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Biomedical subjects

D Simon

Publications and source records attributed to D Simon.

At least 19 recordsLinked to original sources

Homologous chromosomal locations of the four genes for inter-alpha-inhibitor and pre-alpha-inhibitor family in human and mouse: assignment of the ancestral gene for the lipocalin superfamily.

The inter-alpha-inhibitor (I alpha I) and pre-alpha-inhibitor (P alpha I) family is composed of three plasma protease inhibitors, I alpha I, P alpha I, and bikunin, whose chains are encoded by a set of three evolutionarily related heavy (H) chain genes designated H1, H2, and H3 and a fourth gene, the so-called alpha 1-microglobulin/bikunin precursor (AMBP) gene. The latter codes for a precursor that splits into: (i) alpha 1-microglobulin, which belongs to the lipocalin superfamily; and (ii) bikunin, which is made up of two tandemly arranged protease inhibitor domains and belongs to the superfamily of Kunitz-type protease inhibitors. The bikunin chain is found in I alpha I and P alpha I molecules and it is also present as a free molecule in plasma. In human, the AMBP and H2 genes have been mapped to 9q32-q34 and 10p14-p15, respectively, while the H1 and H3 genes are tandemly located at 3p21.1-p21.2. In situ hybridization mappings indicate that the mouse AMBP gene (Intin-4) is located at 4C1----C4, and the H1 (Intin-1) and H3 (Intin-3) genes are colocated at 14A2----C1. In interspecific backcrosses (C57BL/6Pas x Mus spretus) a TaqI restriction variant in (and/or near) the H2 (Intin-2) gene identified a linkage of this gene with other polymorphic loci, which assigns Intin-2 to the centromeric area of chromosome 2. All such assignments are in conserved chromosomal regions between human and mouse. Therefore the genetic events that gave rise to the four I alpha I family genes took place prior to the divergence between human and mouse.(ABSTRACT TRUNCATED AT 250 WORDS)

Alpha-Globulins

Incidental finding of rectal carcinoma during transrectal US for prostatic diseases.

During transrectal ultrasound (TRUS), rectal carcinoma was an incidental finding in seven patients among a series of 5,000 TRUS examinations. TRUS was performed in seven patients with symptoms characteristic of prostatic diseases. All seven patients underwent examination by at least one physician before TRUS and, except for abnormal prostatic findings, no tumors were detected during digital rectal examination (DRE). The tumors were clearly visualized with TRUS and were easily palpated during DREs performed after TRUS. They were large and were located mainly along the posterior and lateral walls of the rectum. All the tumors were diagnosed by means of proctoscopy; the biopsy findings were positive, and the pathologic staging indicated advanced disease: adenocarcinoma of the rectum with a minimum grade of Dukes C. It is recommended that, in addition to evaluation of scans obtained in the transverse plane, the multiplane transducer be used to evaluate the longitudinal plane of the rectum for detection of possible undiscovered tumors.

Adenocarcinoma

[Surgical treatment of carcinoid tumors of the intestine].

Carcinoid tumours arise from the neuroendocrine system and present a characteristic morphological picture. They occur in almost every organ, predilected sites are the appendix and the small intestine. Prognosis depends on the primary localization and tumour size. Carcinoids of the appendix and rectum are mostly small and thus have a good prognosis. Growth of bronchial, stomach and small intestinal carcinoids is aggressive and implicates a high percentage of metastatic disease. First choice therapy is the surgical removal of the tumour. Depending on tumour size surgical treatment includes fulguration, local excision and oncologic radical resection up to extended organ extirpation. Reoperation and repeated surgery have good chances to be successful concerning tumour remission and improvement of the carcinoid syndrome. Additive treatment comprises in particular somatostatin therapy and, in some cases, chemotherapy.

Appendiceal Neoplasms

[Discrepancies between TRH test and classical dynamic thyroid tests results in hyperthyroidism. 47 cases (author's transl)].

We have investigated the frequency of discordant results between the TRH test and classic dynamic tests of thyroid function (thyroid suppression and TSH stimulation tests) for patients presenting a diagnostic problem for hyperthyroidism. 12 patients in group I posed the problem of having a relapse of Graves' disease previously treated: a discrepancy between TRH and T3 suppression test results was observed in 17% of the cases. 10 patients in group II demonstrated the ophtalmopathy of Graves' disease without hyperthyroidism: discordance between tests results in this group was present for 20%. Finally, 25 patients in group III had a "hot" thyroid nodul apparent at thyroid scan: in 40% of the cases, the response to TRH did not lead to the same diagnosis that was suggested by the classical dynamic tests of thyroid regulation. The discrepancies observed in this work, between the results of the TRH test and those of classic dynamic tests, demonstrate that this two types of tests are not completely interchangeable, because they do not reflect exactly the same function.

Adult

[Parotidomegaly in psychiatric dysorexia. 10 cases (author's transl)].

Had markedly anarchic dietary behaviour with alternating anorexia and bulimia, or even self-induced vomiting. These disturbances in dietary behaviour fall within the context of an unusual neurotic syndrome, predominantly hysterical. There were also menstrual problems, most often amenorrhoea. The physiopathological relations between these symptoms and signs may be envisaged as follows: the initial psychological problems explain the dysorexia; the menstrual difficulties are related at one and the same time to the psychological problems and the dysorexia; the latter is responsible for the parotidomegaly and for disturbances in carbohydrate and lipid metabolism.

Amenorrhea

Treatment of Cushing's disease by O,p'DDD. Survey of 62 cases.

In a study of nonsurgical therapy of Cushing's disease, 62 patients received O,p'-dichlorodiphenyldichloroethane (O,p'DDD), 16 of whom also received cobalt irradiation of the pituitary. After an initial treatment period averaging eight months, a remission of the disease was obtained in 38 of the 46 patients given O,p'DDD alone and in all patients who received drug combined with radiation. Although 60 per cent of these patients subsequently relapsed, additional courses of drug or radiation therapy were usually effective, and 63 per cent of the entire group of patients have so far been kept under control without adrenalectomy. (Forty patients have been followed for at least two years after the initial course of treatment.). O,p'DDD produced little gastrointestinal discomfort; an increased serum cholesterol was the main side effect. This drug allows long-term medical management of Cushings disease in most cases. Whether the combination of O'p'DDD with pituitary radiation is the best therapy has not been established.

17-Hydroxycorticosteroids

[Axial osteosclerosis with autosomal dominant transmission: a new entity?].

The authors report on the case of a 26-year-old woman and three members of her family suffering from a benign condensing osteopathy, of dominant autosomic transmission, characterized mainly by a non homogenous hyperopacity of the spine and the pelvis, without alcaline hyperphosphatasemia, and which seems to them different from the condensing ostepathies described up to now.

Adult

American Burkitt's lymphoma-hand-mirror variant. A detailed investigation of cytologic, ultrastructural, and immunologic features.

Previous studies of patients with lymphoid malignancies have suggested a relationship between survival and the presence of more than 40% hard-mirror cells in the bone marrow. This report represents the first detailed study of a patient with American Burkitt's lymphoma with numerous hand-mirror cells in the bone marrow during the course of the disease. The Burkitt cells were atypical because of their hand-mirror configuration in the bone marrow, the presence of cytoplasmic glycogen, the finding of an IgG surface marker, and a strongly positive acid phosphatase staining reaction. The presence of increased numbers of hand-mirror forms in the bone marrow during the course of the patient's illness may have clinical significance, because they were replaced by non-hand-mirror Burkitt cells in the terminal phase. More reports and investigations of patients with large numbers of hand-mirror forms in the bone marrow are needed to elucidate the full significance of this unusual cellular phenomenon.

Adult

DNA-methylase from regenerating rat liver: purification and characterisation.

DNA methylase has been purified 660-fold from nuclei from regenerating rat liver. The enzyme is able to methylate single stranded (ss) and double stranded (ds) DNA, the only reaction product being 5-methylcytosine. Previously unmethylated double stranded DNA from prokaryotes (M.luteus) as well as from eukaryotes (Ascaris suis) can serve as substrates. The synthetic copolymers (dG-dC)n . (dC-dG)n and (dG,dC)n are also methylated. While SV40 DNA is almost not methylated, PM2 DNA is a good substrate even in the supercoiled form. The enzyme methylates 1 in 17 bases in heterologous M.luteus DNA, but only 1 in 590 in homologous rat liver DNA. The high methylation level of M.luteus DNA, an analysis of the methylated pyrimidine isostichs and a preliminary dinucleotide analysis suggest that all the CpGs in a DNA can be methylated.

Animals

Retrocaval ureter.

3 cases of retrocaval ureter (one of them presenting multiple urological anomalies) are discussed. In the presence of hydronephrosis, early operative reposition of the ureter is essential. Provided that the condition is diagnosed before extreme renal deterioration, the surgical repair can salvage remaining renal function.

Adult