| 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. |
- Ekblad, E., et al.
(författare)
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Neuropeptides in the human appendix - Distribution and motor effects
- 1989
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Ingår i: Digestive Diseases and Sciences. - 0163-2116. ; 34:8, s. 1217-1230
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Tidskriftsartikel (refereegranskat)abstract
- At present our knowledge of enteric peptide-containing neurons in man is limited. In this study we have used human appendices removed at surgery to examine the peptidergic innervation by immunocytochemistry, immunochemistry, and pharmacological in vitro experiments. Immunocytochemistry revealed a variety of peptide-containing nerve fiber populations in the human appendix. VIP/PHI-, VIP/PHI/NPY-, SP/NKA-, galanin-, and enkephalin-containing nerve fibers were numerous; CGRP- and GRP- containing nerve fibers were moderate in number, while only scattered NPY-, enkephalin/BAM-, and somatostatin-containing nerve fibers could be found. No CCK-, dynorphin A-, or dynorphin B- immunoreactive nerve fibers could be detected. The coexistence of VIP/PHI, SP/NKA, and enkaphalin/BAM can be anticipated from the known sequence of their respective precursors. However, the coexistence of VIP/PHI and NPY was unexpected but corroborates previous observations in other species. Interestingly, SP and CGRP did not seem to coexist in nerve fibers of the human appendix. Immunochemistry (RIA and HPLC) confirmed the presence of VIP, NPY, SP, galanin, CGRP, GRP, enkephalin, and somatostatin. Motor activity studies suggest that acetylcholine plays a major role in the electrically evoked contractions, since atropine suppressed these contractions. Galanin (10-8-10-6 M) and GRP (10-9-10-7 M) caused concentration-dependent contractions that were unaffected by tetrodotoxin and thus probably reflect a direct action on smooth muscle receptors. GRP (10-9 M) enhanced the electrically induced cholinergic contraction (to 193±24%), while met-enkephalin (10-6 M) reduced it (to 54±6%). Both peptides failed to affect the contractile response to exogenous acetylcholine and probably act to modulate the release of acetylcholine. NPY, VIP, CGRP, SP, and somatostatin failed to induce contraction or to affect the electrically evoked contractions.
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| 4. |
- Jönsson, P. ‐E, et al.
(författare)
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Treatment of malignant melanoma with dacarbazin (DTIC‐DOME) with special reference to urinary excretion of 5‐S‐cysteinyldopa
- 1980
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Ingår i: Cancer. - 0008-543X. ; 45:2, s. 245-248
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Tidskriftsartikel (refereegranskat)abstract
- Seventeen patients were given DTIC, 200 mg/m2/day in five‐day courses every four to six weeks. In four patients (stage II) treated on an adjuvant basis, tumor recurrence has been verified in three. Four of the palliatively treated patients were also given DTIC by regional intra‐arterial infusion with minimal positive tumor effect and minimal toxicity. 5‐S‐cysteinyldopa excretion in urine was checked continuously in all patients. Tumor recurrence was revealed in two patients given DTIC on an adjuvant basis three and four months before clinical signs of tumor. In the palliatively treated patients, 5‐S‐cysteinyldopa excretion increased in 5/6 patients judged to have stable disease, before tumor progression was clinically detectable. The use of 5‐S‐cysteinyldopa examination is a valuable adjunct to the follow‐up of the effect of DTIC therapy in melanoma patients.
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| 5. |
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| 6. |
- Arnbjörnsson, E., et al.
(författare)
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Appendicectomy in the elderly, incidence and operative findings.
- 1983
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Ingår i: Annales Chirurgiae et Gynaecologiae. - 0355-9521. ; 72:4, s. 223-228
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Tidskriftsartikel (refereegranskat)abstract
- The incidence during the last decades of acute appendicitis and the number of appendicectomies in the elderly, 60 years of age and older were studied. In addition, the incidence of the disease and of appendicectomy and the preoperative findings were studied in a well defined population during the twelve year period from 1969 to 1980. The results showed that there was no increase in the sex- and age-specific incidence of acute appendicitis in the elderly. However, there has been a significant decrease in the incidence of acute appendicitis in the elderly during the last four decades. Furthermore, a significant difference was found in the findings in the elderly operated upon because of suspected acute appendicitis compared to the younger age groups. The percentage of perforated appendices and normal appendices was significantly higher in the elderly. This difference might be of importance to the surgeon in his approach to an elderly patient admitted because of suspected acute appendicitis.
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| 7. |
- Arnbjörnsson, E., et al.
(författare)
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Computed Tomography and Magnetic Resonance Tomography Findings in Children Operated for Anal Atresia
- 1990
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Ingår i: European Journal of Pediatric Surgery. - : Georg Thieme Verlag KG. - 0939-7248 .- 1439-359X. ; 45:3, s. 178-181
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Tidskriftsartikel (refereegranskat)abstract
- Computerised tomography and magnetic resonance tomography were performed in nine faecally incontinent patients more than eight years after rectoplasty for high imperforate anus. No statistically significant correlation was found between function, i. e. degree of faecal incontinence, and anatomical findings. Thus, in spite of a detailed demonstration of the post-operative anatomy, the information does not seem to be directly applicable in indicating a way to reoperate for faecal incontinence in this group of patients.
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| 8. |
- Arnbjörnsson, E., et al.
(författare)
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Computed tomography of ano-rectal anomalies : Correlation between radiologic findings and clinical evaluation of faecal incontinence
- 1989
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Ingår i: Acta Radiologica. - : SAGE Publications. - 0284-1851 .- 1600-0455. ; 30:1, s. 25-28
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Tidskriftsartikel (refereegranskat)abstract
- Computed tomography (CT) was performed in 9 patients with faecal incontinence more than 8 years after rectoplasty for high imperforate anus. The radiologic findings were correlated with the clinical evaluation of faecal incontinence. No statistically significant correlation was found between function and anatomic findings as demonstrated by CT. Thus, although CT demonstrates the post-operative anatomy in a detailed way, the information does not seem to be directly applicable when selecting the type of reoperation for faecal incontinence.
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| 9. |
- Arnbjörnsson, E., et al.
(författare)
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Congenital Diaphragmatic Hernia Presenting as Acute Intestinal Obstruction
- 1992
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Ingår i: European Journal of Pediatric Surgery. - : Georg Thieme Verlag KG. - 0939-7248 .- 1439-359X. ; 2:1, s. 39-41
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Tidskriftsartikel (refereegranskat)abstract
- This paper reports on two cases of incarcerated congenital diaphragmatic hernia presenting as intestinal obstruction without any signs or symptoms or respiratory tract illness.
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| 10. |
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