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Biomedical subjects

H Carrier

Publications and source records attributed to H Carrier.

At least 37 records · Page 2Linked to original sources
PubMed1982

[Recurrent paroxysmal myoglobinuria with acute renal insufficiency caused by muscular carnitine (palmitoyltransferase deficiency. A case].

A 45-year-old man was hospitalized on 3 occasions for recurrent myalgias with paroxysmal myoglobinuria resulting in two episodes of acute renal failure. The second episode was fatal: the patient died of shock and hyperkaliaemia during haemodialysis. The predominant signs and symptoms were muscle pain with functional deficit, signs of renal failure and a rise in serum enzymes. All examinations were negative between attacks. Muscle biopsies showed a major degree of myolysis, and biochemical tests demonstrated severe muscle palmityl transferase deficiency associated with partial deficiency of muscle carnitine. The diagnostic features and physiopathology of the disease are reviewed.

Acute Kidney Injury↗
PubMed1979

[Primary cardiomyopathy in children with lipid infiltration of the myocardium and skeletal muscles and demonstration of a palmityl-carnitine transferase deficiency. Apropos of 4 cases].

The authors report four cases of metabolic cardiomyopathy with lipid infiltration diagnosed by skeletal muscle and myocardial biopsy in children with no clinical signs of muscular dystrophy. Normal or increased serum and urinary carnitine levels excluded a primary carnitine deficiency. A deficiency in muscular-palmityl-carnitine-transferase was demonstrated. This pathogenic mechanism may be an indication for treatment with carnitine, but the results are less spectacular than in primary carnitine deficiency states.

Acyltransferases↗
PubMed1979

[Oculocraniosomatic neuromuscular disease].

A child with a myopathy that started in the pelvic girdle, non-obstructive cardiomyopathy and retinitis pigmentosa is described. There was a progressive neurological deterioration with external ophthalmoplegia and ptosis. The clinical course could be predicted from the appearance of the muscle biopsy.

Adolescent↗
PubMed1978

[The neuropathies of monoclonal gammapathies. Immunofluorescence and immunolabelling in the electron microscopy of immunoglobulins with amyloid structure (author's transl)].

Five cases of peripheral neuropathies occurring with monoclonal gammapathies are studied by means of nerve biopsies. Immunofluorescence and HRP-immunolabelling with the electron microscope are performed. The direct pathogenic role of a subperineurial immunoglobulin deposit is pointed out. The relationship of the heavy chain monoclonal immunoglobulin with amyloid fibrils is discussed.

Aged↗
PubMed1978

[Heterogeneity of glycogenosis with alpha-1,4-glucosidase deficiency: enzymatic studies in three families (author's transl)].

The authors describe four cases of atypical forms of glycogenosis with alpha-1,4-glucosidase (acid maltase) deficiency. The results of clinical, microscopic, histochemical, enzymological and immunological studies are described. Acid maltase activity has been studied in muscle, leukocytes and fibroblasts. The authors show no difference in the properties of acid maltase; the authors study the purified enzyme from various tissues.

Antibodies↗
PubMed1978

[Familial congenital muscular dystrophy caused by phosphofructokinase deficiency].

Two children, born to related parents, presented since birth a muscular defect rapidly complicated by painful joint stiffness. The oldest child died at 6 months of age, from respiratory complications. The second-14 month old- does not sit without support. The muscle fibres are of unequal calibre and numerous fibres have under-sarcolemmal PAS positive areas contain glycogen, as seen on electron microscopy. In the second patient, the biochemical analysis showed a moderate glycogen accumulation and muscular enzymatic studies demonstrated an isolated and major deficiency in phosphofructokinase activity. Activity was normal in red blood cells and in fibroblasts cultured in vitro. Hence, these cases should be distinguished from formerly reported cases of phosphofructokinase deficiency. This type of P.F.K. deficiency should be looked for in patients with severe congenital muscular dystrophy and early joint involvement.

Erythrocytes↗
PubMed1977

[Hemispheric asymmetries of the human brain].

The authors studied 181 brains, 103 of which were dissected. They observed a "T1-T2 bridge" over the first temporal and second temporal gyri more often on the left side than on the right. This asymmetry was more frequent in males than in females. The maximal width of the superior aspect of the second temporal gyrus was greater on the right side in the majority of cases. By contrast, the fusiform gyrus was found wider on the left side in most subjects. The length of the precuneus was greater on the right. The greater size of the left planum temporale could be correlated with the sectional area of the anterior white commissure. The same correlation was found between the length of the precuneus and the area of the latter commissure. Anatomical asymmetries of the two cerebral hemispheres in man seem to be numerous. The interpretation of these asymmetries is difficult; some are likely to be related to functional asymmetries. In the future, the study of morphological asymmetries in routine neuropathology, in patients who have been submitted to detailed neuropsychological examination, would appear to be desirable.

Cerebral Cortex↗
PubMed1976

[Proliferation of the transverse tubular system during a tardive and familial myopathy].

The authors report a case of non-progressive, late-onset, recessive, sex-linked myopathy. Electron microscopy reveals a striking proliferation of the T system. This proliferation might be interpreted as indicating an abortive attempt of muscle to regenerate, which could explain the clinical course. Some basic ultrastructural aspects concerning the T system are reported. The signification of the findings of numerous "zebra bodies" is discussed.

Adult↗
PubMed1976

[Neurological manifestations in monoclonal gammapathies. Pure neurological manifestations. Immunofluorescence study].

Analysis of 105 peripheral and central nervous system complications in 1062 monoclonal gammapathies draws attention to two types of phenomena. The possibility of pure neurological manifestations of IgM monoclonal gammapathies with macroglobulinorachia leads to discussion of their nosological position in relation to Waldenström's disease, Burkitt's lymphoma and Marek's disease. It is suggested that these cases should be reclassified under the heading "secreting neurolymphomatosis". Immunofluorescence and electron microscopy of 10 biopsies of the peripheral nerve showed deposits of monoclonal immunoglobulin whose function in determining peripheral neuropathies is discussed. The simultaneous presence of lymphoid infiltration, amyloid deposits and the monoclonal immunoglobulin (M component) suggests that this immunoglobulin could be the link between the cellular infiltrate secreting it and amyloid infiltration which would be the visible manifestation of it.

Amyotrophic Lateral Sclerosis↗
PubMed1975

[Neuropathology of trichopoliodystrophy (Menkes' disease). Anatomoclinical observation].

The authors describe an anatomo-clinical case of trichopoliodystrophy in many ways similar to cases already published. The original features of the case are as follows: the ultrastructure of the duodenal mucosa is normal; the endoplasmatic reticulum of the putaminal neurons contains many-layered lamellar structures probably composed of protein; type II fibres predominate in the striated skeletal muscle suggesting abnormal neuromuscular maturation.

Blindness↗
PubMed1975

[Physiopathological and neuropathological study of a cerebral decortication syndrome].

Detailed observation of a case of laminar necrosis of almost the whole of the cerebral cortex has led to several deductions concerning the physiology of the cortex in man. It suggests that the cortex has a limited influence on sleep, interfering particularly in the electro-encephalographic translation of slow sleep and, curiously, in the organisation of sleep, paradoxical sleep is hardly affected at all. It confirms the importance of the human cortex in the acquisition of elementary skills and describes a new oculomotor pattern in a decorticate man.

Adult↗
PubMed1975

[Clinical, ultrastructural and biochemical study of a case of GM1 type 2 gangliosidosis].

Clinical, histological, ultrastructural and biochemical studies have been performed in a living 20-month-old infant with GM1-gangliosidosis type 2. Rectum, brain and liver biopsies were done. The histological and ultrastructural examination revealed the presence of cytoplasmic membranous bodies in the nervous system and a vacuolisation of the visceral parenchymatous cells, particularly histiocytes. The diagnosis was established by the finding of a generalized beta-galactosidase deficiency and an accumulation of GM1-ganglioside in brain. In leukocytes, the activity of p-nitrophenyl-beta-galactosidase was below 5%, and that of GM1-ganglioside beta-galactosidase below 1% of values obtained in controls. In cerebral tissue, GM1 ganglioside constituted 80% of total gangliosides; its concentration was 15 times that in age-matched controls. No accumulation of GM1 could be evidence in liver. Enzymatic examination of leukocytes obtained from the consanguineous parents revealed heterozygote values.

Brain↗