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  • 1
    Electronic Resource
    Electronic Resource
    Effect of diabetic control on the level of circulating thyroid hormones (1982)
    Springer
    Diabetologia 22 (1982), S. 486-488 
    Details
    ISSN: 1432-0428
    Keywords: Type 1 and Type 2 diabetes ; circulating thyroid hormones ; glycosylated haemoglobin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Basal plasma levels of thyroxine (T4), triiodothyronine (T3) and reverse T3 were determined by radioimmunoassay in 44 control subjects, 44 Type 1 (insulin-dependent) and 39 Type 2 (non insulin-dependent) diabetic patients aged from 15 to 75 years. All were clinically euthyroid. The quality of diabetic control was assessed by the percentage of glycosylated haemoglobin. In both the diabetic groups there was a significant decrease in T3 and a rise in reverse T3 whereas T4 was normal. We found no significant differences between plasma thyroid hormone levels in Type 1 and Type 2 diabetic patients. In the poorly controlled diabetics (glycosylated haemoglobin ⩾ 12%), T3 was 90±5 ng/dl, which differed significantly from the level found in the better controlled patients (106±5 ng/dl, p〈0.01). In the diabetic patients without associated illness, a negative linear correlation was found between T3 and glycosylated haemoglobin and a positive correlation between reverse T3/T3 and glycosylated haemoglobin. No correlation between T3 or reverse T3 and fasting blood glucose could be established. In conclusion, many diabetics showed a low T3 syndrome suggesting that there may be an impairment in the extrathyroidal conversion of T4 to T3. This may well be enhanced by a poor diabetic control (glycosylated haemoglobin ⩾12%).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00282596
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  • 2
    Electronic Resource
    Electronic Resource
    Germline mosaicism for an alanine to valine substitution at residue β 140 in hemoglobin Puttelange, a new variant with high oxygen affinity (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 711-716 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Hb Puttelange [β140(H18)Ala→Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia. Both parents were phenotypically normal and exclusion of paternity has been ruled out by the study of several polymorphic markers located on different chromosomes. The structural modification of Hb Puttelange was established by reversed-phase HPLC analysis of the tryptic digest of the abnormal chain. The amino acid composition of an abnormal βT14 peptide revealed that one of the four residues of Ala was replaced by a Val. Tandem mass spectrometry demonstrated that the substitution concerned position β140 (H18). This hemoglobin displays an increased oxygen affinity that is responsible for the polycythemia. De novo mutations, as demonstrated again in the case of this variant, have the highest probabilities of detection when they lead to pathological manifestations. They may result either from a somatic mutation in a very early stage of the embryological development of the propositus or may have a parental origin with occurrence of a germline mosaicism. The study of the β-globin gene indicated that this case of Hb Puttelange probably arose from a mutation affecting a part of the germline of the father, therefore leading to a true recurrence risk.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210304
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  • 3
    Electronic Resource
    Electronic Resource
    QUANTITATIVE STUDIES OF Gm ALLOTYPES II. G1m(1), G3m(5) AND G3m(21) IN SERA FROM HEALTHY CAUCASOID BLOOD DONORS, AND IN A FAMILY WITH THE INHERITANCE OF A GENE RESPONSIBLE FOR A WEAK Gm1, 17, 21, HAPLOTYPE (1977)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 4 (1977), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: The quantitative expression of three allotypes–Glm(1), G3m(5) and G3m(21)–has been studied in normal caucasoid sera. A gene dosage effect, previously described for all of these allotypes, is not noticed for G3m(5) in the present study. The different content of G3m(5) and G3m(21) IgG 3 molecules in heterozygous Gm5/Gm21 sera has been verified: these contents are respectively 75% and 25% of the IgG3 content.The same allotypes have been studied in a family which shows the inheritance of a weak Gm1, 17; 21 haplotype. The gene responsible for this abnormality is probably a new regulatory gene, and is transmitted without the ‘aimed’ haplotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1977.tb00923.x
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  • 4
    Electronic Resource
    Electronic Resource
    A WEAK HUMAN MLR LOCUS MAPPING AT THE RIGHT OF A CROSSING-OVER BETWEEN HLA-D, Bf AND GLO (1978)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 5 (1978), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: An unexpected MLR reaction has been observed between three HLA-identical sibs; it consists of a bidirectional positive MLR between identical female twins and a sister. No argument for a lymphoid mosaic could be found, although twins were frequent in the family; similary no HLA-A/B or HLA-B/D recombinant could be demonstrated.The MLR, although weak, was highly reproducible. PLTs could be raised between the sibs, without an apparent segregation in this family nor in five other families, but such PLTs discriminated well between the positive and negative controls. In the absence of any proof that such a weak MLR locus could be on another chromosome than chromosome 6, two lines of argument are indirect evidences that such a locus could be indeed on chromosome 6: one of the sibs differs from the two others for two markers outside HLA-D-DR-Bf: glyoxalate (GLO) and red blood group P.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1978.tb00667.x
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  • 5
    Electronic Resource
    Electronic Resource
    A randomized study of combined 5-fluorouracil and plasma perfusion over protein A-Sepharose in human advanced colorectal carcinoma (1990)
    Springer
    Biotherapy 2 (1990), S. 87-94 
    Details
    ISSN: 1573-8280
    Keywords: protein A-Sepharose ; 5-fluorouracil ; colon carcinoma ; toxicity ; tumor response
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To evaluate the advantage with regard to toxicity, response rate, time to progression and survival of combination chemoimmunotherapy over single-agent chemotherapy in patients with metastatic colorectal carcinoma (CRC), 30 patients were randomized to receive a combination of 5-fluorouracil (5-FU) by continuous i.v. infusion and plasma perfusion (PP) over protein A-Sepharose (group A), or a combination of 5-FU and PP over sepharose (group B) or 5-FU alone (group C). 5-FU was given at 1,000 mg/m2/d on days 1-5 of a 4-weekly cycle until progression. Patients of groups A and B received bi-weekly on-line PPs until disease progression or for a maximum of 19 treatments. PP was well tolerated and no severe or life-threatening toxicity was observed. The response rates were 10% for the group A (1 PR), 0% for the group B and 20% for the group C (1 CR + 1 PR). The times to tumor progression for patients in groups A and C were 22 months, 12 and 11 months, respectively and the median survival times were 17 months, 10 months and 9 months. Although the time to progression and survival tended to be higher in patients treated with protein A. PP, these differences were not statistically significant. This is the first report of a randomized trial showing some therapeutic advantage in combining protein A. PP with 5-FU in CRC patients. Further randomized studies are required to demonstrate the real true value of this chemoimmunotherapeutic approach.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02172080
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  • 6
    Electronic Resource
    Electronic Resource
    G-6PD “ankara”. A new G-6PD variant with deficiency found in a Turkish family (1975)
    Springer
    Human genetics 〈Berlin〉 27 (1975), S. 247-250 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A new G-6PD variant with enzyme deficiency is described in a 7-month-old Turkish boy without any hemolytic manifestation, except neonatal hyperbilirubinemia. The main characteristics of this variant were the following: Severe enzyme deficiency in erythrocytes (8% of normal), fast starch-gel-electrophoretic mobility (110% of normal), increased Ki NADPH with respect to NADP+, slightly biphasic pH curve, enzyme instability, in vivo and in vitro, decreased molecular specific activity (58% of normal).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278353
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  • 7
    Electronic Resource
    Electronic Resource
    G6PD Vientiane: A new glucose-6-phosphate dehydrogenase variant with increased stability (1978)
    Springer
    Human genetics 〈Berlin〉 43 (1978), S. 85-89 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A new G6PD variant, called G6PD Vientiane, has been discovered in a patient from Laos. The characteristics of this variant are: mild enzyme deficiency (about 50% of the normal activity) in the granulocytes and the red cells, with normal G6PD-related antigen concentration; increased stability; normal Km glucose 6-phosphate and NADP+; increased inhibition constant by NADPH; decreased inhibition by ATP; slightly increased utilization of the substrate analogue; abnormal pH curve, with maximum activity at pH 9.5; slightly reduced starch gel electrophoretic migration. The implications of the molecular stability of a deficient mutant variant are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00396482
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  • 8
    Electronic Resource
    Electronic Resource
    DNA amplification of HIV genome in hemophiliacs and in newborns from seropositive mothers (1991)
    Springer
    Annals of hematology 62 (1991), S. 165-168 
    Details
    ISSN: 1432-0584
    Keywords: Hemophilia ; HIV ; PCR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We evaluated the validity of DNA enzymatic amplification (PCR) in a population at risk for HIV-1 infection, consisting of hemophiliacs and children born to seropositive mothers. All but one of the seropositive hemophiliacs and controls were found positive with the three sets of primers. All the seronegative patients and controls were found negative in PCR. No correlation with the anti-nef serology was found, one seropositive being anti-nef negative and three seronegative anti-nef positive. The results obtained with PCR are in good agreement with classical serology, and this would suggest that the possible period of latency may not be as long as suspected. No seroconversion has been described in hemophiliacs since solvent-detergent inactivated blood products have been in use, and seronegative hemophiliacs no longer constitute a population at risk. Studies on seronegative sexual partners of seropositive patients would be of great interest. For newborns from seropositive mothers, PCR is the only possible technique in early age before seronegativation of the healthy children. Further studies will be required to determine the fiability and sensitivity of the test.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01703142
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