Publications by authors named "K P Mathews"

Open surgical treatment of idiopathic chylothorax via thoracic duct ligation and pericardiectomy requires a lengthy procedure with two thoracotomy incisions. The objectives of this report were to describe an approach for thoracic duct ligation and pericardiectomy via a single thoracotomy at the left fourth intercostal space and to describe the clinical outcome in two dogs with idiopathic chylothorax. Dogs were prospectively enrolled in a pilot study to evaluate the clinical efficacy of thoracic duct ligation at the left fourth intercostal space, combined with subphrenic pericardiectomy performed through the same incision.

View Article and Find Full Text PDF

Objective: Limb-girdle muscular dystrophy R9 (LGMDR9, formerly known as LGMD2I), caused by variants in the fukutin-related protein (FKRP) gene leads to progressive muscle weakness of the shoulder and pelvic limb-girdles and loss of motor function over time. Clinical management and future trial design are improved by determining which standardized clinical outcome assessments (COA) of function are most appropriate to capture disease presentation and progression, informing endpoint selection and enrollment criteria. The purpose of our study was to evaluate the cross-sectional validity and reliability of clinical outcome assessments in patients with FKRP-related LGMDR9 participating in the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP) natural history study.

View Article and Find Full Text PDF

Background: The identification of a heterozygous exonic GGC repeat expansion in ZFHX3 underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25-year diagnostic conundrum. We used adaptive long-read sequencing to decipher the pathogenic expansion in the index Utah family and an unrelated family from Iowa of Swedish ancestry. Contemporaneous to our discovery, other groups identified the same repeat expansion in affected individuals from Utah, Sweden, and Germany, highlighting the current pivotal time for detection of novel repeat expansion disorders.

View Article and Find Full Text PDF
Article Synopsis
  • A study using data from the MD STARnet examined respiratory testing and insufficiency in people with facioscapulohumeral muscular dystrophy (FSHD) diagnosed between 2008-2016.
  • Out of 170 individuals with FSHD, only 20% received pulmonary function tests, and 14.1% had polysomnograms; however, over half of those tested showed significant respiratory issues.
  • The findings suggest a need for better monitoring and adherence to guidelines recommending that all FSHD patients receive baseline respiratory evaluations to identify complications early.
View Article and Find Full Text PDF

An approach to improving radiation use efficiency (RUE) in wheat is to screen for variability in rates of leaf respiration in darkness (Rdark). We used a high-throughput system to quantify variation in Rdark among a diverse range of spring wheat genotypes (301 lines) grown in two countries (Mexico and Australia) and two seasons (2017 and 2018), and in doing so quantify the relative importance of genotype (G) and environment (E) in influencing variations in leaf Rdark. Through careful design, residual (unexplained) variation represented less than 10% of the total observed.

View Article and Find Full Text PDF