Search PubMed⌕ Search

Biomedical subjects

J Lössner

Publications and source records attributed to J Lössner.

At least 37 records · Page 2Linked to original sources
PubMed1984

[Detection, genetic counseling and phenotype prevention of Duchenne muscular dystrophy].

Literature data and the own ascertainment of Duchenne muscular dystrophy cases concentrated on the Leipzig county confirm the necessity of early diagnosis and of central registration, search for female carries and genetic counselling. A newborn screening is supported provided that its organization will be practicable. About 12% of Duchenne cases are secondary affections of brothers. It should be possible to prevent one third of all cases by means of counselling also of the female relatives of the mothers. The repeated estimation of serum creatinkinase activity, completed by electromyography, has the greatest practical importance for the identification of heterozygous carriers. For the genetic counselling of definite carriers and women at risk it is possible only to recommend intrauterine sex prediction and the selective abortion of male fetuses.

Adolescent↗
PubMed1984

[Acoustically evoked brain stem potential in Wilson disease].

By 48 patients with Wilson's disease the brainstem acoustic evoked potentials were stated. There were 35 pathological findings (73%), 13 were normal (27%). The waves, determined by the middle and upper brainstem (Pons and Mesencephalon) showed most of all pathological changes. Those patients with forms of Wilson's disease called Pseudoskelerose and Pseudoparkinson showed the most pathological findings. But one could watch these findings by about 30% of patients in preclinical stage. This method can possibly be used for early detection of disorders of brainstem functions and in the same way it can be used for control of treatment by patients in preclinical stage.

Adult↗
PubMed1984

[Metabolic myopathies].

Metabolic myopathies are a rare group of disorders. These myopathies reveal a varying severity of a proximal, distal or generalized muscular involvement indicating a progressive myopathy or recurrent episodes of weakness, pain, cramps and stiffness combined with exercise. Some important disorders and their biochemical defects are described. Particular attention is paid to helpful biochemical investigative methods.

Enzymes↗
PubMed1982

[Hemopexin and muscular dystrophy. Diagnosis of carriers of the Duchenne form].

In twelve patients suffering from progressive muscular dystrophy of the Duchenne type and 26 female conductors, 27 patients presenting other forms of muscular dystrophy, 20 unconspicuous family members and in other neuromuscular affections, the haemopexin level was determined besides the cratinine kinase value. Pathological increases in the haemopexin level were found in 17 per cent of the Duchenne patients and in 19 per cent of the conductors as well as in various degrees in patients with other neuromuscular affections. Only eight per cent of the conductors showed an isolated increased haemopexin value, so that the question of a genetic control of the haemopexin level independent of a muscular affection arises. No additional information is obtained by the haemopexin determination for the recognition of conductors.

Adult↗
PubMed1981

[Problems and peculiarities in establishing the genealogical findings and the genetic counseling in hereditary neuromuscular diseases].

Value and regularities of the establishment of genealogical findings and of its evaluation and the genetic counseling are of important also in the hereditary neuromuscular diseases. Moreover, in the individual clinical pictures special tasks and additional diagnostics measures are the result. On the basis of individual instances the problems of the differentiation of the heredity in heterogenia of the phenotype, of the preclinical diagnosis, of the differentiation between the risk of disease and segregation in recessive heredity and of the recognition of carriers in X-chromosomal recessive inherited defects, particularly the progressive muscle dystrophy of the Duchenne type are entered.

Adult↗
PubMed1981

[Hereditary ataxia-problems in the classification, genetics and genetic counseling].

Heredoataxias correspond to a larger number of etiologically different and for the greatest part not yet clarified neurogenic clinical pictures, the common characteristics of which are only the heredity and the leading symptoms of the spinocerebellar ataxia. A systematization and classification of the heredoataxias is therefore above all still based on clinical and pathologo-anatomical signs and may scarcely consider etiologic points of view. Own observations of two of the most important hereditary forms of ataxia, of Friedreich's disease and of the autosomal dominant cerebellar ataxias (Pierre Marie) make clear the problems of the diagnostic limitation and of the genetic advice. From these observations and from the literature references for an optimum subtile clinical and paraclinical diagnostics in heredoataxias are derived.

Ataxia↗
PubMed1981

[Dermatoglyphics and skin folds in Wilson's disease].

Dermatoglyphics and creases of 45 homozygous and 62 heterozygous carriers of the WILSON-gene found in 36 families of the GDR have been compared with a normal population (sufficient number, similar regional distribution). The results have been tested by statistical methods in order to check significance of the observed differences. In contrast to other publications interdigital ridge counts and creases of palmae, plantae and toes have been included into the evaluations. Some of our results differed from those published by other authors. The possible reasons are discussed.

Adolescent↗
PubMed1980

[Wilson's disease in the German Democratic Republic. III. Diagnosis and therapy].

Taking into consideration the manifold symptomatology of Wilson's disease on the one hand and the necessity of an early--possibly already at the asymptomatic stage before the 6th year of life--diagnostic ascertainment on the other hand, the diagnostic approach performed in the GDR is described. Furthermore, the directives of treatment and the successes of treatment are discussed as well as the various side-effects of the D-penicillamine therapy described, in which case the severe nephrotic syndromes are particularly considered.

Adult↗
PubMed1980

[Wilson's disease in the German Democratic Republic. II. Pathogenesis and clinical aspects].

From the point of view of the Leipzig Centre for Wilson's disease in the GDR the authors adopt a definite attitude to the questions of pathogenesis and clinic. Since for the performance of the life-saving long-term therapy the disease must be diagnosed early, in detail are described the preclinical (asymptomatic) and clinical stage--including its various forms of manifestation--and their differential diagnosis and it is dealt with the changed radio-copper-kinetics.

Adolescent↗
PubMed1980

[immunohistologic findings of kidney biopsies in Wilson's disease].

12 patients with Wilson's disease were examined by means of renal biopsy. In 9 of these patients a slight (4 patients) or a strong proteinuria (5 patients) appeared during the therapy with D-penicillamine. A biopsy was performed in 3 patients before the beginning of the therapy with D-penicillamine. The patients with severe proteinuria showed the largest immunohistological changes (partly distinct immune complex nephritis with epimembranous IgG- and complement-(C3-) depositions -- electronoptically membranous glomerulonephritis. In rebiopsy after a stoppage of the medicament of 1 year only a slight tendency to improvement was to be recognized.

Biopsy↗
PubMed1979

[Wilson's disease in the German Democratic Republic. I. Genetics and epidemiology].

The experiences of the central institution for Wilson's disease are reported. On the basis of 126 patients who come from 90 clans with 92 families the authors adopt a definite attitude to the problem of genetics, epidemiology and genetic family consultation. The unexceptional validity of the autosomal-recessive hereditary transmission may be confirmed. An incidence of 2.9/100,000 is assumed, from which a gene frequency of 0.53% and a frequency of heterozygotes of 1.05% can be estimated. The questions of the genetic background of polyphenia are discussed.

Age Factors↗