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• Gastrointestinal involvement is common in Duchenne Muscular Dystrophy. • Bowel dysmotility can manifest as life-threatening pseudo-obstruction or volvulus. • Cardiorespiratory co-morbidities can make surgical interventions high-risk. • Parenteral nutritional has a role in the management of this bowel dysmotility. Duchenne muscular dystrophy is a progressive muscle wasting disease caused by pathogenic variants in DMD. Gastrointestinal involvement is increasingly recognised in older patients and can manifest as life-threatening bowel dysmotility. We describe a series of adults with Duchenne muscular dystrophy who developed either severe colonic pseudo-obstruction or sigmoid volvulus requiring urgent assessment and intervention. The presentations varied in their clinical picture and outcomes, but together highlight the complexity of managing gastrointestinal complications in this cohort of patients. Key considerations include pre-existing cardiorespiratory compromise and the increased risk associated with surgery and general anaesthesia. We also outline a role for home parenteral nutrition in the long-term management of associated bowel dysmotility. [ABSTRACT FROM AUTHOR]

L'insuffisance intestinale chronique (IIC) est une situation clinique rare dont la principale cause est le syndrome de grêle court (SGC). La pseudo-obstruction intestinale chronique (POIC) est également une cause d'IIC. La nutrition parentérale à domicile (NPAD) a permis d'augmenter la survie et la qualité de vie des patients ayant une insuffisance intestinale chronique. Plusieurs grossesses sous NPAD ont été décrites. L'objectif de cette revue est de faire la synthèse sur l'état des connaissances sur les grossesses en NPAD, et de faire le point sur les adaptations nécessaires des traitements et de la nutrition. En NPAD prolongée, les grossesses sont donc possibles, mais le taux de complications maternelles liées à la maladie sous-jacente et à la NP est élevé. Un suivi rapproché et une préparation à la grossesse doivent être réalisés afin de prévenir et traiter d'éventuelles carences et leurs effets délétères. Chronic intestinal failure is a rare disease and short bowel syndrome is its main etiology. Chronic intestinal pseudo obstruction (CIPO) is also a cause of IIC. Home parenteral nutrition (HPN) has improved survival and quality of life of patients with IIC. Some pregnancy during HPN have been reported. The aim of this review was to summarize the state of knowledge on pregnancy during HPN, and to resume the needed adaptations of treatments and PN. During long term HPN, pregnancy are possible but the complication rate, due to PN and to underlying disease, is high. A close follow-up end pregnancy preparation are necessary, in order to prevent and treat some deficiencies and their deleterious effects. [ABSTRACT FROM AUTHOR]

We report a case of vanishing gastroschisis visualized by antenatal ultrasound with a 7-year long term follow-up. Currently, the child is still dependent on daily parenteral nutrition with no signs of hepatotoxicity. To our knowledge, it's the fourth case with a long-term follow-up. Vanishing gastroschisis is a rare complication of gastroschisis. However, physicians should be aware of it because its prognosis is worse than classical gastroschisis. When a vanishing gastroschisis is visualized or suspected by antenatal ultrasound, prenatal counseling is required with explanations about the risk of short bowel syndrome, the need of parenteral nutrition and related complications (inflammatory colitis, sepsis, liver failure and organ transplant). Mortality rate was initially around 93%, and dropped to 27% after the years 2000 (versus 10% for classical gastroschisis). After birth, all children will require surgery, and sometimes autologous gastro-intestinal reconstruction. Most survivors (68%) could be taken off the TPN. Unfortunately, long-term outcomes for children with vanishing gastroschisis are still missing in current literature. [ABSTRACT FROM AUTHOR]

Background Since short bowel syndrome (SBS) patients face life-threatening conditions, the development of therapeutic strategies to induce intestinal adaptation has been investigated. Ghrelin, a ligand of growth hormone (GH) secretagogue-receptor that stimulates the release of GH and insulin like growth factor-1 (IGF-1), has several pleiotropic effects. We investigated whether ghrelin induces intestinal adaptation in parenterally fed rats with SBS. Methods Sprague-Dawley rats underwent venous catheterization and were divided into 3 groups: those receiving 90% small bowel resection while leaving the proximal jejunum and distal ileum (90% SBR) with TPN (SBS/TPN group), those receiving 90% SBR with TPN + ghrelin (SBS/TPN/ghrelin group), and those receiving sham operation and fed chow (sham group). Ghrelin was administered intravenously at 10 μg/kg/day. On Day 13, the rats were euthanized and the small intestine harvested, and the histology and crypt cell proliferation rates (CCPR), apoptosis, and nutrient transporter protein levels were analyzed and the plasma hormones were measured. Results The villus height and crypt depth of the ileum in the SBS/TPN/ghrelin group were significantly higher than in the SBS/TPN group. The CCPR of the jejunum and the ileum significantly increased by the administration of ghrelin; however, the apoptosis rates did not significantly differ between the SBS/TPN and SBS/TPN/ghrelin groups. Significant differences did not exist in the plasma IGF-1 and nutrient transporter protein levels among three groups. Conclusions The intravenous administration of ghrelin stimulated the morphological intestinal adaptation of the ileum to a greater degree than the jejunum due to the direct effect of ghrelin. [ABSTRACT FROM AUTHOR]

Résumé But/Objectif En raison de l’hypersécrétion gastrique et/ou d’importantes pertes intestinales, certains patients nécessitent un apport en ranitidine dans leur mélange de nutrition parentérale (NP). L’objectif était de réévaluer l’intérêt clinique de la ranitidine dans les prescriptions de NP suite à des tensions d’approvisionnement en ranitidine injectable. Patients et méthodes Un suivi clinique prospectif des patients en NP à domicile (NPAD) a été réalisé pendant 4 mois selon trois critères : l’arrêt, la substitution ou le maintien de la ranitidine dans les prescriptions de NP. Résultats Parmi les 109 patients en NPAD, 64 (59 %) bénéficiaient de ranitidine dans leur NP. L’arrêt définitif, tenté chez 23 patients (36 %), s’est soldé par deux échecs avec retour à la prescription initiale. Le relais per os a concerné 22 patients (34 %) et a conduit à quatre échecs. Pour ces 6 patients, des nausées/vomissements et des accélérations du transit intestinal ont été observés. Ces effets secondaires ont concerné des patients atteints d’un syndrome du grêle court (SGC). Enfin, chez 19 patients (30 %) atteint soit d’un SGC sévère, d’une Maladie de Hirschsprung étendue ou d’une Pseudo obstruction intestinale chronique, la ranitidine a dû être maintenue. Conclusion Une réévaluation des prescriptions a été menée en respectant les profils cliniques particuliers des patients avec l’arrêt d’un grand nombre de prescription de ranitidine. Cependant, la ranitidine reste indispensable chez les patients présentant de graves troubles digestifs (nausées, vomissements, pertes élevées). Néanmoins, la voie intraveineuse peut être relayée par la voie orale quand cela est possible, associée à un suivi clinique. Objectives Because of gastric hypersecretion and/or high water-electrolytes losses, some patients require ranitidine in their parenteral nutrition (PN) mixture. Our goal was to reassess the clinical utility of adding ranitidine in NP mixtures following tensions in the supply of ranitidine for parenteral injection. Patients and methods A prospective clinical follow-up of patients on home parenteral nutrition (HPN) over a period of 4 months was carried out according to three criteria: “stopping”, “substituting” or “maintaining” ranitidine in NP prescriptions. Results At the beginning of the study, 109 patients were followed on HPN program. Most of them (48 %) having short bowel syndrome (SBS). Initially, 64 patients were receiving ranitidine in association with PN. Attempt to stop IV Ranitidine was achieved in 23 patients (36 %): 2 failures led to reverse to the initial prescription. The change to the oral route involved 22 patients (34 %) with 4 failures. These failures occurred shortly after modifications, with nausea/vomiting, increased water-electrolytes losses in SBS patients. On 19 patients (30 %), ranitidine was maintained, due to insufficient intestinal absorption from children with extreme SBS, extended Hirschsprung Disease, and Chronic Intestinal Pseudo Obstruction. Conclusion A review of ranitidine prescriptions was conducted according to specific clinical profiles of patients. Ranitidine appears necessary for patients with severe digestive disorders. Nevertheless, an oral administration of ranitidine can be considered with clinical monitoring. [ABSTRACT FROM AUTHOR]

Background and aims Patients on parenteral nutrition for short bowel syndrome (SBS) have a high risk of thrombotic complications and are often treated with parenteral anticoagulation. Direct oral anticoagulants are absorbed proximally in the digestive tract and may represent alternative regimens in selected SBS patients. In our pilot study, we provided pharmacokinetics parameters of dabigatran etexilate and rivaroxaban in this setting and compared peak (Cmax), trough (Ctrough) concentrations, and areas-under-the-concentration-time-curve (AUC 0 − t ) to reference values retrieved from phase I-III studies. Methods We enrolled 6 adults with a remaining small bowel length ≤ 200 cm, normal renal/hepatic function, and intact stomach. In our crossover study, patients were exposed to twice-daily dabigatran etexilate 150 mg and once-daily rivaroxaban 20 mg. Results After 5 days of dabigatran dosing, Ctrough and Cmax geometric means were 39 μg/L (90% CI: 23–66) and 88 μg/L (90% CI: 56–137), respectively; AUC 0–12 h was 958 μg ∗ h/L (90% CI: 635–1445). After 5 days of rivaroxaban dosing, Ctrough and Cmax geometric means were 9 μg/L (90% CI: 1–71) and 167 μg/L (90% CI: 102–276), respectively; AUC 0–24 h was 1720 μg ∗ h/L (90% CI: 899–3300). Absorption was negligible in one patient with ultra-short (~ 15 cm) bowel. For dabigatran, Cmax ratio was 0.57 (SD 0.33) and Ctrough ratio was 0.35 (SD 0.44). For rivaroxaban, the mean observed-to-reference ratios AUC 0–24 h and Cmax ratios were 0.73 (SD 0.32) and 0.76 (SD 0.34), respectively. Conclusions While in SBS patients there is some absorption of the oral anticoagulants dabigatran etexilate and rivaroxaban, it appears to be lower than reference values. Plasma drug levels showed significant inter-individual variability. [ABSTRACT FROM AUTHOR]

Short bowel syndrome is a severe malabsorption disorder, and prolonged parenteral nutrition is essential for survival in some cases. Among the undesirable effects of long-term parenteral nutrition is an increase in proinflammatory cytokines. The aim of the present study was to measure the serum levels of interleukin-6, interleukin-10, tumor necrosis factor alpha, and transforming growth factor beta, in patients with short bowel syndrome on cyclic parenteral nutrition and patients who had previously received but no longer require parenteral nutrition. The study was cross-sectional and observational. Three groups were studied as follows: Parenteral nutrition group, 9 patients with short bowel syndrome that receive cyclic parenteral nutrition; Oral nutrition group, 10 patients with the same syndrome who had been weaned off parenteral nutrition for at least 1 year prior to the study; Control group, 13 healthy adults, matched for age and sex to parenteral and oral groups. The following data were collected: age, tobacco use, drug therapies, dietary intake, body weight, height, blood collection. All interleukins were significantly higher in the parenteral group compared with the control group as follows: interleukin-6: 22 ± 19 vs 1.5 ± 1.4 pg/mL, P = .0002; transforming growth factor β : 854 ± 204 vs 607 ± 280 pg/mL, P = .04; interleukin-10: 8 ± 37 vs 0.6 ± 4, P = .03; tumor necrosis factor α : 20 ± 8 vs 8 ± 4 pg/mL, P < .0001. We concluded that parenteral nutrition in short bowel syndrome patients, regardless of its duration, increases serum proinflammatory cytokines. [ABSTRACT FROM AUTHOR]

Aim: Spiral Intestinal Lengthening and Tailoring (SILT) invented by our team is a new technique that offers minimal mesenteric handling and a more physiological result compared to the STEP procedure. Its feasibility has been tested in animal models and now we report the first successful human application in extreme short bowel syndrome. Materials and Methods: A 3-year-old girl suffered subtotal loss of her small bowel and ileocaecal junction as a result of midgut volvulus. Only 15 cm of jejunum remained intact. Parenteral nutrition (PN), gastrostomy feeding, controlled bowel expansion and SILT procedure were applied. Results: The length of the jejunum increased from the initial 15 to 22 cm during 12 months of PN and bowel expansion. Eleven centimeter of distended bowel was further lengthened up to 20 cm by SILT giving a total small bowel length of 31 cm. Oral and gastrostomy feedings were commenced 5 days postoperatively. There were no surgical complications 6 months after the procedure. The patient's liver function was preserved, she was weaned off PN, discharged from hospital, but remained on gastrostomy top up feeding. The net weight gain of the patient was 1,800 g 6 months after the procedure. Conclusion: SILT procedure is a safe and feasible technique for human intestinal lengthening and tailoring. [ABSTRACT FROM AUTHOR]

Résumé: L’interruption de l’intestin grêle par une entérostomie double peut entraîner un syndrome de grêle court de type 1 responsable d’une insuffisance intestinale sévère qui nécessite des apports parentéraux pour couvrir les besoins et compenser les pertes. La réinstillation du chyme est une technique qui rétablit la continuité fonctionnelle de l’intestin anatomiquement présent grâce à une circulation extracorporelle du chyme. Recueilli à sa sortie de la stomie afférente, le chyme est réinjecté immédiatement dans l’intestin efférent hors circuit, sans manipulation, grâce à une pompe spécifique. Les patients se nourrissent alors de ce qu’ils mangent, n’ont plus de pertes hydro-électrolytiques et les apports parentéraux sont arrêtés en quelques jours. La réinstillation du chyme est réalisable à domicile avec des pompes portables spécifiques, chez des patients volontaires qui reçoivent une éducation thérapeutique particulière, en attendant le rétablissement chirurgical de la continuité intestinale. [ABSTRACT FROM AUTHOR]

Résumé: Le traitement de l’insuffisance intestinale chronique, dont la principale cause est le syndrome de grêle court, repose sur la nutrition parentérale prolongée. La maladie hépatique, par son évolution possible vers la cirrhose, est la plus menaçante des complications associées à l’insuffisance intestinale chronique. Ses facteurs de risque sont associés aux modalités de la nutrition parentérale et à la maladie causale de l’insuffisance intestinale chronique. Le repos digestif et le syndrome de grêle court sont des facteurs de risque de lithiases biliaires. La stéatose est une lésion dont l’origine est principalement nutritionnelle (excès de glucose et/ou de lipides, nutrition parentérale continue). Les principaux facteurs de risque de cholestase sont la résection intestinale, la pullulation bactérienne intestinale et les infections, les apports d’acides gras polyinsaturés à longue chaîne ω-6 et de phytostérols par certaines émulsions lipidiques. L’inflammation chronique hépatique, autre facteur de risque de maladie hépatique, peut être secondaire à des infections récidivantes, la translocation bactérienne ou toxinique, l’apport d’acides gras polyinsaturés à longue chaîne ω-6 (précurseurs de médiateurs de l’inflammation). La fibrose, phénomène cicatriciel prédisposant à la cirrhose, peut être compliquée d’hypertension portale et d’insuffisance hépatique ; son seul traitement est la transplantation hépato-intestinale. La prévention repose sur l’identification des patients à risque de maladie hépatique compliquée et la prise en charge optimale de la pathologie et de la nutrition parentérale. La surveillance en routine repose sur des marqueurs biologiques plus ou moins sensibles et spécifiques, ainsi que sur l’échographie. La ponction-biopsie hépatique à l’aiguille est nécessaire au diagnostic de fibrose, en particulier pour poser l’indication de transplantation combinée foie-intestin. [ABSTRACT FROM AUTHOR]

Abstract: Short bowel syndrome (SBS) is a reduction in functioning bowel length which is most often a result of surgical resection. Risk factors in the neonatal period include necrotising enterocolitis, small bowel atresia and gastroschisis. With increasing survival of preterm infants there is an increase in incidence. Management is dependent on the use of parenteral nutrition to maintain fluid and electrolyte homeostasis and promote growth and development with the longer term aim being to promote intestinal adaptation to achieve partial or complete enteral autonomy. In this review we discuss the incidence, aetiology, pathophysiology, medical and surgical treatments and outcome. [Copyright &y& Elsevier]

Abstract: Objective: Carotenoids, vitamin A, and tocopherols serve important roles in many key body functions. However, availability of these compounds may be decreased in patients with short bowel syndrome (SBS) due to decreased oral intake of fruits and vegetables and/or decreased intestinal absorption. Little information is available on serum concentrations of carotenoids, vitamin A, and tocopherols during chronic parenteral nutrition (PN) or during PN weaning. The aim of this study was to prospectively examine serum concentrations of a wide variety of carotenoids, vitamin A, and tocopherols in patients with SBS undergoing an intensive 12-wk intestinal rehabilitation program. Methods: Twenty-one PN-dependent adult patients with SBS were enrolled in a 12-wk intestinal rehabilitation program, which included individualized dietary modification, multivitamin supplementation, and randomization to receive subcutaneous placebo (n = 9) or human growth hormone (0.1 mg · kg−1 · d−1; n = 12). PN weaning was initiated after week 4 and advanced as tolerated. Serum concentrations of carotenoids, vitamin A, and tocopherols were determined at baseline and at weeks 4 and 12. Results: A significant percentage of subjects exhibited low serum concentrations for carotenoids and α-tocopherol at study entry, and a few subjects had low concentrations of retinol (5%). Carotenoid and vitamin A valves did not improve over time, while α-tocopherol levels rose. Serum α-tocopherol concentration was negatively associated with PN lipid dose (r = −0.34, P < 0.008). Conclusion: Patients with SBS are depleted in diet-derived carotenoids despite oral and intravenous multivitamin supplementation and dietary adjustment during intestinal rehabilitation and PN weaning. Reduction of PN lipid infusion may improve serum α-tocopherol concentrations. [Copyright &y& Elsevier]

The child born today with chronic intestinal failure (IF) can expect to survive throughout childhood and into adult life even if dependent on parenteral nutrition (PN) support. The three major aetiologies of chronic IF are short bowel syndrome (SBS), intestinal dysmotility and mucosal disease. SBS is the commonest of these conditions in infancy, most frequently subsequent to resection for necrotising enterocolits (NEC). The focus of IF management is to ensure appropriate weight gain and growth whilst minimising complications (related to underlying disease as well as to PN) and aiming for intestinal autonomy. Strategies to avoid complications and aid PN weaning include early oral/enteral feed introduction, 'cycling' PN as soon as tolerated, limiting lipid infusions and discharging home on overnight PN with formally trained parents. A newer treatment for SBS is GLP-2 analogue. Multidisciplinary care in a specialist intestinal rehabilitation centre with collaboration with local professional support is key to success. [ABSTRACT FROM AUTHOR]