Biomedical subjects
Publications and source records attributed to K Baerlocher.
A 6-month-old boy is described presenting with BCG osteomyelitis of the distal metaphysis of the left femur extending into the epiphysis. Epidemiological, diagnostic and therapeutical problems of BCG osteomyelitis after BCG vaccination in the newborn period are discussed reviewing 89 published records of this late onset complication of BCG vaccination.
In the pediatric hospitals and clinics of Zurich, St. Gallen, Winterthur, Aarau and Lucerne, 488 cases of coeliac disease have been found in children born between 1960 and 1978. The diagnosis was established clinically and confirmed by intestinal biopsy in each case. The data of coeliac patients diagnosed before 1966 and after 1975 has proven to be unreliable for statistical evaluation and were omitted from our calculations. During the years 1966-1975, 354 patients with confirmed coeliac disease and 412733 live births were registered. This corresponds, for the symptomatic coeliac disease, to an incidence of 1:1165 in the Northeastern part of Switzerland. A statistical analysis of the data confirmed its validity and the lack of trends during the period of study.
Bejar et al. described increased concentrations of valine, leucine and isoleucine in the plasma of 2 patients with cerebral gigantism (Sotos-syndrome). We have recently investigated a group of 14 children with Sotos-syndrome. The data of the plasma amino-acid determinations were compared with those of aged-matched healthy controls, 9 children with benign muscular hypotonia, 10 children with Down's syndrome and finally with those of 13 children with familial tall stature. The mean concentration of serine, glutamic acid, valine, isoleucine, leucine and phenylalanine was lower in the patients with Sotos-syndrome when compared to the healthy control group. However, all patients with benign muscular hypotonia and Down's syndrome showed increased concentrations of proline, glycine, alanine, ornithine and lysine in the plasma whereas the mean values of the children with familial tall stature differed only slightly from those of the controls. The levels of the plasma-aminoacids in patients with Sotos-syndrome were only slightly different from those in patients with muscular hypotonia, but generally lower than in tall children. We conclude that the determination of plasma-aminoacids is of no value in the diagnosis of Sotos-syndrome.
Hemolytic-uremic syndrome (HUS) accompanied by pneumococcal infections forms a characteristic subgroup of HUS. Pneumococcal neuraminidase splits off neuraminic acid from the glycoproteins present on the surface of red cells, thrombocytes and endothelial cells, and thus exposes the hidden Thomsen cryptantigen (T-Ag). The T-Ag can then react with a complement-fixing antibody of the IgM class which is present in all human plasmas after the age of 6 months. Early diagnosis of T-transformation should be attempted. Highly suggestive hints are: pneumonia, hemolytic anemia, reticulocytopenia, difficulties in ABO typing, a positive direct Coombs test and a positive minor cross-match. The definite diagnosis of T-transformation is established with the aid of anti-T agglutinins from Arachis hypogaea, the common peanut. Two children aged 19 and 22 months with pneumonia, Coombs-positive hemolytic anemia, HUS and exposure of the T-Ag on the red cell membrane are described. In one of them, circulating neuraminidase and circulating pneumococcal antigen of serotype 3 were found. In both children exchange transfusions resulted in elimination of circulating neuraminidase and of T-transformed red cells prone to hemolysis.
Human faecal specimens were incubated under anaerobic conditions with several dideuterated tyrosine metabolites. 3-(4-Hydroxy[3,5-2H2]phenyl)propionic acid and 3-(4-hydroxy[3,5-2H2]phenyl)lactic acid yielded the rearrangment product 3-(3-hydroxy[2,4-2H2]phenyl)propionic acid. The starting materials as well as the product all contained two deuterium atoms both ortho to the hydroxyl group. Therefore the rearrangement reaction must depend on a shift of the side chain.
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.
In two infants with pneumonia, Coombs test positive hemolytic anemia and hemolytic uremic syndrome (HUS), exposure of the Thomsen cryptantigen, probably due to the action of circulating neuraminidase, was demonstrated. Reaction between the exposed T-antigen and anti-T agglutinin, normally present in human blood, can lead to difficulties in serological testing and during blood transfusion. The place of exchange transfusions using washed RBC or heparinized whole blood in the management of this subgroup of HUS is discussed.
White-cell count and differential blood count, total protein, lactate dehydrogenase activity (E.C. 1.1.1.27) and lactate concentration were determined in 496 CSF samples, obtained by lumbar puncture. Lactate was measured with a new enzymatic test. Reference values were determined for lactate and lactate dehydrogenase (90% limits: 1.2-2.1 mmol/l and 6-26 U/l, respectively). Lactate content proved to be best in the differential diagnosis between acute bacterial and abacterial meningitis: concentrations of 3.5 mmol/ml and above were found exclusively in bacterial meningitis. As for other diseases, markedly increased lactate concentrations were measured only in patients with brain tumour or cerebrovascular disease (up to 9.3 mmol/l). Determination of lactate concentration alone would have led to a misdiagnosis of acute bacterial meningitis in 3% of cases. If the CSF contains 3.5 mmol/l lactate or more and the leucocyte cell count is above 800/microliter, brain tumour or cerebrovascular disease can be practically excluded and the diagnosis of bacterial meningitis made with a high degree of reliability.
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Subdural interhemispheric empyema was diagnosed by angiography and computerized tomography (CT) in a 7-year-old boy suffering from acute left hemiparesis. After neurosurgical intervention his condition improved. Peptostreptococcus intermedius was cultured from the empyema. One year after hospitalisation the boy is in good condition. The importance of the CT-scanning for diagnosis and management of brain abscess or empyema is stressed.
An in vivo determination of the phenylalanine-4-hydroxylase (E. C. 1.14.16.1) activity is described. Subjects were loaded wit deuterated L-phenylalanine-d5 (200 mg/kg), and the deuterated tyrosine and deuterated phenylalanine in plasma was analyzed using mass fragmentography. Six phenylketonurics (PKU), four hyperphenylalaninemics and two healthy controls were investigated. This method allowed a specific differentiation between PKU's, hyperphenylalaninemics and health controls. The remaining enzyme activity in hyperphenylalaninemics and in PKU patients can be estimated with relatively high accuracy. The hyperphenylalaninemic patients showed 7--17% of the phenylalanine-4-hydroxylase activity found in the two control persons. The PKU patients under diet showed approximately 2--3% of the activity found in the control group. In the PKU patients, loaded while showing high phenylalanine blood concentrations, no remaining activity could be measured. The logarithm of phenylalanine-d5 over tyrosine-d4 in plasma 1 h after loading gives the best differentiation. One single plasma sample of approximately 0.5 ml is sufficient.
Twenty infants and young children with hereditary fructose intolerance (HFI) were admitted to hospital. None was diagnosed at admission. Referals were for vomiting of unknown aetiology (16X), pyloric stenosis or hiatus hernia (5X), toxic condition (3X), and hepatomegaly of unknown origin (5X). Feeding difficulties (20X), vomiting (18X), and failure to thrive (16X) were leading symptoms. The most frequent clinical findings were hepatomegaly (18X), pallor (14X), haemorrhages (13X). Ascites, oliguria, tachypnoea, fever, splenomegaly and rickets were less frequent. Laboratory findings were indicative of disturbed hepatic and renal tubular function and also of disturbed intermediary metabolism (hypokaliaemia, hypophosphataemia). However, hypoglycaemia was found in only 4 out of 15 patients tested. Differential diagnosis after hospital admission centered on metabolic disorders such as glycogenoses, galactosaemia, tyrosinosis, or Wilson's disease. Hepatitis, toxic hepatosis, liver tumour, intrauterine infection and sepsis were also considered. Eleven children had first ingested fructose within the first 6 weeks of life. The diagnosis was usually established only many weeks or months after first fructose intake and appearance of symptoms. This documents how difficult the diagnosis of this disease can be both in practice and in hospital. The course was severe in 11 children and lethal in 4. In only 5 patients was the course mild. The 16 survivors are doing well under fructose-exclusion diet. Irreversible visual impairment after intraocular haemorrhage occurred once. In each case HFI could have been suspected immediately, had a detailed nutritional history been taken. Practising paediatricians should know the composition of commonly used infant formulae. They should never prescribe sugared condensed milk for intractable vomiting prior to excluding HFI. Solution for intravenous infusion containing fructose and sorbitol are life-threatening for undiagnosed HFI patients.
A diphtheria epidemic in the eastern part of Switzerland in 1974 and the measures which were taken for its management and eradication are described. In particular it is pointed out that at present diphtheria displays atypical clinical symptoms in Europe, a fact that renders the diagnosis very difficult in many cases. Therefore, it is important to perform a throat swab in every patient with suspected diphtheria; it is also necessary to explicitly require a search for C. diphtheriae. The early recognition and early treatment of diphtheria with penicillin or erythromycin is of the utmost importance in order to avoid neurological and cardiac complications. With regard to the management and eradication of a diphtheria epidemic, the most important measures are rapid antibiotic protection of all contacts and a widespread immunization of the population. Vaccination of adults with a DiTe vaccine containing a reduced amount of Di-toxoid is recommanded.
Hydantion-5-propionic acid was detected in massive amounts in the urine of two previously described sisters with folic acid nondependent formiminoglutamic aciduria. HPA was identified rigorously, e.g. by gas chromatography-mass spectrometry, and was measured quantitatively by selected ion monitoring (mass fragmentography) using deuterated HPA as internal standard. Before histidine loading, both girls with the postulated formiminotransferase deficiency excreted an amount of HPA more than 50 times greater than the control subjects. After histidine ingestion, HPA excretion was still doubled or tripled. With the exception of the father, the values for the other members of the family also markedly exceeded the normal range and were of the same order of magnitude as in folate deficiency. Measurement of HPA excretion in urine seems to be a valuable supplement or alternative to the enzymatic FIGu test for the detection of general or functional folate deficiency or impaired folate utilization and it will be indispensable for the detection of (as yet unknown) 4-imidazolone-5-propionic acid hydrolase deficiency.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.