keyword
MENU ▼
Read by QxMD icon Read
search

Alagille

keyword
https://www.readbyqxmd.com/read/29046208/-clinical-and-genetic-study-of-an-infant-with-alagille-syndrome-identification-of-a-novel-chromosomal-interstitial-deletion-including-jag1-gene
#1
Hua Li, Jia-Jia Liu, Mei Deng, Li Guo, Ying Cheng, Yuan-Zong Song
Alagille syndrome (ALGS) is an autosomal dominant disease affecting multiple systems including the liver, heart, skeleton, eyes, kidneys and face. This paper reports the clinical and genetic features of an infant with this disease. A 3-month-and-10-day-old female infant was referred to the hospital with jaundiced skin and sclera for 3 months. Physical examination revealed wide forehead and micromandible. A systolic murmur of grade 3-4/6 was heard between the 2th and 3th intercostal spaces on the left side of the sternum...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28974684/endoderm-jagged-induces-liver-and-pancreas-duct-lineage-in-zebrafish
#2
Danhua Zhang, Keith P Gates, Lindsey Barske, Guangliang Wang, Joseph J Lancman, Xin-Xin I Zeng, Megan Groff, Kasper Wang, Michael J Parsons, J Gage Crump, P Duc Si Dong
Liver duct paucity is characteristic of children born with Alagille Syndrome (ALGS), a disease associated with JAGGED1 mutations. Here, we report that zebrafish embryos with compound homozygous mutations in two Notch ligand genes, jagged1b (jag1b) and jagged2b (jag2b) exhibit a complete loss of canonical Notch activity and duct cells within the liver and exocrine pancreas, whereas hepatocyte and acinar pancreas development is not affected. Further, animal chimera studies demonstrate that wild-type endoderm cells within the liver and pancreas can rescue Notch activity and duct lineage specification in adjacent cells lacking jag1b and jag2b expression...
October 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28922972/perioperative-anesthetic-management-of-patients-having-liver-transplantation-for-uncommon-conditions
#3
Anthony Bonavia, Justin Pachuski, Dmitri Bezinover
This review focuses on the perioperative anesthetic management of patients having liver transplantation (LT) performed for several uncommon indications or in combination with rare pathology. Conditions discussed in the article include Alagille syndrome, hypertrophic cardiomyopathy, Gilbert's syndrome, porphyria, Wilson's disease, and Budd-Chiari syndrome. In comparison to other indications, LT in these settings is infrequent because of the low incidence of these pathologies. Most of these conditions (with the exception of Gilbert syndrome) are associated with a high probability of significant perioperative complications and increased mortality and morbidity...
September 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28901437/implementing-targeted-region-capture-sequencing-for-the-clinical-detection-of-alagille-syndrome-an-efficient-and-cost%C3%A2-effective-method
#4
Tianhong Huang, Guilin Yang, Xiao Dang, Feijian Ao, Jiankang Li, Yizhou He, Qiyuan Tang, Qing He
Alagille syndrome (AGS) is a highly variable, autosomal dominant disease that affects multiple structures including the liver, heart, eyes, bones and face. Targeted region capture sequencing focuses on a panel of known pathogenic genes and provides a rapid, cost‑effective and accurate method for molecular diagnosis. In a Chinese family, this method was used on the proband and Sanger sequencing was applied to validate the candidate mutation. A de novo heterozygous mutation (c.3254_3255insT p.Leu1085PhefsX24) of the jagged 1 gene was identified as the potential disease‑causing gene mutation...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28878125/human-hepatic-organoids-for-the-analysis-of-human-genetic-diseases
#5
Yuan Guan, Dan Xu, Phillip M Garfin, Ursula Ehmer, Melissa Hurwitz, Greg Enns, Sara Michie, Manhong Wu, Ming Zheng, Toshihiko Nishimura, Julien Sage, Gary Peltz
We developed an in vitro model system where induced pluripotent stem cells (iPSCs) differentiate into 3-dimensional human hepatic organoids (HOs) through stages that resemble human liver during its embryonic development. The HOs consist of hepatocytes, and cholangiocytes, which are organized into epithelia that surround the lumina of bile duct-like structures. The organoids provide a potentially new model for liver regenerative processes, and were used to characterize the effect of different JAG1 mutations that cause: (a) Alagille syndrome (ALGS), a genetic disorder where NOTCH signaling pathway mutations impair bile duct formation, which has substantial variability in its associated clinical features; and (b) Tetralogy of Fallot (TOF), which is the most common form of a complex congenital heart disease, and is associated with several different heritable disorders...
September 7, 2017: JCI Insight
https://www.readbyqxmd.com/read/28834615/self-assembled-liver-organoids-recapitulate-hepato-biliary-organogenesis-in-vitro
#6
Dipen Vyas, Pedro M Baptista, Matthew Brovold, Emma Moran, Matthew Brovold, Brandon Gaston, Chris Booth, Michael Samuel, Anthony Atala, Shay Soker
Several 3D cell culture systems are currently available to create liver organoids. In general, these systems display better physiologic and metabolic aspects of intact liver tissue, compared with 2D culture systems. However, none of these reliably mimic human liver development, including parallel formation of hepatocyte and cholangiocyte anatomical structures. Here, we show that human fetal liver progenitor cells self-assemble inside acellular liver extracellular matrix (ECM) scaffolds to form 3D liver organoids that recapitulated several aspects of hepato-biliary organogenesis and resulted in concomitant formation of progressively more differentiated hepatocytes and bile duct structures...
August 23, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28749707/imaging-findings-of-alagille-syndrome-in-young-infants-differentiation-from-biliary-atresia
#7
Solbee Han, Tae Yeon Jeon, Sook Min Hwang, So-Young Yoo, Yon Ho Choe, Suk-Koo Lee, Ji Hye Kim
OBJECTIVE: To compare the imaging findings using ultrasonography, MR cholangiopancreatography (MRCP), and intraoperative cholangiography (IOC) between Alagille syndrome (AGS) and biliary atresia (BA) in young infants with cholestatic jaundice. METHODS: The institutional review board approved this retrospective study. Ultrasonography (n = 55), MRCP (n = 33), and IOC (n = 22) studies were performed in 55 infants (all younger than 3 months) with AGS (n = 7) and BA (n = 48)...
August 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28734329/leptochoroid-in-a-case-of-alagille-syndrome-arteriohepatic-dysplasia
#8
Jen-Hsiang Shen, Kuan-Jen Chen, Nan-Kai Wang
No abstract text is available yet for this article.
August 2017: Ophthalmology
https://www.readbyqxmd.com/read/28710680/development-of-a-novel-tool-to-assess-the-impact-of-itching-in-pediatric-cholestasis
#9
Binita M Kamath, Linda Abetz-Webb, Ciara Kennedy, Bonnie Hepburn, Martha Gauthier, Nathan Johnson, Sharon Medendorp, Alejandro Dorenbaum, Lora Todorova, Benjamin L Shneider
OBJECTIVES: The aim was to develop a clinical outcome assessment (COA) for itching in children with cholestatic pruritus. METHODS: This prospective study aimed to enroll patients aged 4-30 years with Alagille syndrome (ALGS) or progressive familial intrahepatic cholestasis type 1 and caregivers of patients aged 5 months to 14 years. Eligible patients experienced itching during ≥3 of the 7 days before enrollment and had not undergone liver transplant or surgical interruption of the enterohepatic circulation...
July 14, 2017: Patient
https://www.readbyqxmd.com/read/28695677/combined-genetic-analyses-can-achieve-efficient-diagnostic-yields-for-subjects-with-alagille-syndrome-and-incomplete-alagille-syndrome
#10
Kei Ohashi, Takao Togawa, Tokio Sugiura, Koichi Ito, Takeshi Endo, Kohei Aoyama, Yutaka Negishi, Toyoichiro Kudo, Reiko Ito, Shinji Saitoh
AIM: We evaluated combined genetic analyses with targeted next-generation sequencing (NGS), multiplex ligation probe amplification (MLPA) of Jagged1 (JAG1) genes and microarray comparative genomic hybridisation (CGH) in subjects with Alagille syndrome, incomplete clinical features of Alagille syndrome and biliary atresia. METHODS: Subjects recruited from April 2013 to December 2015 underwent a targeted NGS analysis, including JAG1 and Notch homolog 2 (NOTCH2). If no mutations were detected in JAG1 or NOTCH2, or if copy number variations were suggested by the NGS analysis, we performed an MLPA analysis of JAG1...
November 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28683534/a-case-of-alagille-syndrome-presenting-with-chronic-cholestasis-in-an-adult
#11
Jihye Kim, Bumhee Yang, Namyoung Paik, Yon Ho Choe, Yong-Han Paik
Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2...
September 2017: Clinical and Molecular Hepatology
https://www.readbyqxmd.com/read/28660405/xanthogranulomatous-osteomyelitis-of-the-humerus-in-a-pediatric-patient-with-alagille-syndrome-a-case-report-and-literature-review
#12
Adnan Cheema, Alexandre Arkader, Bruce Pawel
Xanthogranulomatous osteomyelitis (XO) is an exceedingly rare disease characterized by infiltration of histiocytes and foamy macrophages. Both on gross examination and on radiographs, XO can mimic malignancy. We describe the case of a 5-year-old female with Alagille syndrome who presented with a pathologic fracture of the right humerus. Initial radiographs revealed multiple osteolytic lesions in the distal humerus while MRI showed a large soft tissue mass. Biopsy confirmed the diagnosis of XO, which has hitherto not been described in a patient with Alagille syndrome...
June 28, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28644566/clinical-characteristics-and-outcome-of-liver-transplantation-for-alagille-syndrome-in-children
#13
Tao Zhou, Jianjun Zhang, Yi Luo, Yuan Liu, Sy Zhuang, Feng Xue, Longzhi Han, Qiang Xia
AIM: The aim of this study was to analyze clinical characteristics and outcome of liver transplantation for Alagille syndrome in children. METHOD: By retrospectively reviewing the medical records of 9 Alagille syndrome patients(AGS) with liver transplantation(LT) in Renji Hospital between 2006 and 2015,After operative,the height and weight Z score were compared with preoperative. RESULT: There were 9 patients included in the study; cholestasis and peculiar faces were seen in all of the patients (100%), heart defect in 8 patients (88...
June 23, 2017: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28600057/molecular-genetic-characterization-of-a-prenatally-detected-de-novo-interstitial-deletion-of-chromosome-20p-20p12-p13-encompassing-jag1-and-a-literature-review-of-prenatal-diagnosis-of-alagille-syndrome
#14
Chih-Ping Chen, Chang-Sheng Yin, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS). CASE REPORT: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal result of combined first-trimester screening. Her husband was 35 years old, and there was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(20)(p12p13), and array comparative genomic hybridization analysis on uncultured amniocytes revealed a 3...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28583322/ocular-findings-in-patients-with-cholestatic-disorders-of-infancy-a-single-centre-experience
#15
Hanaa El-Karaksy, Dalia Hamed, Hanan Fouad, Engy Mogahed, Heba Helmy, Fotouh Hasanain
BACKGROUND AND STUDY AIMS: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome (AGS) and Niemann Pick disease (NPD). We aimed to investigate the frequency of ocular manifestations in infants with cholestasis. PATIENTS AND METHODS: This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision...
June 2, 2017: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/28566723/requirement-for-jagged1-notch2-signaling-in-patterning-the-bones-of-the-mouse-and-human-middle-ear
#16
Camilla S Teng, Hai-Yun Yen, Lindsey Barske, Bea Smith, Juan Llamas, Neil Segil, John Go, Pedro A Sanchez-Lara, Robert E Maxson, J Gage Crump
Whereas Jagged1-Notch2 signaling is known to pattern the sensorineural components of the inner ear, its role in middle ear development has been less clear. We previously reported a role for Jagged-Notch signaling in shaping skeletal elements derived from the first two pharyngeal arches of zebrafish. Here we show a conserved requirement for Jagged1-Notch2 signaling in patterning the stapes and incus middle ear bones derived from the equivalent pharyngeal arches of mammals. Mice lacking Jagged1 or Notch2 in neural crest-derived cells (NCCs) of the pharyngeal arches display a malformed stapes...
May 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526690/emerging-concepts-in-biliary-repair-and-fibrosis
#17
REVIEW
Luca Fabris, Carlo Spirli, Massimiliano Cadamuro, Romina Fiorotto, Mario Strazzabosco
Chronic diseases of the biliary tree (cholangiopathies) represent one of the major unmet needs in clinical hepatology and a significant knowledge gap in liver pathophysiology. The common theme in cholangiopathies is that the target of the disease is the biliary tree. After damage to the biliary epithelium, inflammatory changes stimulate a reparative response with proliferation of cholangiocytes and restoration of the biliary architecture, owing to the reactivation of a variety of morphogenetic signals. Chronic damage and inflammation will ultimately result in pathological repair with generation of biliary fibrosis and clinical progression of the disease...
August 1, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28512196/the-developmental-biology-of-genetic-notch-disorders
#18
REVIEW
Jan Mašek, Emma R Andersson
Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function results in Hajdu-Cheney syndrome, serpentine fibula polycystic kidney syndrome, infantile myofibromatosis and lateral meningocele syndrome...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28504186/alagille-s-syndrome-hypoplasia-of-posterior-semicircular-canals
#19
Alexandre Perez-Girbes, Miguel Mazón, Elena Pont
No abstract text is available yet for this article.
May 11, 2017: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/28492167/management-of-cholestatic-pruritus-in-children-with-alagille-syndrome-case-report-and-literature-review
#20
S Ben Ameur, I Chabchoub, J Telmoudi, Y Belfitouri, O Rebah, F Lacaille, H Aloulou, A Mehrzi, M Hachicha
Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. Drug therapy in addition to surgical intervention may be effective in many patients in reducing serum bile acids, cholesterol levels, pruritus, and skin xanthomas. In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities.
December 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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"