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D Di Bella

Publications and source records attributed to D Di Bella.

At least 37 records · Page 2Linked to original sources
PubMed1997

Functional promoter polymorphism of the human serotonin transporter: lack of association with panic disorder.

To probe the hypothesis of a role for a functionally relevant 44 bp insertion/deletion of the serotonin transporter promoter in the aetiopathogenesis of panic disorder, we determined the allele frequency of the variant in two samples (combined n = 158) of panic disorder patients (DSMIII-R) and compared it with its allele frequency in two ethnically matched control samples (combined n = 169). The fact that no difference could be observed (x 2 analysis) argues against a major role for this serotonin transporter promoter polymorphism in the aetiopathogenesis of panic disorder.

Alleles↗
PubMed1996

Systematic screening for mutations in the coding region of the human serotonin transporter (5-HTT) gene using PCR and DGGE.

Dysfunctions in serotonergic pathways may underlie several psychiatric disorders. The reuptake of serotonin (5-HT) from synaptic terminals is mediated by a specific transporter (5-HTT). Genetic variation in the gene coding for the 5-HTT protein might be involved in the predisposition to psychiatric disorders. A systematic screening of the whole coding sequence of the 5-HTT gene in mood disorder (MD) and obsessive-compulsive disorder (OCD) patients, as well as in healthy controls, using PCR and denaturing gradient gel electrophoresis (DGGE) revealed the presence of two mutations. The first was in intron 4, and the second was a C-->A transversion leading to an amino-acid exchange (Leu-->Met) in position 255 of the deduced protein sequence. No further occurrence of this substitution was found in an extended sample of patients and controls. Therefore, structural modifications of the 5-HTT gene do not seem to play either a major or minor role in the genetic predisposition to MD or OCD.

Adult↗
PubMed1996

Liver involvement in white patients with sickle-cell disease.

BACKGROUND: Liver involvement and cholelithiasis are common complications of sickle-cell disease. The incidence of clinically evident hepatic damage reported in the literature for black people varies from 15% to 30%, while no data are reported for white people. OBJECTIVE: To evaluate the liver involvement in 40 patients with homozygous sickle cell anemia (the beta 5 beta 5 form of sickle-cell disease) and 102 patients with double-heterozygous hemoglobin S and beta-thalassemia (65 with the beta 5 beta 0th and 37 with the beta 5 beta +th form of sickle-cell disease). SETTING: The Department of Pediatric Hematology and Oncology, University of Catania, Catania, Italy. PATIENTS: Outpatients with sickle-cell disease. RESULTS: We found that, in our patients, liver disease seems to be clinically irrelevant: only 2 of the 142 patients examined had notable alterations in hepatic function. Cholelithiasis was found in 42.1% of the subjects with the beta 5 beta 5 form of sickle-cell disease and in 26.8% of the subjects with the beta 5 beta th form. Age-related analysis revealed a greater incidence of cholelithiasis during the first years of life in the patients with the beta 5 beta 5 form of the disease than in patients with the beta 5 beta th form. CONCLUSION: Our data showed that liver involvement in sickle-cell disease is clinically irrelevant, reflecting the fact that the clinical expression of sickle-cell disease in Sicilian patients is moderate.

Adolescent↗
PubMed1996

Association study of a null mutation in the dopamine D4 receptor gene in Italian patients with obsessive-compulsive disorder, bipolar mood disorder and schizophrenia.

Although serotonergic dysregulation is a leading pathogenetic hypothesis for obsessive-compulsive disorder (OCD), some evidence also suggests a possible dysregulation of the dopaminergic system in this disorder. Therefore, individual differences in deoxyribonucleic acid (DNA) coding for dopamine receptor proteins might contribute to the genetic background of this disorder. Previously we reported a null mutation in exon 1 of the dopamine D4 receptor gene. The variant type is characterized by a 13 bp deletion and is predicted to code for a truncated, non-functional receptor. We assessed the frequency of this polymorphism in 157 OCD patients, 196 schizophrenics, 111 bipolars and 162 healthy controls of Italian descent. Our findings do not implicate a role for this mutation in conferring a susceptibility to OCD and confirm previous negative results regarding its involvement in schizophrenia and bipolar disorder.

Bipolar Disorder↗
PubMed1996

A novel functional polymorphism within the promoter of the serotonin transporter gene: possible role in susceptibility to affective disorders.

The serotonin transporter (5-HTT) is a candidate locus for aetiological involvement in affective disorders. Biochemical studies in suicides and depressed patients suggest that 5-HT uptake function is frequently reduced in affective illness. Furthermore, 5-HTT is targeted by widely used antidepressant drugs such as fluoxetine. We have performed an association study of a short variant of the 5-HTT-linked polymorphic region (5-HTTLPR), which restricts transcriptional activity of the 5-HTT promoter leading to low functional expression of the 5-HTT, in 454 patients with bipolar or unipolar affective disorder and 570 controls, derived from three European Centres (London, Milan and Würzburg). In all three centres, the frequency of the low activity allele was higher in patients than in controls (50% vs 45% in London, 45% vs 43% in Milan, 47% vs 40% in Würzburg). Although these differences were not individually significant, a stratified analysis of all three samples gave a significant overall odds ratio of 1.23 (95% confidence interval 1.02-1.49, P = 0.03). The excess of the homozygous low-activity genotype among the patients was even greater (odds ratio 1.53, 95% confidence interval 1.04-2.23, P = 0.02), suggesting partial recessively of the low-activity allele. Given the functional role of 5-HTT, our findings suggest that 5-HTTLPR-dependent variation in functional 5-HTT expression is a potential genetic susceptibility factor for affective disorders. If this finding is replicated, further work on genetic variants with low 5-HTT activity may facilitate the differential diagnosis of affective disorders, the assessment of suicidal behaviour, and the prediction of good clinical response to antidepressants.

Alleles↗
PubMed1995

Identification of two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene.

We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C-->T transition at a frequency of about 7% in German control subjects (n = 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 coding for amino acids Ala-Ala-Leu-Val-Gly-Gly-Val located in the first transmembrane domain of the dopamine D4 receptor. The mutation was identified in a single individual suffering from obsessive-compulsive disorder and panic disorder. We were unable to detect the deletion in patients with schizophrenia and bipolar affective disorder, nor in healthy controls.

Adult↗
PubMed1994

Lack of association between obsessive-compulsive disorder and the dopamine D3 receptor gene: some preliminary considerations.

Controversial results possibly suggesting an association between Tourette's Syndrome (TS) and excess of homozygosity at a Msc I polymorphism in the Dopamine D3 receptor (DRD3) gene have recently been reported. Since a relationship between Obsessive-Compulsive Disorder (OCD) and Tourette's Syndrome (TS) has been suggested, in this study we assessed the frequency of this 2-allele polymorphism in a sample of 97 OCD patients and in 97 control subjects. No statistically significant differences in allele or genotype frequencies were found. Thus this mutation in the coding sequence of the DRD3 gene is unlikely to confer susceptibility to OCD.

Adolescent↗
PubMed1994

Distribution of the MscI polymorphism of the dopamine D3 receptor in an Italian psychotic population.

The finding of contrasting results regarding an association between schizophrenia and the MscI polymorphism site in the dopamine D3 receptor gene prompted us to study the distribution of this polymorphism in an Italian sample of 52 patients suffering from delusional disorder, 85 schizophrenic patients and 78 control subjects. No significant differences in genotype, allele and homozygosity frequencies between schizophrenics and controls were found, while a significant, albeit modest, association was discovered between delusional disorder and both the 1 allele and the 1-1 genotype. This suggests a contribution of this gene to the liability to develop delusional disorder.

Adult↗
PubMed1991

Familial Jarcho-Levin syndrome.

Jarcho-Levin syndrome is a variety of autosomal recessive spondylocostal dysostosis characterized by severe deformity of the thoracic cage, leading to respiratory failure and early death. There are often associated dysmorphic features. The disease is more frequent in Puerto Ricans and rare in Europe. A Sicilian family with four affected individuals in two interrelated sibships is reported.

Abnormalities, Multiple↗
PubMed1991

Imaging of urinary tract malformations: intravenous urography and/or kidney ultrasonography?

We performed both kidney ultrasonography (KUS) and intravenous urography (IVU) in 56 children with urinary tract infections (UTI) to compare the effectiveness of these procedures in detecting urinary tract malformations (UTMs). In 7 patients where KUS findings were interpreted as normal, IVU detected the following UTMs: hydronephrosis (3), stenosis of the pelvi-ureteric junction (2), pelvi-ureteric duplication (1) and kidney dislocation (1). In 2 other patients, mild hydronephrosis diagnosed by KUS was not confirmed by IVU. With respect to IVU, KUS revealed a sensitivity of 77.4% and a specificity of 92%. In our experience, IVU is still irreplaceable in the diagnostic protocol of UTMs in children; KUS should be regarded as a useful complementary procedure.

Child↗
PubMed1985

Cranial irradiation and platelet monoamine oxidase in ALL.

Prophylactic cranial irradiation in acute lymphoblastic leukemia (ALL) has been held responsible for long-term neuropsychological sequelae. This study evaluates the activity of monoamine oxidase (MAO) in children with ALL in first complete remission both before and after cranial irradiation, given to prevent central nervous system involvement. There was a significant decrease (p less than 0.025) in platelet MAO activity shortly after cranial irradiation. MAO activity values were in the normal range in patients investigated 3 months or more after the radiation treatment was completed. The pathogenesis and clinical relevance of this decrease are discussed.

Adolescent↗
PubMedDate not supplied

Effects of fluvoxamine and citalopram in maintaining abstinence in a sample of Italian detoxified alcoholics.

A 16-week, randomized study was performed to test the efficacy of two selective serotonin reuptake inhibitors (SSRIs) fluvoxamine and citalopram, in decreasing relapse and craving in alcoholics, and to investigate possible differences in their clinical profile. After detoxification, each of the 81 patients (55 males and 26 females) was randomly assigned to one of three groups: 23 subjects did not receive any pharmacological treatment, 25 were treated with fluvoxamine, 150mg/day, and 33 with citalopram, 20 mg/day. All patients received standard cognitive-behavioural therapy. Craving was assessed twice a month using a 10-step scale. Every intake of alcohol was considered a relapse and the subject was taken out of the study. At the end of the study, both the fluvoxamine and citalopram groups showed a statistically higher rate of continuous abstinence (63.6 and 60.7%, respectively) compared to the group without pharmacological treatment (30.4%). Relapse severity did not differ among the three groups. Only citalopram showed a significant effect on craving throughout the study period. This study confirmed the efficacy of SSRIs as an adjunct to psychotherapy to prevent relapse in alcoholics. The relationship between the effects of these SSRIs on abstinence and craving, as well as the differences between their profiles, are discussed.

Adolescent↗
PubMedDate not supplied

[Genetic role in hernia of the esophageal hiatus. Description of the disease in 2 brothers].

Two brothers born 15 years apart from normal healthy parents were affected by esophageal hiatus hernia diagnosed at 4 and 8 months respectively. We found 37 other families with more than one member affected by EHH reported in the literature. Since the anomaly often runs asymptomatic, familiarity is probably more frequent than generally thought. The type of inheritance is still uncertain, but a multifactorial etiology is the most likely explanation.

Age Factors↗