1.Dynamic changes and clinical significance of pulmonary function in segmental mycoplasma pneumonia children
Yao CHENG ; Jie SUN ; Hongzhu CAI
Clinical Medicine of China 2015;31(11):1047-1049
Objective To study the dynamic changes and clinical significance of pulmonary function (PF) in segmental mycoplasma pneumonia (SMPP) children and make the dynamic analysis of X-ray features.Methods Eighty-three SMPP children treated from June 2013 to December 2014 in Jinshan Institute of the Sixth People's Hospital of Shanghai were selected and the PF changes at acute phase, recovery phase and rehabilitative period was monitored and all the patients received the imageological diagnosis.The Pulmonary function includes forced vital capacity (FVC), forced expiratory volume in the first second (FEV1), forced expiratory volume ratio(FEV1/FVC), peak expiratory flow(PEF), and maximum expiratory flow (FEF25-75).Pulmonary function and imageological diagnosis of two groups was compared.Results Compare the acute phase and recovery phase and rehabilitative period of 83 SMPP Children, at acute phase, FVC ((1.58±0.49), (1.76 ±0.62),(2.08±0.84) L),FEV1((1.27±0.46),(1.58±0.53),(1.83±0.66) L),FEV1/FVC((79.64±6.61)%,(85.25±7.38)%,(87.24±8.61)%),PEF((2.61±0.84),(3.15±0.92),(3.52±1.06) L/s), FEF25 ((2.29±0.83), (2.86± 0.95), (3.26± 0.98) L/s), FEF50 ((1.51 ± 0.52), (2.12 ± 0.64), (2.26±0.63) L/s),FEF75((0.58±0.42),(0.76±0.46),(1.02±0.42) L/s) and FEF25-75 ((0.61±0.33),(0.87±0.36), (1.01 ±0.41) L/s) of two groups were reduced, especially FEF25, FEF50, FEF75 and FEF25-75.At recovery phase and rehabilitative period ,the indicators were significantly better than those of acute phase (P< 0.05);for SMPP children at acute phase, FVC ((1.51 ± 0.44), (1.31 ± 0.36) L) and FEV 1 ((1.46±0.56), (1.21±0.48) L) in the lesions of multiple parts was significantly lower than that of lesions of single part(P<0.05).At acute phase, X-ray majorly showed the unilateral lesion with increased density and blurring edges in lung lobe or segment.After 14 d, the condition was obvious improved;a few cases still had the blurring textures and thickening conditions after 2 weeks.Conclusion For SMPP children at acute phase,the major and micro airway function is damaged in different extent.It is majorly expressed as restrictive ventilation dysfunction,especially micro airway function.At recovery phase, PF is obviously improved.The damage of major airway function in the multiple parts of lung lobe is more serious than that of lesions in the single part.
2.Common Postzygotic Mutational Signatures in Healthy Adult Tissues Related to Embryonic Hypoxia
Hong YAQIANG ; Zhang DAKE ; Zhou XIANGTIAN ; Chen AILI ; Abliz AMIR ; Bai JIAN ; Wang LIANG ; Hu QINGTAO ; Gong KENAN ; Guan XIAONAN ; Liu MENGFEI ; Zheng XINCHANG ; Lai SHUJUAN ; Qu HONGZHU ; Zhao FUXIN ; Hao SHUANG ; Wu ZHEN ; Cai HONG ; Hu SHAOYAN ; Ma YUE ; Zhang JUNTING ; Ke YANG ; Wang QIAN-FEI ; Chen WEI ; Zeng CHANGQING
Genomics, Proteomics & Bioinformatics 2022;20(1):177-191
Postzygotic mutations are acquired in normal tissues throughout an individual's lifetime and hold clues for identifying mutagenic factors.Here,we investigated postzygotic mutation spectra of healthy individuals using optimized ultra-deep exome sequencing of the time-series samples from the same volunteer as well as the samples from different individuals.In blood,sperm,and muscle cells,we resolved three common types of mutational signatures.Signatures A and B represent clock-like mutational processes,and the polymorphisms of epigenetic regulation genes influence the pro-portion of signature B in mutation profiles.Notably,signature C,characterized by C>T transitions at GpCpN sites,tends to be a feature of diverse normal tissues.Mutations of this type are likely to occur early during embryonic development,supported by their relatively high allelic frequencies,presence in multiple tissues,and decrease in occurrence with age.Almost none of the public datasets for tumors feature this signature,except for 19.6%of samples of clear cell renal cell carcinoma with increased activation of the hypoxia-inducible factor 1(HIF-1)signaling pathway.Moreover,the accumulation of signature C in the mutation profile was accelerated in a human embryonic stem cell line with drug-induced activation of HIF-1α.Thus,embryonic hypoxia may explain this novel signature across multiple normal tissues.Our study suggests that hypoxic condition in an early stage of embryonic development is a crucial factor inducing C>T transitions at GpCpN sites;and indi-viduals'genetic background may also influence their postzygotic mutation profiles.