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La Direttiva 2000/60/CE (WFD) richiede l'individuazione e la designazione dei corpi idrici "fortemente modificati" (HMWB o CIFM), cioè dei corpi idrici che si caratterizzano per gravi ed estese alterazioni idro-morfologiche, dovute ad attività umane, che siano ritenute permanenti e irreversibili, poiché determinate da uno specifico uso antropico. Per essere giudicate effettivamente tali, una eventuale rimozione delle alterazioni dovrebbe avere ricadute insostenibili dal punto di vista sociale e/o economico e, talora, anche ambientale, andando a compromettere l'uso stesso del corpo idrico (e.g. la rimozione di una diga o delle opere di difesa idraulica poste a protezione di una città). I CIFM, una volta designati, avranno obiettivi di qualità ecologica inferiori rispetto ai corpi idrici naturali, dovranno cioè, ai sensi della WFD, raggiungere un obiettivo ambientale che viene definito "potenziale ecologico" (e.g. GEP, Buon Potenziale Ecologico). In generale, i corpi idrici fortemente modificati costituiscono una problematica complessa sia per la definizione degli obiettivi ambientali, sia per l'individuazione di misure efficaci, attuabili e verificabili. Queste ultime, sebbene necessariamente limitate dai margini di intervento imposti dalle destinazioni d'uso, dovranno essere selezionate sulla base delle ricadute positive attese per gli ecosistemi acquatici, per gli habitat e, quindi, per le comunità biologiche oggetto di monitoraggio e di tutela. Nel più generale ambito dell'analisi delle relazioni tra stato ecologico e condizioni di habitat, i corpi idrici fortemente modificati risultano essere una realtà di interesse peculiare, essendo soggetti alle più gravi forme di alterazione e degrado di habitat acquatici e ripari, conseguenza delle modifiche alle quali sono soggetti. Risulta pertanto di notevole interesse, oltre che necessario per gli obiettivi della WFD, verificare i margini di variabilità, all'interno di tali sistemi, delle relazioni tra le condizioni delle comunità biotiche e le caratteristiche di habitat. Peraltro, l'habitat in sé può risultare un elemento fondamentale per interpretare le differenze osservate nelle biocenosi. È in questo contesto che si è sviluppata la consulenza 'tecnico scientifica di alta specializzazione - ARPAV CARAVAGGIO (CIG 6583460B0C, CUP J19D14000580002)' fornita da CNR- IRSA ad ARPAV in ambito BSL4, i cui risultati sono focalizzati sui seguenti obiettivi principali: odefinizione del Massimo Potenziale Ecologico (MEP o PEM) in ambito BSL, per la componente dei macroinvertebrati bentonici; overifica del sistema di classificazione (benthos) per i corpi idrici fluviali fortemente modificati del bacino scolante della laguna veneta; odescrizione delle principali alterazioni di habitat e individuazione di possibili misure di mitigazione. Lo studio è stato incentrato sui corpi idrici fortemente modificati tipici del Bacino Scolante della Laguna di Venezia, per molti elementi rappresentativi della situazione osservabile in gran parte della pianura padana. Si tratta di fiumi caratterizzati da alterazioni idro-morfologiche connesse ad usi di destinazione legati alla difesa da rischio idraulico e alla gestione dei terreni agricoli/bonifica (land drainage) della pianura padana (i.e. presenza di argini e difese di sponda). Per le finalità del progetto sono stati selezionati e investigati 30 tratti fluviali, di cui 7 rappresentativi delle condizioni di Massimo Potenziale Ecologico. Argini e difese spondali, entrambi ricompresi nel caso 2 del DM 156/2013 - difese di sponda e/o argini a contatto dell'alveo per gran parte del corpo idrico (>66%) - sono stati tenuti distinti nella valutazione di alterazione prevalente, definendo dei criteri in base ai quali separare i due tipi di alterazione che, spesso, non sono mutualmente esclusivi. I corpi idrici selezionati per lo studio sono quindi stati assegnati al gruppo degli arginati (ARG) o a quello dei rinforzati (RIN). I due gruppi (arginati e rinforzati), potranno infatti prevedere differenze gestionali e di applicabilità delle misure, oltre che caratterizzarsi per una diversa composizione in habitat che potrà o meno influenzare la composizione delle comunità biologiche. La caratterizzazione delle stazioni e dei corpi idrici fluviali per il BSL4, dal punto di vista abiotico, è stata realizzata seguendo due strade parallele: 1) tramite le informazioni di habitat e idromorfologiche raccolte mediante l'applicazione del metodo CARAVAGGIO; 2) tramite le geoinformazioni reperite, o appositamente prodotte, e sistematicamente organizzate. È stata quindi effettuata la raccolta dei macroinvertebrati bentonici in ciascuno dei 30 tratti fluviali, contestualmente all'applicazione del metodo CARAVAGGIO. In ciascun tratto sono state raccolte un minimo di 21 unità di campionamento (UC) fino a un massimo di 36, secondo un approccio multihabitat proporzionale (come richiesto dalla normativa vigente), in combinazione ad un approccio habitat-specifico. Le informazioni relative a ciascuna unità di campionamento sono state tenute separate, in modo da ottenere taxalist specifiche per ciascuna replica. I principali approcci di analisi utilizzati fanno riferimento alle seguenti tecniche: analisi delle correlazioni, analisi multivariate (DCA, PCA, MRT); test statistici per il confronto tra gruppi di campioni (e.g. Wilcoxon; Mann-Whitney); rappresentazioni grafiche tramite grafici Box Plot e Grafici di dispersione. Sono inoltre stati sviluppati due ulteriori approcci dedicati, a supporto dell'analisi dei dati: 1.combinazione delle singole unità di campionamento/repliche, al fine di ottenere per ciascun tratto fluviale una serie completa di campioni, tutti rappresentativi della comunità rinvenibile nel sito/tratto; 2.identificazione di una modalità di confronto tra tratti fluviali che prevedesse di utilizzare l'informazione di habitat come rilevata preliminarmente al campionamento biologico (i.e. composizione percentuale dei microhabitat acquatici) e che quantificasse la similarità di habitat tra tratti fluviali. Sulla base dei tratti identificati e validati come MEP, sono stati definiti valori biologici di 'riferimento' (per il Massimo Potenziale Ecologico), in accordo ai quali calcolare i valori di STAR_ICMi. Nel Report, vengono proposte diverse opzioni di classificazione, formulate sulla base dei riferimenti normativi disponibili e di nuove possibilità specificamente concepite per l'ambito d'interesse; esse, tutte basate sul calcolo dello STAR_ICMi, prevedono valori diversi di MEP e/o si basano su diverse modalità di costituzione del campione dal quale partire per la classificazione. Per le stazioni BSL4, si hanno infatti a disposizione due principali tipi di campioni proporzionali, ciascuno costituito da 10 UC, derivati in funzione del fatto che per ogni UC raccolta si ha a disposizione una taxalist corrispondente: o1000 campioni per stazione, selezionati casualmente tra tutte le combinazioni possibili di 10 repliche, nel rispetto dei criteri per il campionamento multihabitat proporzionale. Ciascuno equivale ad un tipico campione singolo raccolto per il monitoraggio operativo. o2 campioni per sito, denominati campione G1 e G2, rappresentativi della tipica coppia di campioni raccolta per il monitoraggio di 'sorveglianza', estratti a caso dai 1000. Individualmente, G1 e G2 equivalgono a tipici campioni singoli raccolti per il monitoraggio operativo. I risultati che si considerano più affidabili in termini di classificazione sono quelli che prevedono di utilizzare valori di MEP differenziati per i tratti ARG (i.e. arginatura come alterazione dominante) e RIN (rinforzi di sponda dominanti) e basati su valori 'base 1000', calcolati come medie dei campioni sopra definiti. Sulla base dei risultati ottenuti in ambito BSL4, è stata quindi operata la classificazione delle stazioni segnalate da ARPAV e appartenenti a corpi idrici ricadenti nel BSL, o in aree ad esso adiacenti. Più in generale, vengono proposti valori MEP ricalcolati per un aggiornamento di quanto presente nel DD 341/2016. Le analisi effettuate hanno rilevato un evidente gradiente di alterazione tra i diversi tratti fluviali investigati, in accordo con le variazioni delle caratteristiche di habitat e alla presenza di argini e rinforzi. Separatamente per CI arginati e rinforzati, sono quindi stati predisposti degli elenchi, in formato di schede sintetiche, delle principali alterazioni fisiche, delle modificazioni morfologiche e di habitat, nonché delle misure che potrebbero mitigarne e ridurne gli effetti. Uno degli scopi della compilazione delle schede è stata la quantificazione, per ogni tratto fluviale, della percentuale di misure applicate in funzione delle alterazioni osservate e/o attese. Inoltre, tali schede possono essere utilizzate per capire, in ciascun nuovo tratto investigato, quali caratteristiche/misure sarebbe opportuno e/o consentito implementare, per confronto con quanto osservato nei tratti MEP. Ad esempio, i risultati della compilazione di tali schede consentono di evidenziare che la presenza delle golene (negli Arginati) modifica notevolmente il quadro delle misure realizzate per i tratti che le possiedono, e i tratti MEP ne sono i principali beneficiari. Questi ultimi sono infatti generalmente contraddistinti dalla presenza di vegetazione arbustiva e arborea caratteristica, che si estende in continuità longitudinale, almeno sull'interfaccia sponda/acqua, e da un alveo tendenzialmente poco alterato. Nel caso dei rinforzati, i rinforzi non continui e/o in materiali naturali, o arretrati, supportano a loro volta diverse altre componenti legate alla vegetazione e alla connettività laterale. Tra le misure più frequenti risultano quelle legate alla gestione sostenibile sia degli habitat acquatici (e.g. macrofite), sia della vegetazione erbacea idrofila di sponda (arginati), e all'uso di materiali naturali (palificate e pietrame) non cementizi per i rinforzati. A supporto della validazione indiretta del metodo di classificazione, è stata valutata la relazione tra metriche biologiche e pressioni antropiche e/o fattori di alterazione ambientale e misure di mitigazione, per i tratti fluviali indagati durante il progetto BSL4 (analisi di correlazione tra valori di STAR_ICMi e variabili abiotiche). Sulla base dei diversi valori di correlazione ottenuti dallo STAR_ICMi con le diverse variabili abiotiche, sono stati acquisiti elementi utili ad individuare le opzioni di calcolo dello STAR_ICMi più adeguate; è stato inoltre possibile delineare una lista delle principali variabili abiotiche in grado di influenzare i valori di STAR_ICMi, anche al fine di individuare e proporre misure di mitigazione prioritarie per le comunità dei macroinvertebrati. Tra le analisi effettuate, è stata inoltre condotta un'analisi di classificazione dei campioni biologici raccolti operata attraverso un approccio di regression tree. Sono quindi state messe in relazione tra loro le caratteristiche di habitat/misure, a diversi livelli di dettaglio, e le comunità macrobentoniche, per riconoscere le caratteristiche meglio in grado di definire differenti gruppi bentonici. In termini di analisi complessiva, sono infine stati stimati gli incrementi di qualità attesi in seguito alla possibile implementazione delle misure e/o al ristabilirsi di condizioni di habitat favorevoli per le comunità bentoniche. In conclusione, i risultati ottenuti dimostrano una chiara relazione tra i valori di STAR_ICMi - e la struttura della comunità macrobentonica - e le alterazioni di habitat causate dalle modificazioni morfologiche che interessano i CIFM di pianura. Si ritiene quindi possibile, attraverso la messa in pratica di azioni e misure volte a mitigare degli effetti delle alterazioni morfologiche sugli habitat, ottenere un incremento dei valori di STAR_ICMi. Ciò, soprattutto in assenza di inquinamento delle acque e qualora gli interventi siano di sufficiente entità, potrà determinare un conseguente aumento della classe di potenziale ecologico. Le analisi condotte hanno consentito di effettuare una sintesi di quelle che si considerano essere le misure che, a questo scopo, sarebbe più opportuno implementare in ambito BSL. Favorire la presenza di specifiche caratteristiche di habitat e/o l'implementazione di singole misure, alla cui variazione corrispondono comunità differenti e livelli diversi di stato/potenziale ecologico, potrebbe quindi rivelarsi un utilissimo strumento per migliorare la qualità ambientale in area BSL. Si ritiene però importante affermare che, verosimilmente, una maggiore efficacia sarà osservabile con la messa in opera di misure in combinazione, atte a garantire la copresenza di più caratteristiche favorevoli di habitat. Alcune delle specifiche caratteristiche di habitat riconosciute dallo studio come significative per la componente macrobentonica sono connesse alla gestione della vegetazione riparia, per garantire la presenza di un'adeguata fascia riparia arbustivo/arborea autoctona. Altre indicazioni prevedono di minimizzare gli interventi a carico dell'alveo fluviale e.g. favorendo la presenza di habitat quali CPOM e detrito legnoso. A tale riguardo, è opportuno segnalare come azioni volte a rendere la struttura dei microhabitat acquatici (presenza e abbondanza relativa - descrittore HF) simile a quella osservata nei tratti fluviali definiti come MEP, qualora svolte in modo efficace e con effetti duraturi, porterebbero probabilmente risultati molto evidenti in termini di miglioramento dello stato/potenziale ecologico per gli invertebrati bentonici. Le considerazioni fin qui delineate dovrebbero sempre essere accompagnate da considerazioni circa il carattere lentico-lotico dei tratti fluviali investigati. In particolare, il carattere lentico-lotico dovrebbe mantenersi non troppo distante dall'equilibrio tra habitat lentici e habitat lotici (se possibile, LRD< ?26 e, comunque, LRD non > ?40). Inoltre, dovrebbe essere favorita la presenza di aree con tipi di flusso relativamente turbolenti (e.g. RP, UW) e di substrati a granulometria relativamente grossolana (i.e. non solo limo/argilla). La sezione fluviale dovrebbe peraltro essere 'gestita' aumentando le possibilità di mobilità laterale dell'alveo, l'instaurarsi di condizioni morfologicamente differenziate tra le diverse aree e livelli idrici utili alla presenza di habitat lotici. Va infine ricordato che il verificarsi degli effetti positivi di una serie di misure sulle biocenosi residenti e sull'ecosistema potrà dipendere da svariati fattori (auspicabilmente) gestiti a scale spaziali più ampie di quella del singolo tratto fluviale.

Current state and temporal evolution of the chemical composition of atmospheric depositions in forest areas of the CONECOFOR network. Since 1997, atmospheric deposition was sampled and analyzed in the permanent plots of the Italian network for the evaluation of forest health (CONECOFOR), under the coordination of the Italian Forest Service. This paper presents the results of the activity carried out in 2009, when the EU-funded LIFE+ “FutMon” project allowed to extend the sampling network to 22 sites. Long-term trends will also be evaluated for the sampling sites with the longest time series. The sampling of open field bulk deposition was performed in a clearance close to the CONECOFOR permanent plots, while throughfall deposition and stemflow (in beech stand, only) were sampled in the plot. Deposition samples were collected weekly and sent to the laboratories, where they were analyzed for pH, conductivity, major ions, and total carbon and nitrogen. Most measured variables showed a strong geographical gradient. For example, nitrogen deposition was relatively high in the Po plain (where the emissions of nitrogen oxides and ammonia are the highest) and surrounding hills, reaching 10-20 kgN ha-1 y-1 in the open field and 13-25 kgN ha-1 y-1 in the throughfall. Sulphate deposition also showed a marked geographical gradient. Deposition of marine aerosol also had an important impact on the chemical composition of atmospheric deposition in Italy, together with the episodic deposition of Saharan dust, which showed a marked gradient, with highest values in the southernmost plots. Trend analysis was carried out on 10 sites running since the beginning of the program. A general negative trend in sulphate concentration was detected, paralleled in most plots by a positive trend in deposition pH, in good agreement with the strong reduction in the emission of sulphur dioxide recorded in the last decades. Nitrogen concentration also showed a significant decrease in some plots. The total deposition of nitrogen exceeded critical loads in seven permanent plots.

Il presente contributo descrive i risultati applicativi della ricerca in termini di: valutazione degli habitat fluviali, loro importanza nell'influenzare le biocenosi acquatiche, potenzialità come strumento per garantire un efficace monitoraggio e/o classificazione dello stato ecologico

L'opportunità di poter realizzare indagini ambientali nelle aree remote più elevate del pianeta, attrasse l'attenzione dei ricercatori favorendo nel 1989 l'avvio di una serie di studi che si sono sviluppati e si sviluppano da oltre un quarto di secolo. In questa breve nota vengono descritti gli ambiti delle ricerche condotte e le 38 pubblicazioni 'ISI web of science' di IRSA-CNR. si osservi la consequenzialità logica con cui sono stati condotti gli studi e l'approccio interdisciplinare adottato per comprendere i processi che influenzano i fragili equilibri degli ecosistemi d'alta quota in un contesto generale di cambiamenti globali.

Variations in (a) carbon and nitrogen stable isotope composition (as δ13C and δ15N), and (b) trace metal content of sediments and biota (algae, invertebrates and fish) were investigated at four sites along the river Po (from the middle reaches to the delta) and one site in the coastal Adriatic area influenced by the river. The aim was to begin accumulating a database to help interpret differences in the accumulation of toxic substances in biota and sediments, elucidating how food sources and feeding strategies change between areas of the system differing in terms of anthropogenic influence and distance from the river mouth. C content and δ13C and δ15N were determined on biological tissue and sediment samples using a continuous flow isotope ratio mass spectrometer. Trace metal concentrations were assayed by electrothermal (Cd, Cu, Cr, Ni, Pb) or flame (Zn) atomic absorption spectrometry after acid digestion. Hg was assayed on solid samples on an automated mercury analyser using the vapour generation technique. In the sediments, depletions of the 13C isotope at the post-Lambro site (downstream) relative to the upstream Lambro site were indicative of the significant pollutant input from this tributary to the Po. Mercury, cadmium and zinc concentrations in sediments were two-to-three times higher downstream compared to upstream. Differences in carbon and nitrogen isotope signatures in fish species among the two Lambro sites and the last stretch of the Po indicated variations in the type of food and primary carbon sources. Only for chromium were concentrations significantly higher in fish muscle from the post Lambro site than from upstream of the Lambro or the last reaches of the Po. Mean levels of cadmium and zinc in the muscle of omnivorous fish at the four river sites were low and similar (< 0.01 to 0.02 μg g-1 for Cd, 22–31 μg g-1 for zinc), while between-site differences were found for the other metals. Only for mercury did bioaccumulation reflect trophic level movement.

Carbon and nitrogen stable isotopes and trace metals (Hg, Cd, Cr, Ni, Cu, Pb, Zn) were measured in benthic organisms from the marine area outside the Sacca del Canarin lagoon in the Po delta. The results of δ 13 C and δ 15 N determinations permitted the reconstruction of the foodweb composed of filter-feeders, deposit feeders, fish predators and scavengers. Significant interspecies differences in metal concentrations were found and are discussed in relation to feeding habits and trophic level.

Throughfall and open field deposition were sampled in two alpine forest catchments in Lombardy characterized by a different degrees of forest decline. The results of two years sampling revealed some interesting differences in the chemical composition of throughfall deposition between the two study areas. The higher concentrations of potassium, calcium, nitrate and dissolved organic carbon (DOC) measured in the Alpe Culino throughfall samples, indicate that the phenomenon of foliar leaching is marked in the area and can be related to the greater forest damage. Large spatial variability of throughfall deposition fluxes within Alpe Culino forest was observed.

In riverine environments, nutrients such as mineralized compounds of phosphorus and nitrogen play an essential role in defining ecosystems functioning, acting in particular as limiting factors. Within nutrients cycling, the fundamental role of bacterial communities has been widely recognized; however, only relatively recent studies demonstrate the importance of animal communities in such processes. In particular, among the aquatic communities, benthic biocoenoses play part of the process in the accumulation, transformation and removal of nutrients in a water body, defining nutrient retention, that is one of the measures of freshwater ecosystem functionality. Among the activities considered in INHABIT project, the present deliverable considers the relationships between the dynamics of nutrients retention and aquatic macrobenthic community structure, considering in particular distribution and abundance of taxa, trophic roles and classification of ecological status based on benthic invertebrates. The activity has considered the investigation of 71 river stretches located in Sardinia; on 19 of them (also called 'addition sites') the experiment of nutrient addition was performed, in order to assess dynamics of nutrient retention. Two distinct sets of multivariate analyses were carried out with the aim, in the first case (N=71), to contextualize river stretches considered for the nutrient addition experiment in a wider regional framework and, in the second case, to more specifically characterize such traits with an analysis carried out at microhabitat level (single macroinvertebrate sampling units, N=380). Axes resulting from multivariate analyses were interpreted by means of correlation (R- Pearson) with approximately 200 variables, that included geographic, physical-chemical, mesohabitat- and microhabitat- related, habitat quality, nutrient retention and biological variables. Direct linear correlations between selected biological metrics, descriptive of trophic roles and ecological quality, and retention metrics were also considered. Results of the analyses have confirmed for 'addition sites' a macrobenthic community structure comparable to that of other sites in Sardinia, considered in a wide regional area, confirming the general soundness of the experimental assumptions. Within considered river stretches, the lenticlotic character has resulted the main environmental feature defining macrobenthic community, as already shown in other activities of INHABIT project. Particularly interesting were the results observed for the relations between the ammonium 'coefficient of mass transfer' retention metric and selected biological metrics, descriptive of trophic roles (ratio of Grazers / Passive Filterers) and ecological status (STAR_ICMi index). In both cases positive linear correlations were observed suggesting, on one hand, the importance of the association between Grazer taxa and nutrient retention dynamics, presumably in relation to the development of periphytic biofilms and highlighting, on the other hand, the increase of retention efficiency at increasing environmental quality. From these results it is possible to infer that, in riverine environments, the protection of a high ecological status can simultaneously ensure the activation of the processes reducing nutrients accumulation.

Guidelines presenting INHABIT main outcomes listed as key points

Caged rainbow trout were exposed for a month at two sites in the river Po, one upstream and the other downstream of the river Lambro inlet. Gills, spleen, kidney, muscle, and vertebral bone were examined for metal content after 7, 15, and 30 days of exposure. Cd accumulated mostly in spleen and muscle; Hg in muscle and kidney; Pb in bone, spleen, and kidney; Cr in spleen, muscle, and gills; and Cu in kidney. The highest Zn levels were measured in gills, but no consistent variations were observed. Trends of accumulation, target organs, and estimated whole body contents are discussed. Although the metal content of most organs was low and variations in concentrations were relatively contained, differences between the two stations were observed for Cd, Hg, Pb, and Cr.

Caged freshwater zebra mussels (Dreissena polymorpha) were transplanted for one month to two sites in the lower river Po, northern Italy. Trace metals accumulated in tissues were determined after 15, 30 and (1 station only) 60 days, and were also expressed as metal body burdens. Metals were also determined in Po water samples. No significant differences in metal accumulation in mussel tissues were observed between the two sites. Cd and Pb concentrations increased from 1.23 to 3.22 and 3.40 to 5.93 μg/g dry weight respectively at one site and the same trend was observed at the second site, indicating that these metals accumulated. Cu and Zn concentrations in mussel tissues did not change relative to time zero concentrations. The highest Cr and Ni levels were found after 15 days at both stations (10 and 27 μg/g dry weight respectively). Low and relatively constant Hg concentrations (

We report the cases of two siblings both affected by inherited sensory-motor neuropathy of a demyelinative nature but with markedly different severity and pathological findings. The clinical, neurophysiological and morphological features in these two cases were consistent with the diagnosis of Hereditary Motor Sensory Neuropathy type 3 (HMSN 3), according to the classification of Dyck, with different expressivity. These results raise the still unsettled question of the phenotypic variants in inherited neuropathies. In fact the most severely affected of our cases had clinical and neurophysiological findings identical to those reported in cases of Congenital Hypomyelination Neuropathy (CHN), but the morphological picture in the sural nerve was inconsistent with this diagnosis. The criteria for the diagnosis and the reported cases of CHN have been reviewed.

A series of 64 consecutive cases of children with neuroepthelial tumors of the cerebral hemispheres operated on from 1966 to 1983 is analyzed with regard to the long-term survival rate and the quality of life at late follow-up. At the time of the diagnosis the age of the patients ranged from 8 months to 15 years (mean age 7.6 years), and the relative incidence of these neoplasms was found to be about the same (37%) in the subgroups from 5 to 10 years and 11 to 15 years. It was only 9% in patients below 2 years of age. Tumor removal was radical in 84% and partial in 16% of the cases. The overall operative mortality was 14%, although it has been 4% since 1977. At histology, grade I and II lesions were found to account for 70% of the cases, and of the remaining 30% of the cases 8% were grade IV anaplastic lesions. The survival rate of the 55 survivors was calculated according to the actuarial life-table analysis. It was 62% at 5 years and 40% at 15 years. The survival rate at 5 years was 80% for low grade (I and II) tumors while it was 25% for high-grade malignancy (III–IV) tumors. The quality of life was assessed in all 29 patients with long-term survival (disease-free state lasting for at least 5 years) by adopting a specific protocol, which included repeated CT studies and neuropsychological evaluation. A more favorable prognosis was established for children operated on when over 6 years of age and with frontal and parietal neoplasms, while a poor functional prognosis was observed in children below 6 years of age and with temporal lobe tumors.

Between 1956 and 1987 operations were performed on 36 patients below the age of 20 years for epidermoid and dermoid cysts of the central nervous system. Seventeen tumors were intracranial intradural lesions (47%): 12 were located in the supratentorial region (71%) and 5 were located in the infratentorial region (29%). Ten of these tumors (59%) were seated along the midline structures. The clinical presentation was consistent with the location of the tumors. The neuroradiological diagnosis was mostly made with the aid of pneumoencephalography, computed tomography (CT), nonionic contrast medium CT cisternography, and magnetic resonance imaging. Complete removal of the tumor contents was performed in all cases but one, although the completeness of removal of the tumor capsule could not be exactly estimated in some patients. At late follow-up only two tumor recurrences were observed. Radical removal of the tumor capsule of these congenital tumors, even when it is connected to vital neurovascular structures, seems advisable in patients who become symptomatic within the first two decades of life.

Background: Pelizaeus-Merzbacher-like disease (PMLD) is an inherited hypomyelinating leukoencephalopathy with onset in early infancy. Like Pelizaeus-Merzbacher disease (PMD), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and spasticity, due to a permanent lack of myelin deposition in the brain. Mutations in the GJA12 gene, encoding connexin 47 (Cx47), were recently reported in five children with autosomal recessive PMLD. Objectives: To evaluate the impact of mutations in the GJA12 gene in, and define the clinical and neuroimaging features of, autosomal recessive PMLD. Results: The authors screened for GJA12 mutations in 10 additional PMLD families originating from Italy, Pakistan, and Saudi Arabia. Three novel homozygous GJA12 mutations were identified in 12 mutant cases distributed in 3 of 10 families. The mutations segregated with the disease according to an autosomal recessive trait and included one missense (G236S) and two nonsense (L281fs285X and P131fs144X) changes. Conclusions: The identification of homozygous mutations predicting the synthesis of aberrant and truncated polypeptides, and their tight segregation with the disease in very large families, clearly demonstrate that the loss of Cx47 function is the cause of the disease. The phenotype of GJA12 -related Pelizaeus-Merzbacher-like disease is fairly homogeneous and similar to that of Pelizaeus-Merzbacher disease. However, slower progression of symptoms, greater preservation of cognitive functions, and partial myelination of corticospinal tracts at MRI were distinctive features, which could help in the differential diagnosis.

Groundwater flow and nitrogen dynamics were investigated in a riparian area richarged with groundwater having a high nitrate levels (3 - 35 mg/l N-NO3). The results collected during a two years period (2002-2003) indicated a drastic reduction of N-NO3 concentrations at only 5-10 m from the crop field within the riparian strip. The comparison of groundwater nitrate and chloride trends at different depths and distance from the crop field to the stream suggested the importance of biological processes in the nitrogen removal. The hydrological and morphological features of the studied area provide conditions conducive to denitrification.

The clinical course of 50 patients with low-grade glioma (31 male, 19 female) undergoing surgery at a single Institution from 1992 to 1996 was analyzed in relationship with known prognostic factors as far as time to tumor progression (TTP) and survival time (ST) are concerned. Moreover, microvessel density (MVD) and expression of the angiogenesis-related chemokine CXCL12 were investigated in surgical specimens. Age at diagnosis ranged from 1 to 68 years (median 30). Histology revealed 11 fibrillary, 6 protoplasmatic, 5 gemistocytic astrocytoma, 18 oligoastrocytoma and 10 oligodendroglioma. Mean follow-up was 86 months. Four patients were lost to follow-up. Of the remaining 46, twenty-four have shown disease progression and 14 have died. Median overall survival was not achieved; an estimated 75% percentage of survivors was found at 78 months. Complete gross tumor removal was associated to a longer TTP (P = 0.04 logrank). Of the investigated immunohistochemical parameters, while MVD was not predictive of subsequent TTP, expression of CXCL12 was associated with a significantly shorter TTP (P = 0.01 logrank): this predictive value remained significant (P = 0.02) at multivariate analysis. The data suggest the possible prognostic value for CXCL-12 (an angiogenesis- and tumor-growth-related chemokine) on TTP in low-grade gliomas.

The authors review 71 patients with triventricular hydrocephalus in whom a contrast-enhanced CT scan did not show any tumoral or vascular lesion that could have caused the hydrocephalus. The patients were subdivided into three age groups. The results of the neuroradiological examination, the surgical treatment, and the complications of the shunt procedure are analyzed, with special reference to the high number (13) of periaqueductal alterations of signal pattern found on MRI (interpreted as a "slow growing" neoplasm) and to the incidence and causes of shunt malfunction.

Trace metal (Cd, Co, Cr, Cu, Hg, Ni, Pb and Zn) contamination was evaluated in zebra mussels from the lakes Maggiore, Lugano, Como, Iseo and Garda, which are located in the most highly populated and industrialised area in Italy. Zebra mussels from Lake Maggiore contained the highest concentrations (3.44, 1.51, 4.97, 0.158, 5.87, 346 microg g(-1) for Cd, Co, Cr, Hg, Pb, Zn, respectively) of all metals analysed except Cu and Ni. The lowest levels of most metals were in animals from Garda and Lugano (0.78 and 0.60 microg g(-1) for Cd, 2.87 and 2.03 microg g(-1) for Cr, 0.065 and 0.049 microg g(-1) for Hg, 12.1 and 11.9 microg g(-1) for Ni, 1.96 and 2.46 microg g(-1) for Pb, 158 and 163 microg g(-1) for Zn). The most contaminated sites and possible local sources of metals were identified for each lake, and the lakes classified into quality classes concerning metal pollution.

Twenty-eight children (mean age 8 years) with neurofibromatosis type 1 (NF1) and cerebral tumor were studied from 1975 to 1992 (mean follow-up 8.1 years) considering the biological behaviour of the tumor and the patient's quality of life, in order to identify retrospectively the best management. All, except one, tumors were benign gliomas, 76% of the optic nerve/chiasm (NCO), just 10% infratentorial. Sixteen children (57%) did not receive any treatment, 2 radiotherapy (RT) only and 4 symptomatic treatment only; in 6 patients the tumor resection was performed. 92% of the 25 survivors had sufficient autonomy in daily life at last follow-up. Considering the risk of cerebral tumors in patients with NF1, we conclude that cerebral magnetic resonance should be performed also in the asymptomatic ones. If neuroradiological findings are characteristic of benign glioma, histologic confirmation seems unnecessary. Surgical resection is recommended only in tumors confined to a single optic nerve, with severe or progressive symptoms. In chiasmatic tumors we suggest partial resection or symptomatic treatment only with close clinical and radiological observation. RT is only recommended if there is unequivocal evidence of tumor progression. Chemotherapy can delay the use of RT in very young children. Cerebral tumors different from NCO gliomas seem to have a similar natural history in patients with or without NF1 and therefore the management should be the same for both groups.

Eighty children who in the first 2 years of life had signs and symptoms relating to a cerebral neoplasm were studied over an 18-year period (1970–1987), the mean follow-up being 8.2 years. In each case age at onset, clinical presentation, tumor location and pathological diagnosis, extent of surgical resection, postoperative mortality, adjuvant therapy length of survival and quality of life were assessed. Supratentorial tumors (59%) were more common than infratentorial. The most frequent clinical presenting feature (70%) was increased intracranial pressure. Sixty-three patients (79%) were operated on and in all of these cases a histological diagnosis was obtained. Astrocytomas (41%) and medulloblastomas (20%) were the most common oncotypes. Surgical mortality was 17.4% and the 5-year survival rate was 54%. Quality of life was assessed for all long-term surviving patients using a specifically designed protocol. Normal physical and intellectual performances were found in 46% of cases, and all together 75% of the patients had sufficient autonomy in daily life. The prognosis is more closely related to tumor location and type of treatment than to histological diagnosis or age at onset.

We compared 25 autosomal dominant hereditary motor and sensory neuropathy (HMSN) type I patients with 7 subjects affected by hypertrophic HMSN with non-dominant inheritance. All the autosomal dominant HMSN I cases carried the chromosome 17p11.2 duplication, providing evidence that it is widely represented in HMSN I families. The second group included: Two siblings born to unrelated, unaffected parents and suffering from hypertrophic HMSN of strikingly different severity; two sisters with HMSN I phenotype, born to first-cousin unaffected parents; two brothers with HMSN III phenotype born to unrelated parents both showing HMSN II phenotype; a child with classic HMSN III phenotype, born to unrelated, unaffected parents. The 17p11.2 duplication was not found in any of the patients of the second series or in their parents. Our data provide further evidence that: HMSN III is heterogeneous and encompasses the homozygous expressions of different neuropathic genes; it is advisable to separate autosomal recessive hypertrophic HMSN from dominant HMSN Ia, because they appear to be due to different DNA mutations.

An 11-year-old boy, treated for acute lymphatic leukemia at the age of 2 with intrathecal injections of Methotrexate, presented with a two year history of pain and signs of lumbo-sacral lesion. MRI, myelography and myelo-CT demonstrated an intradural L4-L5 epidermoid tumor which was removed. Iatrogenic implantation of epithelial cells at the age of two with lumbar punctures is most likely. Decline in incidence of lumbar iatrogenic epidermoid cysts, now an exceedingly rare event, is probably related to improved needles for lumbar punctures.

A case of GM-gangliosidosis, variant AB, with some atypical feautres is reported in a male child, who died at the age of 4 years and 3 months. When he was 2 and a half years old, he showed signs of progressive cerebral disease with increasing motor and mental impairment. The clinical signs suggested a form of neurolipidosis; however the data of the enzymatic activities of the peripheral blood leucocytes did not show any deficit related to these forms. More specifically the values of the exosaminides A and B were normal, although the component A was near the lowest limit of the range. The anatomical, histological, histochemical, ultrastructural and chemical studies showed that it was a form of GM-gangliosidosis with visceral involvement. In the crude lipid extracts of various organs there was not only GM-ganglioside, but also a compound not previously demonstrated in these forms of neurolipidosis. Chemically this compound may be considered a phosphoglyco-lipid-and protein complex. From the enzymatic data in the peripheral blood leucocytes, the case may be a variant AB of the Sandhoff and al. classification (1971). However some clinical signs make our case closer to the 3th type of the O'Brien and al, classification while some histopathological aspects are similar to Tay-Sachs disease (i.e. to the variant B of the Sandhoff et al. classification; i.e. to the 1th type of the O'Brien et al. classification). These data, and the presence of an 'unknown compound', not yet demonstrated in the known forms of GM-gangliosidosis, support the hypothesis that our case may be considered as an 'atypical' form of the variant AB of the gangliosidosis GM and that further studies are necessary to reach a final nosography of these entities.

We describe two siblings with hereditary motor and sensory neuropathy (HMSN) type III. Their parents were both affected with autosomal dominant axonal HMSN. The neuropathy in the siblings probably resulted from homozygous expression of the HMSN II gene. Together with other reports of homozygous HMSN I, this family suggests that HMSN III is heterogenous and encompasses the most severe homozygous expression of neuropathic genes.

Hydrophobins are fungal cell wall proteins involved in aggregation of hyphae. Upon the development of the ectomycorrhizal symbiosis between tree roots and fungal hyphae, the transcripts of hydrophobin genes markedly accumulated. As the precise role of these proteins in symbiosis is not yet known, we develop heterologous expression system of the Pisolithus hydrophobin HYDPt-1. This gene has been introduced in Saccharomyces cerevisiae and in the ectomycorrhizal basidiomycete Hebeloma cylindrosporum. Introns were required for hydPt-1 transcript accumulation in the basidiomycete H. cylindrosporum. Heterologous transcript accumulation did not alter the phenotype of either species. The lack of altered phenotype resulted from the absence of HYDPt-1 polypeptide accumulation in transformed strains.

A 25-month-old girl had proximal myopathy, increased blood lactate and pyruvate concentrations, and transient ketoacidosis. Muscle biopsy revealed vacuolar myopathy with accumulation of both lipid and glycogen. Electronmicroscopy also showed abnormalities in the shape, size, and internal structure of muscle mitochondria. Carnitine content of skeletal muscle was reduced. Short-chain and long-chain acyl-carnitines were augmented in both plasma and skeletal muscle. Oral carnitine therapy improved muscle strength.