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Biomedical subjects

S Servidei

Publications and source records attributed to S Servidei.

At least 127 records · Page 7Linked to original sources
PubMed1987

Benign reversible muscle cytochrome c oxidase deficiency: a second case.

A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis resolved, and the patient started to improve; assisted ventilation was discontinued at 15 months. Muscle biopsies at 4 and 11 months showed accumulation of mitochondria, lipid, and glycogen; cytochrome c oxidase (COX) activity was 11% of the lowest control in the first biopsy and 57% in the second. Immunocytochemistry and immunotitration showed presence of immunologically reactive enzyme protein in both biopsies. This case confirms a previous report of benign infantile myopathy due to reversible COX deficiency. The severe fibrosis in the second biopsy may explain the slower rate of clinical recovery in this child.

Biopsy↗
PubMed1987

Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy.

Two brothers had nonobstructive hypertrophic cardiomyopathy, mental retardation, and vacuolar myopathy, and their mother died of cardiopathy at age 31. Seven families with this syndrome have been described; heredity appears to be X-linked dominant or autosomal dominant, with different expressivity in males and females. The biochemical cause of this lysosomal storage disease is unknown.

Adolescent↗
PubMed1987

McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote.

A 17-year-old boy had exercise-induced cramps and myoglobinuria. The mother had myalgia and weakness after exercise but the father was asymptomatic. Muscle biopsy was normal in the father but showed glycogen storage and absent or markedly decreased histochemical stain for phosphorylase in mother and son. Autosomal dominant McArdle's disease was considered likely, but biochemical studies showed that muscle phosphorylase activity was 0.6% of normal in the son, 20% in the mother, and 45% in the father, with corresponding decreases of cross-reacting material by immunotitration. These data suggest autosomal recessive transmission. One of the parents was clinically silent and the other was a manifesting heterozygote.

Adolescent↗
PubMed1986

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency.

A 3-day-old girl had a syndrome of lethargy and lactic acidosis. Pregnancy and delivery had been normal; there was no consanguinity or family history of neuromuscular disease. At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 8 1/2 months of cardiac arrest. Results from a muscle biopsy specimen obtained at age 4 1/2 months showed ragged-red fibers and increased glycogen and lipid droplets. With the cytochrome c oxidase reaction, only 5% of the fibers stained positively in the biopsy specimen. Cytochrome c oxidase activity was 7.3% of normal in muscle mitochondria and 12.2% of normal in heart mitochondria. Reduced-minus-oxidized cytochrome spectra showed lack of the cytochrome aa3 peak. Immunotitration using antibodies against purified human heart cytochrome c oxidase showed normal amount of cross-reacting material in both heart and muscle. The genetic error could have involved a cytochrome c oxidase isozyme common to heart and muscle.

Cytochrome-c Oxidase Deficiency↗
PubMed1986

Metabolic myopathies.

Six glycogen storage diseases (resulting from deficiencies of acid maltase, phosphorylase, phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase) and one mitochondrial myopathy (cytochrome c oxidase deficiency) are reviewed to illustrate: clinical heterogeneity, biochemical heterogeneity, evidence for tissue-specific and developmentally controlled isozymes, and molecular genetic studies.

Bisphosphoglycerate Mutase↗
PubMed1986

Fatal infantile form of muscle phosphofructokinase deficiency.

We studied a girl with an infantile syndrome of limb weakness, seizures, cortical blindness, and corneal opacifications; she died at age 7 months of respiratory failure. There was no consanguinity or family history of neuromuscular diseases. Histochemical and biochemical studies of muscle showed mildly increased glycogen content and markedly decreased PFK activity (1.4% of the normal mean). Anaerobic glycolysis in vitro confirmed the metabolic block. Immunofluorescence and immunotitration by ELISA using monoclonal antibodies against subunit M of PFK showed a normal amount of cross-reacting material. The brain showed typical features of neuroaxonal dystrophy. This variant of PFK deficiency may be due to a distinct genetic defect.

Brain Diseases↗
PubMed1984

Clinical study of proximal spinal muscular atrophy. Report on 89 cases.

A report on 89 cases of proximal Spinal Muscular Atrophy with observations on the clinical features, criteria of classification and modes of inheritance. The various forms into which SMA is divided probably represent a single disease that may begin at any age and may vary in severity, due, as a rule, to an autosomal recessive gene.

Adolescent↗
PubMed1981

Clinical features of amyotrophic amyotrophic lateral sclerosis.

The clinical features and course of amyotrophic lateral sclerosis are discussed. The data on a series of 116 patients are compared with those of the literature. The following points emerge: 1) when the disease starts before the age of 50, the prognosis is often less poor than usual; 2) the forms with spinal, and especially cervical, onset appear to be less rapid than bulbar forms; 3) in 20% of the patients survival is over 5 years. There may be some unknown factor that increases the resistance of some subject to the disease.

Adult↗
PubMedDate not supplied

Association of myasthenia gravis and antisynthetase syndrome: a case report.

Myasthenia gravis is a chronic disease of neuromuscular transmission caused by loss of acetylcholine receptors. It can be found in association with other autoimmune disorders. We report the case of a 47-yr-old woman affected by Myasthenia gravis who complained of fever, progressive weakness of proximal limb muscle, arthritis and Raynauds phenomenon and dyspnea. Chest X-rays and CT scan showed an interstitial lung disease; laboratory data indicated an inflammatory picture and increased serum muscle enzymes. Evaluation for infectious, metabolic, iatrogenic and neoplastic aetiologies was unrevealing. The patients clinical condition together with positive results on antisynthetase antibody assay lead to the diagnosis of antisynthetase syndrome. To our knowledge, this is the first report on the association of Myasthenia gravis with antisynthetase syndrome.

Anti-Inflammatory Agents↗
PubMedDate not supplied

Acute myopathy associated with chronic licorice ingestion: reversible loss of myoadenylate deaminase activity.

A patient with acute rhabdomyolysis and absence of myoadenylate deaminase (MADA) associated with chronic licorice intoxication is presented. Clinical and laboratory examination of the patient and morphologic study over skeletal muscle were performed. The major effect of licorice intoxication is hypokalemia, which may explain most of the observed clinical symptoms and morphological changes. The absence of MADA may be a consequence of the direct toxic effect of licorice glycosides. To our knowledge, this is the first report in which a lack of MADA and chronic licorice intoxication has been shown to be associated with clinical, histochemical, biochemical, and morphological changes, which were completely reversed with potassium supplementation and licorice withdrawal.

AMP Deaminase↗
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↗