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Biomedical subjects

E Ludescher

Publications and source records attributed to E Ludescher.

At least 19 recordsLinked to original sources
PubMed1997

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype.

We report the use of comparative genomic hybridization (CGH) to define the origin of a small extra segment (unidentifiable by classical cytogenetics) present in a de novo add(13)q34 chromosome that we found in the karyotype of a newly born boy with congenital heart defects, brain anomalies and dysmorphic signs. Initial investigation with fluorescence in situ hybridization (FISH) and a chromosome-13-specific library revealed that the excess material was not derived from chromosome 13. To uncover the origin of the unknown chromosome material, CGH was carried out on DNA isolated from blood lymphocytes of the patient. By using a conventional fluorescence microscope with no digital imaging devices, a single distinct region with gain of fluorescent intensity was observed on distal chromosome 6q. Confirmation of this finding by FISH with a chromosome-6-specific paint and a subtelomeric yeast artificial chromosome clone from 6q26-q27, in combination with the band morphology of the small extra chromosomal segment, allowed us to diagnose the additional material as being derived from chromosome 6q23-qter. FISH with a telomere 13q probe detected a terminal deletion of 13q34-qter on the derivative chromosome 13, indicating that the der(13) was a result of a translocation event. Genotyping of the hypervariable apolipoprotein (a) gene, which lies within 6q26-q27, showed that the additional chromosome 6 material was inherited from the mother. The karyotype of the proposita is therefore: 46,XY,-13,+der(13)t(6;13)(q23;q34) de novo (mat). Our results confirm the usefulness of CGH as an attractive alternative method for the characterization of constitutional small genetic imbalances and contribute to the delineation of the trisomy 6q23-qter phenotype.

Abnormalities, Multiple↗
PubMed1989

[The relation of the adolescent and the pediatrician].

In a questionnaire 1016 students were asked for their attitudes towards pediatricians (ped.), general physicians (GP), children's psychiatrists and homeopathists. The survey was carried out in high-schools, in secondary schools, in technical colleges and in special schools for retarded children. To the question "which doctor should treat you in case of illness" 14% of the 13th year chose a pediatrician, 70% a GP, 6% a specialist. From the 16 year olds only 3% wanted a ped., but 60% a general physician and 20% a specialist. In case of mental or psychiatric illness 4% of the 13 year olds chose ped., 18% a GP, 18% a psychiatrist, 42% a children's psychiatrist and 6% a psychologist. Of the 16 year olds only 2% decided to be treated by a ped., 3% by a GP, 23% by a psychiatrist, 30% by a children's psychiatrist and 25% by a psychologist. Asking these students who actually treated them in case of sickness, there was the definite tendency away from the ped. toward the GP in the age group beyond 12 and to specialists of any kind beyond 14 years.

Adolescent↗
PubMed1984

[Duchenne's muscular dystrophy: also in girls?].

Duchenne's muscular dystrophy is inherited as a recessive X-linked trait: Even-though it rarely appears in females it can be seen. We have examined 5 children of one family. Two boys and one girl showed typical symptoms and clinical as well as light- and electronmicroscopical findings of this disease. In order to understand the mode of the genetic pattern, we have analysed the chromosomes, proved the fatherhood and assured the increased Ca-pooling in non-necrotic muscle fibers; in vitro-examinations of the amino-acid-incorporation in ribosomes and of the synthesis of collagen in muscular cells were done as well. Evaluating all of the results, the inheritance must be X-linked recessive and the girl, with high incidence, is a so called "manifesting carrier". The explanation offers Lyons hypothesis, which suggests that in most of the girl's muscle cells the X-Chromosomes, inherited from the mother, are active and lead to the manifestation of the illness. Consequences in advising the family genetically must be taken.

Child↗
PubMed1981

[A survey of infant feeding during the first six months of life (author's transl)].

In 1978--1979 a feeding survey was conducted among infants during the first six months of life. 213 question sheets containing numerous items about breast- and artificial feeding and episodes of significant illness were replied to by 213 german-speaking mothers. The following data were especially remarkable: 68% of the newborn babies were initially breast fed, this percentage declining to 19% after the first month of life. Only 10% of all bottle fed infants received humanized milk formula exclusively. Most of the mothers introduced solid foods too early. The comparison of morbidity between breast, mixed-fed and exclusive artificially fed infants came down significantly in favour of the breast fed group. The different findings are discussed and a programme to promote breast-feeding while still in hospital elaborated upon.

Breast Feeding↗
PubMed1978

[Thrombosis of the renal artery in a newborn (author's transl)].

Very rare informations about thrombosis of the renal artery in newborns in the literature could be found. In a six years old girl in the course of a perinatal asphyxia complicated by shock a renal artery thrombosis was observed. Profuse bleeding, anemia, thrombopenia, prolonged bleeding time and coagulation time and a low percentage of the thrombotest suggested an intravascular coagulation as a possible factor of this disease. The treatment of the coagulopathia was effective. The physical and psychical development of the girl is normal. The inhibition of the renal function, however, is in a compensated state.

Child Development↗
PubMed1976

[Clinically and epidemiology unusual infection with E. coli 0 111:B4 on a newborn division (author's transl)].

From a clinical and epidemiological point of view an interesting infection with the classical dyspepsia coli type 0 111: B4 occurred at a newborn division of a county hospital. During the course of 3 months, 22 newborn children fell seriously ill. Only 2 of these 22 childrens had been nursed before the onset of the infection. All the others had been artifically fed. Three of these offlicted children developed a serious sepsis. One of the children died of pyocyaneus sepsis. The children were treated according to the degree of severity with infusions and given special food supplements prepared with low-fat milk. 13 children had to be fed parenterally for a longer period of time. The source of the infection was discovered in the pipes of sinks in the delivery room and in the cribs of the newborn division. It was possible to eradicate the source of infection and bring the disease under control. Microbiologically a resistance towards all the common antibiotics was noticed, except towards gentamycin to which the bacteria proved to be sensitive.

Breast Feeding↗
PubMed1975

[Disturbance of the Histidine Reabsorption of the Renal Tubes in Patient with Cystine Lysinuria in Conjunction with Severe Cerebral Damage (author's transl)].

The case of a 12-year-old boy with cystine lysinuria is reported. Unusual in this case was the combination of severe mental retardation, cerebral attacks and temporary Parkinson-like neurological symptoms. Biochemically, a disturbance of the histidine reabsorption of the renal tubes was also apparent. Further examination that the renal amino acid reabsorption could not be influenced by treatment with tryptophan. The possible biochemical relationships are discussed.

Amino Acid Metabolism, Inborn Errors↗
PubMed1975

[Problem of circulation disorder in the inferior vena cava in newborn infants].

The authors present a case of congenital obliteration of the inferior vena cava in a newborn baby. The obliteration was distal to the confluence with the hepatic veins. In addition, there was obliteration of the renal and iliac veins as well. Pathogenesis, clinical manifestations and prognosis were discussed in more detail. The development of the venous system and diagnostic and therapeutic possibilities were shortly referred to.

Humans↗