Biomedical subjects

V Sansone

Publications and source records attributed to V Sansone.

At least 37 records · Page 2Linked to original sources

PubMed1999

Combined sciatic and femoral nerve block for knee arthroscopy: 4 years' experience.

Selective block of the femoral and sciatic nerves was performed on 601 patients undergoing knee arthroscopy. The results were good in 87%, adequate in 12%, and poor in 1%. The whole knee surface was covered by the nerve blockade. The duration of anesthesia was 152 +/- 21 min and that of analgesia, was 336 +/- 18 min. No correlation was observed between the effectiveness of the anesthesia and type of surgery performed. The technique described thus proved adequate for knee arthroscopic surgery, reproducibility was excellent, costs and hospital stays were reduced with respect to general anesthesia, and surgeon and patient satisfaction was high.

Adolescent↗

PubMed1999

Arthroscopic treatment of popliteal cyst and associated intra-articular knee disorders in adults.

We describe a surgical arthroscopic treatment for popliteal cyst in a series of 30 patients, with a mean follow-up of 32 months. The treatment consists of a cure for the intra-articular pathology of the knee associated with popliteal cysts, and the contemporaneous correction of the valvular mechanism responsible for the formation and reoccurrence of popliteal cyst. The popliteal cyst in adults was found to be almost invariably associated with other knee disorders. In all of the cases studied, a connection between joint space and cyst was found. Arthroscopy allowed the treatment of almost all of the associated knee disorders and the removal of anatomic structures imposing the one-way passage of fluid from the joint space into the cyst. Two years after the treatment, we observed optimal or good clinical results in 95% of the patients treated.

Adult↗

PubMed1997

Andersen's syndrome: a distinct periodic paralysis.

A previous study of 4 patients defined Andersen's syndrome (AS) as a triad of potassium-sensitive periodic paralysis, ventricular dysrhythmias, and dysmorphic features. AS appears to be distinct in terms of its genetic defect from the alpha-subunit of skeletal muscle sodium channel and the cardiac potassium channel responsible for most long QT syndromes (LQT1). We studied 11 additional patients with AS from 5 kindreds. Spontaneous attacks of paralysis were associated with hypokalemia, normokalemia, or hyperkalemia. All 11 patients had similar dysmorphic features. The QT interval was prolonged in all patients although only 4 were symptomatic. Genetic linkage studies excluded linkage to the alpha-subunit of the skeletal muscle sodium channel and to four distinct LQT loci. In addition, none of the common dihydropyridine receptor mutations responsible for hypokalemic periodic paralysis were present. We conclude that (1) AS is a genetically unique channelopathy affecting both cardiac and skeletal membrane excitability, (2) attacks of paralysis may be either hypokalemic or hyperkalemic, (3) a prolonged QT interval is an integral feature of this syndrome, and (4) a prolonged QT interval may be the only sign in an individual from an otherwise typical AS kindred. This may be confused with more common, potentially lethal LQT syndromes.

Adolescent↗

PubMed1997

Oculopharyngeal muscular dystrophy in Italy.

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathy particularly frequent in Québec. The few Italian cases thus far described with bilateral ptosis, dysphagia and variable muscle weakness, show non-specific dystrophic findings on muscle biopsies by light microscopy. We describe a 70-year-old Italian woman with an adult-onset ptosis, mild dysphagia and proximal muscle weakness belonging to a family segregating OPMD according to an autosomal dominant mode of inheritance. Clinical features of four of her relatives are reviewed. Muscle biopsy studied by electron microscopy showed the typical 8.5 nm in diameter intranuclear filamentous inclusions (INI). To our knowledge, this is the first Italian report of OPMD with INI. The identification of nuclear inclusions is mandatory in order to confirm the diagnosis prior to linkage analysis.

Aged↗

PubMed1997

Use of gold weights to correct lagophthalmos in neuromuscular disease.

Upper eyelid gold-weight implants are widely used in the correction of lagophthalmos in many neuromuscular conditions, most commonly facial palsy. The paralytic lagophthalmos that occurs in facioscapulohumeral muscular dystrophy (FSHD) is common and can cause severe ocular complications. It is not usually considered for surgical correction. Upper lid loading with 24K gold implants and reconstructive lower lid surgery in a 64-year-old woman with FSHD corrected eyelid deformity and exposure keratitis. Surgical treatment also markedly improved facial appearance. This treatment may merit wider use in FSHD.

Eyelid Diseases↗

PubMed1996

Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy.

We describe clinical, pathological, and muscle imaging findings in a patient with an early adult-onset progressive muscular weakness in association with atrophy beginning in the legs and involving both gastrocnemi in particular. Muscle biopsy findings showed a severe dystrophic process with no vacuoles, consistent with Miyoshi's myopathy. Computerized tomography and magnetic resonance imaging scans were used to provide an ongoing permanent record of the various stages of the disease.

Adult↗

PubMed1996

A newly-described myotonic disorder (proximal myotonic myopathy--PROMM): personal experience and review of the literature.

The aim of this study is to describe the essential characteristics of a family affected by the newly-described proximal myotonic myopathy (PROMM) The clinical, laboratory and genetic findings are described and compared with those reported in the literature, and the clinical spectrum of the manifestations that are similar to but distinct from myotonic dystrophy (MD) is also explored. This has practical implications because the cases so far described suggest that the long-term prognosis with PROMM seems to be more favourable than that of patients with MD.

Adult↗

PubMed1996

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.

Myotonic dystrophy (DM) is a well-defined autosomal dominant disorder characterized by myotonia, muscle weakness, cardiac conduction defects, cataracts, and endocrine abnormalities. Recently a newly recognized disorder, similar to but distinct from DM, has been observed with multisystem findings including intermittent myotonia, proximal myopathy, and occasional cardiac conduction disturbances. This disorder has been called proximal myotonic myopathy (PROMM). No history of anticipation is present and there is no linkage to the gene locus for DM or to the loci for the muscle sodium or chloride channels. This report describes a family with a normal size of the CTG trinucleotide repeat expansion of the DM gene in which affected individuals have myotonia (intermittent, exacerbated by cold), bilateral cataracts, mild hypogonadism and mild temporal atrophy. Affected individuals also have proximal muscle weakness, facial involvement, nonspecific abnormalities on muscle biopsy, normal cardiac conduction, and no glucose intolerance. The absence of trinucleotide repeat expansion in the DM gene is consistent with this family being affected by a disorder distinct from DM, possibly a form of PROMM.

Adult↗

PubMed1995

Popliteal cysts and associated disorders of the knee. Critical review with MR imaging.

We have studied retrospectively the epidemiological features of popliteal cysts in adults and the incidence of associated intra-articular disorders in a series of 1001 patients undergoing magnetic resonance imaging who had been randomly referred to our institution. Images of popliteal cysts were seen in 4.7% of this group which is lower than in other studies with different imaging techniques. A communication with the joint was invariably found. The cysts were associated with one, or more, disorders detected by MRI in 94%. The commonest lesions were meniscal (83%), frequently involving the posterior horn of the medial meniscus, chondral (43%), and anterior cruciate ligament tears. Our data suggest that intra-articular disorders may play an important role in the pathogenesis of popliteal cysts in adults.

Adolescent↗

PubMed1994

Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.

The periodic paralyses are a group of autosomal dominant muscle diseases sharing the common feature of episodic stiffness and weakness, usually occurring with muscle cooling (as in the case of paramyotonia congenita, PC phenotype) or changes in extracellular K+ levels resulting from various precipitating factors (hyperkalemic periodic paralysis, HYPP and hypokalemic periodic paralysis, HypoPP). It is now known that HYPP maps to chromosome 17q, and that PC and a form of myotonia congenita without periodic paralysis also map to the 17q locus, thus indicating that they derive from allelic variants. So far, these disorders have been described in various ethnic groups but, to our knowledge, have never been reported in Italy. We describe a mutation in an S4 segment of the adult skeletal muscle sodium channel in a clinically-defined Italian family that leads to the paramyotonia congenita (PC) phenotype with dominant autosomal inheritance and temperature-related symptoms (regional weakness following cooling and exercise), present since childhood in all of the affected family members.

Adult↗

PubMed1994

Enzymatic activity and morphological differentiation in de novo innervated human muscle cultures.

In the present series of experiments, we studied the effects of developmental neural control on morphological differentiation and on the activity of muscle-specific (creatine kinase, CK; phosphoglycerate mutase, PGAM; phosphorylase, PPL; and phosphofructokinase, PFK) and non-specific (acid maltase, AM; glucose-6-phosphate dehydrogenase, G6PD), human muscle enzymes in de novo innervated muscle cultures. Following innervation of muscle cultures, we noted an increase in the activity of CK, PPL, PFK and AM along with a reduction in G6PD activity. There was also a change of the CK isoenzymes present in the myotubes, i.e. BB and MB are the major isoenzymes in non innervated cultures, but MM becomes predominant following innervation. In the case of PGAM, the only isoenzyme present in the non innervated cultures was BB while the MM isoform appeared only after a prolonged innervation period in most cases--with the exception of AM--these changes in enzyme activity and in the type of isoenzymes present, demonstrate that innervated cultures are more similar to mature muscle. This maturation of enzymatic activity correlates well with the morphological maturation of the myotubes observed following innervation. Such innervated cultures therefore represent a better model with which to study the morphological and biochemical abnormalities associated with neuromuscular diseases.

Creatine Kinase↗

PubMed1994

[Sacroiliitis in seronegative arthritis. The anatomicopathological aspects and imaging methods compared].

Sacroiliitis is usually the first and main feature of seronegative spondyloarthropathies. In its early stages it is difficult for diagnostic imaging techniques to demonstrate it and specificity is poor. At the same time, there may be few or even no symptoms at all. Therefore, the anatomical damage is quite often diagnosed at an advanced and irreversible stage. This study was aimed at assessing sacroiliac joint impairment during seronegative arthritis by means of diagnostic imaging techniques. The abnormal features of this condition are reported, pointing out the different findings of ankylosing spondylitis, psoriatic arthritis, Reiter's disease, reactive arthritis and sacroiliitis associated with chronic enteritis--e.g., Crohn's disease, ulcerative colitis, etc. Then, the capabilities and the features of each imaging method (conventional radiology, CT, bone scan, MRI) are reported. Modern techniques are dealt with in depth, especially relative to their capabilities in solving radiographic dilemmas. Technological progress is currently focused on MRI, whose use in early inflammatory sacroiliitis during seronegative spondyloarthropathies remains however in the experimental stage. Therefore, plain radiography is still the method of choice and its findings are used as a diagnostic criterion in unquestionable cases. To conclude, if the peculiar morphologic features of this condition are known and supported by clinical and radiographic findings, the condition can be diagnosed early, which means proper treatment and a lower incidence of highly invalidating sequelae.

Arthritis↗

PubMed1994

[Sciatic and femoral nerve block with electro-neural stimulator (ENS) in surgery of the knee in day-care surgery].

This study was designed to evaluate locoregional anesthesia (double block of sciatic and femoral nerves with ENS) for ambulatory knee arthroscopic surgery. A statistical evaluation was performed in 50 adult outpatients (41 males, 9 females, ASA class 1 or 2) undergoing ambulatory knee arthroscopic procedures. Basal and intraoperative BP, HR SaO2 were recorded and the intensity of analgesia was also assessed according to the patient's subjective evaluation. Extra sedative or analgesic requirements were also recorded. There were no statistical changes in hemodynamic parameters during the perioperative period. The effectiveness of the anaesthetic block was classified as very good in 84% of patients, good in 2%, sufficient in 6% and inadequate in 8%. All patients were discharged in four hours after surgery. Our study shows that in ambulatory arthroscopic surgery, sciatic and femoral block with ENS is a valuable alternative to general anaesthesia.

Adolescent↗

PubMed1993

Muscle glucose-6-phosphate dehydrogenase deficiency: restoration of enzymatic activity in hybrid myotubes.

A high level of glucose-6-phosphate dehydrogenase (G6PD) activity was observed in myoblasts and myotubes from normal human and mouse cell cultures. However, only a residual amount of activity was observed in myoblasts and myotubes obtained from G6PD-deficient patients (G6PD Mediterranean). Hybrids were formed by the fusion of normal (from human and mouse) and G6PD-deficient myoblasts (from the patients). These hybrids contained a high level of G6PD activity. Hoechst staining permitted to confirm that the enzymatic activity was not restrained to a domain near the competent nuclei. These results suggest that myoblast transplantation could be used to restore normal enzymatic activity in metabolic myopathies.

Adult↗

PubMed1993

Stable hybrid myotubes: a new model for studying re-expression of enzymatic activities in vitro.

Heterokaryons represent a stable and reproducible model system for the study of biochemical and molecular aspects responsible for muscle gene activation. Previous experiments have used this fusion system to demonstrate human gene activation in hybrids formed between human and non-human cells. The aim of this research was to apply this experimental model to the correction of a cytoplasmic activity, namely glucose-6-phosphate dehydrogenase (G6PD), in vitro, in hybrid myotubes formed between G6PD-negative and positive myoblasts. Different identification methods were used (Hoechst stain and Fluorescent Latex Microspheres, FLMs) to identify hybrid myotubes formed. We demonstrated the restoration of G6PD activity in all hybrid myotubes formed; we then tried to elucidate the mechanisms underlying the restoration of this specific activity and apply the results obtained to the understanding of more complex mechanisms involved in muscle gene activation.

Animals↗

PubMed1993

Cytoplasmic restoration and persistence of glucose-6-phosphate dehydrogenase activity in stable hybrid myotubes.

In previous experiments, we obtained an in vitro restoration of a cytosolic enzyme glucose-6-phosphate dehydrogenase (G6PD) in hybrid myotubes formed between G6PD-deficient and human or murine myoblasts. In the present series of experiments, the degree of restoration was observed and the persistence of the restored activity was evaluated in the hybrids formed. Quantitative measurements of enzymatic activity in single human-human or human-mouse myotubes, identified by using either fluorescent latex microspheres or Hoechst stain 33258, were made by using a computer-controlled Leitz photometer. Histospectrophotometry and statistical analysis showed a 50% restoration of enzymatic activity in human-human hybrids compared to deficient and normal myotubes. The restored activity was uniformly distributed throughout the cytoplasm and persisted in long-term cultures. No nuclear domain was observed for G6PD. Knowledge of the degree of restoration, of the extent of distribution of the products of "competent" nuclei and the demonstration that the correction is not a transitory event in vitro, supports the potential usefulness of myoblast transfer therapy for this type of myopathy.

Animals↗

PubMed1993

Surgical treatment of pubic pain refractory to conservative treatment.

After some considerations on the biomechanical nature of pubic pain, the authors present a series of 17 leading athletes (14 professional football players, 1 marathon runner, 1 weight-lifter and 1 French boxer), complaining of this disorder for at least one year and refractory to conservative treatment, surgically treated with the Nesovic technique and evaluated after an average follow-up period of two years (18-30 months).

Adult↗

PubMed1992

Effects of acetyl-L-carnitine on the survival of adult rat sensory neurons in primary cultures.

Acetyl-L-carnitine produces a significant increase in the survival time-course of adult rat sensory neurons maintained in primary cultures up to 40 days. The analysis of our data suggests that 200 microM acetyl-L-carnitine added to the medium, slows down neuronal decay especially in the first 10 days in vitro, sparing a fraction of cells which would otherwise be lost. Patch-clamp recordings from these neurons show that superfusion with acetyl-L-carnitine (100-1000 microM) does not induce any membrane current. In addition an agonist muscarinic effect particularly concerning high-voltage activated calcium channel modulation appears to be ruled out. In conclusion our data favour the role of acetyl-L-carnitine in the trophism of sensory neurons in adult rats. In agreement with other in vivo experiments our data reinforce the hypothesis that this substance might be involved in reducing neuronal loss observed in nervous system aging.

Acetylcarnitine↗