Optimized Design of Irrigation Water-Heating System and Its Effect on Lettuce Cultivation in a Chinese Solar Greenhouse.

In cold regions, the low irrigation water temperature is an important factor of low-temperature stress for greenhouse crops. In this paper, an irrigation water-heating system (IWHS) is proposed to increase the water temperature by utilizing the excess heat in the solar greenhouse. The heat-collection capacity of the system was analyzed by screening the IWHS process parameters in a Chinese solar greenhouse, and a warm-water irrigation experiment for lettuce was conducted. The results demonstrated that the water temperature increased with the increase in wind speed, and the increase in daily average water temperature reached the maximum value of 8.6 °C at 4.5 m/s wind speed. When the heat exchanger was installed at a height of 3.0 m, the collector capacity increased by 17.8% and 6.0% compared with the heating capacity at 0 m and 1.5 m, respectively, and the operation termination water temperature was 22.0-32.2 °C and its coefficient of performance (COP) was optimal. Surface darkening of the heat exchanger did not affect the heat-collection capacity of the system. Using the IWHS effectively improved the temperature of lettuce irrigation water in the Chinese solar greenhouse. The increased frequency of warm-water irrigation significantly promoted lettuce growth and increased the average yield per plant by 15.9%. Therefore, IWHS effectively increased the irrigation water temperature in a Chinese solar greenhouse in winter. Improving the system would enhance its economic and application value.

[Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].

OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Cohen syndrome. METHODS: A proband who was admitted to Zhengzhou People's Hospital on June 2, 2021 due to intellectual disability and developmental delay, in addition with her younger sister and other family members, were selected as the study subjects. Clinical data of the proband and her younger sister were collected. Genomic DNA was extracted from peripheral venous blood and chorionic villi samples. Chromosomal abnormalities were detected with chromosomal microarray analysis (CMA). Whole exome sequencing (WES) and Sanger sequencing were carried out to detect candidate variants in the proband. With RNA extracted from the peripheral blood samples, VPS13B gene transcripts and expression were analyzed by PCR and real-time quantitative PCR. Prenatal diagnosis was carried out at 12 weeks' gestation. RESULTS: The proband was a 10-year-old female with clinical manifestations including development delay, obesity, severe myopia and peculiar facial features. Her sister was 3 years old with a similar phenotype. CMA revealed no chromosomal abnormality in the proband, while WES results revealed that the proband and her sister had both harbored compound heterozygous variants of the VPS13B gene, namely c.10076_10077delCA (p.T3359fs*29) and c.6940+1G>T, which were respectively inherited from their mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PS4+PM4+PP1; PVS1+PM2_Supporting+PM3+PP1). In vivo splicing assay confirmed that the c.6940+1G>T variant has produced a frameshift transcript with skipping of exon 38. Compared with the control group, the expression of RNA in the peripheral blood of the proband's parents has decreased to 65% ~ 70% (P < 0.01), whilst that in the proband and her sister has decreased to 40% (P < 0.001). Prenatal diagnosis at 12 weeks of gestation has found that the fetus only harbored the heterozygous c.10076_ 10077delCA variant. CONCLUSION: The c.10076_10077delCA (p.T3359fs*29) frameshift variant and c.6940+1G>T splicing variant probably underlay the Cohen syndrome in this pedigree. Genetic testing has facilitated the diagnosis of this disease.

Study on the Interaction Behaviors Identification of Construction Workers Based on ST-GCN and YOLO.

The construction industry is accident-prone, and unsafe behaviors of construction workers have been identified as a leading cause of accidents. One important countermeasure to prevent accidents is monitoring and managing those unsafe behaviors. The most popular way of detecting and identifying workers' unsafe behaviors is the computer vision-based intelligent monitoring system. However, most of the existing research or products focused only on the workers' behaviors (i.e., motions) recognition, limited studies considered the interaction between man-machine, man-material or man-environments. Those interactions are very important for judging whether the workers' behaviors are safe or not, from the standpoint of safety management. This study aims to develop a new method of identifying construction workers' unsafe behaviors, i.e., unsafe interaction between man-machine/material, based on ST-GCN (Spatial Temporal Graph Convolutional Networks) and YOLO (You Only Look Once), which could provide more direct and valuable information for safety management. In this study, two trained YOLO-based models were, respectively, used to detect safety signs in the workplace, and objects that interacted with workers. Then, an ST-GCN model was trained to detect and identify workers' behaviors. Lastly, a decision algorithm was developed considering interactions between man-machine/material, based on YOLO and ST-GCN results. Results show good performance of the developed method, compared to only using ST-GCN, the accuracy was significantly improved from 51.79% to 85.71%, 61.61% to 99.11%, and 58.04% to 100.00%, respectively, in the identification of the following three kinds of behaviors, throwing (throwing hammer, throwing bottle), operating (turning on switch, putting bottle), and crossing (crossing railing and crossing obstacle). The findings of the study have some practical implications for safety management, especially workers' behavior monitoring and management.

Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis.

BACKGROUND: In the past decade, SETBP1 has attracted a lot of interest on that the same gene with different type or level (germline or somatic) of variants could provoke different pathologic consequences such as Schinzel-Giedon syndrome, SETBP1 Haploinsufficiency Disorder (SETBP1-HD) and myeloid malignancies. Whole exome sequencing was conducted to detect the etiology of a pregnant woman with mental retardation. As a new oncogene and potential marker of myeloid malignancies, somatic SETBP1 variants in other cancers were rarely studied. We performed a pan-cancer analysis of SETBP1 gene in different cancers for the first time. RESULTS: A novel heterozygous mutation of the SETBP1 gene (c.1724_1727del, p.D575Vfs*4) was found in the patient and the fetus and the mutation was predicted to result in a truncated protein. Reduced SETBP1 expression was associated with SETBP1-HD. The pan-cancer analysis of SETBP1 showed that SETBP1 overexpression should be given special attention in Bladder Urothelial Carcinoma (BLCA) and Stomach adenocarcinoma (STAD). CONCLUSIONS: The de novo SETBP1 mutation was the genetic cause of SETBP1-HD in the family. BLCA and STAD might be related to SETBP1 overexpression.

METTL3-Mediated m6A RNA Methylation of ZBTB4 Interferes With Trophoblast Invasion and Maybe Involved in RSA.

N6-methyladenosine (m6A) was the most abundant modification of mRNA and lncRNA in mammalian cells and played an important role in many biological processes. However, whether m6A modification was associated with recurrent spontaneous abortion (RSA) and its roles were still unclear. Methods: Methylated RNA immunoprecipitation sequencing (MeRIP-Seq) was used to study the global m6A modification pattern in RSAs and controls. RNA sequencing (RNA-Seq) was used to study the level of global mRNA in two groups. Real-time quantitative PCR (RT-qPCR) was used to verify the level of mRNA of METTL3 and ZBTB4. MeRIP-qPCR was conducted to test the level of ZBTB4 m6A modification in two groups. In order to further explore whether ZBTB4 was the substrate of METTL3, the HTR-8/SVneo (HTR-8) cell line was selected for the knockdown and overexpression of METTL3. To study whether METTL3 regulated the ZBTB4 expression by recognizing ZBTB4 mRNA m6A motifs in coding sequences (CDS), dual-luciferase reporter assay was conducted. RNA stability assays using actinomycin D were conducted to study the RNA stability of the HTR-8 cell line with METTL3 overexpression and knockdown. To illustrate the role of METTL3 in the invasion of trophoblast, matrigel invasion assays and transwell migration assays were conducted using the HTR-8 cell line with METTL3 overexpression and knockdown. Results: A total of 65 genes were found with significant differences both in m6A modification and mRNA expression. We found m6A methyltransferase METTL3 was significantly down-regulated in the RSA group. Through gene function analysis, RT-qPCR, MeRIP-qPCR validation experiment, knockdown, and overexpression of METTL3 in the HTR-8 cell line, ZBTB4 was selected as one target of METTL3. Furthermore, we clarified that METTL3 regulated the expression of ZBTB4 by recognizing ZBTB4 mRNA m6A motifs in the CDS using the dual-luciferase reporter assay and METTL3 regulated the invasion of trophoblast by altering the stability and expression of ZBTB4 by RNA stability, matrigel invasion, and transwell migration assays. Conclusion: Our study revealed the mechanism by which METTL3 regulated the stability and expression of ZBTB4 and the trophoblast migration ability of RSA. A new perspective was provided for exploring the mechanism of embryonic development in RSA patients.

[Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies].

Prospective research have shown that whole exome sequencing (WES) may be considered when a diagnosis cannot be obtained using routine prenatal methods, e.g., chromosomal karyotyping and copy number variation sequencing, for fetuses with significant structural anomalies. WES can increase the diagnostic rate of genetic disorders in such fetuses by 8% - 10%. Prenatal WES has been gaining wide acceptance. However, due to the limitations of fetal phenotypic evaluation and complexity of ethical issues in prenatal diagnosis, to justify and standardize the application of prenatal WES and maximize its clinical utility has become an urgent need. In view of this, a consensus has been formed by referring to the latest guidelines, expert consensus and authoritative literature. This consensus has put forward suggestions on the suitable objects of prenatal WES, pre-test consultation, sampling and laboratory testing, results report, post-test consultation, pregnancy outcome follow-up, multidisciplinary consultation of difficult cases, preservation of prenatal WES samples and data information.

Ability of Wearable Accelerometers-Based Measures to Assess the Stability of Working Postures.

With the rapid development and widespread application of wearable inertial sensors in the field of human motion capture, the low-cost and non-invasive accelerometer (ACC) based measures have been widely used for working postural stability assessment. This study systematically investigated the abilities of ACC-based measures to assess the stability of working postures in terms of the ability to detect the effects of work-related factors and the ability to classify stable and unstable working postures. Thirty young males participated in this study and performed twenty-four load-holding tasks (six working postures × two standing surfaces × two holding loads), and forty-three ACC-based measures were derived from the ACC data obtained by using a 17 inertial sensors-based motion capture system. ANOVAs, t-tests and machine learning (ML) methods were adopted to study the factors' effects detection ability and the postural stability classification ability. The results show that almost all forty-three ACC-based measures could (p < 0.05) detect the main effects of Working Posture and Load Carriage, and their interaction effects. However, most of them failed in (p ≥ 0.05) detecting Standing Surface's main or interaction effects. Five measures could detect both main and interaction effects of all the three factors, which are recommended for working postural stability assessment. The performance in postural stability classification based on ML was also good, and the feature set exerted a greater influence on the classification accuracy than sensor configuration (i.e., sensor placement locations). The results show that the pelvis and lower legs are recommended locations overall, in which the pelvis is the first choice. The findings of this study have proved that wearable ACC-based measures could assess the stability of working postures, including the work-related factors' effects detection ability and stable-unstable working postures classification ability. However, researchers should pay more attention to the measure selection, sensors placement, feature selection and extraction in practical applications.

A gonadal mosaicism novel KMT2D mutation identified by haplotype construction and clone sequencing strategy.

Here we reported a pedigree that gave birth to two characteristic clinical signs of Kabuki syndrome daughters. They had an intellectual disability with special facial features. Their eyebrows were relatively wide and the rear 1/3 of the eyebrows were light and sparse. Their eyes were long, narrow, valgus and strabismus. Their noses were broad at the root and flat at the tip. They also had skeletal dysplasia, mainly manifested in the short second knuckle of the little fingers of both hands. Genetic studies showed a novel de novo KMT2D variant (c.16343G > C; p.R5448P) as a cause of Kabuki syndrome. It was very unlikely that the same de novo mutation occurred in two members of a family. Gonadal mosaicism in one of the parents was suspected. Haplotype construction and clone sequencing were used for mutation source analysis. Finally, we inferred that the haplotype from the mother (Gdel-G-C-T-A) contained the pathogenic mutation. A gonadal mosaicism novel KMT2D mutation was identified in their mother.

Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function.

BACKGROUND: Desbuquois dysplasia (DBQD) was a rare autosomal recessive skeletal dysplasia. Calcium activated nucleotidase 1 (CANT1) mutation was identified as a common pathogenic change for DBQD type 1 and Kim variant but not for DBQD type 2. To our knowledge, all patients with DBQD type 1 currently found could be explained by mutations in the CANT1 gene, but mutations in the CANT1 gene might not be directly diagnosed as DBQD type 1. RESULTS: We have identified two novel CANT1 mutations (mut1: c.594G > A [p.Trp198*], mut2: c.734C > T [p.Pro245Leu]) in three children from a family of Chinese origin for the first time. Two of the three children could be diagnosed as typical DBQD type 1 and one child could not be diagnosed as DBQD type 1 based on the clinical data we had. To further clarify the effect of the two mutations of the CANT1 gene, we studied the CANT1 gene expression and detected the protein secretion and nucleotide enzyme activity through cDNA cloning and expression vectors construction for wild and mutant types. The mut1 was a nonsense mutation which could lead to premature termination and produced the truncated bodies; The CANT1 dimer of mut2 was significantly reduced and even undetectable. The extracellular secretion of mut1 was extremely high while mut2 was significantly reduced compared with the wild type. And mut1 and mut2 also could result in a significant reduction in the activity of CANT1 nucleotidease. From the results we could deduce that the two mutations of the CANT1 gene were the causes of the two cases in this study. CONCLUSIONS: Regarding the particularity of the cases reported in this study, the pathogenesis of CANT1 might be more complicated. The genetic and phenotype of three children with the same genetic background need to be further studied. Larger cohort of patients was needed to establish genotype-phenotype correlations in DBQD.

Effects of working posture, lifting load, and standing surface on postural instability during simulated lifting tasks in construction.

Postural instability is a major contributor to fatal and nonfatal falls in the construction industry. This study investigated the effects of working posture, lifting load and standing surface on perceived postural instability. Thirty young males performed simulated lifting tasks in construction using six different postures under four experimental conditions (2 loads × 2 surfaces). Results showed working postures with bending at the waist and overhead carrying were associated with high postural instability. With lifting load and inclined standing surface both significantly increased postural instability for all working postures except the full squatting. Full squatting with lifting load was more stable than without load for the flat surface, but opposite for the inclined surface. These findings indicate three investigated factors had not only significant main effects, but also complicated interaction effects on postural instability, implying that all three factors should be considered simultaneously for the real practice on fall prevention in construction. Practitioner summary: The leading causes of worker deaths in the construction industry were falls. This study showed that working postures with waist bending and overhead carrying were associated with high postural instability. With lifting load and inclined standing surface both significantly increased postural instability for all working postures except the full squatting.

A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon.

A couple with five adverse pregnancy history required prenatal diagnosis. The fetus of this study was their fifth pregnancy. The fetus was found NT thickening at 12 weeks and 4 days gestation and the average long bone of limbs retardation 4SD at 27 weeks and 4 days gestation. Karyotype was normal. The next-generation sequencing (NGS) and Sanger sequencing were conducted of this fetus. The compound heterozygous mutations c.3722_3749dup[p.V1252fs*23] and c.3355 + 5 G > A at CUL7 gene were detected. The mutation c.3355 + 5 G > A was a novel mutation within intron 17 of the CUL7 gene. Minigene array was used to verify whether the novel mutation c.3355 + 5 G > A really affected the splicing of CUL7gene. The results showed that the mutation could result in the appearance of premature termination codon. The fetus could be diagnosed as 3 M syndrome. We suggested that close attention needed to be paid to fetuses with intrauterine growth restriction only by ultrasonic and avoid misdiagnosis and missed diagnosis of 3 M syndrome. In addition, our study enriched gene mutations of 3 M syndrome.

[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].

OBJECTIVE: To explore the genetic basis of a pedigree affected with hereditary spherocytosis. METHODS: Peripheral blood samples were collected from 17 members of the pedigree. Genomic DNA of the proband was subjected to next generation sequencing. Candidate variant was validated by co-segregation analysis. pCAS2(c.5798+1G) and pCAS2(c.5798+1A) plasmids were constructed by homologous recombination and transfected into 293T cells. Reverse transcription PCR, TA cloning and Sanger sequencing were used to analyze the effect of candidate variant on splicing. Meanwhile, peripheral blood RNAs were extracted to analyze the effect of candidate variant on splicing in vivo. RESULTS: The proband was found to carry a c.5798+1G>A variant of the SPTB gene. The variant has co-segregated with the phenotype in the pedigree. In vitro and in vivo splicing experiments confirmed that the mutation has significantly affected the splicing, resulting in shift of reading frame and produced a premature termination codon. CONCLUSION: The novel c.5798+1G>A variant of the SPTB gene probably underlies the pathogenesis of hereditary spherocytosis in this pedigree.

[Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome].

OBJECTIVE: To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF). METHODS: Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing. Suspected variants were confirmed by Sanger sequencing. RESULTS: The fetus was found to carry compound heterozygous variants c.1440+1G>A and c.925G>T of the NPHS1 gene, which were respectively inherited from its mother and father. CONCLUSION: Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family.

Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.

Congenital hand malformations is rare and characterized by hand deformities. It is highly heterogeneous, both clinically and genetically, which complicates the identification of causative genes and mutations. Recently, targeted next-generation (NGS) sequencing has been successfully used for the detection of heterogeneous diseases, and the use of NGS also has contributed significantly in evaluating the etiology of heterogeneous disease. Here, we employed targeted NGS to screen 248 genes involved in genetic skeletal disorders, including congenital hand malformations. Three pathogenic mutations located in the GJA1, ROR2 and TBX5 genes were detected in three large Chinese families with congenital hand malformations. Two novel mutations were reported, and a known causative mutation was verified in this Chinese population. This is also the first report that the same panel of targeted NGS was employed to perform molecular diagnosis of different subtypes of congenital hand malformations. Our study supported the application of a targeted NGS panel as an effective tool to detect the genetic cause for heterogeneous diseases in clinical diagnosis.

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

Waardenburg syndrome (WS) is an auditory­pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY­box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array­based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice­site mutation MITF c.909G>A in family 03 and an in­frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling.

Accuracy of Base of Support Using an Inertial Sensor Based Motion Capture System.

The potential of miniature inertial sensors for human balance and gait analysis appears promising. Base of support (BOS), together with its interaction with center of mass, is a critical indicator in above mentioned research fields. This study aims to evaluate the accuracy of Xsens MVN BIOMECH, a commercial widely used inertial sensor-based motion capture system, for measuring static BOS and examine the effect of different task complexity on the accuracy. Eleven young males participated in this study and went through eleven different experimental tasks. Results showed there were considerable errors in estimating BOS area (error ranged from -12.6% to +64.6%) from Xsens MVN and a large error in foot separation distance when there was knee flexion. The estimated BOS area from MVN was smaller than the ground truth from footprint when there was no knee flexion, and larger when there was knee flexion, and it increased monotonically along with the knee flexion angles. Wrongly estimated foot separations, mainly caused by knee flexion, and the initial system estimation error on BOS, were two major reasons for error and instability of BOS estimation. The findings suggested that caution should be taken when using Xsens MVN BIOMECH to estimate BOS and foot position-related measurements, especially for postures/motions with knee flexion.

Exergame technology and interactive interventions for elderly fall prevention: A systematic literature review.

Training balance and promoting physical activities in the elderly can contribute to fall-prevention. Due to the low adherence of conventional physical therapy, fall interventions through exergame technologies are emerging. The purpose of this review study is to synthesize the available research reported on exergame technology and interactive interventions for fall prevention in the older population. Twenty-five relevant papers retrieved from five major databases were critically reviewed and analyzed. Results showed that the most common exergaming device for fall intervention was Nintendo Wii, followed by Xbox Kinect. Even though the exergame intervention protocols and outcome measures for assessing intervention effectiveness varied, the accumulated evidences revealed that exergame interventions improved physical or cognitive functions in the elderly. However, it remains inconclusive whether or not the exergame-based intervention for the elderly fall prevention is superior to conventional physical therapy and the effect mechanism of the exergaming on elderly's balance ability is still unclear.

[Mutation analysis for a large Chinese family affected with MYH9-related thrombocytopenia].

OBJECTIVE: To analyze the clinical manifestations and mutation of MYH9 gene in a large Chinese family affected with MYH9-related thrombocytopenia. METHODS: After informed consent was obtained; clinical examination and history investigation was performed on 29 members of the family. DNA was extracted using a standard method, then exons 1 to 40 and their corresponding exon-intron junctions of the MYH9 gene were amplified with PCR and subjected to Sanger sequencing. The results were compared to reference sequence from the University of California, Santa Cruz (UCSC) to screen the mutation. PCR and Sanger sequencing was performed on genome DNA of all family members to confirm the identified mutation. RESULTS: The clinical manifestations of family members were prominently heterogeneous. Four affected members showed hearing loss or deafness, two affected members showed nephritis or kidney failure, and other affected members was only characterized by mild bleeding or with no obvious symptoms. A heterozygous missense mutation c.4270G>A (p.Aspl841Asn) in exon 30 of the MYH9 gene was identified in all affected members from this family, which also co-segregated with the phenotype. CONCLUSION: A missense mutation c.4270G>A (p.Aspl841Asn) within the exon 30 of the MYH9 gene was identified to be associated with MYH9-related thrombocytopenia in a Chinese family.

A novel MIP mutation in familial congenital nuclear cataracts.

We screened 60 known genes which are involved in inherited cataract in a pregnant woman with a four-generation family history of autosomal dominant congenital nuclear cataract through next-generation sequencing (NGS) and identified a heterozygous mutation, c.508dupC (p.L170fs), in the major intrinsic protein (MIP) gene. This mutation results in a frame-shift in MIP and has not been previously reported. The correlation of the mutation with disease was validated by Sanger sequencing of DNA from the other affected or unaffected members of the family. Therefore, our data expand the mutation spectrum of MIP mutation, and suggest that NGS is an accurate, rapid, and cost-effective method in the genetic diagnosis of congenital nuclear cataract.