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Dorota Gliwicz, Irena Jankowska, Aldona Wierzbicka, Anna Miśkiewicz-Chotnicka, Aleksandra Lisowska, Jarosław Walkowiak
Alagille syndrome (AGS) is often associated with symptoms of maldigestion, such as steatorrhea, hypotrophy and growth retardation. Exocrine pancreatic insufficiency was proposed as the underlying cause. We aimed to assess the exocrine pancreatic function with the use of different methods in AGS patients. Concentrations of fecal elastase-1 (FE1) and fecal lipase (FL) activities were measured in 33 children with AGS. The C-mixed triglyceride breath test (MTBT) in a subgroup comprising 15 patients. In all patients studied, FE1 concentrations and FL activities were normal...
October 17, 2016: Scientific Reports
Hui Liu, Hongjun Jin, Xuyi Yue, Junbin Han, Hao Yang, Hubert Flores, Yi Su, David Alagille, Joel S Perlmutter, Gilles Tamagnan, Zhude Tu
Phosphodiesterase 10A (PDE10A) inhibitors show therapeutic effects for diseases with striatal pathology. PET radiotracers have been developed to quantify in vivo PDE10A levels and target engagement for therapeutic interventions. The aim of this study was to compare two potent and selective PDE10A radiotracers, [(11)C]TZ1964B and [(18)F]MNI659 in the nonhuman primate (NHP) brain. Double scans in the same cynomolgus monkey on the same day were performed after injection of [(11)C]TZ1964B and [(18)F]MNI659. Specific uptake was determined in two ways: nondisplaceable binding potential (BPND) was calculated using cerebellum as the reference region and the PDE-10A enriched striatum as the target region of interest (ROI); the area under the time-activity curve (AUC) for the striatum to cerebellum ratio was also calculated...
October 2016: Pharmacology Research & Perspectives
Alice Thébaut, Dalila Habes, Frédéric Gottrand, Christine Rivet, Joseph Cohen, Dominique Debray, Emmanuel Jacquemin, Emmanuel Gonzales
BACKGROUNDS/AIM: Pruritus is a severe symptom accompanying chronic cholestasis. It can be debilitating and difficult to control. In children, first-line treatments are ursodeoxycholic acid and rifampicin. Refractory pruritus may require invasive therapies including liver transplantation. Clinical trials based on small samples of adult patients suggest that serotonin reuptake inhibitors can improve pruritus in cholestatic or uremic disease. We performed a prospective, multicenter study to assess efficiency and safety of the serotonin reuptake inhibitor sertraline in treating children with refractory cholestatic pruritus...
August 24, 2016: Journal of Pediatric Gastroenterology and Nutrition
K Li, H B Ning, J He, E E Guo, J Shang
No abstract text is available yet for this article.
May 20, 2016: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
Maha Saleh, Binita M Kamath, David Chitayat
Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome...
2016: Application of Clinical Genetics
D W Youngstrom, M I Dishowitz, C B Bales, E Carr, P L Mutyaba, K M Kozloff, H Shitaye, K D Hankenson, K M Loomes
Loss-of-function mutations in the Notch ligand, Jagged1 (Jag1), result in multi-system developmental pathologies associated with Alagille syndrome (ALGS). ALGS patients present with skeletal manifestations including hemi-vertebrae, reduced bone mass, increased fracture incidence and poor bone healing. However, it is not known whether the increased fracture risk is due to altered bone homeostasis (primary) or nutritional malabsorption due to chronic liver disease (secondary). To determine the significance of Jag1 loss in bone, we characterized the skeletal phenotype of two Jag1-floxed conditional knockout mouse models: Prx1-Cre;Jag1(f/f) to target osteoprogenitor cells and their progeny, and Col2...
October 2016: Bone
Christine Vala, Thomas J Morley, Xuechun Zhang, Caroline Papin, Adriana Alexandre S Tavares, H Sharon Lee, Cristian Constantinescu, Olivier Barret, Vincent M Carroll, Ronald M Baldwin, Gilles D Tamagnan, David Alagille
Imaging agents that target adenosine type 2A (A2A ) receptors play an important role in evaluating new pharmaceuticals targeting these receptors, such as those currently being developed for the treatment of movement disorders like Parkinson's disease. They are also useful for monitoring progression and treatment efficacy by providing a noninvasive tool to map changes in A2A receptor density and function in neurodegenerative diseases. We previously described the successful evaluation of two A2A -specific radiotracers in both nonhuman primates and in subsequent human clinical trials: [(123) I]MNI-420 and [(18) F]MNI-444...
September 6, 2016: ChemMedChem
R Ennaifer, L Ben Farhat, M Cheikh, H Romdhane, Ines Marzouk, N Belhadj
INTRODUCTION: Alagille syndrome is a multisystem autosomal disorder. The main clinical features are chronic cholestasis due to paucity of intrahepatic bile ducts, which can progress to cirrhosis and liver failure. PRESENTATION OF CASE: A 15 year-old girl with Alagille syndrome was referred for liver transplantation. She developed severe cirrhosis with refractory ascites. In the pre-transplant evaluation, imaging studies disclosed liver atrophy with a high density pseudotumor in the segment 4, raising the possibility of a hepatocellular carcinoma...
2016: International Journal of Surgery Case Reports
M L Gao, X M Zhong, X Ma, H J Ning, D Zhu, J Z Zou
OBJECTIVE: To make genetic diagnosis of Alagille syndrome (ALGS) patients using target gene sequence capture and next generation sequencing technology. METHOD: Target gene sequence capture and next generation sequencing were used to detect ALGS gene of 4 patients. They were hospitalized at the Affiliated Hospital, Capital Institute of Pediatrics between January 2014 and December 2015, referred to clinical diagnosis of ALGS typical and atypical respectively in 2 cases...
June 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Luis Gorospe Sarasúa, Ana María Ayala-Carbonero, María Ángeles Fernández-Méndez
No abstract text is available yet for this article.
May 27, 2016: Archivos de Bronconeumología
Hyun-Hae Cho, Woo Sun Kim, Young Hun Choi, Jung-Eun Cheon, So Mi Lee, In-One Kim, Su-Mi Shin, Jae Sung Ko, Jin Soo Moon
OBJECTIVE: To evaluate the ultrasonography (US) features of Alagille syndrome (ALGS), as compared with biliary atresia (BA) or neonatal hepatitis (NH). METHODS: Our study included 23 ALGS, 75 BA and 70 NH patients. The initial US images were retrospectively reviewed for gallbladder (GB) morphology with systemic classification, GB length and luminal area, presence of triangular-cord (TC) sign and hypertrophied hepatic-artery. The presence of anomalies associated with ALGS was evaluated...
June 2016: European Journal of Radiology
Aya M Fattouh, Engy A Mogahed, Nehal Abdel Hamid, Rodina Sobhy, Noha Saber, Hanaa El-Karaksy
BACKGROUND: There is deficiency of data about congenital heart defects (CHDs) in cholestatic disorders of infancy other than Alagille syndrome (AGS). We aimed to define the prevalence and types of CHDs in infants with various causes of cholestatic disorders of infancy. METHODS: This cross-sectional study was conducted on 139 infants presenting with cholestasis whether surgical or non-surgical. The study was carried out at the Pediatric Hepatology Unit, Cairo University Children's Hospital, Egypt...
September 2016: Archives of Disease in Childhood
Anand Ghanekar, Binita M Kamath
PURPOSE OF REVIEW: Biliary diseases are a significant cause of morbidity and mortality. Challenges in establishing accurate in-vitro methods to model human bile duct diseases and evaluate therapies have contributed to a lack of effective medical treatments. The recent discovery of strategies to reprogram human somatic cells to a state of induced pluripotency has opened up new possibilities for studying both development and disease in a wide variety of human tissues. This review was undertaken to summarize the recent progress made in generating biliary tissue from induced pluripotent stem cells (iPSCs) and the application of this technology to biliary disease modeling...
May 2016: Current Opinion in Gastroenterology
Renee M Rodriguez, Jeffrey A Feinstein, Frandics P Chan
BACKGROUND: Alagille syndrome is a rare disorder commonly associated with pulmonary artery stenosis. Studies exist discussing the cardiovascular sequela but no consistent phenotype, or pattern of pulmonary artery stenosis, has been described. OBJECTIVE: The objective of this study was to characterize the distribution and severity of pulmonary artery stenosis in patients with Alagille syndrome based on computed tomography angiography. MATERIALS AND METHODS: A retrospective chart review identified patients with Alagille syndrome who had undergone CT angiography...
July 2016: Pediatric Radiology
M M Nentwich, J Maertz, G Rudolph
Optic disc drusen are an important differential diagnosis in the diagnostic evaluation of a prominent optic nerve head. Drusen of the optic disc occur in 0.34 to 2.4 % of human individuals and manifest themselves bilaterally in three of four cases. Drusen are found six times more often within histological sections than on funduscopic examination. It is known that optic disc drusen can occur in familial clusters without any other pathological ophthalmic findings. They can also be associated with retinitis pigmentosa, or with the Joubert or Alagille syndromes...
March 2016: Klinische Monatsblätter Für Augenheilkunde
Anne-Laure Rougemont, Valerie A McLin
No abstract text is available yet for this article.
September 2016: Journal of Pediatric Gastroenterology and Nutrition
David Thomae, Thomas J Morley, Hsiaoju S Lee, Olivier Barret, Cristian Constantinescu, Caroline Papin, Ronald M Baldwin, Gilles D Tamagnan, David Alagille
Phosphodiesterase (PDE) 4 is the most prevalent PDE in the central nervous system (CNS) and catalyzes hydrolysis of intracellular cAMP, a secondary messenger. By therapeutic inhibition of PDE4, intracellular cAMP levels can be stabilized, and the symptoms of psychiatric and neurodegenerative disorders including depression, memory loss and Parkinson's disease can be ameliorated. Radiotracers targeting PDE4 can be used to study PDE4 density and function, and evaluate new PDE4 therapeutics, in vivo in a non-invasive way, as has been shown using the carbon-11 labeled PDE4 inhibitor R-(-)-rolipram...
May 15, 2016: Journal of Labelled Compounds & Radiopharmaceuticals
Sook Min Hwang, Tae Yeon Jeon, So-Young Yoo, Ji Hye Kim, Ben Kang, Yon Ho Choe, Haeyon Cho, Jung Sun Kim
PURPOSE: To compare preoperative CT findings before liver transplantation between patients with Alagille syndrome (AGS) and those with end-stage biliary atresia (BA). MATERIALS AND METHODS: The institutional review board approved this retrospective study. Eleven children with AGS (median age, 19.0 ± 13.0 months; male to female ratio, 3:8) and 109 children with end-stage BA (median age, 17.9 ± 25.8 months; male to female ratio, 37:72) who underwent abdomen CT as candidates for liver transplant were included...
2016: PloS One
Takao Togawa, Tokio Sugiura, Koichi Ito, Takeshi Endo, Kohei Aoyama, Kei Ohashi, Yutaka Negishi, Toyoichiro Kudo, Reiko Ito, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Shigeo Kure, Shinji Saitoh
OBJECTIVES: To ascertain a molecular genetic diagnosis for subjects with neonatal/infantile intrahepatic cholestasis (NIIC) by the use of next-generation sequencing (NGS) and to perform a genotype-phenotype correlation. STUDY DESIGN: We recruited Japanese subjects with NIIC who had no definitive molecular genetic diagnosis. We developed a diagnostic custom panel of 18 genes, and the amplicon library was sequenced via NGS. We then compared clinical data between the molecular genetically confirmed subjects with NIIC...
April 2016: Journal of Pediatrics
Giacomo Gotti, Antonio Marseglia, Costantino De Giacomo, Maria Iascone, Aurelio Sonzogni, Lorenzo D'Antiga
The most common conditions causing cholestatic jaundice in infants are biliary atresia, neonatal hepatitis, and Alagille syndrome. In these disorders, the clinical presentation includes jaundice, pale stools, dark urine and hepatomegaly. Splenomegaly is not an early feature since it is due to portal hypertension, a later event. The finding of cholestatic jaundice and a large spleen usually raises the suspicion of Niemann-Pick type C disease (NP-C), a lysosomal storage disorder. We present and discuss here a case of an infant with liver disease and splenomegaly that were not ascribed to NP-C, but to Gaucher disease type 2...
2016: Fetal and Pediatric Pathology
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