| 1. |
- Boström, Hans, et al.
(författare)
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PDGF-A signaling is a critical event in lung alveolar myofibroblast development and alveogenesis.
- 1996
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Ingår i: Cell. - : Elsevier BV. - 0092-8674. ; 85:6, s. 863-73
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Tidskriftsartikel (refereegranskat)abstract
- A mouse platelet-derived growth factor A chain (PDGF-A) null allele is shown to be homozygous lethal, with two distinct restriction points, one prenatally before E10 and one postnatally. Postnatally surviving PDGF-A-deficient mice develop lung emphysema secondary to the failure of alveolar septation. This is apparently caused by the loss of alveolar myofibroblasts and associated elastin fiber deposits. PDGF alpha receptor-positive cells in the lung having the location of putative alveolar myofibroblast progenitors were specifically absent in PDGF-A null mutants. We conclude that PDGF-A is crucial for alveolar myofibroblast ontogeny. We have previously shown that PDGF-B is required in the ontogeny of kidney mesangial cells. The PDGFs therefore appear to regulate the generation of specific populations of myofibroblasts during mammalian development. The two PDGF null phenotypes also reveal analogous morphogenetic functions for myofibroblast-type cells in lung and kidney organogenesis.
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| 5. |
- Carlwig, K., et al.
(författare)
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Mandibulotomy access to tumour sites : fewer complications for postoperative compared with preoperative radiotherapy
- 2021
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Ingår i: International Journal of Oral and Maxillofacial Surgery. - : Elsevier BV. - 0901-5027. ; 50:7, s. 851-856
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to compare complication rates at the mandibulotomy site between patients receiving preoperative radiotherapy (RT) and those receiving postoperative RT during treatment for oral and oropharyngeal cancer where the surgical procedure required a mandibular osteotomy to gain access to the tumour. Sixty-four consecutive patients treated during the period 2000–2015 were available for analysis. Their medical records were reviewed retrospectively. All patients were followed for at least 1 year postoperatively. A subgroup of patients received RT on several occasions or long before the mandibulotomy, therefore the statistical comparisons focused on the two groups of patients receiving RT on one occasion and within 6 months prior to or following surgery. Seventeen patients presented a total of 29 complications, yielding an overall complication rate of 27%. Orocutaneous fistula was the most common complication. Patients who received RT preoperatively presented a higher complication rate (9/15; 60%) when compared to those who received RT postoperatively (2/31; 6.5%) (odds ratio 21.8, P < 0.001). This study demonstrated fewer complications in the mandibulotomy area exposed to postoperative RT compared with preoperative RT. It is therefore suggested that, when possible, RT should be given postoperatively if combination treatment with RT and surgery, including a mandibulotomy, is planned.
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| 11. |
- Fergelot, Patricia, et al.
(författare)
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Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
- 2016
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 170:12, s. 3069-3082
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Tidskriftsartikel (refereegranskat)abstract
- Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8–10% of clinically diagnosed cases. Both paralogs act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 proteins. Up to now 26 individuals with an EP300 mutation have been published. Here, we describe the phenotype and genotype of 42 unpublished RSTS patients carrying EP300 mutations and intragenic deletions and offer an update on another 10 patients. We compare the data to 308 individuals with CREBBP mutations. We demonstrate that EP300 mutations cause a phenotype that typically resembles the classical RSTS phenotype due to CREBBP mutations to a great extent, although most facial signs are less marked with the exception of a low-hanging columella. The limb anomalies are more similar to those in CREBBP mutated individuals except for angulation of thumbs and halluces which is very uncommon in EP300 mutated individuals. The intellectual disability is variable but typically less marked whereas the microcephaly is more common. All types of mutations occur but truncating mutations and small rearrangements are most common (86%). Missense mutations in the HAT domain are associated with a classical RSTS phenotype but otherwise no genotype–phenotype correlation is detected. Pre-eclampsia occurs in 12/52 mothers of EP300 mutated individuals versus in 2/59 mothers of CREBBP mutated individuals, making pregnancy with an EP300 mutated fetus the strongest known predictor for pre-eclampsia.
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| 18. |
- Axelsson, I, et al.
(författare)
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[Recommendations for prevention of iron deficiency. Delay cow's milk intake as a beverage to infants until 10-12 months of age!]. : Rekommendationer för att förebygga järnbrist. Vänta med komjölk som dryck tills barnet är 10-12 månader!
- 1999
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Ingår i: Läkartidningen. - 0023-7205 .- 1652-7518. ; 96:18, s. 2206-8
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Tidskriftsartikel (refereegranskat)abstract
- Breast-feeding is to be encouraged during the first six months of life. Iron deficiency is extremely rare in exclusively breast-fed infants during this period. Any cow-milk based formula used should be iron-fortified. During the second half of infancy, the iron content of weaning foods is important in preventing iron deficiency. Indeed, owing to the low iron content of dairy products, it is hard to compose a weaning diet sufficiently rich in iron to meet the demands of rapidly growing infants, if it is to include substantial amounts of cow milk, sour milk or yoghurt. Accordingly, the Paediatric Committee on Nutrition and Health, of the Swedish Paediatric Association and the National Food Administration, recommend delaying the introduction of cow's milk and cow-milk products until the infant is 10-12 months of age. Until then, breast-feeding, and the use of iron-fortified formula or gruel with modified protein and sodium content are encouraged; iron-fortified porridges of softer consistency can be prepared to circumvent the need of extra fluids, or porridge can be served with breast milk or iron-fortified formula; small amounts of milk may be used for cooking purposes.
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| 19. |
- Axelsson, I, et al.
(författare)
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[The AD-drops can be replaced by D-drops]. : AD-dropparna kan ersättas med D-droppar
- 1999
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Ingår i: Läkartidningen. - 0023-7205 .- 1652-7518. ; 96:18, s. 2200-4
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Tidskriftsartikel (refereegranskat)abstract
- Since 1932, when vitamin A and D supplementation, in the form of cod liver oil, was introduced in Sweden, rickets has been a rare diagnosis among Swedish infants. In 1978, the National Board of Health and Welfare issued recommendations of daily supplementation with 300 micrograms (1000 IU) of vitamin A and 10 micrograms (400 IU) of vitamin D. This has recently been under review by the Paediatric Committee on Nutrition and Health, of the Swedish Paediatric Association and the National Food Administration, who concluded that there is no reason to retain vitamin A supplementation, but that vitamin D supplementation should continue to be recommended at the same daily dose (400 IU).
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| 21. |
- Axelsson, Lars, et al.
(författare)
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Swedish National Multicenter Study on Head and Neck Cancer of Unknown Primary: Prognostic Factors and Impact of Treatment on Survival
- 2021
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Ingår i: International Archives of Otorhinolaryngology. - : Georg Thieme Verlag KG. - 1809-9777 .- 1809-4864. ; 25:3
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Head and neck cancer of unknown primary (HNCUP) is a rare condition whose prognostic factors that are significant for survival vary between studies. No randomized treatment study has been performed thus far, and the optimal treatment is not established. Objective The present study aimed to explore various prognostic factors and compare the two main treatments for HNCUP: neck dissection and (chemo) radiation vs primary (chemo) radiation. Methods A national multicenter study was performed with data from the Swedish Head and Neck Cancer Register (SweHNCR) and from the patients' medical records from 2008 to 2012. Results Two-hundred and sixty HNCUP patients were included. The tumors were HPVpositive in 80%. The overall 5-year survival rate of patients treated with curative intent was 71%. Age (p < 0.001), performance status (p = 0.036), and N stage (p = 0.046) were significant factors for overall survival according to the multivariable analysis. Treatment with neck dissection and (chemo) radiation (122 patients) gave an overall 5-year survival of 73%, and treatment with primary (chemo) radiation (87 patients) gave an overall 5-year survival of 71%, with no significant difference in overall or disease-free survival between the 2 groups. Conclusions Age, performance status, and N stage were significant prognostic factors. Treatment with neck dissection and ( chemo) radiation and primary (chemo)
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| 26. |
- Christaller, Wilhelm A A, et al.
(författare)
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L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
- 2016
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Ingår i: Clinical Genetics. - : Wiley. - 0009-9163.
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Tidskriftsartikel (refereegranskat)abstract
- L1CAM gene mutations cause neurodevelopmental disorders collectively termed L1 syndrome. Insufficient information about L1CAM variants complicates clinical prognosis, genetic diagnosis and genetic counseling. We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p.I37N, p.D202Y, p.M172I and p.T38M, located to the two N-terminal Ig-like domains present in five families with symptoms of L1 syndrome. Software tools predicted destabilizing effects of p.I37N and p.D202Y but results for p.T38M and p.M172I were inconsistent. Cell surface expression of mutant proteins L1-T38M, L1-M172I and L1-D202Y was normal. Conversely, L1-I37N accumulated in the endoplasmic reticulum and showed temperature-sensitive protein maturation suggesting that p.I37N induces protein misfolding. L1CAM-mediated cell-cell aggregation was severely impaired by L1CAM variants p.I37N, p.M172I and p.D202Y but was preserved by the variant p.T38M. Our experimental data indicate that protein misfolding and accumulation in the endoplasmic reticulum affect function of the L1CAM variant p.I37N whereas the variants p.M172I and p.D202Y impair homophilic interaction at the cell surface.
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| 27. |
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| 28. |
- Edlund, B, et al.
(författare)
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Anthropometry, body composition and body image in dieting and non-dieting 8-16-year-old Swedish girls.
- 1999
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Ingår i: Acta Paediatrica. - 0803-5253 .- 1651-2227. ; 88:5, s. 537-44
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Tidskriftsartikel (refereegranskat)abstract
- Anthropometry, body composition and body image were studied in 122 Swedish 8-16-y-old girls and their parents. The subjects participated in a 3-y prospective longitudinal study and were selected randomly after stratification for grades from those scoring in the upper vs. the lower thirds of the Children's Eating Attitudes Test (ChEAT) score distribution. The ChEAT was completed 6 mo before the present study together with a demographic and dieting questionnaire and a questionnaire for the estimation of body size. In total 43% (n = 52) admitted ever dieting ("Dieters") and 25% (n = 30) admitted that they were currently trying to lose weight. The anthropometric and body composition data indicated that ChEAT High-scorers and Dieters were somewhat fatter than Low-scorers and Non-dieters, although this pattern was not shown among the 8-y-olds or the 14-y-olds (High-scorers). The mothers of the ChEAT High-scorers were found to be somewhat fatter than the other mothers. A current vs. ideal body shape discrepancy was shown for both High-scorers and Dieters, with a larger discrepancy for the Dieters. All groups believed that their parents were aspiring for a leaner body.
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| 35. |
- Fredholm, BB, et al.
(författare)
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Consequences of eliminating adenosine A(1) receptors in mice
- 2003
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Ingår i: Drug Development Research (Proceedings of the Seventh International Symposium on Adenosine and Adenine Nucleotides - Part 1). - : Wiley. - 1098-2299 .- 0272-4391. ; 58, s. 350-
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Konferensbidrag (refereegranskat)abstract
- The second coding exon of the adenosine A, receptor gene was eliminated by homologous recombination. The phenotype of mice (mixed C57B6/129OlaHsd background) was studied, using siblings from matings of heterozygous mice. Among the offspring the ratio between+/+, +/-and -/-animals was 1:2:1. Over the first half-year-at least-growth and viability were the same in all genotypes. Binding of A(1) ligands was eliminated in-/-mice and halved in+/-mice. Blood pressure was increased in-/-mice and this was paralleled by an increase in plasma renin. Heart rate was unaffected, as was contractility. Furthermore, the response of the perfused heart to ischemia was similar in+/+and -/-hearts. However, remote preconditioning was eliminated in-/-mouse hearts. Tubuloglomerular feedback in the kidney was also lost in-/-mice. The analgesic response to a non-selective adenosing receptor agonist was lost in-/-mice, which also showed hyperalgesia in the tail-flick test. There was a slight hypoactivity in-/-mice, but responses to caffeine were essentially normal. The inhibition of excitatory neurotransmission in hippocampus by adenosine was lost in-/-mice and reduced in+/-mice. Responses to ATP were affected similarly. Hypoxic depression of synaptic transmission was essentially eliminated in hippocampus and hypoxic decrease in spinal respiratory neuron firing was markedly reduced. These results show that adenosine A, receptors play a physiologically important role in the kidney, spinal cord, and hippocampus and that they are critically important in the adaptive responses to hypoxia. (C) 2003 Wiley-Liss, Inc.
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| 38. |
- Gebre-Medhin, M
(författare)
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Jodbrist i ett internationellt perspektiv
- 1995
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Ingår i: Scandinavian Journal of Nutrition - Näringsforskning. ; 39, s. 36-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 44. |
- Gebre-Medhin, Samuel, et al.
(författare)
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Recurrent Rearrangement of the PHF1 Gene in Ossifying Fibromyxoid Tumors.
- 2012
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Ingår i: American Journal of Pathology. - : Elsevier BV. - 1525-2191 .- 0002-9440. ; 181:3, s. 1069-1077
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Tidskriftsartikel (refereegranskat)abstract
- Ossifying fibromyxoid tumor (OFMT) is a soft tissue tumor of unknown lineage. Although most cases are histologically and clinically benign, some show malignant morphological features and local recurrences are not uncommon; a few may even metastasize. In the present study, cytogenetic analysis identified different structural rearrangements of chromosome band 6p21 in tumor cells from three cases of OFMT, including one with typical, one with atypical, and one with malignant morphological features. Mapping of the 6p21 breakpoint by fluorescence in situ hybridization (FISH) indicated that the PHF1 gene was rearranged in all three cases. Further FISH, 5'-rapid amplification of cDNA ends, and RT-PCR analyses disclosed an EP400/PHF1 fusion transcript in one of the cases. Interphase FISH on tumor sections from 13 additional cases of OFMT showed rearrangement of the PHF1 locus in four of four typical, two of three atypical, and one of six malignant lesions. Thus, the PHF1 gene, previously shown to be the 3'-partner of fusion genes in endometrial stromal tumors, is also recurrently involved in the pathogenesis of OFMTs, irrespective of whether they are diagnosed as typical, atypical, or malignant lesions. The PHF1 protein interacts with the polycomb-repressive complex 2 (PRC2), which, in turn, regulates the expression of a variety of developmental genes. Thus, the results indicate that deregulation of PRC2 target genes is crucial for OFMT development.
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