The Impact of Age and Duration of Cochlear Implant in a Congenital Deaf Population: An ERP Study

Objective: It is well known that patients with Cochlear Implant (CI) have a large inter-individual variability in linguistic and auditory performances. This can be related to individual auditory processing abilities and integrity of auditory system from auditory nerve to cerebral cortex. P300 can be used for the evaluation of central auditory functions in people with hearing loss and CI. No studies considered the P300 in the population of prelingually deafened adults that underwent CI in old age. The aim of this study is to assess Event Related Potential (ERP) in patients with congenital profound hearing loss with early or late implantation and evaluate these results respect to an age-matched normal hearing group. Methods: ERPs (N100, N200 and P300) and auditory benefit testing (pure tone average and speech audiometric test) and auditory perception testing (Categories of Auditory Performance\u2014CAP) were evaluated in all subjects with their device. Results: All mean latencies (N100, N200 and P300) were found greater in patients group compared to control group. When analyzing all measures in patient group, we did not find any significant differences according to age of implant while significant difference (p > 0.05) in N100 amplitude (p = 0.045) and P300 latency (p = 0.035) were found according to time of CI use. A linear correlation between N200 and P300 latency in control and patients groups was found. Conclusion: In summary, ERPs analysis in the evaluation of CI showed a great importance of long use of the device in addiction to an early time of implant

Studio Multidisciplinare sulle complicanze neurologiche in bambini affetti da Anemia Falciforme Valutazione con metodiche Ultrasonografiche, Neuroradiologiche, test Neuropsicologici e Neurofisiologici

ABSTRACT Sickle cell disease (SCD) is a genetic disorder caused by abnormal haemoglobin that damages and deforms red blood cells. Sickle cell anemia (SCA) is the most severe form of SCD developing when two sickle genes are inherited (homozygotic HbSS) . Sickle cell disease is in the world, the most common genetic disease. Each year more than 300,000 children are born with SCD, mainly in Africa, India and Albania (data WHO 2008). The SCA is an increasing global health problem (Weatherall DJ 2001) . Neurologic complications are frequent among the most serious and disabling. Stroke is a frequent complication of SCD. Approximately 11% of children have a clinical stroke before 20 years of age (Ohene-Frempong K. 1998) and another 35% have a silent infarcts on magnetic resonance imaging (Pegelow C. 2002) with serious sequelae psycho-cognitive and learning difficulties (Schatz J 2002). Screening programs for stroke prevention in SCD children have been implemented using Transcranial Doppler (TCD) (Adams R. 1998) by STOP study and SPREAD guidelines.TCD can measure flow velocities in the large intracranial arteries; long term prospective studies have demonstrated the validity of TCD in identifying children at risk of stroke due to increased cerebral velocities. A blood flow velocity > 200 cm/s in the middle cerebral artery (MCA), correlates with a high risk of stroke in cohorts of African-american HbS/HbS patients (STOP study Adams 1998-2000). The risk is reduced by 90% if those patients are receiving chronic transfusion therapy (STOP2). Another study, using MRI, revealed the prevalence of silent infarcts in school-aged children with homozygous but without associated focal neurological symptoms (Pegelow et al. 2002). Silent cerebral infarcts are increasingly recognized as a major cause of school problems, lower intelligence quotient (IQ) and other neurocognitive deficits. The effect of increased tissue injury in children with sickle cell disease and silent cerebral infarcts is not known. The purpose of the research was to examine the various aspects of the problem of management of patients with sickle cell anemia. The assessment of the risk of stroke, silent infarcts and any impairment of cognitive. how to have an early prediction of the fact. These goals require a necessarily multidisciplinary approach to the study. The STOP study has defined the parameters that require treatment (TAMM> 200 cm/s) (SPREAD guidelines): is to be noted that the parameters are based only in non-imaging TCD. The first phase of the present study was devoted to the comparison between the two neurosonological methods of non-imaging and imaging TCD (TCCS and TCD). A cross sectional and a follow up analysis were carried out in a group of children in which both methods were used. This study can support the hypothesis that the TCCS is more suitable for screening in SCD and useful to refine the stroke risk in SCD children. In the second stage we evaluated the hypothesis that the combination of results obtained with the Doppler, AngioRMN and MRI could identify children who developed IS compared to those not developing. Our results In the third step we evaluated the cognitive performance of children with and without IS. Neuropsychological tests were used (Whechsler Intelligence Scales for Children, WISC and Wechsler Preschool and Primary Scale of Intelligence, WPPSI).Finally, the fourth phase has set itself the objective to evaluate any differences in the group with and without IS, from a neurophysiological point of view, through the analysis of P300 LORETA, and a point of view of quantifying the volume and thickness of the cortex and the amount of white matter through the SoftwareFreeSurfer.5 RIASSUNTO La Drepanocitosi, chiamata anche Anemia a Cellule Falciformi (SCD sickle cell disease) è una malattia congenita ed ereditaria dell’emoglobina e rappresenta nel mondo, la più comune malattia genetica. Ogni anno nascono più di 300.000 bambini con SCD, la maggior parte in Africa, India e Albania, secondo i dati dell’OMS nel 2008. La SCD è diventata un problema in crescita a livello mondiale. Le complicanze neurologiche sono frequenti e tra le più serie e disabilitanti. Lo stroke sintomatico accade in circa 11% dei pazienti con SCD prima dei 20 anni (Ohene-Frempong K. 1998) e circa il 35% presenta lesioni silenti alla RMN (Pegelow C. 2002) con relativo coinvolgimento psico-cognitivo e deficit di apprendimento (Schatz J 2002). Programmi di screening per la prevenzione dell’ictus (studio STOP e linee guida SPREAD) sono stati condotti con l’uso del TCD (Adams R. 1998). Il TCD può misurare le velocità di flusso ematico delle grandi arterie della base cranica. Lo studio STOP ha dimostrato la validità del TCD nell’identificare i bambini a rischio stroke: le velocità ematiche > 200 cm/s a livello dell’Arteria Cerebrale Media correlavano con elevato rischio di stroke in una coorte di bambini Afro-americani omozigoti HbS/HbS (STOP study Adams 1998-2000). Il rischio si riduceva del 90% quando questi bambini venivano sottoposti a terapia trasfusionale cronica (STOP2). Altri studi effettuati con uso di RMN, hanno rilevato la prevalenza di Infarti Silenti (I.S.) in bambini con SCD senza sintomi neurologici associati (Pegelow et al. 2002). Gli Infarti Cerebrali Silenti sono responsabili di deficit neuro-cognitivi, basso QI e problemi scolastici. Lo scopo di questa ricerca è stato quello di valutare da un punto di vista multidisciplinare i vari aspetti di coinvolgimeno neurologico in pazienti con SCD. Sono stati quindi utilizzate metodiche Ultrasonografiche (TCD e TCCS) , Neuropsicologiche, Neurofisiologiche, e Neuroradiologiche. La prima parte dello studio ha riguardato la comparazione tra due metodiche Ultrasonografiche : TCCS e TCD: una “cross sectional” e un’analisi di “follow up”. L’obiettivo è stato quello di supportare l’ipotesi che il TCCS possa essere più utile e indicato nello screening per identificare il rischio di stroke nelle SCD 6 La seconda fase si è poi sviluppata nel verificare l’ipotesi che la combinazione dei risultati ottenuti con TCD, Angio-RMN e MRI potesse identificare i bambini che sviluppavano I.S. rispetto a quelli che non li sviluppavano. I nostri risultati non hanno però supportato tale ipotesi. La terza fase è stata quella di valutare le performance cognitive dei bambini con e senza I.S. Sono stati somministrati test Neuropsicologici (Wechsler Intelligence Scales for Children, WISC and Wechsler Preschool and Primary Scale of Intelligence, WPPSI). Il QIP (quoziente intellettivo di Performance) e altri subtest si sono dimostrati significativamente compromessi nel gruppo di bambini SCD con presenza di I.S. Infine l’obiettivo della quarta fase è stato quello di valutare dal punto di vista neurofisiologico (analisi morfologica e di LORETA nella P300) e studio volumetrico della RMN (Free Surfer software) la differenza tra un sottogruppo di pazienti con e senza I.S. e un gruppo di controllo di età sovrapponibile. I generatori della P300 sono stati dimostrati essere gli stessi nel gruppo SCD e nei controlli, senza significativa differenza tra I.S. verso non I.S. Il gruppo SCD ha mostrato il coinvolgimento di più networks corticali e che permanevano attivi più a lungo: ciò suggerisce la probabile presenza di un processo compensativo. Lo studio volumetrico ha evidenziato differenze significative in alcune aree corticali ma non nella regione ippocampale: questo risultato può essere dovuto al fatto che il circolo posteriore risulta meno compromesso nelle SCD

Top-down regulation of left temporal cortex by hypnotic amusia for rhythm: a pilot study on mismatch negativity.

To evaluate the effect of hypnotically induced amusia for rhythm (a condition in which individuals are unable to recognize melodies or rhythms) on mismatch negativity (MMN), 5 highly (HH) and 5 poorly (LH) hypnotizable nonmusician volunteers underwent MMN recording before and during a hypnotic suggestion for amusia. MMN amplitude was recorded using a 19-channel montage and then processed using the low-resolution electromagnetic tomography (LORETA) to localize its sources. MMN amplitude was significantly decreased during hypnotic amusia (p < .04) only in HH, where the LORETA maps of MMN showed a decreased source amplitude in the left temporal lobe, suggesting a hypnotic top-down regulation of activity of these areas and that these changes can be assessed by neurophysiological investigations

Intellectual impairment and TCD evaluation in children with sickle cell disease and silent stroke

Abstract Background Sickle cell disease (SCD) may impair intellectual activity; 25% of SCD patients have a significant cognitive deficit. Our aim was to verify in a cohort of children with HbSS if the presence of silent strokes or altered Time Averaged Mean velocities of Maximum blood flow (TAMM) detected by Transcranial Color Doppler (TCD) Sonography are indicators of impaired intellectual ability. Methods Thirty-five consecutive SCD patients (17 males; mean age: 8.6 ± 3.22) were subdivided into two groups according to neuro-psycological deficits. Cognitive function was assessed by WISC III (for the children aged 6–16 years) and WPPSI (for the children aged 4–6 years). All patients underwent a TCD scan of the main intracranial arteries, in order to detect any increase of TAMM velocities (normal 170 cm/s) and a cerebral MRI to reveal any silent stokes. Results According to the neuro-psycological evaluation, 29/35 (82.8%) patients (Group 1) had a "normal" Total Intelligence Quotient (TIQ ≥70), while 6/35 (17.2%) patients (Group 2) were defined intellectually impaired (TIQ TCD detected altered velocities in 8/35 (22.8%) patients. No significant differences were found in the percentage of altered TAMM velocities between the two groups (Fisher's exact test: p = 0.42). MRI detected silent ischemic lesions in 14/35 patients (40.0%). No significant differences were found in silent stroke frequencies (Fisher's exact test: p = 0.25) between Group 1 and Group 2. Conclusion With the limitations of the study sample, according to our results, altered TAMM values and silent strokes do not seem to be indicators of impaired intellectual ability in SCD patients

Snapshot of the Distribution and Biology of Alien Jellyfish Cassiopea andromeda (Forssk&aring;l, 1775) in a Mediterranean Touristic Harbour

Harbors are hotspots for the introduction of alien species, and, usually, investigations on their host populations help fill the knowledge gap in their pathways of invasion and in their impacts on marine biodiversity and ecosystems. In 2014, the upside-down alien jellyfish Cassiopea andromeda invaded a Mediterranean touristic harbor (&ldquo;Cala&rdquo;), and its abundance has since increased over time. In the present study, the distribution and trophic behavior of C. andromeda in Cala were investigated for the years 2017&ndash;2018 through visual sampling, and GIS-based statistical and stable isotope analyses. Since Cala is a hard-to-reach area (with many anchor cables and boats), Megabenthos Underwater Video was used to count the number and estimate the size of jellyfishes. The variations in size throughout the study period suggest that the population of C. andromeda is quite established in Cala at depths lower than 7.5 m. The ranges of the environmental parameters recorded (temperature, salinity, and transparency) were consistent with the ideal conditions for maintaining a Cassiopea population, but they did not seem to influence aggregation. Additionally, the carbon and nitrogen isotopic signatures studied highlight the mixotrophic behavior of this species. These preliminary results confirm the capacity of C. andromeda to live and reproduce in heavily anthropized areas

Generation and application of signaling pathway reporter lines in zebrafish

In the last years, we have seen the emergence of different tools that have changed the face of biology from a simple modeling level to a more systematic science. The transparent zebrafish embryo is one of the living models in which, after germline transformation with reporter protein-coding genes, specific fluorescent cell populations can be followed at single-cell resolution. The genetically modified embryos, larvae and adults, resulting from the transformation, are individuals in which time lapse analysis, digital imaging quantification, FACS sorting and next-generation sequencing can be performed in specific times and tissues. These multifaceted genetic and cellular approaches have permitted to dissect molecular interactions at the subcellular, intercellular, tissue and whole-animal level, thus allowing integration of cellular and developmental genetics with molecular imaging in the resulting frame of modern biology. In this review, we describe a new step in the zebrafish road to system biology, based on the use of transgenic biosensor animals expressing fluorescent proteins under the control of signaling pathway-responsive cis-elements. In particular, we provide here the rationale and details of this powerful tool, trying to focus on its huge potentialities in basic and applied research, while also discussing limits and potential technological evolutions of this approach

Coagulation Activation in Children with Sickle Cell Disease Is Associated with Cerebral Small Vessel Vasculopathy

BACKGROUND: Thrombotic complications in Sickle Cell Disease (SCD) arise since infancy, but the role of the coagulation system in children has been poorly explored. To determine its role in the development of clinical complications in childhood we measured coagulation and endothelial parameters in children with SCD at steady state. METHODS: Markers of thrombin generation, fibrin dissolution and endothelial activation were evaluated in 38 children with SS-Sβ°, 6 with SC disease and 50 age and blood group matched controls. Coagulation variables were correlated with markers of hemolysis and inflammation, with the presence of cerebral and lung vasculopathy and with the frequency of clinical complications. RESULTS: SS-Sβ° patients presented higher levels of factor VIII, von Willebrand factor antigen (VWF:Ag) and collagen binding activity, tissue plasminogen activator antigen (t-PA:Ag), D-dimer, p-selectin, prothrombin fragment1+2 (F1+2) and lower ADAMTS-13:activity/VWF:Ag (p<0.05) compared to controls and SC patients. In SS-Sβ° patients coagulation variables correlated positively with markers of inflammation, hemolysis, and negatively with HbF (p<0.05). Patients with cerebral silent infarcts showed significant decrease in t-PA:Ag and ADAMTS-13 Antigen and a tendency toward higher D-dimer, F1+2, TAT compared to patients without them. D-dimer was associated with a six fold increased risk of cerebral silent infarcts. No correlation was found between coagulation activation and large vessel vasculopathy or other clinical events except for decreased t-PA:Ag in patients with tricuspid Rigurgitant Velocity >2.5m/sec. CONCLUSIONS: SS-Sβ° disease is associated with extensive activation of the coagulation system at steady state since young age. ADAMTS-13 and t-PA:Ag are involved in the development of cerebral silent infarcts