| 1. |
- Vogel, G. F., et al.
(författare)
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
- 2023
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 25:6
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and determine the role of cysteine supplementation in its treatment. Methods: Individuals with biallelic (likely) pathogenic variants in TRMU were studied within an international retrospective collection of de-identified patient data. Results: In 62 individuals, including 30 previously unreported cases, we described 47 (likely) pathogenic TRMU variants, of which 17 were novel, and 1 intragenic deletion. Of these 62 individuals, 42 were alive at a median age of 6.8 (0.6-22) years after a median follow-up of 3.6 (0.1-22) years. The most frequent finding, occurring in all but 2 individuals, was liver involvement. ALF occurred only in the first year of life and was reported in 43 of 62 individuals; 11 of whom received liver transplantation. Loss-of-function TRMU variants were associated with poor survival. Supplementation with at least 1 cysteine source, typically N-acetylcysteine, improved survival significantly. Neurodevelopmental delay was observed in 11 individuals and persisted in 4 of the survivors, but we were unable to determine whether this was a primary or a secondary consequence of TRMU deficiency. Conclusion: In most patients, TRMU-associated ALF was a transient, reversible disease and cysteine supplementation improved survival.
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| 2. |
- Scaglia, M, et al.
(författare)
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[The functional and manometric results of 2 surgical methods of posterior abdominal rectopexy]. : Risultati funzionali e manometrici di due metodi chirurgici di rettopessi addominale posteriore.
- 1994
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Ingår i: Minerva chirurgica. - 0026-4733. ; 49:5, s. 383-92
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Tidskriftsartikel (refereegranskat)abstract
- Functional changes after posterior abdominal rectopexy for the treatment of rectal prolapse are not fully understood. We studied the effects of Wells' or Ripstein's rectopexy on functional characteristics as related to anal sphincter function, rectal volume and sensory function in 31 patients with complete or internal rectal prolapse. We have observed an improvement of continence over 70% in both groups. However, an absent or a decreased call to stool, constipation and evacuation difficulties are the aftermath of Wells' rectopexy, while these complaints appear basically unaffected by Ripstein's technique. Maximal squeeze pressure was slightly increased after Ripstein's rectopexy, whereas no significant effects were found on anal pressures. Postoperatively the rectal capacity was reduced by Well's procedure (p < 0.05), while no significant changes were observed with Ripstein's operation. After the Wells procedure patients developed at the threshold for the relaxation of the internal sphincter progressively lower rectal volumes, reaching one year after rectopexy the statistical significance. Sensory thresholds for sense of filling and urge were significantly raised after Wells' rectopexy even one year after operation, whereas after Ripstein's operation sense of filling was not significantly affected and while sense of urge was increased early postoperatively, it was not significantly changed at one hear postoperative control. In conclusion, when fecal incontinence appears associated to a rectal prolapse has good chances to improve postoperatively. Preoperative evacuation difficulties seem to be unaffected by a posterior abdominal rectopexy, Wells or Ripstein, but an extensive dissection of the rectum with the division of the lateral stalks, as it is performed in Wells' operation, seems to be a procedure that can create a further burden of problems the the patient and it seems coupled to a manovolumetric elevation of rectal sensory thresholds.
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