Characterization of Cerebellar Atrophy and Resting State Functional Connectivity Patterns in Sporadic Adult-Onset Ataxia of Unknown Etiology (SAOA).

Sporadic adult-onset ataxia of unknown etiology (SAOA) is a non-genetic neurodegenerative disorder of the cerebellum of unknown cause which manifests with progressive ataxia without severe autonomic failure. Although SAOA is associated with cerebellar degeneration, little is known about the specific cerebellar atrophy pattern in SAOA. Thirty-seven SAOA patients and 49 healthy controls (HCs) were included at two centers. We investigated the structural and functional characteristics of SAOA brains using voxel-based morphometry (VBM) and resting-state functional imaging (rs-fMRI). In order to examine the functional consequence of structural cerebellar alterations, the amplitude of low-frequency fluctuation (ALFF) and degree centrality (DC) were analyzed, and then assessed their relation with disease severity, disease duration, and age of onset within these regions. Group differences were investigated using two-sample t tests, controlling for age, gender, site, and the total intracranial volume. The VBM analysis revealed a significant, mostly bilateral reduction of local gray matter (GM) volume in lobules I-V, V, VI, IX, X, and vermis VIII a/b in SAOA patients, compared with HCs. The GM volume loss in these regions was significantly associated with disease severity, disease duration, and age of onset. The disease-related atrophy regions did not show any functional alternations compared with HCs but were functionally characterized by high ALFF and poor DC compared with intact cerebellar regions. Our data revealed volume reduction in SAOA in cerebellar regions that are known to be involved in motor and somatosensory processing, corresponding with the clinical phenotype of SAOA. Our data suggest that the atrophy occurs in those cerebellar regions which are characterized by high ALFF and poor DC. Further studies have to show if these findings are specific for SAOA, and if they can be used to predict disease progression.

Flow-synchronized nasal intermittent positive pressure ventilation for infants <32 weeks' gestation with respiratory distress syndrome.

Aim. To evaluate whether synchronized-NIPPV (SNIPPV) used after the INSURE procedure can reduce mechanical ventilation (MV) need in preterm infants with RDS more effectively than NCPAP and to compare the clinical course and the incidence of short-term outcomes of infants managed with SNIPPV or NCPAP. Methods. Chart data of inborn infants <32 weeks undergoing INSURE approach in the period January 2009-December 2010 were reviewed. After INSURE, newborns born January -December 2009 received NCPAP, whereas those born January-December 2010 received SNIPPV. INSURE failure was defined as FiO(2) need >0.4, respiratory acidosis, or intractable apnoea that occurred within 72 hours of surfactant administration. Results. Eleven out of 31 (35.5%) infants in the NCPAP group and 2 out of 33 (6.1%) infants in the SNIPPV group failed the INSURE approach and underwent MV (P < 0.004). Fewer infants in the INSURE/SNIPPV group needed a second dose of surfactant, a high caffeine maintenance dose, and pharmacological treatment for PDA. Differences in O(2) dependency at 28 days and 36 weeks of postmenstrual age were at the limit of significance in favor of SNIPPV treated infants. Conclusions. SNIPPV use after INSURE technique in our NICU reduced MV need and favorably affected short-term morbidities of our premature infants.

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Mitochondrial DNA depletion syndromes (MDSs) form a group of autosomal recessive disorders characterized by profoundly decreased mitochondrial DNA copy numbers in affected tissues. Three main clinical presentations are known: myopathic, encephalomyopathic and hepatocerebral. The first is associated with mutations in thymidine kinase 2 (TK2) and p53-induced ribonucleotide reductase B subunit (RRM2B); the second with mutations in succinate synthase A (SUCLA2) and B (SUCLG1); the third with mutations in Twinkle (PEO1), pol-gammaA (POLG1), deoxyguanosine kinase (DGUOK) and MPV17 (MPV17). In this work, we review the MDS-associated phenotypes and present our own experience of 32 MDS patients, with the aim of defining the mutation frequency of the known genes, the clinical spectrum of the diseases, and the genotype-phenotype correlations. Five of our patients carried previously unreported mutations in one of the eight MDS genes.

Prevalence and chemosusceptibility of Neisseria meningitidis and Haemophilus influenzae in a population of central Italy.

The purpose of this study was to determine the prevalence of nasopharyngeal carriers of Neisseria meningitidis and Haemophilus influenzae, and to evaluate their chemoresistance. N. meningitidis was more frequently isolated in adolescents (10-15 years). All of meningococci were susceptible to ceftriaxone and rifampin, only one isolate showed reduced susceptibility to chloramphenicol and four strains showed reduced penicillin susceptibility. The results show that these drugs are still effective for prophylaxis and treatment in our area. All strains of H. influenzae were susceptible to penicillin, ceftriaxone, chloramphenicol, rifampin, azithromicin and gentamicin. 6 nontypeable strains were resistant to sulfamethoxazole-trimethoprim, 7 strains of type a and c-f, and 3 non-typeable strains showed reduced susceptibility to tetracycline. In contrast with the current trend in the world, in our area the susceptibility of H. influenzae to betalactams was 100%, therefore these antibiotics are still the drugs of choice for treatment of invasive diseases.

Evaluation of PCR methods for 5S-rDNA and p30 genes to detect Toxoplasma gondii in blood and other clinical samples.

During the last few years the direct diagnosis of Toxoplasma gondii infection has taken advantage of PCR. The present work tested the sensitivity and specificity of PCR for rDNA and p30 genes. Using ascitic fluid from infected mice rDNA PCR detected 0.5 tachyzoite/ml, while nested p30 PCR 1 tachyzoite/ml. The rDNA amplification was positive in all clinical samples from a single immuno compromised patient (blood, urine and bronchoalveolar fluid). In the same patient nested p30 PCR was positive only in urine and bronchoalveolar lavage (BAL) fluid. The rDNA and p30 amplicons were never found in any amniotic fluids tested. These results could prove the usefulness of rDNA amplification to detect T. gondii in blood.

Antioxidant activity and general fruit characteristics in different ecotypes of Corbarini small tomatoes.

Sixteen ecotypes of Corbarini small tomatoes were studied. The antioxidant activity was evaluated with the DMPD (N, N-dimethyl-p-phenylenediamine) method in the water-soluble fraction (S-AA) and with the ABTS [2, 2'-azinobis(3-ethylbenzothiazoline-6-sulfonic acid)] method in the water-insoluble fraction (I-AA). S-AA and I-AA were strongly related to each other, varying to a large extent between the ecotypes considered. They were also significantly correlated with fruit weight, total solids, and refractive index. The combination of the latter variables (by multiple regression analysis) accounted for 36% and 44% of the total variability of S-AA and I-AA, respectively. Moreover, when the ecotypes were subdivided according to their shape (round, pear-shaped, oval, and long), S-AA and I-AA were both significantly higher in round tomatoes and lower in the long ones. In conclusion, the antioxidant activity varies to a considerable extent between different ecotypes of Corbarini small tomatoes. These differences are related to shape and some other fruit characteristics.

[Mortality rate correlated to AIDS and to other causes in i.v. drug addicts]. / Tasso di mortalita correlato all'AIDS e ad altre cause nei tossicodipendenti.

The authors observed over time a sample of 1212 drug addicts in the city of Bologna and pointed out that AIDS-related deaths are constantly increasing while deaths due to overdose, although high in the Emilia-Romagna region, are still steady since 1984. The mortality rate AIDS-related is higher in female drug users than in males, whereas males are more prone to die for overdose. HIV positivity is not a relevant factor associated to deaths for overdose and subjects aged between 25 and 44 years show the highest mortality rate. During the period 1984 to 1995, 126 drug addicts died (10.4% of the observed population) and the highest mortality rate was registered after 1989. No death was reported between 1977 and 1983.