The clinical features, examination findings and genetic testing results of a newborn with neurobehavioral developmental abnormality caused by the PAK3 gene mutation in the Department of Neonatology, Anhui Provincial Children′s Hospital were retrospectively analyzed in November 11, 2021.The male 9-day-old newborn presented with the difficult-to-wean for 9 days after birth.The child had repeated startle reflexes, decreased muscle tension in the extremities, and partial primitive reflexes.Amplitude-integrated electroencephalogram (aEEG) showed the lower and upper boundary voltage of 10 μV and 40 μV, respectively.Obvious mature sleep-wake cycles were not found, and 2 electric seizures were recorded.The aEEG suggested the moderate-to-severe abnormal aEEG.Magnetic resonance imaging showed that the corpus callosum was slightly thinner.The family-centered diagnostic exosome sequencing showed a missense mutation of the PAK3 gene[c.1327 (exon18) G>A, p.G443R], which has not been previously reported at home and abroad.This case enriched the clinical phenotype of the PAK3 gene mutation and suggested the potential value of whole genome sequencing in clinical diagnosis and genetic guidance.

OBJECTIVE To explore the effects of pterostilbene （PTE） on wound healing in diabetic skin ulcer model rats and its mechanism. METHODS Ten SD rats were grouped into control group； after diabetic skin ulcer model of other rats was induced by giving high-fat and high-sugar diet+intraperitoneal injection of streptozotocin+cutting off the skin and subcutaneous tissue in the marked area of the back， model rats were randomly divided into model group， PTE low-dose group （40 mg/kg）， PTE high-dose group （80 mg/kg）， PTE high-dose+PP2 group （80 mg/kg PTE+2 mg/kg SRC inhibitor PP2）， with 10 rats in each group. On the second day after modeling， the rats in each drug group were intraperitoneally injected with corresponding drug solutions， while the rats in control group and model group were intraperitoneally injected with normal saline， once a day， for 14 consecutive days. The wound healing rate of rats in each group was measured on the 7th and 14th day of administration； the contents of interleukin-1β （IL-1β）， IL-6， tumor necrosis factor-α （TNF-α） and vascular endothelial growth factor （VEGF） in the serum of rats were detected； the pathological changes of wound granulation tissue were observed， and the expressions of SRC/mitogen-activated protein kinase kinase （MEK）/extracellular signal-regulated kinase （ERK） signaling pathway-related proteins in wound granulation tissue were detected. RESULTS Compared with control group， the wound healing rate， serum content of VEGF， the phosphorylation levels of SRC， MEK1/2 and ERK1/2 were decreased significantly （P＜0.05）， while serum contents of IL- 1β， IL-6 and TNF-α were increased significantly （P＜0.05）； there was obvious infiltration of inflammatory cells in the wound granulation tissue， and the number of new blood vessels decreased. Compared with model group， above indexes of PTE low-dose and high-dose groups were improved significantly （P＜0.05）， and the pathological injury of granulation tissue in wound was improved. PP2 significantly reversed the improvement effects of PTE on the above indexes （P＜0.05）. CONCLUSIONS PTE can promote the wound healing of diabetic skin ulcer model rats， the mechanism of which may be related to activating SRC/MEK/ERK signaling pathway.

Discipline evaluation is an important measure to promote the virtuous circle of discipline construction, and is an indispensable link in the process of discipline development in public hospitals. After becoming a directly affiliated hospital of a " double first-class" university, in order to improve the comprehensive strength and influence, a hospital built and applied a disciplinary evaluation system in four directions: talent construction, clinical medicine, scientific research ability, and teaching work. According to the evaluation results, the hospital′s disciplines were divided into three categories, namely, advantageous disciplines, cultivating disciplines and potential disciplines, and development strategies were established at different levels, providing policy support and financial support, especially in the field of scientific research and teaching, to accelerate to make up for shortcomings. Through exploration and practice, the talent team, scientific research and teaching level, discipline reputation, and comprehensive strength of the hospital had been significantly improved, providing effective support for the high-quality development of the hospital.

Objective :To study influence of health management mode on poor living habits and incidence rate of relat—ed complications in aged patients with coronary heart disease (CHD).Methods : Medical data of 259 aged CHD pa—tients in our hospital from Jan 2013 to Dec 2016 were collected .Health management mode was performed in our hospital since Jan 2015 ,therefore ,according to treatment time ,patients were divided into CHD control group (n＝114) and health management group (n＝ 140 ) ,both groups were intervened for continuous six months .Scores of self—rated abilities for health practices scale (SRAHP ) and Seattle angina questionnaire (SAQ ) ,levels of fasting blood glucose (FBG) ,blood pressure and blood lipids before and after intervention ,incidence of complications and mortality during follow—up were measured and assessed between two groups .Results :Compared with before interven—tion ,after six—month intervention , there were significant rise in each item score and total scores of SRAHP and SAQ ,and significant reductions in levels of FBG ,SBP ,DBP ,TC and TG in two groups , P＝0. 001 all.Compared with CHD control group after six—month intervention ,there were significant rise in each item score and total score of SRAHP [(82. 95 ± 18.24) scores vs .(91.91 ± 20.23) scores] ,each item score and total score of SAQ [(64. 90 ± 14. 29) scores vs .(72. 15 ± 15.87) scores] ,and significant reductions in levels of FBG [(5.51 ± 1.21) mmol／L vs. (5. 14 ± 1. 13)mmol／L] ,SBP[(121.07 ± 14.52) mmHg vs.(116. 72 ± 14. 01) mmHg] ,DBP [(80. 23 ± 9.63) mmHg vs.(77. 62 ± 9.31)mmHg] ,TC[(4. 31 ± 0.65)mmol／L vs.(4. 11 ± 0. 61) mmol／L] and TG[(1.45 ± 0. 21) mmol／L vs.(1. 39 ± 0.21)mmol／L] in health management group , P＜0. 05 or ＜0. 01. During follow—up ,incidence rates of recurrent angina pectoris (21.4% vs.35.3%) ,heart failure (2. 1% vs.7.6%) and myocardial infarction (3. 6%vs.10. 1%) in health management group were significantly lower than those of CHD control group , P＜0.05 all. Conclusion :Health management mode can enhance health behavior ,correct poor living habits ,stabilize blood glu—cose ,blood lipid and blood pressure ,and reduce incidence rate of related complications in aged CHD patients .

Objective To explore the factors affecting methylphenidate (MHP)efficacy in children with attention deficit hyperactivity disorder (ADHD). Methods One hunadard eleven DSM-Ⅳ defined ADHD patients were enrolled for 6 weeks systemic MHP titration treatmnet. ADHD Rating Scale-Ⅳ Home Version (ADHD-RS-Ⅳ) were applied as index of clinical efficacy, and Continuous Performance Task (CPT) as index of cognition efficacy. Determining potential influential factors was analyzed on MPH efficacy including demographic,baseline clinical symptoms and cognitive factors. Results Sixty-five (59.1%) were defined as responders and 45 (40.9%) as non-reponders to MHP, respectively. CPT which were conducted in 87 patient showed that 35 (40.2%) were defined as responders on commission errors, 31 (35.6%) on omission errors and 10 (11.5%) on reaction time. Logistic analysis revealed two potential influential factors that predicted better clinical efficacy (P<0.05): better parental relationship (OR=3.516, 95% CI: 1.087~11.375) and baseline ADHD-RS-Ⅳ score above 35 points (OR=3.075, 95%CI: 1.131~8.359). Higher IQ score was the potential influential factor that predicted better commission errors efficacy (OR=1.085, 95%CI: 1.013~1.162) and omission errors efficacy (OR=1.078, 95%CI: 1.008~1.153). Conclusion MHP efficacy may result in better outcomes in children with ADHD who have higher baseline ADHD-RS-Ⅳ score, poorer baseline CPT result, younger onset age, higher IQ and better parental relationship.

Objective To observe the effect of obstructive sleep apnea hypopnea syndrome (OSAHS) on the renal function in patients with type 2 diabetes mellitus (T2DM).Methods Sleep apnea hypopnea index (AHI), oxygen desaturation index (ODI), and nighttime lowest oxygen saturation (LSaO2) were evaluated in 298 patients with T2DM using a portable sleep apnea monitor.Patients were divided into T2DM without OSAHS group (n=120) and with OSAHS group (n=178) according to AHI<5.Patients were divided into 3 groups according to estimated glomerular filtration rate (eGFR): eGFR>90 ml·min-1·(1.73 m2)-1 (n=190), 90>eGFR>60 ml·min-1·(1.73 m2)-1 (n=84), eGFR<60 ml·min-1·(1.73 m2)-1 (n=24).The influencing factors of eGFR and AHI were analyzed by logistic regression analysis.Results There were significant differences in eGFR, uric acid (UA), high density lipoprotein-cholesterol (HDL-C), waist circumference, hip circumference, body mass index (BMI), and urinary albumin between T2DM without OSAHS and with OSAHS groups(all P<0.05).eGFR showed a significant correlation with AHI(r=-0.154, P=0.008), ODI(r=-0.236,P<0.01),and LSaO2(r=0.145, P=0.024).Logistic regression revealed that eGFR(OR=0.991, 95%CI 0.983~0.998, P=0.014), BMI(OR=1.107, 95%CI 1.028~1.193, P=0.008)were independent risk factors for AHI.There were significant differences in age, urinary albumin, AHI, ODI, LSaO2 among groups with various eGFR levels (P<0.05).Stepwise regression showed that age(β=-0.456, 95%CI-0.571~-0.346,P<0.01)and AHI(β=-0.119, 95%CI-0.226~-0.007,P=0.037) were independent risk factors for eGFR.Conclusions OSAHS is a risk factor for renal impairment in patients with T2DM.

Objective:To explore the effects of Bailing capsules combined with salvianolate on inflammatory cytokines, renal vas-cular endothelia and renal function in diabetic nephropathy inⅣphase. Methods:Totally 60 patients with diabetic nephropathy in IV phase were randomly divided into the control group (30 cases) and the treatment group (30 cases). The control group was given the conventional and salvianolate therapy, and the treatment group was treated with Bailing capsules additionally. The treatment course was 3 months. The changes of serum creatine(SCr), urean itrogen (BUN), creatinine clearance rate (Ccr), ethelin (ET-1), interleukin-6 (IL-6), tumor necrosis factor (TNF-a) and C-reactive protein (CRP) were detected before and after the treatment. Results:After the 3-month treatment, SCr, BUN, IL-6, TNF-a, CRP and ET-1 were significantly decreased in the two groups with statistical signifi-cance, and Ccr was significantly increased in the treatment group (P<0. 05), and the changes in the treatment group were significant-ly better than those in the control group (P<0. 05). After the treatment, the blood glucose, blood lipids, glycosylated hemoglobin and the other indicators had no significant changes in the two groups (P>0. 05). There was no significant difference in the incidence of adverse drug reactions between the two groups (P>0. 05). Conclusion:The combination of Bailing capsules and salvianolate can re-duce the inflammatory reaction and improve renal vascular endothelial function and renal function in the patients with diabetic nephrop-athy in Ⅳ phase with promising safety and few adverse reactions.

BACKGROUND:Cleft palate repair with levator veli palatini retropositioning can achieve good effects on pharyngeal function and voice quality by dissecting the muscle and rebuilding the muscle function only at the incision, without opening the mucoperiosteal flap, OBJECTIVE: To investigate the clinical effects of cleft palate repair with levator veli palatini retropositioning versus traditional surgery treatment on speech disorder correction. METHODS:Totaly 176 children with cleft palate were randomly assigned into treatment group and control group, 88 cases in each group. Patients were subjected to traditional surgery treatment in the control group and levator veli palatini retropositioning in the treatment group. RESULTS AND CONCLUSION:The postoperative speech inteligibility in the treatment group and the control group were 81.8% and 54.5%, respectively, and there was a significant difference between the two groups (P < 0.05). After cleft palate repair, the folowing indicators were al improved in the two groups, including soft palate functional length at static state and when pronouncing, and soft palate elevation angle (P < 0.05), and moreover, these indicators were better in the treatment group than the control group (P < 0.05). Scores on high nasal tone and rhinorrhea tone were decreased significantly in the two groups after repair, and the scores were significantly lower in the treatment group than the control group (P < 0.05). These findings indicate that cleft palate repair with levator veli palatini retropositioning can effectively rebuild soft palate function and perfect velopharyngeal competence in patients, which is of great significance for speech disorder correction and voice quality recovery.

Succinic acid is an important C4 platform chemical in the synthesis of many commodity and special chemicals. In the present work, different compounds were evaluated for succinic acid production by Actinobacillus succinogenes GXAS 137. Important parameters were screened by the single factor experiment and Plackeet-Burman design. Subsequently, the highest production of succinic acid was approached by the path of steepest ascent. Then, the optimum values of the parameters were obtained by Box-Behnken design. The results show that the important parameters were glucose, yeast extract and MgCO3 concentrations. The optimum condition was as follows (g/L): glucose 70.00, yeast extract 9.20 and MgCO3 58.10. Succinic acid yield reached 47.64 g/L at the optimal condition. Succinic acid increased by 29.14% than that before the optimization (36.89 g/L). Response surface methodology was proven to be a powerful tool to optimize succinic acid production.
Actinobacillus ; classification ; genetics ; metabolism ; Bioreactors ; Culture Media ; metabolism ; Fermentation ; Glucose ; metabolism ; Industrial Microbiology ; methods ; Succinic Acid ; metabolism

Objective To investigate the indication, feasibility and technique of minimally invasive nuss procedure with thoracoscope by using double braces in the treatment of wide-scope pectus excavatum repairing in adolescence. Methods 31 patients including 24 boys and 7 girls, suffered from pectus excavtum were corrected by nuss procedure under thoracoscope.The average age was (15.32 ± 3.89)years (ranged, 14 years and 18 years). All cases were moderate to severe degree according to Hallar index with depression scope of 4 ribs or more. A couple of braces of two-point or multipoint fixation for thoracoscopic-assisted nuss procedure were used. Results The procedure was successfully completed under thoracoscopy in all patients. Double braces were utilized in 27 cases, double are bars were required in 4 cases, and multipoint fixations were in 6 patients. The postoperative hospital stay was 5-11 days [average, ( 7.48 ± 1.95 ) days]. The duration of following up was one month to three years. The perioperative complications included intraoperative hemorrhage in 2 patients, bar invertion with displacement in 1, and interrupted pain for two months in 1. All patients recovered after expectant treatment. Conclusion Nuss procedure with double braces for the correction of a large area of asymmetric pectus excavatum under thoracoscopy is safe and effective technique for adolescence.