Primary hyperoxaluria type 1 (PH1) is a rare but devastating autosomal recessive inherited disease caused by mutations in gene AGXT. Pathogenic mutations of AGXT were mostly reported in Caucasian but infrequently in Asian, especially in Chinese. To update the genotypes of PH1 in the Chinese population, we collected and identified 7 Chinese probands with PH1 from 2013 to 2017 in our center, five of whom had delayed diagnosis and failed in kidney transplantation. Samples of peripheral blood DNA from the 7 patients and their family members were collected and sequencing analysis was performed to test the mutations of gene AGXT. Western blotting and enzyme activity analysis were conducted to evaluate the function of the mutations. Furthermore, a systematic review from 1998 to 2017 was performed to observe the genetic characteristics between Chinese and Caucasian. The results showed that a total of 12 mutations were identified in the 7 pedigrees. To the best of our knowledge, 2 novel variants of AGXT, p.Gly41Trp and p.Leu33Met, were first reported. Bioinformatics and functional analysis showed that only 7 mutations led to a reduced expression of alanine-glyoxylate amino transferase (AGT) at a protein level. The systematic review revealed significant population heterogeneity in PH1. In conclusion, new genetic subtypes and genetic characteristics of PH1 are updated in the Chinese population. Furthermore, a genotype-phenotype correlation is found in PH1.

Diabetic kidney disease (DKD) is a microvascular complication of type 2 diabetes. The study of DKD mechanisms is the most important target for the prevention of DKD. Renal senescence is one of the important pathogeneses for DKD, but the mechanism of renal and cellular senescence is unclear. Decreased expression of circulating miR-126 is associated with the development of DKD and may be a promising blood-based biomarker for DKD. This study is to probe the effect and mechanism of miR-126 on the aging of human glomerular mesangial cells (HGMCs) induced by high glucose. HGMCs were cultured with Roswell Park Memorial Institute (RPMI-1640) in vitro. The effect of high glucose on morphology of HGMCs was observed 72 h after intervention. The cell cycle was examined by flow cytometry. The telomere length was measured by Southern blotting. The expression levels of p53, p21 and Rb proteins in p53-p21-Rb signaling pathway and p-stat1, p-stat3 in JAK/STAT signaling pathway were detected by Western blotting respectively. The expression of miR-126 was examined by qRT-PCR. MiR-126 mimics was transfected into HGMCs. The effects of miR-126 mimics transfection on cell morphology, cell cycle, telomere length, p53, p21, Rb, p-stat1 and p-stat3 were observed. The results showed that high glucose not only arrested the cell cycle in G1 phase but also shortened the telomere length. High glucose led to high expression of p53, p21, Rb, p-stat1 and p-stat3 and premature senescence of HGMCs by activating the telomere-p53-p21-Rb and JAK/STAT signaling pathways. Moreover, the miR-126 was decreased in HGMCs induced by high glucose. It was suggested that the transfection of miR-126 mimics could inhibit the telomere-p53-p21-Rb and JAK/STAT signaling pathway activity in vitro and delay the senescence of HGMCs. The results may serve as a new strategy for the treatment of DKD.

A tissue engineering model of heart valve calcification induced in a bioreactor was established to evaluate the calcification induced by abnormal mechanical stimulation and explore the underlying molecular mechanisms. Polyethylene glycol (PEG)-modified decellularized porcine aortic leaflets seeded with human valve interstitial cells (huVICs) were mounted on a Ti-Ni alloy frame to fabricate two-leaflet and threeleaflet tissue engineered valves. The two-leaflet model valves were exposed to abnormal pulsatile flow stimulation with null (group A), low (1000 mL/min, group B), medium (2000 mL/min, group C), and high velocity (3000 mL/min, group D) for 14 days. Morphology and calcification were assessed by von Kossa staining, alkaline phosphatase (ALP) content, and Runx2 immunostaining. Leaflet calcification and mRNA and protein expression of transforming growth factor (TGF)-β1, bone morphogenetic protein 2 (BMP2), Smad1, and MSX2 were measured at different time points. ALP content was examined in two-leaflet valves seeded with BMP2 shRNA plasmid-infected huVICs and exposed to the same stimulation conditions. The results showed that during 14 days of flow stimulation, huVICs on the leaflet surface proliferated to generate normal monolayer coverage in groups A, B, and C. Under mechanical stimulation, huVICs showed a parallel growth pattern in the direction of the fluid flow, but huVICs exhibited disordered growth in the high-velocity flow environment. von Kossa staining, ALP measurement, and immunohistochemical staining for Runx2 confirmed the lack of obvious calcification in group A and significant calcification in group D. Expression levels of TGF-β1, BMP2, and MSX2 mRNA and protein were increased under fluid stimulation. ALP production by BMP2 shRNA plasmid-infected huVICs on model leaflets was significantly reduced. In conclusion, abnormal mechanical stimulation in a bioreactor induced calcification in the tissue engineering valve model. The extent of calcification correlated positively with the flow velocity, as did the mRNA and protein levels of TGF-β1, BMP2, and MSX2. These findings indicate that TGF-β1/BMP2 signaling is involved in valve calcification induced by abnormal mechanical stimulation.

Clinically, coronary artery bypass grafting (CABG) or percutaneous coronary intervention (PCI) is generally used to treat patients with ischemic heart failure. However, the optimal treatment strategy remains unknown. This study examined the efficacy of the two coronary revascularization strategies for severe ischemic heart failure by using a meta-analysis. Studies comparing the efficacy of CABG and PCI were obtained from PubMed, EMBASE, Google Scholar and Cochrane Central Register of Controlled Trials (CENTRAL). The quality of each eligible article was evaluated by Newcastle-Ottawa Quality Assessment Scale (NOS), and the meta-analysis was performed using Stata version 12.0 software. Eventually, 12 studies involving 9248 patients (n=4872 in CABG group; n=4376 in PCI group) were subject to the meta-analysis for subsequent pooling calculation. The pooled hazard ratio (HR) [HR=0.83, 95% CI (0.76, 0.90), P<0.001; heterogeneity, P=0.218, I²=22.9%] of CABG compared with that of PCI revealed a statistical superiority of CABG to PCI in terms of the long-term mortality. Furthermore, CABG showed more advantages over PCI with respect to the incidence of myocardial infarction [HR=0.51, 95% CI (0.39, 0.67), P<0.001; heterogeneity, P=0.707, I²=0%] and repeat revascularization [HR=0.40, 95% CI (0.27, 0.59), P<0.001; heterogeneity, P<0.001, I²=80.1%]. It was concluded that CABG appears to be more advantageous than PCI for the treatment of ischemic heart failure in the given clinical setting.

BRAF^V600E mutation has been thought to be a valuable molecular marker that may predict a worse prognosis for papillary thyroid cancer (PTC). But whether BRAF^V600E mutation is associated with lymph node metastasis (LNM) remains controversial. Different surgical strategies may bring a bias in demonsstrating the association between them. In order to delineate a risk stratification to guide a tailored initial approach to tumors that express BRAF^V600E mutation, we performed this meta-analysis by using the articles in which total or near-total thyroidectomy plus bilateral central lymph node dissection was routinely performed to avoid the bias from the surgical strategy. We searched the Medline, Embase and CNKI database for eligible studies from January 2003 to May 2018. Meta-analysis was performed using the STATA 12.0 software. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated under fixed-effects or randomeffects models. Fifteen clinical studies were included with a total of 4909 PTC patients. Our meta-analysis results reported that BRAFV600E mutation was associated with LNM (OR=1.34; 95% CI: 1.09–1.65; P=0.005), as well as central LNM (OR=1.59; 95% CI: 1.35–1.88; P<0.00001). Moreover, in patients with papillary thyroid microcarcinoma, we also confirmed the predictive value of BRAF^V600E mutation for LNM (OR=3.49; 95% CI: 2.02–6.02; P<0.00001). This meta-analysis demonstrates that BRAF^V600E mutation is closely related to LNM in PTC patients. The results suggest that BRAF^V600E mutation can be considered as a risk factor for LNM in PTC. Moreover, combining BRAF^V600E mutation with other risk factors to determine the initial surgical treatment may bring benefits for PTC patients.

The aim of the present study was to evaluate the prognostic potential of postoperative scores of inflammation indexes and the dynamic changes of scores before and after tumor resection in colorectal cancer patients. The study included 516 colorectal cancer patients with primary colorectal tumor resection. Cox regression was applied to estimate the associations of postoperative and dynamic changes of inflammation indexes with progression-free survival and overall survival. As results, we found that higher postoperative neutrophil to lymphocyte ratio (NLR), neutrophil and monocyte to lymphocyte ratio (NMLR), platelet to lymphocyte ratio (PLR) and systemic immune inflammation index (SII) were associated with shorter progression-free survival. The increased NLR, NMLR, PLR, SII and C-reaction protein (CRP) to albumin (ALB) ratio (CAR) were associated with poor progression-free survival, with HRs (95% CIs) of 1.92 (1.27–2.90), 1.46 (1.11–2.09), 2.10 (1.34–3.30), 1.81 (1.22–2.70) and 1.65 (1.03–2.67), respectively. Postoperative NMLR, SII, CAR, and their dynamic changes were also significantly correlated with overall survival, with the HRs (95% CIs) of 2.63 (1.30–3.97), 2.44 (1.43–4.17), 2.74 (1.31–5.74), 2.08 (1.21–3.60), 1.97 (1.12–3.45) and 2.55 (1.21–5.38) respectively. In conclusion, postoperative inflammation indexes and their dynamic changes, particularly for NMLR, SII and CAR are promising prognostic predictors of CRC patients.

Osteosarcoma is the most common primary malignant bone tumor in childhood, and it maintains a high level of recurrence. Matrix metalloproteinase-1 (MMP-1) was found to contribute to cancer progression. The present study was to investigate the in vitro effects of MMP-1 over-expression on the proliferation, invasion, metastasis and stem-like properties of osteosarcoma MG-63 cells. The MG-63 cells were cultured and had a full length MMP-1 cDNA inserted by the lentiviral vector (MG-63^MMP-1+). MG-63 negative control and MG-63 blank control groups were established as well. MMP-1 expression was detected in MG-63^MMP-1+, MG-63 negative control and MG-63 blank control cells using qPCR, Western blotting and immunofluorescence after 24 h of culture. The cell proliferation assay was performed with a camera attached to a bioreactor, which was programmed to photograph five regions of each well every 10 min over a period of 48 h. The cell invasion assay was conducted with Matrigel to assess the invasive potential of MG-63 cells over 24 h, the qPCR analysis to measure stem cell markers, including Oct4, Sox-2, Nanog, and Pax-7, and Western blot analysis to detect invasive and metastatic potential markers TIMP-1, VEGF and BMP2/4, after 24 h of culture. Immunofluorescence was used to investigate the presence of the stem cell marker Pax-7 after 24-h culture. The results showed that over-expression of MMP-1 after transfection could significantly increase tumor cell proliferation and invasion (P<0.05, MG-63^MMP-1+versus controls). Pax-7 was highly expressed in MG-63^MMP-1+ cells, with no significant changes of Oct-4, Sox-2, and Nanog observed (P<0.05). MG-63^MMP-1+ cells showed higher expression of VEGF and BMP 2/4 proteins and lower expression of TIMP-1 protein than controls (P<0.05). It was concluded that MMP-1 over-expression in MG-63 cells contributed to the proliferation, invasion, metastasis and stem-like properties of osteosarcoma cells. Future studies should focus on in vivo effects of MMP-1 over-expression and the application of MMP-1 and Pax-7 inhibition in vivo to osteosarcoma therapies.

The main purpose of this study was to compare the clinical outcomes of patients undergoing a single bundle anterior cruciate ligament reconstruction (ACL-R) of using quadrupled hamstring (4HT) autografts and two-strand tibialis anterior (2TA) allografts, and to find out the rate of graft failure and possible causes. We hypothesized that there would be no difference in the clinical outcome, and graft failure would be associated with the use of small sized allograft in young active males with high demand of sports activities. We retrospectively evaluated 222 patients (male, n=167, female, n=55) undergoing ACL-R between January 2010 and July 2014. Of 222 patients, 115 were included in the 4HT autograft group and 107 patients in the 2TA allograft group. Inclusion criteria were primary unilateral ACL-R with a minor MCL (<grade II) injury with or without meniscus tear and had at least 2.5 years of follow-up. Subjective evaluation was performed using Tegner-Lysholm score, modified Cincinnati knee score, and IKDC knee form. Anteroposterior laxity was assessed using ADT and Lachman test whereas rotational laxity was assessed using pivot shift test. Similarly, functional assessment was performed using range of motion (ROM), Daniel’s one-leg hop test, and overall IKDC score. Clinical outcomes were satisfactory and comparable in both groups with no statistically significant difference in all the respective parameters. No statistically significant difference was observed in graft re-rupture rate. However, most graft failures occurred in young active males with high demand of sports activities, graft size smaller than 8 mm, and use of allograft. An autograft with at least 8 mm diameter should be considered in a young active male with high demand of sports activities to avoid graft failure.

The feasibility of three-dimensional (3D) printing technology combined with minimally invasive surgery in the treatment of pubic rami fractures was explored. From August 2015 to October 2017, a series of 30 patients who underwent surgical stabilization of their anterior pelvic ring (all utilizing the 3D printing technology) by one surgeon at a single hospital were studied. The minimally invasive incisions were made through anterior inferior cilia spine and pubic nodule. Data collected included the operative duration, the blood loss, the damage of the important tissue, the biographic union and the recovery of the function after the operation. Measurements on inlet and outlet pelvic cardiograph were made immediately post-operation and at all follow-up clinic visits. The scores of reduction and function were measured during follow-up. Results showed that the wounds of 30 patients were healed in the first stage, and there was no injury of important structures such as blood vessels and nerves. According to the Matta criteria, excellent effectiveness was obtained in 22 cases and good in 8 cases. According to the functional evaluation criteria of Majeed, excellent effectiveness was obtained in 21 cases and good in 9 cases. It was suggested that the 3D printing technology assisted by minimally invasive surgery can better evaluate the pelvic fracture before operation, which was helpful in plate modeling, and can shorten surgery duration and reduce intraoperative blood loss and complications. The positioning accuracy was improved, and better surgical result was finally achieved.

This study was designed to explore the safety and feasibility of robotic-assisted laparoscopic nephrectomy with vein thrombectomy (RAL-NVT) for the treatment of renal cell carcinoma (RCC) with venous tumor thrombus (VTT). Clinical data of 6 patients treated with RAL-NVT between July 2016 and November 2017 in our hospital were retrospectively collected and analyzed. There were 5 males and 1 female with their age ranging from 48 years to 68 years. Five renal tumors were right-sided and one left-sided. Three cases fell in level 0 VTT, one in level I and two in level II. Preoperative imaging revealed lymph node involvement in 1 case and distant metastasis in 2 cases. For RCC with level 0 VTT, the renal vein of the affected side was adequately and carefully dissected around the thrombus to the proximity of inferior vena cava (IVC) and was ligated with Hem-o-loks without cross-clamping the IVC. For level I and II VTT, the IVC was crossclamped cephalically and caudally around the tumor thrombus and all tributaries were sequentially blocked to ensure the safe retrieval of VTT. All operations were successfully completed without conversion to open operation. The mean operative time was 150 (115–230) min. Cross-clamping of the IVC happened in 3 cases, and the blocking time was 14, 19 and 20 min, respectively. The mean estimated blood loss during the operation was 400 (200–580) mL. The peritoneal drainage tube was removed 5 to 9 days after the operation, and all patients were postoperatively discharged at 6 to 11 days. Postoperative pathological analysis confirmed that the RCCs were comprised of 4 clear cell RCCs, 1 papillary cell RCC, and 1 medullary cell RCC; 2 cases were Fuhrman grade II, 3 cases grade III, and 1 case undefined grade. No recurrence or progression was observed during the follow-up of 4.2 (3–6) months. We concluded that RAL-NVT is highly challenging but safe and feasible for the treatment of RCC with VTT.

Periventricular white matter injury (PWMI) is very common in survivors of premature birth, and the final outcomes are a reduction in myelinated neurons leading to white matter hypomyelination. How and (or) why the oligodendrocyte lineage develops abnormally and myelination is reduced is a hot topic in the field. This study focuses on the effect of intrauterine inflammation on the proliferation of oligodendrocyte lineage cells and the underlying mechanisms. Lipopolysaccharide (LPS) (300 μg/kg) was intraperitoneally injected into pregnant Sprague-Dawley rats at embryonic days 19 and 20 to establish a rat model of intrauterine infection-induced white matter injury. Corpus callosum tissues were collected at postnatal day 14 (P14) to quantify the number of oligodendrocytes, the number and proliferation of oligodendrocyte precursor cells (OPCs), and the expression of myelin proteins (MBP and PLP). Furthermore, the expression of Wnt and Notch signaling-related proteins was analyzed. The results showed that the number of oligodendrocytes in the corpus callosum tissues of LPS-treated rats was reduced, and the expression levels of myelinating proteins were down-regulated. Further analysis showed that the Notch signaling pathway was down-regulated in the LPStreated group. These results indicate that intrauterine LPS may inhibit the proliferation of OPCs by down-regulating the Notch rather than the Wnt signaling pathway, leading to hypomyelination of white matter.

This study investigated the expression of lung surfactant proteins (SP-B and SP-C), and regulatory factors [forkhead box A2 (FOXA2) and nitrolyogenic FOXA2 (N-FOXA2)] in the fetal lung of rats with gestational diabetes mellitus (GDM) in order to study the mechanism of pulmonary dysplasia. The rat GDM model was established by using streptozotocin intraperitoneally in the first stage of pregnancy. There were 10 rats in the GDM group, and 10 healthy rats in normal control group without any treatment. Fetal lungs of two groups were taken at day 21 of pregnancy. Blood glucose levels of maternal rats and fetal rats were measured by Roche blood glucose meter. The histological changes in the fetal lung were observed under the light microscope in both groups. The SP-B, SP-C and FOXA2 were determined in the fetal lung of two groups immunohistochemically. The expression levels of SP-B, SP-C, total FOXA2, FOXA2 in nucleus (n-FOXA2), N-FOXA2 proteins were detected by Western blotting, and the relative expression levels of SP-B, SP-C, FOXA2 mRNA in the fetal lung of two groups were detected by RTPCR. The results showed that blood glucose levels of maternal rats and fetal rats in GDM group were higher than those in control group. The light microscope revealed fetal lung development retardation in GDM group. The expression of SP-B and SP-C in GDM group was significantly reduced as compared with control group (P<0.05). As compared with control group, the n-FOXA2 expression was significantly decreased in the fetal lung tissue, and N-FOXA2 was significantly increased in control group (P<0.05), but there was no significant changes in the total FOXA2 (P>0.05). It was concluded that GDM can cause fetal lung development and maturation disorders, and FOXA2 in fetal lung tissue decreases while nitrocellulose FOXA2 increases.

The polycystic ovary syndrome (PCOS) model was established in rats and correlation between the expression of macrophage migration inhibitory factor (MIF) and cytokinesis with the MAPK signalling pathway in the rat ovary was measured. The PCOS model in rats was established by dehydroepiandrosterone (DHEA). Thirty sexually immature female Sprague-Dawley rats were randomly and equally assigned to three groups: control group, PCOS group, and PCOS with high-fat diet (HFD) group. Serum hormones were assayed by radioimmunoassay (RIA). The ovaries were immunohistochemically stained with MIF, and the expression of MIF, p-JNK and p-p38 was detected by Western blotting in ovaries. The serum testosterone level, LH concentration, LH/FSH ratio, fasting insulin level and HOMA IR index in the PCOS group (6.077±0.478, 13.809±1.701, 1.820±0.404, 10.83±1.123 and 1.8692±0.1096) and PCOS with HFD group (6.075±0.439, 14.075±1.927, 1.779±0.277, 10.20±1.377 and 1.7736±0.6851) were significantly higher than those in the control group (4.949±0.337, 2.458±0.509, 1.239±0.038, 9.53±0.548 and 1.5329±0.7363), but there was no significant difference between the PCOS group and PCOS with HFD group. The expression levels of MIF, p-JNK, and p-p38 in the PCOS group (0.4048±0.013, 0.6233±0.093 and 0.7987±0.061) and PCOS with HFD group (0.1929±0.012, 0.3346±0.103 and 0.3468±0.031) were obviously higher than those in control group (0.2492±0.013, 0.3271±0.093 and 0.3393±0.061), but no significant difference was observed between PCOS group and PCOS with HFD group. It was suggested that MIF may participate in the pathogenesis of PCOS through the MAPK signalling pathway in PCOS rats induced by DHEA.

As a novel biomarker, there is inconsistent evidence regarding the association between anti-Müllerian hormone (AMH) and live birth rate in freezing-all embryo transfer cycles. We aim to assess the prognostic effect of baseline AMH on clinical outcomes, especially live birth rate in freezing-all embryo transfer cycles. A total of 828 non-polycystic ovary patients that underwent their first frozen-thawed embryo transfers in our center between January 2010 and January 2015 were recruited in this retrospective analysis. Patients were stratified into three groups based on their baseline AMH concentration: low AMH group (<1.4 ng/mL), middle AMH group (1.4–5.8 ng/mL) and high AMH group (>5.8 ng/mL). The results showed that low AMH level was associated with adverse clinical outcomes. The differences in implantation rate (21.9% vs. 43.2% vs. 58.8%, P<0.001), clinical pregnancy rate (32.0% vs. 55.2% vs. 65.7%, P<0.001), live birth delivery rate (21.8% vs. 43.6% vs. 52.7%, P<0.001) and miscarriage rate (31.8% vs. 17.5% vs. 15.4%, P=0.014) among the three groups were statistically significant. After adjusting confounders (i.e. age, baseline FSH level, AFC, endometrium thickness, endometrium preparation protocols, number of embryos transferred, etiologies of infertility), differences in live birth rate, clinical pregnancy rate and implantation rate between groups remained significant. The further age subgroup analysis demonstrated that low AMH concentration was significantly associated with poor outcomes both in young and advanced patients. The area under the curve for serum AMH, age, AFC and FSH were 0.635, 0.634, 0.615 and 0.543 respectively, for predicting live birth. In conclusion, baseline AMH was an independent prognostic factor of live birth rate of freezing-all embryo transfers, but its predictive value on live birth rate was of limited clinical value.

Wnt1-inducible signaling pathway protein-1 (WISP1), a member of the CCN family, is increasingly being recognized as a potential target for obesity and type 2 diabetes mellitus. Recent studies have shown that WISP1 can regulate low-grade inflammation in obese mice, and circulating WISP1 levels are associated with obesity and type 2 diabetes mellitus in adults. Herein, we measured serum WISP1 levels in obese youth and explored its relationships with pro-inflammatory cytokine interleukin 18 (IL-18) and other metabolic indexes. Totally, 44 normal-weight and 44 obese children and adolescents were enrolled. Physical and laboratory data were recorded, and then serum levels of WISP1 and IL-18 were determined by enzyme-linked immunosorbent assays. Results showed that serum levels of WISP1 were significantly higher in obese children and adolescents than in normal-weight healthy controls (1735.44±15.29 vs. 1364.08±18.69 pg/mL). WISP1 levels were significantly positively correlated with body mass index (BMI) and BMI z-score (r=0.392, P=0.008; r=0.474, P=0.001, respectively) in obese group; circulating IL-18 was increased in obese individuals (1229.06±29.42 vs. 295.87±13.30 pg/mL). Circulating WISP1 levels were significantly correlated with IL-18 (r=0.542, P<0.001), adiponectin (r=0.585, P<0.001) and leptin (r=0.592, P<0.001). The multivariate stepwise regression analysis showed that higher IL-18 levels represented the main determinant of increased WISP1 levels after adjusting for BMI, waist circumference, fasting insulin, homeostatic model assessment of insulin resistance (HOMA-IR) and HbA1c in obese individuals (β=0.542, P=0.000). WISP1 can be involved in glucose/lipid metabolism in obese youth, which may be modulated by IL-18. Increased WISP1 levels may be a risk factor of obesity and insulin resistance, and WISP1 has a potential therapeutic effect on insulin resistance in obese children and adolescents.

To investigate the incidence, risk factors, clinical manifestations and prognosis of intracranial hemorrhage (ICH) in children with hemophilia A in a center of China, we conducted a retrospective analysis of 126 children with hemophilia A at our hospital in recent 4 years. Thirty-six children with hemophilia A (including 19 severe cases, and 17 moderate cases complicated with joint diseases) received low dose factor VIII (FVIII) prophylaxis, and none of them had ICH. However, 13 cases of hemophilia A not given prophylaxis were complicated with ICH (12 severe cases, and 1 moderate case) and demonstrated an incidence of 10.3% (13/126) in all patients, and 28.6% (12/42) in severe cases. Of the 13 cases, 9 severe ICH cases had a definite history of head injury, accounting for 69.2%. Headache was common in children >3 years, but somnolence, irritability, gaze or convulsions in children <3 years. The most common findings of cranial CT scan included intracranial hematoma (9/13), and less commonly observed were subependymal hemorrhage and intraventricular hemorrhage. After administration of FVIII, all patients survived. Hematoma of 6 cases was observed during CT reexamination after 1–3 months. During the follow-up period, only one case had slight activity limitation on one side of the limb, but steadily recovered. Besides the decreased concentration of FVIII, trauma is the most common risk factor of ICH in children with hemophilia A. The active treatment can improve the prognosis of ICH in children with hemophilia A.

The efficacy and applied value of endoscopic hematoma evacuation vs. external ventricular drainage (EVD) in the treatment of severe ventricular hemorrhage (IVH) were explored and compared. From Jan. 2015 to Dec. 2016, the clinical data of 42 cases of IVH were retrospectively analyzed, including 18 patients undergoing endoscopic hematoma evacuation (group A), and 24 patients receiving EVD (group B). The hematoma clearance rate was calculated by 3D Slicer software, and complications and outcomes were compared between the two groups. There were no significant differences in age, sex and Graeb score between groups A and B (P>0.05). The hematoma clearance rate was 70.81%±27.64% in group A and 48.72%±36.58% in group B with a statistically significant difference (P<0.05). The operative time in groups A and B was 72.45±25.26 min and 28.54±15.27 min, respectively (P<0.05). The Glasgow Coma Scale (GCS) score increased from 9.28±2.72 at baseline to 11.83±2.91 at 1 week postoperatively in group A, and from 8.25±2.62 at baseline to 10.79±4.12 at 1 week postoperatively in group B (P<0.05). The length of hospital stay was 12.67±5.97 days in group A and 17.33±8.91 days in group B with a statistically significant difference (P<0.05). The GOS scores at 6 months after surgery were 3.83±1.12 in group A, and 2.75±1.23 in group B (P<0.05). These results suggested that endoscopic hematoma evacuation has an advantage of a higher hematoma clearance rate, fewer complications and better outcomes in the treatment of severe IVH, indicating it is a safe, effective and promising approach for severe IVH.

This study is aimed to classify degrees of diaphragma sellae (DS) descent into sella turcica according to the surgical field block caused by the descent and to construct predictive imaging criteria for the degree of descent, and in addition, to determine whether there is any correlation between the degree of DS descent and the operative outcome (in the form of cerebrospinal fluid leak and/or presence of residual tumor). Totally, 72 patients were enrolled in our study. Their clinical and radiological data as well as the high definition videos of operations were retrospectively reviewed. The degree of DS descent during the operation was classified into five degrees according to surgical field block caused by the descent. We investigated the correlation between these five degrees and the clinical findings, radiological findings as well as the surgical outcomes. We found that the most important determining factors of DS descent degree were the volume and the height of the tumor portion above diaphragma opening. On the other hand, the total tumor volume, the maximum tumor height and the morphological pattern according to Wilson’s system (modified from Hardy) had no statistically significant correlation with DS degree of descent. Presence of residual tumor on postoperative magnetic resonance images was significantly correlated with Wilson’s classification and with supradiaphragmatic tumor height. On the other hand, cerebrospinal fluid leak showed no statistically significant difference between variable degrees of DS descent. Volumetric data of the tumor portion above the diaphragma opening are more important than morphological data for prediction of surgical field block caused by descended DS. While DS prolapse significantly increases the difficulty of the operative procedure, residual tumor presence is mainly dependent on morphological classification, especially cavernous sinus invasion.

Keloid may induce severe impairment of life quality for the patients, although keloid is a cutaneous benign tumor. Collagen triple helix repeat containing protein 1 (Cthrc1) was identified as a novel gene that was originally found in adventitial fibroblasts after arterial injury. To address the role of Cthrc1 in keloid, the expression level of Cthrc1 was assessed in normal skin and keloid tissue, as well as in normal fibroblasts (NFs) and keloid fibroblasts (KFs) by using quantitative PCR, Western blotting and immunohistochemical analysis. The results showed that Cthrc1 was increased in keloid tissue and KFs as compared with normal skin and NFs. Meanwhile, CCK8 and Transwell assays found the cellular proliferation and migration of KFs were increased as compared with NFs. Further, to verify the function of Cthrc1 in NFs and KFs, we increased Cthrc1 expression by transfecting lentivirus (LV) vectors LV-Cthrc1. The cellular proliferation and migration, collagen synthesis and the influence on TGF-β and YAP signaling were tested. The cellular proliferation and migration were increased in NFs-Cthrc1 as compared with NFs-control. Meanwhile, YAP expression and nuclear-location was increased in NFs-Cthrc1. On the contrary, when Cthrc1 was overexpressed in KFs, the cellular migration was suppressed and YAP expression was reduced and transferred to cytoplasm in KFs-Cthrc1 as compared with KFs-control. But the expression level of collagen I was decreased and pSmad2/3 nucleus transfer was suppressed in both NFs-Cthrc1 and KFs-Cthrc1 by using Western blotting and immunofluorescence. Increased Cthrc1 activated NFs by promoting YAP nucleus translocation, whereas suppressed KFs by inhibiting YAP nucleus translocation. Enhanced Cthrc1 decreased collagen I in both NFs and KFs by inhibiting TGF-β/Smad pathway. In conclusion, Cthrc1 may play a role in the pathogenesis of keloid by inhibiting collagen synthesis and fibroblasts migration via suppressing TGF-β/Smad pathway and YAP nucleus translocation.

Paired associative stimulation (PAS), combining transcranial magnetic stimulation (TMS) with electrical peripheral nerve stimulation (PNS) in pairs with an optimal interstimulus interval (ISI) in between, has been shown to influence the excitability of the motor cortex (MC) in humans. However, the underlying mechanisms remain unclear. This study was designed to explore an optimal protocol of PAS, which can modulate the excitability of MC in rats, and to investigate the underlying mechanisms. The resting motor thresholds (RMTs) of TMS-elicited motor evoked potentials (MEPs) recorded from the gastrocnemius muscle and the latency of P1 component of somatosensory evoked potentials (SEPs) induced by electrical tibial nerve stimulation were determined in male Sprague-Dawley rats (n=10). Sixty rats were then randomly divided into 3 groups: a PAS group (further divided into 10 subgroups at various ISIs calculated by using the latency of P1, n=5, respectively), a TMS (only) group (n=5) and a PNS (only) group (n=5). Ninety repetitions of PAS, TMS and PNS were administered to the rats in the 3 groups, respectively, at the frequency of 0.05 Hz and the intensity of TMS at 120% RMT and that of PNS at 6 mA. RMTs and motor evoked potentials’ amplitude (MEPamp) were recorded before and immediately after the interventions. It was found that the MEPamp significantly decreased after PAS at ISI of 5 ms (P<0.05), while the MEPamp significantly increased after PAS at ISI of 15 ms, as compared with those before the intervention (P<0.05). However, the RMT did not change significantly after PAS at ISI of 5 ms or 15 ms (P>0.05). PAS at other ISIs as well as the sole use of TMS and PNS induced no remarkable changes in MEPamp and RMT. In conclusion, PAS can influence motor cortex excitability in rats. Neither TMS alone nor PNS alone shows significant effect.

Ultrasound-guided spinal anesthesia is an attracting and advanced technique. We developed a new paramedian transverse approach for real-time ultrasound-guided spinal anesthesia. Using this approach, the block can be performed with the dominant hand whether in right or left lateral decubitus or sitting position. Our preliminary experience in 42 orthopedic and obstetric patients showed it could achieve high first pass success rate with acceptable procedure time. The effectiveness and safety of this approach need further investigation by comparing it with blind technique and other ultrasound-guided techniques with well-designed randomized controlled trials.

This study aims to evaluate the long-term stability of vertical control in hyperdivergent patients treated with temporary anchorage devices. The sample included 20 hyperdivergent patients without anterior open bite. The temporary anchorage devices were used to intrude the upper incisor and molars for vertical control. Lateral cephalograms were established prior to treatment, immediately after treatment, and during retention. The upper molars and incisors were intruded by 1.33 mm and 1.41 mm after treatment (P<0.05). U6-PP increased by 0.11 mm and 0.23 mm during the first and second stages of retention (P>0.05). U1-PP was found to possess a significant extrusion of 1.2 mm during the first stage (P<0.05), which increased by 0.68 mm during the second stage (P>0.05). The mandibular plane angle (MP-SN) decreased by 2.58 degrees following treatment, and underwent a relapse of 0.51 degree and 0.42 degree during the first and second stages of retention respectively (P>0.05). No significant soft tissue changes occurred, with the exception of increased upper lip length during the second stage (P<0.05). Maxillary anterior and posterior intrusions, counter clockwise rotation of the mandibular plane, and improved profiles can be successfully achieved following treatment with vertical control. During the first stage of retention (less than three years), intruded molars and incisors both exhibited some extrusion, and molars had better long-term stability than incisors. During the second stage of retention (three to six years), the therapeutic effects appeared stable, with the exception of some increase in upper lip length. Rotated mandibular plane remained stable during the entire retention period.

In order to prospectively assess various parameters of diffusion weighted imaging (DWI) in differential diagnosis of benign and malignant solitary pulmonary nodules (SPNs), 58 patients (40 men and 18 women, and mean age of 48.1±10.4 years old) with SPNs undergoing conventional MR, DWI using b=500 s/mm² on a 1.5T MR scanner, were studied. Various DWI parameters [apparent diffusion coefficient (ADC), lesion-tospinal cord signal intensity ratio (LSR), signal intensity (SI) score] were calculated and compared between malignant and benign SPNs groups. A receiver operating characteristic (ROC) curve analysis was employed to compare the diagnostic capabilities of all the parameters for discrimination between benign and malignant SPNs. The results showed that there were 42 malignant and 16 benign SPNs. The ADC was significantly lower in malignant SPNs (1.40±0.44)×10⁻³ mm²/s than in benign SPNs (1.81±0.58)×10⁻³ mm²/s. The LSR and SI scores were significantly increased in malignant SPNs (0.90±0.37 and 2.8±1.2) as compared with those in benign SPNs (0.68±0.39 and 2.2±1.2). The area under the ROC curves (AUC) of all parameters was not significantly different between malignant SPNs and benign SPNs. It was suggested that as three reported parameters for DWI, ADC, LSR and SI scores are all feasible for discrimination of malignant and benign SPNs. The three parameters have equal diagnostic performance.

Klippel-Trénaunay syndrome (KTS) is a rare angio-osteo-hypertrophic syndrome characterized by vascular malformations, soft tissue and/or bone hypertrophy, and varicose veins. For the purpose of describing the imaging findings and elucidating the role of medical imaging in the diagnosis and assessment of patient with KTS, we have reviewed the imaging data of 14 KTS patients. The imaging features on different imaging modalities were analyzed. Unilateral lower limb involvement was evident in 71% of cases (n=10) and bilateral but asymmetric lower limb involvement in the remaining 29% of cases (n=4). The most commonly depicted imaging features were varicosities in 93% (n=13), muscle hypertrophy in 79% (n=11) and venous anomalies in 64% (n=9). Other less common imaging findings included lymphedema in 29% (n=4), arterial malformations 29% (n=4), soft tissue hemangiomas 21% (n=3), pelvic and thigh phleboliths 21% (n=3), venous aneurysms 21% (n=3), bone abnormalities 14% (n=2) and lymphadenopathy 14% (n=2). A severe unilateral lower limb deformity resulting in contractures and muscle atrophy of the whole limb was depicted in 1 case. The pathognomonic marginal vein of Servelle was identified in 2 cases. AV shunt was highly suspected in 4 cases and was confirmed by DSA in 1 case, making Klippel-Trénaunay-Weber syndrome a more apt diagnosis. Associated ipsilateral duplicated renal artery was found in 1 case. We have concluded that medical imaging is the cornerstone in the diagnosis and assessment of severity and complications, follow-up and differentiation of KTS from other similar conditions. Different imaging modalities play complementary roles in the evaluation of KTS patients.

Oculocutaneous albinism (OCA) is an autosomal recessive pigmentation abnormality, characterized by variable hair, skin, and ocular hypopigmentation. OCA1 is the most frequent subtype of OCA, caused by mutations in the tyrosinase gene (TYR). In this study, we investigated the genetic mutation of a Chinese family with a female OCA patient who came for genetic counseling before pregnancy. Complete physical examination was performed, and DNA from blood samples was collected from the family members. Mutations of TYR, OCA2, and SLC45A2 genes were examined in the proband, and verified in her parents by Sanger sequencing. Large deletion or duplication of TYR and OCA2 genes was detected by multiplex ligation-dependent probe amplification (MLPA). A homozygous TYR c.307T>C (p.Cys103Arg) missense mutation was identified in the proband, and both parents were heterozygous carriers. No large deletion or duplication was found in the proband. This mutation was absent in 1000G, ExAC, or HGMD database, and multiple lines of in silico tools supported a deleterious effect. These results suggest that TYR c.307T>C mutation might be responsible for OCA1, and our study further expands the mutation spectrum of OCA1 in the Chinese population.

Kleptomania is a kind of uncontrollable impulse and behavior of stealing, and it is also a serious disease. At present, studies on pathological theft at home and abroad are not sufficient, and the understanding of the symptoms, etiology and treatment of this disease is very insufficient. This article focuses on the latest development of symptoms, etiology and treatment of kleptomania, providing a reference for people to further identify, treat and study the disease.