MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.

Objective: To determine whether microRNAs (miRs) are elevated in the plasma of individuals with the inherited peripheral neuropathy Charcot-Marie-Tooth disease type 1A (CMT1A), miR profiling was employed to compare control and CMT1A plasma.

Methods: We performed a screen of CMT1A and control plasma samples to identify miRs that are elevated in CMT1A using next-generation sequencing, followed by validation of selected miRs by quantitative PCR, and correlation with protein biomarkers and clinical data: Rasch-modified CMT Examination and Neuropathy Scores, ulnar compound muscle action potentials, and motor nerve conduction velocities.

Results: After an initial pilot screen, a broader screen confirmed elevated levels of several muscle-associated miRNAs (miR1, -133a, -133b, and -206, known as myomiRs) along with a set of miRs that are highly expressed in Schwann cells of peripheral nerve.

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.

Objective: Development of biomarkers for Charcot-Marie-Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A recent report (Neurology 2018;90:e518-3524) showed elevation of neurofilament light (NfL) in plasma of CMT1A disease patients, which correlated with disease severity.

Clinically differentiating palliative care and hospice.

Knowing the differences and potential benefits of hospice and palliative care can help healthcare professionals advocate for their patients and make proactive decisions about patient care. Providing admission into the appropriate program can facilitate symptom management and impart the best quality of life possible for this vulnerable population. Case studies will be used to differentiate hospice from palliative care, and the history, philosophy, availability, requirements, and barriers to receiving care will be discussed.

Efficient cloning of full-length cDNAs based on cDNA size fractionation.

The ability to generate and obtain full-length (FL) cDNAs is of critical importance to the field of genomics. Most cDNAs in a traditional cDNA library lack the initiating 5' ATG, making it difficult to obtain a FL clone. We report here on an improved protocol for the preparation of FL enriched cDNA libraries.