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| http://dx.doi.org/10.1016/j.ekir.2021.07.003 | DOI Listing |
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[Pediatric cardiac allograft transplantation: a clinicopathological study of twelve recipient hearts].
Zhonghua Bing Li Xue Za Zhi
January 2025
Department of Pathology, the Seventh Medical Center of People's Liberation Army of China General Hospital, Beijing100700, China.
To analyze the morphologic changes and the extent of severity in end-stage heart disease; and to explore the correlation with their clinical features. Twelve cases of recipients who underwent pediatric cardiac allograft transplantation were collected from May 2022 to November 2023 at the Seventh Medical Center of People's Liberation Army of China General Hospital. Gross pathologic examinations were performed and morphological changes were observed under a light microscope after HE, Masson's trichrome, and reticulin staining.
View Article and Find Full Text PDFInfantile Fructose-1,6-Bisphosphatase Deficiency Masquerading as Mitochondriopathy.
Cureus
August 2024
Paediatrics, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS) Saveetha University, Chennai, IND.
Article Synopsis
- Fructose-1,6-bisphosphatase 1 (FBP1) deficiency is a rare genetic disorder affecting gluconeogenesis, leading to severe hypoglycemia and lactic acidosis in infants.
- A case study of a 1.5-year-old girl revealed symptoms like vomiting and failure to thrive, ultimately diagnosed through genetic testing that confirmed a mutation in the FBP1 gene.
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FDXR variants cause adrenal insufficiency and atypical sexual development.
JCI Insight
June 2024
Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, and.
Genetic defects affecting steroid biosynthesis cause cortisol deficiency and differences of sex development; among these defects are recessive mutations in the steroidogenic enzymes CYP11A1 and CYP11B, whose function is supported by reducing equivalents donated by ferredoxin reductase (FDXR) and ferredoxin. So far, mutations in the mitochondrial flavoprotein FDXR have been associated with a progressive neuropathic mitochondriopathy named FDXR-related mitochondriopathy (FRM), but cortisol insufficiency has not been documented. However, patients with FRM often experience worsening or demise following stress associated with infections.
View Article and Find Full Text PDFWe present the case of 11 years of severe malabsorption, muscular atrophy, seizures, and immunodeficiency resolved after proximal intercessory prayer (PIP). A male infant suffered from severe abdominal pain and impaired development with the introduction of solid food at age five months. The patient had previously appeared healthy, having been born to term and breastfed.
View Article and Find Full Text PDFMitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease.
Int J Mol Sci
January 2024
Department of Psychiatry and Psychotherapy, University of Regensburg, 93053 Regensburg, Germany.
The link between mitochondria and major depressive disorder (MDD) is increasingly evident, underscored both by mitochondria's involvement in many mechanisms identified in depression and the high prevalence of MDD in individuals with mitochondrial disorders. Mitochondrial functions and energy metabolism are increasingly considered to be involved in MDD's pathogenesis. This study focused on cellular and mitochondrial (dys)function in two atypical cases: an antidepressant non-responding MDD patient ("Non-R") and another with an unexplained mitochondrial disorder ("Mito").
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