cholestasis/diarrea

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OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea.

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SLC51A encodes the alpha subunit of the heteromeric organic solute transporter alpha-beta (OSTα-OSTβ), an important contributor to intestinal bile acid (BA) reabsorption in the enterohepatic circulation(1,2). Here, we identified the first case of OSTα deficiency in a child with unexplained elevated

Intractable diarrhea in infancy--whether infection, zinc deficiency, cholestasis and hemorrhage are causes or results?

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Although there has been a marked decrease in the number of infants with intractable diarrhea in Japan, the difficulty in treating it still remains unchanged. Here we report two infants who suffered presumably from "chronic nonspecific enterocolitis" with resistance to the usual treatment. Besides

Diarrhea and elevation of plasma markers of cholestasis are common and often occur concomitantly in critically ill patients

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Purpose: We aimed to describe epidemiology of diarrhea and cholestasis in critically ill patients and explore associations between these two conditions. Material and methods:

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

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Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility.

Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation.

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OBJECTIVE Progressive familial intrahepatic cholestasis characterized by normal serum gamma-glutamyltransferase activity can be due to mutations in familial intrahepatic cholestasis type 1 (FIC1) (ATP8B1), a gene expressed in several organs. In some cases, it is associated with extrahepatic

[Idiopathic cholestasis associated with bloody diarrhea as the first manifestation of Hodgkin's lymphoma].

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Jaundice in Hodgkin's disease occurs in 3-13% of the cases reported in the medical literature and can be due to several causes. Cholestatic jaundice associated with ductopenia may be a consequence of an associated paraneoplastic process and can occur several months before the development of

[Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature].

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The ARC-syndrome is a rare disease with the obligatory symptoms arthrogryposis, renal tubular dysfunction and cholestasis. Optional further symptoms like ichthyosis, diarrhea, central nervous system defects and recurrent infections have been reported. The ARC-syndrome was first reported by

[Intrahepatic cholestasis due to mitochondrial respiratory chain complex I deficiency in a Chinese boy].

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Mitochondrial respiratory chain deficiency is a common cause of mitochondrial disease in children. This study aimed to review the clinical, enzymatic and genetic characteristics of a Chinese boy with progressive intrahepatic cholestasis due to mitochondrial respiratory chain complex I deficiency.

Living Donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1: Two Reported Cases.

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BACKGROUND Progressive familial intrahepatic cholestasis type 1 (PFIC1) is an inherited disease characterized by cholestatic features. We report two patients with PFIC1 who underwent liver retransplantation. METHODS One patient was a 3-year-old female who underwent liver transplantation for PFIC1.

Adding dietary green beans resolves the diarrhea associated with bowel surgery in neonates: a case study.

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Feeding intolerance is a common problem in infants who have had multiple or extensive resections of their small bowel. Chronic malabsorption and diarrhea are common side effects that inhibit the advancement of enteral feedings and prolong dependence on parenteral nutrition (PN). Poor growth,

NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure.

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Pathogenic sequence variants in the nuclear bile acid receptor FXR, encoded by NR1H4, have been reported in a small number of children with low-GGT cholestasis progressing to liver failure. We describe three additional children from two unrelated families with cholestasis and liver failure due to

[A clinical analysis of intrahepatic cholestasis of pregnancy in 1241 cases].

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OBJECTIVE To study the clinical features and diagnosis of intrahepatic cholestasis of pregnancy (ICP). METHODS During the last 10 years 1241 cases of ICP stayed in our hospital. Their clinical data were retrospectively reviewed. RESULTS 5.2% of all the maternity patients had ICP. It occurred more in

Button cholecystostomy for management of progressive familial intrahepatic cholestasis syndromes.

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OBJECTIVE Progressive familial intrahepatic cholestasis syndromes are characterized by impaired bile acid secretion resulting in pruritus, coagulopathy, diarrhea, and malnutrition leading to progressive liver failure and death in childhood. Partial internal or external biliary drainage can relieve

Ileal exclusion for refractory symptomatic cholestasis in Alagille syndrome.

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BACKGROUND Alagille syndrome (AGS) can result in pruritic self-mutilation and disabling or disfiguring xanthomas. Though external biliary diversion and transplantation have been described for AGS, few data exist for the use of ileal exclusion (IE) in this setting. METHODS Three patients with AGS

Epidemiology of adverse events and Clostridium difficile-associated diarrhea during long-term antibiotic therapy for osteoarticular infections.

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OBJECTIVE Osteoarticular infections require several weeks of antibiotic therapy, but little is known about the epidemiology of adverse events (AE) including symptomatic Clostridium difficile-associated diarrhea during treatment in these patients. METHODS Cohort study (1996-2011) at a tertiary

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