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M Caracciolo

Publications and source records attributed to M Caracciolo.

18 recordsLinked to original sources
PubMed2004

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations described until now lead to unpaired cysteine residue in the epidermal growth factor-like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue.

Adult↗
PubMed2004

Safety of sentinel node biopsy in pregnant patients with breast cancer.

BACKGROUND: Lymphoscintigraphy (LS) and sentinel lymph node biopsy (SLNB) have typically been contraindicated for pregnant patients diagnosed with breast cancer because they are considered unsafe. PATIENTS AND METHODS: Twenty-six premenopausal non-pregnant patients who were candidates for LS underwent peritumoral injection of approximately 12 MBq of 99mTc-HSA nanocolloids. Static [15 min and 16 h post-injection (p.i.)] and whole-body (16 h p.i.) scintigraphic images were acquired. Activity concentration in the urine (0-2, 2-4, 4-8, 8-16 h p.i.) was evaluated by a gamma-counter. Activity in the bloodstream was measured at 4 and 16 h p.i. Thermoluminescent dosimeters (TLD) were placed, before tracer injection, on the injection site, between injection site and epigastrium (two points), and on the epigastrium, umbilicus and hypogastrium, and were removed before surgery. RESULTS: Scintigraphic images showed no radiotracer concentration except in the injection site and in the sentinel node. In all patients, the total activity excreted within the first 16 h was <2% of the injected activity. Activity in the blood pool was, at each time point, <1% of the injected activity. In 23 of 26 patients, all absorbed dose measurements were lower than the sensitivity of the TLD (<10 microGy); in the remaining three patients, the absorbed doses at the level of epigastrium, umbilicus and hypogastrium were in the following ranges: 40-320, 120-250 and 30-140 microGy, respectively. CONCLUSIONS: According to our standard technique (12 MBq of 99mTc-HAS), LS and SLNB can be performed safely during pregnancy, since the very low prenatal doses from this diagnostic procedure, when properly performed, do not significantly increase the risk of prenatal death, malformation or mental impairment.

Adult↗
PubMed2003

Association of tau gene polymorphism with Parkinson's disease.

We investigated the segregation of the dinucleotide GT repeat polymorphism in the intron between exons 9 and 10 of the tau gene in 300 patients with Parkinson's disease (PD) and in 197 normal controls. The A3 allele was more frequent in cases than in controls (30% versus 16%, p<0.001), and individuals carrying at least one A3 allele in their genotype had an increased risk of developing PD (odds ratio 2.78, 95% confidence interval 1.81-4.29). No significant differences were found between patients by considering the age at onset and the presence of family history or dementia. Our findings suggest a possible involvement of the tau gene in the pathogenesis of PD.

Age of Onset↗
PubMed2002

Body weight, levodopa pharmacokinetics and dyskinesia in Parkinson's disease.

We conducted a pharmacokinetic study in 164 patients with sporadic Parkinson's disease (PD) to address the relationship between body weight and levodopa pharmacokinetics. Patients underwent an oral acute levodopa test with 250 mg levodopa and pharmacokinetic variables were further assessed. Plasmatic levodopa area under the curve (AUC-l) and body weight were significantly and inversely correlated. Women were significantly lighter and more dyskinetic than men, and had greater AUC-l values. Our data suggest that during long-term treatment, lighter PD patients, especially women, may receive a greater cumulative dosage of levodopa per kilogram of body weight. This could explain gender differences for the development of levodopa-induced peak-dose dyskinesias observed during the course of the disease.

Administration, Oral↗
PubMed2002

Anti-GM1 ganglioside antibodies in Parkinson's disease.

OBJECTIVES: To determine whether anti-GM1 antibodies are increased in Parkinson's disease (PD). METHODS: Serum immunoglobulin M (IgM) and IgG anti-GM1 antibodies were detected by enzyme-linked immunosorbent assay (ELISA) in 147 patients with PD and in 186 age-matched normal control subjects. Sera were assayed at initial dilution of 1:800 for IgM and 1:200 for IgG and were considered positive at absorbance values exceeding the value of 0.05 for IgM and 0.1 for IgG. RESULTS: Forty patients with PD (27.2%) had sera positive for IgM anti-GM1 antibodies, whereas only five normal controls (2.7%) resulted positive (P < 0.0001). Most of patients (75%) with positive sera had a tremor-dominant form of PD. Only two patients with PD (1.4%) and none of normal controls had sera positive for IgG anti-GM1 antibodies. CONCLUSION: A consistent portion of parkinsonians, mainly with a tremor-dominant form of PD, may have increased circulating IgM anti-GM1 antibodies.

Aged↗
PubMed2001

Plasma levels of vitamin E in Parkinson's disease.

Oxidative stress has been implicated as a major contributor to selective neuronal death in Parkinson's disease (PD). Vitamin E is an antioxidant that may protect the brain from free radical-induced oxidative damage. It is, therefore, reasonable to hypothesize that low levels of vitamin E concentrations may increase the risk of developing PD. To elucidate the possible role of vitamin E in the pathogenesis of PD, we assessed the plasma levels of vitamin E, measured by high-performance liquid chromatography (HPLC), in 54 patients with PD. Vitamin E concentrations were also assessed in 93 age and sex matched normal individuals. The mean plasma levels of vitamin E did not differ significantly between these two groups (22.5+/-8.15 &mgr;mol/l for PD patients and 21.0+/-7.9 &mgr;mol/l for controls). The results of our study suggest that plasma vitamin E concentrations do not play a major role in the pathogenesis of PD.

Journal Article↗
PubMed2000

The long-duration response to L-dopa in the treatment of early PD.

OBJECTIVE: To investigate the long-duration response (LDR) to L-dopa resulting from different regimens of L-dopa. BACKGROUND: In clinical practice, L-dopa is usually administered without considering the LDR due to the drug. Moreover, it has not been established whether in early PD a multiple daily intake of small doses of L-dopa may induce a sustained LDR. METHODS: Twenty-four patients with early PD underwent a double-blind, crossover trial, comparing three different 15-day treatment periods with L-dopa: treatment A (250 mg every 24 hours); treatment B (250 mg every 8 hours); and treatment C (125 mg every 8 hours). After completion, 20 patients underwent a subsequent open-label randomized trial with prolonged treatments (250 mg every 24 hours or 125 mg every 8 hours) up to 3 months. LDR was measured at the end of each treatment. RESULTS: All patients achieved a sustained LDR after treatments A and B, whereas only 17% of patients reached a sustained LDR after treatment C. Overall, the LDRs resulting from treatments A and B had similar magnitude and were larger than the LDR deriving from treatment C. After 3 months of prolonged treatments, only three of 10 patients treated with 125 mg every 8 hours increased their LDR, whereas all 10 patients treated with 250 mg every 24 hours had a maximal and stable LDR. CONCLUSIONS: Sustained LDR to L-dopa is dependent on the amount of the single doses of the drug. A regimen scheduling small, divided doses during the day, as done in clinical practice, is a questionable therapy for the achievement of a sustained LDR.

Aged↗
PubMed2000

The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease.

The dopamine D2 receptor (DRD2) gene has been proposed as a candidate gene underlying several psychiatric and neurologic disorders. The aim of the present study was to examine if selected polymorphisms in the DRD2 gene are associated with Parkinson's disease (PD). We determined the allelic frequencies for four polymorphisms located in the DRD2 gene in a sample of 135 patients with PD and 202 normal control subjects. No significant difference was observed in the allelic frequencies between patients with PD and control subjects with regard to the -141C Ins/Del and the Ser311/Cys311 variants. On the contrary, the A1 allele of the TaqIA polymorphism and the B1 allele of the TaqIB polymorphism were more frequent in patients with PD than in control subjects (control subjects: TaqIA A1 = 14.6%, TaqIB B1 = 10.6%; patients with PD: TaqIA A1 = 20.7%, TaqIB B1 = 17.4%). Patients carrying the A1 allele or the B allele had an increased risk of developing PD (TaqIA, odds ratio: 1.71, 95% confidence intervals: 1.08-2.73; TaqIB, odds ratio: 1.83, 95% confidence intervals: 1.12-3.02). The TaqIA and TaqIB polymorphisms were in strong linkage disequilibrium, suggesting that these two polymorphisms convey the same information about the risk of presenting with PD. Genetic variation in the DRD2 gene may influence the risk of developing PD, thus confirming that the DRD2 gene is a susceptibility locus for PD.

Aged↗
PubMed1999

Apolipoprotein E polymorphisms and Parkinson's disease.

The apolipoprotein E (APOE) gene polymorphism has been studied in Parkinson's disease (PD) with conflicting results. Recently, a newly described functional polymorphism in the regulatory region of the APOE gene, (-491 A/T), has been associated with late-onset Alzheimer's disease. We studied the association between these two polymorphisms of the APOE gene with PD in a sample of 126 PD patients and in 119 controls from the same geographic background. Allelic and genotypic frequencies were not different between PD cases and population controls for either the APOE or -491 A/T polymorphism. The age at onset of the disease was not different according to the specific genotypes of the two polymorphisms of the APOE gene.

Adult↗
PubMed1999

APOE and risk of cognitive impairment in multiple sclerosis.

OBJECTIVES: The APOE gene polymorphism and the -491 A/T polymorphism in its regulatory region have been associated with an increased risk for developing Alzheimer's disease. We examined these polymorphisms in multiple sclerosis (MS) patients, to determine if a genetic predisposition may explain the risk for developing cognitive decline in MS. MATERIAL AND METHODS: Eighty-nine relapsing-remitting and secondary progressive MS patients underwent to a full neuropsychological battery as well as to determination of APOE and -491 A/T polymorphisms. Genetic analysis was also performed in 107 population controls. RESULTS: The APOE polymorphism was not associated with the risk of cognitive impairment in MS patients. The AA genotype of the -491 A/T polymorphism in the APOE regulatory region was more frequent in cognitively impaired than in cognitively preserved MS subjects. CONCLUSION: The AA homozygous state of the -491 A/T polymorphism of the APOE regulatory region is associated with cognitive impairment in patients with MS.

Adult↗
PubMed1995

GH secretion in thalassemia patients with short stature.

The physiological role of GH secretion on growth retardation remains to be elucidated especially in patients with beta-thalassemia. In the present study, we investigated IGF-1 circulating levels as well as GH release following GHRH alone or combined with some inhibitors of somatostatin: pyridostigmine and arginine. In thalassemic patients lower IGF-1 circulating levels appear to be negatively correlated with both aspartate aminotransferase and alanine aminotransferase as well as with ferritin circulating levels indicating a probable role of hepatic hemosiderosis in IGF-1 production. The authors however suggest that reduced IGF-1 secretion is not the main cause of growth retardation since this would have elicited an enhanced response of GHRH in the presence of a normal hypothalamic pituitary axis. In contrast, they noticed that GH response to GHRH when expressed as area under the curve was lower in thalassemic patients compared to controls. The combination of GHRH with either pyridostigmine or arginine induced a GH secretion in thalassemics which was comparable to that of controls. The results of this study lead to conclude that the alteration of GH secretion is due, in such patients, to an increased somatostatin activity.

Adolescent↗
PubMed1991

Skeletal changes in thalassemia major.

The authors clinically and radiographically examined 72 patients with homozygous beta thalassemia. The clinical data were compared to the degree of osteoporosis calculated by Singh's method. The results indicate a high incidence of skeletal changes in patients with thalassemia, including lower limb-length discrepancy (16.6%), upper limb-length discrepancy (5.5%), axial deviation of the limbs (8.3%), osteochondrosis (2.7%), and osteopenia (25%). Based on their observations, the authors identify skeletal changes of adulthood (osteopenia) and childhood (limb-length discrepancy, axial deviation, osteochondrosis). The authors hypothesize that osteoporotic changes are caused principally by hyperplasia of the bone marrow, which widens the medullary space and increases intramedullary pressure, leading eventually to osteoporosis.

Adolescent↗
PubMedDate not supplied

Osteoporosis in patients affected with thalassemia. Our experience.

The authors examine 72 patients affected with homozygous B-thalassemia; The study was conducted by clinical-hematological and radiologic examination. The Singh method is used to compare clinical data with the degree of osteoporosis. The results indicate that there is a high frequency of osteoporotic abnormalities in thalassemia. The authors postulate that osteoporotic lesions are principally caused by hyperplasia of the marrow, the overactive bone marrow widening the medullary space and the increased intramedullary pressure causing osteoporosis.

Adolescent↗
PubMedDate not supplied

[Variations of blood bilirubin levels in the newborn with and without retinopathy of prematurity (ROP)].

Retinopathy of prematurity (ROP) is a multifactorial disease where production of free radicals is a pathogenic factor. Bilirubin is regarded today as the most powerful antioxidant substance "in vitro". To test such effect "in vivo" we studied 219 premature infants, admitted to our Neonatal Intensive Case Unit from April 1991 to October 1992, evaluating their serum bilirubin levels from day two to seven and mean bilirubin level of first week for each child. We also calculated the mean rate of daily increase of bilirubin. Our results show that bilirubin parameters considered are higher in neonates which will develop ROP of every stage than in the control ones. These results therefore do not support the concept that bilirubin could have a role in the prevention of ROP.

Bilirubin↗