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Biomedical subjects

S Scheibenreiter

Publications and source records attributed to S Scheibenreiter.

At least 37 records · Page 2Linked to original sources
PubMed1980

[Hypergalactosemia in newborns as uncovered by the Austrian screening program in 12 years (author's transl)].

The Austrian Screening Program examined during 12 years 1,002.424 newborns and uncovered 23 cases of Galactosemia by Transferase deficiency, 6 by Kinase deficiency as well as 1 case of Phosphoglucomutase deficiency, 1 of porto-caval shunt and 1 congenital liver cirrhosis. Among the 23 Transferase deficiencies 18 took a fulminating course and 8 of these died. Since introduction of exchange transfusion as emergency treatment and acceleration of the screening procedure only 2 among 11 have died. Half of all Galactosemia cases, Transferase and Kinase, show already at the first examination (2. week) a cataract which however is reversible. In contrast to Kinase deficiency all cases of Transferase deficiency exhibit mental retardation if they grow older. Since treatment is early (9, 7 days), easy and the IQ already at 4 years 10 points below that of treated PKU's of same age a congenital brain damage has to be considered. Galactosemia by Transferase deficiency is in Western-Austria significantly more frequent than in Eastern-Austria. 17 boys compare with 6 girls. Among 6 cases of Galactosemia by Kinase deficiency 1 belonged to a Gippsy and 2 to Yugoslavian guest worker families. The 23 cases with Transferase deficiency had 45 siblings among whom 11 also were galactosemic. In 8 sibships the clinical course was of the same typ, but in 1 family one child showed the fulminating the other the subacute course.

Austria↗
PubMed1980

Excretion of pterins in phenylketonuria and phenylketonuria variants.

Total urinary biopterin (B), neopterin (Ne) and monapterin (M) were measured in 25 healthy newborns, children and adults, in 49 patients with phenylketonuria (PKU) assumed to be deficient in phenylalanine-4-hydroxylase (PH), in 7 patients with dihydrobiopterin synthetase (DHBS) deficiency and in 4 patients with dihydropteridine reductase (DHPR) deficiency. Excretion of Ne based on creatinine (Ne/C) was 6.6 times higher in healthy newborns than in adults, suggesting a slow maturation of DHBS activity. Newborns excreted more Ne than B and adults more B than Ne (32 and 72% B of the sum of B + Ne, respectively). In all cases, excretion of M was 4-15% of that of Ne. PH deficient patients excreted more B and Ne than healthy controls and again, newborns more than older children. In individual patients, excretion of pterins correlated with phenylalanine (Phe) concentration in plasma; plasma Phe of different patients did not correlate well with excretion of pterins. In PKU variants with deficiency of tetrahydrobiopterin (BH4), extreme pterin patterns were observed: in DHBS- and DHPR-deficient patients, less than 3.5 and more than 81% B were found, respectively. All 30 samples from these patients investigated could be distinguished from those of PH-deficient patients and controls by a two-dimensional plot of % B versus B/C. Thus it seems likely that PKU variants due to BH4 deficiency could be detected early and differentiated by measurement of urinary B, Ne and C. This was exemplified already in one case. - In urine of patients with DHBS deficiency, high concentrations of 3'-hydroxysepiapterin were found in addition to Ne.

Adolescent↗
PubMed1979

[Phenylalanine-fetopathia in twins of an undiagnosed phenylketonuric mother (author's transl)].

A case report of microcephalic twins born to a hithertoo undedected phenylketonuric mother is given. The female twin suffered from phenylketonuria, too. The clinical findings included microcephaly, growth retardation, retarded bone age and an unusual facies. The psychomotor development was retarded in both twins, but more so in the phenylketonuric twin despite appropriate low phenylalanine diet.

Adult↗
PubMed1978

[Ring chromosome 15 in a child (author's transl)].

A report is given of the occurrence of a ring chromosome 15 in a 5.6 year-old girl. The features of this case are mental retardation, small stature, microcephaly, malformation of the kidney, congenital heart disease and congenital dislocation of the hips. The features of this syndrome are very variable. Only 4 cases have been described up to 1975.

Child, Preschool↗
PubMed1977

[Ophthalmologic follow-up examination in galactosemia (author's transl)].

In 1966, Thalhammer foundet "The Austrian Newborn Screening Program." Since 1969, we have examined 18 infants with galactosemia at 6 month to 8 year intervals. Even dense lens opacities often disappear with the correct dietary adjustment; progression of the cataract indicates failure to adhere to the prescribed diet.

Cataract↗
PubMed1977

[Treacher-Collins-syndrome (author's transl)].

The Treacher-Collins syndrome is characterised by an anti-mongoloid slant of the eyes, hypoplasia of the facial bones, in particular the the mandible, and malformations of the external and middle ear with hearing loss. Early diagnosis of hearing defects is of prime importance as nowadays suitable treatment can prevent the resulting delay in speech development and secondary intellectual retardation.

Abnormalities, Multiple↗
PubMed1976

[Partial trisomy 9 with partial retention of the long arm (author's transl)].

A new case of partial trisomy 9 is reported. The characteristic clinical features consist of: 1. Microcephaly, enophthalmos, antimongloid slant of the eyes, hypertelorism, protruding ears, large nose, downward slant of the mouth corners, hypoplasia of phalanges. 2. Abnormal dermal ridge system and crease picture: irregularities of the ridge pattern of finger prints, palms and soles, a much reduced total ridge count (TRC), transverse palmar crease on both palms, underdevelopment of the C line. 3 Severe mental retardation. However, this case represents a variation of the chromosomal anomaly described so far, in as much as an important part of the long arm of the additional chromosome 9 is present.

Age Determination by Skeleton↗
PubMed1976

Prospective and retrospective examination of an easily applicable score to predict the probability of premature birth defined by weight.

An easily applicable score to predict the risk of prematurity (Tab. I) (defined by weight) is examined prospectively (scoring during 6 th month of pregnancy) in 431 and retrospectively (obtained after delivery) in 1183 pregnancies. In the prospective study (Tab. II) 71.4% of all pregnancies resulting in babies below 2501 g exceed the proposed 50 points risk probabilty limit whereas only 18.7% of pregnancies with babies of more than 3000 g do so. Excluding pregnancies with 20 or more risk points and excellent prenatal care (8 or more consultations) - which should change the outcome of risk-pregnancies - the percentages are 77.8% and 12.2% respectively (Tab. III). Pregnancies resulting in babies with birth weight of 2501 g -2750 g exceeded the limit in 38.9% and those with babies of 2751 g-3000 g in 20.7%. If 60 risk points are used as the limit the percentages for more than 3000 g until less than 2501 g would be 8.2%, 6.9%, 33.3% and 66.7%. In the resrospective study (Tab. V) 14.7% of all pregnancies with babies above 3000 g exceeded the 50 risk points limit compared with 57.2 of those with babies below 2501 g. Excluding pregnancies with 20 or more risk points and excellent prental care the percentages are 7.6 and 59.4 respectively. In the retrospective study the influence of the quality of prenatal care by the number of consultations (3-4; 5-7; 8 or more) is clearly demonstrable: Pregnancies with more than 50 risk points resulted in 80.7%, 57.1% and 19.8% depending on the quality of care in babies below 2501 g. Pregnancies with 31-50 risk points did so in 47.2%, 20.4% and 11.8%. In 334 women the score could be applied twice, in the 6th month and at delivery. Comparing both scores it was found that only 1.8% of these women exceeded the 50 risk points limit by events occurring after the 6th month scoring (Tab. IV). The score, simple enough to be applied by nurses and midwives, seems to be able to select 77.8% of pregnancies resulting in babies below 2501 g already during the 6th month of pregnancy, i.e. early enough for preventive measures to be taken that decrease the frequency of underweight births by three quarters.

Birth Weight↗
PubMed1976

[Differential diagnosis of chronic myeloic leucemia in infancy (author's transl)].

A 3 months old girl presented with significant enlargement of liver, spleen and lymphnodes, with moderate anemia, thrombopenia and leucocytosis. In the differential count there was a shift to the left and an increase of monocyte-like cells (35%). Differential diagnosis included leucemoid reaction, infectious mononucleosis, myelo-proliferative disorder with a missing C chromosome and chronic myeloid leucemia. Clinical symptoms, cytochemistry and caryotype of bone marrow cells suggested infantile chronic myeloic leucemia and normal ALP index and possibly normal HbF. Treatment with 6-mercaptopurine was followed by partial remission. The therapeutic consequences of exact differential diagnosis are discussed.

Anemia↗
PubMed1976

[Investigation of the frequency of heterozygotes for galactose-1-phosphate-uridyl-transferase-deficiency(galactosemia) in the Vienna area. Comparison with the frequency of homozygotes found by newborn screening (author's transl)].

By routine newborn screening for galactose blood level elevations a great difference in the frequency of Galactosemia by transferase deficiency was observed between Eastern- and Western-Austria. This made enzymatic heterozygousity determinations desirable. At the same time it should be examined whether the frequency of homozygotes found by screening correlates with the frequency derived from the heterozygousity frequency. In a first step the region of Vienna was studied. 377 unselected blood samples were examined following BEUTLER-BALUDA's method. As technical control samples of 9 homozygotes and 12 heterozygotes as found by screening were examined but not included in the frequency study. Arranged following age groups a slight but significant decrease of enzym activity with increasing age could be confirmed (23,89 versus 21,99 U/g Hb). This, increasing the overlapping between normals and heterozygotes of different ages possibly should be kept in mind in individual heterzygousity determinations. The enzymatically determined frequency of heterozygotes was found to be twice as high as the frequency calculated from the frequency of biochemically detected but enzymatically proven homozygotes (1:53 versus 1:99). A comparison of the heterozygousity frequencies found in literature with the results of the most efficient (technically most reliable) screening programs shows that this discrepancy is great and general. Bases on heterozygousity frequencies the frequency of homozygotes found by screening programs seems to be at least 50% too low. Analysis of theoretical possibilities for loss of homozygotes by screening programs makes this explanation highly improbable. It seems more probable that the enzymatically determined heterozygotes frequency is too high by including still undefined allels or allel combinations which result in about half normal activity but not in disturbances resembling classical Galactosemia.

Age Factors↗