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OBJECTIVE@#To explore the genetic basis for four Chinese pedigrees affected with Waardenburg syndrome (WS).@*METHODS@#Four WS probands and their pedigree members who had presented at the First Affiliated Hospital of Zhengzhou University between July 2021 and March 2022 were selected as the study subjects. Proband 1, a 2-year-and-11-month female, had blurred speech for over 2 years. Proband 2, a 10-year-old female, had bilateral hearing loss for 8 years. Proband 3, a 28-year-old male, had right side hearing loss for over 10 years. Proband 4, a 2-year-old male, had left side hearing loss for one year. Clinical data of the four probands and their pedigree members were collected, and auxiliary examinations were carried out. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Proband 1, with profound bilateral sensorineural hearing loss, blue iris and dystopia canthorum, was found to have harbored a heterozygous c.667C>T (p.Arg223Ter) nonsense variant of the PAX3 gene, which was inherited from her father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type I. Proband 2, with moderate sensorineural hearing loss on the right side and severe sensorineural hearing loss on the left side, has harbored a heterozygous frameshifting c.1018_1022del (p.Val340SerfsTer60) variant of the SOX10 gene. Neither of her parents has harbored the same variant. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4+PM6), and the proband was diagnosed with WS type II. Proband 3, with profound sensorineural hearing loss on the right side, has harbored a heterozygous c.23delC (p.Ser8TrpfsTer5) frameshifting variant of the SOX10 gene. Based on the ACMG guidelines, it was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II. Proband 4, with profound sensorineural hearing loss on the left side, has harbored a heterozygous c.7G>T (p.Glu3Ter) nonsense variant of the MITF gene which was inherited from his mother. Based on the ACMG guidelines, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4), and the proband was diagnosed with WS type II.@*CONCLUSION@#By genetic testing, the four probands were all diagnosed with WS. Above finding has facilitated molecular diagnosis and genetic counseling for their pedigrees.
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Female , Humans , Male , Deafness , East Asian People , Hearing Loss, Sensorineural/genetics , Mutation , Pedigree , Phenotype , Waardenburg Syndrome/diagnosisABSTRACT
Objective:To explore the application effect of micro-classes combined with flipped classrooms based on short videos and images in "early rehabilitation nursing of stroke patients with hemiplegia".Methods:A total of 70 nursing students who were interns in our department from June 2019 to April 2021 were selected as the research objects, among which, 35 nursing students who entered the department from June 2019 to March 2020 were selected as the control group, using traditional teaching, and 35 nursing students who entered the department from July 2020 to April 2021 were selected as the research group, adopting the micro-classes combined with flipped classrooms teaching based on short videos and images. After the teaching, the test scores of the two groups of students, the students' satisfaction with the teaching methods, their critical thinking ability and the students' autonomous learning ability were evaluated. SPSS 17.0 was used for independent-sample t test and paired-sample t test. Results:After the teaching, the theoretical scores and clinical practice assessment scores of the research group were better than those of the control group, and the difference was statistically significant ( P<0.05); the students in the research group were more satisfied with the teaching method than those in the control group. After the teaching, the scores of 7 dimensions of critical thinking ability of the students in the research group were higher than those of the students in the control group; the scores and total scores of 4 dimensions of the self-learning ability evaluation were higher in the research group than those in the control group. Conclusion:Micro-classes combined with flipped classrooms teaching based on short videos and images can improve the teaching effect of "early rehabilitation nursing for patients with stroke and hemiplegia".
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<p><b>OBJECTIVE</b>To develop a near-infrared fluorescence imaging system based on the fluorescence properties of methylene blue.</p><p><b>METHODS</b>According to the optical properties of methylene blue, we used a custom-made specific LED light source and an interference filter, a CCD camera and other relevant components to construct the near-infrared fluorescence imaging system. We tested the signal-to-background ratio (SBR) of this imaging system for detecting methylene blue under different experimental conditions and analyzed the SBR in urine samples collected from 15 Wistar rats with intravenous injection of methylene blue at the doses of 0, 1.4, 1.6, 1.8, or 2.0 0 mg/kg methylene blue.</p><p><b>RESULTS</b>The SBR of this imaging system for detecting methylene blue was affected by the concentration of methylene blue and the distance from the sample (P<0.05). In the urine samples from Wistar rats, the SBR varied with the the injection dose, and the rats injected with 1.6 mg/kg methylene blue showed the highest SBR (8.71∓0.20) in the urine (P<0.05).</p><p><b>CONCLUSION</b>This near-infrared fluorescence imaging system is useful for fluorescence detection of methylene blue and can be used for real-time recognition of ureters during abdominal surgery.</p>
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<p><b>OBJECTIVE</b>To investigate the differences in dielectric properties (relative permittivity and conductivity) between the mucosal surface and serosal surface of malignant colorectal tissues, adjacent tissues at 1 cm and 3 cm from the tumor focus and normal colorectal tissues.</p><p><b>METHODS</b>The dielectric properties of the mucosal and serosal surface of malignant colorectal tissues, adjacent tissues (1 cm and 3 cm) and normal colorectal tissues from 39 patients with colorectal cancer were measured with an open-ended coaxial probe within the frequency range of 50 MHz-3 GHz, and the corresponding dielectric properties were analyzed respectively; statistical tests of the data were used to analyze the dielectric properties at 6 specific frequency points.</p><p><b>RESULTS</b>The dielectric properties were significantly higher in the malignant mucosa surface than in the adjacent tissues and normal colorectal tissues at the 6 specific frequency points (P<0.01). The dielectric properties decreased progressively in adjacent tissues at 1 cm and 3 cm and normal mucosa surface. The mucosal and serosal surface of malignant tissues showed significant differences in dielectric properties at 64 MHz, 128 MHz, 298 MHz, 433 MHz, and 915 MHz (P<0.01) but not at 2450 MHz (P>0.01), but such differences were not observed in normal tissues (P>0.01).</p><p><b>CONCLUSION</b>The dielectric properties of the mucosal surface of the mucosal decrease in the order of malignant colorectal tissue, adjacent tissues at 1 cm and 3 cm from the tumor foci and normal colorectal tissues. The dielectric properties are higher in the mucosal surface than in the serosal surface in the malignant tissue, but comparable in normal colorectal tissues.</p>
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Objective: To investigate the current situation of stress ulcer prevention in patients with orthopedic joint replacement in our hospital and explore the necessity of preventing bleeding of peptic ulcer in patients with hip/knee replacement. Methods: The ca-ses of hip/knee replacement discharged from our hospital in September 2017 were retrospectively analyzed. The age and gender of the patients were analyzed. The underlying medical conditions, the related laboratory indices and the uses of stress ulcer prevention drugs, analgesic and anticoagulation drugs were statistically analyzed. Results: A total of 109 cases were collected including 40 cases of hip replacement and 69 cases of knee replacement. The median of age was 63. The use rate of non-steroidal analgesic drugs was 98. 16% , that of deep venous thrombosis prevention drugs was 95. 4% , and that of stress ulcer prevention drugs was 67. 9% . No patient suffered from gastrointestinal bleeding. Conclusion: The majority of patients undergoing hip /knee replacement are the elderly, and the knee replacement patients are older with more operation duration and more bleeding during the hip replacement. Nonsteroidal anti-inflamma-tory drugs and the drugs for preventing deep venous thrombosis are widely used during perioperative period. At present, it is still uncer-tain whether the population needs regular prevention of stress ulcers. However, the combination of aspirin and NSAID is a risk factor. The other high-risk factors, as well as the necessity of prevention medication, still need to be investigated in a larger scale.
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OBJECTIVE: To investigate the local release and blood levels of etimicin from etimicin-loaded bone cement (ELBC) implants and their nephrotoxicity in rabbits. METHODS: Handmade cylindrical ELBC implants were quantitatively prepared and surgically implanted in rabbit femoral medullary cavity. The drug concentrations in local bone and surrounding tissues were determined. Blood levels of drug released from ELBC implants were determined at different time intervals post-implantation. The pharmacokinetic parameters of ELBC implants were calculated by using Phoenix WinNonlin 6.3 software. Blood urea nitrogen and serum creatinine in rabbits were determined using automatic biochemistry analyzer before and after drug administration to assess the nephrotoxicity. RESULTS: The major pharmacokinetic parameters of ELBC implants were as follows; t1/2 (13.2±4.71) h; tmax (4.44±0.88) h; ρmax (7163.153±1673.618) ng·mL-1. The drug concentrations of ELBC implants in local bone marrow were (226.14±60.20), (16.00±11.40), and (5.98±1.97) μg·g-1 after implantation for 1, 2, and 4 weeks, respectively. The corresponding concentrations of drug in the cortex of bone tissues were (54.68±36.98), (3.95±1.73), and (1.39±0.77) μg·g-1, respectively. The levels of blood urea nitrogen and serum creatinine had no significant change after the treatment of ELBC implants. CONCLUSION: Compared with intramuscular injection, ELBC implants result in sustained drug release, maintain drug concentration in local tissues higher than the minimum inhibitory concentration against most infectious bacteria for at least one month, and display lower nephrotoxicity, indicating a good prospect for clinical use.
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OBJECTIVE: To analyze the bacterial distribution of secretions in post-traumatic cases with bone infections and summarize the drug treatments in practice, thus to provide reference for treatment of bone infections. METHODS: The clinical data of traumatic patients with positive secretion cultures were collected from January to October in 2012. RESULTS: Eighty-one cases of positive secretion cultures were selected, of whom 57 (70.37%) patients had single bacteria infection, 24 (29.62%) cases had mixed infections. Staphylococcus aureus, coagulase-negative staphylococci, enterobacter cloacae, escherichia coli and pseudomonas aeruginosa were common pathogens. All the patients underwent surgical treatment and intravenous antibiotic therapy during hospitalization. Nineteen cases were implanted with antibiotic bone cement and 2 cases received local lavation. CONCLUSION: Post-traumatic bone infections are mostly caused by single bacteria and Gram-positive bacteria. Topical antibiotic bone cement treatment has become an effective treatment for bone infections.
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Objective To evaluate the clinical effect and complications of total hip replacement (THR) in novel femoral neck fracture,old femoral neck fracture, aseptic necrosis of femoral head and coxa degenerative osteoarthropathy. To provide instructions to surgical indications and treatment effects analysis.Methods One hundrde and four patients were divided into 4 groups by disease type: novel femoral neck fracture group (n = 32 ), old femoral neck fracture group (n = 22) ,aseptic necrosis of femoral head group (n =34) and coxa degenerative osteoarthropathy group (n = 16). These patients were followed-up for 12 - 144 months after THR, their Harris standard score and complications data, before and after operation, were analyzed retrospectively. Results After operation, the Harris standard scores were 92. 6 ± 5.8,90. 1 ± 5. 2,86. 3 ± 4. 6,81.9 ±4. 1 in novel femoral neck fracture,old femoral neck fracture,aseptic necrosis of femoral head and coxa degenerative osteoarthropathy groups respectively, which were significantly higher than the scores before operation (25.6±1.8,36.7±2.6,52.9±4.3,42. 1 ±3.8,Ps ＜0.05). Conclusion THR has good effects in the four types of diseases. Short length of stay and high healing rate are marked characteristics of THR. More attention shoud be paid to the complications of THR.
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Objective To understand the changing trends of non-communicable diseases (NCDs) in Xinjiang Production and Construction Corps from 1998 to 2008.Methods A stratified-cluster random sampling based cross-sectional NCDs survey was carried out in 2008,and using the data of NCDs from the health service surveys in 1998 and 2004,in Xinjiang Production and Construction Corps.The prevalence rate of NCDs was standardization according to age proportion of the population being surveyed in 1998.Results In 1998,2004 and 2008,the prevalence rates of NCDs in Xinjiang Production and Construction Corps were 17.26%,25.61%,24.85% while the Standardized rates of NCDs were 17.26%,23.54% and 20.49% respectively.The prevalence rates of NCDs were statistically significant different in 35-,45-,55- and over 65 age groups in 1998,2004 and 2008 which showed an consecutive upward trend.The prevalence rates of hypertension,diabetes,cerebrovascular disease,coronary heart disease and chronic obstructive pulmonary disease increased significantly from 1998 to 2008.The prevalence rate of hypertensive disease among 25- age group,diabetes among 35- age group,cerebrovascular disease and coronary heart disease among 45- age groups showed an increasing trend.Conclusion Cardiovascular and cerebrovaseular diseases,together with diabetes were the fastest increasing ones over the past 10 years and becoming the major diseases,making the Xinjiang Production and Construction Corps an aging population.NCDs should be prioritized in the health development plan.Targeted health education should be carried out in the whole population,together with other interventions as well as management programs on chronic diseases to reduce the prevalence of NCDs.
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OBJECTIVE:To study the judgment method of allergens in TCM decoction.METHODS:Judgment methods and thinking of suspected drugs in TCM decoction were summarized by analyzing clinical case and the literatures.RESULTS:The allergens in the TCM decoction can be found out using prescription analysis and patch test.Bioresonance system also can be applied to detect and analyze allergens in TCM decoction.CONCLUSION:TCM decoction can cause allergic reaction,and the allergens can be identified by comprehensive methods.
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<p><b>OBJECTIVE</b>To analyze the expression of DD3 mRNA in the prostate tissues.</p><p><b>METHODS</b>DD3 mRNA was detected by realtime fluorescent quantitative reverse transcription polymerase chain reaction (FQ-RT-PCR) based on the Taqman technique in the tissues of 27 patients with non-prostate cancer( NPCa), 21 prostate cancer( PCa), 39 benign prostatic hyperplasia (BPH) and 15 normal prostate (NP). The ROC curve was used to evaluate the diagnostic value of DD3 mRNA.</p><p><b>RESULTS</b>DD3 mRNA expression was not detected in the NPCa tissues. The median expressions of DD3 mRNA in PCa, BPH and NP tissues were 7. 2 x 10(6), 2. 5 x 10(4) and 1.5 x 10(4) copies/mg tissue, respectively. The DD3 mRNA expression levels were significantly different between nonmalignant and malignant tissues (P < 0.01). No significant differences in DD3 mRNA expression were detected between the NP and BPH tissues and no significant correlation was found between the DD3 mRNA expression and clinical pathological parameters. The AUC-ROC was 0.937 (95% CI: 0.879 - 0.995) at cutoff value 1.4 x 10(5) copies/mg tissue. The sensitivity, specificity, accuracy, positive predictive value, negative predictive value, positive likelihood ratio and negative likelihood ratio for DD3 were 90.5%, 85.0%, 86.7%, 76.0%, 94.3%, 6.03 and 0.11 respectively.</p><p><b>CONCLUSION</b>The DD3 mRNA expression is confined to prostate tissues and highly upregulated in PCa tissues. It has a potential application value in the early diagnosis of prostate cancer and the follow-up of the patient.</p>
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Aged , Aged, 80 and over , Humans , Male , Middle Aged , Antigens, Neoplasm , Genetics , Neoplasm Staging , Prostatic Hyperplasia , Metabolism , Pathology , Prostatic Neoplasms , Metabolism , Pathology , RNA, Messenger , Genetics , ROC Curve , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
OBJECTIVE:To probe into the quality of the package inserts of oral chemical drugs to lay a foundation for the further standardization of drug package inserts.METHODS:180 package inserts of oral chemical drugs current on market were selected and subjected to inspection in accordance with the Regulatory Guidelines for the Package Inserts of Drugs announced by SFDA as well as other related references to find out the problems existing in the package inserts,and a statistical analysis was conducted on the typical problems.RESULTS:Among the 180 package inserts,109(60.56%)had problems(totaled 167 defects)predominantly in drug name,storage,usage and dosage.CONCLUSION:It is urgent to improve the quality of the package inserts.