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

Deutetrabenazine(DTBZ)is a selective oral small molecule inhibitor of vesicular monoamine transporter 2(VMAT2).Its pharmacological action works by inhibiting VMAT2,thereby reducing the release of presynaptic dopamine and alleviating tardive dyskinesia symptoms caused by long-term use of dopamine receptor antagonists.Compared with tetrabenazine,DTBZ has longer half-life,lower peak plasma concentration,and smaller plasma concentration fluctuations.Clinical studies demonstrate that DTBZ significantly improves abnormal involuntary movement in patients with tardive dyskinesia and has a favourable safety profile.Based on available clinical evidence and practical experience,this paper discuss the common questions about DTBZ including the suitable population,dose,duration of treatment,combination administration with antipsychotics,efficacy assessment and application in special populations.This article aimed to provide guidance and recommendations on clinical application of DTBZ for clinicians.

Objective This study aimed to investigate the relationship between multiple inflammatory markers and poor outcome in patients with intracerebral hemorrhage,and to compare their predictive abilities.Methods We retrospectively analyzed the patients with intracerebral hemorrhage admitted to the Department of Neurology of the First Affiliated Hospital of Nanchang University from January 1,2015 to March 31,2023.According to the Modified Rankin Scale at 90 days after onset,the patients were divided into good outcome(mRS≤2 points)and poor outcome(mRS score≥3 points).Clinical information,laboratory examinations and follow-up data were compared between the two groups.Inflammatory markers include neutrophil to lymphocyte ratio(NLR),platelet to lymphocyte ratio(PLR),monocyte to high-density lipoprotein ratio(MHR),systemic inflammatory response index(SIRI),systemic immune-inflammation index(SII),white blood cell count to mean platelet volume ratio(WMR),lymphocyte to monocyte ratio(LMR),and systemic coagulation-inflammation index(SCI).Univariate and multivariate logistic regression analysis were used to analyze the predictors of poor prognosis after intracerebral hemorrhage,and receiver operating characteristic curve(ROC)was constructed to compare their predictive ability.Results A total of 510 patients with intracerebral hemorrhage were included.Of those,297(58.2%)had good outcome,and 213(41.8%)had poor outcome.Comparison of baseline characteristics demonstrated that patients with poor prognosis had higher levels of white blood cells,neutrophils,high-density lipoprotein,fibrinogen,NLR,PLR,SIRI,SII,WMR at admission,larger baseline hematoma volume and baseline perihematomal edema volume,a higher proportion of lobar hemorrhage,older age,and lower levels of platelets,lymphocytes,LMR,and SCI(P<0.05).Multivariate regression analysis showed that NLR(OR:1.081,95%CI:1.032～1.1131,P=0.001),SIRI(OR:1.089,95%CI:1.014～1.169,P=0.019),SII(OR:1.000,95%CI:1.000～1.001,P=0.011),WMR(OR:2.627,95%CI:1.267～5.445,P=0.009)were independently associated with poor prognosis in patients with ICH.In ROC analysis,the area under the curve of NLR(0.729,95%CI:0.685～0.774)was higher than SIRI(0.692,95%CI:0.645～0.738),SII(0.688,95%CI:0.641～0.735)and WMR(0.65,95%CI:0.602～0.698)for predicting poor outcomes.Conclusion NLR,SIRI,SII and WMR at admission are independently associated with poor outcomes in patients with intracerebral hemorrhage,and NLR has the strongest predictive ability.

This study investigated the potential pathogenicity and genetic characteristics of ST314 Salmonella Kentucky(S.Ken-tucky)isolates from a broiler slaughterhouse.Antimicrobial susceptibility testing and whole-genome sequencing(WGS)were used to determine antimicrobial resistance,virulence factors,and the presence of antimicrobial resistance genes(ARGs)and mobile genetic elements(MGEs)among the isolates.The three multidrug resistant(MDR)isolates exhibited high resistance to multiple antimicrobial agents.The F4-2S strain exhibited resistance to 14 drugs across seven categories,whereas the F4T strain showed resistance to 13 drugs in the same number of categories.In contrast,the Y23 strain was resistant to nine drugs in six categories.Notably,F4-2S dem-onstrated high homology with F4T:both possessed 13 ARGs distributed across nine categories,in addition to a wide range of virulence factors,including secretion systems and effector proteins.The presence of IncR and IncX1 plasmids significantly enhanced both the antimicrobial resistance and pathogenicity of the isolates.The genome map of Y23 revealed a chromosome alongside two plasmids.The chromosome containedonly one resistance gene but several virulence factors,including the type III secretion system(T3SS),which is crucial for bacterial invasion.The plasmid pY23-1 contained eight types of 19 ARGs.Comparative analysis indicated that pY23-1 ex-hibited high homology with pZ1323SSL0055 and pSAL-045,all of which contained multiple ARGs,thus suggesting critical roles of these genes in the evolution of bacterial resistance.In conclusion,ST314 S.Kentucky demonstrated a complex mechanism of resis-tance coupled with significant pathogenic potential.The ARGs and MGEs in the plasmid contributed to the emergence and dissemina-tion of antimicrobial resistance.The multiple virulence factors present in the chromosome may be key factors driving the increasing virulence of ST314 S.Kentucky.

Objective:To evaluate the efficacy of cyclophosphamide in patients with T-cell large granular lymphocytic leukemia (T-LGLL) and the maintenance of treatment-free remission (TFR) following drug discontinuation.Methods:Clinical data were collected from 37 patients with T-LGLL who received oral cyclophosphamide at the Regenerative Medicine Clinic of the Institute of Hematology and Blood Diseases Hospital between June 2019 and March 2024. Patient clinical characteristics, treatment efficacy, and long-term TFR were analyzed.Results:The median age of the 37 patients was 60 years (range: 37-86), and 22 (59.5%) were male. Anemia was observed in 30 patients (81.1%), and 28 (75.7%) met the diagnostic criteria for secondary pure red cell aplasia. Neutropenia occurred in 15 patients (40.5%), lymphocytosis in 11 (29.7%), and thrombocytopenia in three (8.1%). Sixteen patients (43.2%) had not received prior immunosuppressive therapy (treatment-naive group), while 21 patients (56.8%) were refractory to or had relapsed after immunosuppressive treatment (refractory/relapsed group). All patients met the treatment criteria and received oral cyclophosphamide at doses of 50-100 mg/day. Among the 36 evaluable patients, hematologic remission was achieved in 25 (69.4%), with a median time of 2.0 months (range: 0.7-7.0). There was no statistically significant difference in remission rates between the treatment-naive and refractory/relapsed groups (68.5% vs. 66.7%, P=0.589). Among the 25 patients who achieved hematologic remission, 24 discontinued cyclophosphamide. With a median follow-up of 39.0 months (range: 8.0-56.0), the median TFR duration was not reached. The estimated TFR rates were (90.87± 6.16) % at 12 months and (75.72±11.04) % at 36 months. No significant difference in TFR was observed between the treatment-naive and refractory/relapsed groups ( P=0.451) . Conclusion:Oral cyclophosphamide is effective in the treatment of T-LGLL, and patients may maintain long-term TFR following drug discontinuation.

Objective:To explore the role of diffusion tensor imaging (DTI) in monitoring prognosis after contralateral C7 nerve transfer in patients with central paralysis.Methods:The clinical data of a 56-year-old male patient with right limb motor impairment after cerebral infarction, admitted to the Department of Neurosurgery at Brain Hospital of Hunan Province in October 2023, were retrospectively analyzed. The patient had experienced right limb motor dysfunction for over 2 years following a cerebral infarction and was treated with contralateral C7 nerve transfer. Follow-ups were conducted at 2 and 6 months postoperatively. Motor function was assessed using the Fugl-Meyer Assessment (FMA) and Activities of Daily Living (ADL) scale, while changes in fractional anisotropy (FA) in the lesion area and corticospinal tract were monitored via DTI.Results:Postoperative follow-up of patient showed: (1) Significant improvement in motor function: ADL scores increased from 65 preoperatively to 75 (2 months postop) and 80 (6 months postop); FMA scores increased from 46 to 58 (2 months postop) and 61 (6 months postop). Muscle tension in the affected upper limb decreased markedly, and range of motion in the right shoulder joint improved. (2) Imaging improvements: DTI revealed an increase in FA values from 0.157 to 0.174 in the lesion area and from 0.52 to 0.53 in the corticospinal tract, indicating partial restoration of neural tract integrity.Conclusions:Contralateral C7 nerve transfer can effectively improve motor function in stroke patients. DTI technology provides an objective imaging basis for clinically assessing functional recovery by quantitatively evaluating changes in neural tract integrity, demonstrating significant value in guiding rehabilitation.

Objective To investigate the prevalence of specific IgE antibodies against Alternaria alternata and Aspergillus fumigatus in serum samples from clinical allergy patients across selected provinces in China.Methods Data on specific IgE antibodies for Alternaria A.and Aspergillus F.were collected from 20 hospital laboratories in 17 cities spanning 11 provinces.The study analyzed the levels of specific IgE and their variations across different provinces and seasons.Results A total of 27 471 cases of Alternaria A.and 32 843 cases of Aspergillus F.specific IgE data were included.The national average positive rate of Alternaria A.IgE was 10.40%,with the highest rate of 22.68%in Jiangsu and the lowest rate of 2.06%in Guangxi.For Aspergillus F.specific IgE,the average positive rate was 4.24%,with Hubei province having the highest rate(7.25%)and Hunan province the lowest(1.23%).The difference in IgE levels for both Alternaria A.and Aspergillus F.among provinces were statistically significant(H=9 955,16 993,all P<0.0001).Among patients,5.85%had Alternaria A.specific IgE levels at grade 3 or above,while only 0.57%had Aspergillus F.specific IgE levels at this level.When examining seasonal variations using data from Liaoning,Hunan and Anhui provinces,significant seasonal changes were observed for both Alternaria A.and Aspergillus F.IgE antibodies(HAlternaria A=347.6,338.0,401.3,HAspergillus F=196.6,133.7,231.7,all P<0.0001).Conclusion The sensitization to Alternaria A.and Aspergillus F.exhibits distinct geographical characteristics and vary significantly with seasons.Given the relatively high IgE levels associated with Alternaria A.,it should be given adequate clinical attention.

Neurogastroenterology and motility disorders of the upper gastrointestinal (GI) tract represent a complex and heterogeneous group of conditions that involve the interaction between the GI tract and the central nervous system. They constitute a significant number of outpatient gastroenterology visits, resulting in a high healthcare burden. These disorders often occur in the absence of identifiable structural causes on routine endoscopy and radiological imaging. A more targeted approach in the assessment of functional GI disorders is increasingly being integrated into routine clinical practice, given the recent advancements in technology and physiologic testing. When used in the appropriate clinical context, these tests not only elucidate the physiological basis for the patient's symptoms, but also prevent inappropriate treatment and repeated investigations. This review aims to summarise the advances in clinically available diagnostic tools for the evaluation of upper GI functional disorders.
Humans ; Gastrointestinal Diseases/physiopathology* ; Upper Gastrointestinal Tract/physiopathology* ; Gastrointestinal Motility ; Endoscopy, Gastrointestinal

BACKGROUND: While emotional distress, encompassing anxiety and depression, has been associated with negative clinical outcomes, its impact across various clinical departments and general hospitals has been less explored. Previous studies with limited sample sizes have examined the effectiveness of specific treatments (e.g., antidepressants) rather than a systemic management strategy for outcome improvement in non-psychiatric inpatients. To enhance the understanding of the importance of addressing mental health care needs among non-psychiatric patients in general hospitals, this study retrospectively investigated the impacts of emotional distress and the effects of early detection and management of depression and anxiety on hospital length of stay (LOS) and rate of long LOS (LLOS, i.e., LOS >30 days) in a large sample of non-psychiatric inpatients. METHODS: This retrospective cohort study included 487,871 inpatients from 20 non-psychiatric departments of a general hospital. They were divided, according to whether they underwent a novel strategy to manage emotional distress which deployed the Huaxi Emotional Distress Index (HEI) for brief screening with grading psychological services (BS-GPS), into BS-GPS ( n = 178,883) and non-BS-GPS ( n = 308,988) cohorts. The LOS and rate of LLOS between the BS-GPS and non-BS-GPS cohorts and between subcohorts with and without clinically significant anxiety and/or depression (CSAD, i.e., HEI score ≥11 on admission to the hospital) in the BS-GPS cohort were compared using univariable analyses, multilevel analyses, and/or propensity score-matched analyses, respectively. RESULTS: The detection rate of CSAD in the BS-GPS cohort varied from 2.64% (95% confidence interval [CI]: 2.49%-2.81%) to 20.50% (95% CI: 19.43%-21.62%) across the 20 departments, with a average rate of 5.36%. Significant differences were observed in both the LOS and LLOS rates between the subcohorts with CSAD (12.7 days, 535/9590) and without CSAD (9.5 days, 3800/169,293) and between the BS-GPS (9.6 days, 4335/178,883) and non-BS-GPS (10.8 days, 11,483/308,988) cohorts. These differences remained significant after controlling for confounders using propensity score-matched comparisons. A multilevel analysis indicated that BS-GPS was negatively associated with both LOS and LLOS after controlling for sociodemographics and the departments of patient discharge and remained negatively associated with LLOS after controlling additionally for the year of patient discharge. CONCLUSION Emotional distress significantly prolonged the LOS and increased the LLOS of non-psychiatric inpatients across most departments and general hospitals. These impacts were moderated by the implementation of BS-GPS. Thus, BS-GPS has the potential as an effective, resource-saving strategy for enhancing mental health care and optimizing medical resources in general hospitals.
Humans ; Retrospective Studies ; Male ; Length of Stay/statistics & numerical data* ; Female ; Middle Aged ; Adult ; Psychological Distress ; Inpatients/psychology* ; Aged ; Anxiety/diagnosis* ; Depression/diagnosis*

This study aims to delve into the influences and underlying mechanisms of Banxia Xiexin Decoction(BXD) on the proliferation, apoptosis, invasion, and migration of colon cancer cells. Firstly, the components of BXD in blood were identified by UPLC-MS/MS, and subsequently the content of these components were determined by HPLC. Then, different concentrations of BXD were used to treat both the normal intestinal epithelial cells(NCM460) and the colon cancer cells(HT29 and HCT116). The cell viability and apoptosis were examined by the cell counting kit-8(CCK-8) and flow cytometry, respectively. Western blot was employed to determine the expression of the apoptosis regulators B-cell lymphoma-2(Bcl-2) and Bcl-2-associated X(Bax). The cell wound healing assay and Transwell assay were employed to measure the cell migration and invasion, respectively. Additionally, Western blot was employed to determine the expression levels of epithelial-mesenchymal transition(EMT)-associated proteins, including epithelial cadherin(E-cadherin), neural cadherin(N-cadherin), and vimentin. The protein and mRNA levels of the factors in the poly(ADP-ribose) glycohydrolase(PARG)/poly(ADP-ribose) polymerase 1(PARP1)/nuclear factor kappa-B p65(NF-κB p65) signaling pathway were determined by Western blot and RT-qPCR, respectively. The results demonstrated that following BXD intervention, the proliferation of HT29 and HCT116 cells was significantly reduced. Furthermore, BXD promoted the apoptosis, enhanced the expression of Bcl-2, and suppressed the expression of Bax in colon cancer cells. At the same time, BXD suppressed the cell migration and invasion and augmented the expression of E-cadherin while diminishing the expression of N-cadherin and vimentin. In addition, BXD down-regulated the protein and mRNA levels of PARG, PARP1, and NF-κB p65. In conclusion, BXD may inhibit the malignant phenotypes of colon cancer cells by mediating the PARG/PARP1/NF-κB signaling pathway.
Colonic Neoplasms/pathology* ; Drugs, Chinese Herbal/pharmacology* ; Phenotype ; Signal Transduction/drug effects* ; Cell Proliferation/drug effects* ; Apoptosis ; Cell Movement/drug effects* ; Neoplasm Invasiveness ; HCT116 Cells ; Proto-Oncogene Proteins c-bcl-2/biosynthesis* ; Humans ; Poly (ADP-Ribose) Polymerase-1 ; Glycoside Hydrolases ; bcl-2-Associated X Protein ; NF-kappa B p50 Subunit