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733 results on '"Liu, Yukun"'

17. Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients

Author

Liu, Yukun, Ge, Yucheng, Zhan, Ruichao, Zhao, Zhenqiang, Li, Jun, and Wang, Wenying

Subjects
Gene mutations -- Identification and classification, Kidney stones -- Genetic aspects -- Diagnosis -- Demographic aspects, Health
Abstract

Background The aim of this study was to describe the genotypic and phenotypic characteristics of Chinese pediatric patients with hereditary nephrolithiasis. Methods Whole-exome sequencing (WES) was performed on 218 Chinese pediatric patients with kidney stones, and genetic and clinical data were collected and analyzed retrospectively. Results The median age at onset in our cohort was 2.5 years (age range, 0.3-13 years). We detected 79 causative mutations in 15 genes, leading to a molecular diagnosis in 38.99% (85/218) of all cases. Monogenic mutations were present in 80 cases, and digenic mutations were present in 5 cases; 34.18% (27/79) of mutations were not included in the databases. Six common mutant genes, i.e., HOGA1, AGXT, GRHPR, SLC3A1, SLC7A9, and SLC4A1, were found in 84.71% of the patients overall. Furthermore, three mutations (A278A, c.834_834 + 1GG > TT, and C257G) in HOGA1, two mutations (K12QfX156 and S275RfX28) in AGXT, and one mutation (C289DfX22) in GRHPR represented hotspot mutations. The patients with HOGA1 mutations had the earliest onset age (0.8 years), followed by those with SLC7A9 (1.8 years), SLC4A1 (2.7 years), AGXT (4.3 years), SLC3A1 (4.8 years), and GRHPR (8 years) mutations (p = 0.002). Nephrocalcinosis was most commonly observed in patients with AGXT gene mutations. Conclusions Fifteen causative genes were detected in 85 Chinese pediatric patients with kidney stone diseases. The most common mutant genes, novel mutations, hotspot mutations, and genotype-phenotype correlations were also found. This study contributes to the understanding of genetic profiles and clinical courses in pediatric patients with hereditary nephrolithiasis. Graphical abstract, Author(s): Yukun Liu [sup.1] , Yucheng Ge [sup.1] , Ruichao Zhan [sup.1] , Zhenqiang Zhao [sup.1] , Jun Li [sup.1] , Wenying Wang [sup.1] Author Affiliations: (1) grid.411610.3, 0000 0004 [...]

Published
2023
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34. Numerical simulation of the internal structure of sand dunes

Author

Liu, Yukun, Wiggs, Giles, and Bailey, Richard

Subjects
Geology, Sedimentology, Physical geography, Lattice gas, Fluid dynamic measurements, Environmental modelling, Geophysics, Cellular automata, Earth sciences, Geomorphology, Sand dune, Chronology
Abstract

The internal sedimentary structure of aeolian sand dunes has long been considered as an indicator of the paleo environment evolution. Traditional methods (e.g. digging, radar) for studying the internal structure have been restricted by the time and space coverage and data continuity. This thesis deploys a cellular automaton (CA) approach to investigate wind regime controls on the dune dynamic and the corresponding internal stratigraphy. The sand dune CA selected is coupled with a lattice gas (LG) --- a discrete Computing Fluid Dynamic (CFD) model to 'generate' the wind flow instantaneously adapted to the dune topography. In the dune CA, each sand grain cell is enabled with a activation time property to construct the full set of chronology records. The two 'simplest' wind regimes (i.e. unimodal and bimodal) are investigated. For unimodal winds, scenarios are run on transverse dunes to identify controls of wind speeds and directions. High wind speeds or more crest-normal angles tend to trigger high grain flow magnitude and bury thicker strata whilst the preservation time within the dune body is short. For bimodal regimes, firstly the fundamental dune evolution pattern and the stratigraphy are identified. With extension of a slip face from the dune crest to the lee slope plinth, the previous stoss slope gets buried, separating two sequences of grain flow strata and forming chronology gaps in age-depth profiles. Secondly the linear dune lateral migration potentials and elongation dynamics are investigated under bimodal winds. For established linear dunes, the lateral migration speeds, directions and the deposition pattern are highly sensitive to tiny (smaller than one degree) changes of wind directions. The sideways moving stratigraphy is either formed by avalanche in the lee or by accumulation of sand on the windward surface. For elongating linear dunes, the stratigraphy is featured by bidirectional strata buried as a core beneath active sand layers. Growth of the core and the whole dune both are influenced by geometries of the bimodal wind regimes, including wind cycle durations, wind directionality and asymmetry of the wind regime.

Published
2022

35. Case report: Herbal treatment of neutropenic enterocolitis after chemotherapy for breast cancer

Author

Xu Peng, Cui Chaoxiong, Liu Yukun, Fang Kun, Wang Qitang, Liu Chao, and Tan Ruixia

Subjects
breast cancer, chemotherapy, neutropenic enterocolitis, chinese herbal medicine, Biology (General), QH301-705.5
Abstract

In this case report, a 53-year-old woman was diagnosed with severe NE after receiving chemotherapy for breast cancer. The patient with breast cancer was treated with a single cycle of docetaxel (140 mg) + epirubicin (130 mg) + cyclophosphamide (0.9 g) chemotherapy. However, the woman presented with symptoms of fatigue and diarrhea 5 days later accompanied with severe neutropenia according to the routine blood test. The computed tomography examination displayed the thickening and swelling of the colorectal wall. After the diagnosis of NE, the woman received antibiotics and supportive treatment, but her symptoms were not improved. The Chinese herbal medicine (CHM) diagnostic pattern was then designed for the patient. The patient was administered with two CHM decoctions. One decoction contained 24 kinds of herbal materials, and the other one was called pure ginseng decoction. These two decoctions were administered to the patient 2 or 3 times per day to tonify the spleen, nourish Qi and blood, and remove phlegm and damp heat symptoms. After the CHM treatment lasting for 10 days, the symptoms of the patient were improved, and she was discharged. In conclusion, CHM treatment played an indispensable role in curing the woman with chemotherapy-induced NE.

Published
2023
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