Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare multi-system disease that presents significant diagnostic challenges due to its complexity and low incidence (White and Dubey, 2023). It affects males and females equally, though males may exhibit more active disease at diagnosis and often require more aggressive treatment (Liu et al., 2023). The hallmark features of EGPA include delayed-onset asthma, eosinophilia in tissues and blood, and vasculitis affecting small to medium-sized arteries (White and Dubey, 2023). EGPA falls under the category of antineutrophil cytoplasmic antibody (ANCA)‍-associated vasculitis (AAV), whereas only about half of EGPA patients test positive for ANCA (Khoury et al., 2023).
Humans ; Male ; Hemorrhage/etiology* ; Granulomatosis with Polyangiitis/complications* ; Heart Arrest/etiology* ; Early Diagnosis ; Eosinophilia/diagnosis* ; Kidney Diseases/etiology* ; Churg-Strauss Syndrome/complications* ; Middle Aged

Although cisplatin is a widely used chemotherapeutic agent, it is severely toxic and causes irreversible hearing loss, restricting its application in clinical settings. This study aimed to determine the molecular mechanism underlying cisplatin-induced ototoxicity. Here, we established in vitro and in vivo ototoxicity models of cisplatin-induced hair cell loss, and our results showed that reducing STING levels decreased inflammatory factor expression and hair cell death. In addition, we found that cisplatin-induced mitochondrial dysfunction was accompanied by cytosolic DNA, which may act as a critical linker between the cyclic GMP-AMP synthesis-stimulator of interferon genes (cGAS-STING) pathway and the pathogenesis of cisplatin-induced hearing loss. H-151, a specific inhibitor of STING, reduced hair cell damage and ameliorated the hearing loss caused by cisplatin in vivo. This study underscores the role of cGAS-STING in cisplatin ototoxicity and presents H-151 as a promising therapeutic for hearing loss.
Cisplatin/toxicity* ; Animals ; Nucleotidyltransferases/antagonists & inhibitors* ; Membrane Proteins/antagonists & inhibitors* ; Signal Transduction/drug effects* ; Mice ; Hair Cells, Auditory, Inner/pathology* ; Antineoplastic Agents/toxicity* ; Mice, Inbred C57BL ; Hearing Loss/metabolism* ; Male ; Ototoxicity/metabolism*

Nowadays,both international and domestic scientific and technological innovation activities are facing different types and degrees of ethical risks,which bring many negative impacts to human society and even threaten the safety of individuals'lives and properties.To further standardize the ethics review of science and technology,strengthen risk prevention and control,and promote responsible innovation,ten ministries and commissions jointly issued the Measures for Scientific and Technological Ethics Review(for Trial Implementation)in September 2023.The Measures for Scientific and Technological Ethics Review(for Trial Implementation)required that ethical review should be implemented for science and technology innovation activities in many fields,ethical review should be more practicable.It strengthened emergency management of major public emergencies,proposed that research institutions should establish risk assessment methods,new unorganized personnel can apply for entrusted ethical review,and an ethics committee certification system should be established.The Measures for Scientific and Technological Ethics Review(for Trial Implementation)had outstanding highlights and distinctive features,clarified the responsible parties for scientific and technological innovation activities,strengthened their responsibilities and management of ethical review,introduced a management system for the list of scientific and technological activities,and created an expert review model for addressing the challenges of greater ethical risks.The interpretation and implementation reflection on the Measures for Scientific and Technological Ethics Review(for Trial Implementation)can provide a reference for the implementation of it,with a view to promoting the ethical review of science and technology as a normative force,as well as facilitating the upward and positive development of scientific and technological innovation activities for the benefit of humanity.

Hormonal receptor positive human epidermal receptor 2 negative (HR⁺/HER2^-) is the commonest molecular subtype of breast cancer (BC). Patients with HR⁺/HER2^- BC may manifest clinically a late recurrence whose BC metastasizes 10-15 years post-operatively. We report one case who presented with pulmonary mass in upper lobe of lung and Horner syndrome 16 years after BC surgery. FDG PET/CT suggested pulmonary malignancy but could not differentiate between primary or metastatic cancer when invasive biopsy was quite risky. Novel ¹⁸F-FES PET/CT facilitated the non-invasive functional diagnosis of estrogen-receptor positive (ER+) pulmonary metastasis of BC, and the patient experienced partial response (PR) after CDK4/6 inhibitor and aromatase inhibitor as endocrine therapy. This article reviews the diagnosis and treatment process of this case, to provide guidance for non-invasive global evaluation of ER status among metastatic HR⁺/HER2^- BC patients with ¹⁸F-FES PET/CT.

Severe acute pancreatitis (SAP) is a serious disease commonly encountered in the emergency department and can precipitate systemic inflammatory response syndrome and multiple organ dysfunction syndrome with high morbidity and mortality. However, its etiology and pathogenesis are complex and have not been fully elucidated. Clinical studies can provide some data on the etiology, pathophysiology, and outcome associated with the disease. However, research on SAP cannot be carried out in humans directly for ethical considerations. It is very important to establish an appropriate animal model of SAP to elucidate its pathogenesis and seek innovative therapeutic methods. In this paper, we reviewed the latest research progress at home and abroad in animal models of SAP over the past several years.

Objective:To analyze the genetic features of homologous Robertsonian translocation trisomy 21.Methods:This retrospective analysis involved 12 pedigrees in which singleton fetuses were prenatally diagnosed with homologous Robertsonian translocation trisomy 21 [46,XX/XY,+21,der(21;21)(q10;q10)] at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2012 to January 2023. Moreover, karyotype analysis results of the parental peripheral blood were obtained. The prenatal diagnosis results and genetic features in the 12 pedigrees were summarized using descriptive statistical analysis.Results:Among the 12 pedigrees, eight cases were de novo and the other four were maternally inherited. Three mothers in the four inherited cases had homologous Robertsonian translocation trisomy 21 and the other one was a homologous Robertsonian translocation carrier. The karyotypes of the four fathers were all normal. There were three families with multiple children, two of the couples with normal karyotypes had normal children, and the other couple had a child with homologous Robertsonian translocation trisomy 21 that was inherited from the mother with the same type of trisomy 21. Non-invasive prenatal testing was performed in two pedigrees during this pregnancy and the results showed that one case was at low risk and one was at high risk of trisomy 21. Further testing of the placenta after labor induction confirmed the low-risk case with low proportion of mosaic trisomy 21 (the proportion was 21% on the maternal side of the placenta and 9% on the fetal side). Conclusions:Most cases of homologous Robertsonian translocation trisomy 21 are de nove and few are inherited. Parents of probands with homologous Robertsonian translocation trisomy 21 should be routinely advised to undergo peripheral blood chromosome examination to find out whether they are carriers of homologous Robertsonian translocation.

Objective: To understand the status and associated factors of knowledge, attitude and practice (KAP) about myopia prevention and control among young children s parents in Guangzhou, so as to provide reference for family health education on myopia prevention and control. Methods: During January to February 2023, 4 584 parents of children from kindergarten and primary school (grade 1-3) were recruited. Two to three kindergartens and 2 primary schools were selected from each of the 3 urban districts and 2 suburb districts of Guangzhou by stratified cluster random sampling method. Parents of children were administered with online questionnaire survey on KAP about myopia prevention and control. Descriptive analyses and multivariate Logistic regression models were used. Results: The proportion of parents reaching standard of KAP about myopia prevention and control was 61.54%, the knowledge awareness rate was 57.30%, the positive attitude holding rate was 76.98% and the health practice formation rate was 63.31 %. Internet (70.35%) and lectures on school health education/health education materials (66.14%) were the most common ways for obtaining knowledge for parents. Multivariate Logistic regression analysis showed that urban area, higher education ( college /undergraduate or above), annual household income 50 000-90 000, 100 000-290 000, 300 000-490 000, 500 000- 590 000 , and ≥600 000 Yuan, being aware of vision status (normal/poor) of their children, one or both parents with myopia, both parents with non myopia, acquiring knowledge by multi ways(2, 3, ≥4) were associated with higher KAP about myopia prev ention and control ( OR =1.23, 1.34, 1.36, 1.25，1.49, 1.93, 2.34, 1.64, 1.66, 1.89, 3.48, 3.09, 2.42, 1.65, 2.29, 3.22, P ＜ 0.05). Conclusion Knowledge and practice about myopia prevention and control among young children s parents in Guangzhou are insufficient, yet the attitude was satisfactory. It is necessary to carry out targeted education for parents, especially those living in suburb area, with low education and income level.

OBJECTIVE: To explore the genetic etiology of 5 cases of monochorionic-diamniotic (MCDA) with genetic discordance. METHODS: 148 cases of MCDA twins who were diagnosed by amniocentesis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2020 were selected as the study subjects. Relevant clinical data of the pregnant women were collected, and amniotic fluid samples of the twins were collected separately. Chromosomal karyotyping analysis and single nucleotide polymorphism array (SNP array) assay were carried out. RESULTS: The results of chromosomal karyotyping analysis showed that 5 of the MCDA twins had inconsistent chromosome karyotypes, with an incidence of 3.4% (5/148). SNP array assay showed that 3 fetuses were mosaics. CONCLUSION Genetic discordance occurs among MCDA twins, and prenatal counseling for such cases should be given by doctors with experience in medical genetics and fetal medicine, and personalized clinical management should be recommended.
Child ; Pregnancy ; Female ; Humans ; China ; Twins/genetics* ; Amniocentesis ; Karyotyping ; Fetus ; Twins, Monozygotic/genetics* ; Ultrasonography, Prenatal ; Retrospective Studies

OBJECTIVE: To assess the value of using flat-sided culture tubes for preparing chromosomes through chorionic villi (CV) and amniotic fluid (AF) cell cultures during prenatal diagnosis. METHODS: From February to March 2020, 157 CV samples and 147 AF samples subjected to prenatal diagnosis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region were selected as the study subjects. For each sample, one flat-sided tube and one flask culture were set up by following the standard protocols. The methods were evaluated by comparing the cell growth, experimental process, quality of chromosome preparation and costs. RESULTS: The success rates for the culturing of CV and AF samples by the flat-sided culture tube method were 97.45% (153/157) and 97.96% (144/147), respectively. By contrast, the success rates for the conventional flask method were 98.72% (155/157) for CV and 98.64% (145/147) for AF samples. No significant difference was found between the two methods (P > 0.05). The average harvest time required by the flat-sided culture tube method was 8.45 days for CV and 9.43 days for AF cultures, whilst the average harvest time for conventional flask method was 9.05 days and 9.54 days, respectively. The flat-sided culture tube method for CV had required significantly shorter average harvest time than the conventional method (P < 0.001). No statistical significant difference was found in the average harvest time for AF by the two methods (P > 0.05). The conventional culturing method had required three containers with two sample transfers. By contrast, the flat-sided culture tube method was carried out in one tube without any sample transfer. The average total amount of medium used was 3.91 mL for each flat-sided culture tube and 6.26 mL for each conventional flask. CONCLUSION The flat-sided culture tube method can provide a simple, cost-effective and error-reducing procedure for the CV and AF samples culture during prenatal diagnosis.
Child ; Female ; Pregnancy ; Humans ; China ; Prenatal Diagnosis ; Chorionic Villi Sampling ; Amniotic Fluid ; Cell Proliferation