Inherited metabolic disorders (IMDs) pose various obstetric challenges. In this study investigates the prenatal and perinatal profiles of pregnancies affected by IMDs and examines their obstetric outcomes. The most frequently observed antepartum issues identified among 996 patients with IMDs were intrauterine growth restriction (IUGR), intrauterine microcephaly and oligohydramnios. It was notable that mitochondrial disorders are associated with increased incidence of oligohydramnios ( = 0.010), IUGR ( < 0.001), microcephaly ( < 0.001) and intrauterine cardiac issues ( = 0.002). Furthermore, the incidence of intrauterine and natal facial malformations was significantly elevated in the patient groups with mitochondrial ( < 0.001) and lysosomal/peroxisomal diseases ( = 0.037) when compared to the other IMD groups. The mothers of newborns with mitochondrial diseases developed significantly more complications during previous pregnancies than those with other diagnoses ( = 0.040). Identifying risk factors and complications early on can greatly improve outcomes for both mother and infant by facilitating timely intervention and treatment.
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http://dx.doi.org/10.1080/15513815.2024.2447082 | DOI Listing |
Postgrad Med J
January 2025
Department of Pediatric Metabolic Diseases, University of Health Sciences, Ankara Etlik City Hospital, Ankara 06170, Turkey.
Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused by defects in the production and breakdown of proteins, fats, and carbohydrates. Micro ribonucleic acids (miRNAs) are short non-coding RNA molecules, ⁓19-25 nucleotides long, hairpin-shaped, produced from DNA.
View Article and Find Full Text PDFMicrobes of nearly every species can form biofilms, communities of cells bound together by a self-produced matrix. It is not understood how variation at the cellular level impacts putatively beneficial, colony-level behaviors, such as cell-to-cell signaling. Here we investigate this problem with an agent-based computational model of metabolically driven electrochemical signaling in Bacillus subtilis biofilms.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDFRen Fail
December 2025
The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, Guangdong Province, China.
The TyG index serves as a valuable tool for evaluating insulin resistance. An elevated TyG has shown a strong association with the occurrence of acute kidney injury (AKI). Nevertheless, existing literature does not address the relationship between the TyG index and acute kidney injury in patients with sepsis.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
Background: Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected.
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