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Biomedical subjects

L Palmucci

Publications and source records attributed to L Palmucci.

At least 37 records · Page 2Linked to original sources
PubMed1992

Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy.

Two patients with Xp21 muscular dystrophy Becker type showed absence of dystrophin in muscle biopsy tested with 4 antibodies (polyclonal anti-60 kDa, monoclonal against the rod domain, the C-terminus and the N-terminus). DNA analysis did not detect any deletion in one patient and demonstrated deletion of exons 3-7 in the other. The cases represent an exception to the strict correlation between the dystrophin pattern in muscle biopsy and the clinical course of the disease: in fact both the patients are still walking at 14 and 15 years respectively. The possibility of similar cases must be considered not only in the prognosis of Xp21 muscular dystrophy but the more so in the evaluation of therapeutical trials.

Adolescent↗
PubMed1992

Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy.

A 35-year-old man with severe progressive dilating cardiomyopathy and no clinical signs of muscle disease underwent muscular investigations because of markedly increased serum creatine kinase. Muscle biopsy demonstrated Becker type muscular dystrophy with dystrophin of low molecular weight. Genetic analysis showed a deletion spanning from exon 45 to exon 46 in the Xp21 region. Xp21 Becker type muscular dystrophy must be considered in the differential diagnosis of dilating cardiomyopathy.

Adult↗
PubMed1992

Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.

A 25-year-old woman had been complaining of episodes of muscle weakness, nausea and vomiting since the age of 10. Muscle biopsy showed free fatty acid accumulation and mitochondrial abnormalities. Mitochondrial DNA appeared to be normal at Southern analysis. Biochemical investigations demonstrated: glutaric aciduria type II, decreased levels of carnitine in liver and values at the lower level of normal in muscle, increased muscle carnitine palmitoyl transferase activity, partial cytochrome c oxidase and succinate cytochrome reductase deficiency in muscle homogenate. In isolated muscle mitochondria, cytochromes aa3, b and c were partially decreased, butyryl-CoA dehydrogenase and palmitoyl-CoA dehydrogenase activities were 10 and 54% of the normal, respectively. Muscle cell cultures did not show lipid storage. Low-lipid diet reduced critical episodes and lipid storage in muscle biopsy.

Acyl-CoA Dehydrogenases↗
PubMed1991

Myoglobinuria and carnitine palmityl transferase deficiency in father and son.

A 18-year-old man had recurrent myoglobinuria following exercise and fasting. His parents originated from the same village, which has less than 1000 inhabitants. His 53-year-old father suffered from similar episodes, whereas his mother and elder brother were symptom free. Biochemical investigations on muscle and platelets disclosed carnitine palmityl transferase (CPT) deficiency in the patient and his father. His mother and brother showed intermediate CPT values consistent with their being heterozygotes. This appears to be the first report of CPT deficiency with recurrent myoglobinuria in two generations (so-called quasidominant transmission).

Adolescent↗
PubMed1991

Centronuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases.

We reviewed the 288 cases of centronuclear (myotubular) myopathy reported in the literature to correlate the clinical findings with the different modes of inheritance. Autosomal dominant (AD) inheritance occurred in 65 patients in 14 families. Recessive X-linked transmission (XLR) was present in 84 males belonging to 14 families. In 54 familial cases and in 85 isolated cases the mode of inheritance was uncertain. The clinical picture was very severe in the XLR form with most dying in the first year of life, and more heterogeneous and much less severe in the AD form. Clinico-genetic analysis of unclassified familial and isolated cases suggested that most of them fitted in either the AD and the XLR form. The diagnosis of the autosomal recessive mode of inheritance, in the past considered to be the most frequent type, is possible in a minority of cases and is difficult to document.

Adolescent↗
PubMed1991

Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.

Two sisters and a first cousin presented with rigid spine and facio-scapulo-peroneal muscle atrophy. The patients belonged to a family with two first-cousin marriages. Electromyography, muscle and nerve biopsy showed neurogenic muscle atrophy without peripheral nerve involvement. Follow up did not show progression of the disease. This is the first observation of an association of neurogenic facio-scapulo-peroneal and rigid spine syndrome. The double first-cousin marriage suggests autosomal recessive inheritance.

Adolescent↗
PubMed1990

Cytochrome c oxidase and coenzyme Q in neuromuscular diseases: a histochemical study.

Cytochrome c oxidase (CCO) has been histochemically studied in 250 muscle biopsies from patients with different neuromuscular diseases. The results were compared with those obtained on serial sections stained with Gomori's trichrome and with the methods for NADH tetrazolium reductase, succinate dehydrogenase and lactate dehydrogenase. In 58 selected cases serial sections were also stained with a method demonstrating coenzyme Q (CoQ) activity. Demonstration of structural alterations was as good with CCO as with the methods for other oxidative enzymes: particularly evident were alterations of the distribution of mitochondria, such as core areas in central core and multiminicore diseases. Unstained fibers were observed in mitochondrial myopathies, in Becker, Emery-Dreifuss, limb-girdle, facio-scapulo-humeral muscular dystrophies, muscle infarction, polymyositis, motor neuron diseases and neuropathies. The histochemical method for CoQ showed only low specificity, since partial staining was also present in areas devoid of mitochondria, such as cores. CoQ deficiency was not observed in any of the 19 mitochondrial myopathies examined.

Biopsy↗
PubMed1989

Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency.

A 19-year-old man born with thyroprivic hypothyroidism, due to congenital development defect, manifested hypogonadism, stunted growth, chronic progressive external ophthalmoplegia (CPEO), diffuse muscle weakness and wasting, right bundle branch block, cerebral atrophy. Muscle biopsy showed mitochondrial abnormalities. Biochemical investigations on muscle disclosed partial (50%) cytochrome c oxidase deficiency, 58% decrease of cytochrome aa3 and 41% decrease of cytochrome b. Enzyme-linked immunosorbent assay showed decrease of the immunologically active enzyme protein.

Adult↗
PubMed1989

Sporadic distal myopathy with early adult onset: study of muscle biopsies and muscle cell cultures.

A 28-year-old man with negative family history for neuromuscular diseases showed a distal myopathy. Creatine kinase was slightly increased. Two muscle biopsies were performed. The first showed myopathic features, rimmed vacuoles in a limited area and increase of free glycogen; the second showed only nonspecific pathological findings, demonstrating the patchy nature of vacuolar alterations. Biochemical investigation of the glycogenolytic and glycolytic pathways in muscle homogenates ruled out enzyme deficiencies. Muscle cell cultures developed normally.

Adult↗
PubMed1988

Neuropathy secondary to vitamin E deficiency in acquired intestinal malabsorption.

A patient with acquired intestinal malabsorption developed a motor-sensory polyneuropathy with a recurrent remittent course, normal CSF and reduced motor and sensory conduction velocities. Nerve biopsy showed axonal changes. Serum DL-alpha-tocopherol was abnormally low. Six months supplementation with vitamin E was followed by normalization of DL-alpha-tocopherol serum levels and clinical and electrophysiological improvement.

Adult↗
PubMed1987

Chondroitin, chondroitin 6-sulphate, chondroitin 4-sulphate and dermatan sulphate proteoglycans in normal and pathological human muscle.

Chondroitin, chondroitin 6-sulphate, chondroitin 4-sulphate and dermatan sulphate proteoglycans were immunolocalized by monoclonal antibodies applied to human muscle sections digested with chondroitinase. In normal muscle the 4 proteoglycans presented a different extracellular localization: unsulphated chondroitin sulphate (chondroitin) was present in the endomysium and around capillaries, chondroitin 6-sulphate in the basal membrane zone, chondroitin 4-sulphate in the vessel adventitia, in the endomysium around capillaries and, to a lesser degree, in the perimysium, dermatan sulphate in the perimysium and, to a lesser extent, in the vessel adventitia and in the endomysium around capillaries. The enlarged endomysium of pathological muscle contained chondroitin and chondroitin 4-sulphate. Chondroitin 6-sulphate and dermatan sulphate did not seem present in the increased connective tissue. No peculiar pattern was observed in the various neuromuscular diseases studied. The specific extracellular distribution, the different biochemical composition and the different ability to bind to other extracellular components suggest a different biological role of these compounds. Chondroitin 6-sulphate is a component of a highly specialized extracellular structure, namely basal membrane. Chondroitin and chondroitin 4-sulphate participate in the composition of actively changing extracellular matrix such as the endomysium in pathological muscle. On the other hand, dermatan sulphate is a constituent of the perimysium that is a more static extracellular structure.

Antibodies, Monoclonal↗
PubMed1986

Quantitative analysis of quadriceps muscle biopsy. Results in 7 definite and 45 possible carriers of Duchenne muscular dystrophy.

Quadriceps muscle biopsy was performed in 7 definite and 45 possible carriers of Duchenne muscular dystrophy. Unequivocal morphological changes were observed in 8 women; all but one of them were already detected as carriers by increased serum CK. Histometric analysis of muscle biopsy was performed on two fibre types (type 1 and type 2) in all 52 women; in 38 of them the two subgroups of type 2 fibres (type 2a and type 2b) were also quantified. Results of histometric analysis were matched with control values obtained from 30 healthy females in the same age as the carriers (20-50 yr). Histometric analysis on two fibre types detected a percentage of carriers (27%) much lower than that detected by serum CK determination (44%). The detection rate of combined serum CK determination and histometric analysis of muscle biopsy was: 100% in definite carriers, 65% in mothers possible carriers, 38% in sisters and 25% in the group of cousins and aunts. The histometric parameters most frequently altered were atrophy factor and variability coefficient of mean diameter. Histometric analysis carried out on three fibre types in 38 women detected 2 more carriers showing atrophy of type 2b fibres. The results indicate that quantitative analysis of muscle biopsy may be used to detect some possible carriers with normal serum CK. However, an adequate number of controls is mandatory; in fact the detection rate of histometric analysis of muscle biopsy decreased by increasing the number of controls, resulting much lower than previously reported.

Adult↗
PubMed1986

Immunohistochemical localization of chondroitin sulfate in normal and pathological human muscle.

The immunohistological localization of chondroitin sulfate (CS) has been studied in normal and pathological human muscle. The bovine nasal cartilage proteoglycan digested with chondroitinase ABC (BNC-PG-Ch ABC) has been utilized for the production of a rabbit polyclonal antiserum. In vitro studies showed that the antiserum binds to the unsaturated disaccharide that remains attached to the core protein after digestion of the CS chains with chondroitinase ABC (Ch ABC). As the disaccharide is created specifically by Ch ABC digestion of the CS chains, the antiserum allows the immunolocalization of CS on tissue sections digested with Ch ABC. The immunohistochemical study on normal and pathological muscle demonstrated a localization of CS in all the extracellular structures: endomysium, perimysium, muscle spindle capsule and intrafusal space. In pathological conditions, the CS was raised in all the cases with increased connective tissue, showing a pattern comparable to that obtained with fibronectin and collagen III. None of the pathological conditions displayed any peculiar character of CS distribution. This finding does not support a primary role for CS in the pathogenesis of muscular dystrophy.

Antibody Specificity↗
PubMed1985

Myopathy with tubular aggregates in a patient adrenalectomized for Cushing's syndrome.

We report a patient with attacks of muscle weakness and mild myopathy with tubular aggregates, following bilateral adrenalectomy for adrenal Cushing's syndrome and replacement therapy with cortisone acetate and 9 alpha-fluorohydrocortisone. The replacement of 9 alpha-fluorohydrocortisone therapy by desoxycorticosterone acetate therapy led to the cessation of the attacks.

Adrenalectomy↗
PubMed1985

Familial progressive external ophthalmoplegia with multisystem abnormalities: "new" features raising nosological problems.

A 32-year-old female presented with progressive external ophthalmoplegia (PEO) and multisystem abnormalities, strikingly associated with myotonia and muscle hypertrophy. These two features were not found in her brother, who had a complex neuromuscular disorder complicating chronic PEO. In both subjects muscle biopsy revealed "ragged-red" fibres and myofibres containing glycogen granules, which were never bound by membranes. A severe demyelinating neuropathy was revealed by electrophysiological and morphological studies. Cranial CT scan showed extensive demyelination of the cerebral white matter. Genetic studies demonstrated that this familial syndrome is transmitted as an autosomal recessive trait.

Adult↗