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Biomedical subjects

J Traeger

Publications and source records attributed to J Traeger.

At least 127 records · Page 7Linked to original sources

Defective synthesis of HbE is due to reduced levels of beta E mRNA.

Haemoglobin E (alpha 2 beta 2(26)Glu leads to Lys) is one of the commonest haemoglobin variants. There are an estimated 30 million carriers of the beta E gene in South-East Asia, where they comprise more than 50% of the population in some areas; however, the reasons for this high frequency have never been adequately explained. Homozygotes for HbE may be midly anaemic, but they do not have any clinical disability. However, individuals heterozygous for both beta E and beta thalassaemia (HbE/beta thalassaemia) have a severe clinical disorder which in some cases may approach that seen in homozygous beta thalassaemia and which is by far the commonest form of symptomatic thalassaemia in the Indian subcontinent and South-East Asia. Haemoglobin E is the only common structural variant which interacts with beta thalassaemia to produce a severe disorder and the underlying mechanism of the interaction is not known. We have studied several homozygotes and heterozygotes for HbE and show here that the beta E chain is inefficiently synthesized and produces the phenotype of a mild form of beta thalassaemia; hence, when inherited together with beta thalassaemia it causes a marked beta-chain deficit. Furthermore, the mechanism for the defective production of beta E chains seems to be a reduction of beta E mRNA, a most unexpected finding in a disorder caused by a single amino acid substitution and presumably by a single nucleotide change in the DNA of the beta globin gene.

Globins↗

[The interaction of cellular immunity and of viral factors in the pathogenesis and the resolution of HB virus infections in hemodialysis (author's transl)].

A study of delayed cutaneous hypersensitivity (DC) was carried out in 50 chronic hemodialysis patients divided into 3 groups according to their serological response to the HB virus (HBV): 31 chronic carriers of Ag HBs (13 HBe positive and 18 HBe negative and 19 having eliminated Ag HBs, antiHbs positive). The results of DCH testing were compared in relation to the 3 patient groups. The number and sum of indurations were reduced, this being more marked in the women, in all the uraemic patients tested. Male hemodialysis patients who were carriers of Ag HBe had the weakest responses, significantly more depressed than those of the HBe positive HBe negative or anti-HBs carrier patients. The presence of Ag HBe was correlated with persistently raised transaminases. In chronic carriers of Ag HBe, hepatic cytolysis was always absent when DCH reactions were negative, and was seen only in the presence of a cellular immune reaction. These results suggest the interaction, in the hemodialysis patient, of virological factors related to Ag HBe and cell mediated immunological factors in the pathogenesis of hepatic lesions related to HBV.

Adult↗

Successive appearance of carcinoma, tuberculosis and nephrolithiasis in a renal allograft.

A small renal cell carcinoma was transplanted inadvertently with a kidney from a living donor and was treated with partial nephrectomy. Secondarily, tuberculosis of the renal allograft appeared, which was followed by nephrolithiasis. The kidney was left in place, immunosuppressive treatment was continued and renal function is normal more than 8 years after transplantation, with no sign of the cancer progressing or reactivation of the tuberculosis.

Adenocarcinoma↗

Activity of a new high efficiency diuretic in man: piretanide (HOE 118).

1 The pharmacological actions of piretanide, a new high efficiency diuretic, were studied in sixteen patients with GFR (inulin clearance) varying from 0.1--2.5 ml/s. 2 After hydration and following two control periods, a single dose of 6 mg piretanide was ingested. Thereafter, urine was collected every 30 min for 2 h and every hour for the next 4 h. Fluid losses were replaced. 3 The following measurements were made: urine flow rate, clearances of inulin, PAH, urea, creatinine, uric acid, osmolar and free water clearances, excretion rates of sodium, chloride, potassium, calcium, phosphate, bicarbonate, ammonium, titratable acidity and urine pH. 4 Main results showed piretanide was efficient in the group with normal GFR (inulin clearance greater than 1.5 ml/s) and in the group with slightly decreased GFR (1.0 less than inulin clearance less than 1.4 ml/s), in terms of diuresis, natriuresis, kaliuresis and calciuresis. It was inefficient in the group with severe renal insufficiency (inulin clearance less than 0.3 ml/s). 5 Free water clearance showed preservation of diluting ability to a large extent. 6 In the three groups, no significant change in inulin clearance and PAH clearance occurred.

Adult↗

Uric acid, monosodium urate and ammonium urate urinary relative saturations in normo-uricuric calcium oxalate stone formers.

Monosodium urate (NaU), ammonium urate (NH4U) and uric acid (UA) urinary relative saturations were studied in 15 normo-uricuric calcium oxalate (CaOx) recurrent stone formers whose CaOx relative saturation was identical to age- and sex-matched controls. NaU and NH4U relative saturations were constantly below 1 and not higher in stone formers than in controls, suggesting that heterogeneous nucleation is an unlikely mechanism of CaOx stone formation in vivo. Such values of NaU relative saturation would also tend to rule out any change in the CaOx formation product or urinary inhibitory activity. However, at a given urinary flow rate, NaU relative saturation was suggestively higher in stone formers than in controls. Some disturbance in the equilibrium between NaU and urinary inhibitors might then exist even in normo-uricuric CaOx stone formers.

Animals↗

[Complications with rifampicin treatment: one case with anuria (author's transl)].

The authors report a new case of acute renal insufficiency with Rifampicin. They evoke the clinical background which is characteristic of these anuric tubular nephritis. They recall the different complications with Rifampicin to which they can be associated and the different mechanisms which can be at the origin of this affection as well as the difficulties to reveal them. Then, they insist on the prevention of renal accidents within the frame of our present knowledge.

Acute Kidney Injury↗

[Fabry's disease: two patients improved by fetal liver cells (author's transl)].

The first patient reported was a 33 years old male with clinical manifestations of Fabry's disease. The diagnosis was confirmed by ophthalmologic, histological and enzymatic studies. Because of inefficacity of treatment with plasma transfusions and of symptomatic therapies, a transplant of cells with normal enzymatic activities was envisioned. In this patient without renal failure, a renal transplant was not justified and a transplant of fetal liver cells was decided. The improvement of extra-renal manifestations of the disease with this new treatment was comparable to that obtained with kidney transplantation. In particular, objective and subjective clinical symptoms were significantly improved: sweating appeared became normal, cutaneous lesions appeared slightly decreased and pains disappeared. This improvement was still persistent 3 years after the fetal liver transplant, the viability of which was initially followed using dosages of circulating alphafoetoprotein. The second case-report is comparable. Fabry's disease was diagnosed in a 26 years old male on the clinical manifestations, the histological lesions and the enzyme deficiency. After failure of one plasma transfusion, the patient received a fetal liver transplant. It is still too early to evaluate the efficacy of the transplant in this second case, especially as the patient had normal sweating and relatively few pains except at the cold season. The mechanism which may be held responsible for possible improvement in our patients, as in recipients of a kidney transplant, is not completely elucidated. The cells, rather than steroids or azathioprine, seemed to support the efficacy. Was the enzyme activity exerted in situ? Was there a "colonization" by lysosomial enzymes? From the results observed after several years will derive the significance of this therapeutic approach in Fabry's disease, more generally, in many diseases associated with a genetic enzyme deficiency.

Adult↗