This paper reports the clinical characteristics and ZNF526 gene mutation in a child with Dentici-Novelli neurodevelopmental syndrome, who was admitted to the Department of Pediatrics at the First Affiliated Hospital of Henan University of Traditional Chinese Medicine in June 2021, and reviews the relevant literature.The male child, 5 years and 1 month old, presented with distinctive facial features, intellectual and motor retardation, language development delays, scattered Mongolian spots on the back and buttocks, brain tissue involvement, visual impairment, and epilepsy.The whole-exome sequencing of the family revealed that the child suffered compound heterozygous mutations, c.1430G>T and c. 475C>T, in the ZNF526 gene.At present, 7 mutation sites in the ZNF526 gene have been reported globally to be associated with neurodevelopmental disorders, and the 2 mutations in this case have not been reported in the literature, broadening the phenotype and mutation spectrum of this disease.

Objective:To analyze the clinical characteristics and surgical treatment of patients with cervical bronchogenic cyst.Methods:This study enrolled 14 cases of cervical bronchogenic cysts confirmed by surgery and pathology in our hospital from Sep 2015 to Sep 2020 to discuss clinical, imaging features and diagnosist.Results:Cysts lay in the left neck in 8 cases and in the right side in 6 cases, with the largest diameter of 5.8 cm and the smallest of 0.8 cm (3.4±1.7) cm. Cysts were closely related to the thyroid in 10 cases, adjacent to the recurrent laryngeal nerve in 2 cases. The postoperative pathology established the diagnosis of bronchogenic cyst, and no patients suffered from recurrence during the follow-up period.Conclusions:Cervical bronchogenic cyst is a rare congenital malformation of extrathoracic bronchogenic cyst. Final diagnosis is dependent upon pathology. Complete surgical resection is the key to prevent recurrence.

Extracellular vesicles (EVs) have recently received much attention about the application of drug carriers due to their desirable properties such as nano-size, biocompatibility, and high stability. Herein, we demonstrate orange-derived extracellular vesicles (OEV) nanodrugs (DN@OEV) by modifying cRGD-targeted doxorubicin (DOX) nanoparticles (DN) onto the surface of OEV, enabling significantly enhancing tumor accumulation and penetration, thereby efficiently inhibiting the growth of ovarian cancer. The obtained DN@OEV enabled to inducement of greater transcytosis capability in ovarian cancer cells, which presented the average above 10-fold transcytosis effect compared with individual DN. It was found that DN@OEV could trigger receptor-mediated endocytosis to promote early endosome/recycling endosomes pathway for exocytosis and simultaneously reduce degradation in the early endosomes-late endosomes-lysosome pathway, thereby inducing the enhanced transcytosis. In particular, the zombie mouse model bearing orthotopic ovarian cancer further validated DN@OEV presented high accumulation and penetration in tumor tissue by the transcytosis process. Our study indicated the strategy in enhancing transcytosis has significant implications for improving the therapeutic efficacy of the drug delivery system.

A case of limb girdle muscular dystrophy type 2S (LGMD2S) caused by maternal uniparental disomy on chromosome 4 at the First Affiliated Hospital of Henan University of Chinese Medicine in March 2020 was reported.The female child, aged 9 months and 4 days, presented with developmental delay after bacterial meningitis in early infancy, decreased muscle strength in infancy and increased muscle and liver enzymes.Family genetic analysis showed that the child′s monodiploid in chromosome 4 was maternal origin, and the homozygous c. 1066T > G (p.Y356D) of TRAPPC11 gene may had pathogenic variation, which came from the child′s mother.The final diagnosis of LGMD2S was made according to the clinical manifestations and gene test results.LGMD2S is a rare autosomal recessive disease caused by the pathogenic variation of TRAPPC11 gene.Its clinical characteristics include proximal limb weakness, motor and intellectual retardation, seizures, motor disorders, elevated serum creatine kinase and muscular dystrophy like pathological changes in children.

Objective:To summarize the ultrasound features of medullary thyroid cancer (MTC) and analyze its diagnosis value for MTC.Methods:91 patients with medullary thyroid carcinoma (103 nodules) in Department of Thyroid Surgery of the First Affiliated Hospital of Zhengzhou University from Apr. 2013 to Nov. 2018 were retrospectively analyzed, including 36 males and 55 females. Preoperative ultrasound features and serum calcitonin levels were recorded. SPSS 22.0 was used and the measurement data of normal distribution was expressed as ± s, and the enumeration data was described by ratio or rate. The comparison between groups was performed by single factor ANOVA and rank sum test. Results:83.5% (86/103) of the MTC nodules were located in the middle and upper thyroid gland. Hypoechoic accounted for 78.6% (80/103) . 81.6% (84/103) of them had calcification and 74.8% (77/103) of these nodules had abundant blood flow signals (color Doppler flow imaging, CDFI Ⅱ-Ⅲ) . 91.3% (94/103) of them had aspect ratio less than 1, 87.4% (90/103) were solid and 35.0% (36/103) had comet tail sign. The positive rate of preoperative serum calcitonin was 86.8% (79/91) . There were significant differences in shape ( P=0.001) , margin ( P=0.012) , cystic ( P=0.004) , comet-tail ( P<0.001) , lymph node ( P<0.001) and color Doppler flow imaging ( P=0.001) through comparing MTC nodules in different TI-RADS grades. Conclusions:MTC can behave as single, solid, hypoechoic, large round nodule located in the middle or upper thyroid gland, with thick calcification and abundant blood flow signals in ultrasound. The surrounding area may be accompanied with comet tail sign, and the probability of lymph node metastasis is high. The suspicious nodules screened by ultrasound can be further diagnosed by serum calcitonin.

【Objective】 To study the effects of platelets donation frequency on iron, copper, zinc content and superoxide dismutase(SOD) activity in plasma of blood donors. 【Methods】 128 apheresis platelet donors from August 25, 2020 to August 25, 2021 in our center were divided into 4 groups according to the frequency of platelet donation: first-time donors(n=30) were enrolled as group 1, and donors with 2 to 7 donations(n=23), 8 to 14 donations(n=29), 15 to 24 donations(n=46) within the previous period were group 2, group 3 and group 4. All these donors were males, with the average age of 42 ± 8.3, and had not donated whole blood in the past two years. Inductively coupled plasma mass spectrometry(ICP-MS) was used to detect the content of copper, iron and zinc in plasma of different groups of platelet donors. The SOD activity was detected by WST colorimetric kit. All data were statistically analyzed by SPSS 19.0 software. 【Results】 Significant differences in the content of iron and copper, but no in zinc, were noticed in donors of different groups(P<0.05). Multiple comparison showed that first-time blood donors presented significantly higher iron content but significantly lower copper content than those of donors with 15 to 24 blood donations per year(P<0.05), and no significant difference was found in iron and copper content among other groups(P>0.05). There was no significant difference in zinc content between every two groups(P>0.05). The SOD inhibition rate of blood donors in different groups was not significantly different. 【Conclusion】 The content of plasma iron, copper, and zinc and the SOD activity were not significantly affected if platelet donations were less than 15 times within a year. For those donated platelets more than 15 times within a year, the content of iron was found to decrease and copper to increase. It is suggested that platelet donations more than 15 times is correlated with the content of iron and copper in plasma of blood donors. Therefore, the proportion of iron-rich food should be appropriately increased in the daily diet for high-frequency(≥15 times per year) apheresis platelet donors after blood donation.

Objective To explore the effect of evidence-based nursing in elderly patients undergoing coronary artery bypass grafting. Methods From June 2016 to June 2018, 110 elderly patients aged 65 to 80 who underwent coronary bypass transplantation in cardiac surgery ward were selected by convenience sampling. The subjects were divided into control group (55 cases) and observation group (55 cases). The patients in the control group were given routine nursing method. The patients in the observation group were given evidence-based nursing according to routine nursing methods. The incidence of postoperative complications and the satisfaction of nursing care between the two groups were compared. Results The incidence of arrhythmia, mental disorder, respiratory tract infection, hypoxemia, knife-edge infection and pressure sore during mechanical ventilation were 15.3％(9/55),6.8％(4/55),7.5％(6/55), 12.1％(7/55),5.2％(3/55)in the observation group, 35.7％(21/55),27.1％(15/55),25.5％(25/55),12.7％(12/55),15.3％(9/55) in the control group, and the difference was statistically significant (χ2=2.423-17.476, P<0.05 or 0.01). The satisfaction degree was 96.36％(53/55)in the observation group, 81.82％(45/55) in the control group, and the difference was statistically significant (χ2 =5.9864,P<0.05). Conclusions Evidence-based nursing has a better effect in the nursing of elderly patients undergoing coronary artery bypass grafting, and it is worth popularizing in clinical nursing.

Leaf water potential of peanut subjected to drought stress is positively related to the oil content of peanut kernels. The aim of this study was to directly screen the high oil mutants of peanut and create the new peanut varieties using hydroxyproline as water potential regulator. In vitro mutagenesis was carried out with the embryonic leaflets of peanut variety Huayu 20 as explants and pingyangmycin as a mutagen added into the somatic embryo formation medium. The formed somatic embryos were successively transferred to somatic embryo germination and selection medium containing 6 mmol/L hydroxyproline (at -2.079 MPa water potential ) to induce regeneration and directionally screen high oil content mutants. After that, these plantlets were grafted and transplanted to the experimental field and 132 high oil mutants with oil content over 55% were obtained from the offspring of regenerated plants. Finally, among them, the oil contents of 27 lines were higher than 58% and of 2 lines were higher than 60%. A new peanut variety Yuhua 9 with high yield and oil content was bred from the regenerated plant progenies combining the pedigree breeding method. The yield was 14.0% higher than that of the control cultivar in the testing new peanut varieties of Liaoning province, and also it has passed the national registration of non-major crop varieties. Yuhua 9 with an oil content of 61.05%, which was 11.55 percentage points higher than that of the parent Huayu 20, was the peanut cultivar with the highest oil content in the world. The result showed that it was an effective way for directional breeding of high oil peanut varieties by means of the three-step technique including in vitro mutagenesis, directional screening by reducing water potential in medium and pedigree selection of regenerated plant progenies.
Arachis ; Droughts ; Germination ; Mutagenesis ; Plant Breeding

The embryonic leaflets of peanut (Arachis hypogaea) variety Huayu 20 were used as explants and pingyangmycin as a mutagen to induce somatic embryos. Four weeks after the inoculation, the survived explants were transferred to somatic embryo germination medium containing screening reagent hydroxyproline, and finally 15 regenerated plants were obtained. Pedigree breeding method was used during the following selection breeding, and three lines with significantly increased yield and 23 lines with high oil content were obtained from these mutant offsprings. The line with both high yield and high oil content has passed peanut variety multi-location in Anhui province and was named "Yuhua 4". Its yield was 16.63% higher than that of the control variety Baisha 1016, ranking the first in all the testing varieties. Yuhua 4 showed the characteristics of early maturity, small pod and high oil content. The oil content of kernels was 56.10%, higher than that of original parent Huayu 20 with 49.50% oil content, tested by the Ministry of Agriculture of Oil and Products Quality Supervision, Inspection and Test Center (Wuhan), and the yield was 15% higher than that of Huayu 20. It was concluded that in vitro mutagenesis and target screening was an effective way on creating new germplasm and breeding new variety in peanut.

AIM To compare liver-protective and anti-inflammatory effects of extracts from root,stem,leaf,and flower of Gentiana rigescens.METHODS The mouse model for the immunological liver injury induced by Concanavalin A,and mouse ear swelling model for inflammation caused by dimethylbenzene were used for the comparison of the liver-protective or anti-inflammatory effects of four parts individually.RESULTS Four aqueous extracts of Gentiana rigescens showed the dose-dependent decrease in the activity of ALT and AST in serum and liver index,and alleviation of hepatic tissue injury induced by Concanavalin A in mice.The effects of the extracts from the leaf and root were better than those from the stem and flower.These extracts presented dose-dependent inhibition against the ear swelling caused by dimethylbenzene in mice.The effects of the extracts from the leaf and stem were better than those from the flower and root.CONCLUSION Extracts from the root and leaf of G.rigescens have liver-protective effect,and parts from the stem and leaf have anti-inflammatory effect.