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Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.
Wang, HH, Wen, FQ, Dai, DL, Wang, JS, Zhao, J, Setchell, KD, Shi, LN, Zhou, SM, Liu, SX, Yang, QH
World journal of gastroenterology. 2018;(35):4086-4092
Abstract
Steroid 5β-reductase [aldo-keto reductase family 1 member D1 (AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficiency caused by genetic defects in AKR1D1 leads to life-threatening neonatal hepatitis and cholestasis. There is still limited experience regarding the treatment of this disease. We describe an infant who presented with hyperbilirubinemia and coagulopathy but normal bile acid and γ-glutamyltransferase. Gene analysis was performed using genomic DNA from peripheral lymphocytes from the patient, his parents, and his elder brother. The patient was compound heterozygous for c.919C>T in exon 8 and exhibited a loss of heterozygosity of the AKR1D1 gene, which led to an amino acid substitution of arginine by cysteine at amino acid position 307 (p.R307C). Based on these mutations, the patient was confirmed to have primary 5β-reductase deficiency. Ursodeoxycholic acid (UDCA) treatment did not have any effect on the patient. However, when we changed to chenodeoxycholic acid (CDCA) treatment, his symptoms and laboratory tests gradually improved. It is therefore crucial to supplement with an adequate dose of CDCA early to improve clinical symptoms and to normalize laboratory tests.
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2.
Current Management of Hepatic Encephalopathy.
Acharya, C, Bajaj, JS
The American journal of gastroenterology. 2018;(11):1600-1612
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3.
Obeticholic acid for severe bile acid diarrhea with intestinal failure: A case report and review of the literature.
Hvas, CL, Ott, P, Paine, P, Lal, S, Jørgensen, SP, Dahlerup, JF
World journal of gastroenterology. 2018;(21):2320-2326
Abstract
Bile acid diarrhea results from excessive amounts of bile acids entering the colon due to hepatic overexcretion of bile acids or bile acid malabsorption in the terminal ileum. The main therapies include bile acid sequestrants, such as colestyramine and colesevelam, which may be given in combination with the opioid receptor agonist loperamide. Some patients are refractory to conventional treatments. We report the use of the farnesoid X receptor agonist obeticholic acid in a patient with refractory bile acid diarrhea and subsequent intestinal failure. A 32-year-old woman with quiescent colonic Crohn's disease and a normal terminal ileum had been diagnosed with severe bile acid malabsorption and complained of watery diarrhea and fatigue. The diarrhea resulted in hypokalemia and sodium depletion that made her dependent on twice weekly intravenous fluid and electrolyte infusions. Conventional therapies with colestyramine, colesevelam, and loperamide had no effect. Second-line antisecretory therapies with pantoprazole, liraglutide, and octreotide also failed. Third-line treatment with obeticholic acid reduced the number of stools from an average of 13 to an average of 7 per 24 h and improved the patient's quality of life. The fluid and electrolyte balances normalized. The effect was sustained during follow-up for 6 mo with treatment at a daily dosage of 25 mg. The diarrhea worsened shortly after cessation of obeticholic acid. This case report supports the initial report that obeticholic acid may reduce bile acid production and improve symptoms in patients with bile acid diarrhea.
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4.
Fetal death in utero and miscarriage in a patient with Crohn's disease under therapy with ustekinumab: case-report and review of the literature.
Venturin, C, Nancey, S, Danion, P, Uzzan, M, Chauvenet, M, Bergoin, C, Roblin, X, Flourié, B, Boschetti, G
BMC gastroenterology. 2017;(1):80
Abstract
BACKGROUND Ustekinumab is a fully human monoclonal antibody against the p40 subunit of interleukin (IL) 12 and 23 which is involved in the pathogenesis of several inflammatory diseases. Ustekinumab is approved for psoriasis and psoriatic arthritis treatment and has been successfully evaluated in phase II and III trials for patients with Crohn's disease (CD). CASE PRESENTATION We report here the case of a patient who became pregnant during treatment with ustekinumab for a refractory CD and which ended in miscarriage. CONCLUSION Ustekinumab is a relatively new pharmacotherapy and in addition to this clinical case, we reviewed the published literature concerning the use of this treatment during pregnancy and its consequences on pregnancy and fetus outcome.
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5.
Conservative management of intestinal obstruction by isolated intramural duodenal hematoma. A case report and review of the literature.
D'Arpa, F, Orlando, G, Tutino, R, Salamone, G, Battaglia, EO, Gulotta, G
Annali italiani di chirurgia. 2015;(ePub)
Abstract
The duodenal injuries occur in the 3-5% of blunt abdominal traumas. The isolated intramural duodenal hematoma is a very rare lesion. An early diagnosis and an adequate therapy are crucial because a delay, beyond 24 hours, increases the mortality from the 11% to 40%. However, diagnosis is often hindered by a lack of specific symptoms. We report a case of a 21 years-old man with an intestinal obstruction from isolated intramural duodenal hematoma occurred after a blunt abdominal trauma in a sport competition. The patient was treated conservatively with total parenteral nutrition, gastric decompression and intravenous PPIs. The progressive spontaneous resolution of the hematoma was checked with periodical endoscopies. The discharge occurred after three weeks with no early complications. No late complications occurred at one-year follow-up. The endoscopy is a good and safe tool in the management of this intestinal obstructions with the possibility of conservative or interventional treatment.
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Congenital hyperinsulinism: exclusive human milk and breastfeeding.
Edwards, TM, Spatz, DL
Advances in neonatal care : official journal of the National Association of Neonatal Nurses. 2014;(4):262-6; quiz 267-8
Abstract
Congenital hyperinsulinism is a genetic condition causing dysregulation of insulin and results in persistent hypoglycemia. The most common types are sulfonylurea receptor (SUR1), potassium inward rectifying channel (Kir6.2), glutamate dehydrogenase (GDH), and glucokinase (GK), with SUR1 and Kir6.2 being the most prevalent. It is imperative that these infants undergo diagnostic testing, which includes genetic, neonatal fasting study to induce hypoglycemia, glucagon stimulation, and imaging. Once a diagnosis has been made, surgical intervention may be needed to help regulate blood glucose levels. During this diagnostic process and as the infant is undergoing treatment, there may be little concern for the mother's feeding plan. Because human milk is the preferred form of nutrition for all infants, these mothers should receive prenatal counseling regarding the initiation and maintenance of milk supply. Parenteral nutrition may be necessary to maintain blood glucose to support human milk administration and breastfeeding.
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Effect of infliximab induction therapy on secondary systemic amyloidosis associated with Crohn's disease: case report and review of the literature.
Pukitis, A, Zake, T, Groma, V, Ostrovskis, E, Skuja, S, Pokrotnieks, J
Journal of gastrointestinal and liver diseases : JGLD. 2013;(3):333-6
Abstract
Secondary systemic (AA) amyloidosis is reported as a serious complication that occurs in long-standing Crohn's disease (CD), with an incidence of 0.3-10.9%. Various therapeutic approaches using medicines and elemental diet have been recommended, but still there are no established standards of treatment for secondary systemic amyloidosis in CD. Only a few studies have shown the role of TNFα ihibitors in the treatment of AA amyloidosis over a long term period. We report the case of a 24-year-old male with CD complicated by AA amyloidosis with renal and gastrointestinal tract involvement treated with infliximab as induction therapy. Intestinal AA amyloidosis progression occurred at the same time with the development of CD as an early complication, whereas duration of CD prior to the diagnosis of renal AA amyloidosis was 6 years. Infliximab therapy (3 infusions) caused a significant decrease of serum amyloid A protein (by 97.9%), C-reactive protein (by 70%), improvement of disease activity index, and CD caused clinical symptoms. At the same time gradual progression of the renal damage (reduction of renal function) was not affected by the treatment. Direct efficacy of infliximab infusions on serum amyloid protein level may support the hypothesis of TNFα induced reduction on the progression of AA amyloidosis described in previous study reports. Targeted histological analysis of tissue biopsy is crucial to clarify the presence of AA amyloidosis in CD induced multiorgan damage cases.
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Idiopathic chylous ascites treated with total parenteral nutrition and octreotide. A case report and review of the literature.
Yildirim, AE, Altun, R, Can, S, Ocal, S, Akbaş, E, Korkmaz, M, Selçuk, H, Yilmaz, U
European journal of gastroenterology & hepatology. 2011;(10):961-3
Abstract
Chylous ascites is the accumulation of lipid-rich lymph in the peritoneal cavity. The usual cause in adults is lymphatic obstruction or leakage caused by malignancy. Non-malignant causes include postoperative trauma, cirrhosis, tuberculosis, pancreatitis and filariasis. A variety of treatment options have been proposed for the management of chylous ascites; however, their effectiveness in idiopathic or primary form is unknown. Here we report a case of chylous acid rapidly resolved with the treatment of fasting, total parenteral nutrition and somatostatin analogue.
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Long-term partial remission of autoimmune thrombocytopenia in a patient treated with the anti-tumor necrosis factor-alpha antibody infliximab for refractory fistulizing Crohn's disease.
de Rossi, TM, Krauss, N, Voll, RE, Nägel, A, Weidenhiller, M, Konturek, PC, Hahn, EG, Raithel, M
Digestion. 2008;(4):195-200
Abstract
BACKGROUND Up to the present date, the treatment of recurrent chronic fistulas occurring with Crohn's disease represents a challenging task for both internists and surgeons alike. METHODS Conservative methods of treatment using steroids, dietotherapy, antibiotics or immunosuppressive agents are not particularly effective in treating fistulas. Treatment with anti-tumor necrosis factor-alpha (TNFalpha) antibodies results in more remissions of fistulas. However, its use requires appropriate medical experience and causes substantial costs. Surgical procedures such as fistula sanitation or protective ileostomy are often obfuscated by the recurrence of the condition. The efficiency of anti-TNFalpha antibodies for the treatment of active Crohn's disease has been evidenced through several multicenter, double-blind, placebo-controlled studies. RESULTS Here we report the successful anti-TNFalpha treatment of a patient suffering from chronic, fistulizing, therapy-resistant Crohn's disease and a concomitant chronic autoimmune thrombocytopenia. The chimeric anti-TNFalpha antibody infliximab markedly reduced the disease activity of Crohn's disease, and, in addition, substantially increased the platelet counts. After infliximab application, no other treatment of autoimmune thrombocytopenia was required. After infliximab therapy, autoantibodies to dsDNS could be observed. However, there were no signs of a lupus-like disease. CONCLUSION This report indicates a favorable therapeutic response of autoimmune thrombocytopenia associated to Crohn's disease.
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10.
Refractory coeliac disease: remission with infliximab and immunomodulators.
Turner, SM, Moorghen, M, Probert, CS
European journal of gastroenterology & hepatology. 2005;(6):667-9
Abstract
Coeliac disease is a T-cell-mediated enteropathy induced by gluten. A minority of patients who fail to respond to a gluten-free diet may require intervention with immunomodulating drugs. We report a case of refractory coeliac disease where remission was induced by the anti-tumour necrosis factor-alpha antibody infliximab and was maintained with prednisolone and azathioprine.