Results 71 to 80 of about 28,186 (243)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

A case report of vanishing bile duct syndrome after exposure to pexidartinib (PLX3397) and paclitaxel. [PDF]

, 2019
Pexidartinib (PLX3397) is a small molecule tyrosine kinase and colony-stimulating factor-1 inhibitor with FDA breakthrough therapy designation for tenosynovial giant-cell tumor, and currently under study in several other tumor types, including breast ...
Chien, A Jo, Esserman, Laura J, Hyland, Colby, Piawah, Sorbarikor, Rugo, Hope S, Umetsu, Sarah E   +5 more
core  

Increased Risk of Intrahepatic Cholestasis of Pregnancy in Women With Systemic Lupus Erythematosus Exposed to Azathioprine

Arthritis &Rheumatology, EarlyView.
Objective To evaluate the risk of intrahepatic cholestasis of pregnancy (ICP) in azathioprine (AZA)–exposed versus unexposed systemic lupus erythematosus (SLE) pregnancies within the multicenter prospective Lupus in Pregnancy (LEGACY) cohort. Methods LEGACY is conducted at Systemic Lupus International Collaborating Clinics in Canada, South Korea, Peru,
Reem Farhat, Maria del Carmen Zamora‐Medina, Sang‐Cheol Bae, Megan R. W. Barber, Ann E. Clarke, Paul R. Fortin, Zahi Touma, Carl A. Laskin, Isabelle Malhamé, Giada Sebastiani, Christine Peschken, Manuel F. Ugarte‐Gil, Alexandra Legge, Sasha Bernatsky, Évelyne Vinet   +14 more
wiley   +1 more source

Serum cystatin C measurement in differential diagnosis of intra and extrahepatic cholestatic diseases

Annals of Hepatology, 2010
Objective. Cystatin C is a very potent inhibitor of cysteine proteinases and, it has been clinically applied as a sensitive marker in monitoring of renal and liver functions.
Mehmet Buyukberber, Dr., Irfan Koruk, Oztekin Cýkman, Mehmet Koruk, Mehmet Emin Küçükoglu, Abdullah Sakman, Omer Demir, Saime Sahinoz   +7 more
doaj   +1 more source

A 19-year-old Patient with Recurrent Pruritus and Jaundice

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2023
Аim: to highlight the importance of broad differential diagnosis and possibility of conversion of benign recurrent intrahepatic cholestasis type 2 into more aggressive clinical phenotype.Key points. A 19-year-old female patient was admitted to the Clinic
K. S. Nezhdanov, E. N. Shirokova, Yu. O. Shulpekova, A. S. Ostrovskaya, M. S. Zharkova, V. T. Ivashkin   +5 more
doaj   +1 more source

The decline of 6‐thioguanine nucleotides is not linked to impaired efficacy or safety of thiopurines in pregnant women with inflammatory bowel disease

British Journal of Clinical Pharmacology, EarlyView.
Background Thiopurines are used to maintain remission in inflammatory bowel disease (IBD). These drugs are metabolized into 6‐thioguanine nucleotides (6‐TGN), associated with efficacy, and 6‐methylmercaptopurine ribonucleotides (6‐MMPR), associated with adverse drug reactions. Pregnancy has been linked to a shift in thiopurine metabolism, characterized
Dianne G. Bouwknegt, Paola Mian, Femke Groen, Denise van den Berg‐Zuiddam, Andrea E. van der Meulen, Femke Crouwel, Nanne K. de Boer, Debbie S. Deben, Dennis R. Wong, Luc J. J. Derijks, Gerard Dijkstra, Arno R. Bourgonje, C. Janneke van der Woude, Marijn C. Visschedijk   +13 more
wiley   +1 more source

Case Report: Intrahepatic cholestasis: a diagnostic dilemma [version 2; peer review: 1 approved, 3 approved with reservations]

Wellcome Open Research
Cholestasis is an impairment of bile formation or bile flow. The mechanisms of cholestasis can be broadly classified into intrahepatic and extrahepatic.
Janak Koirala, Bimal Pandey, Sudeep Adhikari, Ram Chandra Panthi, Buddha Basnyat, Roshan Shrestha, Udit Acharya   +6 more
doaj   +1 more source

Fatal intrahepatic cholestasis

The Turkish Journal of Pediatrics, 1976
A Gürgey, S Ozsoylu, N Koçak
doaj   +2 more sources

A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis [PDF]

, 2017
Background: Some patients exhibit features of both autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC). Similarly, patients with progressive familial intrahepatic cholestasis type 3 (PFIC3) may share histological features with PSC.
Oliveira, Hugo M., Pereira, Cláudia, Pessegueiro-Miranda, Helena, Pinto-Basto, Jorge, Santos-Silva, Ermelinda, Vizcaíno, José R.   +5 more
core   +3 more sources

Intrahepatic cholestasis of pregnancy or azithromycin-induced intrahepatic cholestasis

Medicine, 2017
Azithromycin-induced liver injury has been rarely reported in adult individuals, let alone in a pregnant woman. Here, we describe the clinical features and outcomes of azithromycin-induced liver injury in a pregnant woman.A 30-year-old pregnant woman presented with generalized pruritus and elevated serum bile acid level (123.6 μmol/L) on day 4 of ...
Han, Baoshi, Sheng, Yan, Wang, Li, Feng, Hao, Hou, Xianzeng, Li, Yan   +5 more
openaire   +2 more sources