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- Fransson, Emma, et al.
(författare)
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Diagnostic Efficacy of Rectal Suction Biopsy with Regard to Weight in Children Investigated for Hirschsprung's Disease
- 2022
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Ingår i: Children. - : MDPI AG. - 2227-9067. ; 9:2, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND/AIM: Diagnostic efficacy, defined as the percentage of rectal suction biopsy (RSB) specimens sufficient enough to determine the absence of ganglia cells in Hirschsprung's disease (HD) diagnosis, has been reported to be low, requiring repeated biopsies. The aim was to explore whether RSB diagnostic efficacy was influenced by the child's weight and to ascertain whether RSB efficacy differed between aganglionic and ganglionic tissue.MATERIALS AND METHODS: Efficacy analyses were conducted in a national HD-center's register on children 0-15 kg, examined between 2011-2019. First-time RSB diagnostic efficacy was correlated to the children's weight and final HD diagnosis.RESULTS: Among the 84 children who had first-time RSB, the overall diagnostic efficacy was 85% (71/84). The efficacy was higher among children weighing less than the identified cut-off of 9.0 kg (89% in 0-9.0 kg versus 62% in 9.01-15.0 kg, p = 0.026). Among children diagnosed with HD, 96% (26/27) weighed 0-9.0 kg. In this weight group, the diagnostic efficacy was lower in aganglionosis compared to ganglionosis (77%; 20/26 versus 96%; 43/45), p = 0.045).CONCLUSIONS: The RSB diagnostic efficacy was significantly higher in children weighing less than 9.0 kg and was less in aganglionic compared to ganglionic tissue. Therefore, weight can be useful to predict RSB diagnostic efficacy.
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| 2. |
- Hambraeus, Mette, et al.
(författare)
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Differential Activation of Immune Effector Processes in Mature Compared to Immature Sacrococcygeal Teratomas
- 2022
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Ingår i: Fetal and Pediatric Pathology. - : Informa UK Limited. - 1551-3815 .- 1551-3823. ; 41:3, s. 413-425
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Tidskriftsartikel (refereegranskat)abstract
- Objective: This study aims to characterize the molecular signatures of sacrococcygeal teratomas (SCTs). Methods: Three SCTs were analyzed with whole genome genotyping. RNA sequencing of 10 SCTs dominated by mature, immature and neuroglial elements was analyzed. Expression in SCT-samples with different elements were compared to each other and to a reference group of malignant pediatric tumors. Macrophages, T- and B-lymphocytes were detected by immunohistochemistry. Results: No chromosomal imbalances were detected. SCTs showed overexpression of genes involved in neurosignaling, DNA-binding molecules and pathways of early germ cells. Genes associated with immune effector processes were overexpressed in mature compared to immature SCTs, and immune cell infiltration was found predominantly around mature epithelial elements. Conclusion: The broad repertoire of histological elements in SCTs reflects differences in transcriptional regulation rather than differences in gene copy numbers. A paucity of immune response in immature SCTs may be a factor contributing to their uninhibited growth.
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| 3. |
- Tofft, Louise, et al.
(författare)
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Patient-reported physical and psychosocial significance of abdominal scarring in anorectal malformations
- 2022
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Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 1531-5037 .- 0022-3468. ; 57:10, s. 348-353
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Tidskriftsartikel (refereegranskat)abstract
- Background Abdominal scarring in patients with anorectal malformations (ARM) is a permanent visible sign of a chronic congenital condition. The study's aims were to assess the physical and psychosocial significance of abdominal scarring in ARM and to propose a scar treatment approach. Methods A patient- and observer reported cross-sectional study of ARM patients with previous colostomies surgically treated 1997-2015 with minimum 4 years' follow-up after stoma closure. A maximum of 3 patient-selected scars per patient were evaluated by a) the Patient and Observer Scar Assessment Scale (POSAS; 11= no symptoms, 110=worst symptoms), b) pictorial scar treatment assessment by a plastic surgeon, c) questionnaire evaluation of the scarring's psychosocial aspects, bowel- and urinary function and quality of life. Descriptive statistics were presented in median (range) and percent (%), and Pearson's r was used to evaluate linear correlations. Ethical approval and written consents were obtained. Results Twenty-seven patients (48% females) aged 12 (5-24) years old were included. Two (1-3) scars were evaluated per patient with a median POSAS score of 44 (15-78). Six patients (22%) reported scar pain, five (19%) scar pruritus and nine (33%) affected behavior, e.g. always wearing full-covered clothing in public places. Higher (worse) POSAS score and increasing age correlated (r = 0.40, p = 0.04). According to the plastic surgeon's assessment, 21 patients (78%) were suitable candidates for surgical scar treatment, among whom eight patients (30%) requested scar treatment. Conclusions Postoperative abdominal scarring should require attention in clinical ARM follow-up programs including potential corrective plastic surgery for selected patients.
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