Anatomical brain connectivity can assess cognitive dysfunction in multiple sclerosis.

BACKGROUND: Brain disconnection plays a major role in determining cognitive disabilities in multiple sclerosis (MS). We recently developed a novel diffusion-weighted magnetic resonance imaging (DW-MRI) tractography approach, namely anatomical connectivitity mapping (ACM), that quantifies structural brain connectivity. OBJECTIVE: Use of ACM to assess structural connectivity modifications in MS brains and ascertain their relationship with the patients' Paced-Auditory-Serial-Addition-Test (PASAT) scores. METHODS: Relapsing-remitting MS (RRMS) patients (n = 25) and controls (n = 25) underwent MRI at 3T, including conventional images, T1-weighted volumes and DW-MRI. Volumetric scans were coregistered to fractional anisotropy (FA) images, to obtain parenchymal FA maps for both white and grey matter. We initiated probabilistic tractography from all parenchymal voxels, obtaining ACM maps by counting the number of streamlines passing through each voxel, then normalizing by the total number of streamlines initiated. The ACM maps were transformed into standard space, for statistical use. RESULTS: RRMS patients had reduced grey matter volume and FA, consistent with previous literature. Also, we showed reduced ACM in the thalamus and in the head of the caudate nucleus, bilaterally. In our RRMS patients, ACM was associated with PASAT scores in the corpus callosum, right hippocampus and cerebellum. CONCLUSIONS: ACM opens a new perspective, clarifying the contribution of anatomical brain disconnection to clinical disabilities in MS.

Investigation of quantitative magnetisation transfer parameters of lesions and normal appearing white matter in multiple sclerosis.

The aim of this study was to use quantitative magnetisation transfer (MT) imaging to assess the different pathological substrates of tissue damage in multiple sclerosis (MS) and examine whether the MT parameters may be used to explain the disability in relapsing remitting (RR) MS. Thirteen patients with RRMS and 14 healthy controls were prescribed conventional MRI and quantitative MT imaging at 3.0 T. A two-pool model of MT (where A refers to the free pool and B to the macromolecular pool) was fitted to the data yielding a longitudinal relaxation rate R(A), a relative size F of macromolecular pool, transverse relaxation times T(2) (A) and T(2) (B) for the two pools and a forward exchange rate RM(0) (B). The MT ratio (MTR) was also computed. The mean MT parameters of the normal appearing white matter (NAWM) and of lesions in patients, and of white matter in controls were estimated. MT parameters were significantly different between lesions and NAWM in patients, and between the NAWM and the white matter of controls (with the exception of T(2) (B) and the MTR). Two models were investigated using ordered logistic regression, with the expanded disability status scale (EDSS) as the dependent variable. In the first one, mean NAWM MT parameters and lesion load were entered as explanatory variables; in the second one, mean MT variables within lesions and lesion load were entered as explanatory variables. Unexpectedly, T(2) (B) was the parameter most significantly associated with EDSS in NAWM. This parameter might represent a weighted average of the relaxation times of spins with different molecular environments, and therefore its variation could indicate a change in the balance between subpopulations of macromolecular spins. Conversely, in lesions, RM(0) (B), T(2) (B), F, R(A), and lesion load significantly predicted disability only when combined together. This might reflect the complex interaction between demyelination, remyelination, gliosis, inflammation and axonal loss taking place within lesions.

Incidence and duration of breast-feeding in a group of primiparae after physiological delivery.

A study has been performed on the incidence and duration of breast feeding in a group of 103 primiparous women who delivered in the Obstetrics Department of Sassari in 1980. The most important maternal variables that could be related with breast feeding were maternal age, level of school education, maternal feelings concerning the present pregnancy and maternal information concerning the advantages of breast feeding.

[An anthropometric study of the population of Sassari from 3 to 36 months old: males]. / Studio antropometrico della popolazione sassarese da 3 a 36 mesi: maschi.

The average values (+/- SD) for height and weight and head circumference of 745 males 3 and 36 months of ages from the city of Sassari (Sardinia) have been determined. Numerical values and smooth curves from the 3rd to the 97th percentile for height and weight and head-circumference have also been calculated. The results were compared with those published by E. De Toni ed al. 20 years ago. The data show a significant increase in height and weight among sardinian children during the past 20 years. The availability of these new curves will permit a more correct evaluation of growth in Sardinian children.

[An anthropometric study of Sassari population 3 to 36 months of age: females]. / Studio antropometrico della popolazione sassarese da 3 a 36 mesi: femmine.

The average values (+ SD) for height and weight and head circumference of 666 females 3 and 36 months of ages from the city of Sassari (Sardinia) have been determined. Numerical values and smooth curves from the 3rd to the 97th percentile for height and weight and head-circumference have also been calculated. The results were compared with those published by E. De Toni et Al. 20 years ago. The data show a significant increase in height and weight among Sardinian children during the past 20 years. The availability of these new curves will permit a more correct evaluation of growth in Sardinian children.

[Height and weight increase in Sassarian children in the last 20 years]. / Incremento staturo-ponderale del bambino sassarese negli ultimi 20 anni.

Height and weight were obtained for 4349 children (2330 males and 2019 females), aged 3-11 years and attending the primary school in Sassari, Sardinian, in 1986. Findings were compared to those reported by De Toni and Aicardi for the same population in 1966 in order to find out possible changes occurred in this lapse of time. The results of our study show that in the last 20 years children have become taller and heavier, but at the same time they seem to be rather "fatter" than in the past.

[Incidence and duration of breast feeding in the city of Sassari from 1976 to 1987]. / Incidenza e modalità dell'allattamento al seno nella città di Sassari dal 1976 al 1987.

The authors have studied the incidence and duration of breast feeding (BF) among children from Sassari born in the period 1976 to 1987 (3608 full-term, normal infants). The data have shown a progressive decrease in the incidence and duration of B.F. from 1976 to 1983 followed by a progressive increase in the last 4 years of the study. The authors point out the need for structured incentive program aimed at a better education of the mothers concerning the advantages of breast feeding.

[The Silver-Russell syndrome]. / Sindrome di Silver-Russell.

The authors describe a case of Silver-Russell Syndrome with severe deficit growth. They display the major and minor features of the syndrome, and discuss about the possible pathogenetic causes.

[An anthropometric study of a Sassari population 3 to 6 years of age]. / Studio antropometrico della popolazione sassarese da 3 a 6 anni.

The average values (+/- SD) for height and weight of 812 males and 686 females between 3 and 6 years of age from the city of Sassari (Sardinia) have been determined. Numerical values and smooth curves from the 3rd to the 97th percentile for height and weight have also been calculated. The results were compared with those of the literature and particularly with those published by De Toni et Al. 20 years ago. The data show a significant increase in height and weight among Sardinian children during the past 20 years. The availability of these new curves will permit a more correct evaluation of growth in Sardinian children.

[Clavicular fractures in the newborn infant]. / La frattura della clavicola nel neonato.

The frequency of the fracture of clavicle in liveborn infants delivered in the Obstetric Department of the School of Medicine of Sassari was retrospectively evaluated for the years 1977, 1978 and 1979. Moreover, all the fractured live infants born in 1980 were prospectively identified and compared to a group of unmatched controls, which included the live infant born immediately before and that born immediately after the index case. The same procedure was adopted when the fracture was identified in two infants born consecutively. The following variables were studied: date and hour of delivery, sex, birthweight, gestational age, type of labour, presentation and mode of delivery, Apgar at one minute, parity of the mother. There were 108 cases and 194 controls. The frequency of the fracture of clavicle showed a linear increase from 2.2/100 live births in 1977 to 4.8/100 live births in 1980; males were slightly more affected than females and the right clavicle was more frequently fractured than the left one (67% for the four years altogether). In the prospective study the only statistically significant differences between cases and controls were found for birthweight (less than 0.001) and mode of delivery (P less than 0.025): cases weighed more and were more frequently born by instrumental delivery (vacuum or forceps) than controls; none of the fractured infants was born by caesarean section. One of the fractured infants was affected by osteogenesis imperfecta and two other presented a transitory paresis of the omolateral brachial plexus; in the remaining cases the prognosis was good.

[Anthropometric study of the Sassari population 6 to 11 years of age]. / Studio antropometrico della popolazione sassarese da 6 a 11 anni.

The average values [+/- SD) for height and weight of 1518 males and 1333 females between 6 and 11 years of age from the city of Sassari (Sardinia) have been determined. Numerical values and smooth curves from the 3rd to the 97th percentile for height and weight have also been calculated. The results were compared with those of the literature and particularly with those published by De Toni et Al. 20 years ago. The data show a significant increase in height and weight among Sardinian children during the past 20 years. The availability of these new curves will permit a more correct evaluation of growth in Sardinian children.

[Gene-dosage effect of esterase D enzyme on erythrocytes in a patient with Patau's syndrome]. / Effetto gene-dose per l'enzima esterasi D su eritrociti di un paziente con sindrome di Patau.

The study of gene/dosage effect may be essential in tracing the pathogenetic steps which lead from an unbalanced chromosome anomaly to a pathological phenotype. We present a newborn with a clinical and pathological picture compatible with a diagnosis of Patau Syndrome. A chromosome analysis confirmed the diagnosis showing the presence of trisomy 13. On chromosome 13 the enzyme Esterase D (ESD) is mapped, and we demonstrated the gene/dosage effect for ESD in the erythrocytes of our patient.

[Trisomy 18: phenotypic and biochemical variability]. / Trisomia 18: variabilità fenotipica e biochimica.

We report a case of Edward's syndrome showing some symptoms infrequently described in trisomy 18. The authors suggest that the phenotypic expression of symptoms rarely observed in the syndrome may be better interpreted as non specific consequence of the chromosomal imbalance, rather than directly related to genes on chromosome 18. A gene dosage effect for the enzyme Peptidase A, whose gene is mapped on chromosome 18, was also observed.

[The gene-dose effect for peptidase A on the erythrocytes of a patient with Edwards' syndrome]. / Effetto gene-dose per l'enzima peptidasi A su eritrociti di un paziente con sindrome di Edwards.

The study of gene/dosage effect may be essential in tracing the pathogenetic steps which lead from an unbalanced chromosome anomaly to a pathological phenotype. We present a newborn with a clinical and pathological picture compatible with a diagnosis of Edwards' syndrome. Chromosome analysis on lymphocytes and fibroblasts confirmed the diagnosis showing the presence of trisomy 18. On chromosome 18 the enzyme peptidase A is mapped, and we demonstrated the gene/dosage effect for Pep A in the erythrocytes of our patient.

White matter damage along the uncinate fasciculus contributes to cognitive decline in AD and DLB.

This study investigates the patho-physiological implications of the uncinate fasciculus (UF) in the two most common forms of dementia, namely Alzheimer's disease (AD) and dementia with Lewy bodies (DLB). Forty-five consecutive patients diagnosed with either probable AD or DLB, and 16 individuals with amnesic mild cognitive impairment (a-MCI) were investigated using diffusion tensor MRI. Thirteen healthy subjects (HS) were also studied as controls. In each subject, the UF was bilaterally reconstructed by probabilistic tractography. From each UF, macroscopic volume and correspondent fractional anisotropy (FA) (an index of microscopic white matter integrity) were derived for the whole tract, and for the frontal and temporal portion of the UF. No significant between-group volumetric differences were found. In contrast, FA values from the UF were reduced bilaterally in patients with dementia (either AD or DLB) compared to HS. In addition, patients with AD showed reduced FA values compared to those with a-MCI. No significant FA difference was found between AD and DLB patients, nor between a-MCI and HS. Finally, in all patients, UF FA values were associated with neuropsychological scores at tests exploring memory and executive functions. This study indicates that the UF is remarkably damaged in patients at the stage of dementia, independently from the diagnostic form. Moreover, this UF damage seems to be driven by temporal involvement in AD, for which a prodromal stage (a-MCI) is defined.