Results 41 to 50 of about 49,728 (243)

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source

A woman with hepatomegaly

, 2012
A 32-year-old woman was referred because of hepatomegaly of unknown cause. CT and MRI images of the abdomen showed a markedly enlarged right liver lobe extending into the pelvis. A diagnosis of hepatomegaly due to a Riedel's lobe was made.
de Vries, Annemarie C., van Buuren, Henk R., Willemssen, François E.J.A.   +2 more
core   +1 more source

Lipoatrophic diabetes. Report of a case

, 1978
The female patient initially showed the acquired type of total lipoatrophy at about 8 years of age. At 12 years of age, the onset of diabetes mellitus was speculated from advanced pyodermia and dedentition.
Saito, Yoshihito, Sarai, Tetsuo, Ofuji, Tadashi, Aoi, Katsuyuki, Nishina, Yoshiaki, Kawanishi, Koichi   +5 more
core   +1 more source

Umbilical Venous Extravasation in the Liver Mimicking a Hepatic Tumor in a Neonate

Indian Pediatrics Case Reports
Background: Umbilical venous catheter (UVC) malposition is a frequent complication in neonatal intensive care, potentially leading to life-threatening outcomes.
Nandhini Mudiyarasan, Ranjitha Rajendran, Manish Kumar, Muhamed Shabeer   +3 more
doaj   +1 more source

Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene

Frontiers in Genetics, 2022
Objective: Our study aims to summarize and analyze the clinical characteristics of transient infantile hypertriglyceridemia (HTGTI) and variants in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene and the effect of HTGTI on the protein structure of ...
Jun Wang, Jun Wang, Xinrong Sun, Lianying Jiao, Zhengtao Xiao, Farooq Riaz, Yufeng Zhang, Pengfei Xu, Ruiqing Liu, Tiantian Tang, Meiqi Liu, Dongmin Li   +11 more
doaj   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, Accepted Article.
Background Type I interferonopathies are heterogeneous diseases driven by dysregulated IFN‐I signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. Objective To characterize the clinical, immunological, genetic, molecular profiles of patients with suspected enhanced IFN‐I signaling, and assess ...
Ismail Yaz, Seza Ozen, Hacer N. Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet E. Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet O. Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Diagnosis of Mauriac Syndrome in Resource-Limited Settings

Chronicle of Diabetes Research and Practice
Mauriac syndrome (MS) is a rare complication, seen in pediatric patients with uncontrolled type 1 diabetes mellitus (DM) characterized by growth failure and hepatomegaly and is associated with microvascular complications. We describe the case report of a
Mayura Kale, Ganesh Kulkarni, Divakar Kulkarni   +2 more
doaj   +1 more source

A descriptive case series of hepatotoxicity associated with CFTR modulators and possible relevance of pharmacogenetic polymorphisms in cystic fibrosis patients

British Journal of Clinical Pharmacology, EarlyView.
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are widely used in patients with cystic fibrosis and significantly improve respiratory function and quality of life. However, their effectiveness may be limited by liver damage, which sometimes leads to treatment discontinuation, and the mechanisms underlying this remain poorly ...
Clara Laffitte Redondo, Venceslas Bourdin, Abd El Kader Ait Tayeb, Sihem Benaboud, Inès Martins, Caroline Joyau, Myriam Benhamida, Isabelle Sermet‐Gaudelus, Clémence Martin, Pierre Régis Burgel, Céline Verstuyft, Laurent Chouchana, Estelle Ayme‐Dietrich   +12 more
wiley   +1 more source

Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience

Frontiers in Pediatrics
ObjectiveTo evaluate the effectiveness and safety of enzyme replacement therapy (ERT) with velaglucerase alfa, and offer insights into the clinical course of patients with Gaucher disease (GD) that were diagnosed and treated early in life.Study designA ...
Ozlem Goker-Alpan, Margarita M. Ivanova, Ravi Pathak, Ekaterina Wright   +3 more
doaj   +1 more source

Features of the clinical course and approaches to the therapy of norovirus infection in children

Лечащий Врач, 2021
The frequency, nature and duration of extra-intestinal manifestations depending on the therapy in children with norovirus infection were studied. It was found that in norovirus infection in children, in addition to gastrointestinal symptoms, there are ...
R. V. Popova, T. A. Ruzhentsova
doaj