An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders.

Inherited neuromuscular disorders (NMDs) are a large group of genetic conditions characterized by impaired peripheral nerve, motor neuron, neuromuscular junction, or skeletal muscle function. These conditions are also known to have clinical and genetic heterogeneity and variable ages of onset. Clinical evaluation for NMDs has increasingly incorporated molecular genetics. However, genetic testing is complicated by the variety of testing options and the ambiguity of NMD phenotypes. Examining test selection and yield may elucidate testing recommendations and improve the diagnostic journey for these patients. This retrospective chart review evaluated the clinical presentations, genetic testing approaches, and diagnostic outcomes of 155 patients with suspected NMDs at Cincinnati Children's Hospital Medical Center. A total of 262 individual tests were ordered, averaging 1.7 tests per patient. The clinic utilized 26 separate genetic tests, with test yields ranging from 0% to 66%. Overall, 21% of patients received a genetic diagnosis. Of all the clinical findings evaluated, elevated CPK levels with or without muscle weakness were the most informative symptoms correlated with a diagnostic result. This study highlights several genetic testing considerations for NMDs, including the variability of diagnostic outcomes. This knowledge is relevant to clinicians and patients, especially during the pretest counseling and consenting process.

Improving Turnaround Times through a Process Improvement Initiative Involving Barcoding, Floorplans, Dual Measuring Cells, Chemistry Analyzers, and Staff Shifts.

BACKGROUND: Specimen turnaround time (TAT) is an important metric for laboratory safety and quality. Various methods to improve TAT have seen success using process improvement initiatives. However, there are limited data on barcoding, pneumatic receiving proximity to modular preanalytics, 1 vs 2 measuring cells, and upgrading to Cobas 8000. The example describes the complete execution of a process improvement initiative to improve TAT within these areas over a 20-month period. The study aimed to improve specimen timeliness by decreasing the TAT for preanalytic and analytic specimen processing through a systematic process improvement initiative and to empower staff to "own" their scientific method. METHODS: The primary outcome TAT was reported from a prospective quality initiative beginning January 2017 for 2 analytes: troponin and potassium. TATs for albumins from the complete metabolic panels were added to the study design retrospectively during team rounds. Mean TAT was defined as time from arrival to verified times. Process improvement tools within the study design were borrowed from Lean management. RESULTS: After implementation of the process improvement initiative, the number of steps medical laboratory assistants and technologists performed per specimen decreased from 8 to 5. Mean TATs decreased for all analytes. Preimplementation to postimplementation comparisons from 2017 to 2018 decreased for all 3 analytes and within 2017. The number of troponin specimens verified within 60 min improved from 70% in January 2017 to 95% in August 2018, with an improvement from 64% in January 2017 to 87% in August 2018 during peak hours. CONCLUSIONS: A systematic process improvement initiative whereby employees "own" the scientific process within specimen preanalytic and analytic testing phases can significantly improve metrics for laboratory quality and safety.

EWSR1 and ATF1 rearrangements in clear cell odontogenic carcinoma: presentation of a case.

Clear cell odontogenic carcinoma (CCOC) is a rare odontogenic tumor of the jaws that is more common in the mandible than maxilla and has a female preponderance with a peak incidence in the sixth decade. It is characterized by locally aggressive behavior and has the potential to metastasize. This tumor was recently reported to have a rearrangement of the Ewing sarcoma breakpoint region 1 gene (EWS RNA-binding protein 1, EWSR1) in 5 of 8 cases tested and of the activating transcription factor 1 gene (ATF1) in 1 case tested. We report a case of CCOC in the premolar area of the mandible in a 59-year-old woman. This case demonstrated the presence of both EWSR1 and ATF1 gene rearrangements by fluorescence in situ hybridization.