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Biomedical subjects

E Pastorello

Publications and source records attributed to E Pastorello.

At least 19 recordsLinked to original sources
PubMed2006

Friedreich's ataxia: clinical heterogeneity in two sisters.

Diagnostic evaluation of two sisters affected by ataxia, with similar age of onset, revealed a characteristic trinucleotide expansion in the Friedreich's ataxia (FRDA) locus and two different phenotypic presentations. At onset the elder sister had retained deep tendon reflexes (FARR), while the younger sister presented classic FRDA. The GAA expansion in the patients' alleles proved to be similar in both siblings, ruling out that age at onset and clinical heterogeneity could be due to different FRDA mutations. On the whole, clinical and genetic data on these patients confirmed that FARR is a variant phenotype of FRDA.

Adult↗
PubMed2004

Prevalence of inherited ataxias in the province of Padua, Italy.

Few population studies are available on epidemiological indexes of hereditary ataxias. An investigation on the prevalence rate of these movement disorders is in progress for the Veneto region, the main area of northeast Italy with a population of 4,490,586 inhabitants. The first results of this epidemiological survey concern the province of Padua, which numbers 845,203 residents (January 1, 2002). The prevalence rate of inherited ataxias has been estimated at 93.3 cases per million inhabitants. The most common types appeared to be the autosomal dominant forms, namely spinocerebellar ataxia type 1 and 2, with a prevalence of 24 per 1,000,000. In the same population, with a prevalence rate of 6 per 1,000,000, Friedreich's ataxia was defined as the prominent recessive autosomal form. There were very rare cases of ataxia telangiectasia, ataxia with vitamin E deficiency and cerebellar ataxia with congenital muscular dystrophy, a recently identified autosomal recessive disease.

Adult↗
PubMed2001

Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype.

Cerebellar hypoplasia may, at neuroimaging studies, be found in association with congenital muscular dystrophy (CMD), although it is an extremely rare occurrence. We here report on three CMD patients who underwent a longitudinal evaluation of clinical and neuroimaging features for a mean period of 18 years. Case 1, a 22-year-old woman, and cases 2 and 3, brothers aged 26 and 20 years, respectively, had presented a mild to moderate muscular weakness and increased serum creatine kinase (CK) levels since birth. All cases were diagnosed in the first years of life, with identification of evident dystrophic changes at muscle biopsy and moderate to severe cerebellar hypoplasia at brain computed tomography (CT) scan. Subsequently, all the patients underwent a second muscle biopsy, with immunostaining and immunoblot analysis, which showed normal values for merosin, dystrophin and dystrophin-related proteins. During the longitudinal study, the patients underwent repeated neurological and psychiatric examinations, serum CK controls, intellectual ability assessments and neuroimaging evaluations (CT and/or magnetic resonance imaging (MRI)). In all cases, these investigations indicated a mild to moderate deficit in the proximal muscles and a clear-cut cerebellar syndrome which, it was assumed, had been present since the first years. The patients also presented some intellectual difficulties, with an IQ of 0.69 in case 1, 0.83 in case 2 and 0.61 in case 3. The clinical course of all the patients was static, and all symptoms of the combined muscle and brain involvement persisted. Nor were any changes in the cerebellar hypoplasia observed at repeat MRIs. Findings obtained by us on the longitudinal study and a review of the literature indicate that cerebellar hypoplasia and merosin-positive CMD constitute a particular clinical phenotype, mainly characterized by an ataxic syndrome associated with a non-severe muscular involvement and a possible mild intellectual impairment.

Adult↗
PubMed2000

Incidence of sensitivity to Anisakis simplex in a risk population of fishermen/fishmongers.

BACKGROUND: Anisakis simplex, a fish and cephalopodes parasite, can cause either gastrointestinal symptoms or allergic reactions in humans on eating/handling contaminated fish. OBJECTIVE: The aim of our study was to determine the capacity of Anisakis simplex to induce specific IgE production and allergic reactions following eating and handling fish in a population at risk. METHODS: We determined the levels of total IgE, specific IgE, and eosinophil count in 28 fishermen/fishmongers (group A) and 15 healthy donors (group B). A skin prick test (SPT) with extracts from Anisakis and the most common species of fish in our country, were also carried out. RESULTS: Specific IgE to Anisakis were found in 14 subjects of group A (13 of them had a positive SPT to the same extract) and none of group B (only one subject had a positive SPT). The SPT with fish extracts was positive in 4 patients of group A but in none of group B. Subjects in group A with specific IgE to Anisakis showed higher total IgE levels and eosinophil counts compared with either other individuals of the same group or to those of group B. CONCLUSIONS: These results indicate that fishermen/fishmongers are a population at risk for Anisakis simplex sensitization and suggest that this kind of sensitization should also be investigated not only in subjects like fishermen/fishmongers who live in countries where fish is likely to be contaminated with Anisakis simplex parasites, but also in those who handle fish for other reasons.

Adolescent↗
PubMed1999

Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy.

We present the clinical and neuroimaging findings of five patients (four males, one female; mean age 12 years) affected by congenital myotonic dystrophy and the correlation with their molecular genetic analysis. At birth all five presented severe muscular weakness and hypotonia, associated with feeding difficulties and respiratory distress. In the same patients, congenital clubfoot or more generalized arthrogryposis was also evident. Lymphocyte DNA was characterized in each by a CTG repeat longer than 1300 in the region of the myotonic dystrophy gene in chromosome 19. The patients' neurological condition was evaluated by clinical examination, intelligence tests, electroencephalography, and brain magnetic resonance imaging. All five suffered from some impairment of intellectual function (IQ ranged from 52 to 79). In three a longitudinal evaluation of the cognitive deficit detected no deterioration. In all patients magnetic resonance imaging showed some degree of ventricular dilatation, loosely correlated to the cognitive impairment; in three there was hypoplasia of the corpus callosum and in two mild abnormalities of supratentorial white matter. The relationship between the size of the CTG repeat expansion found in lymphocyte DNA and the cerebral abnormalities appeared inconsistent in this unusual myoencephalopathy of the newborn.

Adolescent↗
PubMed1999

Alterations of the retino-cortical conduction in patients affected by classical congenital muscular dystrophy (CI-CMD) with merosin deficiency.

Immunocytochemical analysis of the laminin alpha-2 (merosin) chain in the muscle of patients with Classic Congenital Muscular Dystrophy (Cl-CMD) differentiates the types of the disease associated with a merosin deficit from those that are merosin positive. Patients with Central Nervous System involvement in merosin negative Cl-CMD always present alterations of the white matter at RMI, but usually these are not clinically significant. While ocular malformations (microphthalmia, alterations of the anterior chamber, of the retina, or of the angle and cataract) and damage to the Central Nervous System are described in some subtypes of CMD (Muscle Eye Brain disease, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known. This study reports on four patients affected by merosin negative Cl-CMD. All these patients presented important alterations of the white matter associated with ventricular enlargement and, in one case, with pachygyria and micropolygyria. Refraction, visual acuity, ocular motility, anterior segment and fundus were examined. ERG Maximal, Cone and Rod response, VEP transient pattern reversal was carried out as well. Significant alterations at the standard ophthalmologic examination or of the electroretinogram responses were not registered while, in all cases, important modifications in retino cortical conduction (reduction in amplitude, increase in latency, reduction in amplitude on the lateral derivations) were observed, demonstrating involvement of the optic pathway at different levels during the course of this disease.

Adolescent↗
PubMed1991

Emergency treatment of allergic reactions to Hymenoptera stings.

Allergic reactions to Hymenoptera stings are frequently observed all over Europe. Rarely they may induce long-standing morbidity or even be fatal. Several investigations have shown that the emergency treatment given to these patients is often inadequate. Cutaneous symptoms respond well to antihistamines and also to adrenaline. Adrenaline is the mainstay for outside hospital treatment of more severe reactions involving the respiratory tract (bronchial asthma, laryngeal oedema) and the cardiovascular system (anaphylactic shock). Inhaled adrenaline is especially useful in respiratory symptoms, while parenteral application of adrenaline is prefered for shock treatment. All patients with severe respiratory or cardiovascular reactions must be hospitalized, treated under intensive care conditions and observed for at least 24 hr. Emergency medications including adrenaline for inhalation or for self-injection must be given to all patients with a history of systemic allergic reactions to hymenoptera stings. These patients must also get instructions for safety measures to avoid further stings. They should be referred to an allergist in order to evaluate the indication for venom immunotherapy.

Anaphylaxis↗
PubMed1989

A double-blind study of hyposensitization with an alginate conjugated extract of D. pteronyssinus (Conjuvac) in patients with perennial rhinitis. 1. Clinical aspects.

The efficacy of hyposensitization with a standardised extract of Dermatophagoides pteronyssinus (D. pteronyssinus) conjugated to alginate and containing known amounts of antigen P1 (Conjuvac) was tested in a double blind, placebo controlled, multi-centre study in 66 adult patients with perennial rhinitis. Patients received 11 weekly injections of increasing concentrations of Conjuvac containing from 56 x 10(1) to 448 10(3) IU D. pteronyssinus or placebo injections of the alginate diluent to some of which 5 micrograms of histamine has been randomly added. This was followed by 15 monthly injections of Conjuvac or placebo. The severity of nasal blockage, sneezing and rhinorrhoea was recorded twice daily in a diary and visual analogue assessments (VAS) made at each clinic visit. Nasal provocation testing (NPT) was performed with increasing concentrations of the same extract of D. pteronyssinus as used in the hyposensitization injections, and changes in nasal airways resistance measured by passive anterior rhinomanometry. VAS was recorded and NPT was performed on entry to the study and after the fifth, ninth and final monthly injection. Conjuvac injections were well tolerated. Large local reactions (greater than 5 cm) occurred within 30 min in only 1% of patients but later in 23%. No systemic reactions or anaphylaxis occurred within 30 min of injections, but urticaria or worsening of asthma and rhinitis was reported later in 3% of patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Adjuvants, Immunologic↗
PubMed1988

The oral allergy syndrome.

We have studied 262 patients suffering from hay fever and oral allergy syndrome after fruit and vegetable ingestion. The history and the results of RAST and skin test for pollen showed a contemporary presence of systemic and local symptoms in most of the patients; a close connection between age of onset of hay fever and oral allergy syndrome; a frequent association between allergy to some pollens and some vegetables, such as between apple, carrot, pear, cherry with birch pollen and tomato, melon, watermelon with grass pollen.

Adolescent↗
PubMed1988

Food allergy diagnosis protocol.

The protocol is proposed in a definite way for recurrent or chronic symptoms. In the first case, the diagnosis is made by PRICK, RAST and provocation tests with suspect foods. On 100 patients, the reliability of PRICK and RAST has been shown. In the second case, a non-allergenic diet and the recurrence of symptoms on the re-introduction of certain foods has permitted isolation of the causative foods and the differentiation of food allergy and intolerance. This has been done with 386 cases of urticaria and angio-oedema, where it has been shown that 1.9% of the reactions had a food-linked origin.

Chronic Disease↗
PubMed1986

[Occurrence of drug reactions].

The aim of this prospective study was to evaluate the incidence of allergic reactions to drugs compared to other kinds of medical emergencies admitted to the main Hospital in Milan during a 6 months period. At the same time we drew a list of drugs most frequently involved in allergic reactions, and a list of the most frequent symptoms. Using special forms, the medical staff collected patients' data: age, history of atopy, identification of the drug causing the reaction, and any previous reactions. Among 11,407 cases of medical emergencies, we found 163 (1.43%) patients showing drug reactions: the mean age was 27.3; 58.90% were female; atopy was present in 16.56%. The drugs most frequently involved were: pyrazon group (22%); ASA (20.86%); penicillin and derivatives (9.20%); sulfa drugs (6.14%); group B vitamins (4.30%); tetanus toxoid (4.30%); hyposensitizing extracts (3.68%); propionic acid derivatives (2.46%); paracetamol (1.84%); indomethacin (1.23%); rifampicin (1.23%); erythromycin (1.23%); glafenine (1.23%); others (17.80%). Urticaria and/or angioedema were the most frequent symptoms (86.51%), then anaphylactic shock (9.81%) and asthma (3.68%) with regard to anaphylactic shock only 6.20% of the patients had had a previous reaction to the same drug. From these data we can see that the incidence of drug reactions is very low compared to other medical emergencies; penicillin evidenced fewer reactions than expected, while the pyrazon group and ASA confirmed the data from literature.

Acetaminophen↗
PubMed1985

Evaluation of allergic etiology in perennial rhinitis.

In 197 patients with perennial rhinitis, 49 patients (24.9%) were found to be allergic to perennial inhalant allergens, 37 patients (18.8%) allergic to seasonal allergens, 52 patients (26.4%) had food intolerance, 12 patients (6.6%) showed evidence of nasal infection, and in 46 patients (23.3%) etiology was undetermined.

Adult↗
PubMed1984

Grass pollen immunotherapy: a single year double-blind, placebo-controlled study in patients with grass pollen-induced asthma and rhinitis.

Fifteen grass pollen--sensitive asthmatic patients were selected from 200 patients with grass pollenosis on the basis of positive SPTs and RASTs that were restricted to grass pollens (except Bermuda grass), no previous IT, and residence and occupation in an area monitored by serial pollen counts. They underwent a double-blind trial of specific IT with a mixture of three grass pollen--aqueous extracts (velvet, sweet vernal, and timothy) or placebo. After 10 mo, the mean maintenance dose of pollen extract (assayed by RAST inhibition) in eight actively treated patients was 6000 RAST units (range 3000 to 8000) and the mean total dose was 18,700 RAST units (range 10,200 to 30,000). Results were assessment done by the following clinical and immunological data: (1) during the pollen season, daily symptom scores; (2) PD 20% FEV1, IgE antibody to timothy by RAST in serum and in nasal secretions, serum IgG antibody to purified timothy allergen D by solid-phase radioimmunoassay, and the four IgG subclass antibodies by enzyme immunoassay were all measured before treatment and before and after the pollen season. Symptom scores of both treated patients and controls correlated with pollen counts (R = 0.88, p less than 0.05 and R = 0.71, p less than 0.05, respectively). There was a significant difference between the mean symptom score values of treated patients versus controls (Kruskal-Wallis test, p less than 0.001). No significant differences or changes either in the PD 20% FEV1 or IgE antibody to timothy in serum and nasal secretions were found in the two groups before or after IT.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1984

Neutrophil chemotactic factor of anaphylaxis (NCF-A) release in aspirin-induced asthma.

Neutrophil chemotactic activity (NCA) following oral challenge with aspirin (ASA) was determined in ASA-intolerant asthmatic subjects, and in ASA-tolerant asthmatic and normal subjects. There was a statistically significant fall in FEV1 and a rise in NCA (P less than 0.01) following challenge in the ASA-sensitive subjects compared with that of the ASA-tolerant subjects and normal controls. No significant difference was observed between the latter two groups. The chemotactic factor identified in this study had a molecular weight greater than 150 000 which is consistent with NCF-A (neutrophil chemotactic factor of anaphylaxis). The ASA-induced fall in FEV1 and rise in NCA was further studied in three of the ASA-intolerant asthmatic subjects, with and without pretreatment with inhaled sodium cromoglycate. In these subjects, the drug inhibited both the oral ASA-induced bronchoconstriction and the increase in neutrophil chemotactic activity. These results suggest that ASA-induced asthma involves mediator release from mast cells, as shown by the increase in NCA following ASA challenge and the protective effect of sodium cromoglycate which is considered to inhibit mast-cell degranulation.

Adult↗
PubMed1983

Prophylaxis of adverse reactions to foods. A double-blind study of oral sodium cromoglycate for the prophylaxis of adverse reactions to foods and additives.

Twenty-four adult patients with adverse reactions to foods and food additives took part in a double-blind crossover study to compare the efficacy of oral sodium cromoglycate, 1600 mg daily, with placebo. Duration of treatment was eight weeks. There were statistically significant differences (p less than 0.01) in favor of active treatment as assessed by patients' diary card scores during the last week of treatment. Few side effects were observed. Oral sodium cromoglycate appears to be both effective and well tolerated in the treatment of food allergies, particularly when used in conjunction with a maintenance elimination diet.

Administration, Oral↗