OBJECTIVE: To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists. METHODS: By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements. RESULTS: The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development. CONCLUSION Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans ; China ; Surveys and Questionnaires ; Genetic Diseases, Inborn/genetics* ; Cross-Sectional Studies ; Genetics, Medical/education* ; Genetic Testing

Neurocritical care involves complex pathophysiological mechanisms, and its incidence is higher, injuries are more severe, and treatment is more challenging in high-altitude environments. This consensus, based on the latest domestic and international evidence-based medical data, establishes a standardized, goal-oriented framework for neurocritical care management applicable in high-altitude regions and nationwide. The consensus was developed following international standards for evidence quality assessment and underwent two rounds of Delphi expert consultation, resulting in 32 recommendation statements covering three parts: management systems, monitoring and assessment, and core strategies. Key updates include: advocating for the establishment of independent neurocritical care units and implementing precise tiered diagnosis and treatment based on the "Five Differences in Critical Care" concept; constructing a "trinity" multimodal brain monitoring system centered on cerebral blood flow, cerebral oxygenation, and brain function, emphasizing routine bedside transcranial Doppler ultrasound, cerebral oximetry, and continuous electroencephalography monitoring; shifting management strategies from mild hypothermia therapy to targeted temperature management, and defining the "446" target management pathway for the supercritical stage; emphasizing the assessment of static and dynamic cerebrovascular autoregulation functions through multimodal methods to achieve individualized optimal mean arterial pressure management; elevating cerebrospinal fluid management goals to the level of "glymphatic system" function maintenance; implementing a multidisciplinary collaborative, whole-process management model focusing on patients' long-term neurological functional outcomes; de-escalation criteria include multidimensional indicators such as recovery of brain structure, restoration of cerebrovascular autoregulation, improvement in cerebrospinal fluid dynamics, and reduction in biomarker levels; and integrating cutting-edge technologies like artificial intelligence into post-critical care management and rehabilitation planning. This consensus systematically integrates the entire process of neurocritical care management, reflecting the modern connotation of goal-oriented, dynamic, and multimodal integration in neurocritical care medicine. It aims to adapt to new trends such as deepening understanding of pathophysiological mechanisms, the integration of medicine and engineering, and the empowerment of artificial intelligence, thereby further advancing the discipline of critical care medicine.

With the continuous deepening of the concept of precision diagnosis and treatment for lung cancer, how to achieve higher efficiency and accuracy in the screening, diagnosis, and treatment pathways in clinical practice has become an important issue that urgently needs to be overcome. The current clinical difficulty lies in the fact that despite continuous advancements in imaging and molecular diagnostic technologies, there are still limitations in manual efficiency and subjective experience when it comes to massive data analysis and multi-scale feature extraction. Artificial intelligence (AI), especially algorithm systems based on deep learning, is an innovative technology capable of deeply empowering medical big data. This method utilizes algorithms such as convolutional neural networks, combined with radiomics, pathomics, and multi-modal data fusion analysis, demonstrating immense potential in early precise detection and benign-malignant differentiation of pulmonary nodules, digital pathological subtype recognition and non-invasive prediction of driver genes, precise 3D surgical planning and automatic delineation of radiotherapy target volumes, as well as dynamic risk warning during follow-up. This innovative technology provides a brand-new solution for realizing intelligent and individualized lung cancer diagnosis and treatment models. This consensus, based on the latest evidence from evidence-based medicine and combined with the development trends in the AI field and real-world clinical needs, was ultimately formed by gathering the consensus opinions of multidisciplinary experts in radiology, pathology, thoracic surgery, and other fields. The main content covers the application specifications of AI in the three core scenarios of lung cancer screening, diagnosis, and treatment, the technical standards for data collection and algorithm validation, as well as the ethical and regulatory challenges faced at the current stage. It aims to clarify the applicable boundaries of AI as a clinical auxiliary decision support tool, providing scientific guidance and standardized exploration directions for peers currently engaged in or planning to carry out AI-assisted clinical diagnosis, treatment, and translation of lung cancer.

The number and types of drug abuse are increasing all over the world.The detection of drug suspects and biological samples of drug users plays an important role in forensic medicine.Surface-enhanced Raman spectroscopy(SERS)has the characteristics of fingerprint recognition,high sensitivity,high accuracy,fast and nondestructive,and is not interfered by water molecules.SERS has been widely used in detection of trace drugs and drugs in complex matrices.This paper introduced the types of SERS substrates applied to drug detection and the development status of portable SERS instruments.The research progresses of SERS in drug detection in the past five years were reviewed,focusing on the types of SERS detected drugs,the design of enhanced substrates,detection methods and detection limits.Finally,the application prospect of SERS technology in drug detection was discussed to provide reference for the development of drug detection technology in the future.

Objective To identify the pathogenic gene and variant for a family with branchio-otic syndrome.Methods The clinical data of this family were collected,and the peripheral blood was extracted for deafness gene NGS panel analysis.Pathogenic variation detected was verified by Sanger sequencing.Results The family contained 17 members in three-generations,3 of whom exhibited autosomal dominant,hearing loss,preauricular fistula and branchial cleft fistula,which were in accordance with the clinical diagnosis criteria of branchio-otic syndrome.A no-vel heterozygous variant c.963dupT(p.E322X)in EYA1 gene was identified,which co-segregated with the branchi-o-otic syndrome phenotype in the family.The variant was a nonsense variant resulting in the premature appearance of the stop codon.According to the American College of Medical Genetics and Genomics(ACMG)guidelines and the criteria,the variant was classified as pathogenic.Conclusion We identified a novel pathogenic variant EYA1:c.963dupT(p.E322X)in a family with branchio-otic syndrome.

AIM To establish an HPLC-MS/MS method for the simultaneous content determination of gallic acid,protocatechuic acid,oxypaeoniflorin,catechin,epicatechin,albiflorin,paeoniflorin,rutin,calycosin-7-glucoside,syringaldehyde,ferulic acid,coumarin,ononin,calycosin,cinnamic alcohol,cinnamic acid,benzoylpaeoniflorin,cinnamaldehyde,astragaloside,astragaloside Ⅲ,6-gingerol in Huangqi Guizhi Wuwu Decoction.METHODS The analysis was performed on a 30 ℃ thermostatic Thermo Scientific Hypersil GOLD column(150 mmx4.6 mm,3 μm),with the mobile phase comprising of 0.015％formic acid-acetonitrile flowing at 0.4 mL/min in a gradient elution manner,and electrospray ionization source was adopted in positive and negative ion modes with multiple reaction monitoring.RESULTS Twenty-one constituents showed good linear relationships within their own ranges(r＞0.990 5),whose average recoveries were 93.99％-108.52％with the RSDs of 1.04％-5.97％.CONCLUSION This simple,feasible,stable and reliable method can be used for the quality control of Huangqi Guizhi Wuwu Decoction.

Objective:To investigate the clinical efficacy and safety of venetoclax(VEN)in combination with hypomethylating agent(HMA)in the treatment of patients with high-risk myelodysplastic syndromes(MDS).Methods:A total of 30 patients with high-risk MDS who received the combination of VEN and HMA from March 2019 to November 2022 were included.The overall response rate(ORR),modified overall response rate(mORR),overall survival(OS),progression-free survival(PFS),and adverse events of all included patients were evaluated.Results:Among the 30 high-risk MDS patients treated with VEN combined with HMA regimen,24 cases achieved complete response(CR)/marrow complete response(mCR),2 cases achieved partial response(PR),the ORR was 24/30,the median OS was 28.1 months,and the median PFS was 28.1 months.In addition,patients who achieved complete remission/marrow complete remission after treatment had a significantly longer OS than those who did not.Moreover,12 patients were treated with allogeneic hematopoietic stem cell transplantation(allo-HSCT).There were grade 3 or higher hematologic adverse events including thrombocytopenia(14 cases),neutropenia(14 cases),febrile neutropenia(10 cases)and anemia(7 cases)as well as gastrointestinal adverse events of any grade,such as vomiting(7 cases),diarrhea(5 cases),and constipation(4 cases).Conclusion:VEN in combination with HMA is an effective and safe treatment option in patients with high-risk MDS.This regimen combined with allo-HSCT can improve the prognosis of these patients.Continuous attention to the monitoring and management of adverse events is essential for the patients'safety in this combination therapy.

Objective:To observe the effects of Maxing Loushi decoction on the inflammatory response and inflammatory indicators in mice with chronic obstructive pulmonary disease (COPD) models.Methods:Thirty-six BALB/C mice were randomly divided into 4 groups by random number table method: 10 mice in the COPD model group (referred to as the model group), 10 mice in the Maxing Loushi decoction group (referred to as the traditional Chinese medicine group), 10 mice in the programmed death receptor-1 (PD-1) inhibitor group (referred to as the control group), and 6 mice in the normal group. The COPD models of mice in the model group, the traditional Chinese medicine group and the control group were prepared by cigarette smoking combined with lipopolysaccharide (LPS) induction method. During the modeling process, the model group and the traditional Chinese medicine group were respectively given normal saline and Maxing Loushi decoction by gavage. The control group was given intraperitoneal injection of PD-1 inhibitor, while the normal group was given intragastric administration of normal saline. Pathological changes of lung tissues in each group of mice were detected by HE staining. The levels of inflammatory factors [monocyte chemotactic protein-1 (MCP-1), macrophage inflammatory protein-1α (MIP-1α), interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-α)] in the plasma and alveolar lavage fluid (BALF) of mice in each group were determined by enzyme-linked immunosorbent assay (ELISA). The effects of Maxing Loushi decoction intervention on inflammatory responses and inflammatory factors were evaluated.Results:The lung tissue structure in the normal group was basically normal. There was no thickening of the alveolar walls, no infiltration of neutrophils in the tissues, and no obvious inflammatory infiltration. In the model group, the lung tissue structure was slightly abnormal. A small amount of alveolar atrophy could be observed, the alveolar walls were slightly thickened, and inflammatory infiltration could be seen. In the traditional Chinese medicine group, the lung tissue structure was slightly abnormal. A small amount of alveolar atrophy and collapse could be observed, the alveolar walls were not thickened, and individual neutrophil infiltration could be seen in the tissue. In the control group, the lung tissue structure was slightly abnormal, some alveoli atrophied, and a small amount of neutrophil infiltration could be seen in the tissue. The levels of MCP-1 and MIP-1α in plasma and lavage fluid of the model group were significantly higher than those of the normal group (all P<0.05), while the levels of MCP-1 and MIP-1α in plasma and lavage fluid of the traditional Chinese medicine group and the control group were significantly lower than those of the model group (all P<0.05). Moreover, the levels of plasma MCP-1 and MIP-1α in the traditional Chinese medicine group were significantly lower than those in the control group (all P<0.05), while there was no statistically significant difference in the levels of MCP-1 and MIP-1α in alveolar lavage fluid between the traditional Chinese medicine group and the control group (all P>0.05). The levels of IL-6 and TNF-α in plasma and alveolar lavage fluid of the model group were significantly higher than those of the normal group (all P<0.05), while the levels of IL-6 and TNF-α in plasma and alveolar lavage fluid of the traditional Chinese medicine group and the control group were significantly lower than those of the model group (all P<0.05). Moreover, the levels of IL-6 and TNF-α in plasma and alveolar lavage fluid of the traditional Chinese medicine group were significantly lower than those of the control group (all P<0.05). Conclusions:The intervention of Maxing Loushi decoction has a significant improvement effect on the inflammatory response of COPD model mice. Inflammatory factors such as MCP-1, MIP-1α, IL-6, and TNF-α can be used as indicators to determine the degree of COPD inflammation.