Understanding the Interplay Between Paraspinal Muscle Atrophy and Lumbar Endplate Degeneration: A 3-Year Longitudinal Study.

Study Design: Retrospective analysis of longitudinal data.

Objective: To assess the association between the paraspinal musculature (PM) and lumbar endplate degeneration.

Background: The PM is essential for spinal stability, while the vertebral endplate is pivotal for nutrient transport and force distribution.

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.

Pathogenic variants in the gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystrophy (cerebral ALD), and primary adrenal insufficiency. These syndromes are not present in all individuals and are not related to genotype. Cerebral ALD and adrenal insufficiency require early detection and intervention and warrant clinical surveillance because of variable penetrance and age at onset.

A Prospective Analysis of Skin and Fingertip Advanced Glycation End-Product Devices in Healthy Volunteers.

Background: Advanced glycation end products (AGEs) have been shown to accumulate in bone and are gaining interest in connective tissue research. Aims: To investigate the intrarater reliability, two-timepoint agreement and correlations within and between two commercially available skin autofluorescence (SAF) AGE devices. Methods: Healthy volunteers were enrolled in a prospective study at a single academic institution.

DMPK mRNA Expression in Human Brain Tissue Throughout the Lifespan.

Objective: Myotonic dystrophy is a multisystem disorder caused by a trinucleotide repeat expansion on the myotonic dystrophy protein kinase () gene. To determine whether wildtype DMPK expression patterns vary as a function of age, we analyzed DMPK expression in the brain from 99 donors ranging from 5 postconceptional weeks to 80 years old.

Methods: We used the BrainSpan messenger RNA sequencing and the Yale Microarray data sets, which included brain tissue samples from 42 and 57 donors, respectively.

Unintentional Pediatric Marijuana Exposures Prior to and After Legalization and Commercial Availability of Recreational Marijuana in Washington State.

Background: Washington State was one of the first states to legalize recreational marijuana. Increased availability of marijuana may result in more unintentional pediatric exposure, which often presents as altered mental status with unknown cause.

Objectives: To quantify unintentional pediatric marijuana exposures reported to the Washington Poison Center (WAPC) prior to and after legalization and commercial availability of recreational marijuana.

Substance abuse may hasten motor onset of Huntington disease: Evaluating the Enroll-HD database.

Objective: To investigate the relationship between substances of abuse and age at motor onset (AMO) in patients with Huntington disease (HD) in a large and diverse patient population.

Methods: This was a retrospective, observational study of the Enroll-HD database. Participants were determined to belong to 1 of 3 substance abuse groups: (1) tobacco abusers, (2) alcohol abusers, and (3) drug abusers.

Consequences of exchanging carbohydrates for proteins in the cholesterol metabolism of mice fed a high-fat diet.

Consumption of low-carbohydrate, high-protein, high-fat diets lead to rapid weight loss but the cardioprotective effects of these diets have been questioned. We examined the impact of high-protein and high-fat diets on cholesterol metabolism by comparing the plasma cholesterol and the expression of cholesterol biosynthesis genes in the liver of mice fed a high-fat (HF) diet that has a high (H) or a low (L) protein-to-carbohydrate (P/C) ratio. H-P/C-HF feeding, compared with L-P/C-HF feeding, decreased plasma total cholesterol and increased HDL cholesterol concentrations at 4-wk.

Cloning and characterization of a second AP-2 transcription factor: AP-2 beta.

AP-2 has been characterized previously as a unique 52 x 10(3) M(r) transcription activator encoded by a single gene that is expressed in a restricted pattern during embryonic morphogenesis of the peripheral nervous system, face, skin and nephric tissues. Here we report the isolation of genomic and cDNA clones encoding for a second AP-2 related transcription factor, designated AP-2 beta. AP-2 beta binds specifically to a series of well-characterized AP-2 binding sites, consensus to the sequence G/CCCN3GGC, and transactivates transcription from a reporter plasmid under the control of an AP-2-dependent promoter.

Developmental regulation of creatine kinase gene expression by myogenic factors in embryonic mouse and chick skeletal muscle.

The B isoform of creatine kinase (BCK), which is expressed at a high level in embryonic neural tissues, is also expressed abundantly in developing striated muscle and is an early marker for skeletal myogenesis. Using isoform-specific 35S-labeled antisense cRNA probes for in situ hybridization, we have detected BCK mRNAs in embryonic mouse and chick myotomes, the first skeletal muscle masses to form in developing embryos. These transcripts are detectable as soon as myotomes are morphologically distinguishable.