| 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. |
- Delaini, G G, et al.
(författare)
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[Abdominal rectopexy in the treatment of rectal prolapse: how to foresee the functional result]. : Rettopessia addominale per il trattamento del prolasso del retto: come prevedere il risultato funzionale.
- 1994
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Ingår i: Annali italiani di chirurgia. - 0003-469X. ; 65:2, s. 183-7
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Tidskriftsartikel (refereegranskat)abstract
- 21 patients (19 women) who underwent rectal prolapse repair were prospectively studied. At the one year follow-up, 6 of the eleven incontinent patients (54 per cent) regained full continence and while three of the remaining 5 patients improved they still referred occasional imperfection of continence. Resting anal pressure and maximal squeeze pressure were both significantly lower in the five patients who remained incontinent, 23 (17-31) mm Hg vs 50 (31-52) mm Hg (p < = 0.02) and 52 (17-75) mm Hg vs 108 (89-110) mm Hg (p < = 0.02), respectively. Moreover the manometric results showed evidence that in patients who remained incontinent, the anal pressure in response to rectal distention, was significantly lower than patients who regained continence (p < = 0.05) both before and after operation. We conclude that incontinent patients with rectal prolapse who exhibit a markedly low minimal residual anal pressure on recto-anal reflex inhibition are less likely to improve after rectopexy and that this preoperative test may be a useful predictor.
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| 3. |
- Delaini, G G, et al.
(författare)
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Is an ileal pouch an alternative for patients requiring surgery for Crohn's proctocolitis?
- 2005
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Ingår i: Techniques in coloproctology. - : Springer Science and Business Media LLC. - 1123-6337 .- 1128-045X. ; 9:3, s. 222-4
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Tidskriftsartikel (refereegranskat)abstract
- Most surgeons consider Crohn's colitis to be an absolute contraindication for a continent ileostomy, due to high complication and failure rates. This opinion may, however, be erroneous. The results may appear poor when compared with those after pouch surgery in patients with ulcerative colitis (UC), but the matter may well appear in a different light if the pouch patients are compared with Crohn's colitis patients who have had a proctocolectomy and a conventional ileostomy.We assessed the long-term outcomes in a series of patients with Crohn's colitis who had a proctocolectomy and a continent ileostomy (59 patients) or a conventional ileostomy (57 patients). The median follow-up time was 24 years for the first group and 27 years for the second group.The outcomes in the two groups of patients were largely similar regarding both mortality and morbidity; the rates of recurrent disease and reoperation with loss of small bowel were also similar between groups.The possibility of having a continent ileostomy, thereby avoiding a conventional ileostomy-even if only for a limited number of years--may be an attractive option for young, highly motivated patients.
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| 4. |
- Delaini, G G, et al.
(författare)
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The ileoanal pouch procedure in the long-term perspective: a critical review.
- 2005
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Ingår i: Techniques in coloproctology. - : Springer Science and Business Media LLC. - 1123-6337 .- 1128-045X. ; 9:3, s. 187-92
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Tidskriftsartikel (refereegranskat)abstract
- An ileo-pouch anal anastomosis (IPAA) has become the gold standard procedure for ulcerative colitis and familial adenomatous polyposis. Clinical results on the pelvic pouch procedure have often been encouraging; when confronted with the different surgical options, the majority of patients select IPAA as the best operation. However, even if IPAA is a great innovation, it is by no means the first choice for all patients. For patients old enough to join in a responsible discussion, the pros and cons of the various operations must be carefully described; the choice of surgical procedure must meet the patient's wishes and appear soundly based to the surgeon. The young age of most patients has to be considered and a long follow-up time is required to establish whether and, if so, to what extent the operation may adversely impact the patient's continence, sex life, fertility, and quality of life. The risk of cancer transformation in the residual rectal mucosa in the muscular or columnar cuff is another important factor that may influence the eventual decision. This article critically reviews our experience and the literature.
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| 5. |
- Hultén, Leif, et al.
(författare)
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Sacral nerve stimulation (SNS), posterior tibial nerve stimulation (PTNS) or acupuncture for the treatment for fecal incontinence : a clinical commentary
- 2013
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Ingår i: Techniques in Coloproctology. - Milan, Italy : Springer Milan. - 1123-6337 .- 1128-045X. ; 17:5, s. 589-592
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Tidskriftsartikel (refereegranskat)abstract
- Sacral nerve stimulation (SNS) has become an established therapy worldwide for the treatment for fecal incontinence. A large number of papers have been published over the years, and SNS is generally considered very effective with improved continence and quality of life for most patients. However, the results are mostly expressed in the semi-quantitative terms, that is, patients' diaries translated into score points. The clinical value of SNS is questionable, especially as the patient groups are usually small and/or etiologically heterogenic and the follow-up period mostly short. The Health Technology Assessment organization in the west region of Sweden has recently evaluated the SNS with regard to evidence, efficacy and risks. Economic and ethical aspects raise serious questions on this expensive and not entirely risk-free treatment in routine medical care. Similar criticism has also been raised by other reviewers proposing a more thorough scientific assessment with well-designed randomized trials and comparison with other similar methods of treatment.
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| 6. |
- Scaglia, M, et al.
(författare)
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Injection treatment of hemorrhoids in patients with acquired immunodeficiency syndrome.
- 2001
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Ingår i: Diseases of the colon and rectum. - 0012-3706. ; 44:3, s. 401-4
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Tidskriftsartikel (refereegranskat)abstract
- Patients with acquired immunodeficiency syndrome are often in poor general physical condition. Diarrhea and bleeding hemorrhoids frequently contribute to the morbidity, and patients with such problems cause an increasing load on many outpatient clinics.Twenty-two patients (17 males) with acquired immunodeficiency syndrome had injection treatment for bleeding second-degree to fourth-degree hemorrhoids according to standard outpatient clinic routines. Mean follow-up was 24 months.No complications were recorded. The treatment was successful in all patients, and no hemorrhoidectomy was necessary. Nineteen patients improved after their first injection, whereas 3 patients required two to six weeks repeated treatments to improve. Four subjects with the longer follow-up (4 years) showed an improvement lasting 12 to 18 months and then required one to two treatments per year to stop recurrent bleeding.Because of their poor general condition and poor wound healing, a conservative approach is preferable to avoid a formal hemorrhoidectomy in patients with acquired immunodeficiency syndrome. Sclerotherapy seems to be an attractive alternative.
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| 7. |
- 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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