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S Däumling

Publications and source records attributed to S Däumling.

11 recordsLinked to original sources
PubMed1991

Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction.

We present a new patient with vitamin D dependent rickets type II. A 20-month-old Arabian boy whose parents are first cousins showed florid rickets, myelofibrosis and recurrent septicaemia. In addition to absent specific binding for 1,25-dihydroxyvitamin D3 (1,25(OH)2D3). 25-Hydroxyvitamin D3-24-hydroxylase activity could not be induced in cultured fibroblasts. The patient did not respond to 99 micrograms 1,25(OH)2D3 per day, but skeletal and haematological abnormalities improved with daily infusion of 100 mg/kg calcium, as serum parathyroid hormone levels fell to normal values. At the age of 7 years, he died from pneumonia. The improvement of haematological abnormalities with calcium infusions but not with 1.25(OH)2D3 suggests a pathogenetic relationship of myelofibrosis and hyperparathyroidism. Having anti-lipid A IgM antibody titres up to 1:10.000 after Gram negative septicaemias, the patient never produced corresponding IgG antibodies. His neutrophil chemotaxis was persistently reduced to 57% +/- 3% of age-matched controls (P less than 0.028). The patient showed two pathological immune functions considered to contribute to the well-known susceptibility to infection in rickets.

Calcium↗
PubMed1986

[Meningitis following lumbar puncture in bacteremia?].

We report on two infants with bacteremia and the clinical signs of meningitis who developed overt meningitis following an extended period after the first lumbar puncture, in which inconspicuous (cytological and bacteriological) cerebrospinal fluid were found. The causative infective agents of bacteremia and meningitis were identical. The iatrogenic induction of meningitis by the procedure of lumbar puncture in the presence of a bacteremia is imaginable, but has not been proven. Diagnostic consequences are: Every lumbar puncture for bacterial meningitis has to be complemented with a simultaneous blood culture. Lumbar puncture should be repeated when clinical signs of meningitis persists in children, especially in infants with positive blood culture and with inconspicuous cerebrospinal fluid findings in the initial lumbar puncture. Such children should be hospitalized for clinical observation. Therapeutical consequences are presently unclear. Proven recommendations are lacking for the different possible procedures after initial lumbar puncture in children with suspicion of a bacteremia: for instance no therapy or one single antibiotic dose given i.v. immediately following the lumbar puncture or the same treatment as in proven meningitis until microbiological results are obtained.

Humans↗
PubMed1982

[Complications of splenectomy in childhood (author's transl)].

161 children followed up postoperatively following splenectomy, 29% had spherocytosis, 14% Hodgkin's disease, 12% traumatic rupture of the spleen, 11% portal hypertension and 7% idiopathic thrombocytopenia. Postoperatively a slight wound infection occurred in 5% of the children, while complications were seen in 2% which could be interpreted as directly caused by the operation; in 23 patients, however, (i.e. 15%), severely infections occurred such as pneumonia, meningitis and sepsis. The lethality rate of the infected children was 31.8%. Postoperatively we determined the leucocyte count, thrombocytes and erythrocyte count, the immunoglobulins IgG, IgA, IgM and IgE, the serum concentrations of the complement components C3, C4 and the serum proteins alpha 1-antitrypsin and transferrin. The data obtained were compared with the corresponding data reported in the literature.

Adolescent↗
PubMed1982

[Post-splenectomy infections and Pneumococcus vaccination in paediatric surgery (author's transl)].

Morbidity and lethality rates in pneumococal infections are higher among children with underlying diseases associated with restricted or absent splenic function. Vaccination with polyvalent vaccine is indicated in all children who are more than 2 years old and who have been splenectomized or have a congenital asplenia. Since protection by vaccination is 80% only, we combine the vaccination with penicillin prophylaxis for at present at least three to five years after splenectomy and draw the express attention of parents and family physicians to the limited nature of protection afforded by vaccination. An increase in the immunogenicity of polysaccharid antigen vaccine might lead to successful vaccination of children below 2 years of age who are notable for a particularly high risk of infection. First reports have been published in literature on the possibility of re-implantation of splenic tissue after post-traumatic rupture (17, 27, 28) so that it may become possible to employ this method additionally to pneumococcus vaccination. In case of haematological indication for splenectomy this should be postponed as far as possible until the child has completed his fifth year of life.

Antibodies, Bacterial↗
PubMed1982

[Experience with heterotopic autotransplanted splenic tissue in children (author's transl)].

In 5 patients re-implantation of splenic tissue was performed after splenectomy. In all patients growth of the regeneration products was proved by scintiscanning. In two patients only, however, the Howell-Jolly bodies proving the ability of the spleen to perform phagocytosis disappeared from the erythrocytes. Basing on an extensive study of the literature and on the authors' own results, the question is discussed whether re-implantation of splenic tissue after traumatic rupture of the spleen and splenectomy is meaningful or whether splenosis occurring during splenic trauma will already provide satisfactory immunological protection.

Adolescent↗
PubMed1981

Familial lymphohistiocytosis.

Familial lymphohistiocytosis is a genetically transmitted disease affecting infants and very young children with usually a fatal outcome. Cardinal symptoms are fever, hepatosplenomegaly, and pancytopenia. Histologic examination shows infiltration of all organs with phagocytosing histiocytes and lymphocytes as well as atrophy of the normal lymphoid tissue. The distinction from other histiocytic disorders, i.e., Letterer-Siwe disease or malignant histiocytosis, may be difficult. However, the familial occurrence and characteristic findings in the coagulation system and lipid pattern make familial lymphohistiocytosis a sufficiently distinct clinical entity. This report review 79 cases fron the literature and adds four of own observations.

Blood Coagulation↗
PubMed1980

[The Buckley syndrome: recurring, severe staphylococcal infections, eczema and hyperimmunoglobulinemia E. (author's transl)].

Fifteen patients aged between three and 27 years were examined clinically and immunologically. Common to all patients were severe recurring cutaneous and pulmonary staphyloccal infections, chronic eczema, eosinophilia and an extremely elevated serum IgE level. Eight of the patients had in addition facial dysplasia characterised by coarse features, prognathism and poorly formed external ears. Marked osteoporosis, particularly of the vertebral bodies, was observed in eight patients. A constant defect of granulocyte chemotaxis was found in only three patients; fluctuating or constantly normal chemotaxis occurred in six patients. Polycloncal hypergammaglobulinemia was detected in 14 patients, elevated IgD in two patients, a partial T-cell defect in two patients and a history of lack of antibody response in one patient. Therapeutic trails anti-H2 receptor-antihistamines did not produce lasting or satisfactory clinical or immunological results in the pathogenetically unidentified disease.

Adolescent↗
PubMed1978

Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.

A patient with atypical phenylketonuria (defective BH2 synthesis), detected at age 6 months because of severe muscle hypotonia and serum phenylalanine of 20 mg/100 ml, had normal activities of phenylalanine-4-hydroxylase and DHPR in liver biopsy, but only 2% activity in the phenylalanine-4-hyroxylase in vivo test using deuterated phenylalanine. After IV administration of 2.5 mg/kg chemically pure tetrahydrobiopterin bishydrochloride (BH4 . 2HCl), serum phenylalanine decreased from 20.4 to 2.1 mg/100 ml within 3 hours. Administration of 25 mg BH4 . HCl and 100 mg ascorbic acid through a gastric tube decrease; serum phenylalanine from 13.7 to less than 1.6 mg/100 ml within 3 hours and it remained less than 2 mg/100 ml for 2 days.

Biopterins↗