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Biomedical subjects

W Künzer

Publications and source records attributed to W Künzer.

At least 55 records · Page 3Linked to original sources

[Alpha 1 antitrypsin deficiency].

Alpha-1-antitrypsin (alpha-1-AT) is a potent protease inhibitor. Its deficiency predisposes to serious diseases such as "neonatal hepatitis" and "obstructive pulmonary emphysema". Due to the existence of multiple codominant alleles at one single locus, there are several genetic variants from alpha-1-AT. In homozygous persons the protease inhibitor type (Pi type) MM is prevailing, in heterozygous persons the Pi types MZ and MS. So far one knows at least 24 different alleles. Their phenotypes differ as well in their electrophoretic position as in the protein concentration of the serum. Pi type MM guarantees a normal concentration of alpha-1-AT in the serum, whereas Pi type ZZ causes of serious alpha-1-AT deficiency which bears a particularly high risk of disease.

Adolescent↗

[Injury caused by glass splinters of the esophagus with smooth passage of the foreign body per vias naturales (author's transl)].

Case report on a 14 months old infant who swallowed a glas splinter while being fed from a jar with commercially prepared strained baby food (fruits). A perforating laceration in the upper posterior wall of the esophagus gave rise to a purulent inflammation of the paraesophageal tissue within 24 hours requiring incision and drainage. The suspected splinter was not found, neither by two esophagoscopies nor by the incision. Therefore the stools were collected for six days and carefully screened with a special technique. Thus a tiny curved glas splinter was detected fitting exactly into a corresponding defect of the upper inner rim of the used jar.

Esophagus↗

Increased serum urate in galactosemia patients after a galactose load: a possible role of nucleotide deficiency in galactosemic liver injury.

Five galactosemic and 5 normal children received an oral load of galactose under standardized conditions. The maximal blood galactose level after 1.5 hours was 12.6 +/- 2.0 (S.D.) mmol/l in individuals with a deficiency of uridylyl transferase (EC2.7.7.12) as compared to 5.8 +/- 1.2 (S.D.) mmol/l in the controls. The concentration of serum urate in galactosemics increased to 155% of the fasting level (P less than 0.005); no rise was detectable in the controls. The elimination of urate with the urine was augmented by the same amount in both groups. Our studies provide evidence for an increased catabolism of hepatic nucleotides. This may lead to a deficiency of nucleotides which is proposed as a cause of galactosemic liver injury.

Blood Glucose↗

[Myelomonocytic leukemia with Philadelphia-positive and Philadelphia-negative cell lines in early childhood (author's transl)].

The authors report on an infant with myeloproliferative syndrome of the myelomonocytic type. The findings fulfilled the criteria for juvenile chronic myeloid leukemia except that there was no increase of fetal hemoglobulin and no depression of erythrocyte carbonic anhydrase I. In one half of the bone marrow cells a Ph1-chromosome was found. During the course of the disease the Ph1-positive clone was successively replaced by cell lines with different chromosomal aberrations. The relationship between the cytogenetic mosaicism and the clinical and laboratory findings is discussed.

Adult↗

[Cholestatic jaundice following disseminated intravascular coagulation ("shock-liver") (author's transl)].

Recently we gained increasing evidence of the fact that cholostatic syndromes in young infants are frequently associated with preceeding shock and disseminated intravascular coagulation. This is illustrated by the case of a 4 weeks-old male infant with urosepticemia due to E. coli, which was successfully treated with additional streptokinase. Therefore, in the age-group of early infancy we have to pay attention to the liver as a potential shock-organ similar to the well known shock organs such as kidneys, lungs, skin and brain.

Anti-Bacterial Agents↗

Studies on the effect of orally administered agar on the serum bilirubin level of premature infants and mature newborns.

The effect of orally administered agar on the serum concentration of bilirubin was tested in 366 premature and newborn infants. For this purpose two different concentrations of agar were added to the milk for 8-10 days. On none of the groups tested did the serum level of bilirubin show a significant decrease after administration of agar. Therefore the attempt to lower the level of serum bilirubin in premature and newborn infants by inhibiting enteric reabsorption by means of adsorbents must be considered a failure.

Agar↗