Biomedical subjects
Publications and source records attributed to M Simon.
The physiological activity values of glucose-6-phosphate dehydrogenase (G-6-PD) from chorionic villi homogenized in Triton X was evaluated. The frozen, non-cultivated chorionic samples were obtained from artificial abortion in an early period of gestation (6-11 weeks). The mean G-6-PD activity was 0.43 U/mg protein. The G-6-PD enzyme activity showed no correlation with the week of gestation.
The bactericidal activities of teicoplanin and vancomycin, as single agents or combined with fosfomycin, fusidic acid or rifampicin, were investigated in an in vitro study involving 20 strains of Staphylococcus epidermidis isolated from infected vein catheters. Greater antibacterial effects were exhibited against certain bacterial strains by the combined antibiotics, rather than by teicoplanin or vancomycin alone. The vancomycin-fusidic acid combination showed less of a bactericidal effect than all other combinations. The strongest bactericidal effects on all strains were exhibited by the combinations of teicoplanin and vancomycin with rifampicin. These results may be important for the antibiotic treatment of staphylococcal infections of vein catheters, if immediate removal of an infected catheter is not possible.
Authors observed one or more early VZV relapses in 8 out of 98 Acyclovir treated immunocompromised children with varicella. None of the 8 children developed VZV antibodies by the end of the 5-day ACV treatment. All VZV relapses were successfully treated with ACV or Vidarabine, but were stopped only after the appearance of VZV antibodies in the patients' sera. The possible role of ACV treatment in pathogenesis of early VZV relapses could be excluded by comparing the VZV antibody production of patients treated with ACV from the first day of varicella on with the antibody response of those, who received ACV as late as on the 5th day of varicella. By prolonging the ACV treatment till the appearance of VZV antibodies, early relapses could be avoided.
A 13-year-old girl had a bird-like face, deficiency of the subcutaneous fatty tissue, dry, thin, transparent and wrinkled skin, especially on the hands and feet, prominent veins and telangiectasia and mottled hyper-pigmentation. X-ray studies revealed acro-osteolysis of the hands and feet. The clinical features corresponded well with Gottron-type acrogeria. The clinical symptoms of premature ageing syndromes, such as progeria, lipodystrophia totalis, Cockayne syndrome, metageria and acrogeria are summarized briefly and compared with the clinical picture observed in our patient.
In 15 patients suffering from oral lichen planus (OLP), we took biopsies of both involved and noninvolved oral mucosa. The specimens were immunohistochemically studied with regard to the expression of beta-2-microglobulin (beta 2-M). In contrast to noninvolved mucosa, we proved definite beta 2-M expression in keratinocytes from OLP lesions. Our findings agree with the assumption that an autoimmunological process is involved in the pathogenesis of OLP.
The authors report on 2 sisters who had suffered from both atopic eczema and hoarseness since their birth. Rough, yellowish-white papular deposits in the skin and the oral mucosa had developed during their childhood. The clinical diagnosis of hyalinosis cutis et mucosae was confirmed in both cases by means of histology and electron microscopy.
The results of three separate methods used to examine prepubertal girls are compared and a technique for measuring hymenal orifice diameters from colposcopic photographs is presented. A total of 172 girls who were examined by three techniques during their evaluation in a clinic for suspected child sexual abuse victims were studied. Their ages ranged from 10 months to 11 years with a mean of 5 years, 8 months. The examination techniques used were the supine position with labial separation, the supine position with labial traction, and the knee-chest position. The knee-chest position (98%) and the supine traction method (96%) proved to be superior to the supine separation technique (86%) in opening the vaginal introitus. The largest vertical transhymenal diameters were produced in the knee-chest position, whereas the greatest transverse horizontal spans were generated by the supine traction procedure. Other soft tissue changes were noted but not quantified. A multimethod approach to the examination of the sexually abused child is recommended to take advantage of the strengths of each technique.
33 patients suffering from postherpetic erythema multiforme (PEM) were investigated with special reference to histocompatibility typing. In comparison with a control group (n = 54), we found strikingly high levels of HLA-DR1 and HLA-DR4 as well as a significantly elevated level of HLA-Cw3 in our patients (p less than 0.01).
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This project was designed to collect normative data on the genital anatomy from a sample of nonabused prepubertal girls. A total of 114 girls between the ages of 10 months and 10 years were examined and photographed with a colposcope. After screening for the onset of puberty and the possibility of undetected abuse, 93 subjects remained. Examination techniques included a supine labial separation approach, a supine labial traction method, and a prone knee-chest position. Common genital finding included erythema of the vestibule (56%), periurethral bands (50.6%), labial adhesions (38.9%), lymphoid follicles on the fossa navicularis (33.7%), posterior fourchette midline avascular areas (25.6%), and urethral dilation with labial traction (14.9%). The hymenal orifice opened more frequently during the knee-chest (95.2%) and the labial traction (90.5%) methods than with the supine separation (79.3%) approach. Hymenal findings included mounds (33.8%), projections (33.3%), and "septal remnants"/midline hymenal tags (18.5%). Intravaginal findings of vaginal ridges (90.2%) and rugae (88.7%) were found primarily through the labial traction approach. The cervix was visualized without the use of speculum in 69% of the children during the knee-chest examination. Unusual findings included posterior fourchette friability (4.7%), anterior hymenal clefts (1.2%), and notches of the hymen (6%). One child had an imperforate hymen (1.2%) and 2 (2.5%) had hymenal septa. A vaginal discharge was detected in 2 (2.6%) and a foreign body in 1 (1.3%). Tables that include the vertical and horizontal hymenal orifice diameters by age group and by method are presented.
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Leukemic relapse following bone marrow transplant (BMT) is generally due to the recurrence in recipient cells, but may rarely occur as a result of donor cell transformation. Donor cell relapse is generally identified using cytogenetic markers such as the sex chromosomes. Recently, molecular techniques have been used to identify the origin of bone marrow cells by their DNA restriction fragment length polymorphisms. We describe the case of a male pediatric patient who had a leukemic relapse 30 months following BMT from his sister. Both cytogenetic and molecular techniques were used to identify the origin of the leukemic relapse. Cytogenetic analyses indicated the absence of the Y chromosome and the presence of a donor cell type 9qh polymorphism, suggesting a donor cell relapse. Molecular analyses also indicated the absence of the Y chromosome but demonstrated the recurrence of recipient DNA markers from three other chromosomes, suggesting a recipient cell relapse. While the leukemic cell lineage cannot be definitively assigned in this case, our results suggest that caution must be exercised when assigning leukemic cell lineage following post-BMT relapse.
OBJECTIVE: To determine the optimal duration of antithyroid drug treatment by monitoring serum thyroid stimulating antibody values in patients with Graves' disease. DESIGN: Prospective longitudinal trial of patients with Graves' disease followed up for 24 months after withdrawal of treatment. SETTING: Tertiary referral centre. PATIENTS: A total of 64 consecutive patients with untreated Graves' disease, eight of whom were subsequently excluded. Fifty six patients completed the study. INTERVENTIONS: All patients were treated initially with carbimazole 40 mg, then with decreasing doses that maintained a euthyroid state. Treatment was scheduled to continue for 18 months but was withdrawn earlier if serum thyroid stimulating antibody became undetectable. END POINT: Serum values of thyroid stimulating antibody (assayed by stimulation of human thyroid cells in vitro) and thyroid hormones and thyroid state every three months during treatment and afterwards every six months for 24 months. MEASUREMENTS AND MAIN RESULTS: In 44 patients serum thyroid stimulating antibody became undetectable during treatment and treatment was withdrawn (median duration of treatment nine months, range 3-18 months). In 12 patients the antibody could be detected during 18 months of treatment. Among the first group of 44 patients initial values of the antibody before treatment were significantly lower than in the second group of 12 patients (median 225% (range 138-1236%) v 570% (250-1480%), p less than 0.001); the incidence of relapse was also lower (41% v 92%, p less than 0.001); and among those who did relapse the disease free interval after treatment was longer (median 12 months v 1 month, p less than 0.001). Moreover, the initial median serum values of thyroid stimulating antibodies were not related to the occurrence of relapse or remission as these did not differ between patients who did and did not have a relapse (median 267% (range 139-1480%) v 220% (range 138-1236%). CONCLUSION: Monitoring of serum thyroid stimulating antibody was a good guide to the duration of treatment as it allowed the treatment period to be considerably shortened in a large group of patients with no loss of efficiency.
Proteins involved in mitochondrial splicing but encoded by nuclear genes have been characterized in Saccharomyces and Neurospora. The role in splicing of these proteins is largely unknown. Here we report that mutations in the nuclear gene MSS116 directly affect the splicing of several introns of the cytochrome b (cob) and cytochrome c oxidase subunit I (cox1) primary transcripts. This implies that the MSS116 protein (pMSS116) is an important component of the mitochondrial splicing machinery. The sequence of the cloned MSS116 gene shows that its protein product is homologous to the translation eIF-4A factor and the human nuclear protein p68. We show further that these proteins share several conserved amino-acid blocks with DNA helicases and related proteins. This suggests that pMSS116 has an RNA helicase activity. RNA helicases may be involved in many different processes including translation and splicing.
Recognizing the similarity of type I diabetes mellitus to inborn errors of metabolism that have responded to carnitine therapy, we initiated a study of 54 children with type I diabetes mellitus. Examining a fasting blood sample for levels of carnitine, glucose, and glycosylated hemoglobin A1c, and a urine sample for levels of ketones and glucose, we found 13 children were deficient of free carnitine (less than 20 mumol/L) and 30 had elevated acyl carnitine levels (greater than 11 mumol/L). Statistical tests confirmed a significant difference between the diabetic population and normal population for reduced free carnitine, elevated acyl carnitine, and an elevated ratio of acyl carnitine to free carnitine. Also, a significant correlation was found between the levels of urine glucose and ketones and the level of acyl carnitine. Our data indicate that carnitine deficiency and relative insufficiency may be an overlooked component in the management of diabetes.
Six laboratory measures of iron metabolism were studied in a control sample, and a family sample was ascertained on the basis of probands with clinically diagnosed genetic hemochromatosis. The respective distribution of each variable evidenced a mixture of components, presumably arising from the segregation of an HLA-linked locus for hemochromatosis. There were significant differences in the distributional characteristics with respect to sex and genotype-specific variances. These aspects of the data have important implications for subsequent segregation and linkage analyses, which traditionally assume homoscedasticity and homogeneity of the genetic effect.