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Biomedical subjects

I Mutz

Publications and source records attributed to I Mutz.

At least 37 records · Page 2Linked to original sources
PubMed1992

[Mucoviscidosis screening with immunoreactive trypsin. Initial experiences in Austria].

Up to now, 16.338 IRT-measurements have been carried out on dried blood spot specimens; 15.505 of them were taken in the first week of life. Related to a provisionally chosen cut-off point of 750 ng/ml, 134 newborns (= 0.86%) showed an elevated IRT-value and subsequently were recalled between the fourth and sixth week of life for a second IRT-determination. Twenty-five out of 116 reinvestigated children again showed an elevated value, as based on likewise provisional, age-dependent reference values. Four of these children subsequently were identified as CF patients by sweat testing. So far, we did not encounter any false-negative IRT values. We also commenced to establish a profile of reference values for the first twelve weeks of life; as yet, there are not enough data for definitely defining these limits of normality. In conclusion, IRT-screening appears to be a reliable method for identifying CF patients in the newborn period. Our preliminary results indicate an incidence of CF of 1 to 3880 in the southeast of Austria.

Austria↗
PubMed1992

[Determination of hydrogen in expiratory air of premature infants in suspected necrotizing enterocolitis].

BACKGROUND: Breath hydrogen (H2) analysis has been recommended for the differential diagnosis between necrotizing enterocolitis and transient feeding intolerance. METHODS: We performed 360 breath H2 analyses in 32 unselected premature babies by use of an electrochemical method. RESULTS: All babies on oral feedings excreted H2. The concentration of H2 in expired air was extremely variable and often high even in well premature babies. Antibiotic medication (other than penicillin G alone) inhibited breath hydrogen excretion. CONCLUSIONS: Breath hydrogen analysis can be used as a diagnostic tool for necrotizing enterocolitis if performed in a symptomatic child on oral feedings prior to the initiation of antibiotic therapy.

Birth Weight↗
PubMed1991

[Endocrinologic function following cranial irradiation in acute lymphoblastic leukemia in childhood].

Endocrinological function was evaluated in 31 children after successful treatment of acute lymphoblastic leukaemia. All patients had received combination chemotherapy and 12-24Gy of cranial irradiation according to the German therapy protocols BFM-81, BFM-83 and BFM-86. Height, weight, bone age and pubertal development, as well as hypothalamic-pituitary function were measured. Long-term linear growth was unaffected in all patients. However, 9 patients showed subnormal serum growth hormone levels in response to pharmacological stimulation of the pituitary. All patients had normal levels of T3 and T4, but one patient showed an increased response of thyrotropin to thyrotropin releasing hormone. All prepubertal and postpubertal children demonstrated appropriate secretion of follicle-stimulation hormone (FSH) and luteinizing hormone (LH) after stimulation with LH-releasing hormone (LH-RH). 3 pubertal girls showed adequate oestradiol levels, but abnormally high levels of gonadotropins in response to LH-RH. Sexual development was normal in two of them, but the third had a late menarche and irregular menses. The significance of these findings is discussed in the context of recommendations possibly to further reduce or completely delete prophylactic cranial irradiation.

Adolescent↗
PubMed1990

Childhood acute lymphoblastic leukemia: results of the Austrian Cooperative Study Group with the ALL A 84 protocol.

We prospectively treated 127 children with ALL with a risk-adapted regimen. All patients received the identical induction-consolidation therapy. The early maintenance included intermediate dose methotrexate in patients with standard risk (n = 79) and medium risk (n = 39). In addition patients with high risk (n = 6) received high dose ARA-C followed by L-asparaginase. Intensification treatment and prophylactic cranial irradiation was also tailored according to the risk group. Treatment duration was 2 years. Complete remission was achieved in 97.6% of all patients. Treatment-related toxicity accounted for one death in complete remission. The probability of event-free survival (pEFS) for the combined group was 72% at a median follow-up of 42 months. The pEFS was higher in patients with standard risk (SR) than in patients with medium risk (MR) (80% versus 65%; p less than 0.05) at 30 months, but attenuated in the follow-up evaluation at 42 months (76% versus 63%; p less than 0.1). The number of high-risk patients was too small for statistical evaluation. Relapse within the first 18 months after diagnosis indicated a poor prognosis and was more common in patients with MR than in patients with SR. The immunophenotype of the leukemic cells was not found to constitute an independent risk factor after treatment has been risk-adapted. Patients with an initial white blood cell count of more than 50 X 10(9)/l had a worse prognosis than patients with a lower white blood cell count (p less than 0.01).

Adolescent↗
PubMed1990

Ceftriaxone monotherapy for bacterial meningitis in children.

A total of 33 patients with bacterial meningitis were treated with single daily doses of ceftriaxone (CTR 100 mg/kg/day i.v.) for a median duration of 13 days. Pathogens isolated by culture and/or determined by latex agglutination were 15 Haemophilus influenzae b, 7 Neisseria meningitidis, 2 Streptococcus pneumoniae, 1 group B streptococcus, 2 Streptococcus viridans and 2 Staphylococcus epidermidis. In 4 cases a diagnosis of purulent meningitis could only be made by means of the inflammatory liquor parameters. All cerebrospinal fluid (CSF) drug levels even at the end of the dosing interval were at least 10-fold higher than the MICs of the respective bacterial isolates. The average penetration of CTR into the CSF was 6.6%. Within 12-46 h after the first dose, control spinal taps were performed. Cultures were sterile in all cases. Side effects encountered were diarrhea, exanthema, neutropenia and transient elevation of glutamic oxaloacetic transaminase, but none caused a change of therapy. One patient developed a biliary concrement. No patient died; 5 patients had prolonged fever (greater than 5 days), and 2 were left with persistent hearing deficiencies. CTR can be recommended as a safe and effective antibiotic agent for once daily treatment of bacterial meningitis in children.

Adolescent↗
PubMed1987

[Liver diseases in children and their relatives with homozygous and heterozygous alpha 1-antitrypsin deficiency].

Over a 6-year period 26 infants and children with homozygous (2 Z and 6 ZZ) or heterozygous alpha 1-antitrypsin deficiency (12 MZ, 6 MS) were observed prospectively and their families investigated. 7 of 8 homozygous patients had neonatal hepatitis, whereby 3 of these showed maximum transferase activities during the 5th to 9th months of life. At the age of 7 years 2 of these patients were clinically normal, but only one patient had normal transferases. One patient had cirrhosis with portal hypertension at the age of 16 years 6 months; her nephew showed hypersplenism. Family studies revealed a further 5 relatives of phenotype Z, 16 of phenotype MZ, 3 of phenotype SZ and 1 of phenotype MS; 6 of these had slightly elevated serum transferase activities. 6 patients of phenotype MZ and 2 patients of phenotype MS had neonatal hepatitis but generally with a much better prognosis than in homozygous patients. The other heterozygous patients (6 MZ and 4 MS) had a variety of additional factors determining the disease and the prognosis. Family studies showed a further 7 family members of phenotype MZ, and 2 of phenotype MS; 2 of these had slightly elevated transferase activities, 3 parents had hereditary hyperbilirubinaemia.

Adolescent↗
PubMed1987

[Changes in the vertebrae as an initial symptom of leukemia].

Back pain due to vertebral changes as early feature of acute lymphocytic leukemia (ALL) in childhood has been infrequently reported. There are 8 previously described patients with similar clinical and laboratory data, suggesting a biologically unique subset of ALL. Characteristic findings of this rare primary manifestation of leukemia are lack of significant organomegaly or lymphadenopathy, normal or low white blood cell count with predominance of lymphocytes and rarely circulating lymphoblasts, normal platelet count, uric acid and lactate dehydrogenase values. In the following report we make a further attempt to confirm the hypothesis of a subset of ALL, demonstrating two additional patients with characteristic features of ALL presenting with vertebral changes and low leukemic burden.

Child, Preschool↗
PubMed1986

Infantile type of sialic acid storage disease with sialuria.

We describe a male infant of Austrian ancestry, the main clinical features including attacks of dyspnea due to laryngomalacia, severe mental and motor retardation, pronounced splenohepatomegaly and vacuolisation of peripheral lymphocytes. The clinical condition deteriorated progressively and the child died at the age of 21 months. Phase and electron microscopy of cultured skin fibroblasts showed multiple vacuoles and inclusions suggestive of a lysosomal storage disorder. Increased excretion of free sialic acid was demonstrated by resorcinol staining after routine thin-layer screening for urinary oligosaccharides. Quantitative analyses of urine, leucocytes and cultured fibroblasts revealed 10 to 30-fold increased concentration of free sialic acid. In addition, 3-fold elevated amounts of sialyloligosaccharides were found in the urine. The activities of a variety of lysosomal enzymes, including sialidase, were normal. Our case is compared with infantile sialic acid storage disease recently observed by other authors. The close convergence of clinical, morphological and biochemical signs support the concept of a distinct lysosomal disease entity. The basic defect is so far unknown.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1986

[Results of neuroblastoma treatment in Austria (1979-1984)].

During the period from 1979 until 1984 55 children were registered: 4 in Evan-stage I, 13 in stage II, 16 in stage III, 18 in stage IV and 4 in stage IV-S. 39 of these 55 patients have been followed for a minimum of two years. The current two year survival rate is 10/10 in stages I and II, 6/13 in stage III, 3/14 in stage IV and 2/2 in stage IV-S. These results demonstrate but a slight improvement in patients with stage II since the last Austrian statistic 1974. Despite modern chemotherapy the chance for survival of children with stage III or IV neuroblastoma is poor and better treatment modalities should be searched for.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1985

[Pathologic anatomy and mechanism of brain tissue damage in Mycoplasma infection based on a case report].

The following report deals with the pathological findings in severe brain tissue damage secondary to Mycoplasma infection with positive serological identification. The patient, a girl of 4 1/2 years, presented with the clinical signs of severe cerebral damage of acute onset and succumbed after an illness of 74 days. Autopsy revealed extensive cortical necrosis in one hemisphere with focal necrosis in the basal ganglia of the opposite hemisphere, together with demyelination and marked glial reaction. Although the changes suggest damage due to circulatory factors, the brain vessels appear normal. Disseminated intravascular coagulation appears to be the most likely pathogenesis.

Brain↗
PubMed1985

[Menkes syndrome with excessive skeletal changes].

An infant was seen for multiple fractures at the age of 10 weeks. He developed marked cortical thickening of many bones, which raised the suspicion of a battered child syndrome. Unusual progression of bone thickening and hitherto undescribed excessive bone remodeling led to the diagnosis of Menkes'kinky hair disease, a disorder of the connective tissue caused by a decreased copper bioavailability, to which disease the infant finally succumbed.

Battered Child Syndrome↗
PubMed1985

The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection.

The sequence of reactions involved in plasmalogen biosynthesis has been evaluated in cultured fibroblasts of patients with the cerebrohepatorenal syndrome. A double-label, double-substrate incubation using [1-14C] hexadecanol and 1-0-[9', 10'-3H]hexadecylglycerol was performed to monitor the relative rates of peroxisomal and microsomal biosynthesic steps. [14C] radioactivity associated with 1'-alkenyl groups of plasmalogens was found to be drastically reduced in fibroblasts of affected patients whereas [3H] incorporation was apparently normal. This finding is specific for cerebrohepatorenal syndrome fibroblasts since cell lines of patients with childhood adrenoleukodystrophy and neuronal ceroidlipofuscinosis utilized the lipid precursors of plasmalogen biosynthesis at normal rates. The results show that the defect in plasmalogen synthesis in the cerebro-hepato-renal syndrome is restricted to the peroxisomal steps. The finding of normal microsomal biosynthetic steps was exploited to devise a novel diagnostic assay in fibroblasts and amniocytes based on the comparison of [3H/14C] isotope ratios within aldehydes released from plasmalogens by acid hydrolysis. The procedure can be completed with a minimal amount of cells since it renders quantitative analyses unnecessary. Therefore, this technique appears ideally suited for the sensitive and safe prenatal diagnosis of the cerebro-hepato-renal syndrome.

Abnormalities, Multiple↗
PubMed1985

[High intracranial pressure with the spreading of the cranial sutures as a leading symptom of herpes simplex meningitis].

A four-year old girl developed signs of increased intracranial pressure (head-ache, vomiting, ataxia, tremor, papilledema, cranial suture spread). Abacterial meningoencephalitis due to herpes virus was diagnosed, while the initially suspected brain tumor was ruled out. Without specific therapy the patient recovered completely; even the cranial suture spread disappeared. This case report demonstrates an unusual and more benign course of central nervous herpes virus infection.

Child, Preschool↗
PubMed1984

[Optic nerve hypoplasia and growth hormone deficiency: de Morsier's syndrome].

The association of optic nerve hypoplasia and deficiency of the septum pellucidum and hypopituitarism is known as the De Morsier syndrome or septo-optic dysplasia. Four children with blindness and growth retardation due to growth hormone deficiency are described. Frequent recurrent episodes of severe hypoglycaemia, starting in the newborn period, were observed in three of them. Although visual impairment was noted during the first year and growth failure was detected between the first and sixth year of life in all four patients, the diagnosis of septo-optic dysplasia was delayed for two to six years. Early diagnosis and treatment with growth hormone should prevent attacks of hypoglycaemia and their sequelae and bring about normal growth.

Abnormalities, Multiple↗