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Objective: The article aims to provide genetic counseling to a family with two children who were experiencing growth and developmental delays.Methods: Clinical information of the proband was collected. Peripheral blood was collected from core family members to identify the initial reason for growth and developmental delays by whole exome sequencing (WES) and Sanger sequencing. To ascertain the consequences of the newly discovered variants, details of the variants detected were analyzed by bioinformatic tools. Furthermore, we performed in vitro experimentation targeting SNX14 gene expression to confirm whether the variants could alter the expression of SNX14.Results: The proband had prenatal ultrasound findings that included flattened frontal bones, increased interocular distance, widened bilateral cerebral sulci, and shortened long bones, which resulted in subsequent postnatal developmental delays. The older sister also displayed growth developmental delays and poor muscle tone. WES identified compound heterozygous variants of c.712A>T (p.Arg238Ter) and .2744A>T (p.Gln915Leu) in the SNX14 gene in these two children. Both are novel missense variant that originates from the father and mother, respectively. Sanger sequencing confirmed this result. Following the guideline of the American College of Medical Genetics and Genomics (ACMG), the SNX14 c.712A>T (p.Arg238Ter) variant was predicted to be pathogenic (P), while the SNX14 c.2744A>T (p.Gln915Leu) variant was predicted to be a variant of uncertain significance (VUS). The structural analysis revealed that the c.2744A>T (p.Gln915Leu) variant may impact the stability of the SNX14 protein. In vitro experiments demonstrated that both variants reduced SNX14 expression.Conclusion: The SNX14 gene c.712A>T (p.Arg238Ter) and c.2744A>T (p.Gln915Leu) were identified as the genetic causes of growth and developmental delay in two affected children. This conclusion was based on the clinical presentations of the children, structural analysis of the mutant protein, and in vitro experimental validation. This discovery expands the range of SNX14 gene variants and provides a foundation for genetic counseling and guidance for future pregnancies in the affected children’s families.

The sandy cobble stratum presents a high risk for underground tunnel construction due to its low cohesive properties and susceptibility to loosening and falling. The use of Advanced ductule for grouting reinforcement inevitably results in vibrations, and understanding how these vibrations propagate is crucial in selecting tunnel engineering support schemes and responding to accident risks. Based on a bored tunnel under construction in Xi’an, field vibration propagation characteristics testing were carried out for advanced ductile installation. The time-history response and frequency distribution characteristics of the vibration velocity within the tunnel face under sandy cobble stratum conditions were studied, and the law of vibration propagation attenuation within the tunnel face range was obtained. The results showed that: 1) During the conduit drilling process, the tunnel face mainly experienced vertical vibrations, with the horizontal velocity amplitude accounting for only 15%–20% of the vertical velocity amplitude. At a distance of 1.0 m from the conduit, the vertical velocity amplitude reaches 10.602 mm/s, and the vibration energy concentrates mainly in the frequency range of 150–250 Hz. At a distance of 1.5 m from the conduit, the bidirectional vibration velocity significantly attenuates; 2) The vibration characteristics within the tunnel face can be classified into three primary areas: “Loose and Falling” area, “Significant Vibration” area, and “Vibration Attenuation” area. Loose, falling and significant vibrations occurred mainly within a range of about 1.25 m around the conduit. 3) As the diameter of the conduit decreases, the amplitude of vertical vibration velocity decreases by about 20%. By reducing the design diameter of the advanced ductule in a reasonable manner, it is possible to effectively mitigate the impact of vibration caused by the sandy cobble stratum during installation. This can yield a positive impact, curtailing the occurrence of the tunnel’s collapse phenomenon and ensuring its stability.

BackgroundIn recent studies, individual scapular anatomy has been found to be related to degenerative full-thickness rotator cuff tears. However, research on the relationship between the anatomical characteristics of shoulder radiographs and bursal-sided partial-thickness rotator cuff tears (PTRCTs) is limited, and the risk factors for this pathology still need to be determined.MethodsThe bursal-sided PTRCTs group included 102 patients without a history of shoulder trauma who underwent arthroscopy between January 2021 and October 2022. A total of 102 demographically matched outpatients with intact rotator cuffs were selected as the control group. Radiographs were used to measure the lateral acromial angle (LAA), critical shoulder angle (CSA), greater tuberosity angle (GTA), β-angle, acromion index (AI), acromiohumeral distance (AHD), acromial tilt (AT), acromial slope (AS), acromial type, and acromial spur by two independent observers. Multivariate analyses of these data were used to identify potential risk factors for bursal-sided PTRCTs. Receiver operating characteristic (ROC) analysis was performed to assess the sensitivity and specificity of CSA, GTA, and AI for this type of pathology.ResultThe β-angle, AHD, AS and acromion type showed no difference between bursal-sided PTRCTs and controls (p = 0.009, 0.200, 0.747 and 0.078, respectively). CSA, GTA and AI were significantly higher in bursal-sided PTRCTs (p

BackgroundBirthweight have profound impacts on health status throughout lifetime, however, the relationship between maternal ferritin level in pregnancy and birthweight of the newborn remains controversial.ObjectiveThis retrospective cohort research was to analyze the association between maternal ferritin levels during pregnancy with birthweight outcomes, primarily for low birthweight (LBW) and small for gestational age (SGA).MethodsNewborns weighing lower than 2,500 grams were defined as LBW. SGA is defined as birthweight lower than the 10th percentile of the distribution of newborns' birthweight of the same gestational age. Multivariable logistic regressions have been used to explore the association of maternal ferritin levels and birthweight related outcomes, in which the ferritin concentration was logarithm transformed in the model. We further used restricted cubic spline models to explore linear/non-linear dose–response manners of ferritin level and birthweight outcomes.ResultsA total of 3,566 pregnant women were included in the study. In the results of the present study, we observed that maternal ferritin levels were linearly associated with the risk of LBW (p-trend = 0.005) and SGA (p-trend = 0.04), with the adjusted odds ratios (ORs) of 1.78 (95% CI 1.37–2.32) for LBW and 1.87 (95% CI 1.38–2.54) for SGA with an increase in Ln-ferritin concentrations per unit. The adjusted ORs across quartiles of ferritin levels were 2.14 (95% CI 1.03–4.47) for Quartile 2, 3.13 (95% CI 1.47–6.69) for Quartile 3, and 3.63 (95% CI 1.52–8.68) for Quartile 4 for LBW. The adjusted ORs of LBW and SGA among women using supplemental iron were 0.56 (95% CI 0.38, 0.85) and 0.65 (95% CI 0.40, 1.05) compared with non-users, respectively.ConclusionsOur findings found a linear dose–response relationship between ferritin levels and an increased risk of poor birthweight outcomes, suggesting that maternal ferritin level during pregnancy may provide an additional predictor for differentiating poor birthweight related outcomes. Further exploration should be conducted to ensure maternal ferritin thresholds and iron supplement doses.

Matrix metalloproteinase 9 (MMP9) is an important member of the matrix metalloproteinase family and plays a key role in balancing extracellular matrix proteins. Studies have shown that the homozygous mutations in MMP9 can lead to metaphyseal anadysplasia type 2 (MANDP2, OMIM#613073). The clinical phenotype of this disease is limited and there were only five reported cases of MANDP2 associated with homozygous MMP9 mutations from three families. In this study, we described a case of a fetus with skeletal system malformation. The main clinical manifestations include the short bilateral femur, absence of right fibula, and curved ipsilateral tibia with short length. Importantly, two novel compound heterozygous variants of the MMP9 gene (NM_004,994.3: c.151C > T and c.929del) were found through the trio whole exome sequencing and Sanger sequencing. This is the first report that identified the compound heterozygous variants of the MMP9 gene associated with metaphyseal dysplasia type 2.

Winter jujube fruit is susceptible to aging, peel reddening, dehydration, shrinkage, and tissue softening during shelf life after it is removed from the cold storage conditions. In this study, the effects of 1-methylcyclopropene (1-MCP) and salicylic acid (SA) on the quality of winter jujube fruit during shelf life were investigated by measuring physiological indexes and the activities of antioxidant enzymes and enzymes related to reactive oxygen species (ROS) metabolism of winter jujube fruit. The results showed that 1-MCP treatment and SA treatment suppressed weight loss, respiratory rate, malondialdehyde (MDA) content, H2O2 content, and O2-· production rate, but improved firmness, color difference (ΔE), soluble solid content (SSC), titratable acidity (TA), superoxide dismutase (SOD), peroxidase (POD), catalase (CAT), ascorbate peroxidase (APX), glutathione reductase (GR), phenylalanine ammonia-lyase (PAL) activities, ascorbic acid content, glutathione content, total phenolic content, and total flavonoid content in comparison with the control. Particularly, the combined treatment of 1-MCP and SA (1-MCP+SA treatment) showed the maximum efficacy compared to the 1-MCP treatment and SA treatment alone. 1-MCP+SA treatment exhibited the best preservation effect, followed by SA treatment and 1-MCP treatment. Thus, the combined treatment of 1-MCP and SA is an effective approach to maintain the postharvest quality of winter jujube fruit and extend the shelf life.

Organoids well recapitulate organ-specific functions from their tissue of origin and remain fundamental aspects of organogenesis. Organoids are widely applied in biomedical research, drug discovery, and regenerative medicine. There are various cultivated organoid systems induced by adult stem cells and pluripotent stem cells, or directly derived from primary tissues. Researchers have drawn inspiration by combination of organoid technology and tissue engineering to produce organoids with more physiological relevance and suitable for translational medicine. This review describes the value of applying organoids for tumorigenesis modeling and tumor vaccination. We summarize the application of organoids in tumor precision medicine. Extant challenges that need to be conquered to make this technology be more feasible and precise are discussed.