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Biomedical subjects

A Rett

Publications and source records attributed to A Rett.

At least 55 records · Page 3Linked to original sources
PubMed1976

Origin of the extra chromosome no. 21 in Down's syndrome.

Eighteen of 38 examined families with children with Down's syndrome showed polymorphisms of chromosome 21 elucidating the origin of the extra chromosome 21. Maternal origin was found in 10 cases and paternal origin in 8 cases. In both sexes errors occurred both in the first and in the second meiotic division.

Adult↗
PubMed1976

Agyria-pachygyria (lissencephaly syndrome).

A clinico-pathological report is given on 4 cases of agyria (premature neonate to age 13 months), 3 cases of pachygyria (aged 2,5 to 4,3 years) and a boy aged 4,5 years with temporal pachygyria and frontal microgyrias. Clinical features, more pronounced in agyria than in pachygyria, were microcephaly, frequent facial anomalies, neonatal feeding difficulties, hypotonia with subsequent seizures, hypsarrhythmic EEG pattern in 3 children, arrest of psychomotor development and signs of decerebration. One case of agyria occurred with familial faciorenal dysplasia, two were associated with congenital heart disease, and the fourth with chromosomal abnormality. Morphologically, the colpocephalic brain showed a four-layered agyric pallium with radially aligned cell columns and periventricular heterotopias, lacking differentiation of the claustra, olivary heterotopias and cerebellar dysgenesias in the 4 younger infants. In the agyric neonate additional agenesis of corpus callosum was present. Pachygyric brains showed a six-layered cortex, periventricular heterotopias, lacking differentiation of the claustra, but no cerebello-olivary anomalies. Cytoarchitectonic analysis of the agyric cortex suggests a disorder of neuronal migration during stage III of neocortex formation (Rakic and Sidman) between the 11th and 13th fetal week, while the pachygyric cortex showing the later formed layers II and IV presumable is caused by an attenuated and later disorder acting in early stage IV of neocortex formation, i. e. around or after the 13th fetal week. Additional insula-claustrum dysplasia, olivary and cerebellar anomalies are due to concomittent migration disorders between the 11th and 14th week. Along this period there is a gradient from agyric to normal six-layered cortex, whereas microgyria presumably results from an event occurring after migration has terminated (after the 16th fetal week). Etiological factors of agyria-pachygyria may be both hereditary (familial lissencephaly-syndrome) and environmental ones (prenatal drug application or intrauterine perfusion disorders).

Abnormalities, Multiple↗
PubMed1976

[Does a legasthenia-syndrom exist? (author's transl)].

Legasthenia means today mainly the pedagogic definition of different forms of reading and writing deficiencies. Closer investigations on children with these symptoms prove however, that beside reading and writing impediments some physical and psychological symptoms can be found. This cluster of symptoms corresponds in some aspects with the so-called Minimal Brain Dysfunction and the Hyperkinesia-Syndrom. In the clinical and psychological investigations of this syndrom we found a high rate of left-handed patients. We suppose, that the pressure to write with the right hand and to read from the left to the right might be one of the reasons of Legasthenia.

Adolescent↗
PubMed1975

Irregular phenotypic expression of ring chromosomes.

2 patients with 13- and C9-rings are reported. On reviewing the phenotypical features of the published ring carriers and comparing them with our results we do not find any characteristic similarities. This can be explained by cytogenetical and biological findings. We are therefore inclined to reject the existence of clear-cut ring chromosome syndromes.

Child↗
PubMed1975

Manipulation of neurotransmitters by acupuncture (?) (A preliminary communication).

Varying reactions of the vegetative nerve system to various point combinations (for example: vomiting, dizziness, diarrhea, urge to urinate, fatigue or drowsiness, headache), especially to the needling of Tai Chong (Li 3), induced us to perform biochemical studies before and after acupuncture treatment. A group of children and a group of adults were studied. The material studied was urine and blood; from the children, urine only. The following were determined in the urine: indolacetic acid, 5-hydroxy-indol-3-acetic acid, homovanillic acid, and vanillic-mandelic acid; in the blood, tyrosine and tryptophan (free and bound). Individual points with wide influence (He Gu = LI 4; Zu San Li = St 36; Tai Chong = Li 3) and their combination with generally effective points were tested. The needling of Tai Chong especially showed a clear increase in indolamine metabolism. Isolated increases in metabolites of catecholamine metabolism could be correlated with the patient's increased physical activity after acupuncture. Noteworthy is the observation that no significant chemical reactions were evident if local reactions to the needling no longer appeared at the end of a series of acupuncture treatments.

Acupuncture Therapy↗
PubMed1975

[Clinical psychological studies on adolescent and adult mongols (author's transl)].

A group of 20 mongol adolescents and adults with an average age of 19 years was strictly parallelized with a group of 20 brain-damaged adolescents and adults of other diagnostic groups with respect to age and intelligence level (average age 19 and average intelligence 50.65--52.90). The hypothesis of a possible deterioration of performance and personality was checked with the following battery of tests: Hamburg-Wechsler intelligence test for adults, the motoricity test according to Walther and the Rorschach experiment. The average difference in the sub-tests of HAWIE primarily emphasize the psycho-organic disturbance in visual-motor coordination, which is seen to a much greater extent in mongols than in non-mongols. The significant difference in completing pictures indicates an intensification of psycho-organicity. In agreement with the observations of WUNDERLICH, the psychomotoricity of the mongols is significantly slower and less adroit than the psychomotoricity of non-mongol oligophrenias. Non-significant differences in the psycho-organic sign (P%, F+%) in disfavor the mongols were seen in the Rorschach experiment. Factorial analysis distinguished the two groups very clearly. In the three most important factors, the mongol group showed stronger signs of psycho-organicity and weak mental performance associated with an intensified neuroticism factor compared with the brain-damage oligophrenia group of other diagnostic origin.

Adolescent↗
PubMed1975

[The mongol who becomes older (author's transl)].

The intensive concern of society, pedagogics and medicine for the child with disturbed development places Down's syndrome in the center of a new and gratifying interest. People from the most diverse disciplines are now concerned with mongoloid children, many simply following the trend of the times. Whoever has the care not only of the mongoloid child, however, but also of adolescents and adults, is very well aware that there are a series of processes in the physical, spiritual and mental development of the child through to adulthood in which an apparently dynamic characteristic is inherent. Alone and concurrently with several factors they produce impairment of family life with which the relatives are no longer able to deal. The question as to the motive for handing over the mongol concerned to an institution or home often cannot be answered. There are numerous reasons which may apply alone or in combination. As the mongol becomes older, his relatives are also becoming older giving rise to further difficulties. The present study shows that the furture of the mongol child, i.e. his puberty, his adolescence and adulthood must be planned carefully and principally require pedagogical, therapeutic, sociological and organizational consideration and measures. At present the future of the patients under our care does not seem by any means secure and ordered. The euphoria which is obligatory in many places is not justified.

Adolescent↗
PubMed1975

[Investigations of erythrocyte metabolism in trisomy 21 (author's transl)].

Although the present studies were carried out in a large number of patients, it is not possible to say wether (and what kind of) enzymes are genetically fixed on chromosome 21. It is to be hoped that further studies on the question of enzyme localization, particularly of phosphofructokinase, will afford some clarification.

Adenine Nucleotides↗