Results 101 to 110 of about 49,728 (243)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1850-1855, August 2026.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1807-1813, August 2026.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Log odds ratio for post-treatment hepatomegaly, according to egg reduction rates achieved, by hepatic lobe.

, 2017
The figure panels show the log10 of the post-treatment/pre-treatment odds ratio of morbidity, according to each study’s treatment mediated egg reduction rate (ERR), as related to hepatomegaly in the right lobe (upper left panel), n = 11, in the left lobe
Andrea Gazzinelli (169153), Charles H. King (78462), David J. Bertsch (3756760), Gisele Andrade (3756763)   +3 more
core   +1 more source

Sinusoidal Obstruction Syndrome With Inotuzumab Ozogamicin Combined With Ponatinib for Philadelphia‐Chromosome‐Positive Lymphoblastic Malignancies

eJHaem, Volume 7, Issue 4, August 2026.
ABSTRACT Introduction Sinusoidal obstruction syndrome, also known as veno‐occlusive disease (SOS/VOD), can occur after exposure to inotuzumab ozogamicin (InO), a calicheamicin‐based antibody‐drug conjugate. Case Presentation We experienced two cases of SOS/VOD after treatment with InO combined with intermittent administration of ponatinib without ...
Emi Yokoyama, Satoshi Ota, Yasuo Sakurai, Toma Suzuki, Naoki Miyashita, Minoru Kanaya, Koh Izumiyama, Makoto Saito, Masanobu Morioka, Akio Mori, Takeshi Kondo   +10 more
wiley   +1 more source

Clinical and CT/MRI features of hepatic AL amyloidosis: preliminary experience in 10 cases

Frontiers in Oncology
PurposeTo identify the key clinical and imaging clues on computed tomography (CT) and magnetic resonance imaging (MRI) that can suggest the diagnosis of hepatic AL amyloidosis, thereby improving diagnostic accuracy and timely recognition among peers ...
Yanyan Zhang, Wei Wang, Wenyan Song, Jing Chang, Hongjun Li   +4 more
doaj   +1 more source

Bone Marrow Pathology in Cold Agglutinin‐Mediated Autoimmune Hemolytic Anemia: A Study of 56 Cases

European Journal of Haematology, Volume 117, Issue 2, Page 384-395, August 2026.
ABSTRACT Cold agglutinin disease (CAD) is a rare form of autoimmune hemolytic anemia (AIHA). CAD occurs in the context of a small clonal B‐cell lymphoproliferation restricted to blood and/or bone marrow (BM), without overt or extramedullary lymphoma. The WHO‐HAEM5 introduced a description of the CAD‐associated lymphoproliferative disorder (CAD‐LPD) in ...
Anne‐Marie L. Becking, Sophie J. Bernelot Moens, Marie José Kersten, Femke V. M. Mulder, Steven T. Pals, Lianne Koens, Josephine M. I. Vos   +6 more
wiley   +1 more source

Features of gastrointestinal disorders in children with multisystem inflammatory syndrome associated with COVID-19

Якутский медицинский журнал
Resume. Gastrointestinal tract damage is a part of the course of multisystem inflammatory syndrome in children (MVS-D) associated with the new COVID-19 coronavirus infection.
I. S. Avrusin, K. E. Belozerov, O. S. Efremova, L. V. Bregel, E. A. Dondurey, A. A. Vilnits, K. O. Novgorodova, T. E. Burtseva, T. G. Dmitrieva, T. L. Kornishina, V. V. Masalova, O. V. Kalashnikova, S. L. Avrusin, O. L. Kolobova, I. V. Solodkova, V. G. Chasnyk, M. M. Kostik   +16 more
doaj   +1 more source

Vectors and Vector‐Borne Diseases: Biology, Epidemiology and Integrated Control Strategies

Journal of Applied Entomology, Volume 150, Issue 7, Page 990-1015, August 2026.
ABSTRACT Vector‐Borne Diseases (VBDs), transmitted by arthropods such as mosquitoes, ticks, fleas and sandflies, represent a significant threat to global health. These diseases can be caused by a variety of pathogens, including bacteria, viruses, protozoa, and helminths.
Roberta Rinaldi, Carmen Scieuzo, Federica De Stefano, Luca Masucci, Patrizia Falabella   +4 more
wiley   +1 more source

Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice

, 2010
With the notable exception of humans, uric acid is degraded to (S)-allantoin in a biochemical pathway catalyzed by urate oxidase, 5-hydroxyisourate (HIU) hydrolase, and 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase in most ...
Jian-Guo Zhang, Phillip O. Morgan, William S. Stevenson, Sarah Hennebry, Nicos A. Nicola, Warren S. Alexander, Craig D. Hyland, Anthony Gill, Adrienne A. Hilton, Tracy A. Willson, Andrew W. Roberts, Donald Metcalf, Melanie Bahlo, Samantha J. Richardson, Seth L. Masters, Douglas J. Hilton, Elizabeth M. Viney   +16 more
core   +1 more source

A Rare Case of Glycogenic Hepatopathy in a Child with Type 1 Diabetes: Reversible with Glycemic Control

Journal of Diabetology
Glycogenic hepatopathy (GH) is an uncommon complication associated with poorly controlled diabetes mellitus (DM), more often with type 1 DM as compared to type 2 DM and is characterized by an enlarged liver and temporary increases in serum ...
Prabhat K. Agrawal, Sandipta K. Panda, Gaurav Gupta, Naveen Verma   +3 more
doaj   +1 more source