Biomedical subjects

Ambrogio Di Paolo

Publications and source records attributed to Ambrogio Di Paolo.

6 recordsLinked to original sources

PubMed2006

Interstitial deletion of a proximal 3p: a clinically recognisable syndrome.

Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not established yet. We report on a 30-months-old girl with distinct facial features (square facies, plagiocephaly, broad forehead, broad nasal bridge, long philtrum and low set ears) and psychomotor/speech delay associated with an interstitial deletion of 3p12 chromosomal band, del(3)(p12p12). Clinical manifestations of our child were compared with those of other eight patients with the same deletion previously described to further delineate the proximal 3p deletion syndrome.

Bradycardia↗

PubMed2005

Brain damage in preterm infants: etiological pathways.

Preterm newborns represent a high-risk population for brain damage, primarily affecting the white matter, and for related neurodevelopmental disabilities. Determinants of brain damage have been extensively investigated, but there are still many controversies on how these factors can influence the developing brain and provoke damage. The concept of etiological pathway, instead of a single determinant, appears to better explain pathogenetic mechanisms: the brain damage may represent the final outcome of exposure to several combinations of risk factors in the same pathway or in different pathways and can change according to the gestational age. The aim of this article is to review the current knowledge on the pathogenesis of brain damage in preterm infants, within the frame of two main theoretical models, the ischemic and the inflammatory pathway. The relationship between the two pathways and the contribution of genetic susceptibility to ischemic and/or inflammatory insult, in modulating the extent and severity of brain damage, is also discussed.

Adult↗

PubMed2003

Diffusion-weighted MR imaging in the early diagnosis of periventricular leukomalacia.

Diffusion-weighted imaging (DWI) has been shown to be highly sensitive in detecting acute cerebral infarction, but its use in detecting hypoxic-ischemic encephalopathy (HIE) in neonates is still controversial. Moreover, few reports concern pre-term infants with possible periventricular leukomalacia (PVL). We examined the ability of this technique to detect cerebral changes in the acute phase of PVL. Fifteen MR examinations were performed in 11 pre-term infants (mean age 3.4 days, range 2-6 days). Conventional DWI sequences, apparent diffusion coefficient (ADC) maps, and US obtained in the acute phase were compared. All the neonates underwent US follow-up up to 4 months after delivery; those with suspected PVL also underwent MRI follow-up for up to 2 months. Qualitative and quantitative evaluations were performed to assess the presence of DW changes compatible with PVL. Diffusion-weighted MRI showed signal hyperintensity associated with decreased ADC values in 3 subjects (27%). In these patients conventional MRI sequences were interpreted as normal and US (performed at the same time) as doubtful in 2 and compatible with PVL in 1 subject. The MRI and US follow-up confirmed severe damage in all these patients. In 1 neonate hemorrhages involving the germinative matrix were identified. In 8 neonates MRI was considered normal. In these subjects US follow-up (up to 4 months) confirmed no signs of PVL. Diffusion-weighted imaging may have a higher correlation with later evidence of PVL than does conventional MR imaging and US when performed in the acute phase of the disease.

Brain↗

PubMedDate not supplied

[Perinatal infections of B19 Parvoviruses]

This study is aimed at detecting perinatal infections of Parvovirus B19 (PV B19). The authors have analyzed specific antibodies (IgM and IgG) in the cord serum of 647 babies, born consecutively at the St. Eugenio Hospital in Rome. 156 of them (24%) were positive to IgG. The analysis of viral genome by PCR methods showed three positive subjects (2%). The three newborn babies did not develop any pathologies during a two-year follow-up and PCR became negative within the first 6 months. Data show that a mass pregnancy test is not useful for PV B19 detection, and that specific antibody analysis should be limited to pregnancies at risk. However healthy the infected patients may appear at birth, though, it is advisable to have them monitored for at least one year so as to avoid the risk of chronic infections.

Journal Article↗

PubMedDate not supplied

[Etiology of rare diseases caused by novel viral agents: a review of the most recent literature].

The authors describe the viral pathologies that have become rare in Italy and in the rest of the western world; they also analyze some novel agents mainly imported from the tropical and Asian Countries. For some of the microorganisms, they describe the various zones at risk, ways of transmission, clinical case, recent lab methods and preventive measures.

English Abstract↗

PubMedDate not supplied

Vertical transmission of HCV infection: prospective study in infants born to HIV-1 seronegative women.

OBJECTIVE: We performed a long-term prospective trial in infants born to HCV positive but HIV-1 negative women, with the aim of evaluating vertical transmission of HCV and correlated risks factors. METHODS: From April 1996 to May 2002, 50 women in the 3rd trimester of pregnancy or close to delivery we enrolled in the study. Anti-HCV antibodies were detected by 2nd and 3rd generation ELISA tests (ABBOTT HCV 2nd EIA generation and MEIA Abbot Labs, IL) . Reactivity was confirmed by a commercial immunoblot (Abbott Matrix HCV 2.0) ad HCV-RNA was detected by a nested-PCR technique. Infants were prospectively followed by clinical and laboratory tests (ALT levels, anti HCV Ab and HCV RNA) every 3 or 6 months for 16 to-80 months (average: 28.5 months). RESULTS: Twenty-eight of 50 women (56%) were found positive for HCV-RNA at delivery, and in 17/50 no risk factors for HCV infection were identified. Vertical transmission of HCV was detected in 3/28 infants born to viremic mothers (10.7%), while none of the 22 non-viremic mothers transmitted the infection to their children. Prolonged HCV seronegativity was documented in one of the three infected infants. During follow-up three other infants presented a single positive PCR value; one infant resulted HCV positive at 51 months of age. All infants were anti-HCV positive at delivery due to passive acquisition of antibodies, and in the 44 uninfected infants the antibody titres decreased progressively and became negative at various intervals (3-18 months). CONCLUSION: The overall vertical transmission rate was 6% but the risk of transmission of HCV infection is limited to women that are HCV RNA positive at delivery. This study shows that vertical transmission of HCV infection possibly occurs in immunocompetent infants with no HCV antibodies detected in the serum. Furthermore, we emphasise that a prolonged follow-up is absolutely mandatory in order ot establish the occurrence of active infection.

Child, Preschool↗