Results 41 to 50 of about 9,482 (191)

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Diverting the Diagnosis: A Case Report of Hemodialysis Masking the Etiology of Hyperammonemia

Canadian Journal of Kidney Health and Disease
Rationale: Hyperammonemia in patients receiving hemodialysis is uncommon but poses a significant clinical challenge due to the effective clearance of ammonia by dialysis, which can obscure the underlying cause.
Adina Landsberg, Anukul Ghimire, Nicholas L. Li, Tyrone G. Harrison   +3 more
doaj   +1 more source

Topiramate-Related Hyperammonemia [PDF]

Journal of Pharmacy Technology, 2015
Objective: To report a case of hyperammonemia associated with the interaction between topiramate and valproic acid. Case Summary: We present a patient case with topiramate-related hyperammonemia. The patient was on topiramate prior to admission and presented with an elevated ammonia level following 2 doses of valproic acid.
Kelly, Moore, Deepali, Dixit, Mary, Wagner   +2 more
openaire   +2 more sources

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Prognostic Role of Ammonia in Critical Care Patients Without Known Hepatic Disease

Frontiers in Medicine, 2020
Background and Aims: Hyperammonemia usually develops because of hepatic disease, but it may occur in patients with non-hepatic hyperammonemia (NHH). But, studies on the prognosis and possible risk factors of this disorder are lacking.
Lina Zhao, Joseph Harold Walline, Yanxia Gao, Xin Lu, Shiyuan Yu, Zengzheng Ge, Huadong Zhu, Yi Li   +7 more
doaj   +1 more source

Ureaplasma urealyticum infection presenting as altered mental status in a post-chemotherapy patient: Case report and literature review

Frontiers in Medicine, 2022
Hyperammonemia due to Ureaplasma infection is rare but often fatal, largely due to the delayed recognition, diagnosis, and treatment of the condition. It has mostly been described in solid organ transplant patients in the literature.
Eunice J. Y. Kok, Y. L. Lee
doaj   +1 more source

Hyperammonemia in a carbamoyl-phosphate synthetase 1 deficiency recipient after living-donor liver transplantation from a carrier donor: a case report

Frontiers in Medicine
Carbamoyl-phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive congenital urea cycle disorder (UCD) characterized by hyperammonemia. The recipients of liver transplantation (LT) for UCD are often children, and the potential donors are often
Toshihiko Kakiuchi, Tetsuya Nosho, Masafumi Oka, Katsuya Tashiro   +3 more
doaj   +1 more source

Regulatory Effects of Ammonium Chloride in an In Vitro Model of Hepatic Encephalopathy: Mechanisms Involving ACTA2‐Mediated Cytoskeletal Remodeling

iLABMED, EarlyView.
Hyperammonemic stress suppresses ACTA2 expression and induces F‐actin cytoskeletal remodeling in astrocytes. The resulting inhibition of FAK/c‐Src signaling contributes to apoptosis, G2/M arrest, AQP4‐mediated swelling and junction‐associated proteins dysregulation, revealing a central role for ACTA2‐dependent cytoskeletal dysfunction in hepatic ...
Yue Tang, Jia Liu, Chengrong Bian, Wenwen Yuan, Wang Zhang, Fan Feng, Boan Li   +6 more
wiley   +1 more source

Renal replacement therapy in neonates with an inborn error of metabolism [PDF]

Korean Journal of Pediatrics, 2019
Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism.
Heeyeon Cho
doaj   +1 more source

Engineering Bacteria for Medicine: Delivery, Diagnosis, and Therapy

iMetaMed, EarlyView.
ABSTRACT With rapid advances in synthetic biology and genetic engineering, genetically engineered bacteria (GEB) have emerged as a promising platform for biological therapy, addressing key limitations of conventional drug delivery systems and demonstrating significant clinical potential.
Shiyu Xia, Guiling Fu, Xiaoyue Ding, Wen Yang, Ruijie Bai, Yawei Cai, Jing xuan Zhang, Yanxia Wei, Conghui Han, Yi‐Zhou Gao, Ying Li, Zuobin Zhu   +11 more
wiley   +1 more source