Insight and disability.
Explore the source record for details and available documents.
Disability Evaluation↗
Biomedical subjects
J Sigmund
Publications and source records attributed to J Sigmund.
[Aortic coarctation and osteogenesis imperfecta].
This is the report of a 4 year old patient with osteogenesis imperfecta tarda and aortic coarctation. The resection of the aortic coarctation was performed when the patient was 5 years old. Postoperative recovery and formation of scar tissue presented no problems. Increased operation risk due to osteogenesis imperfecta (White et al., 1983) and possible abnormal formation of scar tissue due to this collagen disorder necessitated detailed preoperative tests of collagen metabolism. We shall discuss the histological and biochemical results of these tests and evaluate the effect of therapy with catechin.
Aorta, Thoracic↗
Cri du chat-syndrome in combination with partial trisomy 9 p.
A partial monosomy 5p leading to the Cri du chat-Syndrome combined with a partial trisomy 9p was observed in a mentally defective boy with typical clinical features for both syndromes. This chromosomal aberration is inherited from a t [5; 9] (p. 13.3; 13.1) translocation carrier father. Further family investigations showed many balanced translocation carriers through several generations.
Abnormalities, Multiple↗
[Flaccid paralysis following oral poliomyelitis vaccination].
This is the report of a four months old boy who developed a serous meningitis and flaccid paralysis of the left upper and lower extremity 17 days following the first immunisation with a trivalent life poliomyelitis vaccine. The patient recovered well within 2 months. Presently a mild functional disturbance and muscle wasting of the left leg can still be observed. An acute poliomyelitis can be due to a wild virus infection in an unimmunized child. Secondly an acute poliomyelitis can occur as vaccine associated poliomyelitis as it is reported in the immunocompromised host. As a third possibility the remutation of a poliomyelitis vaccine virus in a patient concomitantly infected with cytomegalovirus can be discussed. Our patient showed a normal humoral and cellular immunity. Virologic studies in our patient disclosed a wild poliomyelitis virus type III which was isolated from the stool. It cannot be clearly distinguished at the present time whether this wild virus is due to a remutation in the presence of a recent cytomegalovirus infection in our patient or due to a newly acquired wild virus infection.
Child, Preschool↗
[Mechanism of a genetically conditioned failure to thrive shown in a patient with ring chromosome 18].
The influence of genetic factors on growth is only partially understood. The assumed regulatory mechanism is an interplay of multiple genes, which are localized on various chromosomes. Numerical and unbalanced structural chromosome anomalies cause abundance or lack of genes and gene products. As a consequence the subtle, in their complexity hardly fully conceivable regulatory mechanisms for metabolism and growth of the single cells appear to be disturbed. This kind of model is supported by the occurrence of growth failure in most numerical and structural chromosome anomalies. Further evidence is the variability of the phenotype in cases of ringchromosome 18, which depends on the localization and degree of loss of chromosome material preceding ring formation: depending on the participation of one or several growth-regulating genes normal or impaired growth follows. Consequently we find some normally thrived proponents within the group of predominantly mal grown people with ringchromosome 18. Besides growth the phenotypical variability is concerned with a whole lot of body-functions and systems and virtually every case reported in the literature shows individual signs. This is also true for the patient reported in this paper, in whom we additionally describe the following hitherto not mentioned signs: rudimentary pair of first ribs, apical pulmonary hernias, submammilary dermal groove, hemangioma, meatal stenosis of the urethra, unilateral kidney aplasia, 6 lumber vertebral bodies, umbilical-, abdominal- and inguinal hernias.
Abnormalities, Multiple↗
[Removable complete dentures in patients of older age groups].
Explore the source record for details and available documents.
Aged↗
[Condition of the oral mucosa after short duration wearing of removable Class II dentures].
Explore the source record for details and available documents.
Dental Materials↗
[Polymorphisms of the human chromosome no. 15 (author's transl)].
The short arm of the human chromosome No. 15 is composed of various heterochromatic regions. By using silver staining, mithramycin, Da-DAPI and quinacrine mustard fluorescence staining at least 5 different regions may be differentiated. All these components show independent heteromorphisms allowing easy individual identification of a given chromosome No. 15. These features may be useful for studies on heredity including affiliation cases.
Chromosomes, Human, 13-15↗
Variable substructure in the secondary constriction of the human chromosome 1.
The secondary constriction in human chromosome 1 consists of a proximal segment stained by the GC-specific fluorochrome mithramycin and a distal segment stained by such fluorochromes as DAPI or DIPI, which show enhanced fluorescence intensities in AT-rich regions of the chromosomes. A study involving 21 individuals revealed that both parts are independently involved in length variability. In two cases, two GC-rich regions separated by an AT-rich segment and an additional distal AT-rich part were found.
Base Sequence↗
Satellite association frequency and number of nucleoli depend on cell cycle duration and NOR-activity. Studies on first, second, and third mitoses of lymphocyte cultures.
In human lymphocyte cultures the frequencies of satellite associations in first, second, and third mitoses were investigated using the BUDR-method. A marked decrease of the association frequency with increasing numbers of cell cycles was found. The number of nucleoli seen in interphase is correlated with the satellite association frequency in the respective metaphase. Satellite association is positively correlated to Ag-staining intensity of the NORs. Individual differences in satellite association are due to differences in NOR activity and in lymphocyte activation. BUDR diminishes somewhat the Ag-staining intensity of the NORs but has no effect on satellite association frequencies. The main reason for the decrease of satellite association frequency in second and third lymphocyte mitoses is presumably a certain dislocation of the original chromosome position during mitosis and a decreased possibility of association during the short interphases. The high association frequency in first mitosis resembles the chromosome position in the long interphase of G0-lymphocytes.
Adult↗