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Biomedical subjects

C Angelini

Publications and source records attributed to C Angelini.

14 recordsLinked to original sources
PubMed1979

Assessment of the value of thymic scan in myasthenia gravis.

Fifty-three patients were investigated by Se methionine scan in order to evaluate the role of the thymus gland in myasthenia gravis. The thymus of 28 of the above patients was examined histologically. Five out of six thymomas were detected with this technique and eight out of twelve hyperplasias were revealed. The above data suggests that Se methionine scan is a useful, innocuous tool for diagnosing neoplasms and abnormal germinal centers in thymus glands.

Adolescent↗
PubMed1978

Carnitine deficiency: acute postpartum crisis.

A 16-year-old girl, previously in good health, developed progressive generalized muscle weakness following her first parturition. The neck and proximal limb muscles were especially weak and painful. Carnitine (4-trimethylamino-3-hydroxybutyrate) was markedly decreased in muscle, plasma, and urine. Dietary carnitine supplementation, 2.0 gm daily, was followed by clinical improvement and decreased lipid droplets in muscle biopsy. Together with previously reported cases, 2 fatal, the patient's illness emphasizes the risk of pregnancy in women with carnitine deficiency.

Adolescent↗
PubMed1977

Duchenne muscular dystrophy. A population study.

By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of population. Prevalence rate was found to be 34x10(-6), incidence rate about 28x10(-5), while mutation rate was found lower than 50x10(-6) by the direct method. The discrepancy between the results obtained by the Haldane formula and those obtained by the direct method for the estimate of the mutation rate is discussed.

Female↗
PubMed1976

Lipid storage myopathies. A review of metabolic defect and of treatment.

Various cases of lipid storage myopathies have been described. The biochemical defect could be determined in only some of these cases. The syndromes identified to date are as follows: carnitine deficiency (type I lipid storage myopathy), carnitine-palmityltransferase (CPT) deficiency and pyruvate-decarboxylase deficiency. In the last two diseases the vacuolization in muscle is not marked. The case of a 10 year old carnitine deficient patient with a history of insidious muscle weakness in the proximal limb and neck muscles is presented. The patient was treated with oral carnitine and a medium chain triglyceride diet for 18 months and her clinical status has remained improved. In other lipid storage patients prednisone treatment resulted in improvement. In cases of suspected lipid storage myopathy the following studies are indicated: 1) examination of ketone bodies in serum and urine during fasting, long chain and medium chain triglyceride diets; 2) serum triglyceride and serum carnitine; 3) study on fresh muscle and fibroblasts with labeled substrates, biochemical determination of carnitine and CPT in muscle.

Adult↗
PubMed1976

[Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract].

A syndrome characterized by benig muscular dystrophy, hypergonadotropic hypogonadism, congenital cataract and normal karyotype is reported. A similar condition was described by Bassöe. The patient's family tree revealed a number of isolated cases presenting some component of the syndrome, suggesting that this is connected with a recessive autosomic gene, probably with pleiotropic effect. The muscular disorder was absent in most of the other family members and its clinical signs were probably favoured by the low plasma level of testosterone with consequent reduced myotrophic action. The simultaneous presence of congenital cataract links the syndrome on the one hand to Steinert's myotonic dystrophy, although there were no clinical or electromyographic signs of myotonia, and on the other to other hereditary or familial neuroectodermal syndromes, compared to which it presents specific differential traits.

Adult↗
PubMed1976

Carnitine deficiency of skeletal muscle: report of a treated case.

We studied a 10-year-old girl with an insidious muscle disease beginning at age 7. Muscle biopsy showed that the majority of type I fibers were vacuolated and contained lipid excess. Carnitine deficiency was found in skeletal muscle. The patient was treated with 3.0 gm L-carnitine per day and with a medium-chain triglyceride diet. She showed a rapid improvement and recovery of strength. A muscle biopsy 8 months later showed a decreased lipid content. Oral carnitine replacement represents an effective treatment for the disease.

Carnitine↗
PubMedDate not supplied

Progressive supranuclear palsy: report of two cases (author's transl).

Two cases of progressive supranuclear palsy (PSP) are reported in two men (49 and 75years old) who for one and four years respectively had sudden falling while walking. Rigidity of the neck was an carly feature that prgressed to involve the upper trunk while "subcortical dementia", dysarthria and dysphagia appeared. They had a complete paralysis of vertical eye movements and slow horizontal voluntary eye movements. Oculocephalic reflexes were intact. On caloric stimulation vestibulo-ocular responses were present but only slow saccadic eye movements were observed. With surface electrodes eye movements were studied during the REM phase of sleep. Our patients had both vertical and horizontal eye movements during paradoxal sleep. This findings is in keeping with a supranuclear ophtalmoplegia, and may help in antemorten diagnosis of PSP.

Aged↗
PubMedDate not supplied

[Thymus gland scan in myasthenia gravis: experience in 52 patients].

A firm relationship has been established between thymus gland pathology and myasthenia gravis. The most frequent changes observed in this gland consist in simple hyperplasia of germinal centers or thymoma. In order to detect these alterations it is necessary to have a suitable reliable technique, beside routine radiological exams: thymus scan has been proposed as an useful tool. Since 1968 we submitted 52 patients to this procedure; we used as a tracer 75Se-Seleniomethionine in most cases, 57Co-bleomycin and 67Ga-citrate in a few cases. The scan was found positive in 22 cases (42%) showing either localized or diffuse uptake in the region of the sternum. Thymus changes were subsequently examined in 26 cases: 22 cases after thymectomy in 4 cases at autopsy. We found a good correlation between positive scan and pathological changes of the gland such as thymoma or germinal center hyperplasia. However in 4 patients with negative scan that previously received radiation therapy or immunosuppressive therapy such pathology was missed: 3 cases of hyperplasia and 1 residual thymoma. We conclude that thymic scan an useful and highly specific diagnostic procedure and should be done before any kind of treatment which affects thymus.

Adolescent↗
PubMedDate not supplied

[Aminoacid levels in Werding-Hoffmann and Kugelberg-Welander diseases (author's transl)].

The concentration of free aminoacids in plasma and urine were estimated in 10 patients suffering from Werdnig-Hoffmann's disease of long duration. The age of the patients was between 5 and 14 years. Estimations were also made in 10 patients with Kugelberg-Welander's disease aged between 11 and 34 years. The aminoacid concentrations were estimated on samples of plasma and 24 hours samples of urine by means of chromatography on ion-exchange resins. The data obtained were compared respectively with groups of thirty and ten healthy subjects of the same age. In the group of patients with Werdnig-Hoffmann's disease a significant increase of taurine (p less than 0.001) and of glutamic acid (p less than 0.001) was found in the plasma. The urinary excretion of glutamine was increased in the same group of patients (p less than 0.001) and in the group with Kugelberg-Welander's disease (p less than 0.005). These aminoacid levels are interpreted as an expression of a reduced oxygen metabolism and increased proteolysis in the skeletal muscles in conditions of chronic denervation.

Adolescent↗