Osteochondral Allograft or Autograft Transplantation of the Femoral Head Leads to Improvement in Outcomes but Variable Survivorship: A Systematic Review.

Purpose: To review patient-reported outcomes (PROs) and survivorship in patients undergoing osteochondral autograft or allograft transplantation (OAT) of the femoral head.

Methods: PubMed, Cochrane Center for Register of Controlled Trials, and Scopus databases were searched in November 2022 with an updated search extending to December 2023 using criteria from the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and the following keywords: (hip OR femoral head) AND (mosaicplasty OR osteochondral allograft OR osteochondral autograft OR osteochondral lesion). Articles were included if they evaluated postoperative PROs in patients who underwent OAT of the femoral head and had a study size of 5 or more hips (n ≥ 5).

Patients Undergoing Revision Hip Arthroscopy With Labral Reconstruction or Augmentation Demonstrate Favorable Patient Reported Outcomes: A Systematic Review.

Purpose: To review current literature evaluating patient-reported outcomes (PROs) and survivorship in patients undergoing revision hip arthroscopy with labral reconstruction or augmentation.

Methods: A systematic review was performed with the following key words: (revision) AND (hip OR femoroacetabular impingement) AND (arthroscopy OR arthroscopic) AND (reconstruction OR augmentation OR irreparable). PubMed, Cochrane Trials, and Scopus were queried in October 2022 using the criteria established in the Preferred Reporting Items for Systematic Reviews and Meta-analyses.

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.

Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5'-deoxy-adenosylcobalamin. It is characterized by life-threatening episodes of ketoacidosis, chronic kidney disease, and other multiorgan complications. Liver transplantation can improve patient stability and survival and thus provides clinical and biochemical benchmarks for the development of hepatocyte-targeted genomic therapies.

1-C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).

Purpose: To develop a safe and noninvasive in vivo assay of hepatic propionate oxidative capacity.

Methods: A modified 1-C-propionate breath test was administered to 57 methylmalonic acidemia (MMA) subjects, including 19 transplant recipients, and 16 healthy volunteers. Isotopomer enrichment (CO/CO) was measured in exhaled breath after an enteral bolus of sodium-1-C-propionate, and normalized for CO production.

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.

Methylmalonic acidemia (MMA), an organic acidemia characterized by metabolic instability and multiorgan complications, is most frequently caused by mutations in methylmalonyl-CoA mutase (MUT). To define the metabolic adaptations in MMA in acute and chronic settings, we studied a mouse model generated by transgenic expression of Mut in the muscle. Mut-/-;TgINS-MCK-Mut mice accurately replicate the hepatorenal mitochondriopathy and growth failure seen in severely affected patients and were used to characterize the response to fasting.