPA (nfvPPA), 13 patients wit

© 2015 Published by Elsevier Inc.The present study investigated the pattern of longitudinal changes in cognition and anatomy in three variants of primary progressive aphasia (PPA). Eight patients with the non-fluent variant of PPA (nfvPPA), 13 patients wit

Acute rheumatic fever (ARF) is a postinfectious, nonsuppurative sequela of pharyngeal infection caused by Streptococcus pyogenes, or Group A β hemolytic Streptococcus (GABHS). Of the associated symptoms, only damage to the heart’s valvular tissue, or rheumatic heart disease (RHD), can become a chronic condition leading to congestive heart failure, stroke, endocarditis, and death. ARF is the most common cause of cardiac disease in children in developing countries. A joint meeting of the World Health Organization and the International Society estimated that 12 million people in developing countries were affected by acute rheumatic fever and rheumatic heart disease, with the majority of these being children. This level of morbidity is comparable to developed countries’ in the last century, before an increase in the standard of living and the introduction of penicillin. Significant trivalvular disease, involving the mitral, aortic and tricuspid valves, is uncommon. Although rare, trivalvular disease has been described in the literature. Clinical and hemodynamic manifestations depend on the severity of each lesion. We reported this case because of the rare presentation of an uncommon disorder and to highlight the fact that the presence of trivalvular disease can be difficult to diagnose, even for a trained physician.

Background. Hyperleukocytosis is defined as a white blood cell (WBC) count in excess of 100,000 per mm3. Hyperleukocytosis can cause leukostasis syndrome, the accumulation of leukemic blast cells within the capillary lumen, resulting in neurologic and pulmonary manifestations that can lead to intracranial haemorrhage and respiratory failure. Objective. Identify a correct diagnostic approach, as the diagnosis of leukostasis in a patient suffering from acute leukemia with hyperleukocytosis is made only clinically. A full blood cell count and a peripheral blood smear are essential for diagnosing leukostasis. Case report. A 19 year old girl presented to the emergency department reporting onset of headache, absence of regression of symptoms after taking painkillers (non steroidal anti inflammatory drugs (NSAIDs)), intense fatigue and absence of fever. On examination, modest hypotension and anisocoria (with reactive pupils) were evidenced. A brain computed tomography (CT) scan was performed. Several, large areas of parenchymal haemorrhage were identified. A chest and abdomen CT scan was requested. The images demonstrated the presence of splenomegaly. The laboratory findings confirmed the suspected diagnosis, with a leukocyte count equal to 980,000 units per mm3 and a platelet count of 24,000 units per mm3. Conclusion. Given the clinical case and its evolution, no report of recent onset of headache, especially in young patients, should be underestimated.

Background. Hyperleukocytosis is defined as a white blood cell (WBC) count in excess of 100,000 per mm3. Hyperleukocytosis can cause leukostasis syndrome, the accumulation of leukemic blast cells within the capillary lumen, resulting in neurologic and pulmonary manifestations that can lead to intracranial haemorrhage and respiratory failure. Objective. Identify a correct diagnostic approach, as the diagnosis of leukostasis in a patient suffering from acute leukemia with hyperleukocytosis is made only clinically. A full blood cell count and a peripheral blood smear are essential for diagnosing leukostasis. Case report. A 19 year old girl presented to the emergency department reporting onset of headache, absence of regression of symptoms after taking painkillers (non steroidal anti inflammatory drugs (NSAIDs)), intense fatigue and absence of fever. On examination, modest hypotension and anisocoria (with reactive pupils) were evidenced. A brain computed tomography (CT) scan was performed. Several, large areas of parenchymal haemorrhage were identified. A chest and abdomen CT scan was requested. The images demonstrated the presence of splenomegaly. The laboratory findings confirmed the suspected diagnosis, with a leukocyte count equal to 980,000 units per mm3 and a platelet count of 24,000 units per mm3. Conclusion. Given the clinical case and its evolution, no report of recent onset of headache, especially in young patients, should be underestimated.

hough neuroimaging, pathology and pathophysiology suggest a subcortical and deep cortical involvement in Frontotemporal Lobar Degeneration (FTLD), no studies have comprehensively assessed the associated gray matter (GM) volume changes. We measured caudate, putamen, thalamus, and amygdala GM volume using probabilistic a-priori regions of interest (ROIs) in 53 early FTLD patients (38 behavioral variant FTD [bvFTD], 9 Semantic Dementia [SD], 6 Progressive Non-Fluent Aphasia [PNFA]), and 25 age-matched healthy controls (HC). ANOVA showed significant (P<0.001) main effect of diagnosis, and significant interactions for diagnosis and region, and diagnosis and hemisphere. Post-hoc comparisons with HC showed bilateral GM atrophy in the caudate, putamen and thalamus, in bvFTD; a left-confined GM reduction in the amygdala in SD; and bilateral GM atrophy in the caudate and thalamus, and left-sided GM reduction in the putamen and amygdala in PNFA. Correlation analyses suggested an association between GM volumes and language, psychomotor speed and behavioral disturbances. This study showed a widespread involvement of subcortical and deep cortical GM in early FTLD with patterns specific for clinical entity.

Background: Data on white matter changes in corticobasal degeneration syndrome (CBDS) are not yet available, whereas cortical gray matter loss is a feature of this condition. The structural abnormalities related to a key feature of CBDS (limb apraxia) are unknown. Objectives: To measure selective structural changes in early CBDS using diffusion tensor imaging and voxel-based morphometry and to evaluate the structural correlates of limb apraxia. Design: Patient and control group comparison. Setting: Referral center for dementia and movement disorders. Participants: Twenty patients with CBDS and 21 matched control subjects. Interventions: Clinical and standardized neuropsychological evaluations, including assessment of limb apraxia. Main Outcome Measures: Gray and white matter changes in early CBDS. Results: Diffusion tensor imaging revealed decreases in fractional anisotropy in the long frontoparietal connecting tracts, the intraparietal associative fibers, and the corpus callosum. Fractional anisotropy was also reduced in the sensorimotor projections of the cortical hand areas. Voxel-based morphometry showed a prevalent gray matter reduction in the left hemisphere (in the inferior frontal and premotor cortices, parietal operculum, superotemporal gyrus, and hippocampus). The pulvinar, bilaterally, and the right cerebellar cortex also showed atrophy. Limb apraxia correlated with parietal atrophy and with fractional anisotropy reductions in the parietofrontal associative fibers (P<.01). The limb-kinetic component of apraxia correlated with reduction of hand sensorimotor connecting fibers. Conclusions: The present integrative approach to in vivo structural anatomy combines hodologic imaging, describing patterns of white matter connections between cortical areas, with neuropsychological data. This provides new evidence of gray matter and fiber tract abnormalities in early-phase disease and contributes to clarifying the neural basis of apraxia in CBDS. ©2008 American M

Background: Two major clinical variants of frontotemporal dementia (FTD) have been described: frontal variant (fvFTD) and temporal variant (tvFTD). Objective: To analyze white matter (WM) and gray matter (GM) tissue organization in patients with fvFTD and tvFTD by means of diffusion tensor imaging and voxel-based morphometry, and the correlations with neuropsychological and behavioral variables. Design and Setting: Frontotemporal dementia clinic-based cohort and structural magnetic resonance imaging acquisition for voxel-based morphometry and diffusion tensor imaging measurements. Abnormalities were detected by a comparison with healthy control subjects. These variables were also correlated with clinical scores. Patients: Thirty-six patients (28 with fvFTD and 8 with tvFTD) in early disease stage and 23 healthy controls who underwent standardized clinical and neuropsychological evaluation and magnetic resonance imaging. Interventions: Diffusion tensor imaging and voxel-based morphometry. Main Outcome Measures: Neuroimaging analyses resulted in localized GM atrophy and reductions of white matter densities; the latter correlated with behavioral scores. Results: Voxel-based morphometry analysis showed separate patterns of GM atrophy in the 2 groups. Diffusion tensor imaging showed different WM reduction patterns in patients with fvFTD and tvFTD. The fvFTD group showed a selective WM reduction in the superior longitudinal fasciculus, interconnecting the frontal and occipital and the temporal and parietal regions. Conversely, patients with tvFTD were characterized by WM reductions in the inferior longitudinal fasciculus, which affected the connections between anterior temporal and frontal regions. The WM reductions in fvFTD paralleled both behavioral disturbances measured by Frontal Behavioral Inventory and neuropsychological deficits affecting frontal functions. Conclusions: The fvFTD and tvFTD variants are associated not only with selective local GM reductions but also

Background: A comprehensive characterisation of grey and white matter changes in progressive supranuclear palsy (PSP), the second most common extrapyramidal syndrome after Parkinson disease, is still not available. Objective: To evaluate grey and white matter changes in mild PSP patients by voxel based morphometry (VBM) and diffusion tensor imaging (DTI), respectively. Methods: 14 mild PSP patients and 14 healthy controls entered the study and underwent a clinical and neuropsychological evaluation according with a standardised assessment. Each subject had a structural magnetic resonance imaging (MRI) study. Processing analysis of MRI data was carried out according to optimised VBM and fractional anisotropy was determined. Results: Compared with the controls, in PSP patients VBM analysis showed a significant clusters of reduced grey matter in premotor cortex, frontal operculum, anterior insula, hippocampus, and parahippocampal gyrus, bilaterally. With regard to subcortical brain regions, the pulvinar, dorsomedial and anterior nuclei of the thalamus, and superior and inferior culliculum were affected bilaterally. A bilateral decrease in fractional anisotropy in superior longitudinal fasciculus, anterior part of corpus callosum, arcuate fascicolus, posterior thalamic radiations, and internal capsule, probably involving the cortico-bulbar tracts, was present in PSP patients. Conclusions: These data provide evidence for both grey and white matter degeneration in PSP from the early disease stage. These structural changes suggest that atrophy of cortical and subcortical structures and neurodegeneration of specific fibre tracts contribute to neurological deficits in PSP.

We assessed the effects of age of acquisition and language exposure on the cerebral correlates of lexical retrieval in high-proficient, early-acquisition bilinguals. Functional MRI was used to study Spanish-Catalan bilinguals who acquired either Spanish or Catalan as a first language in the first years of life. Subjects were exposed to the second language at 3 years of age, and have used both languages in daily life since then. Subjects had a comparable level of proficiency in the comprehension of both languages. Lexical retrieval with the verbal fluency task resulted in the well-established pattern of left hemispheric activation centered on the inferior frontal region. The effect of age of acquisition was assessed by dividing the subjects into two groups, on the basis of the language acquired first (Catalan-born or Spanish-born bilinguals). Functional comparisons indicated that less extensive brain activation was associated with lexical retrieval in the language acquired earlier in life. The two groups were also different in language usage/exposure, as assessed with a specific questionnaire; in particular, the exposure to the second language (Spanish) was less intensive in the case of Catalans. This was reflected in a significant interaction, indicating a more extensive activation in Catalans during production in Spanish. Overall, these results indicate that, during a production task, both age of acquisition and language exposure affect the pattern of brain activation in bilinguals, even if both languages are acquired early and with a comparable level of proficiency.

We report a case of an 85-year-old white man with a diffuse form of psoriasis, who showed a large asymptomatic subcutaneous tumour in the sacrococcygeal region. On cut section there was a subcutaneous neoplasia with a glistening, friable surface. Histologically, the deep dermis was infiltrated by cords and nests of pleomorphic cells embedded in an abundant mucinous stroma, and characteristic physaliphorous (multi-vacuolated) cells were observed. The neoplastic cells were immunohistochemically positive for cytokeratins (using CAM 5.2 and AE1/AE3), vimentin, 100 protein, and epithelial membrane antigen (EMA), but negative for carcinoembryonic antigen (CEA). Histological and immunohistochemical findings led us to the diagnosis of classic chordoma. Chordomas are rare, slow growing malignant tumours of the spinal axis originating from remnants of the notochord. Occasionally, a skin lesion is the first sign of a primitive or metastatic chordoma

Item does not contain fulltext

Item does not contain fulltext

Item does not contain fulltext

Item does not contain fulltext

Item does not contain fulltext

The authors suggest a geodynamic model of NE Italy with the support of a structural model, neotectonic activity and geophysical data. The model supposes a northward intracrustal underthrusting in the Veneto-Friuli plain. On the basis of these data a seismological analysis is proposed to identify areas seismogenetically homogeneous.-Authors

The Isonzo river mouth has been a source of Hg in the Gulf since the 16th century, heavily contaminating the shallow, semi-landlocked basin.The occurrence and behaviour of total Hg and related size fractions in sediments was investigated in detail. Contents of Hg are very high along the littoral zone of the northern (Italian) sector, where it is present as detrital cinnabar in sandy-silty sediments near the river mouth and surrounding beaches. Within the sediments of the Gulf area, Hg is either bound to fine particles or adsorbed on the surface of clay minerals and partially complexed by colloids and organic matter. Hg contents in a 70 cm sediment core reached a maximum of 25 times the proposed regional background; the vertical trend correlated well with past Hg extraction at the Idrija mine., The Isonzo river mouth has been a source of Hg in the Gulf since the 16th century, heavily contaminating the shallow, semi-landlocked basin.The occurrence and behaviour of total Hg and related size fractions in sediments was investigated in detail. Contents of Hg are very high along the littoral zone of the northern (Italian) sector, where it is present as detrital cinnabar in sandy-silty sediments near the river mouth and surrounding beaches. Within the sediments of the Gulf area, Hg is either bound to fine particles or adsorbed on the surface of clay minerals and partially complexed by colloids and organic matter. Hg contents in a 70 cm sediment core reached a maximum of 25 times the proposed regional background; the vertical trend correlated well with past Hg extraction at the Idrija mine.