OBJECTIVE: To explore the genetic cause of a neonate with congenital dysplasia, growth retardation through clinical evaluation, laboratory tests and next generation sequencing (NGS). METHODS: Peripheral blood samples were obtained from the child and his parents. Whole genomic DNA was extracted and subjected to NGS. Suspected mutation was predicted by bioinformatic tools and validated by Sanger sequencing. RESULTS: The child was found to carry a c.556G>A (p.E186K) mutation of the HDAC8 gene on the X chromosome, which was predicted to be pathogenic by Bioinformatic analysis. CONCLUSION The patient was diagnosed as Cornelia de Lange syndrome 5 caused by the c.556G>A mutation of the HDAC8 gene.
De Lange Syndrome ; genetics ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Histone Deacetylases ; genetics ; Humans ; Infant, Newborn ; Male ; Mutation ; Repressor Proteins ; genetics

Objective: To explore the relationship between screen time and prediabetes in adolescents. Methods: A cross-section study. A total of 532 adolescents aged 12~18 years in Shandong Zibo Vocational Institute were selected by stratified sampling method. The screen time was investigated by questionnaire survey. Measuring fasting fingertip blood glucose, screening for who with potentially abnormal blood glucose, and measuring their fasting venous blood glucose, which is to determine whether it is prediabetes. Results: With the increase of screen time, the risk of prediabetes increased continuously. Compared with adolescents with those who spend 0~119 minute per day screen time, the risk of prediabetes of adolescents with an average daily screen time of 120~239, 240~317, ≥318 minute increased by 0.37%, 2.63%, and 3.57%, respectively. After multi-factor adjustment, the risk of prediabetes with who take 240~317, ≥318 minute per day screen time is still higher than who with the average daily screen time of 0~119 minute, the adjusted OR was 2.502 (95% CI 1.279-4.897), 2.337(95% CI=1.189-4.594). Conclusion The results of this study show that the longer the screen time, the higher the risk of prediabetes in adolescents, and adolescents should be encouraged to reduce screen time.

Objective To investigate the clinico-pathological features and renal outcomes of primary IgA nephropathy (IgAN) with glomerular IgM deposition.Methods Primary IgAN diagnosed with biopsy from January 2006 to December 2011 were recruited.Patients were divided into groups according to IgM deposition (Group A) and without IgM deposition (Group B).In addition,Group A was subdivided into two groups based on the position of IgM deposits as the mesangium (Group A1) and both mesangium and capillary wall (Group A2).Renal outcomes were defined as end stage renal disease (ESRD) and/or the doubling of baseline serum creatinine.Clinico-pathological features were retrospectively compared.Kaplan-Meier was conducted for renal outcomes,and Cox regression model was used to analyze the prognostic value of IgM deposition and the position of IgM deposition in the progression of nephropathy in IgAN patients.Results 939 patients were enrolled with 422 (44.9％) having IgM deposition (Group A).Of the 422 patients,382 patients were divided as Group A 1,whereas 40 patients were noted as Group A2.Compared to Group B,hemoglobin,serum protein,albumin and serum IgG levels in group A were significantly lower,and the cholesterol and serum IgM levels were significantly higher (all P ＜ 0.05).There was no significant difference in serum creatinine,estimated glomerular filtration rate (eGFR),urinary protein,blood pressure and uric acid between group A and B.In terms of pathological manifestations,patients in Group A exhibited more severe histological lesions including glomerular sclerosis,S1,M1 and interstitial inflammatory cell infiltration (all P＜0.05).Immunofluorescence showed that the proportion of IgG,C1q and Fg deposition in group A was significantly higher than that in group B (all P ＜ 0.05).By Kaplan-Meier,cumulative renal survival rate has no significant difference between Group A and B (Log-rank test x2=0.019,P=0.891).Univariate and muhivariable Cox regression analysis showed that IgM deposition had no significant effect on the renal progression in IgAN patients.Subgroup analysis showed that patients in Group A2 exhibited higher urine protein,creatinine and blood pressure,and lower eGFR and serum albumin,also had worse histological lesions including M1,E1 and T1-2 of Oxford classification (all P＜0.05),Immunofluorescencc showed that the proportion of IgG,C1q and Fg deposition in group A2 was significantly higher than that in group A1 (all P ＜ 0.05).By Kaplan-Meier,renal survival rates calculated from outcomes were lower in Group A2 (Log-rank test x2=1 8.207,P ＜ 0.001).In addition,IgM deposited both in the mesangium and capillary wall was a risk factor for renal progression of IgAN patients with IgM deposition by a univariate Cox hazards regression mode and multivariable-adjusted Cox models (HR=3.621,95％CI 1.924-6.814,P＜ 0.001;HR=2.309,95％CI 1.176-4.533,P=0.015respectively).Conclusions The IgAN patients with IgM deposition relatively had more severe clinicopathological changes,especially those with IgM deposited both in the mesangium and capillary wall.In this study,IgM deposition was not found to be an independent risk factor for the prognosis of kidney in IgAN patients.However,IgM deposited both in the mesangium and capillary wall was an independent risk factor for renal prognosis in IgAN patients with IgM deposition.

To explore the rule of acupuncture and moxibustion in treating insomnia, and to use the Ancient and ModernMedical Cloud Platform (V1.4), a data mining technology, as a basis for interdisciplinary research ideas to providereference for clinical. Searching for acupuncture therapy insomnia clinical research literature in the past 30 years (January 1, 1987-December 31, 2017 in Chinese Knowledge Resource Base (CNKI), Chinese Science and TechnologyJournal Database (Chongqing Weipu), Chinese Academic Journal Database (Wanfang Data), and China BiomedicalDocumentation Database (CBM) for) by computer, using Excel to establish a database and enter the Ancient and ModernMedical Case Cloud Platform (V1.4), data mining methods such as frequency analysis, association rule analysis, hole pairanalysis, community analysis, and complex network analysis are used to analyze the data from the perspectives of singlehole frequency, cave Association, core prescriptions, and clinical syndrome differentiation prescriptions. The data arevisually displayed using novel and colorful charts to enhance visibility. After screening, a total of 191 articles wereincluded in the literature, involving a total of 149 acupoints and a total of 2139 points. Among them, the top fiveacupoints in the point frequency were Sanyinjiao (143 times), Shenmen (139 times), Baihui (120 times), Neiguan (115 times), and Taichong (107 times) . The first five points are Shenmen-Sanyinjiao (120 times), Neiguan-Sanyinjiao (98 times), Neiguan-Shenmen (96 times), Baihuo-Sanyinjiao (96 times), Baihui-Shenmen (91 times) and so on. The maincore prescriptions are Sanyinjiao, Shenmen, Baihui, Neiguan, Taichong, Xinshu, Taixi, Zusanli, Si shencong, Pi shu, andAn mian. The secondary core prescriptions are Fenglong, Shen shu, Yin tang, Gan shu, Dan shu, Fengchi, Zhong wan, Shenting, Zhaohai, Da ling, and others. Using the Ancient and Modern Medical Cloud Platform (V1.4) to analyze thedata, the clinical study of acupuncture and moxibustion for insomnia is illustrated with charts, thus visibility is enhanced, and it is easier to understand. It can guide clinical practice, but remember to consider specific clinical conditions.

This paper summarized nursing experience of 23 patients with malignant tumor treated by 3D printing individualized template and 125I seed implantation.Nursing points included:preoperative assessment and preparation,reviewing the process of template conduction,assisting the physician to simulate the position of patients,making treatment plans,preparing templates before operation;resetting and maintaining position of patients,performing template alignment,seed implantation,monitoring vital signs and complications during operation;observation of complications,providing radiation protection and discharge guidance after operation.All 23 patients completed 125I seed implantation and no serious complication was observed.All patients recovered well and were discharged after treatment.

Objective To investigate the clinical and pathological characteristics of IgA nephropathy (IgAN) with macrohematuria (MH).Method 1512 consecutive patients with biopsyproven IgAN diagnosed from January 2006 to December 2011 were enrolled,and divided into MH group and control group respectively,according to whether there existed episodes of MH before renal biopsy.The clinical and pathological characteristics were compared between two groups.Patients in MH group were then divided into three groups according to the interval from the last episode of MH to renal biopsy to clarify the concomitant clinicopathological changes associated with occurrence of MH.Results The rate of MH in history was 22.1％.MH group patients had significantly lower serum creatinine,slighter proteinuria,lower prevalence of hypertension and heavier microhematuria than control group (all P ＜ 0.001).The prebiopsy durations were similar in two groups (P=0.627).In MH group,chronic pathological indicators,including global/segmental sclerosis,tubule atrophy/interstitial fibrosis were all slighter (all P＜ 0.001),whereas activity indicators,including necrosis lesions,crescents and mesangial proliferation were all more severe compared with control group (all P ＜ 0.05).Those who underwent renal biopsy within 30 days of the last episode of MH had more severe proteinuria and microhematuria,higher prevalence of necrosis lesions,more severe crescents formation,and endothelial proliferation (all P ＜ 0.05).Conclusions IgAN patients with MH in history have relatively milder clinical and chronic pathological manifestations,however more active pathological changes especially in those who suffer episode of MH recently.

Objective To assess the incidence of extrauterine growth retardation (EUGR) in very low birth weight (VLBW) preterm infants and to evaluate the effects of nutritional support and morbidities on EUGR.Methods Data of VLBW preterm infants ＜ 34 weeks of gestation admitted to the Neonatal Intensive Care Unit (NICU) of the First Affiliated Hospital of Sun Yat-Sen University between January 1,2005 and December 31,2010 were reviewed.Those VLBW preterm infants were divided into the EUGR group (n=67) and the non-EUGR group (n=40).Perinatal data,growth data,nutritional information and morbidities were compared between the two groups.The incidence of EUGR in VLBW preterm infants was assessed and the associated risk factors were analyzed.Independent samples t,Chi-square and rank sum tests and Logistic regression analysis were used for statistical analyses.Results A total of 107 VLBW infants survived to discharge.The average gestational age in the EUGR group was much lower than that in the non-EUGR group [(30.0±2.1) weeks vs (30.9 ± 1.1) weeks,t=2.904,P=0.002].However,the incidences of small for gestational age (SGA) and maternal hypertension in the EUGR group was higher than that in the non-EUGR group [SGA:53.7％ (36/67) vs 15.0％ (6/40),x2=15.575,P ＜ 0.01; maternal hypertension:40.3％ (27/67) vs 20.0％ (8/40),x2=4.689,P=0.030].Standard deviation score (SDS) of birth weight and weight at discharge in the EUGR group was lower than that in the non-EUGR group [SDS of birth weight:(--1.9±0.8) vs (--1.1±0.7),t=5.418; weight at discharge:-2.6 (-3.0--2.0) vs-0.5 (-0.9--0.1),U=30.271; both P ＜ 0.01].The velocity of weight gain in the EUGR group was lower than that in the non-EUGR group [(12.0±4.4) g/(kg · d) vs (16.1±4.0) g/(kg · d),t=1.879,P=0.036],while the maximum percentage of weight loss and the age at maximum weight loss in the EUGR group was higher than that in the non-EUGR group [percentage of weight loss:(13.2± 1.7)％ vs (9.0± 1.6)％,t=12.832,P ＜ 0.01; age:(13.4±3.5) vs (10.9±4.3) d,t=3.113,P=0.001].The time to achieve full enteral feeds,3 g/(kg · d) protein and 120 kcal/(kg · d) calories intake were longer in than the EUGR group [(39.7 ± 8.2) vs (30.8±6.1) d,t=6.293,P=0.007; (21.4±5.8) vs (17.5±1.3) d,t=4.286,P=0.002; (28.4±6.0) vs (20.3±5.4) d,t=7.198,P=0.015; 1 kcal=4.184 k J].The cumulative caloric deficit and cumulative protein deficit in the first two weeks of life in the EUGR group were significantly higher than those in the non-EUGR group [(600.9±49.3) vs (536.4 ± 55.2) kcal/kg,t=6.082,P ＜ 0.01; (17.4 ± 0.8) vs (12.4 ± 0.8) g/kg,t=31.279,P=0.003,respectively].The incidences of late-onset infection and bronchopulmonary dysplasia (BPD) in the EUGR group was significantly higher than that in the non-EUGR group [77.6％ (52/67) vs 40.0％ (16/40),x2=15.300,P ＜ 0.01;38.8％ (26/67) vs 17.5％ (7/40),x2=5.330,P=0.040,respectively].The length of oxygen therapy and mechanical ventilation in the EUGR group were significantly longer than that in the non-EUGR group [(44.5 ±4.5) vs (32.5± 1.5) d,t=20.042,P=0.030; 9.5(6.5-44.0) d vs 6.2(5.0-35.5) d,U=19.195,P=0.004,respectively].Logistic regression analysis showed that SGA,gestational age,BPD,late-onset infection,time to achieve full enteral feeds and 3 g/(kg · d) protein intake and the cumulative caloric deficit in the first two weeks after birth were the independent risk factors for EUGR (all P ＜ 0.05).Conclusions EUGR remains a serious issue in VLBW preterm infants,especially SGA,in the NICU.An early aggressive nutritional strategy,prevention of BPD and infection,and improvement of perinatal care may facilitate a reduction in the occurrence of EUGR.

Long-term medical education program requires that the medical students should ac-quire both professional knowledge and scientific research ability. These students,with heavy task and course,have difficulty in performing the scientific research systematically. It is very important to develop the early scientific research training. Department of pathology in Central South University,took early sci-entific research activities in various forms,such as literature searching,reviews writing,research design-ing,experiment performing,lecture communicating and clinical practicing after combining the discipline characteristic and arranging the overall process. Satisfactory effects were achieved with efforts.

Objective To analyze the methylation status of Vimentin gene in feces of colorectat cancer (CRC) patients,to explore the possibility and clinical significance of which as molecular marker for early diagnosis of colorectal cancer.Methods DNA was isolated in feces of 60 colorectal cancer patients hospitalized and treated in the First Affiliated Hospital of Zhengzhou University,17 colorectal adenoma patients underwent colon endoscopy in outpatient department and 30 normal volunteers.The methylation status of Vimentin gene was analyzed with methylation-specific PCR (MSP).Results In the feces of 60 colorectal cancer patients,the positive percentage of Vimentin gene methylation was 51.67％ (31/60).In the feces of 17 colorectal adenoma patients,the positive percentage of Vimentin gene methylation was 4/17.Vimentin gene methylation was detected in none of 30 normal controls.Conclusion The methylation of Vimentin gene in fecal is an early event in colorectal cancer progression.Analysis of Vimentin gene methylation in feces is expected to be one of the markers for early diagnosis of colorectal cancer.

Objective To investigate the impact of peritoneal albumin leakage on malnutrition-inflammation-atherosclerosis (MIA) syndrome in continuous ambulatory peritoneal dialysis (CAPD) patients. Methods A cross-sectional study of a cohort of 130 CAPD patients without edema or active infection was performed. In order to identify peritoneal transport characteristics in CAPD patients, a standard peritoneal equilibration test (PET) was carried out. For malnutrition and inflammation, serum albumin and high-sensitivity C-reactive protein (hs-CRP) levels were measured. Mean-carotid artery intima media thickness (IMT) was used to determine atherosclerosis. Residual glomerular filtration rate (rGFR) was defined as the average of 24-hour urinary urea and creatinine clearances. Results Pearson and Spearman correlation analysis showed that peritoneal albumin leakage amount was positively correlated with age, body mass index, night dwell time, blood glucose, 4 h D/P creatinine levels and hs-CRP levels (r=0.204, P<0.05 ;r=0.314, P<0.01; r=0.265, P<0.01; r=0.212, P<0.05; r=0.401, P<0.01; r=0.216, P<0.05); whereas it was negatively correlated with diastolic perssure, serum albumin levels, glucose level of dialyzate and peritoneal Kt/V (r=-0.209, P<0.05; r=-0.123, P<0.05; r=-0.271, P<0.01; r=-0.212, P<0.01). Overall, there was no correlation between peritoneal albumin leakage and IMT. Patients was significantly greater (P<0.01), and there was a positive correlation between peritoneal albumin leakage amount and IMT (r=0.650, P<0.01). Conclusions Peritoneal albumin leakage is significantly associated with peritoneal transport characteristics, malnutrition and inflammatory state in CAPD patients. High peritoneal albumin leakage amount is a risk factor for atherosclerosis in patients with rGFR less than 1 ml·min-1(1.73 m2)-1.