OBJECTIVE: To explore the prevalence and clinical manifestations of ring chromosomes among children featuring abnormal development. METHODS: From January 2015 to August 2021, 7574 children referred for abnormal development were selected, and their peripheral blood samples were subjected to G-banded chromosomal karyotyping analysis. RESULTS: Twelve cases of ring chromosomes were detected, which have yielded a prevalence of 0.16% and included 1 r(6), 2 r(9), 1 r(13), 1 r(14), 2 r(15), 1 r(21) and 3 r(X). The children had various clinical manifestations including growth and mental retardation, limb malformation, and congenital heart disease. For two children with r(9) and two with r(15) with similar breakpoints, one child with r(9) and one with r(15) only had growth retardation, whilst another with r(9) and another with r(15) also had peculiar facies and complex congenital heart disease. The r(X) has featured some manifestations of Turner syndrome. CONCLUSION Ring chromosomes are among the common causes for severe growth and mental retardation in children with diverse clinical phenotypes. Clinicians should pay attention to those with developmental anomalies and use chromosomal analysis to elucidate their genetic etiology.
Humans ; Ring Chromosomes ; Intellectual Disability/genetics* ; Turner Syndrome/genetics* ; Phenotype ; Heart Defects, Congenital/genetics*

Humans ; Bacteremia ; Cross Infection ; Methicillin-Resistant Staphylococcus aureus ; Retrospective Studies ; Sepsis ; Staphylococcal Infections/epidemiology* ; Staphylococcus aureus ; Tertiary Care Centers ; China

Alfalfa(Medicago sativa L.)is the most important legume forage crop worldwide with high nutritional value and yield.For a long time,the breeding of alfalfa was hampered by lacking reliable information on the autotetraploid genome and molecular markers linked to important agro-nomic traits.We herein reported the de novo assembly of the allele-aware chromosome-level genome of Zhongmu-4,a cultivar widely cultivated in China,and a comprehensive database of genomic variations based on resequencing of 220 germplasms.Approximate 2.74 Gb contigs(N50 of 2.06 Mb),accounting for 88.39％of the estimated genome,were assembled,and 2.56 Gb contigs were anchored to 32 pseudo-chromosomes.A total of 34,922 allelic genes were identified from the allele-aware genome.We observed the expansion of gene families,especially those related to the nitrogen metabolism,and the increase of repetitive elements including transposable elements,which probably resulted in the increase of Zhongmu-4 genome compared with Medicago truncatula.Population structure analysis revealed that the accessions from Asia and South America had rela-tively lower genetic diversity than those from Europe,suggesting that geography may influence alfalfa genetic divergence during local adaption.Genome-wide association studies identified 101 sin-gle nucleotide polymorphisms(SNPs)associated with 27 agronomic traits.Two candidate genes were predicted to be correlated with fall dormancy and salt response.We believe that the allele-aware chromosome-level genome sequence of Zhongmu-4 combined with the resequencing data of the diverse alfalfa germplasms will facilitate genetic research and genomics-assisted breeding in variety improvement of alfalfa.

Objective:To evaluate the intervention effect of various drugs on glutathione (GSH) and superoxide dismutase (SOD) enzyme activity of rats kidney with acute nickel carbonyl poisoning.Methods:In January 2019, The 250 SPF male SD rats were randomly divided into normal control group ( n=10) , poisoned group ( n=40) and treatment groups ( n=200) according to the random number table method. And the treatment groups were divided into methylprednisolone group (20 mg/kg) , DDC group (100 mg/kg) , sodium selenite group (10 μmol/kg) , Shenfu huiyang decoction group (0.25 ml) and methylprednisolone combined with DDC group (100 mg/kg) , with 40 mice in each group. Except for the normal control group, rats in the other groups were exposed to nickel carbonyl for 30 min, at 4 h and 30 h after exposure, the rats in each treatment group were intraperitoneally injected with corresponding drugs, and kidney tissues were collected 3 d and 7 d after administration, with 10 mice in each group. The activities of GSH and SOD in kidney were measured by enzyme-linked immunosorbent assay, and using electron microscopy observe ultrastructure changes. Results:Compared to the control group, the activities of GSH and SOD enzyme of poisoned group were significantly decreased at 3 d or 7 d after 4 h or 30 h exposure, and the difference was statistically significant ( P=0.000, 0.031, 0.001, 0.033) , the epithelial nuclei of proximal convoluted tubules were pyknosis and lysosome hyperplasia in the cytoplasm. And compared to poisoned group, the activities of GSH and SOD enzyme of methylprednisolone+DDC group were significantly increased at treatment with 7 d after 4 h exposure, the difference was statistically significant ( P=0.022, 0.000) , and the activities of GSH and SOD enzyme of methylprednisolone and enzyme of methylprednisolone+DDC group were significantly higher at 7 days than at 3 days, the difference was statistically significant ( P=0.020, 0.017, 0.018, 0.033) . The results of electron microscopy showed that the cell nuclei and cytoplasmic organelles of proximal convolute tubule were almost restored to normal tissue level of both methylprednisolone group and methylprednisolone+DDC group. Conclusion:The methylprednisolone and methylprednisolone+DDC have obvious repair effect on renal enzyme activity level of rats with acute nickel carbonyl poisoning, and the treatment effect is better for a long time of medication.

Objective:To evaluate the intervention effect of various drugs on glutathione (GSH) and superoxide dismutase (SOD) enzyme activity of rats kidney with acute nickel carbonyl poisoning.Methods:In January 2019, The 250 SPF male SD rats were randomly divided into normal control group ( n=10) , poisoned group ( n=40) and treatment groups ( n=200) according to the random number table method. And the treatment groups were divided into methylprednisolone group (20 mg/kg) , DDC group (100 mg/kg) , sodium selenite group (10 μmol/kg) , Shenfu huiyang decoction group (0.25 ml) and methylprednisolone combined with DDC group (100 mg/kg) , with 40 mice in each group. Except for the normal control group, rats in the other groups were exposed to nickel carbonyl for 30 min, at 4 h and 30 h after exposure, the rats in each treatment group were intraperitoneally injected with corresponding drugs, and kidney tissues were collected 3 d and 7 d after administration, with 10 mice in each group. The activities of GSH and SOD in kidney were measured by enzyme-linked immunosorbent assay, and using electron microscopy observe ultrastructure changes. Results:Compared to the control group, the activities of GSH and SOD enzyme of poisoned group were significantly decreased at 3 d or 7 d after 4 h or 30 h exposure, and the difference was statistically significant ( P=0.000, 0.031, 0.001, 0.033) , the epithelial nuclei of proximal convoluted tubules were pyknosis and lysosome hyperplasia in the cytoplasm. And compared to poisoned group, the activities of GSH and SOD enzyme of methylprednisolone+DDC group were significantly increased at treatment with 7 d after 4 h exposure, the difference was statistically significant ( P=0.022, 0.000) , and the activities of GSH and SOD enzyme of methylprednisolone and enzyme of methylprednisolone+DDC group were significantly higher at 7 days than at 3 days, the difference was statistically significant ( P=0.020, 0.017, 0.018, 0.033) . The results of electron microscopy showed that the cell nuclei and cytoplasmic organelles of proximal convolute tubule were almost restored to normal tissue level of both methylprednisolone group and methylprednisolone+DDC group. Conclusion:The methylprednisolone and methylprednisolone+DDC have obvious repair effect on renal enzyme activity level of rats with acute nickel carbonyl poisoning, and the treatment effect is better for a long time of medication.

Objective:To explore the safety, efficacy and preliminary clinical application of the single plantar approach or in combination with the dorsalis pedis approach in the treatment of Lisfranc injury with poor dorsalis pedis soft tissue, metatarsal avulsion fracture or complicated multi-column lesions.Methods:(1) Six fresh cadaveric specimens of adult foot were collected and dissected through the plantar approach in order to determine the skin incision of the plantar approach and the safe area for plate-screw internal fixation, including start-stop points and courses of plantar nerves, blood vessels, tendons and ligaments, followed by plate-screw fixation on the specimens. (2) After feasibility of the plantar approach was confirmed by our anatomical study, it was used to treat the 3 patients who were admitted to Department of Orthopedics, The Third Hospital Affiliated to Southern Medical University between September 2020 and November 2021 for Lisfranc injury with severe necrosis due to dorsalis pedis skin contusion or metatarsal base avulsion fracture. They were 2 males and one female, with an average age of 51 years (from 34 to 68 years). The preliminary clinical efficacy was evaluated in terms of visual analogue scale (VAS), midfoot score of American Orthopaedic Foot and Ankle Surgeons (AOFAS), Maryland score, Kofoed score, fracture healing at the last follow-up and postoperative complications.Results:(1) Regarding the anatomical exposure range, the metatarsal side of the first metatarsal wedge joint was exposed medially and the metatarsal side of the third metatarsal wedge joint was exposed laterally; the peroneus longus tendon, Lisfranc plantar ligament and interosseous ligament were explored. X-ray films after the simulated operation showed satisfactory plate positions. (2) As for the preliminary clinical application, all patients were followed up for 6 to 14 months (mean, 11 months). At the last follow-up, the VAS score ranged from 0 to 1 (mean, 0.5), AOFAS score from 85 to 92 (mean, 89), Maryland score from 93 to 96 (mean, 95), and Kofoed score from 92 to 95 (mean, 94). There were no early complications such as fascial compartment syndrome, skin necrosis or infection. All fractures got united, with no complications like traumatic arthritis, muscle atrophy or screw loosening.Conclusion:Testified by the anatomical study, the plantar approach can be used to treat Lisfranc injury with poor dorsalis pedis soft tissue, metatarsal avulsion fracture or complicated multi-column lesions, leading to safe, effective and satisfactory clinical outcomes.

Objective To explore the relationship between chromosomal abnormalities and diseases in children by analyzing chromosome karyotypes. Methods The chromosome karyotype analysis of peripheral lymphocytes in 5 329 children was performed. Results In all, abnormal karyotype were found in 1 723 cases (32.33％) , in which the numerical chromosome abnormalities were detected in 1 539 (89.32％) , following by 125 cases of structural chromosome abnormalities (7.25％) , 53 cases of sex reverse syndrome (3.08％) , and 6 cases of true hermaphroditism (0.35％). The chromosome polymorphism were detected in 228 cases (4.28％). Conclusions The numerical chromosome abnormalities is most frequent chromosomal aberration and is one of the important causes that result in mental retardation, growth delay and disorders of sex development in children.

Objective:To observe the nutritional status and respiratory function of the patients with mechanical ventilation in Intensive Care Unit after high fat and low carbohydrate enteral nutrition treatment.Methods:271 patients with mechanical ventilation in Intensive Care Unit were randomly divided into two groups:study group and control group.The study group was given high fat and low carbohydrate enteral nutrition treatment,while the control group with Enteral Nutritional Suspension.Thealbumin,prealbumin,blood gas analysis(PaC02,Pa0) and RQ,VC02,V02,IgG,CD4,CD4/CD8 were observed.Results:After nutritional support,nutritional status of two groups were improved,but there was no significant difference regarding the serum albumin and prealbumin.The PaO2,VO2,VCO2,RQ,IgG,CD4,CD4/CD8 and the total time of mechanical ventilation were improved,and the study group was superior to the control group.Conclusion:High fat and low carbohydrate enteral nutrition improves the nutritional status and respiratory function of the patients with mechanical ventilation in Intensive Care Unit,and decreases the total time of mechanical ventilation and total medical expenses.

Objective To analyze the influencing factors on condom use among 35-yearsor-older female sex workers (OFSWs) in Qingdao by using the three-level logistic model.Methods From March to June 2014,OFSWs were recruited in Qingdao,using respondent-driven sampling.Related information on OFSWs and their recent five sexual partners (not including husband) were obtained by conducting a questionnaire survey on OFSWs.A Three-level logistic regression model was conducted to analyze the influencing factors of condom use between OFSWs and their sexual partners.Results A total of 420 OFSWs participated the survey as well as information on 2 100 sexual partners.Results from the empty model showed that the use of condoms among OFSWs having an aggregation that related to the levels of working sites and their own behaviors.Results from the three-levels of logistic model analysis showed that,OFSWs that having had junior middle school education (OR=1.450,95％CI:1.054-1.994)/high school education or above (OR=2.264,95％ CI:1.215-4.222),knowing the function of condom use (OR=2.004,95％ CI:1.273-3.154) would have higher rates of condom use.OFSWs with higher score of attitude on condom use (OR=0.796,95％CI:0.745-0.849),having had syphilis infections in the past (OR=0.657,95％ CI:0.478-0.902) would have lower rate of condom use.For the sexual partners,the rate of condom use among OFSWs' regular partners were higher than that of OFSWs' boyfriends (OR=15.291,95％CI:8.441-27.700;OR=29.032,95％ CI:15.413-54.682).Conclusion Condom use of OFSWs was affected by behaviors of both OFSWs themselves and their sexual partners.Prevention and control programs should focus on OFSWs and their sexual partners at the same time.The key intervention contents should include target populations as:OFSWs with low level of education,having had infections of syphilis,those who do not use condoms with their trusted partners.

Objective This study aimed to analyze the behavior change and related factors regarding HIV/STD epidemics among female sex workers (FSWs) in Qingdao city.Methods According to the requirements set by the "National HIV/AIDS sentinel surveillance program",information on demographics,sexual and drug use behaviors,and HIV-related services among female sex workers (FSWs) was collected from ten consecutive annual cross-sectional surveys from 2006 to 2015.Blood samples were drawn for serological tests on both HIV and syphilis antibodies.Results Data from the sampled FSWs over the ten years,a higher proportion of participants who were aged 30 or more,married or cohabited and on-call FSW were followed.The prevalence of syphilis increased significantly from 1.0％ (4/420) in 2006 to 13.3％ (53/400) in 2015 (trendx2=54.22,P＜0.001).Rates on illicit drug use were ranging from 12.0％ (48/400) and 55.5％ (222/400) while the rate on consistent condom use with clients in the last month showed decreasing,with trendx2=170.62,P＜0.001.The proportion of HIV-related knowledge score ≥ 6 (trend x2 =152.96,P＜ 0.001),or ever been tested for HIV (trendx2=114.87,P＜0.001) were both significantly increased over the last ten years.Between 2009 and 2015,results from the annual stratified analysis showed that the FSWs who used drugs were more likely than the FSWs who were non-drug users less consistently using condoms with clients in last month and being syphilis positive (P＜0.05).On-call FSWs were more likely to be syphilis positive (P＜0.05) than the non on-call FSWs.Conclusions The prevalence of syphilis among FSWs in Qingdao city had been rising over the last ten years,with synthetic drug abuse as an important risk factor.Better targeted surveillance and intervention efforts among those drug-using FSWs seemed important to reduce the epidemics.