MR imaging of arrhythmogenic right ventricular dysplasia: What the radiologist needs to know.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart muscle disease that predominantly affects the right ventricle. Clinical manifestations are related to severe ventricular arrhythmia that may lead to sudden death, mostly in young patients. Magnetic resonance imaging (MRI), included in the new diagnostic criteria since 2010, aims to detect segmental and global wall motion abnormalities, reduced ejection fraction, right ventricular dilatation and right ventricular diastolic/systolic dysfunction. An MRI assessment of the right ventricle is often challenging, partly because the MRI diagnostic criteria have some limitations, and also because it requires a significant learning curve due to the low prevalence of the disease. Therefore, this article aims to review the pathophysiology of the disease, the cardiac MRI protocol, images of the various stages of this affection as well as the differential diagnosis.

Spectrotemporal processing drives fast access to memory traces for spoken words.

The Mismatch Negativity (MMN) component of the event-related potentials is generated when a detectable spectrotemporal feature of the incoming sound does not match the sensory model set up by preceding repeated stimuli. MMN is enhanced at frontocentral scalp sites for deviant words when compared to acoustically similar deviant pseudowords, suggesting that automatic access to long-term memory traces for spoken words contributes to MMN generation. Does spectrotemporal feature matching also drive automatic lexical access? To test this, we recorded human auditory event-related potentials (ERPs) to disyllabic spoken words and pseudowords within a passive oddball paradigm. We first aimed at replicating the word-related MMN enhancement effect for Spanish, thereby adding to the available cross-linguistic evidence (e.g., Finnish, English). We then probed its resilience to spectrotemporal perturbation by inserting short (20 ms) and long (120 ms) silent gaps between first and second syllables of deviant and standard stimuli. A significantly enhanced, frontocentrally distributed MMN to deviant words was found for stimuli with no gap. The long gap yielded no deviant word MMN, showing that prior expectations of word form limits in a given language influence deviance detection processes. Crucially, the insertion of a short gap suppressed deviant word MMN enhancement at frontocentral sites. We propose that spectrotemporal point-wise matching constitutes a core mechanism for fast serial computations in audition and language, bridging sensory and long-term memory systems.

Behavioural features of Italian infants and young adults with Williams-Beuren syndrome.

BACKGROUND: The increased interest in social interaction in Williams-Beuren syndrome (WBS) is evident from infancy onwards, together not only with increased empathy, positive interpersonal bias, but also with social disinhibition. Previous studies have described behavioural and emotional problems as being widely represented in WBS. There is limited scope for comparisons between literature data because of the variety of instruments used to assess behaviour. METHOD: Forty-one children and young adults with WBS were enrolled and underwent general cognitive assessment. In order to compare our data with the literature, we used standardised questionnaires used in previous studies (Developmental Behaviour Checklist: DBC-P). General cognitive abilities, gender and age were included in the analysis. RESULTS: Behavioural problems were more relevant than expected according to intellectual impairment. Some features were present at any age: inattention, anxiety, disruptive behaviours. Antisocial conduct was almost absent; perseverative conduct, a poor sense of danger and, more generally, self-absorbed behaviours tended to diminish along with age and to be linked to more pronounced cognitive impairment. CONCLUSION: As previously described for other countries, behaviour disturbances occur frequently in the Italian WBS population. Our data could support the existence of some 'intrinsic' behavioural characteristics in WBS such as inattention and anxiety, which are detectable and important at any age; both learning and social exposure to a structured context such as school could help diminish self-absorbed behaviour.

Development of orofacial praxis of children from 4 to 8 years of age.

Orofacial praxis is the ability to plan and execute movements or sequences of voluntary movements, meaningful or not, using the muscles of the pharyngo-buccofacial system or the orofacial region. An original test was developed, the Orofacial Praxis Test, consisting of 36 gestures, 24 single and 12 complex, elicited through verbal and imitative request. The test was administered to 93 normally developing Italian children ages 4 to 8 yr. to assess development of orofacial praxis. Analysis showed a progressive development of the orofacial praxic ability by type of gesture and examiner's request: (1) the imitation modality is more facilitating than a verbal request modality, especially for children ages 4 or 5 years; (2) a consistent mastery of sequences of gestures and oroverbal movements is in place by age 6 years. The analysis of the orofacial region may be helpful in identifying persistent speech difficulties and developmental coordination disorders.

Greater syntactic impairments in native language in bilingual Parkinsonian patients.

OBJECTIVE: To investigate the presence of syntactic impairments in native language in Parkinson's disease. METHODS: Twelve bilingual patients, with Friulian as their first language (L1) and Italian as their second (L2), with Parkinson's disease and 12 normal controls matched for age, sex, and years of schooling, were studied on three syntactic tasks. RESULTS: Patients with Parkinson's disease showed a greater impairment of L1 than L2. CONCLUSIONS: These findings provide evidence of greater basal ganglia involvement in the acquisition and further processing of grammar in L1 v L2 possibly due to a major involvement of procedural memory in representing L1 grammar.

Long-term neuropsychological deficits after cerebellar infarctions in two young adult twins.

Two young adult dizygotic twins with high schooling suffered two strokes at the ages of 26 and 30 years. On the first occasion, Case 2 suffered a stroke only a few months after Case 1; on the second occasion, Case 1 suffered a second stroke a few months after Case 2. In Case 1, lesions were mainly localized to the left cerebellar hemisphere in both stroke episodes. Case 2 suffered lesions localized to the right cerebellar hemisphere in the first stroke episode, and multiple lesions in both cerebellar hemispheres and the vermis, right pons and left thalamus during the second stroke episode. Seven years after the second stroke, despite full recovery of motor functions, the patients still show mild, yet selective, linguistic deficits (syntactic comprehension deficits, mild agrammatism, reading and writing disorders) without speech disturbances. They also present with selective dysfunctions in visuospatial short-term memory. Language disorders are ascribed to a dysfunction of the cerebellum in Case 1, while in Case 2 a dysfunction of the cerebellum and the thalamus is considered as both structures are part of the so-called 'frontal lobe system', which supports language generation. Visuospatial short-term memory disorders are attributed to an impaired ability to appreciate the organizing structure of the visual task and to poor planning strategies, which are in turn ascribed to cerebellar lesions. The role of the cerebellum in cognitive and linguistic functions is discussed.

Progression of choroidal atrophy in acute posterior multifocal placoid pigment epitheliopathy.

Acute posterior multifocal placoid pigment epitheliopathy is a non-granulomatous chorioretinitis of uncertain origin that occurs in healthy young adults. The prevailing opinion is that the disease has a good long-term prognosis for visual acuity because it is self-limiting and chorioretinal scars do not enlarge with time. A middle-aged adult male who had acute posterior multifocal placoid pigment epitheliopathy in one eye has been followed for 22 years. After apparent clinical healing of the placoid epithelial lesions, widespread severe choroidal atrophy with visual loss occurred and progressed over years without interruption. To our knowledge this is the second report of progressive deterioration of a supposedly self-limiting chorioretinal disease.

Immunocompetence in lung cancer patients: analysis of serological and cellular parameters.

Some serological (serum immunoglobulins, circulating immune complexes, quantitative assessment of hemolytic complement activity) and cellular (total number of circulating lymphocytes as well their phenotypic and functional characterization) parameters have been analyzed in 42 patients with lung cancer of three hystologic types and in 19 healthy controls to define whether different histologic neoplasms have an impact on the host immune system. As a group, cancer patients showed 1) the presence of circulating immune complexes, in a significant percentage, within all the three groups studied; and 2) a significant reduction of lymphocytes forming E rosette. With regard to cellular immune parameters we noted that 1) T lymphocytes isolated from the peripheral blood lymphocytes (PBL) of patients with lung cancer showed a decreased capacity to express HLA-class II antigens upon phytohemogglutinin (PHA) activation in vitro; 2) PBL from lung cancer, in particular the adenocarcinoma group, failed to proliferate upon stimulation by policlonal mitogens; and 3) the autologous mixed lymphocyte reaction (MLR) of non-T/T-type was impaired in all three groups, whereas the autologous MLR of T/T-type was impaired only in the patients with squamous cell carcinoma and in those with adenocarcinoma, probably as a result of a reduced stimulatory capacity.

Abnormalities of T cells isolated from mediastinal lymph nodes and peripheral blood of patients with lung carcinoma: deficit in PHA-induced expression of HLA class II antigens and in autologous mixed lymphocyte reactions.

A reduced percentage of T cells isolated from mediastinal lymph nodes and peripheral blood of patients with lung carcinoma acquired HLA Class II antigens following in vitro stimulation with PHA. Furthermore T cells were functionally abnormal in autologous and allogeneic mixed lymphocyte reactions (MLR). The immunoregulatory properties of HLA Class II antigens and autologous MLRs suggest that these abnormalities may affect the interaction of the host's immune system with tumor cells.