Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized. Using a three-stage genome-wide association study of 3,437 MPN cases and 10,083 controls, we identify two SNPs with genome-wide significance in JAK2V617F-negative MPN: rs12339666 (JAK2; meta-analysis P=1.27 × 10−10) and rs2201862 (MECOM; meta-analysis P=1.96 × 10−9). Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2V617F-positive cases. rs9376092 has a stronger effect in JAK2V617F-negative cases with CALR and/or MPL mutations (Breslow–Day P=4.5 × 10−7), whereas in JAK2V617F-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ2 P=7.3 × 10−7). Reduced MYB expression, previously linked to development of an ET-like disease in model systems, associates with rs9376092 in normal myeloid cells. These findings demonstrate that multiple germline variants predispose to MPN and link constitutional differences in MYB expression to disease phenotype.

A near-infrared Raman system was developed to collect real-time in vivo human lung spectra. The excitation light and the emission were guided to and from the tissue surface by a reusable fiber catheter passed down the instrument channel of a bronchoscope. Two-stage filtering was used to reduce laser noise, fluorescence, and Raman emissions from the fibers. A second fiber bundle guided the emission to a spectrometer where the fibers, in a round packing geometry, were spread out to form a parabolic arc that improved the signal-to-noise ratio 20-fold, facilitating real-time spectral measurements. Preliminary clinical tests show that clear and reliable Raman spectra can be obtained.

Raman spectroscopy has becoming a practical tool for rapid in vivo tissue diagnosis. This paper provides an overview on the latest development of real-time in vivo Raman systems for cancer detection. Instrumentation, data handling, as well as oncology applications of Raman techniques were covered. Optic fiber probes designs for Raman spectroscopy were discussed. Spectral data pre-processing, feature extraction, and classification between normal/benign and malignant tissues were surveyed. Applications of Raman techniques for clinical diagnosis for different types of cancers, including skin cancer, lung cancer, stomach cancer, oesophageal cancer, colorectal cancer, cervical cancer, and breast cancer, were summarized. Schematic of a real-time Raman spectrometer for skin cancer detection. Without correction, the image captured on CCD camera for a straight entrance slit has a curvature. By arranging the optic fiber array in reverse orientation, the curvature could be effectively corrected.

Raman spectroscopy is a minimally-invasive optical technique with great potential for in vivo cancer detection and disease diagnosis. However, there is no systematic study of the Raman spectra from different organs to date. We measured and characterized the Raman spectra eighteen naïve mouse organs in a broad frequency range of 700 to 3100 cm⁻¹. The peaks of generic proteins and lipids appeared in Raman spectra of all organs. Some organs like bone, teeth, brain and lung had unique Raman peaks. The autofluorescence was strong in liver, spleen, heart, and kidney. These results suggest that organ specific Raman probe design and specific data processing strategies are required in order to get the most useful information.

The year 2020 has seen the emergence of a global pandemic as a result of the disease COVID-19. This report reviews knowledge of the transmission of COVID-19 indoors, examines the evidence for mitigating measures, and considers the implications for wintertime with a focus on ventilation.