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

Objective:To explore the construction of an evaluation model for aortic root anatomy and calcium burden in patients with bicuspid aortic valve (BAV) stenosis before transcatheter aortic valve replacement (TAVR) based on deep learning (DL) algorithms.Methods:A retrospective collection of 362 BAV stenosis patients who underwent TAVR from September 2023 to May 2024 was performed. All patients underwent cardiac CT angiography. The patients were divided into training group ( n=104), internal validation group ( n=206), and external validation group ( n=52). A DL model was trained on the training dataset to assess aortic root anatomy and calcification burden. The evaluation included the segmentation accuracy of the algorithm, the measurement performance of key anatomical structures (i.e., valve leaflets and type-1 and type-2 fusion raphe), and calcification burden, as well as the measurement efficiency. Overall segmentation performance was assessed using the average Dice coefficient (ADC). The fine-scale segmentation quality was validated by the 95th-percentile Hausdorff distance (HD-95) and the average symmetric surface distance (ASSD). The consistency of the measurement results was assessed using the Pearson correlation coefficient and the intraclass correlation coefficient ( ICC) with a two-way mixed model for absolute agreement. In addition, the total time and total mouse movement distance required for manual assessment versus the DL model on the validation datasets were recorded and compared. Results:The algorithm demonstrated excellent segmentation performance on aortic root anatomical targets, achieving outstanding consistency within both internal and external validation datasets (0.955

Expanded carrier screening (ECS) is a novel genetic risk assessment approach that leverages next-generation sequencing technologies to simultaneously identify carrier status for hundreds of autosomal recessive or X-linked recessive monogenic disorders in a single assay. This strategy enables stratified risk evaluation and supports informed reproductive decision-making, particularly among individuals undergoing assisted reproductive technologies (ARTs). Despite its increasing utility, the clinical implementation of ECS remains constrained by several challenges, including inconsistencies in screening panel inclusion criteria and the complexity of genetic variant interpretation. To promote the precision application of ECS in ARTs populations, future efforts should prioritize the development of population-specific panels informed by comprehensive genetic data from Chinese cohorts. In addition, strengthening data security and privacy protection policies, along with establishing specialized training programs in reproductive genetic counseling, will be essential for ensuring the responsible and effective integration of ECS into clinical practice.

Objective:To explore the construction of an evaluation model for aortic root anatomy and calcium burden in patients with bicuspid aortic valve (BAV) stenosis before transcatheter aortic valve replacement (TAVR) based on deep learning (DL) algorithms.Methods:A retrospective collection of 362 BAV stenosis patients who underwent TAVR from September 2023 to May 2024 was performed. All patients underwent cardiac CT angiography. The patients were divided into training group ( n=104), internal validation group ( n=206), and external validation group ( n=52). A DL model was trained on the training dataset to assess aortic root anatomy and calcification burden. The evaluation included the segmentation accuracy of the algorithm, the measurement performance of key anatomical structures (i.e., valve leaflets and type-1 and type-2 fusion raphe), and calcification burden, as well as the measurement efficiency. Overall segmentation performance was assessed using the average Dice coefficient (ADC). The fine-scale segmentation quality was validated by the 95th-percentile Hausdorff distance (HD-95) and the average symmetric surface distance (ASSD). The consistency of the measurement results was assessed using the Pearson correlation coefficient and the intraclass correlation coefficient ( ICC) with a two-way mixed model for absolute agreement. In addition, the total time and total mouse movement distance required for manual assessment versus the DL model on the validation datasets were recorded and compared. Results:The algorithm demonstrated excellent segmentation performance on aortic root anatomical targets, achieving outstanding consistency within both internal and external validation datasets (0.955

Expanded carrier screening (ECS) is a novel genetic risk assessment approach that leverages next-generation sequencing technologies to simultaneously identify carrier status for hundreds of autosomal recessive or X-linked recessive monogenic disorders in a single assay. This strategy enables stratified risk evaluation and supports informed reproductive decision-making, particularly among individuals undergoing assisted reproductive technologies (ARTs). Despite its increasing utility, the clinical implementation of ECS remains constrained by several challenges, including inconsistencies in screening panel inclusion criteria and the complexity of genetic variant interpretation. To promote the precision application of ECS in ARTs populations, future efforts should prioritize the development of population-specific panels informed by comprehensive genetic data from Chinese cohorts. In addition, strengthening data security and privacy protection policies, along with establishing specialized training programs in reproductive genetic counseling, will be essential for ensuring the responsible and effective integration of ECS into clinical practice.

【Objective】 To understand the current situation of social emotional competence of infants and toddlers, and analyze its relationship with home rearing environment, in order to provide the basis for improving the level of infant social emotional development. 【Method】 A study was conducted on 390 individuals from a child health institution in Hubei and Henan provinces.The "Infant and Toddler Social-Emotional Assessment Scale" and "1 - 3 Years Child Home Rearing Environment Scale" were used to investigate the social emotions ability and home rearing environment of infants and toddlers. 【Results】 A total of 390 valid questionnaires were collected in this survey, of which 199 were boys (51.0%) and 191 girls (49.0%). The average age of infants was (27.13±6.86)months.The age distribution is mainly among infants and young children aged 24 to 36 months, with a total of 305 people (78.2%). The caregiver′s registered residence (Z=-3.570), father′s education level (H=17.106), mother′s education level (H=7.980), per capita monthly income of the family (H=13.986), and the home rearing environment (Z=-8.881) had statistical significance on the social emotional competence of infants(P<0.05 or <0.01).There was a significant positive correlation between family rearing environment and infants′ social emotion (r=0.582, P<0.01).Multiple regression analysis showed that the social adaptation/self-care(β=0.30, 95%CI: 0.18 - 0.52, P<0.01)and language cognition dimensions(β=0.22, 95%CI: 0.07 - 0.59, P<0.05) in the home rearing environment had a statistically significant impact on the social emotional ability of infants and toddlers. 【Conclusion】 The home rearing environment is closely related to the social emotional development of infants and young children.Improve the parenting knowledge and skills of the main caregivers of infants and young children, build a good family rearing environment for infants and young children, which is beneficial to promote the development of children′s social emotions.

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

The new-generation non-invasive prenatal screening technology (NIPT2.0) is a new method successfully realized in recent years based on high-throughput sequencing to synchronously and accurately detect fetal chromosomal aneuploidies, microdeletion/microduplication syndromes and dominantly inherited monogenic disorders. NIPT2.0 can circumvent the shortcomings of previous non-invasive prenatal screening techniques (NIPT and NIPT Plus) including incapability to detect fetal monogenic disorders, insufficient accuracy of detection and low positive predictive values for certain chromosomal abnormalities (in particular trisomy 13, sex chromosomal abnormalities, and small-segment microdeletions and microduplication syndromes). How to apply NIPT2.0 reasonably and normatively to maximize its clinical value has become an issue which requires clarification. The Reproductive Health Branch of the Chinese Maternal and Child Health Care Association has organized experts to fully discuss and jointly drafted this consensus, which has put forwards suggestions over the clinical application strategy for NIPT2.0, including the scope of application, target disease, pre-test consultation, clinical application pathway, post-test genetic counseling and intervention, quality control and limitations, for the reference by peers, with a view to standardize its application and provide better clinical service.

OBJECTIVE: To observe the clinical efficacy of auricular point sticking therapy combined with antibiotics for pediatric bacterial pneumonia of wind-heat accumulating in lung. METHODS: Ninety-four children with bacterial pneumonia were divided into an observation group (47 cases, 3 cases dropped out) and a control group (47 cases, with 4 cases terminated). The patients in the control group were treated with intravenous drip of latamoxef sodium injection, twice daily for 7 days. The patients in the observation group were treated with auricular point sticking therapy in addition to the treatment given to the control group. Acupoints selected included Fei (CO₁₄), Qiguan (CO₁₆), Jiaogan (AH_6a), Shenshangxian (TG_2P), and Shenmen (TF₄), with treatment applied once daily, alternating ears, for 7 days. The TCM syndrome scores, Canadian acute respiratory illness and flu scale (CARIFS) scores, and levels of white blood cell count (WBC), C-reactive protein (CRP), and procalcitonin (PCT) were compared before and after treatment between the two groups, along with clinical efficacy. RESULTS: Compared before treatment, both groups showed a reduction in TCM syndrome scores, CARIFS scores, and levels of WBC, CRP, and PCT after treatment (P<0.05). Compared with the control group, the observation group had lower TCM syndrome scores in fever, cough, expectoration, lung auscultation, sneezing, runny nose, sleep, and bowel symptoms, as well as lower CARIFS scores in fever, cough, nasal congestion and runny nose, and irritability (P<0.05). The curative and remarkably effective rate was 70.5% (31/44) in the observation group, which was higher than 44.2% (19/43) in the control group (P<0.05). CONCLUSION Auricular point sticking therapy combined with antibiotics is more effective in improving symptoms such as fever, cough, and runny nose in children with bacterial pneumonia of wind-heat accumulating in lung.
Humans ; Male ; Female ; Acupuncture Points ; Child, Preschool ; Child ; Pneumonia, Bacterial/drug therapy* ; Acupuncture, Ear ; Infant ; Treatment Outcome ; Anti-Bacterial Agents/administration & dosage* ; Combined Modality Therapy

Objective:To explore the application value of single-sperm-based single-nucleotide polymorphism (SNP) haplotyping in preimplantation genetic testing of monogenic disorders (PGT-M) associated with de novo mutations. Methods:Whole genome amplification (WGA) of the isolated single sperm was performed based on the multiple displacement amplification (MDA). WGA products were tested for the pathogenic mutation site and informative polymorphic SNP loci located within 2M upstream or downstream of the target gene to establish a sperm-based SNP haplotype. Biopsy samples obtained from embryos were subjected to WGA and next-generation sequencing (NGS). All embryos were verified via haplotype analysis and normal embryos were selected for transfer.Results:Totally 16 sperm samples were selected. Haplotypes of the affected male in 3 families with monogenic hereditary diseases including primary hyperoxaluria type 1 (PH1), Kabuki syndrome and Epidermolysis bullosa (EB) were successfully constructed using single sperm cell sequencing. PGT-M results showed that there were 10 embryos carrying paternal pathogenic variations, while the other 6 embryos did not carry paternal pathogenic variations, 2 of them had chromosomal copy number variations (CNVs). Four embryos obtained from 2 families were found to be normal after NGS according to single-sperm-based SNP haplotype analysis. However, no successful pregnancy was obtained.Conclusion:For males carrying de novo mutations, single-sperm-based SNP haplotyping can be applied for PGT to construct paternal haplotype.