Results 71 to 80 of about 107,736 (386)

Pancreatogram in cholestasis. [PDF]

Gut, 1984
Endoscopic retrograde pancreatograms have been examined in patients presenting with cholestasis caused by either primary sclerosing cholangitis (13 subjects), or high cholangiocarcinomata (15 subjects), and in normal individuals (13 subjects). Pancreatograms were reported by two independent observers who had no knowledge of the diagnosis in any case ...
M Chapman, K R Palmer, P B Cotton
openaire   +2 more sources

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Nature Communications, 2016
Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases.
N. Gomez-Ospina, C. Potter, Rui Xiao, Kandamurugu Manickam, Mi‐Sun Kim, K. Kim, B. Shneider, J. Picarsic, Theodora Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A. Knisely, M. Finegold, D. Muzny, E. Boerwinkle, J. Lupski, S. Plon, R. Gibbs, C. Eng, Yaping Yang, Gabriel Washington, M. Porteus, W. Berquist, N. Kambham, Ravinder J Singh, F. Xia, G. Enns, D. Moore   +28 more
semanticscholar   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Correlation between Maternal Infection and Infant Cholestasis

Juxta: Jurnal Ilmiah Mahasiswa Kedokteran Universitas Airlangga, 2021
Introduction: Infant cholestasis has been associated to viral infection. Cytomegalovirus in the pathogenesis of neonatal hepatitis has been already known and it is one of the possible etiological of biliary atresia.
Liofelita Christi Adhi Mulia, I Gusti Made Reza Gunadi Ranuh, Ernawati Ernawati   +2 more
doaj   +1 more source

Neonatal Cholestasis [PDF]

NeoReviews, 2013
Cholestatic jaundice is a common presenting feature of neonatal hepatobiliary and metabolic dysfunction. Any infant who remains jaundiced beyond age 2 to 3 weeks should have the serum bilirubin level fractionated into a conjugated (direct) and unconjugated (indirect) portion. Conjugated hyperbilirubinemia is never physiologic or normal.
Amy G, Feldman, Ronald J, Sokol
openaire   +2 more sources

Cholestasis Due to USP53 Deficiency

Journal of Pediatric Gastroenterology and Nutrition - JPGN, 2020
Objectives: Although a number of genetic forms of cholestasis have been identified, the genetic etiology of disease remains unidentified in a subset of cholestasis patients.
L. Bull, Rebecca Ellmers, P. Foskett, S. Strautnieks, Melissa Sambrotta, P. Czubkowski, I. Jankowska, B. Wagner, M. Deheragoda, Richard J. Thompson   +9 more
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Sepsis as a cause of intrahepatic cholestasis [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2009
Introduction. The causes of intrahepatic cholestasis include cholestatic viral hepatitis, primary biliary cirrhosis, benign recurrent cholestasis, primary sclerosing cholangitis and sepsis.
Rudić Jelena, Ješić Rada, Ćulafić Đorđe, Šarenac-Kovač Radmila, Bulat Vladislava, Cvejić Tatjana   +5 more
doaj   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source