Runs of Homozygosity Associated with Speech Delay in Autism in a Taiwanese Han Population: Evidence for the Recessive Model

Runs of homozygosity (ROH) may play a role in complex diseases. In the current study, we aimed to test if ROHs are linked to the risk of autism and related language impairment. We analyzed 546,080 SNPs in 315 Han Chinese affected with autism and 1,115 controls. ROH was defined as an extended homozygous haplotype spanning at least 500 kb. Relative extended haplotype homozygosity (REHH) for the trait-associated ROH region was calculated to search for the signature of selection sweeps. Totally, we identified 676 ROH regions. An ROH region on 11q22.3 was significantly associated with speech delay (corrected p = 1.73×10⁻⁸). This region contains the NPAT and ATM genes associated with ataxia telangiectasia characterized by language impairment; the CUL5 (culin 5) gene in the same region may modulate the neuronal migration process related to language functions. These three genes are highly expressed in the cerebellum. No evidence for recent positive selection was detected on the core haplotypes in this region. The same ROH region was also nominally significantly associated with speech delay in another independent sample (p = 0.037; combinatorial analysis Stouffer’s z trend = 0.0005). Taken together, our findings suggest that extended recessive loci on 11q22.3 may play a role in language impairment in autism. More research is warranted to investigate if these genes influence speech pathology by perturbing cerebellar functions.     

生物有机肥和复合微生物菌剂对黄瓜产量和品质的影响

采用正交试验研究了生物有机肥和复合微生物菌剂对黄瓜产量、品质、农药残留以及毒害元素吸收的影响。结果表明,生物有机肥能使黄瓜数量平均每株增产12.5%,维生素C含量提高99.21%,氨基酸含量提高41.10%,有效降解黄瓜中多菌灵的残留,抑制黄瓜对Pb和As的吸收;微生物菌剂能使黄瓜数量比对照增加29.29%,产量增加22.76%,维生素C含量提高7.68%,氨基酸含量增加73.56%,对百菌清有很好的降解作用。     

In vitro colony formation by cryopreserved primary human tumor cells

The effect of cryopreservation on the ability of primary human cancer cells to form colonies in a two-layer agar system was examined. Although considerable variation occurred, concentrations of 5 or 10% dimethylsulfoxide employed with slow freezing rates allowed survival of colonies in the range 20-40% or greater of nonfrozen controls. The methods used in this study do not require elaborate freezing equipment, and can be used for the cryopreservation of a wide variety of types of cancers.     

Miniature probe for dual‐modality photoacoustic microscopy and white‐light microscopy for image guidance: A prototype toward an endoscope

In this study, a novel photoacoustic microscopy (PAM) probe integrating white‐light microscopy (WLM) modality that provides guidance for PAM imaging and complementary information is implemented. One single core of an imaging fiber bundle is employed to deliver a pulsed laser for photoacoustic excitation for PAM mode, which provides high resolution with deep penetration. Meanwhile, for WLM mode, the imaging fiber bundle is used to transmit two‐dimensional superficial images. Lateral resolution of 7.2 μm for PAM is achieved. Since miniature components are used, the probe diameter is only 1.7 mm. Imaging of phantom and animals in vivo is conducted to show the imaging capability of the probe. The probe has several advantages by introducing the WLM mode, such as being able to conveniently identify regions of interest and align the focus for PAM mode. The prototype of an endoscope shows potential to facilitate clinical photoacoustic endoscopic applications.