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Results for “DEFICIENCY DISEASES”

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At least 271 records · Page 15Linked to original sources
PubMed1985

Hairy cell leukemia: an interferon deficient disease?

rIFN-alpha 2 is an effective substance in the treatment of HCL. Although the complete eradication of hairy cells from the bone marrow is rarely possible, a dramatic improvement of profound cytopenias can be obtained in most patients, 12 out of 13 in this study. The response can be seen after a median treatment duration of about 2 months and appears to be independent of the presence of the spleen. Once a stable improvement of the peripheral blood values is achieved, one dose of rIFN-alpha 2 every other week may be sufficient to maintain the cell counts. The mechanism(s) by which IFN acts remain unclear. We speculate, that HCL is an IFN deficient syndrome because monocytes which are the major source of IFN-alpha are severely depressed in this lymphoproliferative disorder. Following this hypothesis, the IFN therapy would be comparable to the substitution of insulin in diabetic patients.

Adult↗
PubMed2003

DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

Xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) are genetic disorders with very different clinical features, but all associated with defects in nucleotide excision repair. Defects in the XPA or XPC genes confer sensitivity to UV carcinogenesis in both humans and mice, but only XPA(-/-) mice have increased acute responses to UV exposure, whereas XPC(-/-) mice are normal in this respect. Both XPE and XPF proteins have functions separate from their role in NER, but the exact nature of these functions has not yet been established. The CSA and CSB genes responsible for CS are both components of complexes associated with RNA polymerase II and their role is thought to be in assisting polII in dealing with transcription blocks. XPB and XPD proteins are components of transcription factor TFIIH, which is involved in both basal and activated transcription. XPB is part of the core of TFIIH and has a central role in transcription, whereas XPD connects the core to the CAK subcomplex, and can tolerate many different mutations. Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes, which can be XP, TTD, XP with CS, XP with TTD or COFS. Features of single and double mutant mice indicate that the neurological and ageing features associated with these disorders result from the defects in NER in association with the transcriptional deficiencies. Skin tumours in XP patients have mutations characteristic of UV-induction in the ras, p53 and ptch genes, showing that sunlight-induced mutations in these genes are important in carcinogenesis in XP patients.

Aging↗
PubMed1975

Transfer factor as an approach to the treatment of immune deficiency disease.

Use of transfer factor in the treatment of chronic mucocutaneous candidiasis is discussed. The clinical experience in treating 2 patients with different clinical expressions of the syndrome and their different responses to treatment with repeated injections of transfer factor given in conjunction with amphotericin-B are reported. Results indicate that this form of therapy is a safe and effective way of restoring cell-mediated immunity to Candida and successfully treating some patients with chronic mucocutaneous candidiasis.

Amphotericin B↗
PubMed1975

[Tuberculous meningitis and antibody deficiency disease (author's transl)].

A 13 year old girl not vaccinated with BCG became ill with tuberculous meningitis. After administration of 30 g of Streptomycin, cell counts and protein concentrations of the cerebro-spinal fluid returned to normal values. After continuation of antituberculous therapy without Streptomycin, the patient relapsed, and Streptomycin had to be given for 14 months. Defect in humoral immunity was diagnosed with low IgG and low titers of antiviral antibodies. For this reason the patient was additionally treated with passive administration of antibodies.

Adolescent↗
PubMed1990

Iodine deficiency diseases in Switzerland one hundred years after Theodor Kocher's survey: a historical review with some new goitre prevalence data.

In certain regions of Switzerland, before prophylaxis, 0.5% of the inhabitants were cretins, almost 100% of schoolchildren had large goitres and up to 30% of young men were unfit for military service owing to a large goitre. Iodization of salt was introduced in 1922 at 3.75 mg I per kg and the iodine content was doubled twice, in 1962 and 1980, to the present 15 mg I per kg. In 1988, 92% of retail salt and 76% of all salt for human consumption (including food industry) was iodized, even though its use is voluntary. Urinary iodine excretion, previously between 18 and 64 micrograms per per day, has now risen to 150 micrograms per day. No new endemic cretins born after 1930 have been identified. Goitre disappeared rapidly in newborns and schoolchildren, more slowly in army recruits, and incompletely in elderly adults. In some Cantons (by constitution in charge of health matters and the salt monopoly) which allowed iodized salt only in 1952, disappearance of goitre lagged behind accordingly, proof that iodized salt was the cause of regression. The Swiss data provide evidence that isolated deafness, mental deficiency, and short stature, each without the other attributes of cretinism have also decreased. Adverse effects of iodized salt were minimal, possibly because the initial iodine content of salt was chosen very low. Iodization of salt has proved a highly cost-effective preventive measure in Switzerland.

Adult↗
PubMed1988

Phrynoderma: is it an EFA deficiency disease?

The clinical response to various therapeutic agents was evaluated in 31 patients with phrynoderma. A complete clinical response with vitamin B-complex was noted in an average period of 5.7 weeks. In patients treated with vitamin E, partial or total improvement was seen in an average period of 12.3 and 10.7 weeks respectively. Patients treated with safflower oil showed a partial improvement in an average period of 13.2 weeks. The essential fatty acid (EFA) nutriture of 30 patients was compared with 7 controls. Plasma phospholipid fatty acid composition was used as an indicator of EFA nutriture. The patients with phrynoderma fell into two groups. In the 23 children in one group (pattern A), the mean levels of linoleic (18:2 omega 6), arachidonic (20:4 omega 6) and eicosatrienoic (20:3 omega 9) acids were similar to the levels in the controls. The ratio of eicosatrienoic to arachidonic acids (20:3 omega 9/20:4 omega 6), which is considered an accurate measure of EFA nutritional status, was 0.12 and in the normal range, suggesting that the EFA nutriture is normal in phrynoderma. The ratio of linoleic to arachidonic acids (18:2 omega 6/20:4 omega 6) was also found to be normal, suggesting that the metabolism of linoleic to arachidonic acid is not affected in phrynoderma. In seven children in a second group (pattern B), the fatty acid profile was different from patients with pattern A. In these two groups no obvious differences were noted in clinical features and severity. In patients treated with safflower oil, the mean levels of vitamin E were elevated. On all the three treatment schedules, the levels of other fatty acids were not altered. The biochemical and clinical evidence obtained indicate that phrynoderma may not be directly associated with EFA deficiency but that vitamin B-complex may have an important role. The plasma phospholipid fatty acid profile seems to reflect neither the clinical situation nor the response to therapy.

Adolescent↗
PubMed1986

Long-term immunological reconstitution by peripheral blood leucocytes in severe combined immune deficiency disease: implications for the role of mature lymphocytes in histocompatible bone marrow transplantation.

A 7 month old girl with severe combined immunodeficiency disease (SCID) received a single transfusion of peripheral blood leucocytes from her histocompatible grandfather in an attempt to achieve immunological reconstitution. There was rapid restoration of humoral and cellular immunity which has persisted undiminished over a 54 month follow-up period and the patient has remained free of any significant infections. Lymphocytes of donor karyotype were repeatedly demonstrated in the patient's peripheral blood. In contrast, no evidence of donor cell engraftment in her bone marrow could be obtained by karyotypic, antigenic or enzyme phenotypic analyses. These observations suggest that long term immunological reconstitution may be achieved solely by peripheral engraftment of mature lymphocytes. A review of the literature reveals that this mechanism of immunological reconstitution may not be uncommon following histocompatible bone marrow transplantation for treatment of SCID.

Blood Transfusion↗
PubMed1987

Characterization of B lymphocyte lineage progenitor cells from mice with severe combined immune deficiency disease (SCID) made possible by long term culture.

A single gene mutation results in near absence of B and T lymphocytes and their immediate progenitors in mice with severe combined immunodeficiency disease (SCID). However, long term culture conditions allowed rapid outgrowth of lymphocytes from SCID bone marrow suspensions, and this permitted their detailed analysis. The cells were judged to be committed to the B lymphocyte lineage on the basis of expression of the BP-1 antigen, as well as by the density and pattern of expression of other markers. Cultured SCID lymphocytes were indistinguishable from control BALB/c cells in terms of morphology, typing for 13 cell surface markers, and changes in cell surface antigen expression with time in culture. In contrast to cultures of normal cells, which always included IgM synthesizing cells, SCID lymphocytes rarely expressed mu heavy chains. Southern blot analysis demonstrated that at least the first Ig gene rearrangement step had occurred in most of the cultured cells. The patterns of JH gene rearrangements suggested that relatively limited population diversity existed in individual cultures of SCID and normal BALB/c marrow. In addition, there was evidence that abnormal Ig heavy chain gene rearrangements had taken place in lymphocytes from approximately 25% of the SCID cultures. These cells were distinguished by the absence of detectable JH gene segments. kappa light chain genes appeared to be unrearranged in SCID cultured lymphocytes. We conclude that the lymphopoietic microenvironments of SCID mice are probably normal, and the animals have infrequent progenitors of B cells. Aberrant or nonproductive IgH gene rearrangements may account for the absence of pre-B and B cells in SCID mice. This study demonstrates the usefulness of long term culture methodology for isolating rare subsets of non-transformed lymphoid cells from normal and genetically defective hemopoietic tissues.

Animals↗
PubMed1978

The two human lactosylceramidases and their respective enzyme activity deficiency diseases: inhibition studies using p-nitrophenyl-beta-D-galactoside.

Total lactosyl ceramide beta-galactosidase (LC) activity from normal and pathologic human leukocytes and tissues was subdivided into LC I (EC 3.2.1.46) and LC II (EC 3.2.1.23) activity by means of specific inhibition of LC II with 5 mM p-nitrophenyl-beta-D-galactoside (Ki = 1.5 mM). In globoid-cell leudodystrophy, inhibition of total LC was nearly complete (only LC II is active), whereas in GM1-gangliosidosis Type 1, very little inhibition was found (only LC I is actict). Total LC activity was not significantly low in either of the diseases, which have different genetic origins. The ratio of LC I to LC II activity may display remarkable genetic variation in normal probands.

Child↗