Objective:To analyze the costs and effectiveness of five common screening modes and genetic screening for thalassemia in China in order to find the optimal way and provide evidence for the implementation of thalassemia prevention and control projects in Hunan Province.Methods:From June 2020 to April 2021, 12 971 couples from 14 cities and autonomous prefectures in Hunan Province were selected as the study population. The diagnosis of thalassemia was based on the results of genetic testing. Results of routine blood test and hemoglobin electrophoresis were collected and analyzed. The efficacy of five screening modes, at the cut-off value of <80 fl or 82 fl for the mean corpuscular volume (MCV), was analyzed by positive predictive value, negative predictive value, Jorden index and cost-effectiveness ratio. Sensitivity analysis was used to assess the feasibility of genetic screening at different costs after fixing the costs of routine blood and hemoglobin electrophoresis. The five thalassemia screening models are as follows: Mode 1: The woman had a blood routine test first. If the result was positive, the spouse required a blood routine test. If both results were positive, a thalassemia gene test should be offered to the couple. Mode 2: Both husband and wife were screened by blood routine and hemoglobin electrophoresis. If one or both of them were positive, both would be tested for thalassemia gene. Mode 3: The couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing. Mode 4: The woman was screened by blood routine and hemoglobin electrophoresis. If any one of them was positive, the woman would be tested for thalassemia gene. If the gene test result was positive, the spouse should receive thalassemia gene. Mode 5: Both spouses conducted a blood routine test. If either was positive, both would conduct hemoglobin electrophoresis test. If both were positive, both spouses should receive thalassemia gene testing. Gene testing mode: The woman would be tested for thalassemia, and her spouse would have thalassemia test too if her result was positive.Results:When using MCV<80 fl as the cut-off for diagnosing thalassemia, the Youden indices of the five prenatal screening modes in Hunan Province were 0.551, 0.639, 0.898, 0.555 and 0.356, while when using MCV<82 fl as the cut-off, the Youden indices were 0.549, 0.629, 0.851, 0.548 and 0.356. When the MCV cut-off value was <80 fl, the missed diagnosis rates of the five screening modes were 44.44%, 0.00, 0.00, 18.52% and 62.96%, and the cost-effectiveness ratios were 21 709, 250 939, 76 870, 138 463 and 92 860 yuan (RMB)/couple, respectively. When the price of genetic testing was lower than 55 yuan (RMB), the cost-effectiveness ratio of genetic screening was lower than that of Mode 3.Conclusions:MCV<80 fl can be considered as the positive criteria in blood routine screening for thalassemia in Hunan Province, and the cost-effectiveness ratio of Mode 3 (the couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing) is the best. Genetic screening has certain advantages with the decreasing price.

This article takes the setting of children's rehabilitation specialty in the rehabilitation therapy of Xiamen Medical College as an example, and expounds that in the process of cultivating talents in children's rehabilitation, theoretically, a training model of "2.5+0.5+1" has been built closely around the training goals of "solid foundation, wide caliber and strong skills", highlighting basic pediatric courses, core skills courses for children's rehabilitation therapy and special courses for children's rehabilitation. In practice, the training of "early clinical practice and early probation" for children's rehabilitation skills is stressed. The results show that students have greatly improved their professional knowledge and practical ability, and the effect of "early clinical practice and early probation" is obvious. Among the students who choose the direction of children's rehabilitation, 95% of the students want to engage in the career of children's rehabilitation and believe that the curriculum system will be of great help to their future employment.

OBJECTIVE: To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency. METHODS: Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing. RESULTS: The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her parents were both heterozygous carriers. CONCLUSION The homozygous c.905G>A (p.Arg302Gln) variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child. Above result has enabled genetic counseling and prenatal diagnosis for this family.
Amidohydrolases/genetics* ; Asian Continental Ancestry Group/genetics* ; Child ; Exons ; Female ; Humans ; Metabolism, Inborn Errors/genetics* ; Mutation ; Pedigree

Objective? To compare the evaluation result of 10 symptoms including poor appetite in cancer patients during chemotherapy from the patients and their nurses, in order to improve the assessment and judgment ability of the responsible nurses on the symptoms of patients undergoing chemotherapy through the analysis of the result. Methods? The study was performed in the chemotherapy unit of a cancer ClassⅢGrade A hospital in Beijing. By convenience sampling, a total of 192 patients undergoing chemotherapy from October 2017 to January 2018 and the nurses (n=16) who were primarily responsible for their care were selected as participants. Symptom assessments were completed by the use of the Edmonton Symptom Assessment System (ESAS). Results? Patients and nurses showed poor agreement in Depression, Anxiety and Shortness of breath (ICC＜ 0.4) and moderate agreement (0.4 ≤ICC＜ 0.75) in other symptoms. Wilcoxon signed rank test was used to compare the results of symptom assessment between patients and responsible nurses. Among the 10 entries in ESAS, there was no statistical difference between the results in poor quality of life (Z=-1.627, P=0.104), however, there were statistical differences in all the rest 9 entries (P＜0.05) among which the nurses scored higher than the patients in the entry of anxiety and depression. Conclusions? Responsible nurses' perception on physical symptoms was better than that of psychological symptoms, and there was overestimation and underestimation in the severity of symptoms. It is necessary for the nurses to teach the patients how to use standard assessment tools and through health education, raise the patients' awareness of reporting their symptoms.

Patients with advanced cancer are often accompanied by a variety of symptoms due to disease or treatment,and it is necessary to choose a scientific assessment tool to assess and manage these symptoms. The Edmonton symptom assessment scale (ESAS)is a brief,easy to complete,and comprehensive assessment tool for the common symptoms of patients with advanced cancer. ESAS has been translated into many languages and it is widely used in many countries. In the course of using,the structure and contents of the original scale are adjusted,and the ESAS is more perfect,besides,its reliability and validity are validated,and it is used in the research of evaluation by others.

ObjectiveTo compare the effects of different feeding methods on plasma Ghrelin(a peptide hormone)level, growth and development of premature infants.Methods A total of 147 cases of very low birth weight newborn were randomly divided into nasogastric tube feeding group(group A, 38 cases), nasogastric tube feeding combined with non-nutritional sucking group(group B, 39 cases), nasogastric tube feeding combined with infantile touching group(group C,34 cases), nasogastric tube feeding combined with non-nutritional sucking and infantile touching group(group D,36 cases). Anthropometric indicators and plasma Ghrelin levels of premature infants before and after the feeding were compared among four groups.Results At 2 weeks post admission, the body weight of premature infants in four groups were(1503±206)g(group A),(1487±211)g(group B), (1494±228)g(group C), and(1615±242)g(group D). The differences between group D and other groups were statistically significant(t=2.004, 2.262, 2.061;P<0.05). At 4 weeks post admission, the plasma Ghrelin levels of premature infants in four groups were(38.3±7.4)μg/L(group A),(39.3±6.9)μg/L(group B),(35.7±6.6)μg/L(group C), and(34.5±9.1)μg/L(group D). The increases of plasma Ghrelin levels between group A and group C or D were statistically significant(t=2.65,5.20;P<0.05). Similar results were also observed between group B and group C or D(t=3.01, 5.79;P<0.05).Conclusions Nasogastric tube feeding combined with non-nutritional sucking and infantile touching is efficient in improving quality of life of very low birth weight newborns and saving medical cost.

Objective To observe the effect of yin-yang acupuncture in association with respiratory reducing-reinforcing needling manipulations on the gait cycle in patients with post-stroke hemiplegia. Methods Sixty patients with ischemic stroke were randomized into a treatment group and a control group, 30 each. The control group was intervened by conventional medication, while based on which the treatment group was additionally given yin-yang acupuncture in association with respiratory reducing-reinforcing needling manipulations. The kinematic time parameters were evaluated before intervention and after 28-day treatment. Results After intervention, the stance phase of the affected side and the healthy side, ambulation cycle, swinging phase of the affected side and the healthy side, and the stance phase of both limbs in the treatment group were significantly different from that in the control group(P＜0.05). Conclusion Yin-yang acupuncture in association with respiration reducing-reinforcing needling manipulations can effectively improve the gait cycle and ambulation function of the patients with post-stroke hemiplegia.

Objective: To observe the effect of reinforcing and reducing manipulation by breathing on yin and yang meridian points for motor function of knee joints in patients with ischemic stroke. ＜br> Methods: A total of 60 ischemic stroke cases were randomly allocated into an observation group and a control group, 30 in each group. Other than basic and conventional rehabilitation therapies, cases in the observation group were treated with reinforcing and reducing manipulation on yin and yang meridians points for a period of 8 weeks; whereas cases in the control group only received the same basic and conventional rehabilitation therapy as that in the observation group. Then the knee joint energy, support moment and shaking moment were compared between the two groups before treatment, and after 4-week and 8-week treatment respectively. ＜br> Results: Before treatment, there were no between-group significant differences in knee joint energy, support moment and shaking moment (all P>0.05). After treatment, the knee joint energy, support moment and shaking moment in both groups were significantly improved (P＜0.05). After 8 weeks of treatment, the knee joint energy, support moment and shaking moment in both groups were significantly improved than that of 4-week treatment (P＜0.05). In addition, there were between-group statistical significances in comparing knee joint energy, support moment and shaking moment after 4 and 8 weeks of treatment (P＜0.05). ＜br> Conclusion: Reinforcing and reducing manipulation by breathing on yin and yang meridian points can increase the knee joint support and shaking force and moment in stroke patients and improve their walking ability.

Objective To observe the change of extension-flexion arc of ankle in hemiplegia due to ischemic stroke after yin-yang acupuncture associated with respiration needling manipulations.Method Sixty ischemic stroke patients were divided into a control group and a treatment group by random number table, 30 in each group. The control group was intervened by basic treatment, while the treatment group was by yin-yang acupuncture associated with respiration needling manipulations in addition to the basic treatment. Before intervention and 28 d after intervention, the Lokomat gait analysis system was adopted to observe the change of the extension-flexion arc of ankle respectively under motorial and stationary states.Result When heel was grounded, the flexion angle, the maximum extension-flexion arc value, and motility of ankle joint of the treatment group were statistically different from those of the control group (P＜0.05).Conclusion Yin-yang acupuncture associated with respiration needling manipulations can effectively improve the movement and the walk function of hemiplegia due to ischemic stroke.

This study was aimed to investigate the therapeutic effect of yin-yang meridian acupuncture by reinforc-ing-reducing with patient's respiration on lower limb function among post-stroke patients. A total of 100 stroke pa-tients were enrolled and randomly divided into two groups, which were the control group and the treatment group, with 50 cases in each group. Basic treatment was given in the control group with no related rehabilitation treatment. Basic treatment was given in the treatment group combined with yin-yang meridian acupuncture by reinforcing-re-ducing with patient's respiration. All patients were assessed with kinematics time parameters at the beginning of the treatment and 28 days after the treatment on muscle strength, muscular tension and the change of joint movement of hip joint and knee joint among patients. The results showed that compared with the control group, there was significant difference in treatment group on muscle strength, muscular tension and the change of joint movement of the hip joint and knee joint 28 days after the treatment (P < 0.01). It was concluded that yin-yang meridian acupuncture by reinforcing-reducing with patient's respiration can effectively increase the muscle strength, reduce muscular tension, and improve the change of joint movement, in order to increase the lower limb movement func-tion among stroke patients.