Focal Cerebral Infarction in Newborn: Description of Three Cases:

We observed 3 full-term newborns with focal ischemic injury of the middle cerebral artery (MCA), in which diagnosis of MCA stroke was suspected by US and confirmed by CT scan and MRI. A four-year follow-up was carried out to study the effect of neonatal stroke on neurodevelopmental outcome. All children had a history of pre-perinatal risk factors: neonatal cerebral infarction in term infants, in fact, has many possible causes, including bacterial meningitis, inherited or acquired coagulopathies, trauma and hypoxia-ischemia. The prognosis of neonatal MCA infarction depends on early diagnosis, on the CNS plasticity mechanism and, finally, on medical therapy and neuropsychological rehabilitation

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 disease. We also assessed the presence and role of meiotic and somatic instability of the repeat. In this study, we identified 553 patients carrying biallelic RFC1 expansions and measured the repeat expansion size in 392 cases. Pearson’s coefficient was calculated to assess the correlation between the repeat size and age at disease onset. A Cox model with robust cluster standard errors was adopted to describe the effect of repeat size on age at disease onset, on age at onset of each individual symptoms, and on disease progression. A quasi-Poisson regression model was used to analyse the relationship between phenotype and repeat size. We performed multivariate linear regression to assess the association of the repeat size with the degree of cerebellar atrophy. Meiotic stability was assessed by Southern blotting on first-degree relatives of 27 probands. Finally, somatic instability was investigated by optical genome mapping on cerebellar and frontal cortex and unaffected peripheral tissue from four post-mortem cases. A larger repeat size of both smaller and larger allele was associated with an earlier age at neurological onset [smaller allele hazard ratio (HR) = 2.06, P < 0.001; larger allele HR = 1.53, P < 0.001] and with a higher hazard of developing disabling symptoms, such as dysarthria or dysphagia (smaller allele HR = 3.40, P < 0.001; larger allele HR = 1.71, P = 0.002) or loss of independent walking (smaller allele HR = 2.78, P < 0.001; larger allele HR = 1.60; P < 0.001) earlier in disease course. Patients with more complex phenotypes carried larger expansions [smaller allele: complex neuropathy rate ratio (RR) = 1.30, P = 0.003; cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) RR = 1.34, P < 0.001; larger allele: complex neuropathy RR = 1.33, P = 0.008; CANVAS RR = 1.31, P = 0.009]. Furthermore, larger repeat expansions in the smaller allele were associated with more pronounced cerebellar vermis atrophy (lobules I–V β = −1.06, P < 0.001; lobules VI–VII β = −0.34, P = 0.005). The repeat did not show significant instability during vertical transmission and across different tissues and brain regions. RFC1 repeat size, particularly of the smaller allele, is one of the determinants of variability in RFC1 disease and represents a key prognostic factor to predict disease onset, phenotype and severity. Assessing the repeat size is warranted as part of the diagnostic test for RFC1 expansion

Educazione Sanitaria odontostomatologica nella scuola: esperienza di un triennio

5nonenoneVANNINI A.; POZZI T.; QUARTESAN E.; MUGNAINI L.; GASPARINI R.Vannini, A.; Pozzi, Teresa; Quartesan, E.; Mugnaini, L.; Gasparini, R

Portatori di Staphylococcus aureus enterotossico tra gli addetti a due mense aziendali del senese

From the period of October 1987 to January 1988, 9 samples were taken from 16 workers in company canteens situated in the Sienna area. The study of enterotoxin staphylococci strains was carried out of the pharynx, nose, skin of the face and the hands. The investigation required the use of the Staphylo-Zyme P.B.I. kit and RPLA Oxoid set. The most frequently found enterotoxins were A and D, either alone or together