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There has been a multivitamin infusion (MVI) shortage for the last decade, generating increasing concerns for the neonatal population. This study evaluated a cohort of 4 total parenteral nutrition (TPN)-dependent neonates who presented within a 6-month period with abnormal biochemistry in a complex and unusual pattern. All exhibited findings were suggestive of multiple inherited metabolic disorders (IMD), particularly multiple acyl-CoA dehydrogenase deficiency and maple syrup urine disease. Given the rarity of having 2 IMDs, communication with the primary team was initiated and revealed inadequate MVI in the administered TPN. All biochemical abnormalities could be explained by thiamine (B1), riboflavin (B2), pyridoxine (B6), and/or biotin (B7) deficiency. MVI-deficient TPN as the single unifying etiology is further supported by normal newborn screening (NBS) and resolution of biochemical abnormalities with MVI administration in all neonates. Awareness of this problem is critical to avoid unnecessary testing and initiate prompt treatment with vitamins.
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http://dx.doi.org/10.1177/23247096251339303 | DOI Listing |
Pediatr Nephrol
September 2025
Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
Background: Kidney involvement in pediatric sarcoidosis is rare and often underrecognized, leading to diagnostic delays and treatment challenges. We report six patients with renal sarcoidosis to highlight their diverse presentations and outcomes and challenges in management.
Methods: Medical records of patients diagnosed with renal sarcoidosis during 2020-24 were reviewed.
J Oncol Pharm Pract
September 2025
Department of Clinical Haematology, National Institute of Blood Disease and Bone Marrow Transplantation, Karachi City, Sindh, Pakistan.
IntroductionConditioning regimen-related hepatotoxicity is one of the frequent causes of morbidity and mortality in hematological disorder patients undergoing bone marrow transplantation-the current study aimed to evaluate the effects of conditioning regimens on liver enzymes.MethodsThis observational analytical study was conducted for one year and recruited patients who received conditioning regimens before undergoing Bone Marrow Transplantation for benign hematological disorder [aplastic anemia (AA) and beta-thalassemia major (BTM)]. Pre-and post-transplant assessment particularly liver function test was done.
View Article and Find Full Text PDFInt J Biol Macromol
September 2025
The Affiliated Hospital of Xuzhou Medical University, Xuzhou, 220005, China. Electronic address:
Patients with diabetics usually exhibit disordered glucose and lipid metabolism, as well as disrupted intestinal microecology. Dietary adjustment is essential for controlling diabetes. This study evaluated the ameliorative effects of psyllium-derived medium-molecular-weight arabinoxylan (MMW-AX) on glycolipid biochemical indicators, pathological symptoms, and intestinal microbial diversity in mice with Type 2 diabetes mellitus (T2DM).
View Article and Find Full Text PDFLife Sci
September 2025
Department of Pharmacology, Faculty of Medicine, University of Granada, 18016, Granada, Spain; Institute of Neuroscience, Biomedical Research Center, University of Granada, Armilla, 18100, Granada, Spain; Biosanitary Research Institute ibs.GRANADA, 18012, Granada, Spain. Electronic address: fnieto@u
The sigma-1 receptor (σ1R) is a chaperone involved in multiple physiological and pathological processes, including pain modulation, neuroprotection, and neurodegenerative diseases. Despite its functional significance, its precise roles remain unclear due to the lack of suitable models for detailed mechanistic studies. In this work, we describe the generation and phenotypic characterization of a novel σ1R knockout (σ1R KO) rat model.
View Article and Find Full Text PDFFront Pediatr
August 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Selenocysteine insertion sequence-binding protein 2 () is crucial for the biosynthesis of selenoproteins, including iodothyronine deiodinases, which play a vital role in thyroid hormone metabolism. Mutations in can disrupt thyroid function, leading to various clinical manifestations across multiple systems. We present the case of a 3-year-old Saudi female who was referred for genetic testing due to poor growth, developmental abnormalities, and notable facial dysmorphism.
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