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Biomedical subjects

R Baumgartner

Publications and source records attributed to R Baumgartner.

At least 19 recordsLinked to original sources
PubMed1992

Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.

The son of Kurdish, consanguineous parents (cousin marriage) presented from the first day of life with initially focal and later generalized attacks of epileptic seizures and a severe generalized muscular hypotonia. Urinary excretion of 3-hydroxyisovalerate and of 3-methylcrotonylglycine was persistently increased. Diagnosis of isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency was confirmed in cultured fibroblasts. Psychomotor retardation was progressive, seizures and marked EEG abnormalities persisted. Treatment with leucine and protein-resistricted diet under hospital control did not significantly improve these conditions. The patient died from a cardiac and circulatory failure after a prolonged epileptic attack, with bronchial aspiration. The non-responsiveness of our patient to therapy and the fatal outcome indicate the existence of a severe neonatal variant of this otherwise rather benign genetic enzyme deficiency.

Amnion↗
PubMed1992

[Recurrent eyelid tumor in necrotizing panniculitis].

To our knowledge, necrotizing lid tumors occurring in the context of a necrotizing lobular panniculitis have not yet been described in the literature. Our patient, a 75-year-old male, presented with indolent, nonmoveable subcutaneous lumps that were centrally ulcerating. They appeared first on his upper lid, then on his lower lid and thereafter on the neck, back, upper extremity and abdomen, especially in the area of his cholecystectomy scar. A thorough work-up, which included repeated histopathological examinations performed by several laboratories, led to the diagnosis of an idiopathic necrotizing lobular panniculitis. A serum level determination performed later revealed no alpha 1-antitrypsin deficiency. As the eye-lid's subcutaneous tissue lacks fat, the association between the necrotizing lid tumors and the necrotizing panniculitis appears to be a paradox. In spite of the normal alpha 1-antitrypsin serum levels--determined when the patient's lesions had long ago healed--we think in retrospect that the differential diagnosis should have included the possibility of a decreased alpha 1-antitrypsin serum level (e.g. heterozygous MZ-phenotype). An alpha 1-antitrypsin level deficiency--with resulting decreased inhibition of collagenase and elastase--could account for the necrotizing process that also occurred in the eyelid's subcutaneous tissue. In the Van Gieson stain of this patient's eyelid biopsy, fragmentation of all visible collagen and elastic fibers was noted. In our opinion, the differential diagnosis does include lid involvement with secondary panniculitis caused by partially decreased alpha 1-antitrypsin serum levels and--by exclusion--idiopathic necrotizing lobular panniculitis. Therapeutic possibilities are briefly discussed.

Aged↗
PubMed1992

[Tumorous eyelid changes in systemic diseases].

Lid tumors appear to invite the physician to make a diagnosis at first glance. This poster displays examples of lid tumors that occur in the context of malignancies, inflammatory and metabolic diseases and phacomatoses. The most frequent primary sites in metastatic eyelid tumors are the breast, the lung and cutaneous melanoma. Because of their comparatively low incidence and variable appearance these lid tumors are, at least in the beginning, often misinterpreted. Careful differential diagnosis may help in avoiding the diagnostic pitfalls of the masquerade syndromes. Lid tumors associated with sarcoidosis, lupus erythematosus discoides, lupus vulgaris, syphilis are briefly mentioned. Xanthelasmas occur more frequently in diabetics than in the normal population. About 5% of patients with xanthelasma suffer from hyperlipidemia. Neurofibromas and cavernous hemangiomas of the lid may accompany von Recklinghausen's and Sturge-Weber's diseases.

Blepharitis↗
PubMed1992

Pharmacokinetics of fluorescent polyporphyrin Photofrin II in normal rat tissue and rat bladder tumor.

The transient behavior of the molecular components responsible for fluorescence emission of the photosensitizing polyporphyrin Photofrin II has been studied quantitatively in the liver, small intestines, bladder and muscles of rats. Relative concentrations of the substance were determined fluorometrically in vivo using a Kr(+)-laser (wavelength = 406.7 nm) and a mercury arc lamp (wavelength = 405 or 550 nm) for fluorescence excitation of Photofrin II. Fluorescence was detected at the maxima of the emission bands, at 630 or 690 nm. The results of the experiments show that Photofrin II can be clearly detected by its fluorescence in all the organs investigated from 3 h up to at least 28 days after systemic application of the substance. Within this investigational period the fluorescing components of Photofrin II are released continuously from the organs. In all the tissues examined, an initial decrease with time constants between 2 and 42 h followed by a slow decay with time constants between about 300 and 600 h can be observed. In addition the pharmacokinetics of the fluorescent components of Photofrin II in chemically induced rat bladder tumors with different stages of malignancy were compared to healthy rat bladder tissue. In a time range of 2-10 days after intravenous injection Photofrin II shows a fluorescence 2-5 times brighter in rat bladder tumors than in healthy bladder tissue.

Animals↗
PubMed1992

Enduring dysmetria and impaired gain adaptivity of saccadic eye movements in Wallenberg's lateral medullary syndrome.

Saccadic eye movements and the adaptive control of their amplitudes were examined in patients with Wallenberg's lateral medullary syndrome. Half of the patients had permanent saccadic dysmetria. Their primary saccades had asymmetric amplitudes: those made in response to an ipsilateral target step (i.e. to the lesion side) tended to be hypermetric and saccades made in response to a contralateral target step were strongly hypometric. Multiple correction saccades were needed for target fixation. The adjustment of the amplitude of artificially induced hypermetric saccades, called gain adaptivity, was examined experimentally by using double target steps. The first target step elicited the primary saccade which triggered a further target displacement. This second, intra-saccadic target displacement was opposite to the first target step and caused the primary saccade to overshoot the final target position. In this way a post-saccadic target position error was generated which had to be corrected for foveal fixation. With repetition of this stimulus sequence the saccadic control system of normal subjects made an adjustment in amplitude of the main saccade such that the overshooting gradually diminished. After a few hundred trials primary saccades became orthometric with respect to the final target position; in respect to the first target step they were, however, strongly hypometric. The experimental data show that patients with Wallenberg's syndrome had a reduced capability to readjust saccadic amplitude. This observation together with the enduring saccadic dysmetria suggest that adaptive gain control of saccades is impaired in patients with lesions restricted to the dorsolateral medulla. It is speculated that these lesions most likely disrupt olivo-cerebellar pathways which are believed to be of paramount importance in visuo-motor adaptation of the cerebellum.

Adaptation, Physiological↗
PubMed1991

Maternal vegan diet causing a serious infantile neurological disorder due to vitamin B12 deficiency.

We present a 9-month-old exclusively breast-fed baby of a strict vegetarian mother who had excluded all animal proteins from her diet. The patient's symptoms included dystrophy, weakness, muscular atrophy, loss of tendon reflexes, psychomotor regression and haematological abnormalities. Biochemical investigations revealed severe methylmalonic aciduria and homocystinuria in the patient, slight methylmalonic aciduria in the mother and low concentrations of serum vitamin B12 in both patient and mother.

Adult↗
PubMed1991

Accumulation of odd-numbered long-chain fatty acids in fetuses and neonates with inherited disorders of propionate metabolism.

Fetuses affected with propionic acidemia incorporate great amounts of odd-numbered long-chain fatty acids (OLCFA) into their body lipids. This is due to abundant supply with precursor amino acids of propionyl-CoA throughout pregnancy. After birth, the lower provision of precursor amino acids during dietary treatment compared with fetal life results in a decline of propionyl-CoA production and therefore OLCFA synthesis. However, the observed decrease of OLCFA may also partly reflect the recovery from acute ketoacidotic episodes that the patients experienced soon after birth as long as they were undiagnosed. In a patient with vitamin B12-responsive methylmalonic aciduria treated prenatally with large doses of vitamin B12 given to the mother, the cord plasma lipids contained normal amounts of OLCFA. This indicates that prenatal therapy led to an increased flux of propionyl-CoA through the defective methylmalonyl-CoA mutase step. Thus, in addition to the quantification of a decline in methylmalonic acid in maternal urine, OLCFA in cord blood lipids might be a further parameter for evaluating prenatal treatment in patients with vitamin B12-responsive methylmalonic aciduria.

Acyl Coenzyme A↗
PubMed1991

[Spatial fluorescence imaging of atherosclerotic plaque: contrast enhancement by 2 wavelength laser stimulation, digital image processing and dye marking].

A new video-enhanced fluorescence imaging technique has been used for the first time for in vitro differentiation of human atherosclerotic plaques vs normal arterial wall. Laser-induced superficial tissue fluorescence of specimens from human aorta was documented after alternating excitation with violet (405 nm +/- 5 nm) and blue (470 nm +/- 10 nm) krypton-ion laser light. Subsequent digital subtraction of the corresponding fluorescence images allowed to differentiate areas of atherosclerosis from normal intima. Fluorescence intensity was correlated with the morphological aspect of samples and histology of the plaque. Dihematoporphyrin-ether/ester (DHE) incubation enhanced fluorescence contrast of plaques in comparison to normal artery vessel wall. Depending on the concentration of the incubation solution (10, 20, and 40 micrograms DHE/ml NaCl solution), fluorescence increased. Fluorescence intensity was highest in fatty plaque areas, while calcific lesions showed no substantial DHE uptake.

Angioplasty, Laser↗
PubMed1991

[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].

During a five-year-period (1985-1989) 420,000 newborns in Lower Saxony, FRG, were screened for biotinidase deficiency using biotinyl-para-amino-benzoic-acid as substrate. Three newborns with profound biotinidase deficiency (activity 1.1%, 2.1%, 2.3% of mean normal activity level) were detected. Nine newborns had partial biotinidase deficiency (activity 17-26% of mean normal activity level), thus giving an incidence of 1:140,000 with profound, and 1:46,667 with partial biotinidase deficiency, respectively. The infants with profound biotinidase deficiency are treated with biotin (2 x 5 mg/day) from the 3rd, 6th and 8th week of life and have developed normally so far. The children with partial biotinidase deficiency are not treated but followed up closely. The necessity of newborn screening for biotinidase deficiency is stressed.

Amidohydrolases↗
PubMed1990

Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described. Therapy with hydroxycobalamin, folate and vitamin B6 improved his condition. As hypomethioninaemia and homocystinaemia persisted, he was treated with intramuscular methylcobalamin, but without success. Treatment with betaine started at 25 months of age, normalized plasma methionine and elicited disappearance of homocystinaemia. Results of biochemical studies in cultured fibroblasts paralleled those described for other Cbl-C patients except that methylmalonyl-coenzyme A mutase activity in disrupted fibroblasts was in the normal range.

Betaine↗
PubMed1990

Response of human endometrium and ovarian carcinoma cell-lines to photodynamic therapy.

The response of the human gynecological carcinoma cell-lines HEC-1-A (endometrial carcinoma) and OvCar-3 (ovarian carcinoma) to photodynamic therapy in vitro was examined. The porphyrin compound Photosan III (Ph III) was used for photosensitization of the cells after incubation times of 24 h (HEC-1-A) and 48 h (HEC-1-A and OvCar-3). The Ph III doses varied from 0-10 micrograms/ml medium. Irradiation was performed with laser light at 630 nm. Irradiation doses up to 20 J/cm2 were applied at an irradiance of 40-100 mW/cm2. Cell vitality of the untreated control groups and of the therapy group was determined 48 h after irradiation, using the trypan blue exclusion test. The experimental results show that treatment of OvCar-3 cells with 10 J/cm2 resulted in a decrease in vitality dependent on photosensitizer dose (0-5 micrograms/ml, 48 h incubation time) but independent of the irradiance (40-100 mW/cm2). Complete cell death was observed after application of irradiation doses in the range of 5-20 J/cm2 combined with drug concentrations of 10-2.5 micrograms/ml, at a fixed incubation time of 48 h. HEC-1-A cells did not survive photodynamic therapy with 10 J/cm2 after incubation with 5 micrograms/ml for 48 h. After a shorter incubation time of 24 h, 10 micrograms/ml Ph III was necessary for the same effect. There was a maximum decrease in cell vitality when measured 48 h after irradiation. This was not improved at 72 h.

Cell Line↗
PubMed1990

Clinical experience with the integral photodynamic therapy of bladder carcinoma.

Photodynamic therapy (PDT) was given to 20 patients who had recurring superficial tumours after unsuccessful application of other treatments. The phototherapeutic results were evaluated by check-ups at 3 month intervals (endoscopy, cytology, bladder mapping, renal ultrasonography) and computed tomography (CT) examination at 8-13 month intervals. In six patients treated with PDT no tumour recurrence was found over the whole observation period up to nearly 5 years. Four patients remained free of tumour (12 and 14 months) after repeated transurethral resection (TUR) and Nd:YAG laser therapy following PDT. Due to an initial application of insufficient irradiation, four patients required a second photodynamic treatment. In one of these cases a circumscribed dysplasia which appeared at the left ostium 26 months following PDT was treated successfully using the Nd:YAG laser following TUR. In six patients slight mucosal atypia persisted for a period of at least 2.5 years. One cystectomy had to be performed because of bladder shrinkage. The dissected bladder was free of tumour. According to these preliminary results, PDT with strict patient selection (worst case situation with recommended cystectomy) is justified in the case of recurrent superficial TIS bladder carcinoma.

Antineoplastic Agents↗
PubMed1990

[Determination of choroid circulatory parameters].

The equipment needed for digital image acquisition and computer-aided image analysis of ICG-choroidal angiograms is shown. The approach to image analysis, the algorithms utilized and the 2- and 3-dimensional graphic display of some of our preliminary results are briefly explained. This image analysis method allows one to summarize information from a whole image sequence into topographical 3-dimensional displays of choroidal blood flow parameters of interest.

Algorithms↗
PubMed1990

[Congenital limb abnormalities: amputate or not amputate?].

Congenital limb deficiencies pose quite a number of questions, problems and tasks that go far beyond the surgical and prosthetic-orthotic aspects present. The question of amputation in view of improved function and appearance as well as easier prosthetic provision can be answered only in the context of the orthopaedic-surgical and prosthetic possibilities available. Social, cultural and religious factors are in addition enumerated that have to be taken into account.

Amputation, Surgical↗
PubMed1990

[Photodynamic therapy of bronchial cancer].

Photodynamic therapy (PDT) with porphyrin derivatives (haematoporphyrin and dihaematoporphyrin äther/ester) and laser light of the wavelength 640 nm, is a new procedure for the treatment of carcinomas. This form of therapy is selective, can be applied through the bronchoscope, and is aimed at accomplishing curative elimination of central tumours of the lung. To date, we have successfully applied PDT in four selected patients. Our first patient was treated in April, 1987. The irradiation modalities and the clinical course are described.

Adenocarcinoma↗