| 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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| 11. |
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| 12. |
- Arnbjörnsson, E.
(författare)
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Invagination versus simple ligation of the caecal tip with reference to the strength of the caecal closure. An experimental study in the rat.
- 1986
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Ingår i: Annales Chirurgiae et Gynaecologiae. - 0355-9521. ; 75:3, s. 180-182
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Tidskriftsartikel (refereegranskat)abstract
- In an experimental model using the rat, the role of invagination and double invagination for efficient closure of the caecum was studied. A standardized opening of the tip of the caecum was closed in three different ways, thus placing the animals in three groups. I: Closed with simple ligation. II: Closed with simple ligation and a purse-string suture invagination. III: Closed with simple ligation and a purse-string suture and a Z-suture causing double invagination. The caecum was filled with methylene blue and obstructed by a balloon catheter introduced via a caecostomy. Pressure inside the obstructed caecum was measured through a channel opening at the tip of the catheter. The pressure was increased with 4 cm of water every 10 minutes. The maximal pressure reached before leakage of methylene blue from the caecal closure or a drop in pressure in the lumen, was seen to be significantly higher in the groups with invagination and double invagination of the caecal closure, respectively, when compared with those with simple ligation only. The experimental data suggest that the invagination is important for secure closure of the caecal wall.
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| 13. |
- Arnbjörnsson, E., et al.
(författare)
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Laparoscopy for nonpalpable testis in childhood : Is inguinal exploration necessary when vas and vessels are not seen?
- 1996
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Ingår i: European Journal of Pediatric Surgery. - : Georg Thieme Verlag KG. - 0939-7248 .- 1439-359X. ; 6:1, s. 7-9
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Tidskriftsartikel (refereegranskat)abstract
- A case of bilateral nonpalpable testes is described. Ultrasonography showed no testis. Laparoscopy revealed no intraabdominal testis, vas or vessels. Human chorionic gonadotrophine test suggested the presence of testicular tissue Computed tomography showed a testis present in each inguinal canal. Inguinal exploration confirmed the finding. This case stresses the importance of careful interpretation of the laparoscopic findings together with other diagnostic methods in localizing testicular tissue in patients with nonpalpable testes.
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| 14. |
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| 15. |
- Arnbjörnsson, E.
(författare)
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Normal and pathological bowel sound patterns.
- 1986
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Ingår i: Annales Chirurgiae et Gynaecologiae. - 0355-9521. ; 75:6, s. 314-318
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to determine the usefulness of auscultation of bowel sounds in evaluating patients with total and subtotal small intestinal obstruction and immediately after operation. The study was based on ten healthy volunteers, seven patients with documented mechanical obstruction, one patient with chronic subtotal mechanical obstruction and twelve patients undergoing an emergency laparotomy. Bowel sounds varied markedly in all individuals studied. The most striking finding in mechanical obstruction was the regular occurrence of clustered bowel sounds. These were defined as 3-10 regular sounds, occurring one every five seconds, preceded and followed by at least one minute of silence. The associated periods of quiescent motor activity may account for the unexpectedly reduced frequency and motility index after a meal in obstructed patients compared with normal subjects. The different bowel sound patterns occurred in the patient with subtotal mechanical obstruction before and after a meal respectively i.e. infrequent and low-amplitude bowel sounds and clustered bowel sounds. The technique is probably not more sensitive than radiological procedures, and the abnormalities that are detected by an auscultation of bowel sounds are not specific.
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| 16. |
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| 17. |
- Arnbjörnsson, E.
(författare)
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Postoperative acute appendicitis.
- 1984
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Ingår i: Annales Chirurgiae et Gynaecologiae. - 0355-9521. ; 73:5, s. 277-280
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Tidskriftsartikel (refereegranskat)abstract
- Six patients who developed acute appendicitis after surgical operations (cholecystectomy, choledocholithotomy, sigmoid resection, osteosynthesis of a hip fracture, abdomino-perineal resection) are described. The symptoms, signs and the results of investigations leading to relaparotomy are summarized. Possible causes of acute appendicitis after operation or trauma (luminal obstruction, bacterial infection, ischaemic changes and thrombosis) are discussed. As prevention is not possible, successful management of postoperative acute appendicitis includes an awareness of the complication and prompt surgical intervention.
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| 18. |
- Arnbjörnsson, E.
(författare)
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Relationship between the removal of the nonacute appendix and the menstrual cycle
- 1984
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Ingår i: Obstetrical and Gynecological Survey. - 0029-7828. ; 39:10, s. 658-660
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Tidskriftsartikel (refereegranskat)abstract
- The present author has investigated the frequency with which normal appendices are found at appendectomy in different phases of the menstrual cycle. The study is based on 504 female patients, 15–45 years of age, who were perated on for suspected acute appendicitis during the period from 1976 to 1982. The results are shown in Tables 1 and 2. The frequency of acute appendicitis in the luteal phase of the menstrual.
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| 19. |
- Arnbjörnsson, E.
(författare)
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Relationship between the removal of the nonacute appendix and the menstrual cycle.
- 1983
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Ingår i: Annales Chirurgiae et Gynaecologiae. - 0355-9521. ; 72:6, s. 329-331
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Tidskriftsartikel (refereegranskat)abstract
- The significantly higher incidence of removal of a normal appendix in females in the second, third and fourth decades of life for suspected acute appendicitis lead to a study of the frequency of appendicectomy and the peroperative findings at the time of surgery in patients in different phases of the menstrual cycle. The results showed that the frequency of acute appendicitis in the luteal phase was more than twice the frequency of the disease in the remaining half of the menstrual cycle. Further, there was a significantly higher proportion of gangrenous, perforated and normal appendices removed from patients in the menstrual and follicular phases of the menstrual cycle. The diseases mimicking acute appendicitis are tabulated. From these results it can be concluded that the female sex hormones might play an important aetiological role in the development of acute appendicitis or influence the inflammatory process in the appendix.
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| 20. |
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| 21. |
- Arnbjörnsson, E., et al.
(författare)
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The effect of intraperitoneal fluid on the prevention of small intestinal obstruction after appendicectomy. Preliminary results.
- 1983
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Ingår i: Annales Chirurgiae et Gynaecologiae. - 0355-9521. ; 72:5, s. 250-252
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Tidskriftsartikel (refereegranskat)abstract
- In 173 patients (study group), undergoing appendicectomy because of suspected acute appendicitis, normal saline solution, in the amount of 10 ml per 1000 g of patient weight, was injected into the peritoneal cavity before closing the incision. A control group of patients undergoing appendicectomy was selected, matched for age and sex. The mean observation period was five years for both groups. One of the patients in the study group and two patients in the control group developed small intestinal obstruction due to adhesions which led to relaparotomy. The difference was not statistically significant. Because of the rarity of this complication after appendicectomy (1-2%) and the long elapse of time reported from the appendicectomy to the development of the small intestinal obstruction due to adhesions, the group of 173 patients in too small and the observation period of five years too short to enable a conclusion to be made so far. Further follow-up of the patients in this study and a further investigation is necessary.
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| 22. |
- Arnbjörnsson, E., et al.
(författare)
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The role of auscultation and registration of bowel sounds in the diagnosis of acute appendicitis.
- 1983
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Ingår i: Annales Chirurgiae et Gynaecologiae. - 0355-9521. ; 72:6, s. 324-328
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Tidskriftsartikel (refereegranskat)abstract
- The study described was designed to evaluate the role of auscultation and registration of bowel sounds in the diagnosis of acute appendicitis. In 37 patients with suspected acute appendicitis undergoing appendicectomy the bowel sounds were registered twice pre-operatively and once on the postoperative day. The results show that single registration of bowel sounds is rarely diagnostic, but repeated examinations with the method used in this study might provide an additional factor to reaching a diagnosis. However, the results are difficult to apply directly to the clinical situation, and further evaluation of this method, as well as an improvement of the technical equipment used, is essential.
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| 23. |
- Granéli, C., et al.
(författare)
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Urinary tract anomalies and urinary tract dysfunction in children with Hirschsprung disease—Is follow-up indicated?
- 2019
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Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468. ; 54:10, s. 2012-2016
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Tidskriftsartikel (refereegranskat)abstract
- Background/Purpose: Urinary tract function in children with Hirschsprung disease (HD) is rarely considered. Aim: to evaluate the prevalence of urinary tract anomalies and dysfunction in children with HD compared to controls. Methods: This was an observational cross sectional case–control study. Children with HD who underwent transanal endorectal pull-through technique (TERPT) from 2005 to 2017 were invited to participate. Ultrasound of the urinary tract was performed postoperatively. Children > 4 years were asked to answer a urinary tract function questionnaire. Controls were age-matched healthy children. Ethical approval was obtained. Results: Seventy two children with HD and TERPT were included. Ultrasound was performed in 58 children (83%) post-TERPT. Ten anomalies were diagnosed in six children (10%). Structural anomalies included abnormal kidney size (7%), renal agenesis (2%), prominent calyces (2%) and renal pelvis anomaly (25). Probable acquired anomalies included hydronephrosis (2%), hydroureter (2%) and parenchymal damage (2%). One child had a prior nephrectomy owing to a Wilms’ tumor. All 37 children > 4 years (27 boys and 10 girls), median aged 8 years (range 4–12), answered the questionnaire as did 284 healthy controls (144 boys and 140 girls). Boys with HD reported a higher frequency of enuresis: 65% versus 9% (p = 0.001) and urinary tract infections: 18% versus 3% (p = 0.012). Girls with HD reported enuresis more frequently (60%) than healthy girls (7%) (p = 0.001). Children with HD with constipation reported enuresis more frequently (p = 0.038). Conclusions: Urinary tract anomalies and dysfunction deserve attention in the follow-up of children with HD. We suggest screening for urinary tract anomalies and urinary tract symptoms in follow-up of children with HD. Type of study: Treatment study. Level: III.
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| 24. |
- Kullendorff, Carl-Magnus, et al.
(författare)
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Stenting of the biliary tract in children.
- 2002
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Ingår i: European Journal of Pediatric Surgery. - : Georg Thieme Verlag KG. - 1439-359X .- 0939-7248. ; 12:3, s. 199-202
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Tidskriftsartikel (refereegranskat)abstract
- We report on the technique and results of percutaneous transhepatic biliary drainage (PTBD) in children with obstructive jaundice. Three patients aged 8 - 15 years were treated, two of them for a benign and one for a malignant stricture. Endoscopic treatment was not possible and all the PTBD procedures were done under general anaesthesia. One of the children was treated with external-internal drainage, and the two others by insertion of a plastic endoprosthesis. There were no immediate complications. The PTBD had a good palliative effect in two cases, and in one case surgical treatment was necessary. We conclude that PTBD is a safe modality and that it can be used in children for the relief of obstructive jaundice.
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| 25. |
- Mikaelsson, C., et al.
(författare)
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The value of C-reactive protein (CRP) determinations in patients with suspected acute appendicitis.
- 1984
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Ingår i: Annales Chirurgiae et Gynaecologiae. - 0355-9521. ; 73:5, s. 281-284
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Tidskriftsartikel (refereegranskat)abstract
- The clinical usefulness of the preoperative determination of C-Reactive protein (CRP) in patients with suspected acute appendicitis was studied in 156 consecutive patients undergoing acute appendicectomy. The CRP values were found to increase with an advancing stage of the appendiceal inflammation found at operation and the length of the preoperative phase of illness. Eight out of 66 patients with a phlegmonous appendix found at operation showed no signs of bacterial infection, as revealed by an increased C-Reactive protein level. These results suggest that a preoperative quantitative determination of the C-Reactive protein in patients with suspected acute appendicitis might add a valuable parameter to the laboratory profile in this condition and can be used for the selection of those patients who would benefit from a preoperatively administered antibiotic prophylaxis. Furthermore, these results might support the theory that an obstruction of the appendix lumen is the most important factor in the genesis of acute appendicitis.
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| 26. |
- 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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| 27. |
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