Objective To explore the intervention effect of the"5E"rehabilitation nursing model(Education,Encouragement,Evaluation,Exercise,and Employment)for patients with primary aldo-steronism(PA).Methods A total of 120 patients diagnosed as PA in the Cardiology Department of the Third People's Hospital of Qingdao from January 2022 to June 2024 were randomly divided into control group(n=60)and observation group(n=60).The control group received routine nursing in-tervention,while the observation group received the"5E"rehabilitation nursing intervention.Blood test indicators,clinical manifestations(blood pressure,fatigue level),score of quality of life,and nursing satisfaction rate were compared between the two groups.Results After intervention,blood so-dium,plasma aldosterone,blood creatinine,urea nitrogen,uric acid,systolic blood pressure,dias-tolic blood pressure,and scores of fatigue degree in the observation group were significantly lower than those in the control group,while blood potassium level and score of quality of life were significantly higher than those in the control group(P＜0.05).The nursing satisfaction rate in the observation group was 96.67％,which was significantly higher than 80.00％in the control group(P＜0.05).Conclusion Implementation of the"5E"rehabilitation nursing intervention during hospitalization for PA patients can improve their blood indicators and clinical symptoms,alleviate the severity of the dis-ease,and enhance their qualities of life.

Objective:To evaluate the relationship between preoperative serum bilirubin concentrations and postoperative delirium (POD) in the patients undergoing knee or hip replacement.Methods:Medical records from 413 patients undergoing knee or hip arthroplasty were selected from August 2020 to October 2023 at Qingdao Municipal Hospital using a nested case-control design based on the PNDABLE study cohort. The patients were divided into POD group ( n=77) and non-POD group ( n=336) according to whether POD occurred. Univariate analysis was used to analyze the influencing factors. Logistic regression was used to identify the risk factors for POD. The significance of mediation effect was tested. The receiver operating characteristic curve was drawn to evaluate the accuracy of risk factors in predicting POD. Results:There were significant differences in age, education time, ratio of diabetes history, Memorial Delirium Assessment Scale score, total bilirubin concentration, direct bilirubin concentration, indirect bilirubin concentration, Aβ 42 concentration, p-tau concentration, t-tau concentration, Aβ 42/p-tau ratio and Aβ 42/t-tau ratio between POD group and non-POD group ( P<0.05). The results of logistic regression analysis showed that preoperative serum total bilirubin, direct bilirubin and indirect bilirubin were risk factors for POD ( P<0.05). The results of mediation effects showed that the concentration of total tau protein in CSF partly mediated the relationship between high serum total bilirubin, direct bilirubin and indirect bilirubin concentrations and POD. The area under the receiver operating characteristic curve of total bilirubin, direct bilirubin and indirect bilirubin combined with CSF biomarker concentrations in predicting POD was 0.83 ( P<0.001). Conclusions:Preoperative elevated concentrations of total bilirubin, direct bilirubin and indirect bilirubin are risk factors for POD in the patients undergoing knee or hip replacement. CSF t-tau concentration has a partly mediating role in the association between serum total bilirubin, direct bilirubin and indirect bilirubin concentrations and the development of POD.

Objective:To investigate the study on the diagnostic value of multimodal ultrasound technique for the lesion of extensor carpi ulnaris(ECU)tendon in patients with rheumatoid arthritis(RA).Methods:A total of 175 RA patients who were confirmed by the department of rheumatology of Yantaishan Hospital of Yantai city from December 2021 to January 2023 were selected,and them were included into the RA group.Other 50 patients without RA but with clinical symptoms of wrist were included into the non-RA group,and 50 healthy volunteers were included into the healthy control group.All subjects underwent routine ultrasound and shear wave elastography(SWE)examination on wrist,and then,the characteristics of ultrasound images of wrists and the blood flow distribution of ECU power Doppler ultrasonography(PDUS)were recorded.SWE was used to measure ECU to obtain elastic modulus index(EI)and velocity modulus index(VI).The differences between three groups were compared,and the receiver operating characteristic(ROC)value of RA patients were drawn,so as to confirm the area under curve(AUC)value and optimize cutoff value.Results:There were significant differences in EI and VI of the ECU tendon among three groups(F=61.15,61.28,P<0.05),respectively.The optimal cut-off values of EI and VI were respectively 319.35 kPa and 10.55 m/s in RA patients.In RA patients,age and disease course had significant influences on EI(r=0.19,0.21,P<0.05),and age,disease course,ultrasound score of wrist joint,and grade of power Doppler ultrasonography PDUS of the ECU tendon(ECUPDUS)had significant influences on VI(r=0.19,0.15,-0.16,-0.17,P<0.05).Conclusion:SWE is able to quantitatively and non-invasively assess the stiffness information of the ECU tendon in RA patients.After the supplement of gray-scale ultrasound and PDUS,multimodal ultrasound technique can clearly judge the correlation of the lesions of ECU tendon of RA patients.

OBJECTIVE: To prepare a quality control sample for non-invasive prenatal screening (NIPS) and evaluate its quality and stability. METHODS: According to the biological characteristics of cell-free fetal DNA derived from the plasma of pregnant women, the simulated samples were prepared by mixing genomic DNA fragments derived from individuals with trisomy 21, trisomy 18 and trisomy 13 and background plasma. The samples were then compared with commercially made quality control products tested on various NIPS platforms and stored at -80℃, -20℃, 4℃, 24℃ and 37℃ for various periods of time. RESULTS: The simulated samples have attained the expected results and could be detected on various platforms and stored at -80℃and -20℃ for at least 30 days. CONCLUSION A simulated sample was successfully prepared and possessed good stability. It can be used as the quality control sample for NIPS.
Aneuploidy ; Down Syndrome/genetics* ; Female ; Humans ; Noninvasive Prenatal Testing ; Pregnancy ; Prenatal Diagnosis ; Trisomy/genetics*

Background: The poor bioadhesion capacity of tilmicosin resulting in treatment failure for Staphylococcus aureus small colony variants (SASCVs) mastitis. Objectives: This study aimed to increase the bioadhesion capacity of tilmicosin for the SASCVs strain and improve the antibacterial effect of tilmicosin against cow mastitis caused by the SASCVs strain. Methods: Tilmicosin-loaded chitosan oligosaccharide (COS)-sodium carboxymethyl cellulose (CMC) composite nanogels were formulated by an electrostatic interaction between COS (positive charge) and CMC (negative charge) using sodium tripolyphosphate (TPP) (ionic crosslinkers). The formation mechanism, structural characteristics, bioadhesion, and antibacterial activity of tilmicosin composite nanogels were studied systematically. Results: The optimized formulation was comprised of 50 mg/mL (COS), 32 mg/mL (CMC), and 0.25 mg/mL (TPP). The size, encapsulation efficiency, loading capacity, polydispersity index, and zeta potential of the optimized tilmicosin composite nanogels were 357.4 ± 2.6 nm, 65.4 ± 0.4%, 21.9 ± 0.4%, 0.11 ± 0.01, and -37.1 ± 0.4 mV, respectively; the sedimentation rate was one. Scanning electron microscopy showed that tilmicosin might be incorporated in nano-sized crosslinked polymeric networks. Moreover, adhesive studies suggested that tilmicosin composite nanogels could enhance the bioadhesion capacity of tilmicosin for the SASCVs strain. The inhibition zone of native tilmicosin, tilmicosin standard, and tilmicosin composite nanogels were 2.13 ± 0.07, 3.35 ± 0.11, and 1.46 ± 0.04 cm, respectively. The minimum inhibitory concentration of native tilmicosin, tilmicosin standard, and tilmicosin composite nanogels against the SASCVs strain were 2, 1, and 1 µg/mL, respectively. The in vitro time-killing curves showed that the tilmicosin composite nanogels increased the antibacterial activity against the SASCVs strain. Conclusions This study provides a potential strategy for developing tilmicosin composite nanogels to treat cow mastitis caused by the SASCVs strain.

OBJECTIVE: To analyze the characteristics of lysosomal enzymes in mucolipidosis (ML) type II α/β and type III α/β for the choice of enzyme evaluating indicators. METHODS: Multiple lysosomal enzymes including α-iduronidase (IDUA), α -N-acetylglucosaminidase (NAGLU), β-galactosidase-1 (GLB1), β-glucuronidase (GUSB), α-galactosidase A (GLA), glucocerebrosidase (GBA) and arylsulphatase A (ASA) in plasma and leukocyte of two Chinese pedigrees with ML type II α/β and type III α/β and healthy controls were determined. Previous publications on ML type II α/β and type III α/β during the last five years were retrieved from PubMed, CNKI and WanFang databases by using "mucolipidosis" as key word. RESULTS: The activities of several lysosomal enzymes were increased in the plasma of both patients: ASA, IDUA (20-fold) > GUSB (10-fold) > GLB1, GLA (5-fold) > NAGLU (2-fold), whilst there was no significant change in GBA. The activities of several lysosomal enzymes in the leukocyte of the two patients were normal. 15 lysosomal enzymes have been used in 22 previous studies, the most frequently used were hexosaminidase A and B (Hex A+B) (12 papers), α-mannosidase (α-man) (11 papers) and GUSB (10 papers). The degree of Hex A+B and α-man elevation was most obvious (24.4-fold and 24.7-fold on average respectively), followed by ASA (22.4-fold on average), GUSB is 18.8-fold on average. CONCLUSION Based on the lysosomal enzyme analysis of the two cases and literature review, ASA, GUSB, Hex A+B and α-man are recommended as the evaluating indicators for lysosomal enzyme analysis of ML type II α/β and type III α/β.
China ; Hexosaminidase A ; Humans ; Iduronidase ; Lysosomes ; Mucolipidoses/genetics* ; Pedigree

OBJECTIVE: To assess the value of next-generation sequencing-based copy number variation sequencing (CNV-seq) for the detection of copy number variations (CNVs) in prenatal diagnosis. METHODS: The results of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis from May 2018 to December 2020 were reviewed. Selected cases of CNVs of clinical significance or low-percentage mosaic aneuploidies were included. Preserved DNA samples of amniotic fluid DNA were detected by CNV-seq. The results of CNV-seq and CMA were analyzed. RESULTS: A total of 16 488 data of SNP-array were re-analyzed, and 343 DNA samples were selected for the CNV-seq assay. All samples were successfully analyzed. Compared with the SNP-array, the proportion of full concordance, partial concordance and missed detection was 91.5% (314/343), 1.2% (4/343) and 7.3% (25/343), respectively. The non-detection zones of CNV-seq were confirmed, which have encompassed the SHOX gene and AZFc region. CONCLUSION With a high accuracy and wide genome-wide coverage, CNV-seq is worthy for a wide application in prenatal diagnosis, though the limitation of testing should be taken into consideration, and the appropriate prenatal diagnosis method should be selected for different populations to reduce the occurrence of birth defects.
Aneuploidy ; DNA ; DNA Copy Number Variations ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Pregnancy ; Prenatal Diagnosis/methods*

The standardized medical genetics residency training in China has started late and differed from foreign training systems with no ready-made experience for reference. Started from 2014, the development of medical genetics residency training has encountered difficulties in enrollment, poor basic knowledge, and difficulties in completing the training tasks. Through a series of teaching reforms such as to offer elective courses to undergraduates, employment of flexible and diverse teaching forms such as MOOC, provision of high simulation amniocentesis model for professional skill training, and establishment of a sound teacher training system, our institution has expanded the choice for medical students' career direction and improved the core competency of medical genetics residency trainees.
Humans ; Female ; Pregnancy ; Internship and Residency ; Genetics, Medical ; Amniocentesis ; China ; Computer Simulation

Clinical practice of Medical Genetics involves application of various genetic techniques for the diagnosis of genetic disorders and subsequent genetic counseling and treatment. The principles of Medical Ethics must be fully taken into account when applying genetic knowledge for medical practice. Medical Ethics education is therefore essential for the standardized training of resident doctors in medical genetics department. With a basic system of Medical Genetics Physician Training established, our hospital has made a preliminary exploration for the development of Medical Ethics teaching in resident training through various teaching practices including seminar, network teaching, case study, scene teaching and outpatient teaching, with an aim to strengthen Medical Ethnics knowledge, professionalism and communication skills, and implement Medical Ethics principles throughout clinical practice.
Curriculum ; Educational Status ; Ethics, Medical ; Genetics, Medical ; Humans

OBJECTIVE: To derive more sensitive and accurate Z-scores for noninvasive prenatal testing of fetal trisomies based on a combined DNA count- and size- algorithm. METHODS: One hundred eighty women at a high risk for fetal aneuploidies underwent amniocentesis. An effective cut-off value for DNA size ratio was explored. Conventional count-based Z-scores and size ratio-corrected Z scores were calculated. The reliability of each Z-score was assessed through comparison with the results of cytogenetic analysis. RESULTS: With the cut-off value set as 150 bp, the ratio of small DNA is positively correlated with the proportion of fetal DNA. The sensitivity and specificity of conventional count-based Z-scores were 75.00%, and 98.86%, respectively. This rate has increased to nearly 100% with a count-based 150 bp size correction. CONCLUSION Compared with count-based methods alone, count-based Z-scores with 150 bp size correction may better predict fetal trisomies.