[Acrodermatitis enteropathica].
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Biomedical subjects
Publications and source records attributed to K Heilmann.
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Primary bilateral malignant lymphoma of the breast was diagnosed in these women. All were of the lymphoblastic type of high malignancy. Two patients were pregnant and all died of generalised malignant lymphoma. Survival time between initial or early manifestation in the breast and death was two to four months.
According to the Laurén classification 357 carcinomas of the stomach were reclassified into intestinal and diffuse types. 58.2% were assigned to the intestinal type, 37.5% to the diffuse and 4% to a "mixed" group. There is obvious correlation between the intestinal type, the patients' advancing age and the incidence of chronic, atrophising gastritis with intestinal metaplasia. The diffuse type on the other hand occurs irrespective of gastric changes - mostly in younger persons. The intestinal type of gastric carcinoma frequently is found in risk areas where incidence is "epidemic" in nature; morphology and genetic origin seem to be gastric mucosa changes and intestinal metaplasia or dysplasia. Classifying gastric carcinoma according to Laurén (two groups) is also an appropriate method in our regions as was confirmed by the results we obtained; it is superior to the much more differentiated macro- and microscopic classifications used so far. Because of its simplicity, it is better suited for epidemiological and pathogenetic studies of the gastric carcinoma.
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The basic defect in acrodermatitis enteropathica (A.E.) is zinc deficiency caused by zinc malabsorption. The clinical symptoms disappear and serum zinc levels normalize after oral treatment with zinc. A report is given on two siblings suffering from A.E., both treated with oxyquinolines for a long period with changing clinical success. A permanent clinical remission could be achieved by treatment with zinc-sulphate at doses of 110-220 mg daily. The serum zinc levels normalized. The correlation between the zinc concentration of the hair and the kind of therapy was not very close. As we have shown in our first communication, the Paneth cells of the intestinal mucosa display ultrastructural changes in form of an unhomogeneous structure of the cytoplasm, formation of giant granules, and inclusion bodies. The zinc-therapy led to a complete normalization of the pathological changes in the Paneth cells. Thus, the changes in the Paneth cells in A.E. are the result and not the cause of zinc deficiency.
In the scope of a clinical-experimental study on 12 patients with chronic open-angle glaucoma we proved that a reduction in the individual doses of Acetazolamide (Diamox) brought no reduction in the effect on raised intraocular pressure when the frequency of application was the same. Daily doses of 3 X 125 mg were compared with those of 3-250 mg and 2 X 500 mg (Retardform). A additional trial on 6 patients with a daily dose of 3 X 62.5 mg also showed an obvious effect. The possibilities of long term treatment with acetazolamide are discussed.
The fourth communication on the Ocular Therapeutic System Ocusert (Alza Corp., Palo Alto/Calif.; Federal Republic of Germany: Chemie Grünenthal, Stolberg) deals with experiences of a 24 months follow-up study as well as with the results of an omission test. From the diurnal curves carried out over 24 months, and the regression curves the conclusion can be drawn that the continuous application of pilocarpine has not led either to clinically recognisable changes in morphological structures or to a noticeable decreasing sensitivity to the drug so far. The omission test performed with placebo units shows the effect of intraocular pressure reduction remains reversible.
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Acrodermatitis enteropathica (AE) was diagnosed in 2 siblings, boy and girl, at the age of 10 and 6 weeks. The family history is unremarkable except for consanguinity 5 generations previously. The clinical symptoms of the 2 patients conformed to the known features of AE, the gastrointestinal involvement loosing its significance with increasing age. In one patient in a stage of exacerbation the serum level of oleic acid (18:1) was lowered and of linoleic (18:2) acid slightly increased while that of arachidonic acid was decreased (Fig. 4). In both patients the serum zinc levels were significantly lowered. Under substitution with ZnSO4 the clinical condition improved and the serum zinc levels returned to normal. Histologically the small bowel mucosa was practically normal. Ultrastructural examination of jejunal biopsies revealed rather unspecific changes in the enterocytes in the form of numerous multivesicular bodies. The Paneth cells sometimes contained irregularly formed inhomogeneous structures within their cytoplasm. In addition the secretory granules varied in size and displayed a granular heteromorphic matrix. Frequently they were confluent and formed giant granules.
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Severe combined X-linked immune deficiency ended fatally in a six-month-old male infant after generalized BCG infection. Damage in the cell-bound thymus-dependent immune system is decisive in the development of "BCG histiocytosis". As a result of absent immunocompetent sensitized T-lymphocytes there is insufficient information and stimulation of macrophages to kill the micro-organsims. The disorder of bactericidal properties of macrophages results in an overwhelming infection with BCG bacteria with a characteristic morphological picture.
A hitherto undescribed cardiac malformation, characterized by persistence of the primitive aortic conus and normal positioning of the great vessels, is reported and used to discuss the theory of bulbar resorption and the hypothesis of conal growth. The persistence of the primitive aortic conus is explained by the absence of bulbar contraction. The present selective inhibition of bulbar involution in normal positioning of the great vessels shows it to be a phenomenon formally independent of the transposition. Thus, the concept explaining the formal genesis of transposition is explained by arrest of torsion of the bulbar truncus is reconfirmed.
Circumscribed lipoid deposition in the gastric mucosa ("lipid island") can macroscopically be mistaken for "early cancer" of the stomach. The aetiology of the lipid islands is not quite clear. Precise diagnosis is possible only with selective biopsy and special staining. Such lipid islands were found in five patients among 1 200 gastrocopies.
Histological, histochemical and ultrastructural studies were done on soft tissue surrounding alloarthroplastic joints. In 38 cases a prosthesis of the hip joint and in 2 cases of the knee had to be exchanged and replaced. In most of the cases the reoperation became necessary because the anchoring of the prosthetic parts in the bone loosened. Up to 18 months after the first operation infection was responsible for the malfunctioning in some cases. Other complications were luxation and material faults. The morphological changes are determined by the tissue reaction to the different alloplastic materials used and by the time interval they remained in the organism. The large polymerized acrylic cement particles are phagozytosed by multinucleated foreign body giant cells. About 12 months following the implantation of the artificial joints small double refractile particles appear and evoke characteristic morphological changes. The particles are abraded by the continuous friction of the moving alloplastic or metallic surfaces of the prostheses. Usually they are phagozytosed by histiocytes, which form large granulomas and undergo degenerative changes as is indicated by the ultrastructural and histochemical findings. These alterations are more pronounced and occur sooner in prosthesis with parts (rotation ball or cup.) fabricated by polyester than in those made by polyethylene. The abraded particles not only are transported to the inguinal lymphnodes, but also to the tissue between prostheses and bone, where they induce the same morphological changes as in the capsule. Hence the fibrous membrane separating bone and prostheses increases in width, and the spongy bone is partially destroyed by the proliferating histiocytes. It is assumed that by impairing the anchoring this foreign body reaction to the abraded alloplastic particles is the leading cause of the loosening of this kind of artificial joints.
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Definition and classification of glaucomas. Indication of drugs contraindicated in glaucomas. Discussion of the problem of tonometry in anaesthesia in congenital glaucoma suspicion with special regard to factors influencing intraocular pressure. Discussion of correlation between intraocular pressure and systemic blood pressure. Report on own experiences with Ketamine and discussion of advantage and disadvantage of the drug for tonometry in anaesthesia in infants. Explanation of the method of impression--and applanation tonometry with regard to Glaucotest, a new borderline--tonometer suitable for the anaesthesiologist.
The third communication on the drug delivery system Ocusert (Alza Corporation, Palo Alto; Federal Republic of Germany: Chemic Grümenthal) deals with experiences of a 15 month follow-up study. Again we found that the system provides effective around-the-clock control for at least 7 days. During 15 months the system was effective in all patients. In comparison to pilocarpine-eyedrops the Ocusert-system has the following advantages: less pilocarpine-induced myopia and miosis, myopia and miosis extremely constant, minimal local side effects, reduced amount of drug release, almost no therapeutic discomfort for the patient, isolating the patient from the disease and good controlpossibility of the success of the treatment. The problems of a permanent drug release are discussed.