Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of CS.Methods Two fetuses with CS confirmed by genetic examination were retrospectively analyzed,while 6 CS fetuses with complete prenatal ultrasonic data in literature were reviewed.Prenatal ultrasonic characteristics of CS fetuses and the method for prenatal diagnosis of CS were discussed.Results Among 8 CS fetuses diagnosed with prenatal ultrasound,4 were female singletons with a clear family history of CS,and MNX1 gene mutation was found in 1 fetus.The other 4 fetuses were 2 pairs of male monochorionic twins,all with MNX1 gene mutation.Among 8 CS fetuses,complete triad(sacral agenesis abnormalities,anorectal malformation and presacral mass)were displayed only in 2 fetuses,while all 8 had sacral agenesis abnormalities and 6(6/8,75.00％)were detected with prenatal ultrasound,6 had low location of conus medullaris and 2(2/6,33.33％)detected with prenatal ultrasound.Conclusion Prenatal ultrasound was the first choice for non-invasive diagnosis of fetal CS.When one of sacral agenesis abnormalities,anorectal malformation and presacral mass was found with prenatal ultrasound,the possibility of CS should be considered,and fetal MRI,genetic examination and prenatal genetic counselling should be recommended if necessary.

Neutrophil elastase(NE),a major protease in the primary granules of neutrophils,is involved in microbicidal activity.NE is an important factor promoting inflammation,has bactericidal effects,and shortens the inflammatory process.NE also regulates tumor growth by promoting metastasis and tumor microenvironment remodeling.However,NE plays a role in killing tumors under certain conditions and promotes other diseases such as pulmonary ventilation dysfunction.Additionally,it plays a complex role in various physiological processes and mediates several diseases.Sivelestat,a specific NE inhibitor,has strong potential for clinical application,particularly in the treatment of coronavirus disease 2019(COVID-19).This review discusses the pathophysiological processes associated with NE and the potential clinical applications of sivelestat.

Objective To investigate the effects of titanium miniplates used for anchorage between the maxilla and the mandible for maxilly hypoplasia in cleft patients.Methods Miniplates were inserted into the infrazygomatic crests and between the canine and lateral incisor in the mandible on both the right and left sides in 6 subjects (mean age,11.3 years).Maxillomandibular elastics were attached between the upper and lower miniplates on each side.Cephalometric radiographs of each patient were evaluated at the beginning of treatment and at the end of active protraction treatment.Results A-point movement was increased mean 3.67 mm,SNA angle and ANB angle were increased by 2.75° and 3.1° respectively.Wit's appraisal was increased by 4.52 mm,and upper lip to E-plane was decreased mean 2.8 mm in a mean of 15 months and the significant difference was found (P＜0.05).Miniplates stability was excellent in all patients throughout treatment.Conclusions Remarkable advancement in the middle face and consequent fullness in the soft-tissue profile can be achieved by using titanium miniplates protraction for maxilly hypoplasia in cleft patients in the late mixed-dentition and initial stage of permanent dentition period.

Objective To investigate the characteristics of activation-induced cytidine deaminase (AID) expression level in de novo acute leukemia (AL) patients, chronic myeloid leukemia chronic phase (CML-CP), chronic myeloid leukemia blastic crisis (CML-BC) patients and leukemia cell lines. Methods The expression level of AID mRNA was measured in 89 cases of newly-diagnosed acute lymphoblastic leukemia (ALL) patients, 79 cases of de novo acute myeloid leukemia (AML) patients, 5 cases of CML-BC patients, 5 cases of CML-CP patients and leukemia cell lines NB4, THP-1, KG-1, Raji, K562 by real-time quantitative reverse transcriptase polymerase chain reaction (RT-PCR), bone marrow mononuclear cells of 16 normal healthy donors were used as the control group. Results The expression levels of AID mRNA in 89 cases of ALL and 79 cases of AML were 0.006-7 463.175 and 0.005-69.107, the median expression levels were 3.785 and 1.812, the expression level of AID mRNA in the normal control group was 0.146-4.707, and the median expression level was 1.483, respectively. The AID expression levels of ALL, B-ALL, Burkitt leukemia, M4 patients and Raji cells were significantly higher than those of the normal control group (all P <0.05). Nevertheless, the AID mRNA expression levels of M3 patients and NB4, KG-1 cells were lower than those of the normal control group (all P <0.05). Furthermore, the AID mRNA expression levels of K562 cell were strikingly higher than that of the CML-CP patients (P<0.001), so were those of CML-BC, chronic myeloid leukemia myeloid blast crisis (CML-MBC), chronic myeloid leukemia lymphoblastic blast crisis (CML-LBC) patients. Conclusion AID gene shows high expression level in B-ALL, Burkitt leukemia and M4, low expression level in M3 and KG-1 cells, and obvious high expression level in CML-BC.

Objective To retrospectively analyze echocardiography findings and left hearst function in patients with patent ductus arteriosus (PDA) after transcatheter closure. Methods 28 patients admitted between January 2012 and December 2012 in our hospital for PDA transcatheter closure were included. Assessment of cardiac structure, hemodynamics and cardiac function parameters during preoperation and in postoperation 3 days, 1 month and 6 months were studied. Results Statistical significant difference was found at 3 days, 1 month and 6 months postoperation when compared with pre-operation in terms of left atrial diameter, left ventricular end-diastolic diameter, left ventricular end systolic diameter and other doppler measurements ( all P < 0. 05 ) . Six-minute walk test ( 6MWT) tolerance improved when compared to preoperation level (P < 0. 05). Better improvement in LVEF and LVES was observed in patients age ≤14 years old when compared to patients > 14 years old after operation ( P < 0. 05 ) . Conclusions Transcatheter closure of PDA can improve cardiac function and correct early hemodynamic abnormalities patients in younger age group show more benefit from the procedure.

Objective To observe over-time changes in rat blood flow in the skins of related meridian points during physiological status, the pathological state of ischemic myocardial injury and low or high frequency electroacupuncture intervention and explore the post effect of different frequency electroacupuncture on related meridian points after treating ischemic myocardial injury. Method Fifty male Wister rats were randomized into five groups: blank control, sham operation, model, low frequency electroacupuncture (meridian point A) and high frequency electroacupuncture (meridian point B), 10 rats each. Blood flow in the skins of bilateral points Neiguan (PC6), Ximen (PC4) and Tianquan (PC2), and non-meridian and non-acupoint control points was measured by laser speckle contrast imaging in every group immediately and at 30 and 60 min after the end of three treatments. Statistical analysis was made. Result Blood flow in the skins of bilateral points Neiguan, Ximen and Tianquan was significantly lower in the blank control group than in the model group (P<0.01,P<0.05). Blood flow in the skin of every acupoint increased in varing degrees after low or high frequency electroacupuncture treatment. Blood flow in bilateral points Neiguan, Ximen and Tianquan regions in meridian point group A was closer to that in the blank control group immediately after treatment. Blood flow in three left-side and three right-side acupoint regions in meridian point group B was closer to that in the blank control group at 30 and 60 min, respectively, after treatment. Conclusion The immediate effect of low frequency electroacupuncture on blood flow in acupoint regions is better than high frequency electroacupuncture during intervention in ischemic myocardial injury. The post effect of high frequency electroacupuncture on blood flow in acupoint regions is better than low frequency electroacupuncture during intervention in ischemic myocardial injury.

Objective To explore one mechanism of therapeutic action of electroacupuncture on Alzheimer’s disease (AD), that is, improving the way to eliminate cerebral microvascular Ab by investigating the effect of electroacupuncture on hippocampal microvascular Ab deposition and learning and memory abilities in APP/PSI double transgenic mice. Method Twenty-four 7-month-old male APP/PSI double transgenic mice were randomized into model and electroacupuncture groups, 12 mice each. Same sex transgene-negative littermate mice (12 mice) constituted a blank control group. The electroacupuncture group received electric acupuncture at points Baihui (GV20) and Yongquan (KI1), 15 min once every other day, for a total of six weeks. After treatment, mouse learning and memory abilities were tested using the Morris water maze. The expressions of Ab 1-40 and Ab 1-42 in the hippocampal microvascular wall and senile plaque were determined by immunohistochemical method. Hippocampal microvascular Ab-positive expression was semi-quantitatively analyzed using the Imagine Pro Plus software. Result The Morris water maze test showed that escape latency lengthened (P<0.05), and the number of crossing platform and swimming time in the platform quadrant decreased (P<0.05) in the model group compared with the blank control group. Escape latency shortened (P<0.05), and the number of crossing platform and swimming time in the platform quadrant increased (P<0.05) in the electroacupuncture group compared with the model group. The immunohistochemical results showed that hippocampal microvascular Ab 1-42 and Ab 1-40 integral optical densities were higher in the model group than in the blank control group (P<0.05) and senile plaques appeared in the hippocampus. Hippocampal microvascular Ab 1-42 and Ab 1-40 integral optical densities were lower in the in the electroacupuncture group than in the model group (P<0.05). Conclusion Electroacupuncture reduces mouse learning and memory impairments and hippocampal microvascular Ab deposition. Its mechanism may be that electroacupuncture improves the way of eliminating cerebral microvascular Ab to decrease cerebral Ab deposition.

Objective To explore the effect of Governor Vessel electroacupuncture in different time points on motor function and p75 neurotrophin receptor (p75NTR) after spinal cord injury. Methods A total of 180 adult male Sprague-Dawley rats were randomly divided into three groups (one day, three days and seven days after modeling), and each group was divided into normal control group, normal electroacupuncture group, sham operation group, model group and Governor Vessel electroacupuncture group with 12 cases in each group. The spinal cord injury model was established with the modified Allen's method. The normal electroacupuncture group and the Governor Vessel electroacupuncture group received electroacupuncture on Dazhui (DU14) and Mingmeng (DU04) acupoints. Basso-Beattic-Bresnahan (BBB) Scale was performed to assess the motor function of rats. The expression of p75NTR was detected with Western blotting. Results The BBB score of the model group and the Governor Vessel electroacupuncture group were significantly lower than that of the other three groups. The BBB score was significantly higher in the Governor Vessel electroacupuncture group than in the model group seven days after intervention (t=-4.510, P<0.001). The expression of p75NTR was siginificantly lower in the Governor Vessel electroacupuncture group than in the model group (P<0.01). Conclusion The expression of p75NTR increased after spinal cord injury. Governor Vessel electroacupuncture could improve the motor function, and inhibit the p75NTR expression of damaged spinal cord tissues.

OBJECTIVETo assess the value of chromosome microarray analysis (CMA) for identifying the etiology of patients with congenital cleft lip and palate.

METHODSTwenty-two patients with no identifiable chromosomal aberrations by conventional cytogenetic technique were selected. DNA was extracted and hybridized with Affymetrix CytoScan(TM) HD arrays following the manufacturer's protocol. The data were analyzed with a CHAS v2.0 software.

RESULTSCMA analysis has identified submicroscopic copy number variants (CNVs) in all of the cases, which have ranged from 100 kb to 1.8 Mb. Potential pathogenic CNVs were identified in 5 patients (22.7%), which involved microdeletions and microduplications on 8p23.1, 10q22.2-q22.3, 6q26, 20p12.1 and 18q12.3. MYST4, MACROD2 and SOX7 genes are likely the causative genes.

CONCLUSIONCMA is an effective method for identification of etiology in patients with cleft lip and palate. CMA should be provided for patients with cleft lip and palate but a normal karyotype. Especially for those with additional structural abnormalities, there is a high risk for submicroscopic chromosomal aberrations.

Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; genetics ; Cleft Lip ; diagnosis ; genetics ; Cleft Palate ; diagnosis ; genetics ; DNA Copy Number Variations ; Female ; Humans ; Infant ; Male ; Microarray Analysis

Objective The purpose of this study was to evaluate the outcome of autogenous bone grafts in unilateral cleft lip and palate patients following early orthodontic tooth movement,and to determine the volume of new bone formation in the bone grafted region with spiral computed tomography.Methods Computed tomography scans of 12 patients were taken immediately preoperatively and at 6 months postoperatively.The patients underwent bone grafting between 9 and 13 years of age were divided into two groups based on whether postoperative orthodontic tooth movement were initiated or not.Three-dimensional models were created in each period,and the defect of alveolar cleft and volume of the newly formed bone were calculated in each patient.The roots of the moved teeth and their positions to the alveolar bone were also observed.Results The preoperative cleft width and cleft volume were not significantly different between both groups.The volume of the newly formed bone in group A was (0.98±0.23) mm3,significantly higher than that in group B,which was (0.73± 0.15) mm3.The rate of newly formed bone in group A was (72.5 ± 11.9)％,significantly higher than that in group B,which was (53.2±9.7)％.The cleft adjacent teeth could move smoothly into the bone grated area,with no root resorption observed in the computed tomography scans.Conclusions Early orthodontic tooth movement can reduce bone resorption in autogenous bone grafted unilateral cleft lip and palate patients through the observation of spiral computed tomography.It plays an active role in the bone remolding process after bone grafting.