Results 121 to 130 of about 235,104 (268)

Hepatic encephalopathy

, 2012
Chronic liver disease and cirrhosis affect hundreds of millions of patients all over the world. The majority of patients with cirrhosis will eventually develop complications related to portal hypertension.
Wissam Bleibel, Abdullah M. S. Al-Osaimi
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Linking physical stimulation to molecular responses: The role and value of exosomes in mediating the systemic effects of Chinese Tuina

Clinical and Translational Discovery
Chinese Tuina, a fundamental manual therapy technique in traditional Chinese medicine (TCM), treats diseases by applying precisely regulated mechanical forces to the human body.
Lifen Zhan, Ji Zhang, Yiping Chen, Suyu Chen, Xiantao Tai   +4 more
doaj   +1 more source

Bromocriptine-associated ototoxicity [PDF]

, 1984
Three patients treated with bromocriptine for chronic hepatic encephalopathy showed audiometric evidence of bilateral sensori-neural hearing-loss. Audiometrically, the hearing improved in all three patients when the bromocriptine dosage was reduced, thus
Morgan, MY, Ballantyne, J, Lanthier, PL
core  

Increased availability of central benzodiazepine receptors in patients with chronic hepatic encephalopathy and alcohol related cirrhosis

, 2000
BACKGROUND/AIMS To measure cerebral benzodiazepine receptor binding using 11C-flumazenil positron emission tomography in patients with stable chronic hepatic encephalopathy, who were also characterised by proton magnetic resonance spectroscopy.
Turjanski, N., Taylor-Robinson, S.D., Turjanski, N, Richardson, M; id_orcid, Koepp, M.J., Bell, J, Bell, J.D., Wilson, J.A., R Jalan, Brooks, D.J., Jalan, R., Taylor-Robinson, S, Jalan, R, Wilson, J, Richardson, M.P., Brooks, D, Koepp, M   +16 more
core   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Individualized repetitive intravenous immunoglobulin therapy for a 79-year-old patient with GlyR antibody-positive PERM: a case report and literature review

Frontiers in Immunology
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare, life-threatening variant of stiff-person spectrum disorder that is primarily associated with anti-glycine receptor (GlyR) antibodies.
Xiaojun Liu, Jianwei Zhu, Yuanhong Lei, Xinyuan Yu, Xiujuan Mi   +4 more
doaj   +1 more source

Valproate-associated reversible encephalopathy in a 3-year-old girl with Pallister-Killian syndrome

, 2008
Thorsten Gerstner, Nellie Bell, Stephan A KoenigUniversity Children’s Hospital, Mannheim, GermanyAbstract: Valproic acid (VPA) is considered to be a drug of first choice for the therapy of generalized and focal epilepsies, including special ...
Nellie Bell, Stephan A Koenig, Thorsten Gerstner   +2 more
core  

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Relationship between blood pressure level with prognosis of acute ischemic stroke patients treated with intravenous thrombolysis: a systematic review and meta-analysis

BMC Neurology
Background Blood pressure (BP) management after intravenous thrombolysis (IVT) for acute ischemic stroke (AIS) remains challenging, and evidence on how BP levels relate to prognosis is inconsistent.
Yingbin Li, Gan Huang, Shaoxue Li, Haolin Liu, Shengju Li, Xiaoxin Bai, Jun Cai   +6 more
doaj   +1 more source