Results 41 to 50 of about 9,669 (210)

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 of Markedly Elevated Isolated Alkaline Phosphatase in the Third Trimester of Pregnancy

Case Reports in Obstetrics and Gynecology, 2022
Background. Alkaline phosphatase (ALP) is an enzyme produced by the liver, small intestine, bone, and kidneys as well as the placenta during pregnancy. ALP levels may increase up to twice the normal limit during pregnancy secondary to placental release ...
Courtney T. Connolly, Olivia Grubman, Zainab Al-Ibraheemi, Tatyana Kushner   +3 more
doaj   +1 more source

Prognostic and Mechanistic Potential of Progesterone Sulfates in Intrahepatic Cholestasis of Pregnancy and Pruritus Gravidarum

, 2015
A challenge in obstetrics is to distinguish pathological symptoms from those associated with normal changes of pregnancy, typified by the need to differentiate whether gestational pruritus of the skin is an early symptom of intrahepatic cholestasis of ...
Abu-Hayyeh, S, Beuers, U, Bolier, R, Bunnett, NW, Chambers, J, Chappell, L, Dixon, PH, Jensen, DD, Kremer, AE, Lieu, T, Lovgren-Sandblom, A, Marin, JJG, Marschall, H-U, Monte, MJ, Nicolaides, KH, Noori, M, Oude-Elferink, R, Ovadia, C, Seed, PT, Syngelaki, A, Tolenaars, D, Williams, D, Williamson, C   +22 more
core   +1 more source

A Randomized, Controlled, Phase 2 Study of Maralixibat in the Treatment of Itching Associated With Primary Biliary Cholangitis. [PDF]

, 2019
Primary biliary cholangitis (PBC) is typically associated with elevated serum bile acid levels and pruritus, but pruritus is often refractory to treatment with existing therapies.
Apostol, George, Bacon, Bruce, Bowlus, Christopher L, Dorenbaum, Alejandro, Gu, Joan, Hirschfield, Gideon M, Jones, David, Kennedy, Ciara, Levy, Cynthia, Luketic, Velimir, Mayo, Marlyn J, Medendorp, Sharon, Novak, Patricia, Patanwala, Imran, Pockros, Paul J, Vuppalanchi, Raj   +15 more
core   +2 more sources

Increased Risk of Intrahepatic Cholestasis of Pregnancy in SLE Women Exposed to Azathioprine

Arthritis &Rheumatology, Accepted Article.
Objectives To evaluate the risk of intrahepatic cholestasis of pregnancy (ICP) in azathioprine (AZA)‐exposed versus unexposed SLE pregnancies within the multi‐centre prospective Lupus in prEGnAnCY (LEGACY) cohort. Methods LEGACY is conducted at Systemic Lupus International Collaborating Centres in Canada, South Korea, Peru, and Mexico.
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

Clinical aspects of pregnancy and childbirth in women with intrahepatic cholestasis of pregnancy

One Health & Risk Management
Introduction. Intrahepatic cholestasis of pregnancy (ICP) is a liver pathology that has negative impact on progression of pregnancy and childbirth in affected women.
Maria CEMORTAN, Irina SAGAIDAC, Corina ILIADI-TULBURE, Olga CERNETCHI   +3 more
doaj   +1 more source

Intrahepatic cholestasis of pregnancy: case report

Revista Médica de Minas Gerais, 2023
Objective: to report the pregnancy outcome of a patient with intrahepatic cholestasis treated at a public service in northern Brazil. Case Report: primiparous, 24 years old, mixed race, gestational age of 29 weeks, referred intense body pruritus ...
Rodolfo Ribeiro de Jesus, Marinalva Silva de Souza   +1 more
doaj   +1 more source

Genetic variants associated with gastrointestinal symptoms in Fabry disease. [PDF]

, 2016
Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A.
Agapito, Giuseppe, Altomare, Federica, Arbitrio, Mariamena, Borrelli, Osvaldo, Concolino, Daniela, Di Martino, Maria Teresa, Guzzi, Pietro Hiram, Nicoletti, Angela, Pensabene, Licia, Pisani, Antonio, Riccio, Eleonora, Sanseviero, Maria Teresa, Scionti, Francesca, Sestito, Simona, Talarico, Valentina   +14 more
core   +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

Perinatal outcomes of intrahepatic cholestasis during pregnancy: An 8-year case-control study.

PLoS ONE, 2020
INTRODUCTION:Previous studies of fetal effects have suggested that intrahepatic cholestasis of pregnancy is associated with a higher rate of adverse neonatal outcomes including preterm birth, neonatal respiratory distress syndrome, meconium-stained ...
Chloé Arthuis, Caroline Diguisto, Henri Lorphelin, Vincent Dochez, Emmanuel Simon, Franck Perrotin, Norbert Winer   +6 more
doaj   +1 more source