| 1. |
- Gehlen, J., et al.
(författare)
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First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
- 2022
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Ingår i: Human Genetics and Genomics Advances. - : Elsevier BV. - 2666-2477. ; 3:2
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Tidskriftsartikel (refereegranskat)abstract
- Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene CTNNA3 (p = 2.11 × 10−8; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10–5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 × 10−10; OR = 1.47; 95% CI, 1.38–1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 × 10−16; OR = 1.75; 95% CI, 1.64–1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% ± 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes. © 2022 The Authors
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| 2. |
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| 3. |
- van der Steeg, H. J.J., et al.
(författare)
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The impact of perioperative care on complications and short term outcome in ARM type rectovestibular fistula : An ARM-Net consortium study
- 2019
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Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468. ; 54:8, s. 1595-1600
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Tidskriftsartikel (refereegranskat)abstract
- Background: The impact of perioperative care interventions on postreconstructive complications and short-term colorectal outcome in patients with anorectal malformation (ARM) type rectovestibular fistula is unknown. Methods: An ARM-Net consortium multicenter retrospective cohort study was performed including 165 patients with a rectovestibular fistula. Patient characteristics, perioperative care interventions, timing of reconstruction, postreconstructive complications and the colorectal outcome at one year of follow-up were registered. Results: Overall complications were seen in 26.8% of the patients, of which 41% were regarded major. Differences in presence of enterostomy, timing of reconstruction, mechanical bowel preparation, antibiotic prophylaxis and postoperative feeding regimen had no impact on the occurrence of overall complications. However, mechanical bowel preparation, antibiotic prophylaxis ≥ 48 h and postoperative nil by mouth showed a significant reduction in major complications. The lowest rate of major complications was found in the group having these three interventions combined (5.9%). Multivariate analyses did not show independent significant results of any of the perioperative care interventions owing to center-specific combinations. At one year follow-up, half of the patients experienced constipation and this was significantly higher among those with preoperative mechanical bowel preparation. Conclusions: Differences in perioperative care interventions do not seem to impact the incidence of overall complications in a large cohort of European rectovestibular fistula-patients. Mechanical bowel preparation, antibiotic prophylaxis ≥ 48 h, and postoperative nil by mouth showed the least major complications. Independency could not be established owing to center-specific combinations of interventions. Type of study: Treatment study. Level of evidence: III
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| 4. |
- Fanjul, María, et al.
(författare)
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Tethered cord in patients affected by anorectal malformations : a survey from the ARM-Net Consortium
- 2017
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Ingår i: Pediatric Surgery International. - : Springer Science and Business Media LLC. - 0179-0358 .- 1437-9813. ; 33:8, s. 849-854
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The goal of this study was to determine the degree of consensus in the management of spinal cord tethering (TC) in patients with anorectal malformation (ARM) in a large cohort of European pediatric centers. Methods: A survey was sent to pediatric surgeons (one per center) members of the ARM-Net Consortium. Results: Twenty-four (86%) from ten different countries completed the survey. Overall prevalence of TC was: 21% unknown, 46% below 15, and 29% between 15 and 30%. Ninety-six agreed on screening all patients for TC regardless the type of ARM and 79% start screening at birth. Responses varied in TC definition and diagnostic tools. Fifty percent of respondents prefer ultrasound (US), 21% indicate either US or magnetic resonance (MRI) based on a pre-defined risk of presenting TC, and 21% perform both. Discrepancy exists in complementary test: 82% carry out urodynamic studies (UDS) and only 37% perform somatosensory-evoked potentials (SSEP). Prophylactic untethering is performed in only two centers (8%). Conclusions: Survey results support TC screening in all patients with ARM and conservative management of TC. There is discrepancy in the definition of TC, screening tools, and complementary test. Protocols should be developed to avoid such variability in management.
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| 5. |
- Rubel, Marek, et al.
(författare)
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Overview of tracer techniques in studies of material erosion re-depostion and fuel inventory in tokamaks
- 2004
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Ingår i: Journal of Nuclear Materials. - : Elsevier BV. - 0022-3115 .- 1873-4820. ; 329, s. 795-799
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Tidskriftsartikel (refereegranskat)abstract
- C-13 labeled methane and rhenium-boron coated plates were used at the JET tokamak as tracers for studies of the material transport, its erosion and re-deposition. Experimental procedures are described. The results are discussed in terms of processes underlying the material transport and the change of morphology of targets exposed to the plasma: physical sputtering, chemical erosion, prompt re-deposition. The influence of wall materials on fuel inventory is also addressed. C-14 measurements in the TEXTOR tokamak are presented and possibilities of using C-14 in carbon migration studies are considered.
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| 6. |
- Stenström, P, et al.
(författare)
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Total colonic aganglionosis: multicentre study of surgical treatment and patient-reported outcomes up to adulthood.
- 2020
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Ingår i: BJS open. - 2474-9842. ; 4:5, s. 943-953
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Tidskriftsartikel (refereegranskat)abstract
- Surgery for total colonic aganglionosis (TCA) is designed to preserve continence and achieve satisfactory quality of life. This study evaluated a comprehensive group of clinical and social outcomes.An international multicentre study from eight Nordic hospitals involving examination of case records and a patient-reported questionnaire survey of all patients born with TCA between 1987 and 2006 was undertaken.Of a total of 116 patients, five (4·3 per cent) had died and 102 were traced. Over a median follow-up of 12 (range 0·3-33) years, bowel continuity was established in 75 (73·5 per cent) at a median age of 11 (0·5-156) months. Mucosectomy with a short muscular cuff and straight ileoanal anastomosis (SIAA) (29 patients) or with a J pouch (JIAA) (26) were the most common reconstructions (55 of 72, 76 per cent). Major early postoperative complications requiring surgical intervention were observed in four (6 per cent) of the 72 patients. In 57 children aged over 4 years, long-term functional bowel symptoms after reconstruction included difficulties in holding back defaecation in 22 (39 per cent), more than one faecal accident per week in nine (16 per cent), increased frequency of defaecation in 51 (89 per cent), and social restrictions due to bowel symptoms in 35 (61 per cent). Enterocolitis occurred in 35 (47 per cent) of 72 patients. Supplementary enteral and/or parenteral nutrition was required by 51 (55 per cent) of 93 patients at any time during follow-up. Of 56 responders aged 2-20 years, true low BMI for age was found in 20 (36 per cent) and 13 (23 per cent) were short for age.Reconstruction for TCA was associated with persistent bowel symptoms, and enterocolitis remained common. Multidisciplinary follow-up, including continuity of care in adulthood, might improve care standards in patients with TCA.
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| 7. |
- Andersson, P. O., et al.
(författare)
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Pen injection and change in metabolic control and quality of life in insulin dependent diabetes mellitus
- 1997
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Ingår i: Diabetes Research and Clinical Practice. - 0168-8227 .- 1872-8227. ; 36:3, s. 169-172
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Tidskriftsartikel (refereegranskat)abstract
- A second follow-up of metabolic control and quality of life in insulin dependent diabetes mellitus (IDDM) patients who had switched 3 years before from syringe to multiple pen injection treatment, was carried out. A total of 73 consecutive outpatients were enrolled in the initial follow-up study in 1988, 1 year after their changeover to insulin pen, with their metabolic control and quality of life examined. The present study concerns the reexamination of 65 of them in 1990. Their HbA(1c) level was recorded yearly, already from 1987, on. After an enhancement of metabolic control in 1988, exhibited primarily by patients with fewer syringe injections before pen treatment, control up to 1990 was found to have regressed to about baseline level or to have gradually declined. Patients who perceived their ability to self-test blood glucose to have decreased exhibited the least satisfactory course of metabolic control. This is seen to indicate that maintaining self-testing in multiple injection insulin treatment is a very real challenge to this regimen.
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| 8. |
- Anfelter, P, et al.
(författare)
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The effect of percutaneous dilatation of renal arterial stenosis on captopril renography in hypertension
- 2005
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Ingår i: Blood Pressure. - : Informa UK Limited. - 0803-7051 .- 1651-1999. ; 14:6, s. 359-365
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Tidskriftsartikel (refereegranskat)abstract
- Background. The clinical effects of percutaneous transluminal renal artery angioplasty (PTRA) in patients with renal vascular stenosis and hypertension is controversial. Methods. We consecutively recruited all 23 patients referred for evaluation of renovascular hypertension that eventually underwent unilateral PTRA, to be investigated with captopril MAG3 renography (CR), both before and after the endovascular procedure. Data were evaluated on an intention-to-treat basis. Results. We found that the relative MAG3 clearance of the stenotic kidney increased (from 29.9 ± 14% to 35.1 ± 14%, p=0.01) and that the creatinine levels fell following the intervention (from 110 ± 19 to 99 ± 17 μmol/l, p=0.0003). Blood pressure levels were also lowered (from 173 ± 32/93 ± 17 to 158 ± 31/86 ± 15 mmHg, p<0.006) while the mean number of anti-hypertensive drugs was unchanged following PTRA (2.9 ± 1.4 before and 2.8 ± 1.3 drugs after the intervention, respectively, p-0.6). Conclusion. This prospective trial showed statistically significant improvements of individual kidney function as measured by CR and blood pressure in subjects with suspected renovascular hypertension treated with PTRA. Although the endovascular procedure was found to be safe, the magniture of the absolute improvements was rather modest. © 2005 Taylor & Francis.
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| 9. |
- Bernada, P, et al.
(författare)
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Experimental study of the moisture distribution inside a pulp sheet using MRI. Part I: Principles of the MRI technique
- 1998
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Ingår i: Journal of Pulp and Paper Science. - 0826-6220. ; 24:12, s. 373-379
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Tidskriftsartikel (refereegranskat)abstract
- Due to its real advantages in terms of spatial resolution, the MRI technique has been chosen in order to study the internal moisture in 2.5 mm thick industrial pulp samples. A spin-echo sequence with very short echo-time (TE= 2 ms) has been designed to measure moisture content inside highly hygroscopic materials and was able to detect moisture even at very low moisture content (6%). In order to enhance the spin-lattice relaxation process, and thus reduce the total scanning time of an image, the pulp samples were wetted with solutions containing contrasting agents such as copper sulphate. The optimized value of the copper sulphate concentration was finally found to be around 0.5 gL(-1). A calibration curve was utilized to transform the signal intensity into moisture content values. A slight curvature probably due to shrinkage effects appears in the calibration curve.
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| 10. |
- Bernada, P, et al.
(författare)
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Experimental study of the moisture distribution inside a pulp sheet using MRI. Part II: Drying experiments
- 1998
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Ingår i: Journal of Pulp and Paper Science. - 0826-6220. ; 24:12, s. 380-387
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Tidskriftsartikel (refereegranskat)abstract
- A spin-echo MRI sequence has been employed to measure moisture profiles during the drying of industrial never-dried pulp samples and was able to detect moisture even at very low:moisture content (6%). For the first time, moisture profiles have been measured for pulp samples approximately 2.5 mm thick with a spatial resolution of 0.15 mm under quite severe drying temperatures (up to 87 degrees C). The results highlight strong moisture gradients near the sample surfaces and no classical constant mass flux period, which leads to the conclusion that the evaporation at the surface is never fully compensated by the internal capillary flow during our drying experiments.
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