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Biomedical subjects

A Lischka

Publications and source records attributed to A Lischka.

At least 55 records · Page 3Linked to original sources

[Psychosocial dwarfism--a rare form of growth disorder].

Psychosocial dwarfism is a syndrome caused by emotional deprivation (maternal deprivation), characterized by symptoms of delayed motor and intellectual development, abnormal eating and drinking habits, enuresis and encopresis, aggressiveness and a pathological family structure. Diagnosis of psychosocial dwarfism is easy if the case history is carefully elicited and the growth hormone level is determined within the first few days following change in environment (e.g. hospitalization). Difficulty in reaching the correct diagnosis or misdiagnosis can occur if the symptomatology is not studied in its entirety. Diagnosis at the earliest possible stage is very important for the further development of the child, since behavioural disturbances and growth retardation are reversible with environmental change. This is demonstrated by the presentation of the case history of a 6 year-old boy--the third case reported in the German literature.

Child↗

Comparison of chest radiography and static respiratory compliance in the assessment of the severity of pulmonary diseases in newborns with respiratory distress.

In 55 newborn infants with respiratory distress syndrome (RDS) we compared chest radiographs and static respiratory compliance to see which of the two methods would best characterize the severity of pulmonary disease. There was a significant correlation between radiological score and compliance (rs = -0.5776, n = 55, p less than 0.001). Healthy newborns, newborns with RDS who did not need artificial ventilation and those newborns who needed respirator treatment had significantly different values of radiological score and compliance. RDS may be differentiated into groups of diagnoses. Newborns with HMD could be separated from those with wet lung syndrome or aspiration pneumonia by analyzing the radiogram or measuring the compliance. When survivors are compared with those newborns who died, the static respiratory compliance alone could predict the final outcome.

Humans↗

Hemoglobin D "Los Angeles" in an Austrian family: biochemical identification, clinical aspects, and kindred study.

During a screening program for gestational diabetes, hemoglobin D "Los Angeles" (beta 121 Glu----Gln) was detected by HPLC in an overweight but healthy pregnant Austrian woman. The chromatogram of the hemolysate revealed an unusual splitting of the hemoglobin A1 peak. Sequential analysis of the abnormal peptide indicated hemoglobin D "Los Angeles" heterozygosity in the patient. This is the first description of this variant in Germanic-appearing people. In a kindred study of 49 of the 57 living family members spanning four generations, 22 were heterozygous for hemoglobin D "Los Angeles". How this gene got to this region of Austria is unknown, but transfer via Iran and Turkey seems likely.

Austria↗

[Somatomedin activity in Wiedemann-Beckwith syndrome].

Two patients with Wiedemann-Beckwith-Syndrome and neonatal hypoglycemia are reported. The etiology for the impaired glucose metabolism has not been elucitated as yet. In some patients pancreatic islet-cell hyperplasia resulting in hyperinsulinemic hypoglycemia was suspected. Increased somatomedin activity was also proposed. We have measured somatomedin concentrations in both patients by bioassay and radioimmunoassay and found normal or slightly reduced plasma levels with both methods.

Asphyxia Neonatorum↗

[Radiologic changes in metaphyseal chondrodystrophy of the McKusick type (cartilage-hair hypoplasia)].

A ten year old boy with parents of Rumanian and Turkish origin suffered from metaphyseal chondrodysplasia (McKusick type) with typical radiological changes of the metaphyseal endplates. Microscopic examination of his hair revealed only slight diminution of its thickness, and signs of increased brittleness. Because of Hirschsprung's disease resection of colon was performed. No immunologic changes were found.

Achondroplasia↗

[Initial description of hemoglobin D Punjab in an Austrian family].

Haemoglobin D Punjab was detected in a slightly overweight, but otherwise healthy pregnant woman when she was tested for gestational diabetes within the framework of a screening programme. Chromatographic evaluation of the haemolysate by high-pressure liquid chromatography (HPLC) revealed an unusual "splitting" of the A1 peak into two minor peaks. A diabetes-independent haemoglobin variant was suspected and further investigations, including electrophoresis, purification and sequential analysis of the tryptic peptide, identified the abnormal haemoglobin as haemoglobin D Punjab (beta 121 Glu-Gln). This is the first report of this haemoglobin variant in Austria. Various possible modes of geographical spreading of the gene from Punjab (India) are discussed, the land-route via Turkey being the most favourable hypothesis in this case. An investigation of 6 out of 7 living members of the family was undertaken. In 3 instances haemoglobin D Punjab was confirmed by HPLC and electrophoresis. The investigation of the family is currently being expanded to include a total of five generations.

Adult↗

[Identification of hemoglobin D Punjab (beta 121 glu replaced by gln) in an Austrian family. Sequence analysis of the abnormal tryptic peptide beta XTp13].

In the course of a screening programme for gestational diabetes an abnormal haemoglobin fraction was detected by high-performance liquid chromatography (HPLC), used for Hb A1c-quantification. Cellulose acetate electrophoresis revealed a heterozygote haemoglobinopathy with approximately equal amounts of Hb A1 and of an abnormal haemoglobin which migrated in the position of Hb S under the conditions used. Preparative separation of these haemoglobin components was performed by use of a DEAE-cellulose column and standard conditions. alpha- and beta-chains were isolated with CM-sepharose and buffer containing 8M urea. The abnormal component of the aberrant haemoglobin was found to be the beta-chains in reconstitution experiments with globin-chains and haemin. A tryptic hydrolysate of the isolated abnormal beta-chains was analysed by means of HPLC and a C2 reverse phase (RP2). Rechromatography of the abnormal fractions on a C18 reverse phase (ODS) led to a pure preparation of peptide beta XTp13. The amino acid sequence analysis of this peptide showed an exchange of glutamic acid to glutamine in position beta 121 (beta 121 Glu----Gln). By these means evidence was obtained for the existence of a heterozygote Hb D Punjab state in the observed patient.

Adult↗

[Problems of anesthesia for cesarean section in myasthenia gravis].

The case of a 27 year old female, being pregnant the second time and suffering from myasthenia gravis since 1974 is reported. The patient was admitted to the hospital for repeat caesarian section. Anaesthesia of the preoxygenated patient during caesarian section was induced with 0.5% halothane and ketamine (2 mg/kg b.w.) intravenously. Muscle relaxing drugs (competitive and depolarizing inhibitors) as well as morphine derivates (e.g. fentanyl) and barbiturates are contraindicated. Therefore anaesthesia was maintained with 0.2:N2O = 1:1 combined with 0.5% halothane up to the point of ligation of the umbilical cord, and up to 1.5% halothane thereafter. Intubation was performed without muscle relaxation. The postoperative somnolence frequently seen after the combined use of ketamine and halothane was antagonized with physostigmine salicylate. The newborn showed all signs of neonatal myasthenia.

Adult↗

[Interacting between amyloid P and connective tissue proteins ].

In order to look for the position of amyloid P in the macromolecular connective tissue and extracellular matrix system, we performed binding studies involving affinity chromatography. Binding studies revealed the strong binding of fibronectin to amyloid P (S-AP). The fibronectin-amyloid P linkage was dissociated after elution with 2 M urea. Heparan sulfate, a major glycosaminoglycan of the extracellular matrix, showed strong binding to S-AP, which was dissociated at 3 M urea. Laminin, collagen type I and type IV, reduced and alkylated glomerular basement membranes as well as the glycosamino-glycans hyaluronic acid and chondroitin-4-sulfate failed to bind to S-AP. Our binding studies show that amyloid P can react strongly with extra cellular matrix proteins and can help to explain the presence of amyloid P in normal connective tissue.

Amyloid↗

[Marble bones disease--a contribution to its course (author's transl)].

The two different forms of Osteopetrosis Albers-Schönberg are demonstrated by the respective reports on two typical cases. The autosomal dominant form has a late manifestation and is often discovered only by chance. The autosomal recessive form manifests itself in early infancy and often results in death during the first decade of life. There is no known therapy. Pathogenesis and pathophysiology cannot be explained with certainty; an insufficiency of osteoclasts as well as a disturbed ossification process have been postulated. With regard to the prognosis it is essential to realize other forms of osteopetrosis. The genetic aspects are pointed out, in particular their implication in advising families who wish to have further children.

Age Factors↗

[Light and electron microscopic study on the morphological changes in muscle fibers appearing after autologous muscle transplantation].

The extensor digitorum longus muscle of the rat was denervated and transplanted onto the vastus lateralis muscle of the same limb 1 or 2 weeks after denervation. The morphological changes appearing after transplantation were examined by light and electron microscopy. Only three to four superficial layers of muscle fibers remained unchanged after transplantation. The other parts of the transplanted muscle degenerated nearly entirely during the first 10 days. The myofibrils were removed by macrophages, thus within the tubes of basal lamina no contractile material could be observed. In a second period, regeneration of myofilaments took place. 6 weeks after transplantation, newly formed muscle could be observed, capable of normal function. The diameter of the fibres, however, was smaller and the connective tissue between the fibres markedly increased as compared to the normal muscle of the other side. The importance of the findings for muscle transplantation, especially the relationship between satellite cells and myoblasts, is discussed.

Animals↗