Biomedical subjects

M Sabbadini

Publications and source records attributed to M Sabbadini.

22 records · Page 2Linked to original sources

PubMedDate not supplied

No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility.

BACKGROUND: The SEL1L gene is located on human chromosome 14q24.3-31 close to D14S67 which has been previously proposed to be a type 1 diabetes mellitus locus (IDDM11). Sel-1 is a negative regulator of the Notch signalling pathway and SEL1L is selectively expressed in adult pancreas and islets of Langerhans. This suggests that SEL1L may be a candidate gene for IDDM11. METHODS: We have analysed two newly identified CA-repeat polymorphisms within the genomic sequence of the SEL1L locus for association with type 1 diabetes mellitus (T1DM) in 152 Danish T1DM-affected sib-pair families and in 240 Sardinian families (229 simplex and 11 sib-pair families). RESULTS: No evidence for association of the two SEL1L markers with T1DM was observed in either the Danish or the Sardinian families. We have also used allelic sharing methods to analyse linkage with T1DM in the IDDM11 region using the same markers and the Danish collection of affected sib-pair families. No evidence of linkage was observed (Z(max)=0.86). CONCLUSION: Although several lines of evidence suggest that SEL1L might be a candidate for IDDM11-conferred susceptibility to T1DM the present study does not support this hypothesis.

Alleles↗

PubMedDate not supplied

Epidemiologic survey of epilepsy among Army draftees in Lombardy, Italy.

We conducted an epidemiological survey of epilepsy among males born in 1967 who were called for selection for military service from the Lombardy region in northern Italy. Of 54,520 subjects, 258 had active epilepsy (prevalence, 0.47%). Idiopathic partial epilepsy was most common (29.1%), and generalized idiopathic and/or symptomatic epilepsy was least common (3.8%). In the year preceding the interview, 66.9% of the subjects had been free of generalized tonic-clonic seizures, 57.6% had been free of minor seizures, and 36.9% were seizure-free. Case histories revealed a background of febrile convulsions in 18.9% of subjects, status epilepticus in 11.3%, and a family history of epilepsy in 18.9%. Physical and mental development was normal in 75.5% of the subjects. Education level of subjects was lower than a control group, and the unemployment rate was the same as the local rate.

Adult↗

PubMedDate not supplied

[New operating rooms: problems related with ventilation and air quality].

Realizing the project of the new operating theatres, We bring out the importance of creating bright environments, rational and wide ways, a good indoor air quality, thermal comfort and occupational hygiene. Therefore for the first time We've installed an automatic system for permanent monitoring of gases, vapours and particles, associated with the study of ventilation, to evaluate the real condition of the mantenance and of staff behaviour.

Air Pollution, Indoor↗

PubMedDate not supplied

Toxic effects of high-dose deferoxamine treatment in patients with iron overload: an electrophysiological study of cerebral and visual function.

BACKGROUND AND METHODS: It is well known that deferoxamine (DFO) treatment in thalassemia major can produce ocular toxicity. In one experience, Visual evoked potentials (VEPS) to pattern reversal were formed to be altered in 4 out of 10 patients under conventional treatment with DFO, before supplementary high-dose i.v. deferoxamine. In all 4 cases the alterations consisted of bilaterally delayed P100 latency, always obtained by stimulation with high spatial frequency (15' checks) and associated in three cases with low spatial frequency (55'). Computerized EEG (cEEG) studies showed a generalized increase of slowing activity. All patients underwent high-dose DFO treatment. RESULTS: At the control performed at the end of treatment in all 4 cases with previous VEP alterations, a further delay in P100 latency was observed bilaterally while two of the six patients, without previous involvement, showed delayed responses when using checks of 15'. The EEG slowing activity was not modified. Three weeks after terminating i.v. DFO therapy, the patients were still under subcutaneous treatment (50 mg/kg/day); a more evident VEP recovery towards the initial values was observed in those patients without initial alterations. No significant changes were found between electrophysiological parameters and serum ferritin levels. CONCLUSIONS: Our results indicate that high-dose DFO therapy in patients with iron overload induces reversible visual impairment without significant changes in brain electrical activity. The employment of VEP in intensive chelation programs in thalassemia major is discussed.

Adolescent↗