Survival benefits of postoperative radiotherapy in patients with cT1 - 2N1M0 breast cancer after neoadjuvant chemotherapy: a SEER-based population study.

BACKGROUND: Whether patients with cT1 - 2N1M0 breast cancer can benefit from postoperative radiotherapy (RT) after receiving neoadjuvant chemotherapy (NAC) has been controversial. Therefore, the purpose of this study was to explore whether postoperative RT can benefit this group of patients in terms of survival. METHODS: We used Surveillance, Epidemiology, and End Results (SEER) data to conduct a retrospective review of women with cT1 - 2N1M0 breast cancer diagnosed between 20 and 80 years of age who received NAC between 2010 and 2015. Our study compared the impact of postoperative RT on overall survival (OS) and cancer-specific survival (CSS) in breast cancer patients using propensity score matching (PSM) and performed subgroup analysis. RESULTS: This study finally included 1092 cT1 - 2N1M0 breast cancer patients. Regardless of the patient's PSM status, postoperative RT was significantly associated with OS of cT1-2N1M0 breast cancer patients who received NAC. Specifically, the 10-year OS rate was 78.7% before PSM matching, compared with 71.1% in patients who did not receive postoperative RT, and the difference was more significant after PSM matching, which was 83.1% and 71.1% respectively. However, postoperative RT did not significantly benefit CSS in patients with cT1 - 2N1M0 breast cancer who received NAC. The 10-year CSS rate was 81.4% VS 76.2% (P = 0.085) before PSM matching and 85.8% VS 76.2%(P = 0.076) after matching. Due to the intersection of OS and CSS curves, this restricted mean survival time (RMST) method was chosen as a supplement. After 60 months, the OS difference in RMST between the postoperative RT group and the non-radiotherapy (noRT) group was 7.37 months (95%CI: 0.54-14.21; P = 0.034), and the CSS difference was 5.18 months (95%CI: -1.31-11.68; P = 0.118). Subgroup analysis found that in patients with right-sided breast cancer, postoperative RT improved the patient's OS (HR = 0.45, 95%CI: 0.21-0.95, P = 0.037) and CSS (HR = 0.42, 95%CI: 0.18-0.98, P = 0.045). CONCLUSIONS: Our results showed that additional postoperative RT improved the OS of cT1 - 2N1M0 breast cancer patients who received NAC, but failed to improve their CSS. It is worth noting that in the subgroup analysis of patients with right-sided breast cancer, we observed significant improvements in OS and CSS. And further prospective studies are still needed to verify the effect of postoperative RT in different subgroups.

Neoadjuvant chemotherapy may be the best neoadjuvant therapy modality for non-metastatic pancreatic cancer: a population based study.

Objective: Currently, there are no studies showing which neoadjuvant therapy modality can provide better prognosis for patients after pancreatic cancer surgery. This study explores the optimal neoadjuvant therapy model by comparing the survival differences between patients with non-metastatic pancreatic cancer (cT1-4N0-1M0) who received neoadjuvant chemotherapy (NACT) and neoadjuvant chemoradiotherapy (NARCT). Methods: We retrospectively analyzed the clinical data of 723 patients with cT1-4N0-1M0 pancreatic cancer who received neoadjuvant therapy before surgery from the Surveillance, Epidemiology, and End Results (SEER) database. After propensity score matching (PSM), we compared the effects of NACT and NARCT on overall survival (OS) and cancer-specific survival (CSS) in patients with non-metastatic pancreatic cancer, and then performed subgroup analyze. Finally, we used univariate and multivariate Cox regression analysis to explore potential risk factors for OS and CSS in patients with non-metastatic pancreatic cancer treated with preoperative neoadjuvant therapy. Result: Before PSM, mOS (30.0 months VS 26.0 months, P=0.122) and mCSS (30.0 months VS 26.0 months, P=0.117) were better in patients with non-metastatic pancreatic cancer treated with NACT compared with NARCT, but this was not statistically significant (P>0.05). After PSM, mOS (30.0 months VS 25.0 months, P=0.032) and mCSS (33.0 months VS 26.0 months, P=0.028) were better in patients with non-metastatic pancreatic cancer treated with NACT compared with NARCT, and this difference was statistically significant (P<0.05). Multivariate Cox regression analysis results showed that age, lymph node positivity, and NARCT were independent adverse prognostic factors for OS and CSS in patients with non-metastatic pancreatic cancer. Conclusion: The study results show that compared with NARCT, NACT is the best preoperative neoadjuvant therapy mode for patients with non-metastatic pancreatic cancer. This result still needs to be confirmed by more prospective randomized controlled trials.

Circulating miR-30e-3p induces disruption of neurite development in SH-SY5Y cells by targeting ABI1, a novel biomarker for schizophrenia.

Schizophrenia (SCZ) represents a set of enduring mental illnesses whose underlying etiology remains elusive, posing a significant challenge to public health. Previous studies have shown that the neurodevelopmental process involving small molecules such as miRNA and mRNA is one of the etiological hypotheses of SCZ. We identified and verified that miR-30e-3p and ABI1 can be used as biomarkers in peripheral blood transcriptome sequencing data of patients with SCZ, and confirmed the regulatory relationship between them. To further explore their involvement, we employed retinoic acid (RA)-treated SH-SY5Y differentiated cells as a model system. Our findings indicate that in RA-induced SH-SY5Y cells, ABI1 expression is up-regulated, while miR-30e-3p expression is down-regulated. Functionally, both miR-30e-3p down-regulation and ABI1 up-regulation promote apoptosis and inhibit the proliferation of SH-SY5Y cells. Subsequently, the immunofluorescence assay detected the expression location and abundance of the neuron-specific protein ß-tubulinIII. The expression levels of neuronal marker genes MAPT, TUBB3 and SYP were detected by RT-qPCR. We observed that these changes of miR-30e-3p and ABI1 inhibit the neurite growth of SH-SY5Y cells. Rescue experiments further support that ABI1 silencing can correct miR-30e-3p down-regulation-induced SH-SY5Y neurodevelopmental defects. Collectively, our results establish that miR-30e-3p's regulation of neurite development in SH-SY5Y cells is mediated through ABI1, highlighting a potential mechanism in SCZ pathogenesis.

Safety and efficacy of ultrasound-guided superior hypogastric plexus block combined with conscious sedation in ambulatory patients undergoing percutaneous microwave ablation of uterine myomas: Study protocol for a single-center, double-blinded, randomized controlled trial.

Background: Pain is a major challenge in performing ultrasound-guided percutaneous microwave ablation (PMWA) of uterine myomas. Inadequate analgesia by local anesthetics hinders the possibility of conducting PMWA of uterine myomas in the Ambulatory Surgery Center (ASC) of the Department of Ultrasound. Objective: The superior hypogastric plexus (SHP) forms a suitable target for pain relief through the blockade, as it contains nociceptive afferent fibers from pelvic organs such as the uterus, rectum, and bladder. Superior hypogastric plexus block (SHPB) has demonstrated promise as an alternative treatment option for alleviating pelvic pain, reducing opioid consumption, and improving quality of life. This study aims to evaluate the efficacy of ultrasound-guided SHPB combined with conscious sedation as an alternative anesthesia option for ambulatory patients receiving ultrasound-guided PMWA of uterine myomas. Methods and analysis: This randomized controlled trial (RCT) will be carried out at the Department of Ultrasound, The First Affiliated Hospital of Xiamen University. Women scheduled for ultrasound-guided PMWA of uterine myomas will be eligible. 86 patients will be recruited and randomly assigned to either the intervention or control groups in a 1:1 ratio. The intervention group will undergo ultrasound-guided superior hypogastric plexus block (SHPB) combined with conscious sedation, while the control group will receive local anesthesia combined with conscious sedation. The primary outcome is the success rate of anesthesia, secondary outcomes include vasoactive drug consumption, acetaminophen consumption, sleep quality, sonographer satisfaction score, patient satisfaction score, the detained time in hospital, and adverse events. Discussions: This RCT represents the inaugural effort to specifically evaluate the safety and efficacy of ultrasound-guided SHPB combined with conscious sedation in patients undergoing ultrasound-guided PMWA of uterine myomas and will provide valuable evidence and insight into the analgesic management of this ambulatory surgery. Ethics and dissemination: This study has been approved by the Ethics Committee of the First Affiliated Hospital of Xiamen University (Scientific Research Ethics Review 2023, No. 139). The results will be submitted for publication in peer-reviewed journals.

The causal effects of genetically predicted alcohol consumption on endometrial cancer risk from a Mendelian randomization study.

Endometrial cancer (EC) is a common gynecological tumor in females with an increasing incidence over the past few decades. Alcohol consumption has been linked to the occurrence of various cancers; However, epidemiological studies have shown inconsistent associations between alcohol consumption and EC risk. In order to avoid the influence of potential confounding factors and reverse causality in traditional epidemiological studies, we used a method based on genetic principles-Mendelian randomization (MR) analysis to test whether there is a causal relationship between alcohol consumption and EC. MR analysis was conducted using publicly available summary-level data from genome-wide association studies (GWAS). Fifty-seven single nucleotide polymorphisms (SNPs) were extracted as instrumental variables for alcohol exposure from the GWAS and Sequencing Consortium of Alcohol and Nicotine GWAS summary data involving 941,287 participants of European ancestry. SNPs for EC were obtained from the Endometrial Cancer Association Consortium, the Endometrial Cancer Epidemiology Consortium, and the UK Biobank, involving 121,885 European participants. The inverse variance weighted (IVW) method was used as the primary method to estimate the causal effect, and the MR-Egger regression and weighted median method were used as supplementary methods. Sensitivity analyses were conducted using the Mendelian Randomization Pleiotropy RESidual Sum and Outlier global test, MR-Egger intercept test, and leave-one-out analysis to evaluate the impact of pleiotropy on causal estimates. An increase of 1 standard deviation of genetically predicted log-transformed alcoholic drinks per day was associated with a 43% reduction in EC risk [odds ratio (OR) = 0.57, 95% confidence interval (CI) 0.41-0.79, P < 0.001]. Subgroup analysis of EC revealed that alcohol consumption was a protective factor for endometrioid endometrial cancer (EEC) (OR = 0.56, 95% CI 0.38-0.83, P = 0.004) but not for non-endometrioid endometrial cancer (NEC) (OR = 1.36, 95% CI 0.40-4.66, P = 0.626). The MR-Egger regression and weighted median method yielded consistent causal effects with the IVW method. The consistent results of sensitivity analyses indicated the reliability of our causal estimates. Additionally, alcohol consumption was associated with decreased human chorionic gonadotropin (HCG) and insulin-like growth factor 1 (IGF1) levels. This MR study suggests that genetically predicted alcohol consumption is a protective factor for EC, particularly for EEC, and this protective effect may be mediated through the reduction of HCG and IGF1.

Bioinspired FeN5 Sites with Enhanced Peroxidase-like Activity Enable Colorimetric Sensing of Uranyl Ions in Seawater.

Nanozymes with peroxidase (POD)-like activity have garnered significant attention due to their exceptional performance in colorimetric assays. However, nanozymes often possess oxidase (OD) and POD-like activity simultaneously, which affects the accuracy and sensitivity of the detection results. To address this issue, inspired by the catalytic pocket of natural POD, a single-atom nanozyme with FeN5 configuration is designed, exhibiting enhanced POD-like activity in comparison with a single-atom nanozyme with FeN4 configuration. The axial N atom in FeN5 highly mimics the amino acid residues in natural POD to optimize the electronic structure of the metal active center Fe, realizing the efficient activation of H2O2. In addition, in the presence of both H2O2 and O2, FeN5 enhances the activation of H2O2, effectively avoiding the interference of dissolved oxygen in colorimetric sensing. As a proof-of-concept application, a colorimetric detection platform for uranyl ions (UO22+) in seawater is successfully constructed, demonstrating satisfactory sensitivity and specificity.

Peripheral Blood Non-Coding RNA as Biomarker for Schizophrenia: A Review.

Schizophrenia (SCZ) is a complex and heterogeneous neuropsychiatric disorder that lacks objective diagnostic indicators and the pathogenesis remain unclear. Genetic factors may exert a significant impact on the development of the condition. While obtaining brain tissue for biopsy in the course of adjuvant diagnosis of SCZ patients may not be possible, the collection of peripheral blood is more accessible and easier to implement. In recent years, the development and application of RNA sequencing technology has made seeking biomarkers of SCZ becomes more feasible. There is emerging evidence suggesting that certain non-coding RNAs (ncRNA) are distinctly different in the peripheral blood of SCZ patients and healthy controls. Although the mechanisms remain unclear, these aberrantly expressed ncRNAs may be intimately associated with the onset and development of SCZ and may be of great significance for the diagnosis and treatment of SCZ. Therefore, we reviewed the expression of distinct types of ncRNAs that have been found in the peripheral blood of SCZ patients and explored their potential application as diagnostic biomarkers of SCZ. Differentially expressed ncRNAs in the peripheral blood of SCZ patients could not only serve as potential diagnostic biomarkers and therapeutic targets for SCZ but may also have implications for advancing understanding of the molecular mechanisms underlying the development of SCZ and elucidating the complex etiology of SCZ. Early diagnostic biomarkers obtained directly from peripheral blood are of great significance for the timely diagnosis and treatment of SCZ. Our review will enhance the comprehension of molecular mechanisms of SCZ and contribute to the identification of promising ncRNAs in peripheral blood for both diagnosis and therapy of SCZ.

Habitual salt preference worsens blood pressure in hospitalized hypertensive patients with omicron infection under epidemic-related stress.

BACKGROUND: We investigated the synergistic effect of stress and habitual salt preference (SP) on blood pressure (BP) in the hospitalized Omicron-infected patients. METHODS: From 15,185 hospitalized Omicron-infected patients who reported having high BP or hypertension, we recruited 662 patients. All patients completed an electronic questionnaire on diet and stress, and were required to complete morning BP monitoring at least three times. RESULTS: The hypertensive group (n = 309) had higher habitual SP (P = 0.015) and COVID-19 related stress (P < 0.001), and had longer hospital stays (7.4 ± 1.5 days vs. 7.2 ± 0.5 days, P = 0.019) compared with controls (n = 353). After adjusting for a wide range of covariates including Omicron epidemic-related stress, habitual SP was found to increase both systolic (4.9 [95% confidence interval (CI), 2.3-7.4] mmHg, P < 0.001) and diastolic (2.1 [95%CI, 0.6-3.6] mmHg, P = 0.006) BP in hypertensive patients, and increase diastolic BP (2.0 [95%CI, 0.2-3.7] mmHg, P = 0.026) in the control group. 31 (8.8%) patients without a history of hypertension were discovered to have elevated BP during hospitalization, and stress was shown to be different in those patients (P < 0.001). In contrast, habitual SP was more common in hypertensive patients with uncontrolled BP, compared with patients with controlled BP (P = 0.002). CONCLUSIONS: Habitual SP and psychosocial stress were associated with higher BP in Omicron-infected patients both with and without hypertension. Nonpharmaceutical intervention including dietary guidance and psychiatric therapy are crucial for BP control during the long COVID-19 period.

Study of height, sitting height, lower extremity length, and the prevalence of short stature among elementary school students in the Tianyuan District of Zhuzhou City.

In this study, the height, sitting height, lower extremity length, growth status, and body proportions of elementary school students aged 6 to 12 years in Tianyuan District of Zhuzhou City, China, were analyzed. A total of 41,156 children from 38 elementary schools in the Tianyuan District of Zhuzhou City were selected for height measurement, employing the cluster sampling method. After the cluster data were obtained, the height and sitting height information were extracted, and calculations were performed for lower extremity length, sitting height-to-lower extremity length ratio, and sitting height-to-height ratio. Statistical analysis was conducted using SPSS 23.0 software. The height and sitting height measurements of boys and girls aged 6 to 12 years in Tianyuan District surpassed the 2005 national standard set for 9 cities, while the lower extremities of children within the 7 to 9 age range fell below the national standard. In alignment with the national average, the fitted curve representing height for both boys and girls aged 6 to 12 years in Tianyuan District exhibited an intersection point around 10 to 10.5 years. No discernible distinction was observed in the incidence of short stature, as analyzed through the P3 standard, between the fitted curve for Tianyuan District and the national standard. Moreover, tall children exhibited a significantly lower sitting height-to-height ratio compared to their shorter counterparts. The fitted height curve in Tianyuan District, Zhuzhou City, proves effective in discerning shorter-statured children within the region. Nevertheless, further research is warranted to elucidate the factors contributing to the comparatively shorter lower extremities observed in children from Tianyuan District, Zhuzhou City, in contrast to the national average.

High transparency, water vapor barrier and antibacterial properties of chitosan/carboxymethyl glucan/poly(vinyl alcohol)/nanoparticles encapsulating citral composite film for fruit packaging.

Utilizing antibacterial packaging material is an effective approach to delay fruit rotting and spoilage thereby minimizing financial losses and reducing health harm. However, the barrier and mechanical properties of biodegradable antibacterial packaging materials are barely compatible with transparency. Herein, antimicrobial nanoparticles encapsulating citral (ANPs) were first prepared by emulsification under the stabilization of oxidized dextran (ODE) and ethylene diamine. Then, composite films with high transparency, good water vapor barrier, and mechanical and antibacterial properties for fruits packaging were prepared from chitosan (CS), carboxymethyl-glucan (CMG), poly(vinyl alcohol) (PVA), and ANPs by solvent casting strategy. The synergistic effects of electrostatic interaction and hydrogen bonding could regulate crystalline architecture, generating high transparency of the composite films (90 %). The mechanical properties of the composite film are improved with elongation at break up to 167 % and stress up to 32 MPa. The water vapor barrier property of the film is appropriate to the packed fruit for less weight loss and firmness remaining. Simultaneously, the addition of ANPs endowed the film with excellent antimicrobial and UV-barrier capabilities to reduce fruit mildew, thereby extending the shelf life of fruits. More importantly, the composite polymer solution could be sprayed or dipped directly on fruits as a coating for food storage to improve food shelf life, substantially expanding its ease of use and scope of use.

Safety and efficacy of remimazolam tosilate combined with low-dose fentanyl for procedural sedation in obese patients undergoing gastroscopy: study protocol for a single-centre, double-blind, randomised controlled trial.

INTRODUCTION: Obese patients are susceptible to hypoxaemia during procedural sedation. Propofol combined with low-dose opioids is commonly used as a sedation strategy, but it can exacerbate hypoxaemia by causing cardiopulmonary depression and airway obstruction, especially in obese patients. Remimazolam, a novel ultra-short-acting benzodiazepine, has minimal accumulative effects and less cardiorespiratory depression. This study aims to evaluate the safety and efficacy of combining remimazolam tosilate with low-dose fentanyl as an alternative option for procedural sedation in obese patients undergoing gastroscopy. METHODS AND ANALYSIS: This randomised controlled trial (RCT) will be conducted in the Endoscopy Centre of the First Affiliated Hospital of Xiamen University, recruiting 174 participants scheduled for painless gastroscopy with a body mass index of 30-39.9 kg×m-2. All patients will be randomly divided into two groups in a 1:1 ratio. The sedation strategy of the intervention group is remimazolam tosilate combined with fentanyl, while the control group is propofol combined with fentanyl. The primary outcome is the incidence of hypoxaemia and the secondary outcomes include the time to ambulation, need for airway manoeuvres and rescue sedation, sleep quality, the incidence of sedation failure, adverse events and the cost of sedatives. All statistical tests will be performed using IBM SPSS V.20.0 statistical software. A p value<0.05 is considered statistically significant. ETHICS AND DISSEMINATION: This RCT was reviewed and approved by the Ethics Committee of the First Affiliated Hospital of Xiamen University (Scientific Research Ethics Review 2022, No.093). The results will be published in peer-reviewed journals. TRIAL REGISTRATION NUMBER: ChiCTR2200067076.

A Case of Floating-Harbor Syndrome with "Growth and Language Development Delay" as Its Clinical Manifestation.

Background: Floating-Harbor syndrome (FHS) is a rare autosomal dominant inherited disease characterized primarily by short stature, delayed language development, and typical facial features. There are currently few case reports, diagnoses and treatments for these syndromes at home and abroad. Case Description: This study reports a case of a boy with "growth and language development delay" as the predominant clinical manifestation. FHS was clinically diagnosed based on his growth hormone (GH) deficiency, significant bone age delay, left testicular hydrocele, and the whole exon gene in peripheral blood, which indicated heterozygous mutation of SRCAP gene. Following the treatment with recombinant human GH (rhGH), the child exhibited height increase benefits, and his articulation improved after language therapy. Conclusion: Genetic testing facilitates early detection, diagnosis, and treatment of the FHS. Additionally, treatment with rhGH effectively increases the height of these children, and language rehabilitation is especially important for their language development.

Effect of inspiratory muscle training on hypoxemia in obese patients undergoing painless gastroscopy: protocol for a single-center, double-blind, randomized controlled trial.

Introduction: Obese patients who undergo painless gastroscopy are particularly prone to suffer from upper airway obstruction, respiratory depression, and subsequent hypoxemia. Despite adequate preoxygenation, the incidence of hypoxemia remains high. Recently, inspiratory muscle training (IMT) has been considered to be a promising strategy to increase respiratory muscle strength and endurance with the attendant improvement of pulmonary function. However, it remains unclear whether IMT is associated with a lower rate of hypoxemia in obese patients during this sedative procedure. This study aims to investigate the effectiveness of IMT used in obese patients who are scheduled for selective painless gastroscopy. Methods and analysis: This prospective, randomized controlled trial (RCT) will enroll 232 obese patients with a body mass index (BMI) of 35-39.9 kg·m-2 who undergo painless gastroscopy at the First Affiliated Hospital of Xiamen University. Subjects will be randomly assigned to two groups with a 1:1 ratio. Participants in both groups will receive IMT for 4 weeks prior to gastroscopy. The intervention group will receive IMT with a load of 30% of the maximal inspiratory pressure (Pi(max)) in the first week, with an increase of 10% per week since the following week, while the counterparts in the control group will not receive any load during the 4-week IMT. The primary outcome is the incidence of hypoxemia during painless gastroscopy. Secondary outcomes include the need for airway maneuvers, blood pressure changes, sleep quality assessment, pro-inflammatory cytokines levels, and monitoring of adverse events. Discussions: The outcomes of this study will offer invaluable guidance for the clinical implementation of IMT as a potential non-invasive preventive measure. Additionally, it stands to enrich our comprehension of anesthesia management and airway-related challenges in obese patients undergoing procedural sedation, which we anticipate will further contribute to addressing the turnaround concerns within high-volume, swiftly paced ambulatory endoscopy centers. Ethics and dissemination: This study has been approved by the Ethics Committee of the First Affiliated Hospital of Xiamen University (2022, No.091). The results will be submitted for publication in peer-reviewed journals. Trial registration number: China Clinical Trial Center (ChiCTR2200067041).

3D porous ß-cyclodextrin grafted graphene oxide/sodium alginate superhydrophilic natural polysaccharide-based aerogel for solar steam generation.

Solar steam generation (SSG) emerges as a paramount technology for efficient and sustainable desalination and wastewater purification. The innovative development of porous aerogel materials for solar steam generation heralds a new era in photothermal materials. In this study, a category of ß-cyclodextrin-grafted graphene oxide/sodium anionic polysaccharide alginate composite aerogels (named GO-CD/SA) with solar steam generation behavior and wastewater purification properties is developed. GO-CD/SA demonstrates remarkable properties, including an impressive solar absorption efficiency of approximately 97.4 %, a low thermal conductivity of just 0.124 W m-1 K-1 in a wetted state, and exceptional superhydrophilicity. These attributes collectively contribute to GO-CD/SA achieving an evaporation rate of 1.79 kg m-2 h-1 when utilized with pure water. Furthermore, GO-CD/SA features an abundant three-dimensional porous structure (88.07 % porosity) and superhydrophilic properties that promote the rapid reflux of salt solution between the pore channels. This, in turn, enables excellent salt resistance, with no noticeable salt crystals precipitating during continuous evaporation in 20 % high concentration brine for 6 h. GO-CD/SA also demonstrates outstanding purification capabilities for organic dye wastewater and heavy metal ion wastewater. Therefore, this work combines the advantages of salt tolerance and wastewater treatment, paving the way for the exploration of natural polysaccharide-based photothermal materials.

A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant.

Craniofacial dysmorphism, cardiac abnormalities, ectodermal abnormalities, psychomotor delay, intellectual disability, and short stature are all hallmarks of the extremely rare disorder known as cardiofaciocutaneous syndrome (CFCS). Although CFCS is considered rare, approximately 300 cases have been documented in the literature. In this report, we discuss a patient diagnosed with CFCS without the typical heart malformations but with craniofacial features, skin abnormalities, intellectual disability, and short stature. Genetic testing revealed the presence of three potentially harmful variants: one in the MAP2K1 gene and two in the ATP2B3 and CDC42BPB genes, the significance of which is currently not yet found. Our findings in this case report suggest that the clinical symptoms of CFCS may be atypical, thereby expanding our understanding of the symptom spectrum of the disease. Simultaneously, the link between the clinical symptoms of the patient and the two unknown pathogenic variants has not been established. This case report supplements existing clinical reference material by providing valuable insights into the specific scenario.

Application of Human Stem Cell Derived Retinal Organoids in the Exploration of the Mechanisms of Early Retinal Development.

The intricate neural circuit of retina extracts salient features of the natural world and forms bioelectric impulse as the origin of vision. The early development of retina is a highly complex and coordinated process in morphogenesis and neurogenesis. Increasing evidence indicates that stem cells derived human retinal organoids (hROs) in vitro faithfully recapitulates the embryonic developmental process of human retina no matter in the transcriptome, cellular biology and histomorphology. The emergence of hROs greatly deepens on the understanding of early development of human retina. Here, we reviewed the events of early retinal development both in animal embryos and hROs studies, which mainly comprises the formation of optic vesicle and optic cup shape, differentiation of retinal ganglion cells (RGCs), photoreceptor cells (PRs) and its supportive retinal pigment epithelium cells (RPE). We also discussed the classic and frontier molecular pathways up to date to decipher the underlying mechanisms of early development of human retina and hROs. Finally, we summarized the application prospect, challenges and cutting-edge techniques of hROs for uncovering the principles and mechanisms of retinal development and related developmental disorder. hROs is a priori selection for studying human retinal development and function and may be a fundamental tool for unlocking the unknown insight into retinal development and disease.

Case Report: A Novel Homozygous Mutation of Cyclin O Gene Mutation in Primary Ciliary Dyskinesia with Short Stature.

Background: Primary ciliary dyskinesia (PCD) is a group of autosomal recessive genetic diseases caused by abnormal ciliary ultrastructure and/or function, resulting in reduced ciliary clearance function or other dysfunctions. PCD is one of the causes of recurrent respiratory tract infections in children. At present, there is no gold standard for diagnosis. In patients clinically suspected with PCD, a variety of examination methods are available to assist in diagnosis, such as high-speed video microscopic imaging to analyze ciliary movement patterns, transmission electron microscopy to observe ciliary ultrastructure, genetic testing, and detection of nitric oxide content in nasal expiratory air. Case Description: We present a case summary of the clinical data and treatment process of a child with PCD and short stature induced by Novel exon 1 of CCNO mutation (NM-021147.5) at c.323del, and the proband father and mother were heterozygous mutators, who was diagnosed and treated in the Pediatric Healthcare Department of our hospital. We treated the child with recombinant human growth hormone to increase the height, and the patient was also advised to improve nutrition, prevent and control infections, and encouraged sputum expectoration. We also recommended regular follow-up visits to the outpatient department, and to seek other symptomatic and supportive treatments as necessary. Conclusion: The height and nutritional status of the child improved after treatment. We also reviewed relevant literature to help clinicians improve their understanding of this disease.

Increased thoracic fluid content is associated with higher risk for pneumonia in patients undergoing maintenance hemodialysis.

BACKGROUND: Pneumonia is the most common infectious disease in patients undergoing maintenance hemodialysis (MHD). The aim of this study is to determine the possible predictive value of thoracic fluid content (TFC) for pneumonia in this population. METHOD: Clinical data were recorded for 1412 MHD patients who were hospitalized for certain comorbidities or complications. Each patient underwent an impedance cardiography (ICG) examination before next dialysis session after admission. Patients were divided into Having-, Will-have-, and Non-pneumonia groups based on whether they had pneumonia at the time of ICG examination after the admission and within five months after the examination. Hemodynamic parameters and other clinical data were compared and analyzed. RESULTS: Patients who were going to develop pneumonia were older, and had a higher proportion of diabetes, poorer nutritional status, a higher level of inflammatory, poorer cardiac function, and more fluid volume load than those who did not develop pneumonia. Multivariate binary logistic analysis revealed that for each 1/KΩ increase in TFC and 1 increase in neutrophil-to-lymphocyte ratio (NLR), the risk of the development of pneumonia increased by 3.1% (p ˂ 0.01) and 7.2% (p = 0.035), respectively, whereas for each 1 g/L increase in hemoglobin and 1 g/L increase in serum albumin, the risk of the development of pneumonia decreased by 1.3% (p = 0.034) and 5% (p = 0.048), respectively. CONCLUSIONS: TFC, NLR, hemoglobin, and serum albumin were independent risk factors for the development of pneumonia in MHD patients. Given the advantages of ICG, TFC can be used clinically as a helpful predictor of pneumonia in MHD patients.

Identification of calcium metabolism related score associated with the poor outcome in papillary thyroid carcinoma.

Introduction: Papillary thyroid carcinoma is a type of thyroid cancer that exhibits significant variability in prognosis. Extensive research indicates that the impaired signaling of 1,25(OH)2D3-VDR may be a crucial factor in the development and progression of PTC. Methods: To investigate this further, Integrated analysis mRNA expression information from The Cancer Genome Atlas and GEO, we compared gene expression in cancer and normal tissues and identified differentially expressed genes (DEGs). Through this analysis, we identified DEGs and calculated risk estimates for seven genetic markers. Results: Subsequently, we constructed predictive models using LASSO-Cox regression to test the predictive value of these markers. Our results revealed that 64 calcium metabolism-related genes showed significant differences between tumor and normal tissues. Ten of the identified DEGs were significantly associated with overall survival, indicating their potential role in disease progression. Using the average risk score for the seven genetic markers, we divided patients into high- and low-risk groups. We found that patients in the low-risk group had significantly better overall survival than those in the high-risk group, highlighting the importance of these genetic markers in predicting prognosis. Further analysis using Cox regression demonstrated that the risk levels had independent predictive power. Additionally, we conducted functional analysis of the identified genetic markers, which showed significant differences in immune status between the two patient groups. We also investigated the effect of these calcium metabolism-related genes on thyroid cancer biological functions, immune microenvironment, and drug resistance. Discussion: Our findings provide evidence of a novel genetic signature associated with calcium metabolism, which can predict prognosis in patients with PTC. These results may have significant implications for the development of new diagnostic and therapeutic approaches to improve outcomes for PTC patients.

Shear wave elastography of the diaphragm in acute exacerbation of chronic obstructive pulmonary disease: A prospective observational study.

Patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD) are prone to diaphragmatic dysfunction. However, dynamic assessment of diaphragmatic function is complex and difficult, and whether the assessment of diaphragmatic function can reflect clinical indicators such as lung function in AECOPD patients remains unclear. We studied diaphragm stiffness and diaphragm stiffening rate (DSR) in AECOPD patients with acute exacerbations ≥ 2 times within 1 year and their correlation with clinical data, the diaphragmatic thickening fraction (DTF), lung function, and blood gas values. In total, 112 AECOPD patients in group C and Group D who had acute exacerbations ≥ 2 times within 1 year in the Global Initiative for Chronic Obstructive Lung Disease Guideline A (low risk, few symptoms), B (low risk, many symptoms), C (High risk, few symptoms), D (High risk, many symptoms) grouping system were included in the study. Their general clinical data, chronic obstructive pulmonary disease assessment test (CAT), modified medical research council (mMRC), number of acute exacerbations in 1 year, DTF, lung function, and blood gas analysis were collected. The diaphragm shear wave elasticity at functional residual capacity (DsweFRC) and DSR were measured by ultrasound. The DsweFRC and DSR of Group D were higher than those of Group C (P < .05). DsweFRC, DSR were negatively correlated with DTF, forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC) and FEV1/FVC (r ranged from -0.293 to -0.697, all P < .05), and positively correlated with CAT score, mMRC score, and arterial carbon dioxide pressure (r ranged from 0.274 to 0.462, all P < .05) in both groups; the correlation coefficients of DsweFRC, DSR and DTF, FEV1/FVC in group D were greater than those in group C. There was no correlation between DsweFRC, DSR and arterial oxygen partial pressure in both groups (P > .05). The DsweFRC, DSR increased with the number of acute exacerbations per year in both groups. We found that diaphragmatic stiffness in AECOPD patients increased with the number of acute exacerbations within 1 year, correlated with DTF, CAT, mMRC, lung function, and arterial carbon dioxide pressure and provides a simple and practical method for dynamically assessing diaphragmatic function and disease severity in AECOPD patients.