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Biomedical subjects

A Toscano

Publications and source records attributed to A Toscano.

At least 55 records · Page 3Linked to original sources
PubMed1998

Dp116, talin, vinculin and vimentin immunoreactivities following nerve transection.

The time course of the expression of Dp116, talin, vinculin and vimentin in rat sciatic nerve was investigated after experimental transection. Dp116 was still found at 5 days after experiment in some degenerating myelinated fibers of both proximal and distal stumps. The findings are consistent with the known preservation of electrical excitability of the distal nerve in the first days after injury. Some regenerating nerve fibers into the neuroma also expressed Dp116 at 25 and 40 days after nerve transection. Talin and vinculin markedly and diffusely immunostained the neuroma. Talin in the distal stump and vimentin in both proximal and distal stumps were found decreased during the time course of the experiment. Vinculin binding increased in the distal stump, due to a real overexpression or simply to a cross-reaction to degeneration products.

Animals↗
PubMed1998

Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.

Patients with autosomal recessive spinal muscular atrophy (SMA) usually carry a homozygous deletion of exons 7 and 8 of the telomeric survival motor neuron (SMN(T)) gene, although an isolated deletion of SMN(T) exon 8 has never been found. We now report on 2 patients with the typical features of SMA types II and III, who carried a homozygous deletion of SMN(T) exon 8 but retained SMN(T) exon 7. Importantly, to exclude a sequence conversion event of telomeric exon 8, we amplified a fragment that spanned exons 7 and 8 of the SMN gene. The resulting 1,010-base pair (bp) fragments were subjected to nested polymerase chain reaction (PCR) of exon 7. The subsequent restriction analysis failed to show any products of telomeric exon 7, as the site for primer 541C1120 was lost in both alleles. These findings indicate a homozygous deletion of SMN(T) exon 8. Direct sequencing of the cloned 1,010-bp fragment further confirmed that these 2 SMA patients did not possess telomeric exon 8. The more severely affected child also showed a deletion of the neuronal apoptosis inhibitory protein (NAIP) gene. The present findings provide evidence that an isolated deletion of SMN(T) exon 8 is associated with the milder subtypes of SMA. Our data also demonstrate that the additional deletion of the NAIP gene exacerbates the severity of the disease.

Adult↗
PubMed1998

Ultrasound biomicroscopic and conventional ultrasonographic study of ocular dimensions in primary angle-closure glaucoma.

OBJECTIVE: To determine the biometric findings of ocular structures in primary angle-closure glaucoma (PACG). DESIGN: An observational case series with comparisons among three groups (patients with acute/intermittent PACG [A/I-PACG], patients with chronic PACG [C-PACG], and normal subjects [N]). PARTICIPANTS: A total of 54 white patients with PACG (13 male, 41 female) were studied: 10 with acute, 22 with intermittent, and 22 with chronic types of PACG. Forty-two normal white subjects (11 male, 31 female) were studied as control subjects. Only one eye was considered in each patient or subject. TESTING: Ultrasound biomicroscopy (UBM) and standardized A-scan ultrasonography (immersion technique) were performed in each patient during the same session or within 1 to 3 days. MAIN OUTCOME MEASURES: The following A-scan parameters were measured: anterior chamber depth (ACD), lens thickness (LT), axial length (AL), lens/axial length factor (LAF), and relative lens position (RLP). Ten UBM parameters were measured, the most important of which were anterior chamber angle, trabecular-ciliary process distance (TCPD), angle opening distance at 500 microm from the scleral spur (AOD 500), and scleral-ciliary process angle (SCPA). RESULTS: Compared to normal subjects, the patients with PACG presented a shorter AL (A/I-PACG = 22.31 +/- 0.83 mm, C-PACG = 22.27 +/- 0.94 mm, N = 23.38 +/- 1.23 mm), a shallower ACD (A/I-PACG = 2.41 +/- 0.25 mm, C-PACG = 2.77 +/- 0.31 mm, N = 3.33 +/- 0.31 mm), a thicker lens (A/I-PACG = 5.10 +/- 0.33 mm, C-PACG = 4.92 +/- 0.27 mm, N = 4.60 +/- 0.53 mm), and a more anteriorly located lens (RLP values, A/I-PACG = 2.22 +/- 0.12, C-PACG = 2.34 +/- 0.16, N = 2.41 +/- 0.15). The LAF values in A/I-PACG, C-PACG, and N were 2.28 +/- 012, 2.20 +/- 0.11, and 1.97 +/- 0.12, respectively. Anterior chamber angle (A/I-PACG = 11.72 +/- 8.84, C-PACG = 19.87 +/- 9.83, N = 31.29 +/- 9.18 degrees) and SCPA (A/I-PACG = 28.71 +/- 4.02, C-PACG = 30.87 +/- 6.04, N = 53.13 +/- 9.58 degrees) were narrower, TCPD (A/I-PACG = 0.61 +/- 0.12 mm, C-PACG = 0.71 +/- 0.14 mm, N = 1.08 +/- 0.22 mm) and AOD 500 shorter (A/I-PACG = 0.13 +/- 0.09 mm, C-PACG = 0.21 +/- 0.10 mm, N = 0.36 +/- 0.11 mm) in patients with PACG. All the biometric differences proved statistically significant using the one-way analysis-of-variance test. CONCLUSIONS: In patients with PACG, the anterior segment is more crowded because of the presence of a thicker, more anteriorly located lens. The UBM confirms this crowding of the anterior segment, showing the forward rotation of the ciliary processes. A gradual progressive shift in anatomic characteristics is discernible on passing from normal to chronic PACG and then to acute/intermittent PACG eyes.

Acute Disease↗
PubMed1998

Myopathy as the persistently isolated symptomatology of primary autoimmune hypothyroidism.

Although disorders of thyroid function may cause a wide range of muscle disturbances, an overt myopathy has been rarely reported as an isolated clinical presentation of hypothyroidism. We observed 10 patients (5 males and 5 females) who had been referred to the department of neurology because of muscular fatigability, myalgia, cramps, or proximal weakness. Laboratory investigation showed that all patients had hypothyroidism due to Hashimoto's thyroiditis (atrophic variant in 9/10). Classic symptoms/signs of hypothyroidism such as lethargy, constipation, cold intolerance, myxedematous facies, and/or bradycardia were absent, as assessed independently by the three coauthoring thyroidologists. Muscular complaints improved greatly and then disappeared after substitutive levothyroxine treatment. Muscle biopsy revealed nonspecific changes. Nicotinamide adenine dinucleotide reductase (NADH-TR)-hyporeactive cores were present in two patients (10% and 90% of type 1 fibers). On electron microscopy, the core areas showed disorganized myofibrils, Z-band streaming, rod formation, and paucity of mitochondria and glycogen granules. Desmin intermediate filaments were overexpressed only in some cores. The similarity of the pattern of desmin expression between hypothyroid cores and target lesions of denervated fibers supports the hypothesis that, at least in some of our patients, myopathy was the result of an impaired nerve-mediated action of thyroid hormones on skeletal muscle. Our observations suggest that an isolated myopathy as the sole manifestation of hypothyroidism is not a rare event. We postulate that our cases may constitute a peculiar subgroup of Hashimoto's thyroiditis patients: (1) the strikingly abnormal F/M ratio of 1:1; (2) the relatively younger age; (3) the rarity of the goitrous variant; (4) the unusual finding of antithyroglobulin (Tg-Ab) > antithyroid peroxidase (TPO-Ab). Thorough evaluation of thyroid function is appropriate in patients with myopathy of uncertain origin.

Adolescent↗
PubMed1998

The use of ultrasound biomicroscopy in pre-operative evaluation of orbital-blepharal neoformations: report of a case.

In our study we have taken into consideration the use of ultrasound biomicroscopy (UBM) in a case of orbital-blepharal lymphoma. The advantages of this methodology, which is considered a refinement of B scan ultrasonography, compared with other instruments at present available on the market, have been described. We have tried to show how the instrument for biomicroscopic ultrasonography makes it possible to obtain images of the anterior segment of the eye in every detail; it is, therefore, capable of giving us information once only available by means of examining histopathological sections. Apart from the advantages, in this work we have also described the limits of this methodology, which in order to allow an accurate diagnosis must always be accompanied by the traditional ocular echography.

Adult↗
PubMed1998

Biometric pre-operative evaluation of ocular axial length in patients subjected to corneal transplantation.

In cases of keratoconus and consequent penetrating keratoplasty, the refractive requirements of the patient determine the dimensions of the donor button and the receiving wound size. The pre-operative biometric evaluation of the axial parameters may induce the surgeon to choose an oversized button to obtain the right curvature of the cornea and avoid hypermetropia. In this study we present 20 patients transplanted between 1993 and 1995, 13 female, 7 male, aged between 23 and 45 years. These cases demonstrate the utility of this easy and economic technique.

Adult↗
PubMed1998

Echographic follow-up in patients who have undergone sclero-uveotumorectomy.

A-B scan echography provides accurate information on the location, the nature, the extension of a neoplasm and the involvement of neighbouring tissues as well as on the postsurgical evolution. In this study, we intend to give accurate and useful indications to the surgeon concerning conservative surgery and the follow-up after sclero-uveotumorectomy in cases of uveal neoformations. Between January 1988 and June 1996, we examined 46 patients by means of echography before and after sclero-uveotumorectomy.

Decision Making↗
PubMed1998

Evaluation of the echographic contribution to the parasurgical treatment of melanomas of small dimensions.

In this work we underlined the contribution of echography in the parasurgical treatment (photocoagulative) of melanomas of small dimensions. Fourteen patients were examined; some of them were treated with argon laser, others with krypton laser. The echographic examination was performed with the A-B scan technique, naturally accompanied by fluorangiography before and after the operation. An accurate echographic and fluorangiographic follow-up makes it posible to control the evolution of the lesions efficaciously. From this work it is clear how echography gives highly reliable results which allow us, therefore, both to make an adequate therapeutic decision and to evaluate the efficaciousness of the treatment itself.

Adult↗
PubMed1998

Neoplasia-like echographic evidence in retinopathies of several aetiologies: a case report.

In ocular retinal pathology, several aetiological entities showing various clinical and ophthalmoscopic pictures can simulate a tumour. The contribution of echography to the diagnostic research in ophthalmology is really important and the good knowledge of the difficulties and echographic limits is essential. We specifically report a tubercular granuloma clinically and echographically simulating a ciliary-body melanoma.

Ciliary Body↗
PubMed1998

Alterations of the internal reflectivity of extra-ocular muscles associated with several clinical stages of Graves' ophthalmopathy.

In the period between February 1992 and June 1996, the authors performed extra-ocular muscle echobiometry on 163 patients with Graves' disease. The aim of this study is the evaluation of changes occurring in several clinical stages. The authors noted an increase in internal muscular reflectivity in the advanced phases and an irregular structure in the early stages. Controversial results in the literature warrant mastery of the method and further research.

Adult↗
PubMed1998

[Current state of uterine tamponade with Foley catheter in intractable bleeding].

In obstetrics, the uterine tamponade has been used for the control of acute uterine bleeding. However, the control of the acute hemorrhage from the nonpuerperal uterus is more difficult. Four cases are presented with uterine bleeding during dilation and evacuation without response to medical treatment. They were treated with the use of the Foley catheter for 12 to 24 hrs. There were not complications. The uterine tamponade with Foley catheter is a therapeutic option before the radical surgical treatment.

Abortion, Spontaneous↗
PubMed1997

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

Isolated tetralogy of Fallot (TF) has a multifactorial mode of inheritance in most cases, and recurrence risk rates of 2.5-3% have been attributed to first degree relatives of an affected child. In a subgroup of patients with a strong family history, the transmission of a monogenic trait has been suspected. Microdeletion 22q11 (del(22q11)) can cause TF in the setting of DiGeorge and velocardiofacial syndromes, and has also been related to familial conotruncal cardiac defects. Empirical risk figures in families after exclusion of del(22q11) have never been calculated. We have investigated the overall occurrence of congenital heart defect (CHD) in relatives of 102 patients with isolated non-syndromic TF previously screened for del(22q11). Our results show that the frequency of CHD is 3% in sibs, 0.5% in parents, 0.3% in grandparents, 0.2% in uncles or aunts, and 0.6% in first cousins. The recurrence risk rate for sibs in our series is the same as that previously estimated, indicating that after exclusion of patients with del(22q11) genetic counselling to patients with isolated TF should not be modified. A high concordance rate among our affected sibs has been documented. Gene(s) different from those located on chromosome 22q11 must be involved in causing familial aggregation of non-syndromic TF in these cases.

Adolescent↗
PubMed1996

Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred.

Human muscle phosphoglycerate mutase (PGAM-M) deficiency is associated with exercise intolerance, muscle cramps, chronic serum CK elevation, and recurrent episodes of myoglobinuria. Ten patients have been described: 7 African Americans, 1 African, and 2 Caucasians from the Italian kindred described here. Molecular genetic analysis has revealed three different mutations in the PGAM-M gene. The propositus of the Italian family was homozygous for a unique point mutation at codon 90 in exon 1, a C-to-T transition converting an encoded arginine to tryptophan. His sister, who had similar complaints, was also homozygous for this mutation while the paternal grandfather, both parents, a brother and a nephew of the propositus were heterozygous for the mutation. Our studies exclude that PGAM-M deficiency is limited to African Americans, and suggest that the molecular heterogeneity of this rare disorder may be due to a "founder effect" in different ethnic groups.

Adult↗
PubMed1995

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.

Phosphoglycerate mutase (PGAM; EC 2.7.5.3) catalyzes the interconversion of 2-phosphoglycerate and 3-phosphoglycerate in the glycolytic pathway. Hereditary muscle PGAM deficiency has been identified in 9 patients with myopathy. All patients had exercise intolerance and 6 had myoglobinuria. Seven of the 9 patients were African-Americans: 5 of them were homozygous for a nonsense mutation, TGG(Trp) to TAG at codon 78; 1 was a compound heterozygote for the nonsense mutation and a missense mutation, GAG(Glu) to GCG(Ala) at codon 89; and 1 could not be tested. The only 2 Caucasian patients, a brother and sister, were homozygous for a different missense mutation, CGG(Arg) to TGG(Trp) at codon 90. Despite the small number of patients identified, these findings indicate that there is a common mutation in African-Americans while there may be molecular genetic heterogeneity in other ethnic groups.

Adolescent↗