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Biomedical subjects

P Parisi

Publications and source records attributed to P Parisi.

At least 19 recordsLinked to original sources
PubMed2006

De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation.

We present a patient with a de novo 12q nonmosaic pure duplication characterized by multiple minor anomalies and Dandy-Walker malformation. A neurological and behavioral assessment revealed psychomotor retardation and attention deficit/hyperactivity disorder (ADHD), with neurobehavioral abnormalities (auto- and heteroaggressive behavior). Fluoxetine therapy in this case markedly improved the neurobehavioral profile, with a decreased level of aggression. To define the extension of the duplicated region, we performed FISH analyses by using YAC probes. The analyses revealed a tandem duplication of the 12q22q24.33 region, with the proximal breakpoint located between 96.5 and 97.6 cM and the distal one between 154 and 161 cM. This is the first case of pure de novo duplication involving the 12q22q24.33 region. To better define the clinical phenotype associated with 12q partial duplication, we compared our case with the four patients with similar pure duplications previously described.

Abnormalities, Multiple↗
PubMed2005

Radio-frequency thermal ablation (RFTA) of small hepatocellular carcinoma in patients with cirrhosis. Experience at a single tertiary referral center.

AIM: Radio-frequency thermal ablation (RFTA) may prolong the survival of patients with small hepatocellular carcinoma (HCC) associated with cirrhosis. The aim of this study was to evaluate efficacy and safety of RFTA. METHODS: We performed the Kaplan-Meier analysis to estimate the survival rate in 69 consecutive patients with HCC (mean age 66+/-6.5 years; 44/25 male/female; 56 Child-Pugh class A and 13 Child-Pugh class B) treated by RFTA. A single lesion was observed in 60/69 (87%), two lesions in 8/69 (11.6 %), and 3 lesions in 1/69 (1.4 %) of patients. The tumor size was = or <3 cm in 60/69 (87%). RESULTS: Twenty-two patients died during follow-up. Overall survival rates were 81%, 66%, and 46% at 1-, 2-, and 3-years, respectively. Cancer-free survival rates were 64% at 1 year, 30% at 2 years and 25% at 3 years. The 3-years rate of appearance of separate new lesions and local recurrence were 27.5% (19/69) and 26 % (18/69). CONCLUSIONS: Our study shows that patients with HCC and compensated cirrhosis may benefit from RFTA treatment, especially for tumors = or <3 cm. Nevertheless, the high rate of recurrence (both local and distant) points out the palliative role of this therapy.

Aged↗
PubMed2004

Physical activity and genetic influences in risk factors and aging: a study on twins.

The association between physical activity and a decreased risk of age-correlated diseases appears to be well established. Nevertheless, the relation between past life style and current health in the elderly is likely to be affected by interactions of environmental and genetic factors in mediating the effects of exercise on disease prevention. As a contribution to this general issue, a retrospective twin study was undertaken so as to take advantage of the classical twin method in assessing genetic influences on health status in the elderly. A more specific aim was to possibly identify and compare genetically identical elderly twins with substantial differences in previous exposure to physical activity, but otherwise similar life style factors and events, thereby allowing the application of the co-twin case-control method, a powerful experimental approach in which even a few cases may prove significant. The study involved the assessment of general health status (based on structured interviews, clinical examination and several functional and laboratory analyses) and life style in 27 male twin pairs, aged 71.0 +/- 2.6 and classified (through DNA analysis) as 13 monozygotic and 14 dizygotic pairs. Past and present physical activity were evaluated through the Modified Baecke Questionnaire for Older Adults. In general, higher intrapair correlations in monozygotic than dizygotic pairs for almost all clinical variables were found, thereby confirming the relevance of genetic effects. More specifically, five monozygotic pairs discordant for past physical activity were found: contrary to expectations and, notwithstanding this major difference, they did not appear to be less similar than other pairs with respect to general health status. More data are clearly needed, and the implications of these findings, if confirmed, may leave room for complex interpretations. Tentatively, however, one might be led to conclude that whatever protective role physical activity and other life style variables clearly play in general health, this may in the end be unable to offset strong genetic dispositions, particularly so when it comes to major risk factors, which, after all, is perhaps only reasonable.

Aged↗
PubMed2002

Early viral clearance and sustained response in chronic hepatitis C: a controlled trial of interferon and ribavirin after high-dose interferon induction.

High-dose induction with alpha-interferon induces early viral clearance of hepatitis C and combined with ribavirin enhances sustained response. We assess whether adding ribavirin after viral clearance obtained by alpha-interferon induction increased the rate of viral eradication.Forty-one naïve patients with chronic hepatitis C were randomised to receive, after 4 weeks of 10 mU daily of alpha-interferon (induction), 3 mU daily for 22 weeks and 3 mU thrice weekly for 26 weeks of either interferon alone (monotherapy) or interferon plus 1000-1200 mg daily of ribavirin (combination therapy). At the end of the induction phase, 23 (56%) subjects had cleared HCV-RNA. During therapy, breakthrough was observed in four patients on monotherapy, but never in patients on combination therapy. The rate of clearance of HCV-RNA was different between monotherapy and combination therapy at the end of treatment (40% vs. 76.1%, P=0.02) and at the end of follow-up (5% vs. 57.1%, P=0.001). Twelve of the 23 patients who cleared HCV-RNA during induction, but only one of the 18 still HCV-RNA-positive after 4 weeks of therapy, had a sustained response (52.2% vs. 5.6%, P=0.001). Clearance of HCV-RNA at 1 week had a high positive predictive value for sustained response in combination therapy (PPV=0.75), but not in monotherapy (PPV=0.33). Induction with high daily doses of alpha-interferon obtains suppression of hepatitis C in more than half of patients, but ribavirin is needed to maintain a sustained response. The rate of sustained response is a function of the time to HCV-RNA clearance. In patients not responding to induction therapy addition of ribavirin does not obtain a sustained virological response.

Adolescent↗
PubMed2001

Latent coeliac disease in a child with epilepsy, cerebral calcifications, drug-induced systemic lupus erythematosus and intestinal folic acid malabsorption associated with impairment of folic acid transport across the blood-brain barrier.

UNLABELLED: A 15-year-old boy with epilepsy and cerebral calcifications, treated with valproic acid, ethyl phenylbarbiturate and ethosuximide, was referred for drug induced systemic lupus erythematosus. Anti-gliadin (AGA) and anti-endomysium (EMA) antibody tests were both positive (EMA titre 1:50). Endoscopic duodenal biopsy showed intense chronic inflammation without villous atrophy or crypt hyperplasia. The child was discharged with a gluten-containing diet. The follow-up showed an increase in EMA titre (1:200) and the persistence of AGA. After 15 months, a second endoscopic intestinal biopsy showed flat mucosa and villous atrophy. Three serum folic acid determinations showed 1.8, 2.4, 2.0 ng/ml (reference range 2.5-16.9 ng/ml) prior to the two intestinal biopsies, but returned to normal levels (11.8 ng/ml) after a gluten-free diet and oral supplementation together. Two years later, the frequency of epileptic seizures was unchanged despite ongoing anti-epileptic treatment and a gluten-free diet. As cerebral calcification and epilepsy are reminiscent of the findings in congenital folate malabsorption, oral loading tests with 5 mg folic acid were carried out and showed impaired intestinal absorption and a defect in the transport across the blood-brain barrier. Low CSF folate levels (13.9 and 12.6 ng/ml, reference range 15-40 ng/ml) and an alteration in the CSF/serum folate ratio (1.43 and 1.16, normal ratio 3:1) were also found as well as increased levels of cystathionine both in CSF (40 micromol/l, reference range 18-28 micromol/l) and in serum (32 micromol/l, reference value <0.10 micromol/l). CONCLUSION: Impairment of intestinal folic acid absorption with a defect in folic acid transport across the blood-brain barrier has been demonstrated in a case of epilepsy and cerebral calcifications associated with coeliac disease.

Adolescent↗
PubMed2001

Life-threatening intracranial hypotension after diagnostic lumbar puncture.

Intracranial hypotension syndrome as a complication of diagnostic lumbar puncture is a rarely observed entity. Intracranial hypotension syndrome is characterized by postural headache, neck pain/stiffness, blurred vision, nausea, vomiting, clouding of consciousness, dizziness and vertigo. The majority of cases resolve spontaneously with conservative treatment. Rarely, epidural blood patch is required. We report a 41-year-old man with multiple sclerosis, who developed intracranial hypotension syndrome after diagnostic lumbar puncture and who did not respond to conservative treatment. A subdural hematoma was subsequently found, when the patient showed considerable worsening of clinical conditions with life-threatening symptoms. Surgical evacuation of the subdural hematoma was not sufficient to improve significantly the patient's conditions, while complete symptoms remission was achieved 12 hours after epidural blood patch. We stress the need for epidural blood patch in any case of post-diagnostic lumbar puncture postural headache which does not resolve with conservative therapy.

Adult↗
PubMed2001

High-dose prolonged combination therapy in non-responders to interferon monotherapy for chronic hepatitis C.

BACKGROUND: Therapy of chronic hepatitis C non- responders to interferon monotherapy with standard doses of interferon plus ribavirin is usually ineffective. AIM: To evaluate the efficacy and tolerability of high-dose prolonged combination retreatment in non- responder patients. METHODS: Patients were retreated for 6 months with 6 MU alphaIFN on alternate days and 1000 or 1200 mg/day ribavirin. HCV-RNA negative patients continued therapy for an additional 6 months. RESULTS: Forty patients (29 males, mean age 49.7 years, 34 genotype 1b, 11 with F3 fibrosis) were treated. At 6 months, 20 (50%) patients were HCV-RNA negative but six of them discontinued therapy because of adverse events. A sustained response was achieved in 28% of patients (11/40). A sustained response was more frequent among patients with genotype non-1b than in those with genotype 1b (67 vs. 21%, P=0.005) and clearance of HCV-RNA in the first 3 months had a high predictive value for sustained response (100% of sustained responders vs. 24% of non-responders, P=0.0001). CONCLUSIONS: High-dose prolonged combination therapy in non-responders to IFN monotherapy leads to a higher rate of sustained response than the standard combination regimen. Tolerability may be a rate-limiting factor. Maximal effectiveness can be predicted in patients with non-1b genotype and in those who clear HCV-RNA soon after starting retreatment.

Adult↗
PubMed2001

Genes and olympic performance: a co-twin study.

An Olympic gold medalist in a 20 km competitive walking race and his identical twin brother, also an Olympic athlete in the same event but with inferior performance, were tested in order to obtain some further insight into the relative importance of genetic factors in modulating athletic excellence. Both twins had undergone the same strenuous, long-term training for 19 years since the age of 15 under the guidance of the same coach. An assessment of their bio-behavioural profiles at 40 years of age, i. e. 7 years after they ceased training, revealed that intrapair differences were negligible in physiological attributes but divergent in personality traits measured. Respective values for the Olympic winner and his identical counterpart were as follows: Body mass index 23.2 and 22.7, cardiac mass index 85.4 and 84.4 g x m2, squatjumping 25.3 and 27.3 cm, VO2 at running speed 9 km x h(-1) 33.1 and 33.6 ml x kg(-1) x min(-1), VO2 max 57.1 and 58.6 ml x kg(-1) x min(-1) (72.5ml x kg(-1) x min(-1) for the Olympic winner at age 22 yrs), reaction to anger 97 and 9 and anger expression 2 and 76 in percentile of the State-Trait Anger Expression Inventory. Findings suggest that although genetic constitution and years of physical training are prerequisites for making an Olympic athlete, success may be largely influenced by personality traits.

Adult↗
PubMed2001

Cyclopia: a radiological and anatomical craniofacial post mortem study.

Cyclopia is a rare foetal malformation characterized by a single palpebral fissure and a proboscis associated with severe brain malformation. Approximately 1.05 in 100,000 births including stillbirths are identified as cyclopian. Cyclopia is not compatible with life. The authors present an anatomical and histological study of the fronto-orbito-maxillary region carried out after 3-D CT reconstruction in a 21 week-old foetus with cyclopia. Anatomical and histological observations suggest that the integrity of the trigeminal nerves is very important for the normal development of the embryological structures of the face. Fusion of the facial processes in the midline takes place even if central prosencephalic structures are absent. For this reason the face in cyclopia, in both its positive and negative aspects, constitutes a model for the study of the normal development of this region.

Brain↗
PubMed2000

Proton MR spectroscopy in connatal Pelizaeus-Merzbacher disease.

BACKGROUND: Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and mental retardation. Various point mutations or duplications in the PLP gene on the X chromosome are responsible for PMD in the majority of patients. Autosomal recessive inheritance, particularly in the connatal form, cannot be excluded. Three different forms of the disease have been identified based on their onset, progression and severity of myelin pathology indicated by MRI features. Objective. To determine if MR spectroscopy is useful in the diagnosis of the connatal form of PMD. MATERIALS AND METHODS: Proton MR spectroscopy was performed on two children with connatal PMD. RESULTS: Our patients showed a markedly decreased peak of Cho. This alteration is well represented by quantitative analysis of the NAA-to-Cho ratio, which is the most important ratio affected. A significant decrease of the Cho-to-Cr ratio is also present. In the connatal form of PMD, global lack of myelination may be relevant, as demonstrated by a significant Cho peak reduction. CONCLUSIONS: Proton MR spectroscopy may be of diagnostic value in metabolic and destructive disorders of the brain. A greater number of patients with connatal PMD is needed in order to elucidate the significance of reduction of the Cho peak.

Brain↗
PubMed2000

Combined treatment of relapse of chronic hepatitis C with high-dose alpha2b interferon plus ribavirin for 6 or 12 months.

BACKGROUND/AIMS: Retreatment of relapses of chronic hepatitis C with a standard regimen of interferon plus ribavirin for 6 months obtains a sustained response in a minority of patients with high viraemia and genotype 1b. We aimed to assess whether increasing the interferon dose and prolonging the time of combined treatment may enhance the effectiveness, and also to evaluate the tolerability, and to identify the determinants of sustained response. METHODS: Fifty subjects with chronic hepatitis C who had relapsed after one or more courses of a-interferon monotherapy were randomised to receive alpha2b interferon (6 MU tiw) plus ribavirin (1000-1200 mg daily) for 6 or 12 months. ALT normalisation and serum HCV-RNA clearance at the end of treatment and 6 months after stopping therapy were used as markers for sustained response. RESULTS: End-of-treatment response was achieved in 48 patients (96%) and 27 (54%) had a complete sustained response. Patients treated for 12 months had a higher rate of sustained response (18/25, 72%; 95% C.I. 0.54-0.89) than those treated for 6 months (9/25, 36%; 95% C.I. 0.17-0.55, p=0.01). Twelve months of therapy was significantly more effective for patients with genotype 1b and baseline serum HCV-RNA greater than 450 000 copies/ml (p=0.005). Seven subjects (14%) discontinued treatment because of side effects. Logistic regression analysis showed 12 months of therapy, young age and low pre-treatment serum HCV-RNA to be independent predictors of sustained response. CONCLUSIONS: Relapsers with genotype 1b and high levels of HCV-RNA will benefit from a 12-month course of 6 MU tiw interferon plus ribavirin, while subjects with genotype 1b and low levels of serum HCV-RNA or with genotype other than 1b may be treated for 6 months.

Adult↗
PubMed2000

A female with central anticholinergic syndrome responsive to neostigmine.

Central anticholinergic syndrome is a rarely observed condition in children. The occurrence of this syndrome after ingestion of Solanum pseudocapsicum is infrequent because findings tend to be milder and localized to the gastrointestinal system, without central nervous system involvement. Most patients do not present with diagnostic problems because their relatives can usually report any ingestion of poisonous agents; however, when drug poisoning or plant ingestion is uncertain, a differential diagnosis with encephalitis must be considered. Physostigmine salicylate is the specific antidote because it crosses the blood-brain barrier because of its tertiary ammonium group. Neostigmine methylsulfate has a quaternary ammonium group, which prevents its penetration through the blood-brain barrier; hence its primary influence is believed to be due to its action on the peripheral nervous system. We describe a female with central anticholinergic syndrome caused by ingestion of Solanum pseudocapsicum. A slow intravenous infusion of neostigmine methylsulfate (0.03 mg/kg) immediately resolved the clinical picture. To our knowledge, this case is the first reported of central anticholinergic syndrome occurring after ingestion of Solanum pseudocapsicum in a child and the first report of a complete and rapid remission after intravenous neostigmine methylsulfate administration.

Ataxia↗
PubMed2000

Paroxysmal tonic upgaze: physiopathological considerations in three additional cases.

Paroxysmal tonic upgaze of childhood has been described as a benign distinctive syndrome of abnormal ocular movement, with or without concomitant ataxia. After the first observation of four children, a further 29 patients have been reported with a wide spectrum of neurologic abnormalities such as ataxia, unsteady of gait, learning disabilities and mental retardation at follow-up. Electroencephalograms were normal in all the subjects and magnetic resonance imaging showed deficient myelination in only one patient. Recently it has been suggested that paroxysmal tonic upgaze could be a heterogeneous syndrome, ranging from a simply age-dependent manifestation to a clinical appearance of a variety of disorders affecting the corticomesencephalic loop of vertical eye movement. Moreover, it also could be an early sign of more widespread neurologic dysfunction. We describe three patients who presented paroxysmal tonic upgaze; in one, ataxia was present; in the second child, ataxia and language disorder also were observed; and in the third patient paroxysmal tonic upgaze was associated with loss of muscle tone (drop-attack-like events). On magnetic resonance imaging, a pinealoma compressing the dorsal mesencephalic region was detected. On the basis of our observations, we suggest that any insult with periaqueductal mesencephalic gray-matter involvement could be considered the basic condition for this peculiar clinical manifestation.

Brain Neoplasms↗
PubMed1997

Treatment of small hepatocellular carcinoma associated with cirrhosis by percutaneous ethanol injection. A trial with a comparison group.

BACKGROUND: Ethanol injection has been reported to be effective in the treatment of hepatocellular carcinoma, but no controlled randomized trials have been performed. We therefore performed a trial comparing ethanol injection with an untreated, matched historical comparison group in the treatment of hepatocellular carcinoma. METHODS: From 1992 to 1993, 35 patients (14 Child's A and 21 Child's B cirrhosis) with small (< 4 cm) hepatocellular carcinoma associated with cirrhosis were treated by ethanol injection. Each patient was matched with an untreated case (followed up during the period 1984-89) for variables known to have independent prognostic value (age, Child's classification, number of lesions, alpha-fetoprotein, and modality of diagnosis). RESULTS: The 1-, 2-, and 3-year survival rates of ethanol-treated patients were 86% (95% confidence interval (CI), 69-94), 53% (95% CI, 34-68), and 33% (95% CI, 15-52), whereas the survival rates of the comparison group were 75% (95% CI, 56-85), 26% (95% CI, 13-41), and 14% (95% CI, 5-27) (P = 0.01). The 1-, 2-, and 3-year survival rates of Child's A were 100%. 87% (95% CI, 30-97), 71% (95 CI, 33-90), 71% (95% CI, 33-90) in the ethanol-treated patients and 92 (95% CI, 59-99), 43% (95% CI, 23-73), and 21% (95% CI, 23-72) in untreated patients. The 1-, 2-, and 3-year survival of Child's B patients were 76% (95% CI, 59-97), 32% (95% CI, 13-53), and 9% (95% CI, 0.8-33) in the treated group and 61% (95% CI, 40-83), 14% (95% CI, 3-32), and 9% (95% CI, 1-26) in the treated group. CONCLUSIONS: These data suggest that ethanol injection prolongs the life of patients with hepatocellular carcinoma associated with Child's A cirrhosis but seems not to influence the survival of Child's B patients.

Carcinoma, Hepatocellular↗