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Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
May 2023
Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined.
View Article and Find Full Text PDFOvotesticular Disorder of Sex Development in Korean Children: A Single-Center Analysis over a 30-Year Period.
J Pediatr Adolesc Gynecol
October 2021
Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea; Institute of Women's Life Science, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address:
Study Objective: To present clinical features that characterize ovotesticular disorder of sex development (OT-DSD) in the Korean population. Among the patient cohort who were initially suspected to have OT-DSD, the actual OT-DSD patients and those of other disorder of sex development were compared.
Design: Retrospective medical chart review of patients who were initially suspected to have OT-DSD from 1984 to 2018 on the basis of clinical examination.
Evaluation of genotoxicity and hematological effects in common carp (Cyprinus carpio) induced by disinfection by-products.
J Water Health
October 2019
Institute of Environmental Sciences and Engineering (IESE), School of Civil and Environmental Engineering (SCEE), National University of Sciences and Technology (NUST), H-12 sector, Islamabad, Pakistan E-mail:
Disinfection is intended to improve drinking water quality and human health. Although disinfectants may transform organic matter and form disinfection by-products (DBPs), many are branded as cyto- and genotoxic. Traditionally, research focuses on the effects of DBPs on human health, but cytogenic impacts on aquatic organisms still remain ill defined.
View Article and Find Full Text PDFEffect of Zingiber officinale on some biochemical parameters and cytogenic analysis in lead-induced toxicity in experimental rats.
Toxicol Mech Methods
May 2019
b Department of Biochemistry, Phytomedicine Research Laboratories , Afe Babalola University, Ado-Ekiti , Nigeria.
Exposure to toxic elements is greatly unavoidable in our daily activities due to several routes of coming in contact with these elements. Thus lead (Pb), is one of the major causes of health hazard in human. In this study, evaluation of Zingiber officinale as mitigating measure against Pb induced biochemical and cytogenic toxicity in albino rats was investigated.
View Article and Find Full Text PDFNovel cytogenic and neurovascular niches due to blood-brain barrier compromise in the chronic pain brain.
Mol Pain
October 2015
Veterans Affairs Palo Alto Health Care System, 3801 Miranda Ave., Palo Alto, CA, 94304, USA.
Background: The mechanisms by which painful injuries are linked to the multitude of pain-related comorbidities and neuroplastic changes in the brain remain poorly understood. Here we propose a model that relies on epi-neuronal communication through the vascular system to effect various brain structures. Specifically, we hypothesize that the differential vulnerability of the blood-brain barrier (BBB) in different brain regions is associated with region-specific neuroplastic and neurovascular changes that are in turn associated with particular pain-related comorbidities.
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