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Biomedical subjects

D Messina

Publications and source records attributed to D Messina.

At least 19 recordsLinked to original sources
PubMed2006

Bilateral transverse sinus stenosis predicts IIH without papilledema in patients with migraine.

BACKGROUND: The headache profile of patients with idiopathic intracranial hypertension without papilledema (IIHWOP) may be indistinguishable from that of migraine. Bilateral transverse sinus stenosis (BTSS) has been found in the majority of patients with IIHWOP. The frequency of BTSS associated with IIHWOP in patients with migraine is unknown. OBJECTIVE: To detect the frequency of BTSS in adult patients with migraine and to investigate whether the presence of BTSS identifies patients with IIHWOP. METHODS: In a prospective study from December 2000 to November 2005, 724 consecutive patients with recurrent headaches who fulfilled International Headache Society diagnostic criteria for migraine underwent cerebral MR venography (MRV). A portion of these patients underwent a lumbar puncture (LP) to measure CSF pressure. MRV and LP were also performed in 70 age-matched control subjects. RESULTS: Six hundred seventy-five of the 724 patients with migraines had normal MRV. Seventy of these 675 patients underwent LP, and all of them had normal CSF pressure. Forty-nine (6.7%) of the 724 patients with migraine had BTSS. Twenty-eight of these 49 patients with BTSS underwent LP, and 19 (67.8%) had IIHWOP. The headache profiles of patients with BTSS and IIHWOP did not differ from those of patients with normal MRVs and CSF pressures within normal limits. CSF pressure was normal in both patients and controls with normal MRV. CONCLUSIONS: Of patients with migraine, 6.7% had bilateral transverse sinus stenosis; 67.8% of these patients had idiopathic intracranial hypertension without papilledema (IIHWOP). These results suggest that patients with migraine who present bilateral transverse sinus stenosis on cerebral MR venography should undergo lumbar puncture to exclude IIHWOP.

Adult↗
PubMed2006

MRI evidence of mesial temporal sclerosis in sporadic "benign" temporal lobe epilepsy.

OBJECTIVE: To determine whether there is MRI-detectable mesial temporal sclerosis (MTS) in patients with sporadic benign temporal lobe epilepsy (BTLE). METHODS: Brain MRIs were obtained from 101 consecutive, unrelated patients (51 women; mean age 37.3 +/- 17.5 years; range 10 to 83 years) with BTLE, who reported rarely or never having had seizures at the time of long-term (> 2 years) follow-up. The mean age at seizure onset was 22.3 +/- 17.4 years; the mean duration of epilepsy was 16.4 +/- 14.1 years. MRI diagnosis of MTS was based on the occurrence of hippocampal formation atrophy on T1 slices, an increased mesial temporal signal intensity alteration on fluid-attenuated inversion-recovery (FLAIR) or T2 images, or both. RESULTS: Thirty-nine of 101 patients (38.6%) had MRI evidence of unilateral MTS (19/39 left MTS, 20/39 right MTS), which correlated with the epileptiform activity. Hyperintense FLAIR and T2 signal with or without atrophy was observed in 24 of 39 individuals. There was no difference between patients with or without MRI-detected MTS in age at onset and duration of epilepsy. Family history of epilepsy or febrile convulsions (FCs) was more frequent in patients with MRI-detected MTS (36%) as compared with patients with normal MRI (22.7%), but the difference was not significant. Antecedent FCs were more frequent (p = 0.03) in patients with MRI-detected MTS (9/39; 23%) vs those with normal MRI (5/62; 8%). CONCLUSIONS: MRI-detected mesial temporal sclerosis is often encountered in patients with sporadic benign temporal lobe epilepsy.

Adolescent↗
PubMed2004

Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.

A large three-generation family with autosomal dominant type 1 porencephaly from southern Italy was studied. A high rate of miscarriages was observed. Of the nine affected individuals, four displayed a severe phenotype, and five had slight pyramidal signs or mild cognitive abnormalities. The MRI study disclosed unilateral porencephalic cyst, or colpocephaly. A genome-wide screen resulted in suggestive evidence for linkage to chromosome 13qter with a maximum logarithm-of-the-odds score of 3.16, from multipoint analysis, with marker D13S285.

Adolescent↗
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↗
PubMed2001

Functional MRI activation of individual interictal epileptiform spikes.

We used spike-triggered functional MRI in a patient with localization-related epilepsy to determine whether individual (as opposed to averaged) focal interictal epileptiform discharges (spikes) were associated with hemodynamic changes detectable with blood oxygen level-dependent functional MRI (fMRI). It was found that 15 of 43 spikes (34.9%) were associated with significant focal fMRI activation. Single event-related fMRI of interictal spikes is feasible in selected patients, giving complementary information to that provided by averaged fMRI data.

Brain Mapping↗
PubMed2001

The parkin gene is not a major susceptibility locus for typical late-onset Parkinson's disease.

We investigated the parkin gene in 118 patients with typical Parkinson's disease (PD), i.e. in patients who had an onset of PD after the age of 45 years. The study group included 95 subjects with sporadic PD and 23 subjects from 18 families with autosomal recessive PD. No pathogenetic mutations in the parkin gene were detected either in familial or in sporadic patients. Our findings indicate that the parkin gene is not involved in the pathogenesis of classic late-onset PD.

Age of Onset↗
PubMed2001

Silent celiac disease in patients with childhood localization-related epilepsies.

PURPOSE: To evaluate how many patients with a clinical picture of idiopathic childhood localization-related epilepsies may also have silent celiac disease (CD). This will help determine whether investigation for CD should be restricted to those patients with childhood partial epilepsy with occipital paroxysms (CPEO) or should be extended to all patients with childhood partial epilepsy (CPE) regardless of seizure type and electroencephalographic (EEG) paroxysms. METHODS: The study group consisted of 72 patients (31 girls and 41 boys; mean age, 12.6 +/- 4.28 years; age at onset, 6.4 +/- 3.7 years) who were observed consecutively over a 5-year period and who received an initial diagnosis of idiopathic CPE. A diagnosis of CD was confirmed by using enzyme-linked immunosorbent assay (ELISA) to assess the presence of antigliadin antibodies and the immunofluorescent undirected test to assess the presence of antiendomysium antibodies. RESULTS: Twenty-five patients had CPEO, whereas the remaining 47 had CPE with centrotemporal spikes (CPEC). None of the patients with CPEC had positive antibody tests. Of the 25 patients with CPEO, two (8%) had antiendomysium immunoglobulin (Ig) A antibodies. In both of these patients, the jejunal biopsy showed atrophy of the villi and hyperplasia of the crypts, consistent with a diagnosis of CD. Brain computed tomography (CT) was normal in one of these patients and revealed occipital corticosubcortical calcifications in the other. CONCLUSIONS: Our study indicates that CD screening should be performed routinely only in patients with CPEO.

Age Factors↗
PubMed2001

Spatio-temporal imaging of focal interictal epileptiform activity using EEG-triggered functional MRI.

EEG-triggered, blood oxygen level-dependent functional MRI (BOLD-fMRI) was used in 24 patients with localization-related epilepsy and frequent interictal epileptiform discharges (spikes) to identify those brain areas involved in generating the spikes, and to study the evolution of the BOLD signal change over time. The location of the fMRI activation was compared with the scalp EEG spike focus and the structural MR abnormality. Twelve patients (50%) had an fMRI activation concordant with the EEG focus and structural brain abnormalities where present (n = 7). In 2 other patients, the fMRI activation was non-concordant with electroclinical findings. The remaining 10 patients (41.7%) showed no significant fMRI activation. These patients had significantly lower mean spike amplitudes compared to those with positive fMRI results (p = 0.03). The time course of the BOLD response was studied in 3 patients and this revealed a maximum signal change 1.5 to 7.5 sec after the spike. In conclusion, EEG-triggered fMRI can directly identify the generators of interictal epileptiform activity, with high spatial resolution, in selected patients with frequent spikes. The superior spatial resolution obtainable through EEG-triggered fMRI may provide an additional non-invasive tool in the presurgical evaluation of patients with intractable focal seizures.

Action Potentials↗
PubMed2000

Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy.

To further elucidate the inheritance pattern and range of phenotypic manifestations of benign familial temporal lobe epilepsy (FTLE), we report a large family recently identified in southern Italy. There were 8 patients (4 men), ranging in age from 31 to 68 years in three generations. One affected patient was deceased at the time of the study. Genealogical study strongly supported autosomal dominant inheritance with incomplete penetrance, as three unaffected individuals transmitted the disease. Clinical anticipation could not be assessed because of the ascertainment method. Male to male transmission occurred. Identifiable antecedents for seizures were present in only two patients, who had a simple febrile convulsion and a closed head trauma, respectively. Migraine was overrepresented in this family. Onset of seizures ranged from 17 to 52 years (mean: 27 years). All patients had weekly simple partial seizures suggestive of temporal origin with vegetative or experiential phenomena. Very rare partial complex seizures occurred in 6/7 patients. One had two generalized nocturnal seizures as well. Two had previously been misdiagnosed as having gastritis or panic attacks, and one had not been diagnosed. Interictal anteromesiotemporal spiking was seen in 5/7 patients, and occurred mostly during NREM sleep. Neurological examination, brain CT or MR scans were normal. Antiepileptic medication always controlled the seizures.

Adult↗
PubMed2000

Interhemispheric threshold differences in idiopathic generalized epilepsies with versive or circling seizures determined with focal magnetic transcranial stimulation.

The interhemispheric difference of the motor-cortical threshold (IDMT) was studied with focal magnetic transcranial stimulation (TCS) in ten patients with idiopathic generalized epilepsy (IGE) who also displayed versive or circling seizures (IGEvc). The data were compared with those obtained from two control groups; 13 patients with IGE without asymmetrical motor seizures, and 25 normal volunteer subjects. The IDMT, referred to as the percentage of maximum stimulator output, was assessed by focal TCS applied to the hand areas. Seven patients with IGEvc and only one patient with IGE had an interhemispheric motor threshold beyond the normal range. The IDMT in IGEvc patients was significantly higher compared to that of IGE patients and normal individuals. An interhemispheric imbalance of cortical excitability may explain lateralized ictal motor manifestations in patients with IGEvc.

Adolescent↗
PubMed1999

Emotion-induced myoclonic absence-like seizures in a patient with inv-dup(15) syndrome: a clinical, EEG, and molecular genetic study.

We have described a clinical EEG and molecular genetic study of a 9-year-old boy with inv-dup(15) syndrome in whom seizures were induced by emotionally gratifying stimuli. The reflex seizures began 5-20 s after the onset of repeated cheek-kissing from his mother or after viewing of pleasant or funny events. They were characterized by bilateral discharges involving mainly the temporal regions and evolving into myoclonic absence-like seizures. Nonemotional stimuli, such as a pinch, sucking or rubbing his cheeks, or the sound of the kiss alone, failed to provoke seizures. The seizures were resistant to antiepileptic (AED) treatments. Molecular genetic investigations revealed a correct methylation pattern of the chromosomes 15, and three copies (two maternal and one paternal) of the segment 15q11-q13, including the GABRb3 gene. We hypothesize that an overexpression of cerebral gamma-aminobutyric acid (GABA)-mediated inhibition accounts for the severe epilepsy that we observed in this patient.

Child↗
PubMed1999

Apolipoprotein E polymorphisms and the risk of nonlesional temporal lobe epilepsy.

PURPOSE: To evaluate whether the inheritance of the apolipoprotein E (ApoE) epsilon4 allele is a risk factor for nonlesional temporal lobe epilepsy (TLE), and to determine whether the newly described -491 A/T ApoE polymorphism may independently affect the risk of nonlesional TLE. METHODS: The study group consisted of 63 patients (35 women and 28 men; age at onset of epilepsy, 30.6 +/- 19.6 years; mean (+/-SD). All of them had received a diagnosis of nonlesional TLE after a detailed clinical, electroencephalographic, and brain magnetic resonance investigation. The ApoE polymorphisms were determined from blood samples by standard methods. The molecular study also was performed in 220 age- and sex-matched normal individuals. RESULTS: There were no differences between TLE patients and controls in either allelic or genotypic frequencies of the ApoE and -491A/T polymorphisms. Moreover, no effect of ApoE or -491A/T polymorphisms was found on the age at onset and severity of epilepsy. CONCLUSIONS: The allelic and genotypic frequencies of ApoE polymorphisms in Italian patients with nonlesional TLE are comparable to control values, indicating that ApoE polymorphisms are not a significant genetic risk factor for the occurrence of nonlesional TLE.

Adult↗
PubMed1999

Idiopathic generalized epilepsies with versive or circling seizures.

OBJECTIVES: To describe the electroclinical features of the idiopathic generalized epilepsies (IGEs) with versive or circling seizures. METHODS: Sixteen patients with versive or circling seizures and interictal electroclinical features of IGE were studied. Patients with insufficient clinical or imaging data, with a follow-up period less than 1 year or with partial seizures in addition to the versive or circling ones were excluded from the study. All patients underwent full interictal clinical and neurophysiological studies. The EEG patterns of 13 versive or circling seizures from 4 patients were also analyzed. RESULTS: A specific IGE syndrome was recognized in 9 out of the 16 patients (56%). More specific, 1 patient had childhood absence epilepsy (CAE), 4 had juvenile absence epilepsy (JAE), and 4 had juvenile myoclonic epilepsy (JME). No specific IGE syndrome was recognizable in the remaining 7 patients (44%). These 7 patients had a juvenile epileptic syndrome (mean age at onset of seizures was 15.7 years) characterized by versive or circling seizures followed or not by generalized tonic-clonic fits. Three main EEG patterns were identified during versive or circling seizures: 1) generalized spike-and-wave discharges at 3-4 cps; 2) generalized polyspike-and-wave discharges at 1 to 2.5 cps beginning with generalized fast activity at 12-14 cps, and 3) generalized spike-and-wave discharges at 3-4 cps intermingled with fast activity at 12-14 cps. Most patients had good response to treatment on a single drug regimen (mainly valproic acid). CONCLUSIONS: Versive or circling seizures may occur in the context of an IGE. Although many individuals share the features of different IGE syndromes including CAE, JAE and JME, a consistent number of patients, who show circling or versive seizures solely, remain without a specific syndromic diagnosis. When occurring in the context of IGE, circling or versive seizures do not worsen the prognosis.

Adolescent↗
PubMed1998

Usefulness of latero-orbital electrodes in detecting interictal epileptiform activity--a study of 60 patients with complex partial seizures.

OBJECTIVES: The use of latero-orbital (Lo) electrodes is a routine practice in any EEG laboratory to evaluate eye motion, but there are no data about their usefulness in revealing interictal epileptiform abnormalities. METHODS: In 60 consecutive patients (27 men, 33 women, mean age 36.8 years, range 17-72) with complex partial seizures, we prospectively evaluated the utility of Lo electrodes in comparison with anterior temporal (AT) electrodes, for the detection of interictal epileptiform discharges (SW). RESULTS: No epileptiform abnormality was seen in 4/60 patients. Both AT and Lo electrodes were significantly superior to 10-20 electrodes for detection of both patients and foci. Indeed, the standard 10-20 system alone allowed the detection of only 39 independent epileptiform foci in 35/56 (63%) patients, while AT and Lo electrodes were necessary for detection of 23 epileptiform foci in the remaining 21/56 (37%) patients. Importantly, there was no statistically significant difference in detection between AT and Lo electrodes. CONCLUSIONS: Recordings from Lo electrodes are comparable to those from AT electrodes and are useful for localizing interictal temporal spiking activity. Lo electrodes may be substituted for basal electrodes in the day-to-day evaluation of patients with complex partial seizures.

Adolescent↗
PubMed1998

Mild non-lesional temporal lobe epilepsy. A common, unrecognized disorder with onset in adulthood.

OBJECTIVE: To compare mild vs. severe non-lesional temporal lobe epilepsy (TLE). METHODS: Data from 104 consecutive patients with non-lesional TLE were reviewed. Seventy-three of the 104 fulfilled the criteria for inclusion in this study of a follow-up period longer than three years at our Institute. Patients were considered to have a mild TLE if they were seizure free for at least three years after appropriate antiepileptic medication, or had rare (< or = 2/year) complex partial or secondarily generalized seizures for at least three years with or without appropriate antiepileptic therapy. Clinical, EEG and MRI data of mild vs. severe non-lesional TLE patients were compared on the basis of a cross-sectional study design. RESULTS: Of the 73 patients with non-lesional TLE included in the study, 43 (59%) had mild TLE, and 30 (41%) had severe TLE. Duration of epilepsy was significantly shorter (mean 15.2 +/- 10.5 years vs. 26.4 +/- 13.2 years) and age at onset was significantly higher (mean 34.3 +/- 15.3 years vs. 7.8 +/- 6.8 years) in mild than in severe TLE group. Patients with mild TLE had also a significantly higher prevalence of positive family history of epilepsy (37.2% vs. 10%), and a significantly lower occurrence rate of febrile convulsions (FC) (4.7% vs. 33.3%), mesial temporal sclerosis (MTS) (6.9% vs. 36.7%), and intelligence deficiency (0% vs. 20%). In mild TLE there was also a significantly high rate (58.1 vs. 0%) of delayed diagnosis (from 1 to 28 years), because of misdiagnosis (39.5%) or no medical counseling (18.6%). CONCLUSIONS: Mild non-lesional TLE is a common, unrecognized disorder mainly characterized by both onset in adulthood and high prevalence of familial history of epilepsy. The present findings suggest that mild non-lesional TLE may represent a clinical entity different from severe non-lesional TLE.

Adolescent↗
PubMed1997

Disappearance of periodic sharp wave complexes in Creutzfeldt-Jakob disease.

Periodic sharp wave complexes (PSWC) are sensitive and specific of Creutzfeldt-Jakob disease (CJD). Once they have emerged, PSWC may exceptionally disappear in the terminal stage of the disease, as a consequence of the flattening of scalp electroencephalogram (EEG). We document the disappearance of PSWC in serial EEG during the clinical course in two women (57 and 70 years of age) with pathologically proven CJD. Despite PSWC disappearance, diffuse theta-delta activity was still well recognizable. Moreover, external stimuli failed to trigger PSWC. The absence of PSWC in CJD might be due to the timing and frequency of EEG recordings. PSWC disappearance should not be interpretated as evidence against the diagnosis of CJD.

Aged↗
PubMed1997

Attitudes and beliefs of family physicians and gynecologists in relation to the prevention and treatment of osteoporosis.

The objective of this study was to evaluate the attitudes and beliefs of primary care physicians (PCPs) and obstetricians/gynecologists (O&Gs) in relation to the prevention and treatment of osteoporosis (OP) in postmenopausal women. A survey was mailed to a random sample of PCPs and to all O&Gs registered in the province of Alberta (Canada). The survey evaluated their practice patterns using closed-ended questions, Likert scaled items, and two case studies. Cases 1 and 2 were 52-year-old and 62-year-old healthy postmenopausal women, respectively, with no known risks for OP. Neither had received hormone replacement therapy (HRT). One hundred fifty-seven PCPs and 57 O&Gs participated in the study. Thirty-eight percent of the PCPs and 32% of the O&Gs stated that they never requested bone mineral density measurements (BMDm) in early postmenopausal women. Most would request BMDm only in the presence of risk factors. The most important criteria to request BMDm were chronic glucocorticoid use and recent fractures. For case 1, 7% of the PCPs and 11% of the O&Gs would request BMDm; 76% of the PCPs and 80% of the O&Gs would recommend HRT. For case 2, 29% of the PCPs and 47% of the O&Gs would request BMDm (p = 0.01); 43% of the PCPs and 49% of the O&Gs would prescribe HRT. In general, O&Gs were more inclined to intervene in relation to BMDm and HRT. O&Gs were also more likely to be influenced by clinical trials than PCPs (p < 0.001). Our findings show variations in the patterns of practice of physicians in relation to the prevention of OP. In general, use of densitometry appears to be low. The results of the case studies suggest that individual physician perceptions may be more influential than patient characteristics when requesting BMDm and prescribing HRT, particularly in older postmenopausal women. This group of healthy older women have approximately equal odds of being offered versus not being offered BMDm and HRT according to the physician they consult.

Alberta↗