Publications by authors named "M O Richard"

Background: Methotrexate is an important component of curative therapy in childhood acute lymphoblastic leukemia (ALL), but the role of genetic variation influencing methotrexate clearance and transport in toxicity susceptibility in children with ALL is not well established. Therefore, we evaluated the association between suspected methotrexate pharmacogenomic variants and methotrexate-related neurotoxicity.

Methods: This study included children (aged 2-20 years) diagnosed with ALL (2005-2019) at six treatment centers in the southwest United States.

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Biallelic variants in GLDN have recently been associated with lethal congenital contracture syndrome 11 (LCCS11), a form of fetal akinesia deformation sequence (FADS) with high neonatal mortality. In this report, we describe five individuals from two Canadian Inuit families originating from different communities in Nunavik all affected with FADS and harboring a rare homozygous missense variant, [NM_181789.4:c.

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Background: Most olecranon fractures are intra-articular, affecting the extensor mechanism of the elbow, and are treated surgically with dorsal plate fixation or tension band. Due to shortcomings of dorsal plates related to prominence, insufficient fixation of sagittal fracture lines, and difficulty matching proximal ulna dorsal angulation (PUDA), dual medial and lateral plating (DP) has been developed. We hypothesized that olecranon fractures treated with DP would have low complication rates and low incidence of hardware removal compared with those treated with traditional methods of fixation.

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Extracellular vesicles (EVs) are cell-derived small membrane structures that transport various molecules. They have emerged as potential circulating biomarkers for monitoring responses to cancer therapies. This study aimed to comprehensively characterize plasma-carried EVs in hormone receptor-positive (HR) metastatic breast cancer (MBC) patients treated with first-line CDK4/6 inhibitors (iCDK4/6) combined with endocrine therapy.

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