Results 91 to 100 of about 8,895 (193)

Epileptic seizures in cats: practical approaches to diagnosis. [PDF]

J Feline Med Surg
Sivolapenko D, Lowrie M.
europepmc   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies. [PDF]

Neurochem Res
Marcuzzo MB, Benati MPDV, Souza DO, Wajner M, Leipnitz G.   +4 more
europepmc   +1 more source

Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening. [PDF]

Diagnostics (Basel)
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA.   +4 more
europepmc   +1 more source

Investigation of the Mechanism of Cinnamaldehyde in Irritable Bowel Syndrome Based via Network Pharmacology, Molecular Docking, and Animal Experiments

Pediatric Discovery, EarlyView.
Through network pharmacology and molecular docking, it has been discovered that CA can target MAOB, among other proteins, to exert a therapeutic effect in IBS. In vivo, CA lowered visceral hypersensitivity, anxiety and depression‐like behaviors, and fecal water content, highlighting its therapeutic potential for IBS via anti‐inflammatory pathways ...
Qingyang Yu, Boqing Xu, Chunfang Dai, Yayan Pang, Zhifang Dong   +4 more
wiley   +1 more source

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives. [PDF]

Front Nutr
Saini AG, Gunasekaran PK, Prasad AN.
europepmc   +1 more source

Alterations in Metabolites Associated With Umbilical Cord Blood in Monozygotic Twins Discordant for Congenital Heart Disease

Pediatric Discovery, EarlyView.
This study found that the metabolomic signature of umbilical venous cord blood in congenital heart disease (CHD) differs from that of healthy monozygotic (MZ) co‐twins. Dysregulation of metabolic pathways like glucose, lipid, and amino acid metabolism, along with altered metabolites, helps understand CHD predisposition.
Fang Xiang, Xiao Yuan, Yi Yang, Philip N. Baker, Mark D. Kilby, Chao Tong, Xi Yuan   +6 more
wiley   +1 more source

Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation. [PDF]

World J Transplant
Paulin S, Rajakumar A, Menon J, Shanmugam N, Rela M.   +4 more
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

The transformative potential of artificial intelligence in pediatric medicine: Current applications, methodological challenges, and future directions

Pediatric Investigation, EarlyView.
Artificial intelligence (AI) offers transformative potential for paediatric diagnosis and treatment, yet implementation faces unique challenges, including data scarcity, algorithmic bias, and children's developmental physiology. This review examines current applications and charts a path toward transparent, equitable, and trustworthy AI in child health.
Ruisong Wang, Xiaoman Ding, Wanyue Zhang, Tieliu Shi   +3 more
wiley   +1 more source