BTNL2 gene variant and sarcoidosis.
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Biomedical subjects
Publications and source records attributed to E Rohmann.
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Of 44 subjects identified by the screening procedure, 31 were enrolled in the study. Using the modified Vienna Rett score, we divided the patients into three groups: typical the Rett syndrome (RS) (n = 10), incomplete forms of RS (n = 5) and non-RS (n = 16). Genetic investigations were performed in some cases and abnormalities were found in two. EEG and cranial computerized tomography findings are discussed.
We have pursued two blind studies on the plasma glycosphingolipids in patients with the Rett syndrome (RS), other disorders and normal individuals from Baltimore, USA, Vienna, Austria, and Rostock, East Germany. We found the presence of an unusual glycosphingolipid in 70% of patients with RS. Approximately 10% of the plasma from patients with other developmental disorders also contained this glycosphingolipid. However, this glycosphingolipid was absent from the plasma of normal individuals and lipid storage disorders. Further work in this area will be necessary to associate the relevance of this finding to RS.
Early registration of disturbances in the development of infants was based on neurological examination. Since 1984 exists the possibility of psychological evaluation of infants and children in early childhood in the Department of Paediatrics of the University of Rostock. Parents of children suffering from disturbances of development receive additionally to the concept of physiotherapy an early intervention program to furtherance of children. In this way best conditions are prepared in development and evaluation of admission in special institutions (special kindergarten, day-nursery).
Follow-up examination of 95 former patients who had been suffering from encephalitis in infancy were performed. The coincidence of disturbance of consciousness, pathological-EEG and neurological irritation- and deficiency symptoms proved to be an unfavourable prognosis. These patients are especially handicapped in their concentration and motorial performances. Only 50% of the group with a severe course of the disease achieved a complete vocational training.
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The authors first describe problems related to the lowering of infant mortality and deal with the terms "high-risk factor" and "high-risk baby". As a result of the dangers presented by prenatal and perinatal noxae the need arises for low-risk births and optimal care of new-born babies. The public health system must be suitably organized so that babies with case history details can be supervised and others with cerebral motor disturbances without pathological data can be registered in the case history. In the registration of the latter group child-welfare centers have an important role to play. The way in which consulting hours for high-risk children are organized is described. Between 1973 and 1977 regular examinations were made of 1.500 high-risk babies, in three groups (150 premature infants without any additional load factors, 118 premature infants showing dyspnea syndrome, 80 new-born babies with prenatal dystrophy). Of these, the 118 premature infants with dyspnea syndromes had the highest overall percentage of border-line and clearly pathological findings in all examinations. Reference is made to symptoms which point to disturbed development, and to the importance of early diagnosis and therapy in the case of cerebral motor disturbances.
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