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C Doriguzzi

Publications and source records attributed to C Doriguzzi.

53 records · Page 3Linked to original sources
PubMed1983

A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing.

A new method for Ca++-ATPase reaction in human muscle fibres is presented as an alternative to previous ATPase stains. The method is based on the use of metachromatic dyes, namely Azure A and Toluidine Blue, and has the advantages of speed, ease of performance and production of an elegant and clearcut fibre typing. The method distinguishes fibre types because of their metachromatic or orthochromatic staining, due to their different content of phosphate after incubation in the reaction medium. The comparison of serial sections stained by cationic dyes and by ammonium sulphide revealed close correspondence of fibre typing. Fibre type differentiation was also obtained with Acridine Orange; however this method was less reproducible.

Acridine Orange↗
PubMed1983

Interictal conduction slowing in muscle fibers in hypokalemic periodic paralysis.

Conduction velocity in muscle fibers of the short head of biceps brachii was reduced between attacks in all the affected members of a family suffering from hypokalemic periodic paralysis. This finding represents a further evidence of a primary alteration of sarcolemmal function in this disease. Interictal conduction slowing in muscle fibers is consistent with the prevailing pathophysiologic hypothesis, which considers an increased membrane permeability to sodium ions as the fundamental defect underlying all forms of familial periodic paralysis.

Female↗
PubMed1981

Myoglobinuria: presentation of personal cases and review of the literature.

The presence of myoglobin in the urine is a symptom of rhabdomyolysis occurring in many muscular affections. Muscle tissue from seven patients who had presented one of more episodes of myoglobinuria has been studied by histological, histochemical, and biochemical methods. Three cases belonging to the same family and an additional one revealed a muscular CPT deficiency. Two of those cases were females. In two other cases a toxic etiology was suggested, one due to heroin and the other to associated fenfluramine and phenformin. In the last case the origin of rhabdomyolysis was not clearly defined and viral infection, drug intolerance or electrolytic imbalance were proposed. The cases are discussed in the light of the literature and the possible etiopathogenetic mechanisms are reviewed.

Adolescent↗
PubMed1981

Epidemiology of Duchenne muscular dystrophy in the province of Turin.

An epidemiological investigation on Duchenne muscular dystrophy in Turin and its province has been carried out for the period 1955-974. The incidence of the disease proved to be 24 X 10(-5), and the prevalence 2.15 X 10(-5). The mutation rate was 80 X 10(-6). The data are compared with the literature. Segregation analysis on many families was performed in order to find the theoretical number of carrier among Duchenne mothers. The importance of epidemiology for genetic counselling is stressed.

Child↗
PubMed1980

Motor neuron disease following poliomyelitis. Bioptic study of five cases.

5 cases of late motor neuron degeneration following poliomyelitis are presented. CPK, CSF, EMG and spine radiology were studied. In all cases, muscle biopsy evidenced neurogenic alterations both in previously affected limbs and in newly affected ones. Mitochondrial abnormalities were found in 1 case. The findings are discussed in the light of the literature with particular regard to the pathogenesis of the disease. The case with abnormal mitochondria is stressed for the possible relationship of this pathology with systemic degenerative diseases.

Adult↗
PubMedDate not supplied

Laminin and fibronectin distribution in normal and pathological human muscle.

The availability of antisera against collagen and non-collagen proteins of the extracellular matrix has opened new possibilities of studying fibrous infiltration in muscular diseases. We have examined muscle biopsies from 5 controls and 27 patients with various neuromuscular diseases by immunofluorescence and peroxidase-anti-peroxidase. We investigated the distribution of fibronectin and of laminin, a protein present in basement membranes. In normal muscle both were present around blood vessels, axons, muscle spindles and muscle fibres. In addition fibronectin filled the endomysial and perimysial space, the endoneurium and the space between the intrafusal fibres. In pathological muscle laminin distribution was similar to that in normal muscle, but some atrophic fibres appeared to have a thickened contour and irregular profiles were occasionally observed in the absence of histologically demonstrable muscle fibres. Fibronectin was increased in all the conditions with thickened endomysium and perimysium, without displaying any disease-specific character. Findings are compared with the few published observations on fibronectin and collagen types.

Connective Tissue↗
PubMedDate not supplied

Quantitative analysis of quadriceps muscle biopsy. Results in 30 healthy females.

Open biopsy was performed in right quadriceps muscle (vastus lateralis) in 30 healthy female volunteers between 20 and 50 years of age. Histometric analysis was carried out on ATPase stained sections preincubated at pH 4.5. Type 1, 2a, 2b, and 2 fibres were quantified taking into account the following parameters: percentage of fibre types, mean diameter, atrophy and hypertrophy factor, variability coefficient of mean diameter and mean diameter ratio of type 1: type 2 fibres. Results showed that there is a large variation in fibre type percentage, mean diameter and hypertrophy factor, and consequently ranges of normal values are wider than those previously reported. Atrophy factor and variability coefficient are the least variable parameters. The importance of normal controls is stressed to avoid false positives in histometric evaluation of muscle biopsy with minimal changes.

Adult↗
PubMedDate not supplied

Late onset and very mild course of Xp21 Becker type muscular dystrophy.

We report a case of late onset of Becker's muscular dystrophy (BMD), diagnosed at the age of 60, which showed a very mild clinical course. Remarkably, the immunohistochemical pattern did not show significant alterations, while Western blotting disclosed low molecular weight dystrophin. DNA analysis showed a deletion of the exons 45-53 of the Xp21 gene, which is fairly typical of Becker's muscular dystrophy but not predictable of clinical course. The possibility of Xp21 muscular dystrophy must be considered in all myopathies of uncertain cause, also in elderly patients.

Blotting, Western↗
PubMedDate not supplied

MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.

Four members of a family were found to carry the A3243G mtDNA mutation. Clinical features varied from typical MELAS to myoclonic epilepsy to simple deafness without neurological signs. Several other members of the family had symptoms consistent with a mitochondrial disease. Muscle biopsy in 3 of the 4 patients showed the most prominent mitochondrial alterations with partial deficiency of cytochrome c oxidase in the case with the mildest phenotype. Mitochondrial DNA analysis detected a variable percentage of A3243G mutation, roughly correlating with the phenotype. The interesting feature of the family lies in the great intrafamilial variability of the severity of clinical expression, encompassing MELAS and MERRF features, associated with the A3243G mtDNA mutation. A search for the most common mtDNA mutations is recommended in all patients featuring incomplete MELAS or MERRF syndromes and in all familial cases presenting minimal clinical signs.

Adult↗
PubMedDate not supplied

Tubular aggregates in a case of osteomalacic myopathy due to anticonvulsant drugs.

We describe a case of severe osteomalacia and secondary myopathy due to anticonvulsant drugs--barbiturates and phenytoin. The clinical course of the patient, a 29-year-old epileptic woman subject to anorexia, demonstrates the importance of alimentary intake in the pathogenesis of the disease. Muscle biopsy performed before and after treatment showed the efficacy of therapy with 25-hydroxy cholecalciferol. However, in both biopsies tubular aggregates were found: this unusual ultrastructural finding probably indicates the direct action of the anticonvulsant drugs on the sarcoplasmic reticulum membranes. This is the second case of osteomalacic myopathy due to anticonvulsants confirmed by histologic and ultrastructural examinations; it is also the first report of tubular aggregates in this muscular disease.

Adult↗
PubMedDate not supplied

Osteomalacic myopathy in a case of diffuse nodular lipomatosis of the small bowel.

The case of a 57-year-old woman is described with a two months history of proximal muscle weakness and pain, marked hypotrophy and brisk reflexes. Clinical investigation demonstrated normal serum CK, myopathic EMG and osteomalacia. Muscle biopsy showed type II fibre atrophy and mitochondrial alterations without inclusions. Further examinations including a jejunal biopsy revealed malabsorption accounting for osteomalacia. At autopsy diffuse nodular lipomatosis of the small bowel was detected (Acta neurol. belg., 1982, 82, 65-71).

Female↗
PubMedDate not supplied

Adult onset nemaline myopathy: a distinct nosologic entity?

A 61-year-old woman presented progressive distal weakness and wasting of her upper limbs spreading to the shoulder girdle and to the neck muscles. Creatine kinase, cerebrospinal fluid, spinal X-ray and spinal nuclear magnetic resonance were normal. Electromyography showed myopathic alterations. Muscle biopsy showed abundant rods in many fibres. Prednisone 75 mg/die for two months did not modify the symptoms.

Female↗