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Biomedical subjects

A Pascotto

Publications and source records attributed to A Pascotto.

At least 19 recordsLinked to original sources

Rheological properties of aqueous Pluronic-alginate systems containing liposomes.

Rheological and erosion studies regarding a liposome-containing polymeric blend that is propaedeutic to its use in paving techniques in tubular organs, such as blood vessels, are reported. Attention is focused on an aqueous polymeric blend composed of Pluronic (PF127) and alginate (Protanal LF 10/60) because both polymers, when dissolved in water at a sufficiently high concentration, are subjected to different structural mechanisms, which are driven by temperature increase and addition of bivalent cations, respectively, and both result in marked viscoelastic and plastic properties. After proving the compatibility between PF127 and alginate, we show that the structural transition temperature of the blend, T(ST), can be properly modulated. In particular, we found that T(ST) for an aqueous solution of pure Pluronic 20% w/w is about 21 degrees C and that even slight reductions in polymer concentration result in considerable T(ST) decrease. The addition of salts or alginate (provided as Na-alginate) provokes a substantial decrease of T(ST) and thus the alginate concentration in the blend should not exceed 1% w/w. In addition, liposomes slow down the structural transition but do not substantially affect the rheological properties of the system in the final state at higher temperatures, thus showing that they can be added to the polymeric blend without significant effects. Finally, erosion tests show that after contact with a source of bivalent cations, the polymeric blend containing PF127 and alginate shows an erosion resistance neatly improved with respect to the simple structured Pluronic system having the same polymer concentration. As a whole, all these results constitute the basis for future potential applications of the considered polymeric blend in tubular organs such as blood vessels.

Alginates↗

Efficacy and safety of levetiracetam: an add-on trial in children with refractory epilepsy.

The aim of this multicentric, prospective and uncontrolled study was to evaluate the efficacy and safety of levetiracetam in 110 children with refractory epilepsy, of whom 21 were less than 4 years old. After a median follow-up period of 7 months, levetiracetam administration was effective (responders with >50% decrease in seizure frequency) in 39% of children, of whom 10 (9%) became seizure-free. The efficacy was higher in patients with localization-related epilepsy (58% of responders) than in those with generalized epilepsy (37% of responders). Levetiracetam was well tolerated. The main side effects of somnolence and irritability occurred in 14% of patients. In one patient acute choreoathetosis occurred after few doses of levetiracetam. Overall, the adverse effects were not severe. Children younger than 4 years were particularly tolerant. In conclusion, the present study confirms that levetiracetam is effective and well tolerated as an add-on treatment in children with refractory epilepsy. Our preliminary data also indicate that levetiracetam may be a valid therapeutic option for epilepsy in infants and young children.

Anticonvulsants↗

A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.

Patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K+ channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 years. Electrophysiologic studies showed that mutant K+ channel subunits failed to give rise to functional homomeric channels or exert dominant-negative effects when expressed with KCNQ2/KCNQ3 subunits.

Action Potentials↗

Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases.

We describe 3 children (2 siblings aged 10 and 3 years, and 1 sporadic case aged 13 years) with cerebellar vermis defect associated with oligophrenia, congenital ataxia, and hepatic fibrocirrhosis. Differently from what is reported in COACH syndrome, coloboma and renal involvement were absent. Since in one patient hepatic involvement was subclinical and early therapy seemed to prevent disease progression, the presence of liver disease should be carefully investigated in any patient with ataxia and midline cerebellar defects.

Adolescent↗

Benign idiopathic partial seizures in the velocardiofacial syndrome: report of two cases.

We describe two children with the velocardiofacial syndrome and benign partial-onset seizures. Both presented with slight dysmorphic traits, mild to moderate mental delay, and high-arched palate. A cardiac defect was present in only one of them. In each patient, sporadic rolandic or occipital partial-onset seizures with the clinical and electroencephalographic features of benign idiopathic childhood epilepsy manifested at age 3 and 5 years, respectively. Treatment was started only in one patient, with complete seizure control. These two cases show that benign partial epilepsy can be a component manifestation of the central nervous system-related symptoms of the velocardiofacial syndrome.

Abnormalities, Multiple↗

Topiramate in refractory partial-onset seizures in children, adolescents and young adults: a multicentric open trial.

PURPOSE: This study was to evaluate the efficacy and safety of topiramate (TPM) in refractory partial epilepsy in children, adolescents and young adults. METHODS: We performed a prospective open label add-on study in 55 patients (age 2-30 years, mean 15 years) with refractory partial seizures. Topiramate was added to one or two other baseline drugs and the efficacy was rated according to seizure type and frequency. RESULTS: TPM was initiated at a daily dose of 0.5-1 mg/kg, followed by a 2-week titration at increments of 1-3 mg/kg/24h, up to a maximum daily dose of 12 mg/kg. After 9 months of treatment, 11 patients (20%) had 100% fewer seizures and 25 patients (45%) had a more than 50% seizure reduction. TPM appeared to be effective both in cryptogenic (76.2%) and symptomatic (58.8%) partial epilepsies. Mild to moderate adverse events were present in 25 patients (45.4%), mostly represented by drowsiness, nervousness and hyporexia with or without weight loss. CONCLUSION: TPM was an overall effective and safe add-on drug both in cryptogenic and symptomatic childhood refractory partial seizures, the adverse reactions being generally mild or moderate.

Adolescent↗

A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia.

We investigated the molecular basis of hyperekplexia (STHE), an inherited neurological disorder characterised by neonatal hypertonia and an exaggerated startle response, in a kindred and identified a novel missense mutation in the pore-lining M2 domain of the alpha1 subunit of the glycine receptor (GLRA1). Sequencing analysis of all exons of the GLRA1 gene revealed a G1158A base transition in affected, heterozygous patients. The base transition results in a valine to methionine substitution at codon 260 in the middle of the M2 transmembrane domain. The location within the M2 domain suggests for this substitution a likely role in altering ion channel properties.

Amino Acid Sequence↗

Ocular complications of latanoprost in uveitic glaucoma: three case reports.

The purpose of this study was to report paradoxical reaction on the intraocular pressure after treatment with latanoprost in 3 cases of uveitic glaucoma. Serial clinical examinations of intraocular pressure by means of daily tonometric curves were performed in three patients with uveitic glaucoma before and after the beginning of latanoprost therapy. All measurements were performed by two doctors, but every patient's IOP was always measured by the same doctor. Adverse reactions, such as increased intraocular pressure and recurrence of inflammation, were noted to occur 7 to 16 days after rechallenging with topical latanoprost therapy for glaucoma in patients with history of uveitic glaucoma. The conclusion indicates that clinicians should be alerted to these possible complications of topical latanoprost therapy in uveitic glaucoma.

Antihypertensive Agents↗

Daily tonometric curves after cataract surgery.

AIM: To evaluate daily tonometric curves after cataract surgery in patients with cataract only and in patients with cataract and glaucoma. METHODS: 108 patients scheduled for cataract surgery were randomly allocated to two groups: 57 patients with cataract only (normal) and 51 with cataract and primary open angle glaucoma (POAG). All patients underwent extracapsular cataract extraction (ECCE) (manual technique with long wound), phacoemulsification (automated technique with short wound), or nucleus capture (manual technique with short wound). Intraocular pressure (IOP) was measured by Goldmann tonometry in all patients every 2 hours for 12 hours before the operation and at 1 and 6 months postoperatively. RESULTS: 79 patients completed the 6 month examination. ECCE resulted in greater reductions in IOP than the other procedures (ECCE: 27% and 36% in normal patients and those with POAG, respectively; nucleus capture: 20% and 31%, respectively; phacoemulsification: 19% and 22%, respectively). The fluctuations in IOP before and after surgery were not statistically significant. CONCLUSION: Cataract surgery in normal patients reduces IOP but does not eliminate fluctuations which are directly proportional to the IOP value and result partly from circadian rhythms. This important finding might influence our approach to treatment of patients with glaucoma.

Aged↗

Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings.

We describe two sisters affected by pontocerebellar hypoplasia type 2 associated with microcephaly, hypertonia, severe choreiform movements, an almost complete lack of psychomotor development, and generalized tonic-clonic seizures. Clinical and neuroradiological findings ruled out other conditions associated with pontocerebellar hypoplasia, i.e. pontocerebellar hypoplasia type 1, carbohydrate-deficient glycoprotein syndrome, and olivopontocerebellar hypoplasia/atrophy.

Agenesis of Corpus Callosum↗

Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.

Benign familial neonatal convulsions (BFNC) is a rare autosomal inherited epilepsy. We studied the KCNQ2 coding region in a large, four-generation, Italian family with BFNC. A missense mutation C686T predicting the change of one of the innermost arginine (R214W) of the key functional voltage sensor (S4 helix), has been found in all affected members. This substitution probably reduces the movement of the voltage sensor that precedes channel opening during voltage-dependent activation. Several mutations affecting the trans-membrane domain and the pore region of the K+ channels belonging to the KQT-like family have been described in some human diseases associated with altered regulation of cellular excitability (ie BFNC, some LQT syndromes and DFNA2). R214W represents the first mutation involving the region of the voltage sensor.

Amino Acid Sequence↗

Lamotrigine as add-on drug in children and adolescents with refractory epilepsy and mental delay: an open trial.

We report the results of an open trial with lamotrigine (LTG) as add-on drug in children and adolescents with refractory epilepsy and mental delay. Thirty-seven outpatients received LTG for a median period of 7 months at a daily dose of 5 and 15 mg/kg in valproate and non-valproate patients, respectively. The total number of seizures decreased by 100% in eight patients (21.6%) and by >50% in five patients (13.5%). However, the number of seizures remained unchanged in 20 patients (54.1%) and increased in four (10.8%). Lamotrigine was more effective in patients with typical and atypical absences, and in patients affected by atonic seizures. Six children (16.2%) developed generally mild adverse side-effects suggesting that LTG is well tolerated.

Adolescent↗

Vigabatrin as add-on therapy in children and adolescents with refractory epilepsy: an open trial.

Seventy-seven children and adolescents with drug-resistant epilepsies received vigabatrin as add-on therapy for a median of 18 months (range 4-36 months) at a dose of 50 mg/kg/day divided in two doses; patients with spasms were given a maximum dose of 100 mg/kg/day. In 23 patients (29.9%), seizure frequency decreased by 50-100% and in 12 patients (15.6%) by 25-50%. The number of seizures remained unchanged in 34 patients (44.1%) and increased in seven (9.1%). Vigabatrin was most effective in cryptogenic and symptomatic partial seizures (39% and 43%, respectively), and in infantile spasms (25%). Adverse events occurred in 20 patients (26%), though they were generally mild and transient, suggesting that vigabatrin is well tolerated.

Adolescent↗