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https://www.readbyqxmd.com/read/28231074/on-the-pathogenesis-of-central-liver-nodules-in-alagille-syndrome
#1
Louis Libbrecht, David Cassiman
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28230293/influence-of-complex-childhood-diseases-on-variation-in-growth-and-skeletal-development
#2
REVIEW
Babette S Zemel
The study of human growth and skeletal development by human biologists is framed by the larger theoretical concerns regarding the underpinnings of population variation and human evolution. This unique perspective is directly relevant to the assessment of child health and well-being at the individual and group level, as well as the construction of growth charts. Environmental, behavioral (nutrition and physical activity), and disease-related factors can prevent attainment of full genetic potential for growth...
February 23, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28141679/abdominal-arterial-anomalies-in-children-with-alagille-syndrome-surgical-aspects-and-outcomes-of-liver-transplantation
#3
Jules Kohaut, Romain Pommier, Florent Guerin, Danièle Pariente, Emmanuel Jacquemin, Hélène Martelli, Sophie Branchereau
OBJECTIVES: Angiogenic defects secondary to gene mutations of JAG1 and NOTCH2, causing arterial anomalies in Alagille syndrome (AGS), are well described in the literature. The study analyzes the frequency of abdominal arterial anomalies in children with AGS with an emphasis on outcomes following liver transplantation (LT). METHODS: Between 1988 and 2013, 242 children with AGS were treated at our institution. We performed a retrospective analysis of 55 who underwent LT during the study period...
January 28, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28090565/thbs2-is-a-candidate-modifier-of-liver-disease-severity-in-alagille-syndrome
#4
Ellen A Tsai, Melissa A Gilbert, Christopher M Grochowski, Lara A Underkoffler, He Meng, Xiaojie Zhang, Michael M Wang, Hailu Shitaye, Kurt D Hankenson, David Piccoli, Henry Lin, Binita M Kamath, Marcella Devoto, Nancy B Spinner, Kathleen M Loomes
BACKGROUND & AIMS: Alagille syndrome is an autosomal-dominant, multisystem disorder caused primarily by mutations in JAG1, resulting in bile duct paucity, cholestasis, cardiac disease, and other features. Liver disease severity in Alagille syndrome is highly variable, however, factors influencing the hepatic phenotype are unknown. We hypothesized that genetic modifiers may contribute to the variable expressivity of this disorder. METHODS: We performed a genome-wide association study in a cohort of Caucasian subjects with known pathogenic JAG1 mutations, comparing patients with mild vs severe liver disease, followed by functional characterization of a candidate locus...
September 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28043454/surgical-techniques-for-repair-of-peripheral-pulmonary-artery-stenosis
#5
Richard D Mainwaring, Frank L Hanley
Peripheral pulmonary artery stenosis (PPAS) is a rare form of congenital heart disease that is most frequently associated with Williams and Alagille syndromes. These patients typically have systemic level right ventricular pressures secondary to obstruction at the lobar, segmental, and subsegmental branches. The current management of patients with PPAS remains somewhat controversial. We have pioneered an entirely surgical approach for the reconstruction of PPAS. This approach initially entailed a surgical patch augmentation of all major lobar branches and effectively reduced the right ventricular pressures by more than half...
July 2016: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28027587/analysis-of-surgical-interruption-of-the-enterohepatic-circulation-as-a-treatment-for-pediatric-cholestasis
#6
Kasper S Wang, Greg Tiao, Lee M Bass, Paula M Hertel, Douglas Mogul, Nanda Kerkar, Matthew Clifton, Colleen Azen, Laura Bull, Philip Rosenthal, Dylan Stewart, Riccardo Superina, Ronen Arnon, Molly Bozic, Mary L Brandt, Patrick A Dillon, Annie Fecteau, Kishore Iyer, Binita Kamath, Saul Karpen, Frederick Karrer, Kathleen M Loomes, Cara Mack, Peter Mattei, Alexander Miethke, Kyle Soltys, Yumirle P Turmelle, Karen West, Jessica Zagory, Cat Goodhue, Benjamin L Shneider
: To evaluate the efficacy of non-transplant surgery for pediatric cholestasis, 58 clinically diagnosed children, including 20 Alagille syndrome (ALGS), 16 Familial Intrahepatic Cholestasis-1 (FIC1), 18 Bile Salt Export Pump (BSEP) disease, & 4 others with low γ-glutamyl transpeptidase disease (levels <100 U/L), were identified across 14 Childhood Liver Disease Research Network (ChiLDReN) centers. Data were collected retrospectively from individuals who collectively had 39 partial external biliary diversions (PEBD), 11 ileal exclusions (IE) and 7 gallbladder-to-colon diversion (GBC)...
December 27, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28018696/alagille-syndrome-a-case-report-highlighting-dysmorphic-facies-chronic-illness-and-depression
#7
James J Bresnahan, Zachary A Winthrop, Rabia Salman, Salman Majeed
Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the psychiatric manifestations of Alagille syndrome have not been previously discussed in literature...
2016: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/27967296/new-jag1-mutation-causing-alagille-syndrome-presenting-with-severe-hypercholesterolemia-case-report-with-emphasis-on-genetics-and-lipid-abnormalities
#8
Zeina C Hannoush, Herminia Puerta, Mislen S Bauer, Ronald B Goldberg
CONTEXT: Alagille syndrome is a rare autosomal dominant genetic disorder caused by defects in the Notch signaling pathway that involves multiple organ systems. Bile duct paucity is the main characteristic feature of the disease, which often leads to cholestatic hypercholesterolemia. CASE DESCRIPTION: We report the case of a male infant who at one year of age had developed failure to thrive, jaundice, intermittent pruritus and multiple diffuse symmetrical skin xanthomas...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27960019/-glomerular-lipidosis
#9
Sandro Feriozzi
Lipidoses occur for an abnormal storage parenchymal deposition of lipids and products of their metabolism in large amounts or sometimes, involving only some particular tissue structures. The lipid storage is usually due to an inborn error causing an enzyme absence /deficiency in the primary lipidoses and to a complex metabolism alterations in the secondary forms. However, histologically all lipid depositions look very similar, and immunohistochemical investigation, clinical pictures knowledge and genetic tests need to make a correct diagnosis...
2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27914924/the-management-of-childhood-liver-diseases-in-adulthood
#10
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
#11
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
#12
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
#13
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
#14
REVIEW
William J Carroll, Travis Peck, Thomas L Jenkins, Zeynel A Karcioglu
Although 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 or 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 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
#15
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
#16
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
#17
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
#18
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
#19
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...
February 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/27748459/exocrine-pancreatic-function-in-children-with-alagille-syndrome
#20
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
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