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

A retrospective analysis was conducted on data from five patients comprehensively diagnosed with emphysematous osteomyelitis (EO) based on clinical, imaging, microbiological culture, and surgical findings at Hebei Medical University Third Hospital from December 2020 to May 2024. Among these five cases, there were three males and two females, aged between 11 and 69 years. Three patients had infection risk factors (two with diabetes and one with anemia), while two had no documented risk factors in their medical history. All patients presented with fever, localized pain at the infection site, and elevated inflammatory markers. Site of incidence: EO affected the lumbar spine in three cases, the ilium in one case, and the femur in one case. Pathogenic microorganisms: The causative agents included Klebsiella pneumoniae (two cases), Escherichia coli (one case), Burkholderia cepacia (one case), and a mixed infection of Staphylococcus aureus and Acinetobacter baumannii (one case). Imaging findings: Among the three patients who underwent X-ray examinations, one showed normal results, while two exhibited bone destruction. CT scans of all five cases revealed the characteristic "pumice sign" without periosteal reaction or osteosclerosis. MRI, performed on four patients, demonstrated bone destruction, swelling of surrounding soft tissues, and soft tissue abscess formation. Treatment and outcomes: Four patients underwent surgical debridement combined with perioperative antibiotic therapy. Of these, three recovered well, while one achieved good infection control but suffered severe joint destruction. One patient died after treatment was discontinued. The clinical and laboratory findings of EO resemble those of common acute osteomyelitis; however, EO has distinct imaging characteristics. Timely diagnosis, aggressive surgical debridement, and strong, targeted antibiotic therapy can result in favorable outcomes. Conversely, delayed diagnosis and treatment may lead to severe complications or death.

Objective:To investigate the clinical significance of elevated cytokeratin 19 fragment (CYFRA21-1) in patients with dermatomyositis associated with positive anti-melanoma differentiation-associated gene 5 (MDA5) antibody.Methods:142 consecutive cases with newly onset anti-MDA5(+) (MADEDM)-DM admitted to the first affiliated hospital of Zhengzhou University from June 2018 to October 2021 were enrolled. They were divided into two groups, the low serum CYFRA21-1 group (CYFRA21-1≤4 ng/ml) and the high serum CYFRA21-1 group (CYFRA21-1>4 ng/ml). The clinical manifestations, laboratory tests results, imaging examinations treatment and outcome were collected for statistical analysis. Enumeration data were expressed as the number of cases and percentage (%). Normally distributed parameters were tested by t-test. Parameters with skewed distribution were tested by Mann-Whitney Wilcoxon analysis. Categorical variables were compared by the Chi-square test or Fisher′s exact test. Risk factor analysis was performed using Logistic regression. Cumulative survivals were described by Kaplan-Meier curves. Results:The age of onset in the high CYFRA21-1 group [(56±9)years vs. (50±10) years, t=-3.50, P=0.001] was higher than that in the low CYFRA21-1 group. Fever [63.3% (38/60) vs. 40.2% (33/82), χ2=7.39, P=0.007] was more common in the high CYFRA21-1 group, and arthritis [41.7% (25/60) vs. 69.5%(57/82), χ2=11.01, P=0.001] was less common. Myalgia, myasthenia, rashes, Raynaud′s phenomenon and skin ulcers had no significant difference between the two groups. The WBC count [5.2(4.1, 6.9)×10 9/L vs. 4.3(3.2, 6.2)×10 9/L, Z=-2.57, P=0.010], neutrophil count [4.0(2.9, 5.5)×10 9/L vs. 2.9(2.1, 4.5)×10 9/L, Z=-3.25, P=0.001] and neutrophil/lymphocyte ratio [5.75(3.50, 9.20) vs. 3.55(2.64, 5.41), Z=-3.77, P<0.001] in high CYFRA21-1 group were significantly higher than those in low CYFRA21-1 group. At the same time, LDH [384(302, 519)U/L vs. 318(260, 405)U/L, Z=-2.98, P=0.003], ferritin [1 204(677, 2 039)ng/ml vs. 570(229, 846)ng/ml, Z=-4.78, P<0.001], KL-6 [995(658, 1 491)U/ml vs. 750(563, 1 197)U/ml, Z=-2.49, P=0.013], ESR [36(22, 61)mm/1 h vs. 28(15, 46)mm/1 h, Z=-2.18, P=0.029] and CRP [9.2(4.7, 31.5)mg/L vs. 3.1(1.1, 11.6)mg/L, Z=-3.53, P<0.001] were significantly increased in the high level of CYFRA21-1 group, while serum albumin[(32±5)g/L vs. (35±5)g/L, t=3.92, P<0.001] was significantly decreased. There was no significant difference in the titers of serum anti-MDA5 antibodies between the two groups. The positive rate of anti-RO52 antibody [44(74.6%) vs. 44(53.7%), χ2=6.40, P=0.011] in high CYFRA21-1 group was higher than that in low CYFRA21-1 group. The ground glass opacity (GGO) score [1.75(1.33, 2.42) vs. 1.09(0.67, 1.67), Z=-4.60, P<0.001] based on high resolution CT (HRCT) was also significantly increased in the CYFRA21-1 high level group. Compared with the low CYFRA21-1 group, the high CYFRA21-1 group had a higher probability of RP-ILD [48.3%(29/60) vs. 23.2%(19/82), χ2=9.80, P=0.002] and a higher 6-month mortality rate[48.3%(29/60) vs.13.4%(11/82), χ2=19.70, P<0.001]. Logistic regression analysis showed that age ≥53 years old [ OR(95% CI)=5.197(1.781, 15.165), P=0.003], duration < 2 months [ OR(95% CI)=3.314 (1.058, 10.378), P=0.040], NE/LYMP >5 [ OR(95% CI)=3.443(1.120, 10.586), P=0.031], CRP>5 mg/L[ OR(95% CI)=6.271(1.749, 22.480), P=0.005], CA125>14 U/ml[ OR(95% CI)=7.500 (2.409, 23.345), P=0.001] and CYFRA21-1>4 ng/ml[ OR(95% CI)=3.665(1.258, 10.676), P=0.017] were independent risk factors for death within 6 months in MDA5-DM patients. Kaplan-Meier survival curve showed that the survival rate of the high CYFRA21-1 group was significantly lower than that of the low CYFRA21-1 group( P<0.001). Conclusion:Elevated CYFRA21-1 is an independent risk factor for early mortality in MDA5-DM patients and can serve as a novel serological marker for risk stratification in these patients.

Objective Using meta-analysis to identify the risk factors for slow-flow or no-reflow during percutaneous coronary intervention(PCI)in patients with ST-segment elevation acute myocardial infarction(AMI).Methods A computerized retrieval of academic papers concerning the risk factors for slow-flow or no-reflow during PCI in patients with ST-segment elevation AMI from the databases of CNKI,Wanfang Database,VIP,SinoMed,PubMed,Web of Science,Embase,and Cochrane Library was conducted.The retrieval time period was from the establishment of the database to January 2024.In order to ensure the accuracy and reliability of the study,two independent reviewers screened the literature according to the preset inclusion and exclusion criteria,extracted key data,and strictly evaluated the quality of the literature.RevMan5.4 software was used to make meta-analysis.Results A total of 23 articles with a total of 9 780 cases were included in this analysis.The results of meta-analysis showed that reperfusion time ≥6 h(OR=1.52),preoperative TIMI blood flow≤level-Ⅰ(OR=1.12),heavy thrombus burden(OR=1.60),advanced age(OR=1.56),diabetes(OR=1.83),preoperative Killip grade≥Ⅲ(OR=2.52),long target vessel disease(OR=1.95),and collateral flow≤level-Ⅰ(OR=1.61)were the risk factors for slow-flow or no-reflow during PCI in patients with ST-segment elevation AMI.Preoperative systolic blood pressure＜90 mmHg(OR=1.17)and high white blood cell(WBC)count(OR=1.27)were not the risk factors for slow-flow or no-reflow during PCI in patients with ST-segment elevation AMI.Conclusion Reperfusion time ≥ 6 h,preoperative TIMI blood flow≤level-Ⅰ,heavy thrombus burden,advanced age,diabetes,preoperative Killip grade≥level-Ⅲ,long target vessel lesion,and collateral blood flow≤level-Ⅰ are the independent risk factors for slow-flow or no-reflow during PCI in patients with ST-segment elevation AMI.

Objective To survey conflict occurrence in surrogate decision makers for respiratory intensive care unit(RICU)patients with mechanical ventilation and explore its influencing factors.Methods A total of 101 surrogate decision-makers of mechanical ventilation patients in RICU were subjected from the Second Affiliated Hospital of Army Medical University from June 2024 to December 2024 by convenience sampling.General data questionnaire,Preparation for Decision Making Scale and Decisional Conflict Scale were used to conduct questionnaire survey.One-way ANOVA,Pearson correlation analysis and multiple linear regression analysis were employed to identify the influencing factors.Results The total score of decision readiness was 64.14±22.35,the total score of decision conflict was 35.18±26.47,and the incidence of decision conflict was 69.31%in the participants.Univariate analysis showed that there were statistically differences in whether knowing about prognosis,relationship with patients,awareness of patients'ideas about treatment,and understanding of information related to mechanical ventilation among the participants(P<0.05).Pearson correlation analysis indicated that decision readiness was negatively correlated with decision conflict and its 3 dimensions(P<0.001).The results of multiple linear regression analysis revealed that understanding of information related to mechanical ventilation and decision readiness were influencing factors for the decision conflict of the participants(P<0.001).Conclusion The decision conflict level is quite higher in the surrogate decision makers for RICU patients with mechanical ventilation,and the level is negatively correlated with the understanding of mechanical ventilation related information and decision readiness.

Objective: To investigate the association of physical activity and screen time with overweight and obesity among children and adolescents with special needs in Tianjin, so as to provide scientific evidence for childhood obesity prevention and intervention measures in the population. Methods: From January 2022 to June 2024, 296 children and adolescents with intellectual disabilities and autism spectrum disorders aged 2-18 years were recruited from special education schools and institutions in Tianjin. Height and weight were measured, and a standardized questionnaire was used to assess physical activity and screen time. Binary Logistic regression analysis was carried out to investigate the association of physical activity and screen time with overweight and obesity. Results: The prevalence of overweight and obesity among children and adolescents with special needs in Tianjin were 17.2% and 21.6%, respectively, and the combined prevalence of overweight and obesity was 38.9%. The median of moderatetovigorous physical activity (MVPA) time was 0.20 h/d, and physical activity sufficiency rate was 7.8%. The median of screen time was 1.79 h/d, and the screen time compliance rate was 68.2%. The binary Logistic regression results showed that lower levels of MVPA time and increased screen time were associated with a higher risk of overweight and obesity among children and adolescents with special needs [OR(95%CI)=1.80(1.06-3.07), 2.40(1.42-4.07),P<0.05]. Conclusions Insufficient physical activity and excessive screen time are associated with an increased risk of overweight and obesity among children and adolescents with special needs. Therefore, comprehensive intervention measures should be implemented as early as possible to prevent and reduce the incidence of overweight and obesity in this population.

Objective: To understand the current situation and related factors of screening myopia among students in special education schools, so as to provide evidence for promoting the health level of this population. Methods: From November 2021 to December 2023, a total of 281 students from 6 special education schools in 5 districts of Tianjin were selected by cluster random sampling method for computer optometry visual acuity examination for non ciliary paralysis and questionnaire survey. Multiple Logistic regression was performed to analyze the influencing factors of screening myopia among special education students. Results: The screening myopia detection rate among these special education students in Tianjin was 27.0%, and the screening myopia detection rates of students with autism, developmental delays, and intellectual disabilities were 22.4%, 12.5%, and 33.0%, respectively. The degree of myopia increased with age ( χ 2 trend =22.65, P <0.01). Multivariate Logistic regression analysis showed that age(10-13 years old: OR =5.40, 14-17 years old: OR =8.40, 18-23 years old: OR =6.02), accommodation(non resident: OR =0.29), daily mobile phone usage ≥2 hours ( OR =2.37), and daily computer/tablet usage ≥2 hours ( OR =2.70) were the risk factors for screening myopia among special education students ( P <0.05). Conclusions The detection rate and degree of screening myopia increase with age in special education students. Prolonged screen time exposure is a primary risk factor for screening myopia in special education students. Effective myopia prevention and control strategies should be designed according to the characteristics of special education students.

Objective To investigate the expression changes and clinical significance of serum pepsinogen(PG)and triggering receptor expressed on myeloid cells-1(TREM-1)in patients with reflux esophagitis(RE).Methods A total of 140 patients with RE who were treated from October 2021 to October 2023 were selected as the observation group,and 140 healthy adults who underwent physical examination during the same period were selected as the control group.Serum PG(PGⅠ and PGⅡ)and TREM-1 were detected by ELISA.Multivariate logistic regression was used to analyze the influencing factors of RE.Receiver operating characteristic(ROC)was used to analyze the diagnostic efficacy of serum PGⅠ,PGⅡ and TREM-1 levels for RE.Results The levels of interleukin(IL)-2,IL-6,Il-1β,PGⅡ,TREM-1 and tumor necrosis factor-α(TNF-α)in the observation group were significantly higher than those in the control group,while the level of PGⅠ was significantly lower than that in the control group(P<0.01).Serum IL-2,IL-6,IL-1β,TNF-α,PGⅡ and TREM-1 were risk factors for RE,while serum PGⅠ was a protective factor for RE(P<0.01).ROC curve analysis showed that the area under the ROC curve(AUC)of combined detection of PGⅠ,PGⅡ and TREM-1 in the diagnosis of RE was significantly higher than that of PGⅠ alone(Z=5.940,P<0.001)and PGⅡ alone(Z=6.764,P<0.001)and TREM-1 alone(Z=6.791,P<0.001).Conclusion The expression levels of serum PGⅡ and TREM-1 in patients with RE are increased,while the expression level of PGⅠ is decreased.The combined detection of the three can improve the diagnostic efficacy of RE.

Objective:To investigate the clinical characteristics, auxiliary examinations, and genetic mutations of a patient with myotonia congenita (MC).Methods:A retrospective analysis was conducted on the clinical data and whole exome sequencing results of a patient who visited the Department of Neurology, the First Affiliated Hospital of Xinjiang Medical University on April 13, 2023, and her family members. Candidate variants were verified by Sanger sequencing.Results:The patient was a 30-year-old female who presented with muscle stiffness and transient weakness during the transition from rest to movement since childhood, which improved after repeated limb movements. With age, involvement of upper limb skeletal muscles, extraocular muscles, and masticatory muscles was noted. Electromyography (EMG) showed abundant myotonic potentials in the muscles of the limbs, and serum creatine kinase levels (586.80 IU/L) were elevated. Genetic testing revealed that the patient carried 2 mutations in the CLCN1 gene: a newly discovered single nucleotide deletion mutation c.1388del (p.Phe463SerfsTer4), and a known missense mutation c.1679T>C (p.Met560Thr). These mutations were present in a compound heterozygous state. The patient′s father carried the c.1388del single heterozygous mutation, while her mother, son, aunt, younger uncle, and grandmother carried the c.1679T>C single heterozygous mutation. Conclusions:MC is primarily characterized by muscle stiffness and transient weakness at the onset of movement, which improves after "warm-up". The proband in this pedigree exhibits typical MC symptoms, with significantly elevated creatine kinase levels and EMG revealing abundant myotonic potentials in the muscles of the limbs indicating myopathic damages. The new mutation c.1388del (p.Phe463SerfsTer4) in the CLCN1 gene further expands the spectrum of pathogenic mutations in the CLCN1 gene.