Deletion in one allele and a rare neutral DNA alteration in the other allele of the RB1 gene in a patient with bilateral retinoblastoma.
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Biomedical subjects
Publications and source records attributed to B Brandt.
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On account of improved management in neonatal intensive care units, the survival rate is presently nearly 50% in babies with birth weights below 1,000 grams and 80% in the group with birth weights from 1,000 to 1,500 grams. A number of these babies require surgery, either for correction of congenital anomalies or for acquired necrotizing enterocolitis, which is an increasing burden in neonatal units. The present analysis of 24 babies weighing under 1,500 grams, operated on in the period 1981 to 1988 confirms that even extremely small babies tolerate the performed anesthesia and surgery well. In the group with anomalies (7 of 24) three died (43%). The causes of death do not appear to be related to the anesthesia or surgery. In the group with necrotizing enterocolitis (15 of 24) six died (40%). The cause of death was directly related to the septic condition in all cases, and the surgical trauma does not appear to have any negative influence. Unfavourable prognostic factors in this group were low Apgar scores within the first minute and preoperative weight loss.
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Fifteen men with a recent attack of acute epididymitis were examined urodynamically and endoscopically after the symptoms had resolved. Thirteen of the 15 patients had abnormal voiding. Two patients had stricture formation in the posterior urethra, one had benign prostatic hyperplasia, one had bladder neck sclerosis, and 4 had detrusor-external sphincter dyssynergia. Three patients including the one with prostatic enlargement presented abdominal straining exceeding 50 cm H2O during micturition. The cause of an obstructive voiding pattern could not be established in 3 patients. The results support the theory of urethrovasal reflux due to a high hydrostatic pressure at the collicular level as a pathophysiological factor in acute epididymitis.
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Mycological cultures in the laboratory are threatened by storage mites who feed on fungi and cause contamination by transferring bacteria and fungi from culture to culture. To eliminate mites from fungal cultures without damage to the fungi themselves several chemical and physical procedures were tested. The following substances were added to Sabouraud glucose (2%) agar at concentrations of 0.1 and 1.0%: gamma benzene hexachloride (lindane), N-ethyl-o-crotonyltoluide, pyrethrins, dieldrin N,N-diethyl-m-toluamide, benzyl benzoate, and--as popular household remedies--Eau de Cologne, neutral soap and garlic. The media were inoculated with 4 dermatophytes (T. rubrum, T. mentagrophytes, M. gypseum and E. floccosum). Two to three weeks later the fully grown cultures were contaminated with mites and their eggs. In other test series, mite infested cultures were exposed to heat (40 degrees C and 60 degrees C) or cold from -12 degrees C to -28 degrees C over different periods of time. Finally, the protective value of sealing culture dishes with adhesive tape was investigated. The most useful method to control mite infestation in fungal cultures seemed to be exposure to heat over a short time.
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Young-Dees' method of bladder neck reconstruction is described. A material of 17 cases with complete or almost complete incontinence on account on a deficient sphincter who were submitted to this operative method is presented. It is concluded that the method can be recommended as the primary operation for incontinence, particularly in patients with exstrophy of the bladder or epispadias as satisfactory continence could be obtained in 60%. No deterioration of renal function was observed and the patients functioned well both socially and sexually.
In thirty patients bilateral orchiopexy was performed in puberty. At the operation twenty-five patients underwent bilateral testicular biopsies, and five patients underwent unilateral biopsies only. In adulthood the semen was analysed for antisperm antibodies by the direct mixed antiglobulin reaction (MAR) IgG test. In none of the cases a positive direct MAR IgG test was found.
Using a previously developed method for quantitative measurements of silicone concentrations in breast tissue, material from 86 biopsies from 67 breasts in 55 patients who had silicone implants was examined. In the 49 breast with unruptured prostheses, there was a positive relation between the concentrations and inflammatory reactions, the only exception being the amount of plasma cells, which showed a negative relation. It is concluded that silicone prostheses provoke an inflammatory response not only because they act as foreign bodies, but also because of silicone seepage through intact membranes.
The incidence, symptoms, clinical and paraclinical findings, and complications of appendicitis during pregnancy is reviewed. The symptoms and signs do not differ from those in non-pregnant women with the disease. Uterine contractions may occur. The pregnancy ought not to divert the clinicians attention from the disease which is complicated by a considerable foetal mortality, premature labour and abortion. These complications are especially connected with perforated appendicitis. The perforation frequency is related to the delay prior to operation. Immediate appendectomy is recommended as soon as the disease is suspected, making use of prophylactic tocolytic therapy. Antibiotics should be administered according to the usual recommendations. Abdominal delivery should be reserved for obstetric indications only.
The number of urologists in need of training is increasing whereas the number of resections of the prostate is falling. Patients are less and less willing to have their procedure serve for young residents to learn the technique of endoscopic resection of the prostate. Despite teachings and videoendoscopy, this procedure remains difficult to learn. We decided to develop a simulator for endoscopic resection after having seen the remarkable model of endoscopic simulation developed by French gastroenterologists and presented at the computer science workshop of the AFU symposium. The hypercard program, the laservision disk, and the CD ROM project were elected as a good introduction to this challenging although not unsurmountable problem. We had to adequate our goals to the resources of French urologists: the Macintosh II is the most sophisticated affordable computer. Computerization of the televised images of the endoscopic procedure and formalization of the gestures of the operator are required. Conventional image synthesis programs for use with the Mac II are either very slow or very limited. Conventional simulation programs are highly mathematical. Computerized images take up considerable memory space and large capacity disks or optical disks are required. The urologic laservision to which we contributed in 1986 contains few endoscopic images of the prostate but served as a basis for devising a methodology. Object programming with hypercard and animated image programs for Macintosh computers will be the starting points for our project that will benefit from the significant advances announced by Apple concerning color image file maintenance.
The complexity of the mode of operation of the bladder and urinary sphincter has led to the development of a number of temporospatial physiologic models that divide the process of micturition into several stages in order to facilitate investigations. Ten years ago, the authors described a two-stage continence-micturition model intended to improve the accuracy of studies of urodynamic disorders and thus contribute to the development of more effective and more rational therapeutic solutions. A large number of diseases can affect the distal urinary tract and recent advances in neurophysiology [10] have made the selection of the appropriate therapy extremely complex. Consequently, the authors have developed a decision analysis system that simultaneously confronts diseases, urodynamic manifestations, risks for the patient, and the main therapeutic approaches available. In 1985, they increased the number of stages in their continence-micturition model from two the four. This four-stage model has provided satisfactory result when used with an abacus for modeling observed biologic phenomena. In addition to offering simulation exercises for teaching purposes, this abacus provides the means for studying the instantaneous urodynamic situation (correspondences between cycle time points, symptoms, and effects of treatments) and determining the effect of various medicosocial events on the course of the bladder and sphincter dysfunction. The authors hope this abacus will be an attractive aide to the understanding of the complex function of the distal urinary tract.
A brief review of the use of silicone breast implants, their structure, methods of implantation and complications is presented. Acute complications are rare, being mainly infection and hematoma. Long-term complications, on the contrary, are common, consisting mainly of capsular contracture around the prosthesis with subsequent pain and deformation of the breast. More rarely silicone granulomas form, and prosthesis rupture or herniation occurs. The importance of silicone leakage for these complications is discussed separately as well as the treatment of and prevention of capsular contracture and demonstration of silicone in tissue. A critical attitude towards the use of silicone breast implants, when these are used for purely cosmetic purposes, is recommended at present. New improved types of silicone breast implants are currently being tested clinically.
In a material of 25 patients with gastro-oesophageal reflux (GER), 11 had cerebral damage, 15 had symptoms of oesophagitis and 18 had respiratory problems including here six cases of apnoea with cyanosis and bradycardia resembling near-miss sudden infant death syndrome (SIDS). Only two of the children recovered acceptably on conservative treatment and the remainder were submitted to operation. Operation had insufficient effect in 30%. Cerebral damage or atresia of the oesophagus were present in all of the patients in whom operation was without effect. All children with symptom-producing GER should first be submitted to conservative treatment for at least three months and operation should be offered in cases where this treatment fails. Children with chronic or recurrent respiratory symptoms without other explanation and all children with episodes of apnoea and near-miss SIDS should be examined for the presence of GER.
A propos de 90 cases of excretory infertility the authors expose their concept of obstruction of the seminal ways. They detail the echographic patterns of 5 selected observations and they insist upon the interest of the echographic test of dynamic voiding of the seminal vesicles and upon the value of a complementary test (provoked voiding of the seminal vesicles).
The authors have been using the WHO-TNM 1977 classified, modified in 1982, for prostatic cancer for more than ten years. This classification has been considered to be insufficient to allow precise choice of therapeutic determinants and to accurately evaluate the results of treatments. A new WHO TNM 88 classification has been recently published and has raised many controversies in the urological literature which complicates the development of this classification. The authors have developed a value added system of TNM scoring using the Excel programme on a personal computer, which tries to integrate the various classifications 78-82-88. Very precise rules must be determined for information collection, the most reproducible medical indicators must be selected and they must be made as objective and as pertinent as possible. The rules of the WHO classification must then be formalized and introduced into the expert system as rules of production. The system allows optimal transcription of the scores from one classification to another, depending on the political orientations of the necessity of translation. Lastly, the system calculates, in real time, the actuarial survival and/or Kaplan-Meier curves for all of the events identified by an indicator for the patient files entered into the system.