Results 71 to 80 of about 615,949 (181)

Whole‐exome sequencing for genetic diagnosis of idiopathic liver injury in children

Journal of Cellular and Molecular Medicine, Volume 28, Issue 11, June 2024.
Abstract Genome‐wide approaches, such as whole‐exome sequencing (WES), are widely used to decipher the genetic mechanisms underlying inter‐individual variability in disease susceptibility. We aimed to dissect inborn monogenic determinants of idiopathic liver injury in otherwise healthy children.
Aysima Atılgan Lülecioğlu, Yılmaz Yücehan Yazıcı, Alperen Baran, Khaled Warasnhe, Şengül Beyaz, Caner Aytekin, Figen Özçay, Yusuf Aydemir, Zeren Barış, Serkan Belkaya   +9 more
wiley   +1 more source

Characteristics, clinical laboratory, histopathology, and outcomes of glycogenic hepatopathy in children

JPGN Reports, Volume 5, Issue 2, Page 119-125, May 2024.
Abstract Introduction Glycogenic hepatopathy (GH) is a rare complication of type I diabetes mellitus (DM1), resulting in abnormal deposition of glycogen in the liver due to poor glycemic control. Clinical characteristics and natural history of GH are not completely understood in children. In this study, we investigated clinical, biochemical, histologic
Chaowapong Jarasvaraparn, Iván A. González, Kyla M. Tolliver, Nadine G. Haddad, Jean P. Molleston   +4 more
wiley   +1 more source

Comparing 3 mm and 5 mm laparoscopic liver biopsy samples in dogs

Veterinary Surgery, Volume 53, Issue 4, Page 742-753, May 2024.
Abstract Objective To determine whether 3 mm cup biopsy forceps (CBF) provide equivalent diagnostic samples to 5 mm CBF for histopathologic diagnosis, bacterial culture, and copper quantification. Study design Clinical prospective study. Animals Ten client‐owned dogs, presenting for laparoscopic liver biopsy (LLB).
Philippe Chagnon Larose, Brigitte A. Brisson, Robert A. Foster, Gabrielle Monteith   +3 more
wiley   +1 more source

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series

Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 255-269, March 2024.
Abstract Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4‐alpha‐glucan branching enzyme) deficiency secondary to pathogenic variants on GBE1 gene. The incidence is evaluated to 1:600 000 to 1:800 000 of live
Charles R. Lefèvre, Sophie Collardeau‐Frachon, Nathalie Streichenberger, Sophie Berenguer‐Martin, Alix Clémenson, Jérôme Massardier, Fabienne Prieur, Hélène Laurichesse, Fanny Laffargue, Cécile Acquaviva‐Bourdain, Roseline Froissart, Magali Pettazzoni   +11 more
wiley   +1 more source

NRF2 activates growth factor genes and downstream AKT signaling to induce mouse and human hepatomegaly [PDF]

, 2020
BACKGROUND & AIMS: Hepatomegaly can be triggered by insulin and insulin-unrelated etiologies. Insulin acts via AKT, but how other challenges cause hepatomegaly is unknown.
Sun, Beicheng, Karin, Michael, Taniguchi, Koji, Reina-Campos, Miguel, Duran, Angeles, Roose-Girma, Merone, He, Feng, Diaz-Meco, Maria T, Moscat, Jorge, Yamachika, Shinichiro, Hatzivassiliou, Georgia, Zhang, Zechuan, Umemura, Atsushi, Antonucci, Laura   +13 more
core   +1 more source

Comparison of the diagnostic yield of 3 and 5 mm laparoscopic liver biopsy forceps in cats

Veterinary Surgery, Volume 53, Issue 2, Page 302-310, February 2024.
Abstract Objective To determine whether 3 and 5 mm laparoscopic cup biopsy forceps provide samples of equivalent diagnostic quality in cats. Study design Experimental study. Animals Twelve colony cats undergoing a concurrent nutrition study. Methods Two biopsy forceps (3 and 5 mm) and three biopsy techniques (twist, pull, and twist + pull) were used to
Rachel E. A. Dobberstein, Brigitte A. Brisson, Robert A. Foster, Gabrielle Monteith, Philippe Chagnon Larose, Alexandra Rankovic, Adronie Verbrugghe, Anna Kate Shoveller   +7 more
wiley   +1 more source

Persistent Lactatemia in Mauriac Syndrome

Case Reports in Endocrinology, Volume 2024, Issue 1, 2024.
Mauriac syndrome is a rare disorder that occurs in patients with type 1 diabetes mellitus (T1DM) with glucose levels significantly above target, characterized by hepatomegaly, growth delay, and cushingoid features. Another distinguishing feature of Mauriac syndrome is persistent lactatemia during diabetic ketoacidosis (DKA) management.
Nada El Tobgy, Laura Hinz, Hyunsik Kang
wiley   +1 more source

Control hof the hyperglycemic response to hemorrhage in cats [PDF]

, 1982
Rapid hemorrhage to 50 mmHg (1 mmHg = 133.322 Pa) mean arterial blood pressure led to a rise in blood glucose levels that reached a level of 500 mg% by 15 min and was then maintained with minor decreases for the full period of hemorrhage (90 min).
Rajiva R. Singh, W. Wayne Lautt, Peter D. Dwan   +2 more
core   +1 more source

The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency [PDF]

, 2017
Background:Glycogen synthase deficiency, also known as glycogenosis (GSD) type 0 is an inborn error of glycogen metabolism caused by mutations in theCase presentation:Herein we report three new cases of liver glycogen synthase deficiency (GSD0).
Çiğdem Seher Kasapkara, Zehra Aycan, Serdar Ceylaner, AYCAN, ZEHRA, KASAPKARA, ÇİĞDEM SEHER, Saliha Senel, Acoglu, Esma, Esma Açoğlu, CEYLANER, SERDAR, ŞENEL, SALİHA, Melek Melahat Oguz, Oguz, Melek Melahat   +11 more
core   +1 more source

Viscerotomia hepática (sua contribuição ao estudo da nosologia regional)

Revista da Sociedade Brasileira de Medicina Tropical, 1994
Foi feita uma avaliação histopatológica de 702fragmentos de tecido hepático obtidos pela antiga SUCAM no sul do Estado da Bahia no período que vai de 1981 a 1991. Apenas em 17,7% dos casos ofígadofoi considerado h is to logicamente normal.
Zilton A. Andrade, Aryon A. Barbosa Junior   +1 more
doaj