keyword
MENU ▼
Read by QxMD icon Read
search

Alagille

keyword
https://www.readbyqxmd.com/read/27914924/the-management-of-childhood-liver-diseases-in-adulthood
#1
REVIEW
D Joshi, N Gupta, M Samyn, M Deheragoda, F Dobbels, M A Heneghan
An increasing number of patients with childhood liver disease survive into adulthood. These young adults are now entering adult services and require ongoing management. Aetiologies can be divided into liver diseases that develop in young adults which present to adult hepatologists i.e. biliary atresia and Alagille syndrome or liver diseases that occur in children/adolescents and adults i.e. autoimmune hepatitis or Wilson's disease .To successfully manage these young adults, a dynamic and responsive transition service is essential...
November 30, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27908967/kinetic-modeling-of-the-tau-pet-tracer-18f-av-1451-in-human-healthy-volunteers-and-alzheimer-s-disease-subjects
#2
Olivier Barret, David Alagille, Sandra Sanabria, Robert A Comley, Robby M Weimer, Edilio Borroni, Mark Mintun, Nicholas Seneca, Caroline Papin, Thomas Morley, Ken Marek, John P Seibyl, Gilles D Tamagnan, Danna Jennings
: (18)F-AV-1451 is currently the most widely used of several experimental tau PET tracers. The objective of this study was to evaluate (18)F-AV-1451 binding with full kinetic analysis using a metabolite corrected arterial input function, and to compare parameters derived from kinetic analysis with standardized uptake value ratio (SUVR) calculated over different imaging time intervals. METHODS: (18)F-AV-1451 PET brain imaging was completed in 16 subjects: 4 young healthy volunteers (YHV), 4 aged healthy volunteers (AHV) and 8 Alzheimer's disease subjects (AD)...
December 1, 2016: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/27906097/a-10-year-old-child-presenting-with-syndromic-paucity-of-bile-ducts-alagille-syndrome-a-case-report
#3
Girish Kumar Pati, Ayaskanta Singh, Preetam Nath, Jimmy Narayan, Pradeep Kumar Padhi, Prasanta Kumar Parida, Kaumudee Pattnaik, Chittaranjan Panda, Shivaram Prasad Singh
BACKGROUND: Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndrome also presents with skin manifestations and early-onset chronic liver disease, which was found in our case...
November 30, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27880803/wdr68-mediates-dorsal-and-ventral-patterning-events-for-craniofacial-development
#4
Estibaliz Alvarado, Mina Yousefelahiyeh, Greg Alvarado, Robin Shang, Taryn Whitman, Andrew Martinez, Yang Yu, Annie Pham, Anish Bhandari, Bingyan Wang, Robert M Nissen
Birth defects are among the leading causes of infant mortality and contribute substantially to illness and long-term disability. Defects in Bone Morphogenetic Protein (BMP) signaling are associated with cleft lip/palate. Many craniofacial syndromes are caused by defects in signaling pathways that pattern the cranial neural crest cells (CNCCs) along the dorsal-ventral axis. For example, auriculocondylar syndrome is caused by impaired Endothelin-1 (Edn1) signaling, and Alagille syndrome is caused by defects in Jagged-Notch signaling...
2016: PloS One
https://www.readbyqxmd.com/read/27863968/periocular-periorbital-and-orbital-pathology-in-liver-disease
#5
REVIEW
William J Carroll, Travis Peck, Thomas L Jenkins, Zeynel A Karcioglu
Though the connection is not often apparent, hepatic pathology may be associated with ophthalmic disease . We review the literature concerning the periocular, periorbital, and orbital manifestations of various hepatic disorders. This includes periocular/periorbital jaundice, the impact of hepatitis B and C, eyelid changes in cirrhosis, orbital mass lesions in hepatocellular carcinoma, and cutaneous vascular malformations as they are related to liver disease. The motility disorders associated with Wilson's disease, the ophthalmic manifestations of Alagille syndrome, and the effects of liver transplantation are also discussed...
November 15, 2016: Survey of Ophthalmology
https://www.readbyqxmd.com/read/27858950/sleep-mask-like-chorioretinal-atrophy-in-a-patient-with-alagille-syndrome
#6
Aya Sato, Shinji Makino, Hironobu Tampo
No abstract text is available yet for this article.
November 1, 2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27843908/anterior-chamber-pathology-in-alagille-syndrome
#7
Derek K Ho, Alex V Levin, William V Anninger, David A Piccoli, Ralph C Eagle
BACKGROUND: Alagille syndrome is an autosomal dominant disorder characterized by neonatal cholestasis, characteristic facies, and cardiac abnormalities. Ocular abnormalities include posterior embryotoxon, mosaic pattern of iris stromal hypoplasia, microcornea, optic disc drusen, and pigmentary retinopathy. We present the second report of ocular pathology in two cases of Alagille syndrome. METHODS: Gross and histologic preparations of four eyes of two patients. RESULTS: Posterior embryotoxon is seen in both cases, with iris processes extending to the embryotoxon in case 1...
October 2016: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/27820424/relevance-of-identifying-jag1-mutations-in-patients-with-isolated-posterior-embryotoxon
#8
Christophe Orssaud, Matthieu P Robert, Olivier Roche
PURPOSE: Although posterior embryotoxon (PE) has a high incidence in the general population, clinicians should exclude any sign of glaucoma in its presence. This anatomic abnormality is often referred to as "isolated" when the intraocular pressure is normal. Nevertheless, it may be the only sign of Alagille syndrome (AS) that can be clinically heterogenous, as presented here. This possibility must be known, to look for involvement of other organs, and in case of suspicion, mutation of the JAG1 gene must be considered...
December 2016: Journal of Glaucoma
https://www.readbyqxmd.com/read/27817779/-identification-of-a-novel-jag1-mutation-in-a-family-affected-by-alagille-syndrome
#9
Ying Cheng, Shu-Tao Zhao, Li Guo, Mei Deng, Qing Zhou, Yuan-Zong Song
Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was referred to the hospital with the complaint of abnormal liver function and heart murmur discovered over two years. Jaundice of the skin and sclera was not observed. The child had a prominent forehead, left esotropia, depressed nasal bridge and micromandible...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27796468/giant-hepatic-regenerative-nodules-in-alagille-syndrome
#10
Jordan B Rapp, Richard D Bellah, Carolina Maya, Bruce R Pawel, Sudha A Anupindi
BACKGROUND: Children with Alagille syndrome undergo surveillance radiologic examinations as they are at risk for developing cirrhosis and hepatocellular carcinoma. There is limited literature on the imaging of liver masses in Alagille syndrome. We report the ultrasound (US) and magnetic resonance imaging (MRI) appearances of incidental benign giant hepatic regenerative nodules in this population. OBJECTIVE: To describe the imaging findings of giant regenerative nodules in patients with Alagille syndrome...
October 28, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27748459/exocrine-pancreatic-function-in-children-with-alagille-syndrome
#11
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
https://www.readbyqxmd.com/read/27713824/comparison-of-11-c-tz1964b-and-18-f-mni659-for-pet-imaging-brain-pde10a-in-nonhuman-primates
#12
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
https://www.readbyqxmd.com/read/27557426/sertraline-as-an-additional-treatment-for-cholestatic-pruritus-in-children
#13
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
https://www.readbyqxmd.com/read/27470898/-one-case-of-alagille-syndrome-misdiagnosed-as-wilson-s-disease
#14
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
https://www.readbyqxmd.com/read/27418850/alagille-syndrome-clinical-perspectives
#15
REVIEW
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
https://www.readbyqxmd.com/read/27416809/jagged1-expression-by-osteoblast-lineage-cells-regulates-trabecular-bone-mass-and-periosteal-expansion-in-mice
#16
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
https://www.readbyqxmd.com/read/27407017/synthesis-and-in%C3%A2-vivo-evaluation-of-fluorine-18-and-iodine-123-pyrazolo-4-3-e-1-2-4-triazolo-1-5-c-pyrimidine-derivatives-as-pet-and-spect-radiotracers-for-mapping-a2a-receptors
#17
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
https://www.readbyqxmd.com/read/27322896/focal-liver-hyperplasia-in-a-patient-with-alagille-syndrome-diagnostic-difficulties-a-case-report
#18
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
https://www.readbyqxmd.com/read/27256232/-target-gene-sequence-capture-and-next-generation-sequencing-technology-to-diagnose-four-children-with-alagille-syndrome
#19
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
https://www.readbyqxmd.com/read/27242248/calcified-atherosclerosis-of-the-pulmonary-trunk-stenosis-of-the-main-pulmonary-arteries-and-post-stenotic-dilation-of-segmental-pulmonary-arteries-in-a-patient-with-alagille-syndrome
#20
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
keyword
keyword
9188
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"