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At least 19 recordsLinked to original sources
PubMed1975

[X-Ray and clinical study of the nose, sinuses and maxilla in patients with severe iron deficiency disease (author's transl)].

A definite relation between ozaena and iron deficiency disease could not be verified. However, the examination of 88 patients with severe iron deficiency disease, mostly of juvenile age, revealed that X-ray pictures of the nose and the paranasal sinuses showed abnormal alterations indicating the existence of a non-inflammatory process. There were few symptoms from the nose and the neighbouring structures as well as insignificant clinical findings by inspection of these structures. The increased opacity of the maxillary sinuses on the roentgenograms and some other changes are considered to be partially due to the insufficient pneumatisation which is related to the retarded development and maturation of juvenile patients with iron deficiency disease. Furthermore, it is caused by the enlargement and thickening of the facial bones resulting from the expansive growth of the hyperplastic and hypertrophic red marrow filling completely the cancelous substance. The space of the maxillary sinuses is narrowed in many cases, the penetration power of the X-ray diminished and the clearing effect of the air containing cavities decreased.

Adolescent↗
PubMed1978

Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.

A new form of hexosaminidase deficiency disease is characterized clinically by mild, juvenile-onset, very slowly progressive cerebellar ataxia with macular cherry-red spots and absence of other findings. Biochemically there is striking hexosaminidase deficiency in serum, leukocytes, and fibroblasts. Hexosaminidase B appears absent, but hexosaminidase A-like and S-like activity is present on starch-gel electrophoresis. We studied hexosaminidase in leukocytes and serum from members of an affected patient's family and traced the enzyme defect through four generations. Leukocyte heat-stabile hexosaminidase in obligate and presumptive carriers was depressed both in specific activity (nanomoles per milligram of protein per hour) and as a percentage of total hexosaminidase. The carrier state was expressed in serum, but overlap with controls made this test unreliable. The similarity of these carriers to carriers of Sandhoff disease suggests that the disorders may be closely related, perhaps as allelic mutations of the hexosaminidase beta subunit. Those involve with screening for Tay-Sachs disease should be aware that persons with an increased percentage of hexosaminidase A--that is, a decreased heat-stabile fraction--may be carriers of hexosaminidase deficiency diseases.

Chemical Phenomena↗
PubMed1979

Bone marrow transplantation for correction of enzyme deficiency disease.

Mutant acatalasemic mice provide a prototype of congenital enzyme deficiency disease. Normal blood catalase levels were achieved permanently in congenitally acatalasemic mice by transplantation of bone marrow cells from congeneic normal catalasemic mice using relatively small numbers of cells following whole body irradiation. The increase in blood catalase activity was physiologically effective as demonstrated by the protection of the previously acatalasemic mice against the otherwise lethal effects of hydrogen peroxide injections. Bone marrow transplantation has the potential to provide a continuous source of some enzymes and may be applicable as treatment for certain congenital enzyme deficiency diseases.

Acatalasia↗
PubMed1977

Immunoglobulin deficiency diseases of the intestine.

Marshak has emphasized the role of the gastrointestinal tract as a major immunologic organ and described the radiologic findings of immunoglobulin deficiency diseases of the small intestine. According to his classification the radiologic findings include multiple nodular defects, edema and increased secretions associated with Giardiasis, a sprue-like pattern, and thickened folds. In this report, the role of the intestine in the immune response is briefly reviewed and several of the radiologic features of immune deficiency diseases and those of benign nodular lymphoid hyperplasia are illustrated.

Adolescent↗
PubMed1977

Schizophrenia as a prostaglandin deficiency disease.

Evidence that schizophrenia may be a prostaglandin deficiency disease comes from three main sources: (1) all effective antischizophrenic drugs stimulate prolactin secretion and prolactin is a potent stimulator of prostaglandin synthesis; (2) schizophrenics are resistant to pain and inflammation and are free of rheumatoid arthritis and there is increasing evidence that prostaglandins play important roles in pain, inflammation, and rheumatoid arthritis; (3) high doses of drugs recently shown to be prostaglandin antagonists cause schizophrenia-like syndromes. The hypothesis is not necessarily inconsistent with current transmitter theories of schizophrenia since prostaglandins modify transmitter secretion and action. It does indicate radically new approaches to investigation, treatment, and drug design not suggested by the transmitter concepts.

Antipsychotic Agents↗
PubMedDate not supplied

[Multiple sclerosis: a multi-specific immune deficiency disease].

New immunological data (Brit. med. J., 1976, 1, 183-186) lead us to a fundamental reconsideration of the immunopathological concept of multiple sclerosis (MS). The increased incidence of the infection rate during childhood, the low humoral and cell-mediated immune responses towards many bacterial and viral antigens and the presence of these specific immune deficiencies in a group of doubtful MS cases being at the first bout of the disease, led us to consider MS as a multi-specific immune deficiency disease, possibly having its origin in the genes controlling the immune response to these specific antigens. We now consider MS as being the end result of multi-specific immune deficiencies, which would explain the increased incidence of tonsillectomies, appendicectomies and repeated infections during childhood and the presence of numerous small inflammatory and pyrexic processes, often benign, but susceptible to cause in the target tissue--the central nervous tissue--the demyelinization process which could well be not specific at all. This new optic opens the way to the use of different immunotherapy regimens including transfer factor or whole lymphokines, and stimulation of the immune response with immunological adjuvants rather than immunosuppressive agents used during recent years (like steroids, ACTH) which have an antiinflammatory as well as an immunosuppressive function.

Antibody Specificity↗
PubMedDate not supplied

[Role of folic-acid deficiency in deficiency diseases of the nervous system. Apropos of 12 cases including an anatomo-clinical case].

The authors report 12 cases of neurological syndromes due to folic acid deficiency, due in 8 cases to chronic alcoholism. In 5 cases there was polyneuritis, 3 cases had cerebellar atrophy, whilst 4 patients had subacute combined degeneration of the cord. Folic acid deficiency occurred alone in five cases out of twelve, as in 3 cases vitamin B1 deficiency was associated, and in four cases there was malabsorption of vitamin B12. A neuropathological study of these cases showed: 1) moderate involvement of the mamillary tubercles as observed in deficiency encephalopathies. 2) severe peripheral nerve involvement especially of axonal type. 3) involvement of the anterior horns of the spinal cord with appearances of central chromatolysis and a few atrophic neurones.

Adult↗
PubMed1977

Acquired zinc deficiency disease of skin.

Two patients, who were on long term parenteral hyperalimentation, developed skin lesions similar to those seen in acrodermatitis enteropathica. Both patients were treated with oral zinc sulphate and their skin lesions cleared completely. These patients are presented as an acquired zinc deficiency syndrome.

Female↗
PubMed1977

A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.

A boy with mild hand tremor since age 2 1/2 was found at 4 to have cherry-red spots and mild trucal ataxia without seizures or dementia. Biochemically, he had striking hexosaminidase deficiency (serum: 4.6 percent of normal, 88.9 percent heat-labile; leukocyte: 2.2 percent of normal, 84.6 percent heat-labile; fibroblast 12.8 percent normal, 93.1 percent heat-labile). The residual hexosaminidase activity migrated electrophoretically in two bands. The major band comigrated with hexosaminidase A, the minor with hexosaminidase S. Hexosaminidase B was totally absent. The parents had partially reduced hexosaminidase with a decreased heat-stabile fraction. This disorder may result from a new mutation closely related to that causing Sandhoff-Jatzkewitz disease.

Cerebellar Ataxia↗