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C van den Berg

Publications and source records attributed to C van den Berg.

At least 37 records · Page 2Linked to original sources
PubMed1994

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.

Two additional patients with alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency are described. An 11-month-old girl with nonconsanguineous parents had generalized seizures and no angiokeratoma. Biochemical investigation showed persistent slight oligosacchariduria; enzymatic analysis of plasma, leukocytes, and fibroblasts revealed profound alpha-NAGA deficiency. Heterozygote enzyme levels were found in both parents. The mother has epilepsy, and epilepsy is present in the father's family. A younger, clinically healthy brother also had the enzyme deficiency. Electron microscopy of lymphocytes from the index patient showed no vacuolization. Incubation of cultured fibroblasts with Helix pomatia lectin showed the presence of intracellular N-acetylgalactosamine-containing storage material, not present in a series of 12 normal fibroblast lines. Our cases cannot be classified definitely as infantile cases. Biochemically the diagnosis could easily have been missed. Urinary oligosaccharide pattern after resorcinol staining was identical to those previously described, but excretion was significantly lower than in the reported infantile cases and the bands disappeared after the urine was desalted. The enzyme defect in leukocytes would have been missed with one of the commercial substrates used. For this mild variant of alpha-NAGA deficiency, the clinical pattern is not yet clear; a longer follow-up period is needed.

Diagnosis, Differential↗
PubMed1994

Overexpression of a cellular retinoic acid binding protein (xCRABP) causes anteroposterior defects in developing Xenopus embryos.

We have isolated the first Xenopus laevis cDNA coding for a cellular retinoic acid binding protein (xCRABP). xCRABP contains a single open reading frame, coding for an approximately 15 x 10(3) M(r) protein. Northern blot analysis shows that this cDNA hybridizes to a mRNA that is expressed both maternally and zygotically and which already reaches maximal expression during gastrulation (much earlier than previously described CRABP genes from other species). In situ hybridisation showed that at the onset of gastrulation, xCRABP mRNA is localised at the dorsal side of the embryo, in the ectoderm and in invaginating mesoderm. xCRABP expression then rapidly resolves into two domains; a neural domain, which becomes localised in the anterior hindbrain, and a posterior domain in neuroectoderm and mesoderm. These two domains were already evident by the mid-gastrula stage. We investigated the function of xCRABP by injecting fertilized eggs with an excess of sense xCRABP mRNA and examined the effects on development. We observed embryos with clear antero-posterior defects, many of which resembled the effects of treating Xenopus gastrulae with all-trans retinoic acid. Notably, the heart was deleted, anterior brain structures and the tail were reduced, and segmentation of the hindbrain was inhibited. The effects of injecting xCRABP transcripts are compatible with the idea that xCRABP overexpression modulates the action of an endogenous retinoid, thereby regulating the expression of retinoid target genes, such as Hox genes. In support of this, we showed that the expression of two Xenopus Hoxb genes, Hoxb-9 and Hoxb-4, is strongly enhanced by xCRABP over-expression. These results suggest that xCRABP expression may help to specify the anteroposterior axis during the early development of Xenopus laevis.

Amino Acid Sequence↗
PubMed1993

Iron-dependent stability of the ferredoxin I transcripts from the cyanobacterial strains Synechococcus species PCC 7942 and Anabaena species PCC 7937.

The effect of iron on ferredoxin I specific mRNA levels was studied in the cyanobacterial strains Synechococcus sp. PCC 7942 (Anacystis nidulans R2) and Anabaena sp. PCC 7937 (Anabaena variabilis ATCC 29413). In both strains addition of iron to iron-limited cells resulted in a rapid increase in ferredoxin mRNA levels. To investigate the possible role of the ferredoxin promoter in iron regulation, a vector for promoter analysis in Synechococcus PCC 7942 strain R2-PIM9 was constructed, which contains the ferredoxin promoter fused to the gene encoding beta-glucuronidase (GUS) as reporter. Neither the Synechococcus nor the Anabaena ferredoxin promoter was able to direct iron-regulated GUS activity in Synechococcus R2-PIM9, indicating that transcription initiation is not responsible for the iron-dependent ferredoxin mRNA levels. Determination of the half-life of the ferredoxin transcript in iron-supplemented and iron-limited cells revealed that, in both strains, the ferredoxin transcript is much more stable in iron-supplemented cells than in iron-limited cells. These results lead to the conclusion that in these strains, iron-regulated expression of the ferredoxin I gene is mediated via differential mRNA stability.

Anabaena↗
PubMed1991

Length-dependent activation by Ba2+ and Sr2+ of skinned cardiac and skeletal muscle of the rabbit.

Over a wide range of sarcomere lengths, force activation by Ca2+, Ba2+, and Sr2+ was studied in papillary muscle and in fast skeletal fibers of the gracilis muscle of the rabbit, both skinned by means of freeze drying. The length-tension relations of Ba2+ activation differ significantly from those of Sr2+ and Ca2+ activation with respect to both the value and the position of the maximum. At (almost) full activation, force induced in gracilis muscle by Ba2+ was 50% of the developed force induced by Ca2+. The position of the Sr2+ sensitivity curve for papillary muscle preparations is independent of sarcomere length, in contrast to the position of the Ca2+ sensitivity curves. The binding of Sr2+ to the papillary preparation proves to be very stable as observed from the long-lasting relaxation after activation. Immersion of the papillary preparation in the relaxation fluid after activation with Ba2+ results in a tension transient: a rise in tension followed by a decrease was observed. The maximal value of the tension transient was up to twice the steady tension, dependent on Ba2+ concentration. The steady-state tension was approximately 50% of the Ca2(+)-induced tension. Ba2+ sensitivity curves are not sigmoidal but show a maximum. Above [Ba2+] greater than 10(-5) to 10(-4) M (dependent on sarcomere length) tension decreased. These observations suggest that two counteracting processes govern Ba2+ contraction in papillary muscle preparations, namely activation and inhibition.

Animals↗
PubMed1989

Accidental poisoning in childhood.

A study to determine the circumstances under which children ingested potentially noxious substances and also to ascertain the pharmacological nature and physical appearance of the substances was undertaken. The results suggest that depending on the watchfulness of adults alone is inadequate to prevent accidental poisoning. Measures to reduce the incidence, morbidity and mortality of childhood poisoning are discussed.

Child↗
PubMed1987

Combined heart-lung transplantation in the rat. Comparison of thoracic and abdominal operation techniques.

Recently, we developed two techniques for the combined transplantation of heart and the left lung into the left hemithorax of rats. One technique, with two vessel anastomoses, comprised the microsurgical repair of aorta, anterior vena cava, and left main bronchus. With the other, single vessel technique, only the aorta and bronchus were anastomosed. In this study, we determined the function and histology of syngeneic and cyclosporine (CsA)-treated allogeneic grafts transplanted with both techniques, and compared the results with those of heterotopic heart-lung grafts transplanted with a previously described technique for transplantation into the rat's abdomen. The survival rate of rats operated with either of the thoracic transplantation techniques was high (83%). Lungs and hearts of the grafts functioned well for over two months and had normal morphology when the double vessel technique was used. With the single vessel technique, the function of the lungs started to deteriorate from the third postoperative week onward, probably secondary to congestion. The results of thoracic grafts were superior to those of abdominal transplants, where the nonventilated lungs--especially during immunosuppression--were frequently infected. We conclude that these new techniques for thoracic transplantation are most suitable for research of combined heart-lung transplantation.

Abdomen↗
PubMed1983

Uptake of triiodothyronine into cultured human muscle cells.

The uptake of T3 was measured in cultured human muscle cells at 37 degrees C and pH 7.4 in a medium containing albumin and glucose. The initial up]take increased linearly when the total T3 concentration was varied from 10(-9) to 10(-4) M. At prolonged incubation time the uptake decreased to virtually zero in about 30 min. These data indicate a rapid passive transport mechanism of T3 and a fast equilibration of the cellular T3 with the surrounding medium. In agreement with these conclusions the efflux of T3 was rapid and the initial uptake was not altered by pre-incubation in a T3-containing medium.

Biological Transport↗
PubMedDate not supplied

Effect of sarcomere length and filament lattice spacing on force development in skinned cardiac and skeletal muscle preparations from the rabbit.

Skinned cardiac and skeletal muscle freeze-dried preparations were activated in solutions strongly buffered for Ca2+. The response of single skeletal muscle fibres or thin strips of papillary muscle was investigated in relation to changes in Ca content of the perfusate. Sarcomere length was set and controlled during the experiments. The relation between the negative logarithm of the Ca concentration, the pCa, and the normalized developed force proved to be sigmoidal. The exact position of these curves proved to be dependent upon both sarcomere length and the distance between the filaments. The latter was shown by means of osmotic compression of the fibres using dextran. As a consequence of these observations, it was concluded that the length-tension relation is dependent upon the actual Ca concentration. The results are discussed in terms of cross-bridge interaction.

Animals↗