OBJECTIVE: To explore the genetic basis for a child with mental retardation. METHODS: Whole exome sequencing was carried out for the child. Candidate variant was screened based on his clinical features and verified by Sanger sequencing. RESULTS: The child was found to harbor a c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant in the SYNGAP1 gene. Bioinformatic analysis suggested it to be pathogenic. The same variant was not detected in either parent. CONCLUSION The c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant of the SYNGAP1 gene probably underlay the mental retardation in this child. Above finding has expanded the spectrum of SYNGAP1 gene variants and provided a basis for the diagnosis and treatment for this child.
Child ; Humans ; Intellectual Disability/genetics* ; Frameshift Mutation ; High-Throughput Nucleotide Sequencing ; Computational Biology ; Heterozygote ; Mutation ; ras GTPase-Activating Proteins/genetics*

Background::Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by complex and various clinical manifestations. The study aimed to analyze clinical features and cerebral magnetic resonance imaging (MRI) changes of hyperintense white matter (WM) lesions in SLE patients.Methods::This was a retrospective study based on a consecutive cohort of 1191 SLE patients; 273 patients for whom cerebral MRI data were available were enrolled to assess hyperintense WM lesions associated with SLE. Patients were assigned to two groups, ie, with or without hyperintense WM lesions. The MRI assessment showed that the hyperintense WM lesions could be classified into three categories: type A, periventricular hyperintense WM lesions; type B, subcortical hyperintense WM lesions; and type C, multiple discrete hyperintense WM lesions. The clinical and MRI characteristics were analyzed. Factors related to hyperintense WM lesions were identified by multivariate logistic regression analysis.Results::Among the 273 SLE patients with available cerebral MRI scans, 35.9% (98/273) had hyperintense WM lesions associated with SLE. The proportions of types A, B, and C were 54.1% (53/98), 11.2% (11/98), and 92.9% (91/98), respectively. Fifty-one percents of the patients showed an overlap of two or three types. Type C was the most common subgroup to be combined with other types. Compared with those without hyperintense WM lesions, the patients with hyperintense WM lesions were associated with neuropsychiatric SLE (NPSLE), lupus nephritis (LN), hypertension, and hyperuricemia ( P = 0.002, P = 0.018, P = 0.045, and P = 0.036, respectively). Significantly higher rates of polyserous effusions and cardiac involvement were found in the patients with hyperintense WM lesions ( P = 0.029 and P = 0.027, respectively), and these patients were more likely to present with disease damage ( P < 0.001). In addition, the patients with hyperintense WM lesions exhibited a higher frequency of proteinuria ( P = 0.009) and higher levels of CD8 + T cells ( P = 0.005). In the multivariate logistic analysis, hyperuricemia and higher CD8 + T cells percentages were significantly correlated with hyperintense WM lesions in SLE patients ( P= 0.019; OR 2.129, 95% confidence interval [CI] 1.313-4.006 and P < 0.001; OR 1.056, 95% CI 1.023-1.098, respectively). Conclusions::Hyperintense WM lesions are common in SLE patients and significantly associated with systemic involvement, including NPSLE, LN, polyserous effusions, cardiac involvement, and disease damage. Hyperuricemia and a higher number of CD8 + T cells were independent factors associated with hyperintense WM lesions in SLE.

Objective:To explore the clinical effects of autologous skin paste in repairing medium-thickness skin donor site wounds.Methods:The prospective randomized controlled research method was applied. From October 2018 to December 2019, 18 patients with flame burn or hydrothermal scald, conforming to the inclusion criteria were admitted to Jinhua Hospital Affiliated to Zhejiang University School of Medicine, including 15 males and 3 females, aged (45±6) years. The wounds were repaired with medium-thickness skin grafts from thigh, and the wound area was (121±33) cm 2 after medium-thickness skin grafting. The medium-thickness skin donor site wound in each patient was divided into 2 wounds in equal area and allocated into autologous skin paste group and conventional treatment group by flipping a coin, with 18 wounds in each group. The wounds in autologous skin paste group were repaired with skin paste prepared with remaining skin fragments after autologous medium-thickness skin grafting, and the wounds in conventional treatment group were covered with petroleum jelly gauze and fixed with sterile gauze. On 3, 7, 14, and 21 d after operation, the wound healing in 2 groups was observed, and the wound healing rate was calculated. The wound healing time in 2 groups was recorded. Occurrences of wound subcutaneous effusion and infection on 3, 7, 14, and 21 d after operation and wound ulceration in 3 months after operation were observed. In 6 months after operation, the Vancouver Scar Scale (VSS) was used to evaluate the scar formation of wounds in 2 groups. Data were statistically analyzed with analysis of variance for repeated measurement, chi-square test, and group t test. Results:The wounds in 2 groups did not heal on 3 and 7 d after operation. The wound healing rate in autologous skin paste group was (29.8±2.5)% and (95.6±4.7)% on 14 and 21 d after operation, which were significantly higher than (25.8±2.9)% and (82.6±8.9)% in conventional treatment group ( t=4.3, 5.6, P<0.01). The wound healing time in autologous skin paste group was (21.8±1.6) d, which was significantly shorter than (25.6±2.0) d in conventional treatment group ( t=6.24, P<0.01). On 3, 7, 14, and 21 d after operation, there were no complications such as subcutaneous effusion or infection in wounds of 2 groups. In 3 months after operation, ulceration occurred in wounds of 2 patients in autologous skin paste group, which was significantly less than 12 patients in conventional treatment group ( χ2=11.688, P<0.01). The ulcerated wounds healed after dressing changes. In 6 months after operation, the VSS score of wounds in autologous skin paste group was (9.1±1.1) points, which was significantly lower than (11.3±1.2) points in conventional treatment group ( t=-5.75, P<0.01). Conclusions:The remaining skin fragments after autologous medium-thickness skin grafting prepared into skin paste to repair medium-thickness skin donor site wounds can shorten wound healing time, improve wound healing quality, and reduce degree of scar hyperplasia, with a good clinical effect.

Objective:To examine the outcome of off-pump coronary artery bypass (OPCAB) in elderly patients with left ventricular dysfunction.Methods:From June 2008 to July 2016, 252 patients aged over 80 years underwent isolated OPCAB at Department of Cardiovascular Surgery, Beijing Anzhen Hospital, Capital Medical University, these patients′ data were collected. The left ventricular dysfunction group (ejection fraction (EF): 35% to 50%) was comprised of 31 patients aged (82.0±2.1) years (range: 80 to 88 years), including 25 males and 6 females. Through matching one-to-one on propensity scores, 31 patients (EF >50%) were included into the left ventricular normal group. Among them, there were 25 males and 6 females, aged (81.9±1.9) years (range: 80 to 89 years). Postoperative mortality and complications between the matched groups were compared using the t test, Wilcoxon rank-sum test, χ 2 test or Fisher exact test. Results:Between the dysfunction group and normal group, the preoperative serum creatinine was 144.6(66.0) μmol/L vs. 94.9(43.2) μmol/L ( M( Q R), Z=3.177, P=0.033), respectively, while the pre-discharge serum creatinine was 147.0(59.0) μmol/L vs. 92.0(24.0) μmol/L ( Z=-2.685, P=0.007), respectively. In dysfunction group, the perioperative intra-aortic balloon counterpulsation (IABP) utilization rate was higher (25.8%(8/31) vs. 3.2%(1/31), P=0.026), the total hospitalization day was longer (17(15) days vs. 14(8)days, Z=2.054, P=0.012), the preoperative hospitalization day was longer too (7(7) days vs. 5(4) days, Z=-2.457, P=0.014). However, there was no significant difference in the incidence of postoperative mortality (9.7%(3/31) vs. 3.2%(1/31), P=0.612) and other prognostic indicators between the two groups. Conclusions:The elderly patients, with light and moderate left ventricular insufficiency, are characterized by the abnormal increase in renal function and the rise of IABP utilization due to hemodynamic disorder in OPCAB perioperative period. Preoperative treatment for cardiac insufficiency may be the cause of prolonged preoperative and total hospital stay. However, there is no significant difference in the postoperative mortality and other complications compared with the patients of normal left ventricular function.

Objective:To examine the outcome of off-pump coronary artery bypass (OPCAB) in elderly patients with left ventricular dysfunction.Methods:From June 2008 to July 2016, 252 patients aged over 80 years underwent isolated OPCAB at Department of Cardiovascular Surgery, Beijing Anzhen Hospital, Capital Medical University, these patients′ data were collected. The left ventricular dysfunction group (ejection fraction (EF): 35% to 50%) was comprised of 31 patients aged (82.0±2.1) years (range: 80 to 88 years), including 25 males and 6 females. Through matching one-to-one on propensity scores, 31 patients (EF >50%) were included into the left ventricular normal group. Among them, there were 25 males and 6 females, aged (81.9±1.9) years (range: 80 to 89 years). Postoperative mortality and complications between the matched groups were compared using the t test, Wilcoxon rank-sum test, χ 2 test or Fisher exact test. Results:Between the dysfunction group and normal group, the preoperative serum creatinine was 144.6(66.0) μmol/L vs. 94.9(43.2) μmol/L ( M( Q R), Z=3.177, P=0.033), respectively, while the pre-discharge serum creatinine was 147.0(59.0) μmol/L vs. 92.0(24.0) μmol/L ( Z=-2.685, P=0.007), respectively. In dysfunction group, the perioperative intra-aortic balloon counterpulsation (IABP) utilization rate was higher (25.8%(8/31) vs. 3.2%(1/31), P=0.026), the total hospitalization day was longer (17(15) days vs. 14(8)days, Z=2.054, P=0.012), the preoperative hospitalization day was longer too (7(7) days vs. 5(4) days, Z=-2.457, P=0.014). However, there was no significant difference in the incidence of postoperative mortality (9.7%(3/31) vs. 3.2%(1/31), P=0.612) and other prognostic indicators between the two groups. Conclusions:The elderly patients, with light and moderate left ventricular insufficiency, are characterized by the abnormal increase in renal function and the rise of IABP utilization due to hemodynamic disorder in OPCAB perioperative period. Preoperative treatment for cardiac insufficiency may be the cause of prolonged preoperative and total hospital stay. However, there is no significant difference in the postoperative mortality and other complications compared with the patients of normal left ventricular function.

Objective To compare the lung volume before and after the operation for the treatment of chronic empyema with CT 3-dimensional imaging,and to evaluate its role in the assessment of pulmonary function. Methods A total of 78 patients with chronic empyema from 2000 to 2016 in our hospital were enrolled in this study.The patients were divided into two groups according to the operational styles,with 47 cases in the decortication group and 31 cases in the catheter drainage group respectively.Reformation of the chest CT data was used to determine the lung volumes and the routine pulmonary function tests(PFT)were performed before and after the operation. The lung volumes and the PFT results before and after the operation were compared between the two groups with t test. Then multiple linear regression analysis was applied to test the relationship between the lung volumes and the values of PFT after the operation. Results The mean lung volume of catheter drainage group was(1 548±467)cm3,while it was(1 418±802) cm3for the decortication group preoperatively(t=1.665,P=0.07).After the operation,the mean lung volume of decortication group was(2 677±815)cm3,while it was(2 169±185)cm3for the catheter drainage group. There was statistically significant difference for the increase of lung volume between the two groups after operation(t=2.371,P<0.05).There was no significant difference between the two groups before the operation for the values of the PFT(t=1.467 to 1.874,P>0.05). After the operation, the values of the PFT in the decortication group were higher than those in the catheter drainage group(t=1.990 to 2.799, P<0.05). The changes of postoperative lung volume were positively correlated with the values of the PFT(β=0.312 to 0.701,P<0.05). Conclusions Decortication has a better effect on the lung volume and the pulmonary function for patients suffered from chronic empyema. CT modeling (3-dimensional-imaging) is an effective method for evaluating the pulmonary function of postoperative lung according to the lung volume measurement.

OBJECTIVETo explore the clinical efficacy differences of scalp acupuncture on brain injury in premature infants with different months of age.

METHODSAccording to the corrected months of age, 90 cases of premature infants with brain injury were divided into a group A (3 through 6 corrected months of age), a group B (7 through 9 corrected months of age) and group C (10 through 12 corrected months of age), 30 patients in each one. Based on the conventional early intervention, the infants in the group A were treated with scalp acupuncture at , motor area; the infants in the group B were treated with scalp acupuncture at , motor area and foot motor sensory area; the infants in the group C were treated with scalp acupuncture at , motor area, foot motor sensory area and balance area. All the treatment was given once every other day, and totally 30 treatments were given. The Alberta infant motor scale (AIMS), development quotient (DQ) of each function indexes in Gesell developmental scale (GDS) were observed before and after treatment; the clinical efficacy of each group was compared and the correlation between clinical efficacy and months of age was analyzed.

RESULTSCompared before treatment, the total score of AIMS and DQ of each function indexes of GDS were all improved in the three groups after treatment (all <0.01). After treatment, the differences of total score of AIMS and DQ of each function indexes of GDS among the three groups were significant (<0.05, <0.01), and the results in the group A were higher than those in the group B and the group C (<0.05, <0.01). The total effective rate was 96.3% (26/27) in the group A, which was higher than 89.7% (26/29) in the group B and 83.3% (25/30) in the group C. The correlation analysis indicated less months of age was significantly corelated with better efficacy (<0.05).

CONCLUSIONScalp acupuncture has superior improvement on the recovery of brain damage in premature infants, especially for those with 6 months of age or less.

Objective To evaluate the relationship between quartz's deposit and expression of NF-κB in non-small cell lung cancer (NSCLC) lung tissues in Xuanwei, Yunnan Province, and to clarify the role of quartz in Xuanwei NSCLC's carcinogenic mechanism. Methods As research objects, the lung tissues of NSCLC and lung benign lesions after surgical resection were collected from July 2009 to September 2015 at the Third Affiliated Hospital of Kunming Medical University. Firstly, the transmission electron microscopic (TEM) with energy dispersive X-ray analyzer (EDS) was used for observation of crystalline deposit and local pathological changes. Secondly, expression level of NF-κB had been analysed and a correlation analysis with particle size of SiO2 crystal in the same lung sample was made. Results The occurrence rates of quartz in Xuanwei NSCLC lung tissues were above non-Xuanwei NSCLC and benign lung tissues (P<0.01);the average particle size of SiO2 crystal was (226 ± 120) nm × (237 ± 163) nm in Xuanwei NSCLC group and it was smaller than the other two groups; In Xuanwei NSCLC group, the expression level of NF-κB was significantly higher than non-Xuanwei and benign lung tissues (P< 0.01), but there was no significant difference between cancer tissues and normal lung tissues in the group (P>0.05). The expression level of NF-κB was generally increasing when quartz 's size became smaller. Conclusion Quartz 's deposit may play a certain role in carcinogenic mechanism of lung cancer in Xuanwei, the smaller the particle size, the greater the cytotoxicity.

Objective To investigate the diagnosis of the diseases that presented with childhood chronic cerebellar ataxia.Method The clinical data of 15 children with chronic cerebellar ataxia were studied,including the clinical features,laboratory results and neuroimaging aspect.Results Of the 15 children with chronic cerebellar ataxia,3 cases had chronic progressive cerebellar ataxia diagnosed as ataxia telangiectasia,and neuroimaging finding that indicated mild to marked cerebellar atrophy.The others 12 cases had non-progressive cerebellar ataxia,2 cases of them had Joubert syndrome,characterized by delayed motor function and speech,lower limbs ataxia and cerebellar vermis hypoplasia; 10 cases had ataxic cerebral palsy with delayed motor skills,9 of them had mental retardation and verbal problem.Of the 10 children with ataxic cerebral palsy,7 cases had cerebellar hemispheric atrophy by computer tomography (CT) or MRI,while the other 3 cases had no positive finding in cerebellum by MRI,but 2 of whom were found reduced metabolism in cerebellar neuron during the test of positron emission tomography and CT.Comparson with the scores in the gross motor function measure (GMFM) and developmental quotient (DQ) of 5 domains (adaption,gross motor,fine motor,language and social development) in Gesell developmental Schedules before and after the rehabilitation approach:the totaI scores in GMFM after the treatment (56.42 ± 15.65) was significantly higher than that of before traatment (44.15 ±20.41) (t =-3.121,P ＜0.05),while the DQ of gross motor after the treatment (28.27 ± 14.65) was sigrificantly lower than that before treatment (35.23 ± 17.23) (t =2.75,P ＜ 0.05).The other 4 domains before the treatment were 37.47 ± 14.47,37.06 ± 11.51,40.69 ± 12.10 and 40.41 ± 15.79,and had no remarkable change after the treatment (39.44 ±16.29,35.96 ±10.76,40.26 ±14.20 and 38.61± 11.95) (allP＞0.05).Conclusions Children with chronic cerebellar ataxia presented as hypotonia with delayed motor function,and ususlly had inherent cerobellum abnormalities,without matter structure or function of the neuron.Chronic ataxia is an important symptom in genetic or metabolic disease,and a systematic approach may enhance diagnostic accuracy.

International Classification of Functioning, Disability and Health issued by the World Health Organization is the international general theoretical framework for describing and measuring healthy on individual and population level, which the evaluation for cerebral palsy should follow with. This paper discussed the tools of evaluation for cerebral palsy in the view of ICF, especially the 4 dimensions of body function, body structure, activities and participation, and environmental factors.