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Biomedical subjects

J M Mussini

Publications and source records attributed to J M Mussini.

At least 37 records · Page 2Linked to original sources
PubMed1991

[Vascular manifestation of thoracic outlet syndrome. Prospective study of 104 patients].

On the basis of a prospective study of 104 patients, the authors discuss the diagnostic value of the clinical symptoms revealing the thoracic outlet syndrome (TOS), as well as the specificity of the vascular functional exploration carried out to establish the diagnosis. Non-systematized pain and dysesthesia in the upper limb, with a postural or nocturnal onset, and Raynaud's sign are the most frequently observed signs. The "candlestick" maneuver still is the most reliable clinical triggering maneuver. The clinical features and the vascular functional explorations (capillaroscopy and digital plethysmography) allow demonstrating the existence of a true Raynaud's syndrome secondary to the TOS. The results of the arterial Doppler study distinguish the symptomatic and asymptomatic sides in the same patient, though without any correlation with the symptoms observed. The Doppler examination therefore seems to be reliable to demonstrate an anatomical duct, but remains insufficient to establish a causal relationship with the signal symptoms in most cases.

Adolescent↗
PubMed1990

Adult sphingomyelinase deficiency: report of 2 patients who initially presented with psychiatric disorders.

We studied 2 unrelated adult patients under neuroleptic treatment who met all phenotypic and biochemical criteria for Niemann-Pick disease type B. In addition, they had chronic psychiatric disorders and low blood levels of HDL cholesterol. The marked and persistent deficiency of acid sphingomyelinase and the disturbance of sphingomyelin metabolism in skin fibroblast subcultures ruled out a pure drug-induced lipidosis. The association of Niemann-Pick disease type B with psychiatric disorders and with low levels of HDL cholesterol could be a chance association of 2 diseases, a new phenotype of Niemann-Pick type B, or the revelation by the neuroleptic treatment of a subclinical inborn sphingomyelinase deficiency.

Adult↗
PubMed1989

Is there a maturation defect related to calcium in muscle mitochondria from dystrophic mice and Duchenne and Becker muscular dystrophy patients.

In our study, mitochondria were isolated from skeletal muscle in 2-, 3-, 4-, 6-, 8-, and 12-week-old normal (C57BL6j dy/+), and 4-, 8-, and 12-week-old dystrophic (C57BL6j dy/dy) mice and in normal subjects and patients with Duchenne or Becker muscular dystrophy. A deficit was observed in a calcium-specific mitochondrial protein in the very young control mouse, compared with the adult mouse. In the adult dystrophic mouse this deficit was found in clinically affected hindleg muscles as well as in apparently normal front leg muscles; it was also found in quadriceps muscles from patients with Duchenne and Becker muscular dystrophy. It is not observed in normal adult mice or in normal subjects. The body of our results suggests that in the forms of muscular dystrophy studied there would be a maturation defect in this calcium-binding mitochondrial protein ("calmitine"), a defect which might be generalized in the entire skeletal muscle system and conceivably could be the cause of muscle degeneration in certain myopathies such as Duchenne and Becker muscular dystrophy.

Adult↗
PubMed1989

[Epidemiology of Horton's disease. Is there an environmental factor, infective in particular?].

Epidemiological studies of temporal arteritis have essentially only been reported in the English literature. The authors of this study were concerned with this aspect of temporal arteritis in the Loire-Atlantique region of France over a period of 10 years (1970-1979). The high prevalence in white races has been confirmed. The annual incidence in France is comparable to that seen in Northern Europe and the USA. The incidence of the disease is especially high between 70 and 80 years. The apparent female predominance is related to the greater life expectancy in women. The study of several conjugal cases does not suggest the intervention of an infectious agent. The same is true for isolated cases where the responsibility of a bacterial or viral agent has not been demonstrated. Other environmental factors (sun exposure, life-style, socio-professional classification) do not affect the incidence of the disease. The genetic background would seem to be of particular importance. This study found a significantly higher prevalence of HLA DR4 antigen, confirming the results of American and British studies. However, in contrast to previous studies, this series did not confirm an increase in HLA B8 antigen.

Environment↗
PubMed1988

[Lipid evaluation in cerebral infarction in its early phase and in the 4th month. Practical consequences].

Plasma lipid values studied in 30 subjects with stroke at days 1, 2 and 4 of the early phase indicated a significant decrease in total cholesterol, HDL-cholesterol and apolipoprotein A1 from day 1 to 4. However, there was no significant difference between values at day 1 and during the 4th month of convalescence. Since some patients admitted to hospital are never followed up later in a hospital environment, it would seem advisable, for practical purposes, to perform plasma lipid analysis on the first day of admission.

Adult↗
PubMed1988

[Immunologic response in herpes encephalitis: development of the antibody serum/cerebrospinal fluid ratio in 13 cases].

Serological monitoring was performed in 13 cases of herpetic encephalitis (one infant and 12 adults). Samples taken simultaneously from blood and cerebrospinal fluid (CSF) were tested before and after initiation of antiviral treatment. Antiherpesvirus (anti-HSV) antibodies were assayed by an ELISA method. The state of the blood-brain barrier was controlled by assaying other antiviral antibodies. Immune response was studied during the 3-to-4 weeks of the course of the infection. Anti-HSV IgG levels in CSF increased markedly after 12 days. At the same time, antibody serum/CSF ratios dropped below a value of 20, indicating intrathecal secretion of the antibody. Based on results in monitoring these 13 cases, it may be suggested that 3 samples of serum and CSF are required to confirm the herpetic etiology, including 2 samples taken during the second week of the course of encephalitis.

Adult↗
PubMed1988

Biochemical and ultrastructural features of human fibroblasts cultured from a new variant of type 3 lipid storage myopathy.

A new variant of multisystemic lipid storage myopathy (type 3) has been identified. Human cultured fibroblasts present a major triacylglycerol storage whereas other neutral lipids and phospholipids are in the normal range. When feeding the cells in the presence of radiolabelled oleic acid we observed an accumulation of radiolabelled triacylglycerols demonstrating the endogenous biosynthesis of the stored triacylglycerols. After a 72-hr chase period, no degradation of radiolabelled triacylglycerols was observed. Histochemical examination of multisystemic lipid storage myopathy skin fibroblasts showed a massive accumulation of neutral lipids (stained by the fluorescent probe Nile Red) in cells grown in medium supplemented with 10% fetal calf serum. These cytoplasmic vacuoles were not obviously membrane-surrounded as shown by electron microscopy.

Autoradiography↗
PubMed1987

[Neurotoxicity of mitotane therapy of adrenocortical carcinoma (5 cases) and Cushing's syndrome (7 cases)].

Twelve patients were treated with op'DDD over a 9-year period. All presented with mild neurological symptoms, and half of them had major complications. There was no relation between the occurrence of these symptoms and the dose or duration of op'DDD therapy. The mechanisms of this neurological toxicity, both central and peripheral, are not well known, but they appear to be similar to those of certain op'DDD-related chemicals used in industry.

Adolescent↗
PubMed1987

[Primary Gougerot-Sjögren syndrome with necrotizing polymyositis: favorable effect of hydroxychloroquine].

A 61-year-old woman was admitted for acute arthralgias and proximal weakness in all four limbs. Clinical examination found xerostomia, xerophthalmia, enlarged parotid glands. The Schirmer test was positive and the salivary gland biopsy showed a mononuclear, lymphoid, sometimes nodular infiltrate. A muscle biopsy showed necrotizing myopathy with perifascicular atrophy. The patient refused steroids and was given hydroxychloroquine (600 mg daily). She improved gradually, and one year later there were no further complications. The favorable course both of Sjögren's syndrome and polymyositis with hydroxychloroquine treatment is unexpected. This led us to suppose that both could have had a common cause.

Female↗
PubMed1985

[Increased serum IgA levels in alcoholic polyneuropathy. Pathogenetic discussion].

Increased serum IgA in patients with direct toxic alcoholic peripheral neuropathy was studied prospectively in 33 patients with an obvious clinical polyneuropathy confirmed by electrophysiological investigations. The average concentration of IgA in this group (450 mg/100 ml) was significantly higher than in a group of 24 matched alcoholic control patients without peripheral neuropathy (306 mg/100 ml), p less than 0.0001. The authors discuss possible direct and indirect modifications of the humoral immune response due to the peripheral neuropathy.

Alcoholism↗
PubMed1984

[Thalamic hematoma: review of semiology and computed x-ray tomography in 14 cases].

Thalamic hematomas occur chiefly in hypertensive patients aged 50 to 70; characteristic presentation is a triad associating a sensory syndrome, oculomotor disorders, and alterations in consciousness; computed tomography not only establishes diagnosis but provides additional information, particularly on the size and volume effect of the hematoma which may, according to some authors, indicate surgical removal.

Adult↗