Most eukaryotes harbor two distinct pre-mRNA splicing machineries: the major spliceosome, which removes >99% of introns, and the minor spliceosome, which removes rare, evolutionarily conserved introns 1 – 4 . Although hypothesized to serve important regulatory functions 5 , physiologic roles for the minor spliceosome are not well understood. For example, the minor spliceosome component ZRSR2 is subject to recurrent, leukemia-associated mutations 6 – 9 , yet functional connections between minor introns, hematopoiesis, and cancers are unclear. Here, we identify that impaired minor intron excision via ZRSR2 loss enhances hematopoietic stem cell self-renewal. CRISPR screens mimicking nonsense-mediated decay of minor intron-containing mRNAs converged on LZTR1, a regulator of Ras-related GTPases 10 – 12 . LZTR1 minor intron retention was also discovered in the RASopathy Noonan syndrome, due to intronic mutations disrupting splicing, and diverse solid tumors. These data uncover minor intron recognition as a regulator of hematopoiesis, noncoding mutations within minor introns as potential cancer drivers, and links between ZRSR2 mutations, LZTR1 regulation, and leukemias.

No abstract

Aim To test the hypothesis that hip fracture patients who receive occupational therapy (OT) have better functional ability than those who do not. Methods This retrospective observational study utilized data from the Japan Rehabilitation Database spanning 2005–2015. In‐hospital hip fracture patients admitted to acute hospitals were identified. In total, 1266 patients were eligible based on the exclusion criteria. The primary outcome was motor Functional Independence Measure (FIM) efficiency. Results Patients who received OT were 50.9% of hip fracture patients. Patients who received OT had significantly higher scores in motor FIM efficiency (mean 0.79 vs 0.70; P = 0.02) and FIM effectiveness (mean 0.49 vs 0.41; P < 0.01) than the patients who did not receive OT. From multivariate linear regression analysis, OT was identified as a significant factor in motor FIM efficiency (coefficient 1.29, 95% confidence interval 1.14–1.47; P < 0.01) and FIM effectiveness (coefficient 1.07, 95% confidence interval 1.02–1.12; P < 0.01). Conclusions The present cohort analysis showed that OT for hip fracture patients in the acute phase likely contributes to improved functional ability. Geriatr Gerontol Int 2019; 19: 611–615.

The aim of this review was to determine the utility of home visits by occupational therapists before and after a patient is discharged from an acute care hospital. All relevant published studies were identified by searching the CENTRAL, MEDLINE, EMBASE, Occupational Therapy Systematic Evaluation of Evidence, and WHO International Clinical Trials Registry Platform databases. Randomized controlled trials were included regardless of sex, age, disease, and duration of acute hospitalization. The intervention was predischarge and postdischarge home visits made by an occupational therapist. The primary outcome was the ability to perform activities of daily living at 1 month after the intervention. We identified eight trials (including 1029 patients) that were eligible for inclusion. More than half of the trials had a low risk of bias in random sequence generation, and allocation concealment and the other half had a high risk of bias with regard to blinding of participants. However, the risk of bias in terms of blinding for outcomes assessment was low in more than half the studies. We found that home visits by an occupational therapist in a single study significantly reduced the prevalence of falls but had no significant effects on ability to perform activities of daily living, quality of life, or mood. We could not find adequate evidence to support routine home visits by an occupational therapist in the acute care. In the future, studies with larger sample sizes are needed to validate home visits by occupational therapists in patients after acute care hospitalization.

Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are major sources of hereditary colorectal cancer (CRC) and are associated with other malignancies. There is some heterogeneity in management strategies in Japan. We undertook a survey of management of hereditary CRC in hospitals that are members of the Japan Society of Colorectal Cancer Research. One hundred and ninety departments responded, of which 127 were from designated cancer care hospitals (DCCHs) according to the Japanese government. There were 25 488 operations for CRC in these departments in 2015. The DCCHs performed better with regard to usage of Japan Society of Colorectal Cancer Research guidelines, referring new CRC patients for LS screening, and having in‐house genetic counselors and knowledge of treatment for LS. There were 174 patients diagnosed with LS and 602 undergoing follow‐up in 2011–2015, which is fewer than the number expected from CRC operations in 2015. These numbers were not affected by whether the institution was a DCCH. Universal screening for LS was carried out in 8% of the departments. In contrast, 541 patients were diagnosed with FAP and 273 received preventive proctocolectomy/colectomy in 2011–2015. The DCCH departments undertook more surgery than non‐DCCH departments, although most of the management, including surgical procedures and use of non‐steroidal anti‐inflammatory drugs, was similar. Management of desmoid tumor in the abdominal cavity differed according to the number of patients treated. In conclusion, there was heterogeneity in management of LS but not FAP. Most patients with LS may be overlooked and universal screening for LS is not common in Japan.