Low muscle density in children with osteogenesis imperfecta using opportunistic low-dose chest CT: a case-control study.

BACKGROUND: The aim of the study was to investigate the muscle differences in children with osteogenesis imperfecta (OI) using opportunistic low-dose chest CT and to compare different methods for the segmentation of muscle in children. METHODS: This single center retrospective study enrolled children with OI and controls undergoing opportunistic low-dose chest CT obtained during the COVID pandemic. From the CT images, muscle size (cross-sectional area) and density (mean Hounsfield Units [HU]) of the trunk muscles were measured at the mid-T4 and the mid-T10 level using two methods, the fixed thresholds and the Gaussian mixture model. The Bland-Altman method was also used to compute the strength of agreement between two methods. Comparison of muscle results between OI and controls were analyzed with Student t tests. RESULTS: 20 children with OI (mean age, 9.1 ± 3.3 years, 15 males) and 40 age- and sex-matched controls were enrolled. Mean differences between two methods were good. Children with OI had lower T4 and T10 muscle density than controls measured by the fixed thresholds (41.2 HU vs. 48.0 HU, p < 0.01; 37.3 HU vs. 45.9 HU, p < 0.01). However, children with OI had lower T4 muscle size, T4 muscle density, T10 muscle size and T10 muscle density than controls measured by the Gaussian mixture model (110.9 vs. 127.2 cm2, p = 0.03; 44.6 HU vs. 51.3 HU, p < 0.01; 72.6 vs. 88.0 cm2, p = 0.01; 41.6 HU vs. 50.3 HU, p < 0.01, respectively). CONCLUSIONS: Children with OI had lower trunk muscle density indicating that OI might also impair muscle quality. Moreover, the fixed thresholds may not be suitable for segmentation of muscle in children.

Unraveling the genetic basis of grain number-related traits in a wheat-Agropyron cristatum introgressed line through high-resolution linkage mapping.

BACKGROUND: Grain number per spike (GNS) is a pivotal determinant of grain yield in wheat. Pubing 3228 (PB3228), a wheat-Agropyron cristatum germplasm, exhibits a notably higher GNS. RESULTS: In this study, we developed a recombinant inbred line (RIL) population derived from PB3228/Gao8901 (PG-RIL) and constructed a high-density genetic map comprising 101,136 loci, spanning 4357.3 cM using the Wheat 660 K SNP array. The genetic map demonstrated high collinearity with the wheat assembly IWGSC RefSeq v1.0. Traits related to grain number and spikelet number per spike were evaluated in seven environments for quantitative trait locus (QTL) analysis. Five environmentally stable QTLs were detected in at least three environments. Among these, two major QTLs, QGns-4A.2 and QGns-1A.1, associated with GNS, exhibited positive alleles contributed by PB3228. Further, the conditional QTL analysis revealed a predominant contribution of PB3228 to the GNS QTLs, with both grain number per spikelet (GNSL) and spikelet number per spike (SNS) contributing to the overall GNS trait. Four kompetitive allele-specific PCR (KASP) markers that linked to QGns-4A.2 and QGns-1A.1 were developed and found to be effective in verifying the QTL effect within a diversity panel. Compared to previous studies, QGns-4A.2 exhibited stability across different trials, while QGns-1A.1 represents a novel QTL. The results from unconditional and conditional QTL analyses are valuable for dissecting the genetic contribution of the component traits to GNS at the individual QTL level and for understanding the genetic basis of the superior grain number character in PB3228. The KASP markers can be utilized in marker-assisted selection for enhancing GNS. CONCLUSIONS: Five environmentally stable QTLs related to grain number and spikelet number per spike were identified. PB3228 contributed to the majority of the QTLs associated with GNS.

Correction to: Intrathecal Epigallocatechin Gallate Treatment Improves Functional Recovery After Spinal Cord Injury by Upregulating the Expression of BDNF and GDNF.

Since the publication of our article [1] it has come to our attention that there was an error in Figure 4 in which the bottom left immunochemistry panel Control/Bax was a duplication of the bottom right immunohistochemistry panel EGCG/GDNF in Figure 3.

[Ultrasonographic and clinical features of common testicular germ cell tumors in children].

OBJECTIVE: To study the ultrasonographic manifestations and clinical features of common pediatric testicular germ cell tumors (TGCT) in children. METHODS: We retrospectively analyzed the laboratory, ultrasonographic and clinical data on 92 children with TGCT diagnosed in Shanghai Children's Hospital from March 2013 to January 2019, and investigated the values of the serum alpha-fetoprotein (AFP) level and maximum diameter of tumors in the diagnosis of benign and malignant tumors using the ROC curve. RESULTS: Of the 92 cases of pediatric TGCT, 64 (69.6%) were pathologically confirmed as benign tumors, including 40 cases of teratoma (62.5%), 18 cases of epidermoid cyst (28.1%) and 6 cases of dermoid cyst (9.4%), and the other 28 (30.4%) as malignant neoplasms, including 26 cases of yolk sac tumor (YST, 92.9%) and 2 cases of mixed germ cell tumor (MGCT, 7.1%). Ultrasonography showed that 62.5% of the teratomas were cystic-solid mixed (25/40) and 32.5% solid masses (12/40), that 33.3% of the epidermoid cysts exhibited a typical sign of "onion ring" (6/18) and 22.2% that of capsular calcification (4/18), and that 42.3% of the YSTs displayed isoechoic (11/26), 30.9% hypoechoic (8/26) solid masses without calcium and 26.9% cystic anechoic lesions (7/26). Color Doppler blood flow imaging manifested abundant blood flow signals in most of the YSTs (25/26, 96.2%) but none in either the epidermoid or the dermoid cysts. The area under the ROC curve (AUC) of the serum AFP value was 0.985, with an optimal cutoff value of 124.2 ng/ml, and the sensitivity and specificity of AFP in the diagnosis of benign and malignant tumors were 92.9% and 93.7%, respectively. The AUC of the maximum diameter of the tumors was 0.796, with an optimal cutoff value of 2.7 cm, and the sensitivity and specificity of the maximum diameter of the tumors in the diagnosis of benign and malignant neoplasms were 57.1% and 93.7%, respectively. CONCLUSIONS: Ultrasonographic images have different characteristic manifestations for different pathological types of pediatric TGCT. Pediatric TGCT has a good prognosis and radical orchiectomy should be considered for the treatment of the tumors with serum AFP ≥ 124.2 ng/ml and a diameter ≥ 2.7 cm.

[Clinical and ultrasonographic features of testis tumor in children of different ages].

OBJECTIVE: To explore the ultrasonographic characteristics of testis tumor in children of different ages. METHODS: We retrospectively analyzed the clinical data, ultrasonographic results, surgical methods and pathological findings of 76 children with testis tumor treated in Shanghai Children's Hospital between April 2013 and March 2018. According to the age at the first diagnosis, we divided the patients into a 0－4 yr (n = 57) and a 5－12 yr group (n = 19), and compared the clinical manifestations, tumor markers, ultrasonographic features such as the tumor size, echogenicity, calcification and color flow images, pathological findings, and surgical methods between the two groups of patients. RESULTS: Benign tumors were found in 73.4% of the 76 children and in 100% of the patients in the 5－12 yr group, with epidermoid cyst as the most common type (52.6% ï¼»10/19ï¼½), 47.4% (9/19) found accidentally, 94.7% (9/19) without elevation of the alpha-fetoprotein (AFP) level, and 94.7% (9/19) treated by testis-sparing surgery (TSS). In the 0－4 yr group, teratoma and yolk sac tumors were the most common and 87.7% (50/57) of the cases were characterized by painless scrotal swelling with a normal or elevated AFP level, treated by TSS or radical orchiectomy. There were statistically significant differences between the two groups of patients in the clinical manifestations, AFP values, pathological findings and surgical methods (all P < 0.05), but not in the ultrasonographic results, mostly solid or mixed cystic-solid masses (χ2 = 0.908, P = 0.635). The maximum diameter of the tumors was smaller and the volume of the healthy contralateral testis was greater in the 5－12 yr than in the 0－4 yr group (t = 2.673 and 2.858, P = 0.009 and 0.010). The proportions of the tumors with calcification and those with grade 0 blood flow were significantly higher in the former than in the latter group (χ2 = 4.825 and 12.298, P = 0.028 and 0.006). CONCLUSIONS: Testis tumors have different clinical and ultrasonographic features in children of different age groups, malignancy mostly in 0- to 4-year-olds while benignancy commonly in 5- to 12-year-olds, frequently with normal AFP, calcification, and less abundant color blood flow. TSS is recommended for the treatment of testis tumor with serum AFP negative in 5－12 years old children.

[High-frequency ultrasonography for diagnosis and differential diagnosis of acute scrotum in children].

OBJECTIVE: To analyze the high-frequency ultrasound image features of acute scrotum in children and explore the value of high-frequency ultrasonography in the diagnosis and differential diagnosis of the disease. METHODS: This retrospective study included 256 children aged 2 days to 14 years undergoing color Doppler ultrasonography at 2 hours to 3 days after onset of acute scrotum. We analyzed the morphology, internal echo and blood supply of the testis in comparison with the clinical and pathological results. RESULTS: Among the 256 cases, acute testicular torsion was found in 23, of which 16 were treated by complete resection the necrotic testis and the other 7 by surgical reduction of testicular torsion. Ultrasonographically, the involved testes presented different degrees of increase or decrease in volume, with uneven internal echoes, irregular hypoechoic flakes, and testicular hydrocele. Color Doppler flow imaging (CDFI) showed significant blood flow signals around the diseased testes but none within them. Acute testicular appendix torsion was found in 116 cases, in which ultrasonography manifested nodules with round or oval abnormal echoes between the upper pole of the testis and caput epididymidis, first hypoechoic and then gradually increased, heterogeneous internally. CDFI revealed enlarged epididymides and enriched testicular blood flow but no blood flow signals in the nodules. The 103 cases of acute epididymitis were ultrasonographically characterized by varied degrees of swelling of the involved epididymis with uneven internal echoes and rich blood flow signals on CDFI. Six of the cases were diagnosed as acute orchitis, with the ultrasonographic features of testicular swelling and low but uniform internal echoes, with rich blood flow signals on CDFI. Incarcerated inguinal hernia was confirmed in 15 cases, in which ultrasonography revealed intrusion of the hernia into the obviously enlarged scrotal sac with the mesentery and intestine in it, and blood flow visible on CDFI. Acute scrotal wall hematoma and edema was found in 8 cases, with the ultrasonographic characteristics of scrotal wall thickening, with visible blood flow signals on CDFI. CONCLUSIONS: High-frequency ultrasonography has a high sensitivity and specificity for acute scrotum in children, which can be applied as the first-choice clinical imaging modality and provide reliable evidence for the diagnosis and differential diagnosis of the disease.

Application of 3D­printed porous titanium interbody fusion cage vs. polyether ether ketone interbody fusion cage in anterior cervical discectomy and fusion: A systematic review and meta­analysis update.

The present study aimed to compare the differences between 3D-printed porous titanium and polyether ether ketone (PEEK) interbody fusion cages for anterior cervical discectomy and fusion (ACDF). Literature on the application of 3D-printed porous titanium and PEEK interbody fusion cages for ACDF was searched in the PubMed, Web of Science, Embase, China National Knowledge Infrastructure, Wanfang and VIP databases. A total of 1,181 articles were retrieved and 12 were finally included. The Cochrane bias risk assessment criteria and Newcastle-Ottawa scale were used for quality evaluation and Review Manager 5.4 was used for data analysis. The 3D cage group was superior to the PEEK cage group in terms of operative time [mean difference (MD): -7.68; 95% confidence interval (CI): -11.08, -4.29; P<0.00001], intraoperative blood loss (MD: -6.17; 95%CI: -10.56, -1.78; P=0.006), hospitalization time (MD: -0.57; 95%CI: -0.86, -0.28: P=0.0001), postoperative complications [odds ratio (OR): 0.35; 95%CI: 0.15, 0.80; P=0.01], C2-7 Cobb angle (MD: 2.85; 95%CI: 1.45, 4.24; P<0.0001), intervertebral space height (MD: 1.20; 95%CI: 0.54, 1.87; P=0.0004), Japanese Orthopaedic Association Assessment of Treatment (MD: 0.69; 95%CI: 0.24, 1.15; P=0.003) and visual analogue scale score (MD: -0.43; 95%CI: -0.78, -0.07; P=0.02). The difference was statistically significant, while there was no significant difference between the two groups in terms of fusion rate (OR: 1.74; 95%CI: 0.71, 4.27; P=0.23). The use of 3D-printed porous titanium interbody fusion cage in ACDF has the advantages of short operation time, less bleeding loss, shorter hospitalization time and fewer postoperative complications. It can better maintain the cervical curvature and intervertebral height, relieve pain and accelerate postoperative functional recovery.

Soluble ST2 is a biomarker associated with left ventricular hypertrophy and concentric hypertrophy in patients with essential hypertension.

BACKGROUND: Elevated soluble stimulating factor 2 (sST2) level is observed in cardiovascular diseases, such as heart failure and acute coronary syndrome, which reflects myocardial fibrosis and hypertrophy, indicating adverse clinical outcomes. However, the association between sST2 and hypertensive heart disease are less understood. This study aimed to determine the relationship of sST2 with left ventricular hypertrophy (LVH) and geometric remodeling in essential hypertension (EH). METHODS: We enrolled 483 patients (aged 18-80 years; 51.35% female). sST2 measurements and echocardiographic analyses were performed. RESULTS: Stepwise multiple linear regression analysis showed significant associations between sST2, left ventricular (LV) mass, and LV mass index. The prevalence of LVH and concentric hypertrophy (CH) increased with higher sST2 grade levels (p for trend<0.05). Logistic regression analysis suggested that the highest tertile of sST2 was significantly associated with increased LVH risk, compared with the lowest tertile (multivariate-adjusted odds ratio [OR] of highest group: 6.61; p<0.001). Similar results were observed in the left ventricular geometric remodeling; the highest tertile of sST2 was significantly associated with increased CH risk (multivariate-adjusted OR of highest group: 5.80; p<0.001). The receiver operating characteristic analysis results revealed that sST2 had potential predictive value for LVH (area under the curve [AUC]: 0.752, 95% confidence interval [CI]: 0.704-0.800) and CH (AUC: 0.750, 95% CI: 0.699-0.802) in patients with EH. CONCLUSIONS: High sST2 level is strongly related to LVH and CH in patients with EH and can be used as a biomarker for the diagnosis and risk assessment of hypertensive heart disease.

Association of IL­6 and MMP­3 gene polymorphisms with adolescent idiopathic scoliosis: A systematic review and meta­analysis.

The pathogenesis of adolescent idiopathic scoliosis (AIS) remains unclear. It has been found that interleukin-6 (IL-6) rs1800795 locus and matrix metalloproteinase-3 (MMP-3) rs3025058 locus gene polymorphisms may be associated with AIS susceptibility, which has been controversial and needs to be further confirmed by updated meta-analysis. The aim of the present study was to investigate the association of MMP-3 rs3025058 and IL-6 rs1800795 single nucleotide polymorphisms (SNPs) with susceptibility to AIS. All relevant articles that met the criteria were retrieved and included, and the publication dates were limited from January 2005 to December 2023. The allele frequencies and different genotype frequencies of IL-6 rs1800795 and MMP-3 rs3025058 loci in each study were extracted and statistically analyzed by ReviewManager 5.4 software, and the odds ratio (OR) and 95% confidence interval (95% CI) of different genetic models were calculated. The results of the meta-analysis showed that there was no significant association between the gene polymorphism of IL-6 rs1800795 locus and the pathogenesis of AIS. The allele 5A and genotype 5A5A of MMP-3 rs3025058 SNP were associated with AIS susceptibility (5A vs. 6A, OR=1.18; 95% CI, 1.04-1.33; 5A5A vs. 6A6A, OR=1.65; 95% CI, 1.23-2.21; and 5A5A vs. 5A6A + 6A6A, OR=1.54; 95% CI, 1.19-1.99). Results of subgroup analysis revealed that the allele 5A and genotype 5A5A of MMP-3 rs3025058 SNP were associated with AIS susceptibility in the Caucasian population, and the susceptibility of AIS was associated with the genotype 5A5A of MMP-3 rs3025058 SNP in an Asian population. There was no significant association between the gene polymorphism of IL-6 rs1800795 locus and the pathogenesis of AIS, while the allele 5A of MMP-3 rs3025058 locus was associated with the susceptibility to AIS, especially in the Caucasian population.

Comparison between minimally invasive and open transforaminal lumbar interbody fusion for the treatment of multi­segmental lumbar degenerative disease: A systematic evaluation and meta­analysis.

The present study aimed to compare the differences between minimally invasive transforaminal lumbar fusion (MIS-TLIF) and open transforaminal lumbar fusion (TLIF) for multi-segmental lumbar degenerative disease regarding intraoperative indices and postoperative outcomes. PubMed, Web of Science, Embase, CNKI, Wanfang and VIP databases were searched for literature on MIS-TLIF and open TLIF in treating multi-segmental lumbar degenerative diseases. Of the 1,608 articles retrieved, 10 were included for final analysis. The Newcastle-Ottawa Scale and Review Manager 5.4 were used for quality evaluation and data analysis, respectively. The MIS-TLIF group was superior to the open TLIF group regarding intraoperative blood loss [95% confidence interval (CI): -254.33,-157.86; P<0.00001], postoperative in-bed time (95%CI: -3.49,-2.76; P<0.00001), hospitalization time (95%CI: -5.14,-1.78; P<0.0001) and postoperative leg pain Visual Analog Scale score (95%CI: -0.27,-0.13; P<0.00001). The fluoroscopy frequency for MIS-TLIF (95%CI: 2.07,6.12; P<0.0001) was significantly higher than that for open TLIF. The two groups had no significant differences in operation time, postoperative drainage volume, postoperative complications, fusion rate, or Oswestry Disability Index score. In treating multi-segmental lumbar degenerative diseases, MIS-TLIF has the advantages of less blood loss, shorter bedtime and hospitalization time and improved early postoperative efficacy; however, open TLIF has a lower fluoroscopy frequency.

Cirrhotic-extracellular matrix attenuates aPD-1 treatment response by initiating immunosuppressive neutrophil extracellular traps formation in hepatocellular carcinoma.

BACKGROUND: Hepatocellular carcinoma (HCC) is closely associatedwith chronic liver diseases, particularly liver cirrhosis, which has an altered extracellular matrix (ECM) composition. The influence and its mechanism of the cirrhotic-ECM on the response of HCC to immune checkpoint inhibitor (ICI) remains less clarified. METHODS: In silico, proteomic and pathological assessment of alteration of cirrhotic-ECM were applied in clinical cohort. Multiple pre-clinical models with ECM manipulation were used to evaluate cirrhotic-ECM's effect on ICI treatment. In silico, flow cytometry and IHC were applied to explore how cirrhotic-ECM affect HCC microenvironment. In vitro and in vivo experiments were carried out to identify the mechanism of how cirrhotic-ECM undermined ICI treatment. RESULTS: We defined "a pro-tumor cirrhotic-ECM" which was featured as the up-regulation of collagen type 1 (Col1). Cirrhotic-ECM/Col1 was closely related to impaired T cell function and limited anti PD-1 (aPD-1) response of HCC patients from the TCGA pan cancer cohort and the authors' institution, as well as in multiple pre-clinical models. Mechanically, cirrhotic-ECM/Col1 orchestrated an immunosuppressive microenvironment (TME) by triggering Col1-DDR1-NFκB-CXCL8 axis, which initiated neutrophil extracellular traps (NETs) formation to shield HCC cells from attacking T cells and impede approaching T cells. Nilotinib, an inhibitor of DDR1, reversed the neutrophils/NETs dominant TME and efficiently enhanced the response of HCC to aPD-1. CONCLUSIONS: Cirrhotic-ECM modulated a NETs enriched TME in HCC, produced an immune suppressive TME and weakened ICI efficiency. Col1 receptor DDR1 could be a potential target synergically used with ICI to overcome ECM mediated ICI resistance. These provide a mechanical insight and novel strategy to overcome the ICI resistance of HCC.

Intrathecal epigallocatechin gallate treatment improves functional recovery after spinal cord injury by upregulating the expression of BDNF and GDNF.

This study aimed to investigate the therapeutic effects of epigallocatechin-3-gallate (EGCG) administered by subarachnoid injection following spinal cord injury (SCI) in rats and to explore the underlying mechanism. Sprague-Dawley rats were randomly divided into four groups of 12 as follows: a sham group (laminectomy only); a control group; a 10 mg/kg EGCG-treated group; and a 20 mg/kg EGCG-treated group. SCI was induced in the rats using the modified weight-drop method (10 g × 4 cm) at the T10 (10th thoracic vertebral) level. EGCG (10 or 20 mg/kg) or vehicle as control was administered by subarachnoid injection at lumbar level 4 immediately after SCI. Locomotor functional recovery was assessed during the four weeks post-operation using open-field locomotor tests and inclined-plane tests. At the end of the study, the segments of spinal cord encompassing the injury site were removed for histopathological analysis. Immunohistochemical and Western blot analyses were performed to observe the expression of: the B cell CLL/lymphoma-2 (Bcl-2), Bcl-2-associated X protein (Bax), brain-derived neurotrophic factor (BDNF) and glial cell line-derived neurotrophic factor (GDNF). The results showed that the EGCG-treated animals had significantly better recovery of locomotor function, less myelin loss, greater Bcl-2 expression and attenuated Bax expression. In addition, the EGCG treatment significantly increased the expression of BDNF and GDNF after SCI. These findings suggest that EGCG treatment can significantly improve locomotor recovery, and this neuroprotective effect may be related to the up-regulation of BDNF and GDNF, and the inhibition of apoptosis-related proteins. Therefore, EGCG may be a promising therapeutic agent for SCI.

Efficacy and safety of unilateral biportal endoscopy compared with microscopic decompression in the treatment of lumbar spinal stenosis: A systematic review and updated meta­analysis.

The incidence of lumbar spinal stenosis is increasing annually, and with an ever-aging population and longer life expectancies, this trend will further continue. It is hoped that a more effective treatment can be found so that the patients can be relieved of their pain. The aim of this systematic review and meta-analysis was to evaluate the effectiveness and safety of unilateral biportal endoscopic surgery (UBE) and microscopic decompression surgery (MD) for the treatment of lumbar spinal stenosis. A literature search of related studies published until April 2022 was performed using PubMed, EMBASE, Cochrane Library, Web of Science, ClinicalTrials.gov, Google Scholar, China National Knowledge Infrastructure (CNKI), and other databases. After filtering of references, 12 eligible studies were identified that compared UBE with MD as a treatment for lumbar spinal stenosis. Data were extracted and analysed using R. A total of 12 articles (four randomized controlled and eight cohort studies) were included, with a total of 1,067 patients: 250 men and 249 women in the UBE group and 290 men and 278 women in the MD group. The meta-analysis showed that the mean intraoperative blood loss in the UBE group [standardized mean difference (SMD)=-2.10, 95% confidence interval (CI) (-3.97, -0.23), P=0.03] was lower than that in the MD group. The postoperative Visual analogue scale (VAS) score for back pain [SMD=-0.52, 95% CI (-0.76, -0.27), P<0.01], leg pain [SMD=-0.30, 95% CI (-0.51, -0.08), P<0.01], postoperative Oswestry disability index [(ODI); SMD=-0.25, 95% CI (-0.48, -0.03), P=0.03], and postoperative C-reactive protein [(CRP); odds ratio (OR)=-0.92, 95% CI (-1.80, 0.03), P=0.04] were lower than those in the MD group. Complications (OR=0.60, 95% CI (0.37, 0.98), P=0.04) and hospital stay (SMD=-1.84, 95% CI (-2.85, 0.83), P <0.01] were also lesser in the UBE group than in the MD group. UBE was preferable to that in the MD group according to the modified MacNab score [OR=2.28, 95% CI (1.28, 4.06), P<0.01]. No significant differences were observed in the operation times between the groups. UBE surgery was found to be a better option for the treatment of lumbar spinal stenosis than MD surgery.

A rare presentation of Maffucci syndrome: A case report and literature review.

Maffucci syndrome is an extremely rare disease which can manifest symptoms as early as childhood. It is estimated that there have been <300 cases reported globally; however, this number is likely to be an underestimate. Maffucci syndrome is characterized by multiple enchondromas and soft tissue hemangiomas, which can cause growth and developmental malformations. In addition to bone deformities, pathological fractures and a loss of mobility, patients with Maffucci syndrome may develop secondary central chondrosarcoma and have a higher risk of developing non-skeletal malignant tumors, such as gliomas and mesenchymal ovarian tumors. The present study provides information for clinicians about this disease through the use of imaging, physical examinations, clinical manifestations and the treatment strategy used. There is need to summarize the existing cases of this disease around the world and produce an effective framework for the diagnosis, treatment and prevention of Maffucci syndrome, in order to better understand this disease. The present study reports on a 15-year-old male diagnosed with Maffucci syndrome. . Due to the risk of malignant tumor development in the absence of effective treatment, regular and careful observation through monitoring of tumor markers and imaging studies is important for patients with Maffucci syndrome. As cases of this disease are rare and case data is limited, it is difficult to create a clear treatment plan. There is an urgent need to establish a case database of Maffucci syndrome patients and explore its pathogenesis for early diagnosis, treatment and prevention of disease.

The association of growth differentiation factor 5 rs143383 gene polymorphism with osteoarthritis: a systematic review and meta-analysis.

BACKGROUND: Osteoarthritis (OA) is caused by a complex set of pathophysiological factors. The genetic factors involved in the occurrence and progress of the disease have been widely discussed by scholars. It was found that growth differentiation factor 5 (GDF5) gene polymorphisms may be linked to OA susceptibility, which has been controversial and needs to be further confirmed by an updated meta-analysis. OBJECTIVES: We examined the association between GDF5 rs143383 single nucleotide polymorphism (SNP) and OA susceptibility. METHODS: All relevant articles that met the criteria are retrieved and included, and the search deadline is June 2022. The allele frequencies and different genotype frequencies of GDF5 rs143383 loci in each study were extracted and statistically analyzed by R4.1.3 software, and the different genetic models were analyzed based on their odds ratio (OR) and 95% confidence interval (CI). RESULTS: The meta-analysis explained that GDF5 rs143383 SNP was crucial correlated with OA in all patients with OA of knee, hip and hand. The codominant gene model in the whole crowd (OR = 1.17, 95% CI 1.07-1.27, P < 0.01) enlightened that OA was vitally associated with GDF5 gene polymorphism. At the same time, we did a subgroup analysis based on ethnicity. The codominant gene model (OR = 1.31, 95% CI 1.12-1.53, P < 0.01) in Asian population, the codominant homozygote model (OR = 1.28, 95% CI 1.14-1.43), codominant heterozygote gene model (OR = 1.12, 95% CI 1.01-1.23, P = 0.02), and dominant gene model (OR = 1.19, 95% CI 1.09-1.31, P < 0.01) in Caucasian are analyzed by subgroup analysis. It means that there is a momentous relationship between the GDF5rs143383 gene polymorphism and OA, especially among Caucasians. In addition, we also discussed different types of OA separately and discover that the GDF5rs143383 gene polymorphism was relevant for knee osteoarthritis (KOA) and hand osteoarthritis, and it was more significant in the Caucasian population. But due to the high heterogeneity in hip osteoarthritis, it could not be accurately concluded. Furthermore, we also analyzed the osteoarthritis of different genders and found that the GDF5 rs143383 SNP was associated with both men and women and was still significant in the Caucasian population. CONCLUSION: We found a close association between osteoarthritis and GDF5rs143383SNP in this study. From the analysis of each group, we got the same conclusion in KOA and hand OA, but which need further verification in hip OA. Considering gender, we found a close relationship between GDF5 rs143383 SNP and OA of the knee, hip and hand, both for men and women. This conclusion is more obvious in Caucasian people.

The development and application of pediatric complicated appendicitis prediction model.

BACKGROUND: Acute appendicitis in children refers to the acute inflammation of the appendix, which accounts for 20% ∼ 30% of cases of acute abdomen in pediatric surgery. OBJECTIVE: This study aimed to establish a decision tree model of complicated appendicitis in children using appendiceal ultrasound combined with an inflammatory index and evaluated its clinical efficacy in pediatric patients. METHODS: A total of 395 children admitted to the Emergency Department of the Shanghai Children's Hospital from January 2018 to December 2021 and diagnosed with appendicitis by postoperative pathology were retrospectively analyzed. According to the postoperative pathology, the children were divided into a complicated and non-complicated appendicitis group, respectively. Routine laboratory inflammatory indicators, including white blood cell count, N(%), neutrophil (Neu) count, Neu/lymphocyte ratio (NLR), C-reactive protein (CRP), and procalcitonin were collected from the two groups. Collecting data on ultrasound examination of the appendix includes whether the appendix diameter is thickened, whether the echogenicity of the mesenteric rim surrounding the appendix is enhanced, whether there is rich blood supply in the appendix, and whether there are fecaliths in the appendix lumen. The risk factors for complicated appendicitis were screened out by univariate and multivariate logistic regression analyses, the binary logistic regression prediction and decision tree models were established, respectively, and the receiver operating characteristic (ROC) curve was used to verify the accuracy of the two prediction models. RESULTS: Binary logistic regression analysis showed that CRP, NLR, the presence of an appendicolith, and peripheral retina echo enhancement were independent risk factors for complicated appendicitis in children (P< 0.05). The decision tree model had an overall accuracy of 79%, an area under the ROC curve (AUC) of 0.809 (95% confidence interval [CI] 0.780-0.865), and sensitivity and specificity of 71.3% and 77.7%, respectively. The logistic regression model had an overall accuracy of 74.9%, an AUC value of 0.823 (95% CI, 0.765-0.853), a sensitivity value of 80.3%, and a specificity of 71.8%. CONCLUSION: This predictive model, based on ultrasound of the appendix combined with inflammatory markers, provides a useful method to assist pediatric emergency physicians in diagnosing childhood appendicitis. The decision tree model reflected the interaction of various indexes, and the model was simple, intuitive, and effective.

QTL mapping for seedling traits in wheat grown under varying concentrations of N, P and K nutrients.

Nutrient use efficiency (NuUE), comprising nutrient uptake and utilization efficiency, is regarded as one of the most important factors for wheat yield. In the present study, six morphological, nine nutrient content and nine nutrient utilization efficiency traits were investigated at the seedling stage using a set of recombinant inbred lines (RILs), under hydroponic culture of 12 treatments including single nutrient levels and two- and three-nutrient combinations treatments of N, P and K. For the 12 designed treatments, a total of 380 quantitative trait loci (QTLs) on 20 chromosomes for the 24 traits were detected. Of these, 87, 149 and 144 QTLs for morphological, nutrient content and nutrient utilization efficiency traits were found, respectively. Using the data of the average value (AV) across 12 treatments, 70 QTLs were detected for 23 traits. Most QTLs were located in new marker regions. Twenty-six important QTL clusters were mapped on 13 chromosomes, 1A, 1B, 1D, 2B, 3A, 3B, 4A, 4B, 5D, 6A, 6B, 7A and 7B. Of these, ten clusters involved 147 QTLs (38.7%) for investigated traits, indicating that these 10 loci were more important for the NuUE of N, P and K. We found evidence for cooperative uptake and utilization (CUU) of N, P and K in the early growth period at both the phenotype and QTL level. The correlation coefficients (r) between nutrient content and nutrient utilization efficiency traits for N, P and K were almost all significantly positive correlations. A total of 32 cooperative CUU loci (L1-L32) were found, which included 190 out of the 293 QTLs (64.8%) for the nutrient uptake and utilization efficiency traits, indicating that the CUU-QTLs were common for N, P and K. The CUU-QTLs in L3, L7, L16 and L28 were relatively stable. The CUU-QTLs may explain the CUU phenotype at the QTL level.

Antioxidant and immunity activities of Fufang Kushen Injection Liquid.

We investigated the effects of Fufang Kushen Injection Liquid (FFKSIL) on gastric immunity and oxidant-antioxidant status during N-methyl-N'-nitro-N-nitroso-guanidine (MNNG)-induced gastric carcinogenesis. The extent of lipid peroxidation and the levels of reduced glutathione (GSH) and activities of the GSH-dependent enzymes superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GSH-Px) were used to monitor the peroxidative balance. Enhanced lipid peroxidation in the gastric cancer animals was accompanied by significant decreases in the activities of GSH, GPx, GST and GR. Administration of FFKSIL significantly enhanced serum IgA, IgG, IgM, IL-2, IL-4 and IL-10 levels, decreased serum IL-6 and TNF-α levels, lowered the levels of lipid peroxides and enhanced GSH levels and activities of GSH-dependent enzymes. Our results suggest that FFKSIL blocks experimental gastric carcinogenesis by protecting against carcinogen-induced oxidative damage and improving immunity activity.

Positive and negative photoion spectroscopy study of monochlorothiophenes.

Photolysis dynamics of monochlorothiophenes (2- and 3-chlorothiophenes) is investigated using positive and negative photoion mass spectrometry combined with the synchrotron vacuum ultraviolet radiation. A dozen of the daughter cations are observed in the time-of-flight mass spectra, and their appearance energies are determined by the photoion efficiency spectroscopy measurements. At the energetic threshold, the concerted process rather than a stepwise reaction for C(4)H(3)SCl(+) → C(2)HSCl(+) + C(2)H(2) and the ring-open isomers of the dehydrogenated thiophene cations (C(4)H(3)S(+) and C(4)H(2)S(+)) formed in C(4)H(3)SCl(+) → C(4)H(3)S(+) + Cl and C(4)H(2)S(+) + HCl are proposed on the basis of the B3LYP/6-311+G(3df,3pd) calculations. The chlorine anion (Cl(-)) is observed as the product of the photoion-pair dissociations in the energy range of 10.70-22.00 eV. A set of valence-to-Rydberg state transitions 12a' → np (n = 6, 7, 8, 9, 10, etc.) and several series of vibrational excitations are tentatively assigned in the Cl(-) spectrum of 2-chlorothiophene in the lower energy range of 10.90-12.00 eV.

Vacuum ultraviolet negative photoion spectroscopy of chloroform.

Negative ions Cl(-), Cl(2)(-), CCl(-), CHCl(-), and CCl(2)(-) are observed in vacuum-ultraviolet ion-pair photodissociations of chloroform (CCl(3)H) using the Hefei synchrotron radiation facility, and their ion production efficiency curves are recorded in the photon energy range of 10.00-21.50 eV. Two similar spectra of the isotope anions (35)Cl(-) and (37)Cl(-) indicate the following: Besides the strong bands corresponding to the electron transitions from valence to Rydberg orbitals converging to the ionic states, some additional peaks can be assigned with the energetically accessible multibody fragmentations; a distinct peak at photon energy 14.55 eV may be due to a cascade process (namely, the Cl(2) neutral fragment at the highly excited state D'2(3)Π(g) may be produced in the photodissociation of CCl(3)H, and then the Cl(-) anions are produced in the pulsed-field induced ion-pair dissociations of Cl(2) (D'2(3)Π(g))); two vibrational excitation progressions, nν(2)(+) and nν(2)(+) + ν(3)(+), and nν(4)(+) and nν(4)(+) + ν(2)(+), are observed around C̃ (2)E and D̃ (2)E ionic states, respectively. The enthalpies of the multibody fragmentations to Cl(2)(-), CCl(-), CHCl(-), and CCl(2)(-) are calculated with the thermochemistry data available in the literature, and these multibody ion-pair dissociation pathways are tentatively assigned in the respective anion production spectra.