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Biomedical subjects

H Gröbe

Publications and source records attributed to H Gröbe.

At least 37 records · Page 2Linked to original sources
PubMed1981

Calcified cerebral necrosis following ALL therapy.

Calcified cerebral necrosis was an unusual finding at the autopsy of a 13-year-old girl who died after prolonged therapy for ALL. The patient had shown symptoms of progressive cerebral damage subsequent to a second cycle of prophylactic high-dose cytostatic therapy combined with cranial irradiation. Pathoanatomic examination revealed extensive florid recurrency of meningosis and leukemic encephalosis with scalloped calcified necroses measuring up to 5 cm, in the medullar layer of brain and cerebellum. Located predominantly near the ventricular area, encapsulated necroses showed many fibrous vessels with thickened walls and stenosed or obstructed lumina. The cerebral cortex remained largely unaffected by tissue destruction. Besides methotrexate toxicity and the enhancing effect of irradiation the vascular involvement was interpreted as a particularly important factor. Formal pathogenesis is attributed to combined chemo- and radiotherapy in parallel to leukemic infiltration of vascular walls and partial obstruction of lumina by tumor emboli. Wall damage, severe fibrosis, and consecutive nutritional defects result in the destruction of cerebral tissue. The preferential occurrence of necroses in cortex-adjacent medullar layers is explained by the relatively poor blood supply of this border zone between meningeal and intracerebral tissue, no safe conclusion can be drawn pathoanatomically with regard to the actually fatal factor, whether it is the leukemic infiltration of vascular walls, the effect of cytostatic agents, or that of irradiation. The proposed multifactorial pathogenesis of cerebral calcification may be supported by computed tomography (CT) intra vitam.

Adolescent↗
PubMed1980

Homocystinuria (cystathionine synthase deficiency). Results of treatment in late-diagnosed patients.

The clinical outcome in 12 late-diagnosed patients with homocystinuria is reported. Three children died: all were mentally damaged and were never treated effectively. Eight children have been treated with pyridoxine--or with a low-methionine diet with supplemental L-cystine--for 2 to 9 years. Follow-up of these patients shows a striking improvement in behaviour and intellectual development in close correlation to the biochemical normalisation. No thromboembolic episodes occurred in adequately treated patients. However, in one child thrombosis of the retinal artery developed during dietary failure. In another patient the characteristic symptoms of an endangiitis obliterans completely disappeared. Both the reversibility and the improvement of some of the main sequelae in homocystinuria emphasize the need to treat all patients, regardless of their age at diagnosis.

Adolescent↗
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

Fatal pneumopathy after cytostatic treatment for leukemia in children.

Two cases of fatal pneumopathy during cytostatic therapy for acute lymphatic leukemia of childhood, are reported with pathoanatomical lung findings and general clinical features. Histology revealed massed atypical epithelial proliferation in the bronchiolar terminal pathways (tumourlets) with multinucleated polymorphic giant cells beside pulmonary fibrosis. As causative factors for pulmonary chages hypersensitivity reactions, direct toxicity, or pharmacologic effects are discussed. Formal pathogenesis is explained by an impairment of endothelial cells in alveolar capillaries followed by permeability disorders and interstitial edema with disturbed perfusion. Disseminated intravasal microthrombi are frequent. Restitution to integrity appears possible only under favorable conditions. If the exsudative turns into the proliferative phase, intraalveolar and interstitial pulmonary fibrosis may develop with atypical epithelial proliferations. The prognosis of cytostatics-induced pneumopathies depends essentially on the time when it is diagnosied.

Antineoplastic Agents↗
PubMed1979

Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III.

A new genetic variant of the Sanfilippo syndrome due to deficiency of acetyl CoA: alpha-glucosaminide N-acetyltransferase, was recently demonstrated in four patients. The clinical findings of these patients are reported here. Differential diagnosis from other types of the Sanfilippo syndrome on clinical and routine laboratory criteria is difficult and enzyme assay is necessary to reach the diagnosis. Since two of the patients reported are females and consanguinity was present in one case, autosomal recessive inheritance is most probable.

Adolescent↗
PubMed1978

Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.

Two siblings with increased levels of serum phenylalanine were detected by newborn screening. The older sibling deteriorated neurologically and mentally, despite early dietary control, and died at the age of 6 1/2 years. In the younger sibling phenylalanine hydroxylase activity in liver tissue was normal. Further investigations revealed increased concentrations of biopterin derivatives in the blood, a low excretion of 5-hydroxyindole acetic acid in the urine, and a dihydropteridine reductase deficiency as the cause of hyperphenylalaninaemia. The parents of the siblings showed 50% of the normal dihydropteridine reductase activity in their fibroblasts grown in culture. Neurotransmitter therapy was started in the second child at the age of 6 months and this was followed by distinct neurological and mental improvement.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Vacuolated lymphocytes in type II glycogenosis--a diagnostic approach?

Using electron microscopy, glycogen-filled lysosomes were found in peripheral lymphocytes in 5 cases of the infantile form of glycogenosis type II. In two infants whose blood smears were available, the ultrastructural demonstration of this pathognomonic storage corresponded to well-delineated vacuoles detected by routine light microscopy. Detection of such vacuoles in peripheral lymphocytes by light microscopy and demonstration of glycogen-filled lysosomes by electron microscopy could be a simple and harmless tool for diagnosing the classical form of type II glycogenosis.

Female↗
PubMed1977

[Combination chemotherapy of acute lymphoid leukaemia in children combined with prophylactic cranial irradiation (author's transl)].

From June 1971 to May 1974, 41 children, aged four months to eleven years, with acute lymphoid leukaemia were treated by a schedule which included prophylactic cranial irradiation and intrathecal methotrexate injection after remission (phase II) and combination cytostatic treatment for 2 1/2 years (phase III). Induction of remission (phase I) was usually achieved with vincristine and a corticosteroid. Complete remission, now lasting 18 to 54 months, was obtained in 18 patients (44%), in nine of them without treatment for up to 24 months. Twelve patients (29%) had bone-marrow recurrence, five (12%) CNS and three (7%) testicular recurrence. One child died of liver failure in complete remission. Another nine patients, who had been pretreated according to a different schedule and were in their first remission for six to twelve months, were added to the programme from phase II onwards. Three of them now are in complete remission for 60 to 88 months, seven to 30 months after treatment had been stopped. The results indicate a significantly improved prognosis of acute lymphoid leukaemia in children.

Adrenal Cortex Hormones↗
PubMed1977

[Treatment and results of the first relapse of acute lymphatic leukemia in childhood (author's transl)].

In our experience the prognosis of hematological relapse in patients with acute lymphatic leukemia treated according to the Pinkel programme is very bad. It may be a little better for patients in whom relapse occurred after the end of therapy and who were submitted to intensified cytostatic treatment. The chances for achieving a second long-term remission, if the relapse is confined to the CNS, are also better. This is true particularly for those patients who in addition were given radiotherapy. In recurrence in the testes radiotherapy alone will not suffice and additional intensified cytosatic treatment should be considered.

Bone Marrow Diseases↗
PubMed1975

[Familial occurrence of hydronephrosis and of the mega-ureter -- megacystis syndrome (author's transl)].

The authors describe the familial occurrence of hydronephrosis, the father and two daughters being affected. In another family, mother and son suffered from the mega-ureter-megacystis syndrome. Cases described in the literature are reviewed. It is stressed that relatives of patients with congenital anomalies of the urinary tract should be carefull screened for possible renal abnormalities.

Abnormalities, Multiple↗
PubMed1975

Subacute necrotizing encephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant.

Subacute necrotizing encephalomyelopathy (SNE) has been observed in an infant with regressing psychomotor development. The concentrations of alanine, pyruvate and lactate were increased in the serum and blood as well as in the cerebrospinal fluid. Pyruvate carboxylase activity was reduced in the liver tissue. An inhibitor of thiamine-pyrophosphate-ATP-phosphotransferase was present in the urine. Thiamine treatment was followed by a decrease of serum alanine and blood pyruvate and lactate, but there was no clinical improvement during a period of 17 months. Ultrastructural investigations revealed high glycogen levels in liver tissue and skeletal muscle. These findings contrast with decreased gluconeogenesis, which is suggested by the diminished pyruvate carboxylase activity. Therefore it is concluded that reduced hepatic pyruvate carboxylase activity is not the primary cause of SNE.

Alanine↗