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Biomedical subjects

F Eitelberger

Publications and source records attributed to F Eitelberger.

8 recordsLinked to original sources

Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases?

UNLABELLED: We report three children, one presenting with nephropathy, bilateral Wilms tumour (WT) and cryptorchism, one with combined nephropathy and gonadal dysgenesis and one with nephropathy which developed 13 years after a WT. The first case was recognized as typical Denys-Drash syndrome (DDS) which is characterized by the combination of nephropathy, intersex disorders and WT. The two other patients, who did not express the full spectrum of the syndrome, were older than 10 years, when they reached and stage renal failure. The fact that nephropathy in childhood is combined with such rare diseases like gonadal dysgenesis and/or WT, supports the concept of a common aetiology with DDS. Therefore, the patients were analysed for possible Wilms tumour suppressor gene (WT1) mutations. In all three individuals mutations in the heterozygous configuration could be demonstrated. CONCLUSION: These results provide evidence that incomplete and complete DDS are diseases of the same spectrum. WT1 analysis of more children with two symptoms of the triad of DDS should be helpful in establishing genotype-phenotype correlations and in understanding differences in the clinical picture of DDS.

Adolescent

[Vomiting--reflux].

Gastroesophageal reflux (GER) is a common cause of vomiting in childhood. The prevalence of troublesome GER disease is 5-8% in adults as well as in children. Many factors contribute to competency of the gastroesophageal sphincter and development of symptoms. In this article we describe possible mechanisms and clinical symptoms of gastroesophageal reflux. Methods of investigation and management of GER will be discussed.

Adolescent

[The role of serum gliadin antibodies in the diagnosis of celiac disease].

Gliadin antibodies (IgA and IgG) have been determined by enzyme immunoassay (EIA) in our laboratory since 1987. 25 AU (arbitrary units) is recommended as the upper limit of the normal range. Here we report the results of the determinations of gliadin IgA antibodies in 70 patients suspected of having coeliac disease (CD), who underwent a small bowel biopsy for the first time. In 15 untreated patients with proven CD gliadin IgA antibodies ranged from 105 to 765 AU (median = 232 AU), in contrast to the findings in 55 patients with other gastrointestinal diseases (range from 0 to 175 AU, median = 9 AU; p less than 0.0001). The calculated sensitivity was 100% and the specificity reached 62% using 25 AU as a cut off. The recommendation of a higher cut off (50 AU) to achieve a higher specificity (82%) with equal sensitivity is discussed using the ROC curves and the Youden Index. Gliadin IgG antibodies were simultaneously determined in 29 out of the 70 patients. Taking 25 AU as a cut off the sensitivity was also 100% but the specificity was lower (29%) in comparison with gliadin IgA antibody testing. The determination of gliadin IgA antibodies by a standardized EIA is a highly sensitive diagnostic tool for screening candidates for small bowel biopsy suspected of having CD. The number of jejunal biopsies can be greatly reduced by using this test. It can also be used for monitoring patients under gluten-free diet or gluten challenge.

Antibodies

[Initial therapeutic experiences in AIDS in childhood].

The acquired immuno-deficiency-syndrome in children is a diagnostic and therapeutic challenge. The classification of pediatric AIDS follows the recommendation of the C.D.C., Atlanta. We report on three children infected by their HIV-positive mothers. All three mothers were intravenous drugaddicts, one of them already died of AIDS. One child (S.M.) is classified P2-AB, two children (K. C., D. M.) suffering from lymphoid interstitial pneumonia belong to category P2-C. Patient D. M. was treated with prednisolone following the recommendation of Rubinstein. The pulmonary condition improved remarkably. All three patients are being under treatment with oral antimycotics and prophylactically with Cotrimoxacole for pneumocystis pneumonia. Positive experiences in U.S.A. and Europe have encouraged the use of parenteral immunoglobuline-therapy in three of our patients to minimize additional viral or bacterial infections. We report on our first experiences with this therapeutic regimen. The dosage being used is 0.4 g/kg body weight every month.

Child, Preschool

[Observations on neonatal infection].

Among 829 consecutively treated neonatal intensive care patients during the years 1985 and 1986 46 cases of early onset type an 14 cases of late onset type (beyond the 4th day of life) of sepsis neonatorum were diagnosed. Mortality was 20%. In 40% of the cultures penicillin-resistant staphylococcus epidermidis was found. It was resistant to Penicillin however fully sensitive to Cefamandol, Netilmycine and Amicacine. Primary therapy of early onset type of sepsis has to be effective against Streptococci and against Listeria monocytogenes. Blood culture is the only way to proove or to exclude sepsis at a rational way. Good hospital hygiene can prevent a part of late onset type of sepsis. Immuntherapy is regarded as an import part of Sepsistherapy in the newborn.

Anti-Bacterial Agents

[Gentamicin dosage in newborn infants].

Sixty nine pairs of trough and peak serum levels of gentamicin were determined in sixty three cases of gentamicin therapy of suspected sepsis in newborn babies (dosage 3.46 +/- 0.42 mg/kg/day given once a day). Eighty four percent of the trough levels were below 2 mg/l (mean: 1.39-0.60 mg/l). Ninety three percent of the peak levels were between 4 mg/l and 12 mg/l (mean: 7.38-2.35 mg/l). Three peak levels (four percent) were in the potentially toxic range (above 12 mg/l) and eleven trough levels (sixteen percent) were in the potentially toxic range (above 2 mg/l). On the basis of these observations the recommended gentamicin doses during the first two weeks of life is 3-4 mg/kg/day applied once a day. In immature babies with birth weights below 1500 g the daily doses should not exceed 3 mg/kg were as term babies especially during the second week of life should be treated with a daily gentamicin doses of near to 4 mg/kg/day.

Ampicillin

[Local epidemic of neonatal listeriosis in Upper Austria--report of 20 cases].

In an 8 month period, 20 cases of listeriosis among neonates were seen in the Federal District of Upper Austria. The majority of mothers reported influenza-like symptoms at the end of pregnancy. 19 cases were early-onset-infections, 6 infants developed meningitis. Serotype 1/2a was isolated in 7 cases. All were of the same phage type. 15 neonates were successfully treated with aminopenicillin or penicillin. Treatment with cephalosporin was ineffective. 4 mainly premature infants died, 1 was stillborn. There is a strong likelihood of common origin for this prenatal epidemic infection. Because of this epidemic, we recommend a listeria-effective therapy for the early-onset sepsis of the neonate.

Austria