Results 61 to 70 of about 5,184,226 (184)

Menkes Maple Syrup Urine Disease: Treatment

Pediatric Neurology Briefs, 1991
Five patients with maple syrup urine disease were treated intra-venously with branched-chain amino acid-free solution of amino acids during nine episodes of acute illness and are reported from the Children’s Hospital of Philadelphia, PA.
J Gordon Millichap
doaj   +1 more source

Coreopsis tinctoria Nutt. Polyphenols Ameliorate CUMS‐Induced Depressive Behaviors and Hippocampal Neuronal Damage in Mice

Food Science &Nutrition, Volume 14, Issue 10, October 2026.
The capitula of Coreopsis tinctoria Nutt. polyphenol extract (CCTE) attenuate CUMS‐induced depressive‐like behaviors and hippocampal neuronal damage in mice. Three flavonoid aglycones—okanin, isookanin, and taxifolin—cross the blood–brain barrier and synergistically inhibit MAO‐A, restoring serotonergic tone; concurrently, CCTE normalizes HPA‐axis ...
Haixia Han, Yujing Feng, Zhen Wang, Rui Ma, Jingjing Sun, Xiuli Yang, Yue Cui, Juan Wang, Mingxi Jia   +8 more
wiley   +1 more source

Needs, Challenges, and Opportunities for Genetic Counselors in Vietnam: A Qualitative Interview Study With Healthcare Leaders and Genetics Professionals

Journal of Genetic Counseling, Volume 35, Issue 5, October 2026.
ABSTRACT In Vietnam, access to genetic testing has expanded rapidly, but the genetic counseling needed to translate genetic testing results into informed healthcare decisions remains limited. Currently, genetic counseling is provided by physicians or PhD‐trained laboratory geneticists in Vietnam; there are no Master's‐level trained genetic counselors ...
Mai Ly Tran Burke, Peter James B. Abad, Basma M'Barek, Angelica Michelle Raney, Janine S. Bruce, Sylvia Bereknyei Merrell, Hetanshi Naik, Kelly E. Ormond   +7 more
wiley   +1 more source

Menkes disease - New ocular and electroretinographic findings

, 1998
Objective: the authors describe new ocular and electroretinog raphic (ERG) features in Menkes disease.Design: the study design is a case report.Participants: the authors studied two patients with Menkes disease.Intervention: the authors performed ...
Heckenlively, JR, Ferreira, R. C., Menkes, J. H., Bateman, J. B.   +3 more
core   +1 more source

Psychological mediators of the associations between adverse and benevolent childhood experiences and posttraumatic stress disorder (PTSD) and complex PTSD: A systematic review and meta‐analysis

Journal of Traumatic Stress, Volume 39, Issue 5, Page 785-800, October 2026.
Abstract Adverse and benevolent childhood experiences (ACEs and BCEs, respectively) are uniquely associated with posttraumatic stress disorder (PTSD) and complex PTSD (CPTSD); however, there is no systematic review on the mechanisms of these associations.
Sarah Louise Guthrie, Thanos Karatzias, Mark Shevlin, Anna Bak‐Klimek, Amanda Woodrow   +4 more
wiley   +1 more source

Intracranial and extracranial MR angiography in Menkes disease.

, 1997
We report a case of Menkes disease in which brain MR imaging and MR angiography (MRA) were performed. In addition to minimal brain atrophy, severe intracranial and extracranial vascular tortuosity was demonstrated on head and neck MRA.
Suh, JH, Kim, OH
core   +1 more source

Iron and Other Metal Ions in Human Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley   +1 more source

Menkes disease - A rare case report

National Journal of Physiology, Pharmacy and Pharmacology, 2017
Menkes disease (MD) is a rare, lethal multisystemic disorder of copper metabolism characterized by cerebral and cerebellar neurodegeneration, fair skin with peculiar “kinky hair” and connective tissue abnormalities.
Preenumol Thomas, Meenu Mathew, Roshni P R   +2 more
doaj   +1 more source

Hepatocellular Carcinoma Targeted Thermosensitive Cu2+ Liposomes Based on the Cuproptosis Mechanism

MedComm, Volume 7, Issue 10, October 2026.
This study develops galactose‐modified thermosensitive liposomes loaded with copper ions for the treatment of hepatocellular carcinoma. Combined with local tumor hyperthermia, this system delivers copper ions into tumor cells, induces cuproptosis by regulating FDX1 and DLAT expression and disrupting ROS/NADPH homeostasis, and suppresses tumor ...
Hao Yang, Hui Hou, Hong Li, Xianglong Wang, Wei Zhang, Mengsi Yin, Fuyu Zhang, Faxin Zhang, Mingyuan Li, Xiangcheng Wang, Xianggao Zhu   +10 more
wiley   +1 more source

Clinical Epigenomics in Rare Diseases: Interpreting DNA Methylation Episignatures

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
Clinical epigenomics extends rare‐disease diagnostics beyond DNA sequence by revealing the downstream regulatory consequences of genetic variation. DNA methylation episignatures provide functional evidence that can support diagnosis, refine variant interpretation, distinguish overlapping disorders, and complement genomic, and multi‐omic testing ...
Himanshu Goel, Shuxiang Goh, Luke Stuart
wiley   +1 more source