Objective To investigate the clinical significance of the combined screening of thyroid stimulating hormone(TSH)and seven candidate pathogenic genes of congenital hypothyroidism(CH)for CH.Methods 16 645 newborns delivered in Nanjing Women and Children's Healthcare Hospital from July 2022 to July 2023 were performed the screening of TSH.Their DNA was extracted from dried blood spots and the chip capture second-generation sequencing technology was used to detect the candidate pathogenic genes,in-cluding dual oxidase 2(DUOX2),dual oxidase maturation factor 2(DUOXA2),prophet of pit-1(PROP1),thyroid-stimulating hor-mone receptor(TSHR),thyroid peroxidase(TPO),thyroglobulin(TG),and paired box 8(PAX8).The sensitivity,specificity,pos-itive predictive value(PPV),and negative predictive value(NPV)of the screening of TSH,candidate genes,and their combination for CH were analyzed.Results A total of 13 CH patients were screened out based on sensitive thyroid stimulating hormone(sTSH)and free thyroxine(FT4),including 3 patients with hyperthyrotropinemia.Among them,11 were screened out by TSH alone,4 were screened out by candidate genes alone,and 2 were screened out by the combination of TSH and candidate genes.The sensitivity,speci-ficity,PPV,and NPV of TSH for screening CH were 84.62％,99.23％,7.91％,and 99.97％,respectively.The sensitivity,specifici-ty,PPV,and NPV of candidate genes for screening CH were 30.77％,99.87％,15.38％,and 99.87％,respectively.The sensitivity,specificity,PPV,and NPV of the combination of TSH and candidate genes for screening CH were 100％,99.09％,7.88％,and 100％,respectively.The primary mutant gene in the samples with positive candidate genes was DUOX2(85.71％),mainly point muta-tions,among which the c.1588A>T variant was the most common(16.67％).PAX8(14.29％)was the second most common variation,and all of the variation point were c.280G>A.No positive samples for the pathogenic variants of DUOXA2,TSHR,PROP1,TPO,and TG were detected.Conclusion The combined screening of TSH and candidate genes helps to improve the screening efficacy of CH.The genetic etiology of CH in Nanjing area may be mainly the variation of DUOX2 and PAX8 genes.

Objective:To explore the influence of cardiac rehabilitation therapy on the postoperative quality of life, cardiac function and prognosis of patients undergoing transcatheter aortic value replacement (TAVR).Methods:A total of 182 patients with aortic valve stenosis who underwent TAVR in the Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2021 to May 2023 were selected as the research subjects. The patients were divided into the observation group and the control group by the random number table method, with 91 cases in each group. The control group was given conventional drug treatment after the operation, while the observation group was given conventional drug treatment + cardiac rehabilitation treatment after the operation. The baseline clinical data, quality of life before and after intervention (Minnesota Quality of Life Scale score), cardiac function [6-minute walking distance (6MWT), B-type brain natriuretic peptide (BNP)] of the two groups of patients were compared. The left ventricular ejection fraction (LVEF), left ventricular end-systolic diameter (LVESD), left ventricular end-diastolic diameter (LVEDD), and the incidence of adverse events one year after TAVR were evaluated using the Cox regression model to assess the effect of cardiac rehabilitation therapy on the occurrence of adverse events one year after TAVR. Kaplan-Meier survival analysis was used to compare the cumulative rate of no adverse events one year after TAVR in the two groups of patients.Results:After the intervention in both groups, the Minnesota Quality of Life Scale score, 6MWT, BNP, and LVEF were significantly improved compared with those before the intervention (all P<0.05), and the Minnesota Quality of Life Scale score, 6MWT, BNP, and LVEF in the observation group after the intervention were better than those in the control group (all P<0.05). The incidences of stroke and heart failure in the observation group one year after TAVR were significantly lower than those in the control group (all P<0.05). Cox regression analysis showed that cardiac rehabilitation significantly reduced the risk of adverse events one year after TAVR in patients ( HR: 0.72; 95% CI: 0.46-0.97; P=0.035). Kaplan-Meier survival analysis showed that the cumulative rate of no adverse events at 3, 6, and 12 months after TAVR in the observation group was significantly higher than that in the control group (94.3%, 89.5%, 76.8% vs 83.4%, 74.6%, 57.8%, all P<0.05). Conclusions:Cardiac rehabilitation therapy can significantly improve the postoperative quality of life and cardiac function of patients with TAVR, bringing obvious survival benefits to such patients.

Objective:To compare the clinical efficacy and analyze the surgical approach differences using CT parameters between mini-open transforaminal lumbar interbody fusion (MO-TLIF) and minimally invasive surgery of transforaminal lumbar interbody fusion (MIS-TLIF) in the treatment of degenerative lumbar diseases.Methods:A total of 68 consecutive patients with degenerative lumbar diseases undergoing surgery at the Second Affiliated Hospital of Soochow University from January 2022 to January 2023 were randomized into the MO-TLIF group (34 cases, percutaneous screw-assisted posterior midline MO-TLIF) and the MIS-TLIF group (34 cases, Wiltse approach MIS-TLIF using the Quadrant channel). Perioperative indicators (operative time, incision length, intraoperative blood loss, fluoroscopy frequency, postoperative bedrest duration, and hospital stay) and complications were compared. Visual analogue scale (VAS) and Oswestry disability index (ODI) were assessed preoperatively and at 3 days, 3 months, and 1 year postoperatively. Effective cross-sectional area (eCSA) of paraspinal muscles was evaluated on MRI preoperatively and 1 year postoperatively. CT parameters of surgical approaches, including spinous process-midline distance (SM), Wiltse-midline distance (WM), surgical approach angle, depth, and multifidus muscle displacement were compared. Pearson correlation and multivariate linear regression analyses were performed to explore associations between CT parameters, operative time, blood loss, and eCSA atrophy.Results:Baseline characteristics showed no significant differences between groups ( P>0.05). The MO-TLIF group exhibited shorter operative time (109.85±7.82 min vs. 133.82±20.22 min), reduced blood loss (77.21±21.83 ml vs. 141.18±31.44 ml), smaller incision length (6.09±0.22 cm vs. 7.00±0.43 cm), shorter bedrest duration (1.59±0.49 d vs. 2.38±0.50 d), and shorter hospital stay (8.93±1.44 d vs. 10.35±1.45 d), but higher fluoroscopy frequency (19.53±1.92 times vs. 16.29±1.78 times) compared to the MIS-TLIF group ( P<0.05). Complications included fat liquefaction (5 cases) and dural tears (2 cases). Both groups showed improved VAS and ODI postoperatively ( P<0.05). At 3 d postoperatively, the MO-TLIF group had lower VAS (2.74±0.47 points vs. 3.35±0.48 points) and ODI (27.46%±2.16% vs. 30.42%±2.52%) than the MIS-TLIF group ( P<0.05). Postoperative eCSA decreased significantly in the MIS-TLIF group ( P<0.05) but remained stable in the MO-TLIF group ( P>0.05). The MO-TLIF group demonstrated smaller SM (8.43±1.81 mm vs. 31.15±6.53 mm), approach angle, depth, and muscle displacement ( P<0.05). CT parameters in the MO-TLIF group showed no correlation with operative time, blood loss, or eCSA atrophy ( r<0.3, P>0.05), whereas parameters in the MIS-TLIF group correlated positively with these outcomes (0.3< r<0.6, P<0.05). Multivariate regression revealed a significant association between CT parameters and eCSA atrophy in the MIS-TLIF group ( R 2=0.474, P<0.05). Conclusion:Compared to MIS-TLIF, MO-TLIF reduces intraoperative blood loss, accelerates recovery, and minimizes paraspinal muscle trauma.

Cultivating intern's doctor-patient communication skills is crucial for fostering a patient-centered approach in medical practice.This process helps to overcome information gaps,cognitive and ideological barriers,and trust between doctors and patients,thereby laying a strong foundation for the interns' future careers.Clinical internships encompass several stages where doctor-patient communication is emphasized:during the preparation phase,while collecting medical history,throughout the treatment process,and before and after surgical procedures.Key strategies for developing these skills include clearly defining es-sential communication components,engaging in diverse communication practice activities,leveraging the guidance of instructors,and enhancing assessment,and evaluation mechanisms for communication skills.

Objective:To explore the influence of cardiac rehabilitation therapy on the postoperative quality of life, cardiac function and prognosis of patients undergoing transcatheter aortic value replacement (TAVR).Methods:A total of 182 patients with aortic valve stenosis who underwent TAVR in the Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2021 to May 2023 were selected as the research subjects. The patients were divided into the observation group and the control group by the random number table method, with 91 cases in each group. The control group was given conventional drug treatment after the operation, while the observation group was given conventional drug treatment + cardiac rehabilitation treatment after the operation. The baseline clinical data, quality of life before and after intervention (Minnesota Quality of Life Scale score), cardiac function [6-minute walking distance (6MWT), B-type brain natriuretic peptide (BNP)] of the two groups of patients were compared. The left ventricular ejection fraction (LVEF), left ventricular end-systolic diameter (LVESD), left ventricular end-diastolic diameter (LVEDD), and the incidence of adverse events one year after TAVR were evaluated using the Cox regression model to assess the effect of cardiac rehabilitation therapy on the occurrence of adverse events one year after TAVR. Kaplan-Meier survival analysis was used to compare the cumulative rate of no adverse events one year after TAVR in the two groups of patients.Results:After the intervention in both groups, the Minnesota Quality of Life Scale score, 6MWT, BNP, and LVEF were significantly improved compared with those before the intervention (all P<0.05), and the Minnesota Quality of Life Scale score, 6MWT, BNP, and LVEF in the observation group after the intervention were better than those in the control group (all P<0.05). The incidences of stroke and heart failure in the observation group one year after TAVR were significantly lower than those in the control group (all P<0.05). Cox regression analysis showed that cardiac rehabilitation significantly reduced the risk of adverse events one year after TAVR in patients ( HR: 0.72; 95% CI: 0.46-0.97; P=0.035). Kaplan-Meier survival analysis showed that the cumulative rate of no adverse events at 3, 6, and 12 months after TAVR in the observation group was significantly higher than that in the control group (94.3%, 89.5%, 76.8% vs 83.4%, 74.6%, 57.8%, all P<0.05). Conclusions:Cardiac rehabilitation therapy can significantly improve the postoperative quality of life and cardiac function of patients with TAVR, bringing obvious survival benefits to such patients.

Cultivating intern's doctor-patient communication skills is crucial for fostering a patient-centered approach in medical practice.This process helps to overcome information gaps,cognitive and ideological barriers,and trust between doctors and patients,thereby laying a strong foundation for the interns' future careers.Clinical internships encompass several stages where doctor-patient communication is emphasized:during the preparation phase,while collecting medical history,throughout the treatment process,and before and after surgical procedures.Key strategies for developing these skills include clearly defining es-sential communication components,engaging in diverse communication practice activities,leveraging the guidance of instructors,and enhancing assessment,and evaluation mechanisms for communication skills.

Objective:To compare the clinical efficacy and analyze the surgical approach differences using CT parameters between mini-open transforaminal lumbar interbody fusion (MO-TLIF) and minimally invasive surgery of transforaminal lumbar interbody fusion (MIS-TLIF) in the treatment of degenerative lumbar diseases.Methods:A total of 68 consecutive patients with degenerative lumbar diseases undergoing surgery at the Second Affiliated Hospital of Soochow University from January 2022 to January 2023 were randomized into the MO-TLIF group (34 cases, percutaneous screw-assisted posterior midline MO-TLIF) and the MIS-TLIF group (34 cases, Wiltse approach MIS-TLIF using the Quadrant channel). Perioperative indicators (operative time, incision length, intraoperative blood loss, fluoroscopy frequency, postoperative bedrest duration, and hospital stay) and complications were compared. Visual analogue scale (VAS) and Oswestry disability index (ODI) were assessed preoperatively and at 3 days, 3 months, and 1 year postoperatively. Effective cross-sectional area (eCSA) of paraspinal muscles was evaluated on MRI preoperatively and 1 year postoperatively. CT parameters of surgical approaches, including spinous process-midline distance (SM), Wiltse-midline distance (WM), surgical approach angle, depth, and multifidus muscle displacement were compared. Pearson correlation and multivariate linear regression analyses were performed to explore associations between CT parameters, operative time, blood loss, and eCSA atrophy.Results:Baseline characteristics showed no significant differences between groups ( P>0.05). The MO-TLIF group exhibited shorter operative time (109.85±7.82 min vs. 133.82±20.22 min), reduced blood loss (77.21±21.83 ml vs. 141.18±31.44 ml), smaller incision length (6.09±0.22 cm vs. 7.00±0.43 cm), shorter bedrest duration (1.59±0.49 d vs. 2.38±0.50 d), and shorter hospital stay (8.93±1.44 d vs. 10.35±1.45 d), but higher fluoroscopy frequency (19.53±1.92 times vs. 16.29±1.78 times) compared to the MIS-TLIF group ( P<0.05). Complications included fat liquefaction (5 cases) and dural tears (2 cases). Both groups showed improved VAS and ODI postoperatively ( P<0.05). At 3 d postoperatively, the MO-TLIF group had lower VAS (2.74±0.47 points vs. 3.35±0.48 points) and ODI (27.46%±2.16% vs. 30.42%±2.52%) than the MIS-TLIF group ( P<0.05). Postoperative eCSA decreased significantly in the MIS-TLIF group ( P<0.05) but remained stable in the MO-TLIF group ( P>0.05). The MO-TLIF group demonstrated smaller SM (8.43±1.81 mm vs. 31.15±6.53 mm), approach angle, depth, and muscle displacement ( P<0.05). CT parameters in the MO-TLIF group showed no correlation with operative time, blood loss, or eCSA atrophy ( r<0.3, P>0.05), whereas parameters in the MIS-TLIF group correlated positively with these outcomes (0.3< r<0.6, P<0.05). Multivariate regression revealed a significant association between CT parameters and eCSA atrophy in the MIS-TLIF group ( R 2=0.474, P<0.05). Conclusion:Compared to MIS-TLIF, MO-TLIF reduces intraoperative blood loss, accelerates recovery, and minimizes paraspinal muscle trauma.

OBJECTIVE: To analyze the carrier rates and profiles of pathogenic and likely pathogenic variants for hearing loss-related genes MYO7A, PCDH15, and CDH23 among neonates in Nanjing city through targeted next-generation sequencing (NGS). METHODS: Heel-prick blood samples were collected from 30 043 newborns delivered at Nanjing Women and Children's Health Care Hospital between March 2022 and April 2024. Dried blood spots were prepared, and genomic DNA was extracted. Targeted NGS was applied to detect variants across the full coding regions of the MYO7A, PCDH15, and CDH23 genes. The carrier rates and profiles of pathogenic and likely pathogenic variants of the three genes were analyzed. This study was approved by the Medical Ethics Committee of Nanjing Maternal and Child Health Care Hospital (Ethics No.: 2021KY-071). RESULTS: The carrier rates of pathogenic and likely pathogenic variants (with ≥ 1 variant site) for the MYO7A, PCDH15, and CDH23 genes were 0.340%, 0.226%, and 0.156%, respectively. A total of 65, 49, and 30 variant types were detected in the MYO7A, PCDH15, and CDH23 genes, respectively. For MYO7A, single base variants were predominant, with the most common variant being c.5581C>T, followed by c.1343+1G>A, c.2837T>G, and c.5660C>T, with allelic frequencies of 0.013% (8/60 086), 0.007% (4/60 086), 0.007% (4/60 086), and 0.007% (4/60 086), respectively. PCDH15 variants were mainly deletions, with the most common variant site being c.4699_4715dupAGAGAAAAGATTCAGAG, followed by c.3441delA, c.440T>G, and c.4733_4736delTCAG, with allelic frequencies of 0.015% (9/60 086), 0.005% (3/60 086), 0.005% (3/60 086), and 0.005% (3/60 086), respectively. For CDH23, single base variants were predominant, with c.6604G>A being the most common, followed by c.6085C>T, c.6050+9G>A, and c.6253+1G>A, with allelic frequencies of 0.013% (8/60 086), 0.012% (7/60 086), 0.005% (3/60 086), and 0.005% (3/60 086). CONCLUSION This study analyzed the carrier rates and profiles of pathogenic and likely pathogenic variants of the MYO7A, PCDH15, and CDH23 genes, which can provide more evidence for the prevention and management of deafness in the region.
Humans ; Cadherins/genetics* ; High-Throughput Nucleotide Sequencing/methods* ; Infant, Newborn ; Female ; Myosin VIIa/genetics* ; Cadherin Related Proteins ; Male ; Hearing Loss/genetics* ; Myosins/genetics* ; Heterozygote

Bacillus is a class of spore-producing Gram-positive bacteria that produce a variety of antimicrobial substances with different structures and functions. The application of the antimicrobial substances produced by Bacillus can effectively inhibit the activity of harmful bacteria and fungi and promote the sustainable development of green agriculture. The antimicrobial substances produced by Bacillus mainly include proteins, lipopeptides, polyketones, and polypeptides. This paper reviews the synthesis gene clusters, synthesis pathways, structures, and mechanisms of various antimicrobial substances produced by Bacillus and discusses the challenges in the industrial application of these antimicrobial substances. Furthermore, this paper clarifies the future research and development focuses and prospects the application prospects, and provides comprehensive theoretical support for the in-depth research and wide application of the antimicrobial substances produced by Bacillus.
Bacillus/genetics* ; Anti-Infective Agents/metabolism* ; Bacterial Proteins/genetics* ; Antimicrobial Peptides/biosynthesis* ; Lipopeptides/biosynthesis*