Patients with KCNK9 imprinting syndrome demonstrate congenital hypotonia, variable cleft palate, normal MRIs and EEGs, delayed development, and feeding problems. Associated facial dysmorphic features include dolichocephaly with bitemporal narrowing, short philtrum, tented upper lip, palatal abnormalities, and small mandible. This disorder maps to chromosomal region 8q24, and it is caused by a specific missense mutation 770G>A in exon 2, replacing glycine at position 236 by arginine (G236R) in the maternal copy of KCNK9 within this locus. KCNK9 (also called TASK3) encodes a member of the two pore‐ domain potassium channel (K2P) subfamily. This gene is normally imprinted with paternal silencing, thus a mutation in the maternal copy of the gene will result in disease, whereas a mutation in the paternal copy will have no effect. Exome sequencing in four new patients with developmental delay and central hypotonia revealed de novo G236R mutations. Older members of a previously reported Arab–Israeli family have intellectual disability of variable severity, persistent feeding difficulties in infancy with dysphagia of liquids and dysphonia with a muffled voice in early adulthood, generalized hypotonia, weakness of proximal muscles, elongated face with narrow bitemporal diameter, and reduced facial movements. We describe the clinical features in four recently recognized younger patients and compare them with those found in members of the originally reported Arab–Israeli family and suggest this may be a treatable disorder. © 2016 Wiley Periodicals, Inc.

Liquid chromatography‐tandem mass spectrometry (LC‐MS/MS) has become the gold‐standard technique to study RNA and its various modifications. While most research on RNA nucleosides has been focused on their biological roles, discovery of new modifications remains of interest. With state‐of‐the‐art technology, the presence of artifacts can confound the identification of new modifications. Here, we report the characterization of a non‐natural mcm5isoC ribonucleoside in S. cerevisiae total tRNA hydrolysate by higher‐energy collisional dissociation (HCD)‐based fingerprints and isotope labeling of RNA. Its discovery revealed a class of amino/imino ribonucleoside artifacts that are generated during RNA hydrolysis under ammonium‐buffered mild basic conditions. We then identified digestion conditions that can reduce or eliminate their formation. These finding and method enhancements will improve the accurate detection of new RNA modifications.

H63D homozygosity was associated with an elevated mean ferritin level, but only 6.7% had documented iron overload at follow-up. The penetrance of the H63D mutation appeared to be low.

Background and Aim. Despite advances in the treatment of chronic hepatitis C infection (CHC), it remains a major public health problem in Canada and globally. The knowledge of healthcare providers (HCPs) is critical to improve the care of CHC in Canada. To assess the current knowledge and educational needs of healthcare providers (HCPs) in the area of CHC management a national online survey was conducted. Method. An interprofessional steering committee designed a 29-question survey distributed through various direct and electronic routes. The survey assessed several domains (e.g., participant and practice demographics, access to resources, knowledge of new treatments, and educational preferences). Results. A total of 163 HCPs responded to the survey. All hepatologists and 8% of primary care providers (PCPs) reported involvement in treatment of CHC. Physicians most frequently screened patients who had abnormal liver enzymes, while nurses tended to screen based on lifestyle factors. More than 70% of PCPs were not aware of new medications and their mechanisms. Conclusion. Overall, the needs assessment demonstrated that there was a need for further education, particularly for primary care physicians, to maximize the role that they can play in screening, testing, and treatment of hepatitis C in Canada.

Incremental 30-day wait times are associated with a 9% increased risk of residual tumor and a 23% increased risk of death. We have identified system gaps where quality improvement measures can be implemented to reduce wait times and allocate resources for future RFA treatment, which may improve both quality and efficiency of HCC care.