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Biomedical subjects

W Hammerstein

Publications and source records attributed to W Hammerstein.

At least 19 recordsLinked to original sources
PubMed1993

[Refsum syndrome in a pair of monozygotic twins].

We report the case of a pair of twins with the ophthalmological and functional findings of Refsum syndrome. The twins were monozygotic twin brothers whose ophthalmological symptoms were noticed when they were in their forties. The diagnosis in the first brother led to a search for findings in the second. It was possible to attribute the non-specific subjective complaints to this as yet unknown syndrome. No causal therapy can be offered the patients. However, knowledge of the biochemical basis of the disease makes it possible to treat it by means of diet. In patients with retinopathia pigmentosa, an attempt should be made to identify Refsum syndrome if neurological symptoms are found in addition.

Adult↗
PubMed1992

[Schöpf syndrome. Clinical, genetic and lipid biochemical studies].

Schöpf syndrome is an unusual genodermatosis categorized within the heterogeneous group of ectodermal dysplasias. Since the first description of this syndrome in 1971, ten further cases have been published. The diagnostic features include eyelid cysts, hypotrichosis, hypodontia, nail dystrophy, and keratosis of palms and soles. When the signs and symptoms noted in all published cases are taken together, considerable clinical variability in the combinations and in the age of onset is observed. The frequent occurrence of benign and malignant tumours of the palms and soles deserves particular attention. Schöpf syndrome is probably not as rare as is commonly believed. A woman with typical clinical features of this syndrome is presented. Schöpf syndrome is assumed to be passed on as an autosomal recessive trait; however the present and two further case reports are not compatible with this mode of inheritance, because family members in several generations are affected. Schöpf syndrome is probably a heterogeneous disorder. Lipid biochemical investigations of stratum corneum by high-performance thin-layer chromatography (HPTLC) show a decrease in the ceramide fraction and an increase in free fatty acids as a percentage of total lipids. The pathophysiological significance of these findings needs further investigation.

Adult↗
PubMed1991

[Pathophysiology and prevention of retinopathy of prematurity].

In premature infants there is a temporal and causal relation between the change in the erythropoiesis after birth and the manifestation of retinopathy. The physiological substitution of the fetal erythrocytes can be controlled by an analysis of the fetal hemoglobin. In premature infants in which the erythropoiesis has not yet been converted there is an interval of time where there is a chronic hypoxemia of the retina and in which neovascularisation occurs. The oxygen deficit arises because fetal blood - in comparison with adult blood - exhibits a higher affinity to oxygen. If high values of HbF are ascertained in premature infants the chronic hypoxemia of the retina can be avoided by replacing the erythrocytes. In this way, a secondary prevention of the illness is possible.

Birth Weight↗
PubMed1991

[Retinal degeneration and embryonal rhabdomyosarcoma of the thorax].

We discuss a paraneoplastic retinopathy in a 6-year-old boy who had an embryonal rhabdomyosarcoma of the thorax. Opacities of the vitreous body, optical atrophy, contracted arteries and changes in the structure of the retina--especially the retinal pigment epithelium--characterized the ophthalmological findings. The asymmetrical localization of the changes makes the differential diagnosis of hereditary retinal dystrophies easier. It is probably an immunological disease caused by an antigenic antibody reaction.

Child↗
PubMed1990

The ophthalmic rod--a new drug-delivery system II.

The ophthalmic rod (OR) is a new ophthalmic drug-delivery system. The rod is made of nontoxic plastic. The active substance is deposited as a thin film on the end of the rod. To deliver the drug, the tip of the rod is introduced into the conjunctival sac and rubbed against the palpebral conjunctiva of the lower lid. The OR is a single-dose sterile applicator. By using the OR the problems of preservation and sterility of eyedrops are eliminated, and the risk of cross-infection is avoided. This was an open uncontrolled study. Clonidine ORs were used by 15 patients with glaucoma for 12 days. Fluorescein ORs were used for tonometry and to check the safetness of using the ORs. Patients with dry eyes or scotoma were excluded from the study. The clonidine film remaining on the ORs after delivery was quantitatively analyzed. A dose of 20 micrograms clonidine rod, three ORs/day, was sufficient to keep the ocular pressure under control. The fluorescin ORs, 30 micrograms/rod, were satisfactory for coloring the cornea. On the last day (12th) no clinically apparent side effects were observed. Subjectively, the patients were satisfied with the OR method of application, as an alternative to eyedrops.

Adult↗
PubMed1990

[Retinitis pigmentosa and sensory atactic polyneuropathy with reduction of apolipoprotein B].

In this paper we discuss a female patient with retinitis pigmentosa. Pronounced pigmentation in the periphery, together with yellow waxlike optical atrophy and contracted arteries, characterized the ophthalmological findings. The ERG was extinguished. The neurological examination revealed preponderantly atactical polyneuropathy accompanied by primary axonal degeneration. Chemical laboratory values indicated a reduction in apolipoprotein B in the patient and in her children as well, who showed no clinical symptoms.

Adult↗
PubMed1989

Variation in retinal changes and muscle pathology in mitochondriopathies.

A variety of retinal changes that have so far not been classified under mitochondriopathies can now be included in this group, since muscle biopsy has identified ragged-red fibers with pathological mitochondriae. The ophthalmological findings in our relatively large group of 12 patients with mitochondrial myopathies are compared with the spectrum of myopathic findings. No obvious correlation exists between the severity of the pathological retinal changes and the characteristic of the myopathic alterations. In addition to fine pigmentation and depigmentation, severe dystrophic changes of the retina, pigment epithelium, and the choroid were observed. In two patients with severe chorioretinal dystrophy the correlation with generalized mitochondriopathy was not suspected prior to muscle biopsy.

Adolescent↗
PubMed1987

[Retinal dystrophy with Coats syndrome].

The combination of retinopathia pigmentosa and Coats syndrome is described. The clinical picture shows spotty pigmentations, retinal neovascularizations, peripheral exudative retinal detachment, defects of the retinal pigment epithelium, and changes in the macula.

Adult↗
PubMed1986

Choroideremia-locus maps between DXS3 and DXS11 on Xq.

Choroideremia is a progressive tapetochoroidal dystrophy with X-linked transmission leading frequently to blindness in affected males. The choroideremia-locus (TCD) has recently been assigned to the long arm of the X chromosome by linkage to polymorphic DNA markers. In order to further define the location of the gene defect, two families segregating for choroideremia were examined for DNA restriction fragment length polymorphisms. A search was undertaken for linkage with cloned DNA probes from the proximal short and long arm as well as from the mid-portion of the long arm of the X chromosome. Our data suggest that the most plausible gene order on the Xq is: Xcen-DXYS1-DXS3-TCD-DXS11-Xqter.

Choroid↗
PubMed1986

[Heart involvement in progressive external ophthalmoplegia (Kearns-Sayre syndrome): electrophysiologic, hemodynamic and morphologic findings].

The Kearns-Sayre syndrome is combined with a progressive external ophthalmoplegia (PEO), retinal pigmentary degeneration and heart block. In some patients, progression of incomplete forms has been described and potentially fatal conduction disturbances may occur. The disease is considered as a systemic mitochondrial disorder. As part of an ongoing prospective study 6 patients (3 female, 3 male; age 32 +/- 9 years) with PEO and typical ultrastructural changes of a mitochondrial myopathy in their skeletal muscle were examined. The ECG disclosed atrio/intraventricular conduction defects in 5 patients: 1 patient had a third degree AV block which was treated by a pacemaker. Another patient had left anterior fascicular block with complete right bundle branch block. In 3 other patients an incomplete right bundle branch block was registered. In 1 patient, His-bundle electrography disclosed a block distal to His by atrial high rate pacing before and after i.v. injection of ajmaline; prophylactically a pacemaker was implanted. The mean HV-interval increased significantly under ajmaline by 44% in patients with sinus rhythm. Hemodynamic studies were normal in 5 patients at rest; only 1 patient was abnormal during exercise. Myocardial biopsy demonstrated mitochondrial abnormalities such as variability in shape and size. In 4 patients concentric cristae mitochondriales were seen. Our results suggest that atrioventricular conduction defects are common in patients with PEO. By means of endomyocardial catheterbiopsy a mitochondrial cardiomyopathy could be detected.

Adolescent↗
PubMed1983

[Examinations of color vision in the differentiation of retinopathia pigmentosa].

Quantitative analyses of color vision using the Farns-worth-Munsell 100-hue test confirm that the mode of inheritance is important for the prognosis of retinopathia pigmentosa. Cases involving the autosomal dominant mode of inheritance are characterized by slight functional losses whereas patients with the autosomal-recessive or the X-chromosomal-recessive mode of inheritance show pronounced defects in the photopic system. With time the degeneration affects the blue, the green and finally the red areas of the color spectrum.

Adolescent↗