Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease.

: Disruption of results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. : Exome sequencing identified variants affecting .

MuscleMap: An Open-Source, Community-Supported Consortium for Whole-Body Quantitative MRI of Muscle.

Disorders affecting the neurological and musculoskeletal systems represent international health priorities. A significant impediment to progress in trials of new therapies is the absence of responsive, objective, and valid outcome measures sensitive to early disease changes. A key finding in individuals with neuromuscular and musculoskeletal disorders is the compositional changes to muscles, evinced by the expression of fatty infiltrates.

Monitoring Seroprevalence of Infectious Diseases in the Florida Panther (Puma concolor coryi).

Infectious diseases can have detrimental effects on wildlife populations, particularly those that persist at small sizes, have low genetic diversity, and are affected by fragmented habitat. One such example is the endangered Florida panther (Puma concolor coryi), which has been intensively managed since the early 1980s, with the current population ranging between 120 and 230 individuals. For more than three decades, panthers have been captured, demographics recorded, and blood samples collected to monitor for multiple infectious diseases; however, an updated comprehensive study of many of these pathogens has not occurred since 1991.

How is recovery defined and measured in patients with low back pain? A mixed study systematic review.

Background: Despite the burden of low back pain (LBP) there is no currently accepted definition for its recovery, nor is there a gold standard for measurement. In addition, it is currently unclear how the perspective of patients are used in making recovery determinations. The purpose of this mixed study systematic review across both quantitative and qualitative literature was to (1) explore how recovery has been defined and measured for patients experiencing LBP, and (2) examine how the perspectives of patients and providers for recovery of LBP align or differ.

External validation of the DIAFORA system to predict lower-extremity amputations in a prospective Danish cohort.

Aim: A diabetes-related foot ulcer (DFU) is a major risk factor for lower-extremity amputation (LEA). To help clinicians predict the risk of LEA in people with DFU, the Diabetic Foot Risk Assessment (DIAFORA) system was developed but has never been externally validated.

Methods: In this study, 317 people presenting with a new DFU were included.