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Childhood ataxia with central nervous system hypomyelination (CACH) syndrome is an autosomal recessive transmitted leukodystrophy characterised by early childhood onset and acute deterioration following febrile illnesses or head trauma. We describe the case of a child with early onset of CACH syndrome. He presented with cerebellar ataxia beginning around two years of age with mild mental retardation. MRI showed diffuse white matter signal changes with thinning of the corpus callosum.

The immune system plays an important role in the defense against neoplastic disease and immune responses show temporal changes related to circadian variations of antibodies, total lymphocytes in the peripheral blood and cell mediated immune responses. In this study we evaluate, lymphocyte subpopulations and interleukin-2 (IL-2) serum levels in peripheral blood samples collected at four-hour intervals for 24-hours starting at 06.00h from ten healthy subjects aged 65–79 years (mean age ± S.E. 67.28 ±3.11) and from ten subjects suffering from untreated non small cell lung cancer aged 65–78 years (mean age ± S.E. 68.57 ± 1.81). Areas under the curve, mean diurnal levels (mean of 06.00–10.00–14.00 h) and mean nocturnal levels (mean of 18.00–22.00–02.00 h) were calculated, and the presence of circadian rhythmicity was evaluate. When we compared AUC values there was a decrease in CD8bright(T suppressor subset) and an increase in CD16 (natural killer cells) and of IL-2 serum levels in cancer patients. When we compared mean diurnal levels, CD8 (T suppressor/cytotoxic subset) and CD8brightlevels were lower, and CD16 levels were higher in cancer patients. When we compared mean nocturnal levels, CD16 and CD25 (T and B activated lymphocytes with expression of the a chain of IL-2 receptor) levels were higher, while CD8, CD8bright, CD20 (total B-cells), TcRd1 (epitope of the constant domain of d chain of T-cell receptor 1) and dTcS1 (epitope of the variable domain of d chain of T-cell receptor1) levels were lower in cancer patients. A clear circadian rhythm was validated for the time-qualified changes in CD4, CD20, HLA-DR with acrophase at night, and CD8, CD8bright, CD8dim, CD16, TcRd1 and dTcS1 with acrophase in the morning in the control group. A clear circadian rhythm was validated for the time-qualified changes in CD4 with acrophase at night, in the group of cancer patients. Results obtained in our study show that lung cancer is associated with anomalies of proportion and circadian variations of lymphocyte subsets that must be considered when adoptive immunotherapy has to be planned.

Abstract: To evaluate the role of endothelin-1 (ET-1), a vasoconstrictor and mitogenic peptide synthesized by endothelial cells, on the endothelial dysfunction in non-insulin-dependent diabetic (type 2) patients, we have measured the circulating ET-1 levels in 25 patients with and without clinically evident vascular complications and in a control group. Circulating ET-1 levels were significantly higher in diabetic patients with angiopathy than in diabetics without angiopathy and in controls (7.022.9 pg/ml vs 4.41.1 pg/ml and 3.080.7 pg/ml, respectively;P<0.001). No difference was demonstrated between diabetic patients without angiopathy and controls. These findings suggest that ET-1 may be a marker for arterial vascular disease only in patients with overt angiopathy. It is unclear whether it participates in the endothelial injury process or it is merely released from damaged endothelial cells.

Gli autori illustrano gli aspetti tecnici e semeiologici della sequenza Fast Spin Echo nello studio dei traumi vertebro-midollari acuti.La rapidità di acquisizione, il mantenimento del contrasto Spin Echo e quindi della semeiotica delle lesioni vertebro- midollari, rendono tale sequenza una valida alternativa alla Spin Echo tradizionale, almeno nello studio su piani sagittali. Su piani assiali invece la Gradient Echo risulta ancora superiore alla Fast Spin Echo in virtù di un migliore contrasto sostanza bianca/sostanza grigia midollare e alla mancanza degli artefatti da pulsazione liquorale.

Gli autori illustrano gli aspetti tecnici, semeiologici ed applicativi delle tecniche di soppressione del grasso, con sequenza Fast Spin Echo (FSE) T2 pesata, in Neuroradiologia. L'uso di queste tecniche risulta obbligatorio con la FSE in quanto tale sequenza è caratterizzata da un alto segnale del grasso non solo in T1p, ma anche in T2p.Ciò comporta un'alterazione dell'imaging FSE, rispetto a quello Spin Echo convenzionale, con possibilità di mascherare tutte quelle patologie anch'esse ad alto segnale in T2p. I distretti che possono risentire di tale inconveniente comprendono quelle strutture con ampia componente di grasso quali quelle della testa (orbite, clivus, osso temporale) e soprattutto del rachide, particolarmente ricco di grasso a livello del midollo vertebrale e dello spazio epidurale.Le tecniche più utilizzate sono la CHESS-FSE (Chemical Shift Selective Saturation -FSE) e la STIR-FSE (Short TI Inversion Recovery-FSE). Con entrambe la soppressione del grasso risulta soddisfacente e rapida; ne consegue un aumento della visibilità diagnostica di lesioni quali quelle flogistiche o tumorali (specie ripetitive) altrimenti mascherate dall'alto segnale del grasso.

Questo lavoro prende in considerazione gli aspetti tecnici, semeiologici ed applicativi della sequenza Fast Spin Echo (FSE) nello studio della patologia del distretto spinale. Tale sequenza può essere considerata una Spin Echo (SE) multieco, rapida, caratterizzata infatti da una drastica riduzione del tempo di acquisizione, rispetto alla SE, con conseguente riduzione degli artefatti da movimento e di disagi per i pazienti (specie se sofferenti e non collaboranti).Il tempo risparmiato può essere utilizzato per eseguire esami ad alta definizione, o altre sequenze e proiezioni lungo piani accessori.L'iconografia FSE è molto simile a quello ottenuta con la SE. In realtà esistono alcune lievi differenze semeiologiche che possono talvolta creare dei problemi di interpretazione e che pertanto bisogna tener presenti, quali la persistenza dell'iperintensità del grasso (anche in sequenza T2-W) e la riduzione degli effetti da suscettibilità magnetica.Importanti applicazioni sono l'«effetto mielografico», la possibilità di studiare ampi tratti di colonna (con FOV ampi e bobina del corpo) e di ottenere, con sequenze altamente pesate in T2 la soppressione del grasso e, con rielaborazione MIP, immagini tridimensionali simil-mielografiche.

The t(12;21)(p13;q22) translocation has been described recently as the most recurrent genetic lesion in paediatric acute lymphoblastic leukaemias (ALLs). It has also been associated with B-precursor lineage involvement and good outcome.
We tested 51 diagnostic paediatric ALLs and found 11 cases with molecular evidence of the t(12;21). Interestingly, amongst t(12;21) positive patients, we report three cases with hybrid phenotype, and two cases showing an aggressive and fatal disease. Our data show that the t(12;21) does not represent an independent good-risk indicator. Long follow-ups and additional molecular investigations are needed to assess the prognostic and pathogenetic relevance of t(12;21) in childhood ALLs.

The abundance of endothelial cells in bone marrow and the proximity of these cells to osteoclasts and osteoblasts suggest a role for endothelin-1 (ET-1) on bone metabolism. In vitro,the direct contact with bone endothelial cells induces osteoclastic progenitors to differentiate into mature elements. Recently it has been reported that ET-1 inhibits osteoclastic bone resorption and cell mobility through a specific receptor on osteoclasts; other authors demonstrated that ET-1 exerts a mitogenic activity on osteoblast-like cells (MC3T3) by stimulating tyrosin phosphorylation. We measured ET-1 circulating levels in patients with active Paget's bone disease, a condition with accelerated bone turnover. For the study we recruited 11 patients with Paget's bone disease (5F, 6M; mean age 68.2 ± 3.6) in the acute stage of the disease; 10 healthy subjects (7F, 3M; mean age 66.5 ± 3.9) were also enrolled as controls. Plasma ET-1 levels were measured with RIA kits provided by Nichols Institute. Patients showed significantly (P< 0.01) higher ET-1 circulating levels than controls (6.35 ± 1.9 versus 3.4 ± 1.2 pg/ml) with a positive correlation (r = 0.63; P= 0.038) with serum alkaline phosphatase (ALP), but not with urinary hydroxyproline. The higher levels of ET-1 in our patients suggest a physiopathological role for this peptide in the disease and, could perhaps represent a new useful marker of Paget's bone disease activity.The abundance of endothelial cells in bone marrow and the proximity of these cells to osteoclasts and osteoblasts suggest a role for endothelin-1 (ET-1) on bone metabolism. In vitro,the direct contact with bone endothelial cells induces osteoclastic progenitors to differentiate into mature elements. Recently it has been reported that ET-1 inhibits osteoclastic bone resorption and cell mobility through a specific receptor on osteoclasts; other authors demonstrated that ET-1 exerts a mitogenic activity on osteoblast-like cells (MC3T3) by stimulating tyrosin phosphorylation. We measured ET-1 circulating levels in patients with active Paget's bone disease, a condition with accelerated bone turnover. For the study we recruited 11 patients with Paget's bone disease (5F, 6M; mean age 68.2 ± 3.6) in the acute stage of the disease; 10 healthy subjects (7F, 3M; mean age 66.5 ± 3.9) were also enrolled as controls. Plasma ET-1 levels were measured with RIA kits provided by Nichols Institute. Patients showed significantly (P< 0.01) higher ET-1 circulating levels than controls (6.35 ± 1.9 versus 3.4 ± 1.2 pg/ml) with a positive correlation (r = 0.63; P= 0.038) with serum alkaline phosphatase (ALP), but not with urinary hydroxyproline. The higher levels of ET-1 in our patients suggest a physiopathological role for this peptide in the disease and, could perhaps represent a new useful marker of Paget's bone disease activity.

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