Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.

Almost one third of the three million people in China suffering severe deafness are children, and 50% of these cases are believed to have genetic components to their etiology. Newborn hearing genetic screening can complement Universal Neonatal Hearing Screening for the diagnosis of congenital hearing loss as well as identifying children at risk for late-onset and progressive hearing impairment. The aim of this joint academic and Ministry of Health project was to prototype a cost effective newborn genetic screen in a community health setting on a city-wide level, and to ascertain the prevalence of variation at loci that have been associated with non-syndromic hearing loss. With the participation of 143 local hospitals in the city of Wuhan, China we screened 142,417 neonates born between May 2014 and Dec. 2015. The variants GJB2 c.235delC, SLC26A4 c.919-2A>G, and mitochondrial variants m.1555A>G and m.1494C>T were assayed using real time PCR. Newborns found to carry a variant were re-assayed by sequencing in duplicate. Within a subset of 707 newborns we assayed using real-time PCR and ARMS-PCR to compare cost, sensitivity and operating procedure. The most frequent hearing loss associated allele detected in this population was the 235delC variant in GJB2 gene. In total, 4289 (3.01%) newborns were found to carry at least one allele of either GJB2 c.235delC, SLC26A4 c.919-2A>G or two assayed MT-RNR1 variants. There was complete accordance between the real-time PCR and the ARMS PCR, though the real-time PCR had a much lower failure rate. Real-time PCR had a lower cost and operating time than ARMS PCR. Ongoing collaboration with the participating hospitals will determine the specificity and sensitivity of the association of the variants with hearing loss at birth and arising in early childhood, allowing an estimation of the benefits of newborn hearing genetic screening in a large-scale community setting.

Raman spectroscopic analysis of a desert cyanobacterium Nostoc sp. in response to UVB radiation.

Cyanobacteria are capable of tolerating environmental extremes. To survive in extreme environments, cyanobacteria have developed the capability to adapt to a variety of stresses. For example, cyanobacteria have adopted a number of strategies with which to survive UV stress, including expression of UV-screening pigments and antioxidant systems. We have previously shown that several antioxidants are significantly expressed in Nostoc sp. by UVB irradiation. We report here that the content of UV-responsive biomarkers such as ß-carotene and scytonemin can be easily detected by Fourier transform Raman spectroscopy with use of a small sample size and that the content of ß-carotene is dependant on the UVB intensity and exposure time. Our results indicate that Raman spectroscopy may be a helpful tool to analyze UV-protective molecules of cyanobacterium in astrobiological studies without access to large sample sizes and complicated extractions, which are needed by other analytical techniques such as high-performance liquid chromatography and mass spectrometry.

Simulated microgravity alters growth and microcystin production in Microcystis aeruginosa (cyanophyta).

Recent researches indicated that microgravity can increase pathogenic bacteria virulence. We presumed that microgravity might affect the toxin production of toxic cyanobacteria too. Microcystis aeruginosa PCC7806 was chosen as the model organism to investigate the effects of simulated microgravity (SMG) on the growth and toxin production of toxic cyanobacteria. SMG could inhibit the growth of M. aeruginosa, which resulted in decreased cell number and lower specific growth rate after 20-day treatment. M. aeruginosa sensed the reduced gravity very quickly and immediately up-regulated its microcystin (MC) synthesis and exudation in 2 days. Subsequently, the intracellular MC content fell back since the 8(th) day and was stable around the initial level in the following days, suggesting a quick adaptation to the reduced gravity. SMG had negative effects on the photochemical system and the absorption of phosphorus in most time. However, the photosynthetic pigment concentrations and nitrogen absorption used to be transitorily stimulated upwards by SMG. It was assumed that SMG inhibited cell growth by interfering its photosynthesis and phosphorus uptake, while the enhanced MC production was related with pigment and nitrogen metabolisms. This study reveals that SMG is a novel environmental signal which inhibits growth and enhances MC production of M. aeruginosa.