Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy.

BACKGROUND: This study aims to evaluate the ability of laboratories to perform spinal muscular atrophy (SMA) genetic testing in newborns based on dried blood spot (DBS) samples, and to provide reference data and advance preparation for establishing the pilot external quality assessment (EQA) scheme for SMA genetic testing of newborns in China. METHODS: The pilot EQA scheme contents and evaluation principles of this project were designed by National Center for Clinical Laboratories (NCCL), National Health Commission. Two surveys were carried out in 2022, and 5 batches of blood spots were submitted to the participating laboratory each time. All participating laboratories conducted testing upon receiving samples, and test results were submitted to NCCL within the specified date. RESULTS: The return rates were 75.0% (21/28) and 95.2% (20/21) in the first and second surveys, respectively. The total return rate of the two examinations was 83.7% (41/49). Nineteen laboratories (19/21, 90.5%) had a full score passing on the first survey, while in the second survey twenty laboratories (20/20, 100%) scored full. CONCLUSIONS: This pilot EQA survey provides a preliminary understanding of the capability of SMA genetic testing for newborns across laboratories in China. A few laboratories had technical or operational problems in testing. It is, therefore, of importance to strengthen laboratory management and to improve testing capacity for the establishment of a national EQA scheme for newborn SMA genetic testing.

Cell death­related molecules and targets in the progression of urolithiasis (Review).

Urolithiasis is a high­incidence disease caused by calcium oxalate (mainly), uric acid, calcium phosphate, struvite, apatite, cystine and other stones. The development of kidney stones is closely related to renal tubule cell damage and crystal adhesion and aggregation. Cell death, comprising the core steps of cell damage, can be classified into various types (i.e., apoptosis, ferroptosis, necroptosis and pyroptosis). Different crystal types, concentrations, morphologies and sizes cause tubular cell damage via the regulation of different forms of cell death. Oxidative stress caused by high oxalate or crystal concentrations is considered to be a precursor to a variety of types of cell death. In addition, complex crosstalk exists among numerous signaling pathways and their key molecules in various types of cell death. Urolithiasis is considered a metabolic disorder, and tricarboxylic acid cycle­related molecules, such as citrate and succinate, are closely related to cell death and the inhibition of stone development. However, a literature review of the associations between kidney stone development, metabolism and various types of cell death is currently lacking, at least to the best of our knowledge. Thus, the present review summarizes the major advances in the understanding of regulated cell death and urolithiasis progression.

Characteristics and effects on daily lives of pelvic girdle pain during early postpartum in Beijing women, China.

Pelvic girdle pain (PGP) is a common problem during pregnancy and postpartum and negatively affects women's well-being. Yet it is not well known in China. This study assessed PGP's intensity, location, and quality and the status of daily activities on postpartum women with pain, and explored the relationship between pain and the prevalence of depressive symptoms. A cross-sectional study recruiting 1,038 eligible women at 6 weeks postpartum from the obstetric clinic of a hospital was conducted in Beijing, China. Data were collected using self-reported questionnaires, including Introductory information form, Body chart, Number Rating Scale, McGill Pain Questionnaire-2, Pelvic Girdle Questionnaire, and Edinburgh Postnatal Depression Scale. In this study, 32.2 percent women experienced pain. The mean (SD) pain intensity score was 3.07 ± 1.60. About 50.6 percent women experienced sacroiliac joint pain, and 25.5 percent women experienced pain in a combination of locations. About 73.1 percent women experienced aching pain, and 57.5 percent experienced more than one kind of pain quality. The mean total score, which assesses activity and symptom limitations, was 21.93 ± 17.35 (percent), of which a normal sex life (1.29 ± 0.94) was made more challenging due to pain. In mental health, the prevalence of depressive symptoms coincided with the prevalence of pain (p = 0.008). Postpartum PGP still needs to be taken seriously, and women with pain require further support. The above knowledge offers information to manage pain, daily lives and depressive symptoms, contributes to think about strategies to better promote postpartum women physical and mental health in the future.

SNHG1 knockdown promotes osteogenic differentiation of hDFSCs through anti-oxidative stress mediated by autophagy.

The long noncoding RNA (lncRNA) small nucleolar RNA host gene 1 (SNHG1) plays a crucial role in tumorigenesis and is frequently employed as a prognostic biomarker. However, its involvement in the osteogenic differentiation of oral stem cells, particularly human dental follicle stem cells (hDFSCs), remains unclear. Our investigation revealed that the absence of SNHG1 enhances the osteogenic differentiation of hDFSCs. Furthermore, the downregulation of SNHG1 induces autophagy in hDFSCs, leading to a reduction in intracellular oxidative stress levels. Notably, this effect is orchestrated through the epigenetic regulation of EZH2. Our study unveils a novel function of SNHG1 in governing the osteogenic differentiation of hDFSCs, offering fresh insights for an in-depth exploration of the molecular mechanisms underlying dental follicle development. These findings not only provide a foundation for advancing the understanding of SNHG1 but also present innovative perspectives for promoting the repair and regeneration of periodontal supporting tissue, ultimately contributing to the restoration of periodontal health and tooth function.

Multi-group symbiotic evolutionary mechanisms of a digital innovation ecosystem: Numerical simulation and case study.

In the digital innovation ecosystem, the symbiosis mode formed between ecosystem members not only relates to their survival and development but also affects the ecosystem's symbiosis evolution mechanism. Based on symbiosis theory, this study first explores the evolutionary equilibrium strategy and its stability for three types of populations-core enterprises, digital platforms, and university research institutes-and then uses numerical simulation and a case study to explore the symbiotic evolution mechanism of the digital innovation ecosystem. The results show that: First, the digital innovation ecosystem is a complex adaptive system in which the three types of populations form different symbiotic relationships under different symbiotic modes and conduct symbiotic activities, such as value co-creation, to characterize the unique symbiotic evolutionary structure. Second, in this ecosystem, the symbiotic relationship formed by the combined values of different symbiotic coefficients between populations determines the outcome of symbiotic evolution. Third, the ideal direction of the evolution of the digital innovation ecosystem is a mutually beneficial symbiotic relationship. Thus, the symbiotic relationship between populations should be transformed into a mutually beneficial symbiotic relationships as much as possible. This study makes theoretical contributions by shedding light on the symbiotic evolution mechanism of the digital innovation ecosystem. It also offers countermeasures for the digital innovation cooperation of various stakeholders in China's digital innovation ecosystem.

[Characteristics, Sources Apportionment, and Health Risks of PM2.5-bound PAHs and Their Derivatives Before and After Heating in Zibo City].

Atmospheric polycyclic aromatic hydrocarbons (PAHs) and their derivatives are a global problem that influences the environment and threatens human health. To investigate the characteristics, sources, and health risk assessment of PM2.5-bound PAHs and their derivatives, PM2.5 were collected at an urban site in Zibo from November 5 to December 26, 2020, and the concentrations of 16 conventional PAHs, nine NPAHs, and five OPAHs in PM2.5 were analyzed using gas chromatography-mass spectrometry. Source apportionment of PAHs and their derivatives was conducted using diagnostic ratios and a PMF model, and the health risks of PAHs and their derivatives to adult men and women were evaluated using the source-dependent incremental lifetime cancer risk (ILCR) model. The results showed that the average concentrations of ∑16pPAHs, ∑9NPAHs, and ∑5OPAHs in PM2.5 of Zibo City during the sampling period were (41.61 ± 13.40), (6.38 ± 5.70), and (53.20 ± 53.47) ng·m-3, respectively. The concentrations of the three PAHs increased significantly after heating, which were 1.31, 2.04, and 5.24 times larger than those before heating. During the sampling period, Chr, BaP, and BaA were the dominant components of pPAHs; 9N-Ant and 2N-Flt + 3N-Flt were the dominant components of NPAHs; and ATQ and BZO were the dominant components of OPAHs. Source apportionment results showed that motor vehicles were the main source of PAHs and their derivatives in PM2.5 before heating, whereas after heating, the main sources were the mixed source of coal and biomass combustion and secondary formation. The total BaP equivalent (TEQ) was 14.5 ng·m-3 during the sampling period, and the TEQ increased significantly after heating, which was approximately 1.2 times of that before heating. Assisted by the individual PAH source apportionment results, the ILCR of PM2.5-boundPAHs and NPAHs in Zibo City had a certain potential carcinogenic risk for adult males (1.06 × 10-5) and females (9.32 × 10-6). Among them, the health risks of PAHs from gasoline vehicles, diesel vehicles, and coal/biomass combustion were significantly higher than those from other emission sources.

Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China.

BACKGROUND: We aimed to evaluate the diagnostic capabilities of Chinese laboratories for inherited metabolic disorders (IMDs) using gas chromatography-mass spectrometry (GC-MS) on urine samples. Meanwhile, based on the result of the pilot external quality assessment (EQA) scheme, we hope to establish a standardized and reliable procedure for future EQA practice. METHODS: We recruited laboratories that participated in the EQA of quantitative analysis of urinary organic acids with GC-MS before joining the surveys. In each survey, a set of five real urine samples was distributed to each participant. The participants should analyze the sample by GC-MS and report the "analytical result", "the most likely diagnosis", and "recommendation for further tests" to the NCCL before the deadline. RESULTS: A total of 21 laboratories participated in the scheme. The pass rates were 94.4% in 2020 and 89.5% in 2021. For all eight IMDs tested, the analytical proficiency rates ranged from 84.7% - 100%, and the interpretational performance rate ranged from 88.2% - 97.0%. The performance on hyperphenylalaninemia (HPA), 3-methylcrotonyl-CoA carboxylase deficiency (MCCD), and ethylmalonic encephalopathy (EE) samples were not satisfactory. CONCLUSIONS: In general, the participants of this pilot EQA scheme are equipped with the basic capability for qualitative organic acid analysis and interpretation of the results. Limited by the small size of laboratories and samples involved, this activity could not fully reflect the state of clinical practice of Chinese laboratories. NCCL will improve the EQA scheme and implement more EQA activities in the future.

Unraveling ferroptosis in osteogenic lineages: implications for dysregulated bone remodeling during periodontitis progression.

Periodontitis is a highly prevalent disease characterized by inflammation and destruction of tooth-supporting tissues that leads to tooth loss in extreme situations. Elucidating the underlying mechanisms of periodontitis pathogenesis and progression will establish the groundwork for developing effective treatment strategies. Recently, evidence concerning the role of ferroptosis in periodontitis progression has emerged. Osteogenic lineage cells are key regulators of bone remodeling. Osteogenic cell death, as observed in experimental periodontitis models, disrupts the balance between bone resorption and bone formation. However, whether the osteogenic lineage undergoes ferroptosis during periodontitis and the corresponding effect on periodontitis progression remain elusive. Here, we investigated cell-specific ferroptosis within the alveolar bone in a murine periodontitis model. Through immunofluorescence double staining and immunohistochemistry, we identified ferroptotic osteocytes and osteoblasts in inflammatory alveolar bone. Next, in vivo administration of erastin or liproxstatin-1 was conducted to either induce or inhibit ferroptosis, respectively. Severe bone resorption and inflammation, accompanied by increased osteoclast formation and impaired osteogenic potential were detected following ferroptosis activation. Subsequently, we carried out in vitro experiments on osteocytes and further verified that ferroptosis enhanced the osteocytic expression of RANKL and IL-6. These findings suggest that ferroptosis occurring within the osteogenic lineage acts as a catalyst in the progression of periodontitis by stimulating osteoclastogenesis through the secretion of inflammatory cytokines and inhibiting osteoblastic function, providing insights into ferroptosis-induced alterations in microenvironment-based intercellular communication. Ferroptosis is a promising target for controlling inflammation and preventing bone resorption in periodontitis.

LAGSwin: Local attention guided Swin-transformer for thermal infrared sports object detection.

Compared with visible light images, thermal infrared images have poor resolution, low contrast, signal-to-noise ratio, blurred visual effects, and less information. Thermal infrared sports target detection methods relying on traditional convolutional networks capture the rich semantics in high-level features but blur the spatial details. The differences in physical information content and spatial distribution of high and low features are ignored, resulting in a mismatch between the region of interest and the target. To address these issues, we propose a local attention-guided Swin-transformer thermal infrared sports object detection method (LAGSwin) to encode sports objects' spatial transformation and orientation information. On the one hand, Swin-transformer guided by local attention is adopted to enrich the semantic knowledge of low-level features by embedding local focus from high-level features and generating high-quality anchors while increasing the embedding of contextual information. On the other hand, an active rotation filter is employed to encode orientation information, resulting in orientation-sensitive and invariant features to reduce the inconsistency between classification and localization regression. A bidirectional criss-cross fusion strategy is adopted in the feature fusion stage to enable better interaction and embedding features of different resolutions. At last, the evaluation and verification of multiple open-source sports target datasets prove that the proposed LAGSwin detection framework has good robustness and generalization ability.

Biochemical component analysis of human myopic corneal stroma using the Raman spectrum.

PURPOSE: This study aimed to measure the Raman spectrum of the human corneal stroma lens obtained from small incision lenticule extraction surgery (SMILE) in Asian myopic eyes using a confocal Raman micro-spectrometer built in the laboratory. METHODS: Forty-three myopic patients who underwent SMILE with equivalent diopters between - 4.00 and - 6.00 D were selected, and the right eye data were collected. Corneal stroma lenses were obtained during surgery, and the Raman spectra were measured after air drying. The complete Raman spectrum of human myopic corneal stroma lens tissue was obtained within the range of 700-4000 cm-1. RESULTS: Thirteen characteristic peaks were found, with the stronger peaks appearing at 937 cm-1, corresponding to proline, valine, and the protein skeleton of the human myopic corneal stroma lens; 1243 cm-1, corresponding to collagen protein; 1448 cm-1, corresponding to the collagen protein and phospholipids; and 2940 cm-1, corresponding to the amino acid and lipids, which was the strongest Raman peak. CONCLUSION: These results demonstrated that Raman spectroscopy has much potential as a fast, cost-effective, and reliable diagnostic tool in the diagnosis and treatment of eye diseases, including myopia, keratoconus, and corneal infection.

Causal association between mTOR-dependent circulating protein levels and central precocious puberty: a Mendelian randomization study.

Background: The mechanistic target of rapamycin (mTOR) signaling pathway has a significant effect on central precocious puberty (CPP). However, the causality between mTOR-dependent circulating protein levels and CPP is still unclear. Our aim is to assess the effects of seven mTOR-dependent circulating protein levels on CPP using Mendelian randomization (MR). Methods: Instrumental variables (IVs) for mTOR-dependent circulating protein levels were retrieved from the proteomics-GWAS INTERVAL study and eQTLGen. The summary-level genetic datasets for CPP outcome were obtained from the FinnGen Consortium. Inverse-variance weighted (IVW) was used as the primary method and the pleiotropy, heterogeneity and robustness of the analyses were detected as sensitivity analysis. Positive exposures in the discovery cohort would be revalidated in the validation cohort. Results: This two-sample MR study revealed a causal association between eIF4G level in plasma and CPP in both discovery cohort (IVW: OR = 0.45, 95% CI = 0.22-0.91, p = 0.026) and validation cohort (IVW: OR = 0.45, 95% CI = 0.24-0.85, p = 0.014). Conclusions: There was a causal association between eIF4G level in plasma and CPP. Whether eIF4G can be used for the prevention or treatment of CPP needs to be explored in further studies.

Anticyanobacterial effect of p-coumaric acid on Limnothrix sp. determined by proteomic and metabolomic analysis.

Regulating photosynthetic machinery is a powerful but challenging strategy for selectively inhibiting bloom-forming cyanobacteria, in which photosynthesis mainly occurs in thylakoids. P-coumaric acid (p-CA) has several biological properties, including free radical scavenging and antibacterial effects, and studies have shown that it can damage bacterial cell membranes, reduce chlorophyll a in cyanobacteria, and effectively inhibit algal growth at concentrations exceeding 0.127 g/L. Allelochemicals typically inhibit cyanobacteria by inhibiting photosynthesis; however, research on inhibiting harmful algae using phenolic acids has focused mainly on their inhibitory and toxic effects and metabolite levels, and the molecular mechanism by which p-CA inhibits photosynthesis remains unclear. Thus, we examined the effect of p-CA on the photosynthesis of Limnothrix sp. in detail. We found that p-CA inhibits algal growth and damages photosynthesis-related proteins in Limnothrix sp., reduces carotenoid and allophycocyanin levels, and diminishes the actual quantum yield of Photosystem II (PSII). Moreover, p-CA significantly altered algal cell membrane protein systems, and PSII loss resulting from p-CA exposure promoted reactive oxygen species production. It significantly altered algae cell membrane protein systems. Finally, p-CA was found to be environmentally nontoxic; 80 % of 48-h-old Daphnia magna larvae survived when exposed to 0.15 g/L p-CA. These findings provide insight into the mechanism of cyanobacterial inhibition by p-CA, providing a more practical approach to controlling harmful algal blooms.

Lumbar puncture increases Alzheimer's disease biomarker levels in cerebrospinal fluid of rhesus monkeys.

Cerebrospinal fluid (CSF) samples are commonly collected via lumbar puncture (LP) in both clinical and research settings for measurement of biomarkers of Alzheimer's disease (AD). To determine the effects of LP on CSF AD biomarkers, we collected CSF samples at seven different time points after an LP in rhesus monkeys. We find that amyloid-beta (Aß) and Tau levels increased significantly on day 1, peaked on day 3, and returned to baseline on day 10 after LP. The NFL levels increased significantly on day 5, peaked on day 10, and returned to baseline after day 30. The increased AD biomarker levels were mainly due to CSF outflow and deep intrathecal invasion during LP. Therefore, if LPs are repeated within a short period of time, prior LP can affect Aß and Tau levels within 10 days and NFL levels within 30 days, which may lead to clinical misdiagnosis or incorrect scientific conclusions.

The clinical value of intelligent wound measurement devices in patients with chronic wounds: A scoping review.

Chronic wounds are common in clinical practice, with long treatment cycle and high treatment cost. Changes in wound area can well predict the effectiveness of treatment and the possibility of healing. Therefore, continuous wound monitoring and evaluation are particularly important. Traditional manual wound measurement tends to overestimate wound area. Recently, various intelligent wound measurement devices have been introduced into clinical practice. This review aims to summarise the reliability, validity, types and measurement principles of different intelligent wound measurement devices, so as to analyse the clinical value and application prospect. Articles numbering 2610 were retrieved from the database, and 14 articles met the inclusion criteria. The results showed that the intelligent wound measurement devices included in the study reported good reliability and validity. Contact devices can lead to wound bed damage, wound deformation, patient pain, and is not convenient for electronic wound recording; partial contact devices can complete continuous monitoring and recording of wounds, but are not sensitive to wound depth measurement. Non-contact devices are more accurate in capturing wound images. In addition to wound measurement, they also have the function of wound assessment. In general, handheld and portable non-contact devices have great clinical value and promotion prospects.

A study of integrated pest management models with instantaneous and non-instantaneous impulse effects.

The occurrence of pests and diseases during agricultural production affects the quality and quantity of agricultural products. It is important to evaluate the impact of various factors on pests to achieve optimal results of integrated pest management (IPM) during its implementation. In this paper, we considered the transient and non-transient effects of chemical control on pests and the effects on natural enemies at different times, and developed a corresponding pest control model. Detailed studies and comparisons were conducted for spraying pesticides either more or less frequently as compared to strategies for releasing natural enemies. The threshold conditions for global asymptotic stabilization of the pest extinction period solution was obtained. Using two-parameter and sensitivity analysis techniques, the parameters affecting the variation of the threshold were discussed. By comparing these two pest control strategies, we found the existence of optimal application and release frequencies. Finally, in order to control pests below the economic threshold level, the state-dependent pest model was numerically investigated. The results show that the presence or absence of chemical control of pests can depend on the values taken for the parameters in the model. Based on this information, pest control experts can make decisions about the best spraying time and the best release rate.

Risk factors for post-cerebral infarction cognitive dysfunction in older adults: a retrospective study.

OBJECTIVE: Our research aims to elucidate the significance of type 2 diabetes (T2D) and provides an insight into a novel risk model for post-cerebral infarction cognitive dysfunction (PCICD). METHODS: Our study recruited inpatients hospitalized with cerebral infarction in Xijing hospital, who underwent cognitive assessment of Mini-Mental State Examination (MMSE) from January 2010 to December 2021. Cognitive status was dichotomized into normal cognition and cognitive impairment. Collected data referred to Demographic Features, Clinical Diseases, scale tests, fluid biomarkers involving inflammation, coagulation function, hepatorenal function, lipid and glycemic management. RESULTS: In our pooled dataset from 924 eligible patients, we included 353 in the final analysis (age range 65-91; 30.31% female). Multivariate logistic regression analysis was performed to show that Rural Areas (OR = 1.976, 95%CI = 1.111-3.515, P = 0.020), T2D (OR = 2.125, 95%CI = 1.267-3.563, P = 0.004), Direct Bilirubin (OR = 0.388, 95%CI = 0.196-0.769, P = 0.007), Severity of Dependence in terms of Barthel Index (OR = 1.708, 95%CI = 1.193-2.445, P = 0.003) that were independently associated with PCICD, constituting a model with optimal predictive efficiency. CONCLUSION: To the best of our knowledge, this study provides a practicable map of strategical predictors to robustly identify cognitive dysfunction at risk of post-cerebral infarction for clinicians in a broad sense. Of note, our findings support that the decline in serum direct bilirubin (DBil) concentration is linked to protecting cognitive function.

Isolation and antioxidant activity of peptides from Chinese hairy tofu.

Hairy tofu is a famous Chinese snack that is made from soybeans and rich in various nutrients. In order to further explore the antioxidant peptides of hairy tofu hydrolysates, seven proteases were used to hydrolyze hairy tofu. The results of in vitro radical scavenging activity showed that hairy tofu hydrolysates obtained by pancreatin exhibited the highest antioxidant activity. After Sephadex G-25 gel filtration and reversed-phase high-performance liquid chromatography (RP-HPLC), 97 peptides were identified in the most antioxidant fraction using liquid chromatography-mass spectrometry/mass spectrometry (LC-MS/MS). Among them, nine peptides were synthesized and their antioxidant activities were assessed using a H2 O2 -induced oxidative 293T cell model. Finally, four peptides (QCESHK, LAWNEGR, NLQGENEWDQK, and FTEMWR) at concentrations of < 50 µg/ml significantly decreased the malondialdehyde content compared with the model group, displaying in vivo antioxidant activity and low cytotoxicity. Overall, this research provided the choice of using hairy tofu peptides as antioxidant products in the pharmaceutical and food industries.

Genome-Wide Identification of R2R3-MYB Family Genes and Their Response to Stress in Dendrobium nobile.

BACKGROUND: R2R3-MYB genes comprise one of the largest and most important gene families in plants, and are involved in the regulation of plant growth and development as well as responses to abiotic stresses. However, the functions of R2R3-MYB genes in Dendrobium nobile remains largely unknown. METHODS: Here, a comprehensive genome-wide analysis of D. nobile R2R3-MYB genes was performed, in which phylogenic relationships, gene structures, motif composition, chromosomal locations, collinearity analysis, and cis-acting elements were investigated. Moreover, the expression patterns of selected DnMYB genes were analyzed in various tissues and under different abiotic stresses. RESULTS: In total, 125 DnMYB genes were identified in the D. nobile genome, and were subdivided into 26 groups based on phylogenetic analysis. Most genes in the same subgroup showed similar exon/intron structure and motif composition. All the DnMYB genes were mapped to 19 chromosomes with the co-linearity relationship. Reverse transcription-quantitative real-time PCR (RT-qPCR) results showed that 8 DnMYBs exhibited different expression patterns in different plant tissues, and were differentially expressed in response to abscisic acid, methyl jasmonate, low-temperature stress. CONCLUSIONS: This work contributes to a comprehensive understanding of the R2R3-MYB gene family in D. nobile, and provides candidate genes for future research on abiotic stress in this plant.

Study on the radiotherapy effect and serum neutral granulocyte lymphocyte ratio and inflammatory factor expression of nasopharyngeal carcinoma.

Purpose: To compare target area delineation schemes in intensity-modulated radiotherapy (IMRT) effect on patients with locally advanced nasopharyngeal carcinoma (NPC). Methods: A total of 88 NPC patients received IMRT and were assigned into control group (n = 44) and observation group (n = 44) based on MRI and CT imaging. In the control group, the treatment range was determined as the clinical target volume (CTV) as the gross tumor volume (GTV) + 5 mm. In the observation group, high-risk target areas CTVp1 was GTVp + 5 mm, lymphatic drainage area CTVn1 was GTVn + 5 mm, medium-risk CTVp2 was CTVp1 + 5 mm margin + the whole nasopharyngeal area, CTVn2 was CTVn1 + 5 mm. Radiotherapy treatment course was 6-8 weeks, four times a week. Results: The observation group had higher total effective rate, with fewer complications. Neutrophil lymphocyte ratio (NLR), interleukin (IL)-6, and tumor necrosis factor (TNF)-α levels were lower after radiotherapy in both groups compared to before radiotherapy, with the observation group demonstrating lower levels than the control group. The effective group exhibited lower serum NLR, IL-6, and TNF-α compared to the non-effective group. T stage, target location, serum NLR, IL-6, and TNF-α were risk factors for the effect of radiotherapy. Conclusions: Serum NLR, IL-6, and TNF-α have predictive significance for radiotherapy effect.

Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study.

OBJECTIVE: To prospectively evaluate the prognosis of fetuses diagnosed with micrognathia using prenatal ultrasound screening. METHODS: Between January 2019 and December 2022, a normal range of IFA to evaluate the facial profile in fetuses with micrognathia in a Chinese population between 11 and 20 gestational weeks was established, and the pregnancy outcomes of fetal micrognathia were described. The medical records of these pregnancies were collected, including family history, maternal demographics, sonographic findings, genetic testing results, and pregnancy outcomes. RESULTS: Ultrasound identified 25 patients with fetal micrognathia, with a mean IFA value of 43.6°. All cases of isolated fetal micrognathia in the initial scans were non-isolated in the following scans. A total of 78.9% (15/19) cases had a genetic cause confirmed, including 12 with chromosomal abnormalities and 3 with monogenic disorders. Monogenic disorders were all known causes of micrognathia, including two cases of campomelic dysplasia affected by SOX9 mutations and one case of mandibulofacial dysostosis with an EFTUD2 mutation. In the end, 19 cases were terminated, 1 live birth was diagnosed as Pierre Robin syndrome, and 5 cases were lost to follow-up. CONCLUSION: IFA is a useful indicator and three-dimensional ultrasound is a significant support technique for fetal micrognathia prenatal diagnosis. Repeat ultrasound monitoring and genetic testing are crucial, with CMA recommended and Whole exome sequencing performed when normal arrays are reported. Isolated fetal micrognathia may be an early manifestation of monogenic disorders.