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Biomedical subjects

R Jeschke

Publications and source records attributed to R Jeschke.

14 recordsLinked to original sources
PubMed1991

[Specific gene deletion in patients with cystic fibrosis: pilot study of a small patient cohort].

Identification and molecular cloning of the cystic fibrosis (CF)-gene was a major progress in genetic counseling of families with one or more affected children. In caucasian families about 70% of the CF-patients show a homozygous or heterozygous deletion of one amino acid, that is phenylalanine at position 508 (delta F508). In a pilot study we examined the DNA of 14 CF-patients for F508 deletions. DNA was amplified by PCR and hybridized with a oligonucleotide-probe specific for the mutation containing CF-gene. Surprisingly all of the patients had a deletion of F508 of at least one allele (10 for both alleles, 4 for one allele). This method is of great importance for carrier-diagnosis. The finding of these or other deletions within the CF-gene may represent a prognostic marker for this disease.

Adolescent↗
PubMed1990

[Severe liver involvement by Capillaria hepatica].

Human hepatic capillariasis is a rare disease, which predominantly affects children aged 1 to 4 years and has a poor prognosis in extensive infections. This is the first case observed in Germany. The main symptoms are those of severe parasitosis: persistent high fever, hepatomegaly, and excessive hypereosinophilia. Diagnosis is confirmed by the finding of intracellular typical eggs in liver biopsy. There is a lack of established therapy; our 18 months old girl developed liver fibrosis. She survived under a prolonged treatment with high doses of Thiabendazole and two single doses of Ivermectine. Decortin was given to inhibit further granulomatous processes in the liver.

Animals↗
PubMed1978

[The disease pattern of the diffuse, nesidioblastic hyperplasia of the pancreatic islets in newborn and infants (author's transl)].

The course of illness of a male infant who lived for seven months with a diffuse, nesidioblastic hyperplasia of pancreatic islets is described. Before surgical intervention the diagnosis should be ascertained by 1. observation of acetonuria which is always absent after hypoglycemic episodes, 2, the typical constellation of insulin concentration, free fatty acid concentration and beta-hydroxybutyrat during a hypoglycemia (as found by Baker et al. 1976) and/or by simultaneous measuring of glucose-insulin levels under the conditions of fasting as well as of oral leucine, oral glucose and intravenous tolbutamide loading. Therapy with diazoxide should be tried in any case. If all conservative measure fail and relative or absolute hyperinsulinemia is proved, experience shows that an immediate operation is indicated.

Adenoma, Islet Cell↗
PubMed1978

[Influence of nutrition on the cellular defence mechanism (phagocytosis) of preterm and underweight babies during the first six weeks of life (author's transl)].

The phagocytic and NBT reduction indices of 94 preterm and underweight babies, divided into 7 groups and two weight classes, were observed over a period of six weeks while they were observed over a period of six weeks while they were given four commercial baby foods (Humana 0, Meb, Multival, Pomil). In all groups the mean values of both parameters were always within the standard range with only slight differences. In all test subjects, phagocytic activity decreased continuously during the first five weeks, and NBT reducing capacity during the first six weeks. Correlations could not be established between phagocytic or NBT reduction rate and birth weight or gestational age. As compared with the other groups there was a distinct lowering of the phagocytic indices in both Meb groups, which we think is nutrition-dependent and can be interpreted as the result of interaction between nutrition and immunological parameters.

Birth Weight↗
PubMed1977

Phagocyte dysfunction in common variable immune deficiency.

The history of a 13-year old boy is reported who suffered from frequent bacterial, enteroviral, and protozoal infections since late infancy. A decrease in the serum levels of IgG2, IgG3, IgA, a neutrophil dysfunction, and a partial cellular immune deficiency could be demonstrated. A deficiency of folic acid produced a pancytopenia which enhanced the patient's susceptibility to infections. The combined substitution of gammaglobulins and folic acid only was able to break this vicious cycle.

Adolescent↗
PubMed1976

[Surgical indications in ventral sacral meningocele].

Comparison of some cases in adults to an extensive malformation in the small pelvis in a 4 years old girl. Sacral ventral meningoceles are rare spinal malformations which probably result from a dysrhaphic disorder in an early embryonal stage (spina bifida). The dysrhaphic malformation extends towards the os sacrum with a defect in ventral direction. In this paper, we present the cases of one child and three adults. The malformative tumor in the small pelvis of the child was so large that an obstruction of the urinary tract and of the rectum resulted. In addition to this there was a paralysis of the peroneal muscles caused by a congenital defect in the nervous system. The large space occupying tumor in the small pelvis was surgically reduced and separated from the subarachnoid space, after which considerable postoperative improvement was observed. In the cases of the three adults, suffering from lumbal ischialgy, similar but much smaller malformations had been discovered through myelography. Two of these patients improved after removal of degenerated discs, and one by conservative treatment. There was no relation between the neurologic symptoms and the small ventral meningoceles. A surgical removal of sacral ventral meningoceles is indicated, when these appear as space occupying tumors in the small pelvis. The tumor can then be reached from the CSF-space in order to relieve the obstruction of the urinary tract and the rectum.

Adult↗
PubMed1975

[Unilateral agenesis of the common femoral vein in a young boy with Klippel-Trénaunay syndrome (author's transl)].

A boy aged 4 years and 3 months with Klippel-Trénaunay syndrome showed a vein the thickness of a finger running suprapubicly. When he was standing it was filled tightly. Angiography showed agenesis of the right common femoral vein. Reflux from the right leg passed through this vein to the left common femoral vein. On the basis of the literature the place of these vascular dysplasias in the Klippel-Trénaunay syndrome is discussed. Diagnosis and treatment of such venous malformations are mentioned.

Angiomatosis↗
PubMed1975

[Special features of epidural hematoma in neonates and infants (author's transl)].

Epidural hematomas in infancy, meaning up until the closing of the cranial sutures, have special clinical manifestations and courses; four cases will be demonstrated here. Following an often mild cranio-cerebral trauma a characteristical subperiosteal hematoma lacking primary consciousness disturbance and free interval can develop. The considerable loss of blood coming from the epidural hemorrhage, of mainly venous origin, leads to an often extreme anemia and shock syndrome. Due to the combination of shock and increasing brain compression a fulminant course with sudden coma, respiratory failure and irreversible circulatory collapse can terminally occur. Thus one should always think of an epidural hematoma in cases of increasing anemia, shock syndrome and an extending cranial hematoma following a brain trauma in infancy. Rapid trepanation with shock therapy and accompaning blood transfusion allows the prognosis of the epidural hemorrhage in infancy to be essentially better than in adulthood.

Anemia↗
PubMed1974

Localization of calcium-binding protein in intestinal tissue by immunofluorescence in normal, vitamin-D-deficient and uraemic subjects.

Antiserum directed against calcium-binding protein isolated from human kidneys was used for the immunofluorescent localization of calcium-binding protein in human intestine and kidney. Frozen sections of intestine obtained by biopsy from normal persons were tested by the indirect fluorescent antibody technique. Specific fluorescence indicating the presence of calciumbinding protein was observed at both the basal and apical poles of the intestinal absorptive cells while the goblet cells appeared to fluoresce non-specifically. Treatment of rachitic children with 25-hydroxycholecalciferol generally restored the pattern of fluorescence seen in intestinal tissue from normal persons. Examinations of intestinal biopsies from uraemic patients yielded variable results.

Adult↗