Objective:To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).Methods:A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People′s Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA). This study was approved by Medical Ethics Committee of the Qingyuan People′s Hospital (Ethics No. IRB-2022-064).Results:Prenatal ultrasound examination of the two fetuses had consistently revealed WHS-associated traits including intrauterine growth restriction (IUGR), craniofacial abnormalities and cardiovascular anomalies. Karyotyping analysis suggested that both fetuses had harbored cryptic chromosomal translocations involving partial deletion of 4p. And parental verification revealed that it was de novo for fetus 1 and paternal for fetus 2. CMA has confirmed that fetus 1 had an approximately 8.7 Mb deletion at 4p16.3p16.1 and a 6.8 Mb duplication at 8p23.1p23.1, whilst fetus 2 had a 20.05 Mb deletion at 4p16.3p15.31 and a 7.66 Mb duplication at 9p24.3p24.1. The karyotype of fetus 1 was determined as 46, XN, der(4)t(4; 8)(p16.1; p23.1)dn.arr[hg19]4p16.3p16.1(68345_8721580)×1, 8p23.3p23.1(158048_6933745)×3, and that of fetus 2 was determined as 46, XN, der(4)t(4; 9)(p15.3; p24)dpat.arr[hg19]4p16.3p15.31(68345_20116061)×1, 9p24.3p24.1(208454_7868292)×3. Conclusion:The 4p deletion is probably the main cause for the WHS phenotype in both fetuses. WHS should be suspected when IUGR, renal anomalies, craniofacial and cardiovascular abnormalities are detected upon prenatal ultrasound screening.

Objective To observe the impact of age and menstrual status on semi-quantitative parameters of breast dynamic enhanced MRI(DCE-MRI)in healthy adult women.Methods A total of 283 adult females who underwent MR examinations due to suspected breast mass or breast discomfort but no breast tumor was detected after 1 year's clinical follow-up were retrospectively collected.Meanwhile,49 healthy adult female subjects in the menstrual period(menstruating subgroup)were prospectively recruited.All the above 332 subjects were divided into low age group(n=107),middle age group(n=114)and high age group(n=111)according to age,while into postmenopausal group(n=112)and premenopausal group(n=220,including 49 in menstruating subgroup,77 in proliferating subgroup and 94 in secreting subgroup).DCE-MRI semi-quantitative parameters,including maximum enhancement rate(ERmax)and maximum slope of increasing(Slopemax)were compared among different groups and subgroups,and the variations were observed.Results Significant differences of ERmax and Slopemax were found between high and low age groups(both P＜0.05),while no significant difference of ERmax and Slopemax was found between middle and low age group,nor between middle and high age group(all P＞0.05).Both ERmax and Slopemax in postmenopausal group were lower than those in premenopausal group(both P＜0.05),while no significant difference of DCE-MRI semi-quantitative parameters was found among different menstrual cycle subgroups(all P＞0.05).The coefficient of variance(CV)of normal breast ERmax in low,middle and high age groups was 56.20％,44.02％and 50.97％,respectively,of Slopemax was 54.74％,81.78％and 76.93％,respectively.CV of normal breast ERmax was 50.12％and 46.02％in postmenopausal and premenopausal groups,respectively,while CV of Slopemax was 72.84％and 62.04％,respectively.Among different subgroups,CV of ERmax and Slopemax in proliferative period were both the largest(61.39％,82.54％),which in menstrual period were both the smallest(33.99％,42.33％).Conclusion Semi-quantitative parameters of breast DCE-MRI were different among healthy women of different age and menstrual status,and the individual variations were large.

BACKGROUND: Tissue engineering is increasingly viewed as a promising avenue for functional cartilage reconstruction.However, chondrocyte dedifferentiation during in vitro culture remains an obstacle for clinical translation of tissue engineered cartilage. Re-differentiated induction have been employed to induce dedifferentiated chondrocytes back to their original phenotype. Regrettably, these strategies have been proven to be only moderately effective. METHODS: To explore underlying mechanism, RNA transcriptome sequencing was conducted on primary chondrocytes (P0), dedifferentiated chondrocytes (P5), and redifferentiated chondrocytes (redifferentiation-induction of P5, P5.R). Based on multiple bioinformatics analysis, LGR5 was identified as a target gene. Subsequently, stable cell lines with LGR5 knocking-down and overexpression were established using P0 chondrocytes. The phenotypic changes in P1 and P5 chondrocytes with either LGR5 knockdown or overexpression were assessed to ascertain the potential influence of LGR5 dysregulation on chondrocyte phenotypes. Regulatory mechanism was then investigated using bioinformatic analysis, protein–protein docking, immunofluorescence co-localization and immunoprecipitation. RESULTS: The current study found that dysregulation of LGR5 can significantly impact the dedifferentiated phenotypes of chondrocytes (P5). Upregulation of LGR5 appears to activate the PI3K/AKT signal via increasing the phosphorylation levels of AKT (p-AKT1). Moreover, the increase of p-AKT1 may stabilize b-catenin and enhance the intensity of Wnt/b-catenin signal, and help to restore the dedifferentated phenotype of chondrocytes. CONCLUSION LGR5 can modulate the phenotypes of chondrocytes in P5 passage through PI3K/AKT signaling pathway.

Objective:To investigate the relationship between cumulative fasting blood glucose(cumFPG)exposure and all-cause mortality.Methods:The prospective cohort study included 56 845 subjects of Kailuan Group who participated in physical examinations from 2006 to 2007, 2008 to 2009, and 2010 to 2011 with complete data and a median of 7.77 years of follow up. The end point event was all-cause mortality. The incidence of all-cause mortality was compared in various groups divided by four quartile of cumFPG. The Cox proportional hazards model and natural spline were used to analyze the effect of cumFPG on all-cause mortality.Results:During the average(7.77±1.05)years of follow-up, the incidence density of all-cause mortality was on the rise with the increase of cumFPG(4.93, 5.87, 8.48, and 14.02 per 1 000 person-years), with statistically significant difference by Log- rank test( P<0.001). Cox proportional hazards model showed that after adjusting for potential confounding factors(age, sex, body mass index, hypertension, baseline fasting plasma glucose), the HR value(95% CI)of all-cause mortality in the fourth quartile group was 1.28(1.15-1.42)compared to the first quartile. When cumFPG increased every standard deviation, the risk of all-cause mortality increased by 17%. Natural spline analysis exhibited a similar J curve relationship between cumFPG and all-cause mortality. Conclusion:High cumFPG is a risk factor of all-cause mortality.

OBJECTIVE: To determine the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dongguan region of Guangdong Province and assess the efficacy and feasibility of flow-through hybridization. METHODS: Peripheral blood samples were randomly selected and detected by modified G6PD/6PGD ratio method. Flow-through hybridization was used to detect 14 G6PD mutations among all samples. RESULTS: In total 1005 samples were collected, the detection rate for modified G6PD/6PGD ratio method and flow-through hybridization were 2.79% and 20.90%, respectively. The consistency of the two methods was poor(Kappa=0.187). When c.1311C>T mutation is excluded, the consistency of the two methods was good for males (Kappa=0.952) but still poor for females (Kappa=0.194). The most common mutations were c.1376G>T, c.1388G>A and c.95A>G. No G6PD deficiency was found among those only carrying the c.1311C>T mutation. CONCLUSION Flow-through hybridization can simultaneously detect 14 loci, covering over 90% of common mutations in Chinese population, and can be easily expanded. The routine method may miss many females carrying homozygous, compound heterozygous and heterozygous mutations, but the detection rate for male hemizygous mutation was much higher.
China ; DNA Mutational Analysis ; Female ; Genetic Testing ; Genotype ; Glucosephosphate Dehydrogenase ; genetics ; Glucosephosphate Dehydrogenase Deficiency ; diagnosis ; Humans ; Male ; Mutation

Objective To explore the effects of comprehensive nursing intervention on fiber gastroscopy for senile patients.Methods Totally 100 senile patients who received fiber gastroscopy in the Department of Gastroenterology of the First Affiliated Hospital of Nanjing Medical University from September 2014 to October 2015 were selected by convenient sampling, and randomly and equally divided into an observation group and a control group. Patients in the control group received routine nursing, while patients in the observation group received comprehensive nursing intervention on the basis of routine nursing. The blood pressure, heart rate and coordination during fiber gastroscopy were compared between the patients in the two groups before and after fiber gastroscopy; and the Self-Anxiety Scale (SAS) and Self-Depression Scale (SDS) were used to rate the emotion of the patients after hospitalization and before fiber gastroscopy.Results The differences in heart rate, systolic pressure and diastolic pressure before and after fiber gastroscopy in the patients in the observation group were smaller than that of the patients in the control group (t=43.732, 42.744, 61.492;P<0.01). Totally 45 patients in the observation group could keep quiet during fiber gastroscopy, higher than the number in the control group (χ2=17.533,P<0.01); 5 patients in the observation group showed fear during fiber gastroscopy, lower than the number in the control group (χ2=17.533,P<0.01); and the number of patients in the observation group who showed nausea, vomiting and cough was lower than that in the control group (P<0.01). The SDS and SAS scores of the patients in the observation group before fiber gastroscopy were (41.14±2.14) and (41.12±3.47), both lower than those of the patients in the control group (t=13.471, 8.843;P<0.01).Conclusions Comprehensive nursing intervention for senile patients can eliminate the fear, improve the adaptability, and mitigate the psychological and physical stress reaction in the patients.

A method of ultra performance liquid chromatography-quadrupole-time of flight-mass spectrometry ( UPLC-Q-TOF MS) was developed to determine 35 kinds of illegally added chemical fungicides in pesticide formulations. The samples were pretreated based on the ultrasonic extraction by the solvent of methanol, and then separated on a Zorbax C18(100 mm×1. 8 mm, 2. 1 μm) column by a gradient elution with 0. 1% formic acid aqueous solution and acetonitrile as the mobile phase. The mass spectrometer was operated under positive mode. Under the optimal conditions, the recoveries at three spiked levels (0. 2, 0. 4, and 2. 0 mg/kg) were in the range of 81. 0%-101. 3% and the RSDs were 1. 0%-4. 4%. Based on the developed method, 100 samples were analyzed, and among which 6 samples were screened out chemical fungicides. The proposed method was high-efficient, accurate and reliable for the qualitatively screening of illegaly added chemical fungicides.

Objective To evaluate the clinical application of enteral nutrition by nasojejunal tube insertion and by percutaneous endoscopic gastrostomy (PEG) in elderly patients.Methods A total of 65 elderly patients with dysphagia recruited at our department from January 2010 to November 2014 were divided into the nasojejunal tube feeding group (35 cases) and the PEG feeding group (30 cases).Differences between these two groups in nutritional indexes,immunological indexes,complications and mortality were analyzed retrospectively.Results Serum total protein,albumin and prealbumin and upper arm circumferences all increased after treatment with nasojejunal tube feeding or percutaneous endoscopic gastrostomy (P＞0.05).There was overall improvement in nutritional status,as assessed by Nutritional Risk Screening 2002 (NRS2002).Specifically,the before/one month-after-treatment ratio of scores was 3.72±0.91/1.90±0.61 (t=7.24,P＜0.01) for the nasojejunal tube feeding group and 3.52±1.23/2.02±0.53 (t=4.17,P＜0.01) for the PEG feeding group.Compared with NRS2002 scores at one month post-operation,further improvement was achieved at 3 months postoperation both for the nasojejunal tube feeding group (1.89±0.65,t=5.21,P＜0.01) and for the PEG feeding group (1.91±0.62,t=4.40,P＜0.01).There was no difference in the indexes of nutrition,immune status or mortality between the two groups (P＞0.05).Although improvement in CD3+,CD4+,CD8+,CD4+/CD8+,IgA,IgG,and IgM was seen in both groups after operation,the differences did not reach statistical significance (P＞0.05).The incidence of aspiration pneumonia was notably lower (P＜0.05) while the incidence of diarrhea was much higher (P＜0.05) in the nasojejunal tube feeding group than in the PEG feeding group at one month and three months.The two groups had similar causes of death and mortality rates.Conclusion Both nasojejunal tube and PEG feeding can improve the nutritional status of elderly patients with dysphagia.However,the choice for the route of nutrition should be individualized.

Objective To discuss the effects of narrative medicine on diabetic foot knowledge level and metabolic parameters of patients with middle or high risks for diabetic foot. Methods We selected 90 patients with mid-and-high risks for diabetic foot who accorded with the inclusion criteria from October 2012 to May 2013. All patients were given a questionnaire about knowledge of diabetic foot to evaluate the degree of patients′mastery level of diabetic foot knowledge and after routine education, patients were randomly divided into experimental group and control group by random number table. The patients of control group received conventional education, while the patients of experimental group were intervened with narrative medicine education. We compared patient′s foot related knowledge level and metabolic parameters after 6 months. Results A total of 87 patients completed the whole study. Forty-three patients were in the control group, and forty-four patients were in the experimental group. After interventions, patient′s systolic pressure, diastolic pressure, 2 h postprandial blood sugar, and glycosylated hemoglobin in the experimental group were lower than that of the control group (P<0. 05). After interventions, the scores of the questionnaire were higher than that of the control group (P <0. 05). After interventions, the basic information of diabetes knowledge, recognition of diabetic food, food nursing, correct knowledge of wearing shoes and socks, knowledge of avoiding food injuries, total score of food knowledge questionnaire in the experimental group were compared with those of control group with statistical significance (P<0. 05). Conclusions Narrative medicine can improve middle or high risks diabetic foot patient′s foot related knowledge level and metabolic parameters.

Objective To investigate the effects of high loading dose of atorvastatin on lipoprotein-associated phospho?lipase A2 (Lp-PLA2) and inflammatory cytokines in patients with acute myocardial infarction (AMI), who underwent emergen?cy percutaneous coronary intervention (PCI). Methods A total of 65 cases with AMI who underwent emergency PCI be?tween October 2011 and August 2013 were randomly divided into two groups:control group (n=32, atorvastatin 20 mg/24 h) and high dose atorvastatin group (n=33, atorvastatin 40 mg/24 h). Two groups of patients were given the same basic treat?ment. Blood samples were obtained before treatment and 72 h after PCI in two groups. Levels of Lp-PLA2, interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), alanine transaminase (ALT) and aspartate transaminase (AST) were detected in two groups. The adverse drug reactions were observed. Results There were no significant differences in Lp-PLA2, IL-6, TNF-α, ALT and AST levels between two groups (P>0.05). After PCI, the levels of Lp-PLA2, IL-6 and TNF-αwere significantly increased compared with those of baseline in two groups, and they were more notable in control group than those of high dose atorvastatin group (P<0.05). The levels of ALT and AST were also significantly higher after operation compared with those of basic levels (P<0.05), while there were no significant differences in ALT and AST after PCI between two groups (P>0.05). Conclusion The high loading dose of atorvastatin in AMI patients underwent emergency PCI can de?crease the inflammation and stabilize the plaques in acute stage, and which is safe.