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1989 1
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46 results

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Page 1
High Risk Acetaminophen Ingestion in a Nine-Month-Old Requiring Hemodialysis: A Case Report.
Mero C, Haan R, Tamimi SA, Gonzalez VB, Penfil S, Schultz BRE. Mero C, et al. Pediatr Emerg Care. 2026 Apr 8. doi: 10.1097/PEC.0000000000003598. Online ahead of print. Pediatr Emerg Care. 2026. PMID: 41947576
BACKGROUND: High-risk acetaminophen (APAP) overdose in infants is rare but may result in rapid metabolic deterioration due to early mitochondrial dysfunction. Prompt recognition and aggressive intervention are essential for survival, yet pediatric-specific management strat …
BACKGROUND: High-risk acetaminophen (APAP) overdose in infants is rare but may result in rapid metabolic deterioration due to early mitoc …
Closing the gap before using L-lactate to guide newborn care.
Roumes H, Ibrahim IO, Beauvieux MC, Perrot C, Brissaud O, Cramaregeas S, Dumas-de-la-Roque E, Pellerin L, Chateil JF, Tandonnet O, Bouzier-Sore AK. Roumes H, et al. Pediatr Res. 2026 Jan;99(1):38-40. doi: 10.1038/s41390-025-04504-0. Epub 2025 Oct 16. Pediatr Res. 2026. PMID: 41102470 Free article.
Our study demonstrated that NaL improved acid-base balance without adverse effects, likely through lactate's conversion to bicarbonate and potential support for mitochondrial function. The commentary further explores NaL's translational relevance in neonatal hypoxia-ischem …
Our study demonstrated that NaL improved acid-base balance without adverse effects, likely through lactate's conversion to bicarbonate and p …
Causes of and Solutions to Mitochondrial Disorders: A Literature Review.
Belousova V, Ignatko I, Bogomazova I, Sosnova E, Pesegova S, Samusevich A, Zarova E, Kardanova M, Skorobogatova O, Maltseva A. Belousova V, et al. Int J Mol Sci. 2025 Jul 11;26(14):6645. doi: 10.3390/ijms26146645. Int J Mol Sci. 2025. PMID: 40724895 Free PMC article. Review.
There are two main trends of mitochondrial therapy: mitochondrial replacement therapy (MRT) and mitochondrial transplantation therapy (MTT). ...In addition, a new technology, mitochondrial transplantation therapy (MTT …
There are two main trends of mitochondrial therapy: mitochondrial replacement therapy (MRT) and mitoch …
Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease.
McFarland R, Hyslop LA, Feeney C, Pillai RN, Blakely EL, Moody E, Prior M, Devlin A, Taylor RW, Herbert M, Choudhary M, Stewart JA, Turnbull DM. McFarland R, et al. N Engl J Med. 2025 Jul 31;393(5):461-468. doi: 10.1056/NEJMoa2503658. Epub 2025 Jul 16. N Engl J Med. 2025. PMID: 40689593 Free PMC article.
Pathogenic variants in mitochondrial DNA (mtDNA) are a common cause of severe, often fatal, inherited metabolic disease. ...A total of 22 women with pathogenic mtDNA variants have commenced or completed pronuclear transfer (and thus receipt of a mitochondrial donati …
Pathogenic variants in mitochondrial DNA (mtDNA) are a common cause of severe, often fatal, inherited metabolic disease. ...A total o …
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease.
Hyslop LA, Blakely EL, Aushev M, Marley J, Takeda Y, Pyle A, Moody E, Feeney C, Dutton J, Shaw C, Smith SJ, Craig K, Alston CL, Lister L, Endacott K, Byerley S, McDermott H, Wilson K, Botham L, Matthew B, Prathalingam N, Prior M, Murdoch A, Turnbull DM, Hudson G, Choudhary M, Taylor RW, Pillai RN, Stewart JA, McFarland R, Herbert M. Hyslop LA, et al. N Engl J Med. 2025 Jul 31;393(5):438-449. doi: 10.1056/NEJMoa2415539. Epub 2025 Jul 16. N Engl J Med. 2025. PMID: 40673696 Free PMC article.
BACKGROUND: Children born to women who carry pathogenic variants in mitochondrial DNA (mtDNA) are at risk for a range of clinical syndromes collectively known as mtDNA disease. Mitochondrial donation by pronuclear transfer involves transplantation of nuclear genome …
BACKGROUND: Children born to women who carry pathogenic variants in mitochondrial DNA (mtDNA) are at risk for a range of clinical syn …
Cardiac pathology in a patient with a novel pathogenic variant c.703del (p.Ile235SerfsTer4) of the TAFAZZIN gene.
Prasanpanich M, Husain M, Halnon NJ, Chang R, Zadeh N, Knight J, Fishbein GA. Prasanpanich M, et al. Cardiovasc Pathol. 2025 Nov-Dec;79:107749. doi: 10.1016/j.carpath.2025.107749. Epub 2025 Jul 10. Cardiovasc Pathol. 2025. PMID: 40645388 Free article.
INTRODUCTION: Barth syndrome is a mitochondrial disease caused by loss-of-function mutations in the TAFAZZIN gene located on chromosome Xq28 encoding a transacylase essential for cardiolipin remodeling. ...Ultrastructurally, mitochondria displayed megaconia and replacem …
INTRODUCTION: Barth syndrome is a mitochondrial disease caused by loss-of-function mutations in the TAFAZZIN gene located on chromoso …
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.
Moreno CAM, Artilheiro MC, Fonseca ATQSM, da Silva AMS, Fernandes TR, Camelo CG, Paiva MA, di Pace FT, Pessoa ALS, Braga VLL, Mariano TC, de Paula Estephan E, da Penha Morita M, Covaleski APPM, Van der Linden V, Tomaselli PJ, Scarpellini GR, Gurgel-Giannetti J, Sobrinho LMF, de Oliveira TM, Mendonça RH, Lucas ELS, Cruzeiro MM, Junior CWP, Júnior WM, Sobreira CFDR, Oliveira ASB, Kok F, Hirano M, Nascimento-Osorio A, Schlesinger D, Zanoteli E. Moreno CAM, et al. Sci Rep. 2025 Mar 15;15(1):9013. doi: 10.1038/s41598-024-84373-5. Sci Rep. 2025. PMID: 40089535 Free PMC article.
For a disease with unspecific clinical findings, and the possibility of a supplementation therapy that changes the natural history of the disease, highlighting clinical features that increase suspicion and accelerate diagnosis is essential. ...Motor and respiratory assessm …
For a disease with unspecific clinical findings, and the possibility of a supplementation therapy that changes the natural history of …
Study of clinical manifestations and etiologies of megaloblastic anemia in children.
Belhaj R, Maaloul I, Kolsi R, Rekik T, Chabchoub I, Aloulou H, Kamoun T. Belhaj R, et al. Transfus Clin Biol. 2025 May;32(2):159-163. doi: 10.1016/j.tracli.2025.01.006. Epub 2025 Jan 20. Transfus Clin Biol. 2025. PMID: 39842709
The etiological investigations revealed a vitamin B12 deficiency secondary to a maternal Biermer's disease (6 cases), malnutrition (3 cases), Imerslund's disease (3 cases), congenital deficiency in transcobalamin II (3 cases), Biermer's disease (1 case), giardiasis (1 case), foli …
The etiological investigations revealed a vitamin B12 deficiency secondary to a maternal Biermer's disease (6 cases), malnutrition (3 cases) …
The three-parent baby: Medicolegal, forensic and ethical concerns.
Chitara N, Krishan K, Kanchan T. Chitara N, et al. Med Sci Law. 2025 Jan;65(1):71-76. doi: 10.1177/00258024241266566. Epub 2024 Jul 26. Med Sci Law. 2025. PMID: 39056221
Scientists and researchers developed a technique known as mitochondrial donation technique or mitochondrial replacement therapy (MRT) to combat with the mtDNA mutations. The technique relies on the replacement of faulty mitochondria in the mothe …
Scientists and researchers developed a technique known as mitochondrial donation technique or mitochondrial replacement …
Interplay between mitochondrial dysfunction and lysosomal storage: challenges in genetic metabolic muscle diseases with a focus on infantile onset Pompe disease.
Zhang M, Niu J, Xu M, Wei E, Liu P, Sheng G. Zhang M, et al. Front Cardiovasc Med. 2024 Feb 20;11:1367108. doi: 10.3389/fcvm.2024.1367108. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 38450370 Free PMC article.
RESULTS: The study revealed that a 5-month-old male infant was admitted due to fever, with physical examination finding abnormal cardiopulmonary function and hepatomegaly. ...Further genetic testing identified a homozygous mutation c.2662G>T (p.E888) in the GAA gene, le …
RESULTS: The study revealed that a 5-month-old male infant was admitted due to fever, with physical examination finding abnormal card …
46 results