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Biomedical subjects

W Stögmann

Publications and source records attributed to W Stögmann.

At least 73 records · Page 4Linked to original sources
PubMed1979

[Interstitial deletion of a chromosome nr. 13: a new syndrome? (author's transl)].

We report on a 7-year-aged girl with severe mental and physical retardation, short stature and malformations of the face and limbs. In the karyogramm an interstitial deletion of the long arm of a chromosome Nr. 13 was found. The karyotypes of the parents, the girl's brother and of three of her sisters were normal. In the discussion the symptoms of the few hitherto published cases with interstitial or terminal deletion of the chromosome 13 are compared. Till now, however, it is not possible to attach particular symptoms of 13q- -- syndromes to certain bands of the chromosome Nr. 13.

Child↗
PubMed1978

[Silver-Russell syndrome with panhypopituitarism (author's transl)].

This is a report on a 14 years old boy suffering from the unusual combination of Silver-Russell syndrome with panhypopituitarism. The Silver-Russell syndrome is a special form of primordial dwarfism characterised by congenital asymmetry, craniofacial dysmorphy and other anomalies. Its cause is unknown, intrauterine noxes and genetical factors are discussed. In the most cases results of hormone determinations are normal, but also cases with elevated or very low hormone levels were published. This is the first report about a Silver-Russell syndrome combined with panhypopituitarism.

Abnormalities, Multiple↗
PubMed1977

Immunodeficiency with lymphoid hyperplasia.

A 2 1/2-year-old boy presented with recurrent respiratory tract infections, generalized lymphadenopathy and hepatosplenomegaly. Immunologic evaluation revealed a deficiency of humoral immunity. Repeated lymph node biopsies during a 10-year follow-up constantly showed excessive follicular hyperplasia with huge germinal centers consisting of germinoblasts, but lacking plasma cells. The disease can be interpreted as a subtype of the common variable immunodeficiency in which the commutation of germinoblasts to plasma cells in the evolution of B cells is blocked.

B-Lymphocytes↗
PubMed1977

Immunological studies in childhood scleroderma.

The results of immunological studies on 13 children suffering from scleroderma are reported. Antinuclear antibodies with speckled pattern of fluorescence could be found in systemic sclerosis and in 3 patients with scleroderma en bandes. The same patients (except but one with PSS) demonstrated high levels of DNA antibodies. The 2 patients with PSS were found to have a very low percentage of T cells, whereas the percentage of B cells was increased. The results demonstrate the significance of autoimmunity not only in systemic sclerosis but also in focal scleroderma. Beyond this it can be presumed that immune deficiency (with a defect in cellular immunity) may be the predisposing cause of at least progressive systemic sclerosis.

Adolescent↗
PubMed1977

[Investigations of the urinary cAMP-excretion in pseudohypoparathyroidism (author's transl)].

Pseudohypoparathyroidism (PHP) is a hereditary disorder with typical dysmorphic signs and clinical and laboratory symptoms of hypoparathyroidism which is resistant however to parathyroid extract. ALBRIGHT and coworkers supposed that this resistance was caused by an inability of the renal tubules to respond to parathyroid hormone. On three children, suffering from PHP, we could demonstrate that parathyroid extract-resistance disappears during treatment with vitamin D. Measurements of urinary excretion of cAMP, the second messenger for parathyroid hormone, in the same patients showed low basal levels of this nucleotide, which could not be stimulated by parathyroid extract either before or during vitamin D-treatment. This constantly low and by parathyroid extract not stimulable cAMP-excretion is now the symptom with the most diagnostic value for PHP. Beyond this the finding of this defective urinary excretion of cAMP in PHP was able to explain the hitherto unknown pathogenesis of this disorder: the parathyroid hormone -- sensitive adenylcyclase system is here unable to mediate the action of parathyroid hormone on its target cells, so causing a peripheral block of parathyroid-hormone activity. Therefore GREENBERG and coworkers justly term PHP a disease of the second messenger.

Child↗
PubMed1976

[Pseudohypoparathyroidism. Disease of the second messenger].

Pseudo-hypoparathyroidism (PHP) is a hereditary disorder with typical dysmorphic signs and symptoms of hypoparathyroidism, which is resistant to parathyroid hormone (PTH). The knowledge of the role of cyclic adenosine monophosphate (cAMP) as a mediator of the action of PTH and the finding, that parathyroid extract in PHP could not stimulate the urinary excretion of cAMP, were necessary to explain the hitherto unknown pathogenesis of Pseudo-hypoparathyroidism. The PTH-sensitive adenylcyclase-system as second messenger is here unable to mediate the action of PTH on its target cells causing disturbances in calcium and phosphorus metabolism.

Adenylyl Cyclases↗
PubMed1976

[Familial nephrotic syndrome with focal glomerular sclerosis (author's transl)].

This is a report about three siblings (one boy and two girls) suffering from a clinically- and morphologically-identical form of renal disease. The disease began in each case with symptomless proteinuria at the age of 3 years and proceeded after several years to the full-blown picture of idiopathic nephrotic syndrome with the rapid development of renal insufficiency. Histologically, minimal proliferative intercapillary glomerulonephritis with focal sclerosis was found in all 3 cases. This condition was resistant to steroid and immunosuppressive therapy. The incidence and the morphological, clinical and therapeutic peculiarities and the prognosis of familial nephrotic syndrome are discussed on the basis of these case reports.

Adolescent↗
PubMed1976

[Differential diagnosis and course of the idiopathic juvenile osteoporosis (author's transl)].

A case of a twelve year old boy with idiopathic juvenile osteoporosis is reported. The disease is characterized by onset in the prebubertal or pubertal age. The initial complaint is deep pain of the extremities, followed by a decrease in growth and multiple fractures of the spine and lower extremities. Radiologically a severe generalized osteoporosis is shown. Diagnosis depends on the results of clinical and x-ray examination, bone histology studies and the ruling out other forms of osteoporosis, those due to other disease of bones, renal diseases and metabolic or endocrine disturbances. Spontaneous remissions usually follows 2-4 years of disease. A specific treatment is not known.

Age Factors↗
PubMed1975

[Electrical injuries in childhood (author's transl)].

11 children were admitted with electrical injuries to the Department of Paediatrics, University of Graz, over the 10-year period 1965 to 1974. The electricity was of low voltage in the case of 9 of these children, who were injured whilst playing with plug sockets of defective cables and of high voltage in 4 case. 1 child was stuck by lightning. Cessation of respiration occurred in 4 of the patients and was successfully counteracted in all cases by prompt mouth-to-mouth breathing. 7 children were still shocked on admission. All children showed the characteristic skin lesions of electrical injury (current marks of linear, round or spidery form). The boy injured by high voltage electricity received extensive burns, in addition. The modes of electrical injury in childhood, the various forms of the resultant lesions, especially of the skin and the treatment of electrical burns are discussed.

Adolescent↗
PubMed1975

[Lipoid dermatoarthritis (multicentric reticulohistiocytosis) (author's transl)].

The case of a 10-year-old girl with an infrequently observed lipid dermatoarthritis is reported. This is a systemic disease of unknown etiology characterized by a nodular eruption of the skin, mucosa and synovia, resulting in destructive arthritis and disfigurement of the facies. Biopsy of a nodule, whether from skin or synovia, discloses a cellular infiltrate consisting of histiocytes and multinucleated giant cells with lipid inclusions. No effective treatment is known.

Arthritis↗
PubMed1975

[Brain damage and epilepsy in childhood (author's transl)].

Among the 1100 patients with convulsive disorders attending out-patient paediatric clinics of the Universities of Vienna and Graz, there are 14 cases of postnatal posttraumatic epilepsy. The characteristic features of this condition, as evidenced even by this small group of patients are focal epilepsy with focal paroxysms in the EEG, often combined with neurological defects and psychological abnormalities, but more seldom with defects of intelligence; resistance to anticonvulsive drugs is a frequent observation. In a retrospective study such as this, the criteria which could predict the development of epilepsy following posttraumatic brain damage are not sufficiently accurately definable; prospective serial studies on brain-damaged children would be of greater prognostic value. The following parameters seem to be important: the kind of brain damage, the duration of unconsciousness, the frequency of initial convulsive attacks and the persistance of the progression of the EEG changes.

Adolescent↗
PubMed1975

[Treatment of central diabetes insipidus with a combination of chlorpropamide and carbamazepine (author's transl)].

Three patients suffering from central (=neurohormonal) diabetes insipidus were treated with chlorpropamide and carbamazepine simultaneously. This therapy with a combination of the two drugs was based on the aim of getting a good antidiuretic effect when the centrally-stimulating carbamazepine was combined with the peripherally-potentiating chlorpropamide; it was hoped, too, that the side effects of these two drugs, especially the chlorpropamide-induced hypoglycaemia, could be avoided by administration at low dosage. This combined drug therapy proved effective in all three cases: the good antidiuretic effect of chlorpropamide at high dosage is impaired by hypoglycaemia; the combination of carbamazepine allowed the dosage of chlorpropamide to be decreased without impairment of the obtained antidiuretic effect and with avoidance of hypoglycaemia and other side effects. Hence, the combination of chlorpropamide and carbamazepine seems to be recommendable in the treatment of central forms of diabetes insipidus in childhood.

Carbamazepine↗
PubMed1975

Pseudohypoparathyroidism. Disappearance of the resistance to parathyroid extract during treatment with vitamin D.

Serum immunoreactive parathyroid hormone (iPTH) levels were increased in a 15 year old girl with pseudohypoparathyroidism, hypocalcemia, hyperphosphatemia, and minimal phosphaturic and absent hypercalcemic responses to exogenous parathyroid extract (PTE). Following normalization of the serum calcium concentration with vitamin D, serum iPTH and phosphate concentrations returned to the normal range, and phosphaturia could be clearly stimulated and hypercalcemia induced by PTE. On the other hand, the urinary cyclic adenosine 3',5'-monophosphate (cyclic AMP) excretion could not be stimulated, suggesting that in this case, there appears to be no relationship between the urinary excretion of cyclic AMP and the phosphaturic effect of PTE. The minimal phosphaturic effect and the lack of hypercalcemic effects of PTE in untreated pseudohypoparathyroidism can be explained by the secondary hyperparathyroidism causing elevated iPTH levels rather than by a defect at the level of the receptor sites. A requirement of pharmacologic amounts of vitamin D per se, however, for the responsiveness of patients with pseudohypoparathyroidism to PTE cannot be ruled out.

Adolescent↗