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Biomedical subjects

A Magli

Publications and source records attributed to A Magli.

At least 19 recordsLinked to original sources
PubMed2003

Treatment of blepharospasm with botulinum neurotoxin type A: long-term results.

PURPOSE: To describe the long-term efficacy and side effects of treatment of blepharospasm with botulinum neurotoxin type A (Botox). METHODS: A total of 178 patients with blepharospasm were treated by injections of botulinum toxin in the Eye Clinic of the University of Naples from 1980 to 2001. The severity of spasm for each patient was graded on a four-point scale. Duration of improvement was assessed and reported in months. RESULTS: Of 178 cases, 10 were lost to follow-up; of the remaining patients, 93% reported improvement after treatments. The mean duration of improvement was 3.6 months. Twelve patients (76%) who underwent more than 14 treatments maintained stable relief. Three patients (1.7%) had a total remission of spasms. Side-effects were local; none of the 168 patients experienced any systemic or toxic reaction. CONCLUSIONS: Botulinum toxin therapy for blepharospasm can provide long-lasting relief and reduction of spasms in the majority of patients. This therapy has the advantages of being safe, simple, and repeatable.

Adult↗
PubMed1999

Presence of bilateral limbal dermoids and choroidal osteomas in a family with inherited limbal dermoids.

We report a case of bilateral limbal dermoids and bilateral choroidal osteomas in a 14-year-old girl with no extraocular anomalies. Histopathological examination of a limbal lesion confirmed the clinical diagnosis of dermoid. Computerized tomography and ultrasonography were compatible with a diagnosis of choroidal osteoma. Limbal dermoids were present in the patient's mother, in a brother with Down syndrome, and in an aunt with no choroidal osteoma. The present pedigree is compatible with autosomal dominant inheritance of bilateral limbal dermoids. The same gene may be involved in the pathogenesis of ocular choristomas in same patients.

Adolescent↗
PubMed1997

A further observation of corneal dystrophy and perceptive deafness in two siblings.

We studied two siblings with the rare association of corneal dystrophy and perceptive deafness (Harboyan syndrome). To our knowledge, this is the third description of this hereditary disorder. The results of the clinical, genetic, audiometric, and ocular examination of the two siblings and the type of inheritance, which agree with the previous description of the syndrome, are reported. Various hereditary syndromes associated with corneal dystrophy are reviewed.

Adult↗
PubMed1996

Anaerobic Desulfonation of 4-Tolylsulfonate and 2-(4-Sulfophenyl) Butyrate by a Clostridium sp.

Alkyl- and arylsulfonates were tested as sole added sources of sulfur for the growth of enrichment cultures under strictly anaerobic denitrifying or fermentative conditions. Cultures that utilized taurine, ethylsulfonate, the dyestuffs orange II and acid red I, tolylsulfonate, 2-(4-sulfophenyl)butyrate (SPB), a dialkyltetralinesulfonate, and 1-(4-sulfophenyl)octane were readily obtained. We chose to work with the simple aromatic compounds and isolated a fermentative bacterium, strain EV4, which utilized SPB as the sole added source of sulfur in glucose-mineral medium. The organism was identified as a Clostridium sp. related to Clostridium beijerinckii. Clostridium sp. strain EV4 utilized seven of seven tested arylsulfonates quantitatively. The growth yield was about 3 kg of protein per mol of sulfur, whether sulfonate or sulfate was utilized. A major product specific to each sulfonate could be observed. Although no product was identified, the existence of anaerobic desulfonation has been established.

Journal Article↗
PubMed1995

Visual dysfunction in patients with mitochondrial myopathies. I. Electrophysiologic impairments.

Seventeen patients with biopsy-confirmed mitochondrial progressive external ophthalmoplegia underwent electroretinography and visual evoked potential testing to checkerboard-reversal stimuli to investigate subclinical visual dysfunction. Seven patients (41%) had impaired Snellen visual acuity that was never less than 0.6. Thirteen patients (76%) showed electroretinographic and/or visual evoked potential alterations, whereas six (35%) showed impairment on both tests. Two patients showed delayed VEP P100 latency without fundus, electroretinographic or visual acuity anomalies. Visual dysfunctions were not related to age at onset and course of the disease.

Adolescent↗
PubMed1995

Acetogenesis from dichloromethane by a two-component mixed culture comprising a novel bacterium.

A strictly anaerobic two-component culture able to grow exponentially with a doubling time of 20 h on a medium containing dichloromethane as the carbon and energy source was characterized. On a medium without sulfate, we observed (per mol of dichloromethane) a mass balance of 2 mol of chloride, 0.26 mol of acetate, 0.05 mol of formate, and 0.25 mol of carbon in biomass. One component of the culture, strain DMB, was identified by a 16S ribosomal DNA analysis as a Desulfovibrio sp. The other component, the gram-positive organism strain DMC, could not be isolated. It was possible, however, to associate strain DMC on a medium containing dichloromethane in a coculture with Acetobacterium woodii or Methanospirillum hungatei. Coculture of strain DMC with the Archaeon M. hungatei allowed us to specifically amplify by PCR the 16S rRNA gene of strain DMC. A phylogenetic analysis of the 16S ribosomal DNA sequence revealed that this organism groups within the radiation of the Clostridium-Bacillus subphylum and exhibits the highest levels of sequence similarity (89%) with Desulfotomaculum orientis and Desulfitobacterium dehalogenans. Since the novel organism strain DMC was able to grow acetogenically with dichloromethane when it was associated with one of three metabolically different partners and since, in contrast to strain DMB, strain DMC contained carbon monoxide dehydrogenase activity, this bacterium is responsible for both the dehalogenation of dichloromethane and the acetogenesis observed in the original two-component culture. The obligatory dependence of strain DMC on a partner during growth with dichloromethane is thought to stem from the need for a growth factor produced by the associated organism.

Journal Article↗
PubMed1991

A case of Parinaud's syndrome in a boy with delayed puberty.

The authors describe a case of Parinaud's syndrome in a 14-year-old boy with delayed puberty. The neurological examination and the neuroradiological work-up excluded the presence of cerebral pathological processes except for a pituitary microadenoma. As the sole presence of the microadenoma cannot justify gonadotropin deficiency, the authors in this case favor a form of isolated gonadotropin deficiency, and they suggest that the elevation paralysis can be put in the range of median line defects, such as labiopalatoschisis and hypoplasia of the olfactory bulbs, frequently associated with isolated hypogonadotropic hypogonadism.

Adenoma↗
PubMed1990

Intestinal giardiasis associated with ophthalmologic changes.

In an ophthalmologic study of 90 children with symptomatic giardiasis, ocular alterations were found in 10. Eight of these subjects presented an extensive "salt and pepper" degeneration of the pigmented epithelium involving 360 degrees of the midperiphery of both eyes. In one of the eight children, the pigmented epithelium showed atrophic areas, and in another there was a small hard exudate in the left eye. Of 2 remaining of the 10 children with ocular alterations, 1 presented with slight decoloration of the temporal half of the optic disc, and the other was affected by chorioretinitis. After single-dose antiprotozoic therapy (tinidazole 50 mg/kg), parasitologic tests were negative in all subjects and remained so throughout a 1-year follow-up. However, the characteristic epithelial lesion remained unaltered in all eight children for the entire follow-up period, as well as the optic disc decoloration in the only observed case. The child affected by chorioretinitis recovered after 3 weeks of combined treatment with bethametasone plus deflazacort. In two control groups, 1 of 200 healthy children and 1 of 200 children with gastrointestinal symptoms but without giardiasis, no case of "salt and pepper" degeneration of the pigmented epithelium or other significant ocular alterations was found.

Child↗
PubMed1990

The Gorlin-Goltz syndrome: case report.

Focal dermal hypoplasia is a syndrome characterized by anomalies of cutaneous, osseous, dental and ocular structures. Because of the ocular anomalies, this syndrome should be regarded as a fifth type of phakomatosis. The differences between the fibroblasts obtained from skin lesions and fibroblasts obtained from normal skin and controls could be the demonstration of mosaicism and the consequence of lyonization. The authors present the case of a baby with typical anomalies of the Gorlin-Goltz syndrome and abnormal growth characteristics of skin fibroblasts.

Basal Cell Nevus Syndrome↗
PubMed1989

Ptosis correction in the context of the treatment of external congenital ophthalmoplegia.

The results are reported of our operative experience with 22 cases of external congenital ophthalmoplegia. The familiality, the muscular enzymes and isoenzymes, and often the skeletal electromyography have been studied, with the latter three being significantly altered in most cases. The main indication for surgery is the need to improve the anomalous position of the hyperextended neck. In the presence of inherent ptosis, this is achieved by suspending the upper eyelid from the frontalis muscle by using an autogenous fascia lata. A review of the previously published reports on eyebrow suspension leads one to conclude that autogenous fascia lata is the best material for this purpose.

Adolescent↗
PubMed1986

Inheritance of Brown's syndrome.

Two families are described with members affected by Brown's syndrome. Another case of Brown's syndrome is described in a dizygotic twin. The authors suggest a hypothesis for the influence of heredity in Brown's syndrome.

Child↗
PubMed1986

Hereditary colobomatous anomalies of the optic nerve head.

The authors describe a family showing coloboma of the optic nerve associated with chorioretinal coloboma and coloboma of the iris. The absence of its occurrence in association with extraocular malformations points to an autosomal dominant mode of transmission, with reduced penetration. The authors describe the probable pathogenetic mechanism of the disorder and discuss the differential diagnosis both for chorioretinal coloboma (inflammatory chorioretinitis, especially by toxoplasma) and for colobomas of the optic disc (papillary pits and morning glory syndrome). The molecular basis of the malformation is however still unknown and thus a prenatal diagnosis is impossible.

Abnormalities, Multiple↗
PubMed1985

Genetic and ultrasound study of hereditary pure microphthalmos.

Standardized A scan echography is the best technique for the biometric parameters of the eye. This has been very useful in studying the sizes of the anterior and posterior segments of the eye in hereditary microphthalmos. Echography and a genetic study led to a new classification of hereditary microphthalmos.

Aged↗