Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosis.

Craniofacial microsomia (CFM, OMIM%164 210) is one of the most common congenital facial abnormalities worldwide, but it's genetic risk factors and environmental threats are poorly investigated, as well as their interaction, making the diagnosis and prenatal screening of CFM impossible. We perform a comprehensive association study on the largest CFM cohort of 6074 samples. We identify 15 significant (P < 5 × 10-8) associated genomic loci (including eight previously reported) and decipher 107 candidates based on multi-omics data. Gene Ontology term enrichment found that these candidates are mainly enriched in neural crest cell (NCC) development and hypoxic environment. Single-cell RNA-seq data of mouse embryo demonstrate that nine of them show dramatic expression change during early cranial NCC development whose dysplasia is involved in pathogeny of CFM. Furthermore, we construct a well-performed CFM risk-predicting model based on polygenic risk score (PRS) method and estimate seven environmental risk factors that interacting with PRS. Single-nucleotide polymorphism-based PRS is significantly associated with CFM [P = 7.22 × 10-58, odds ratio = 3.15, 95% confidence interval (CI) 2.74-3.63], and the top fifth percentile has a 6.8-fold CFM risk comparing with the 10th percentile. Father's smoking increases CFM risk as evidenced by interaction parameter of -0.324 (95% CI -0.578 to -0.070, P = 0.011) with PRS. In conclusion, the newly identified risk loci will significantly improve our understandings of genetics contribution to CFM. The risk prediction model is promising for CFM prediction, and father's smoking is a key environmental risk factor for CFM through interacting with genetic factors.

Early Efficacy Assessment of Arthroscopic Lower Trapezius Transfer With Tendon Autograft in the Management of Massive Irreparable Posterosuperior Rotator Cuff Tears.

Objectives: To explore the indications and surgical techniques for arthroscopic lower trapezius transfer (LTT) with tendon autograft in managing massive irreparable posterosuperior rotator cuff tears (PSRCTs); to validate the feasibility, safety, and efficacy of this technique. Methods: This study retrospectively enrolled 23 patients with massive irreparable PSRCTs, admitted to and followed up by the Taizhou Hospital of Zhejiang province between July 2020 and April 2021, and treated with ipsilateral LTT and ipsilateral hamstring tendon autograft. The control group consisted of 23 patients with massive RCTs receiving conventional repair procedures within the same frame. Follow-up data at the preoperative visit, and postoperative month 3 were collected to assess the active range of motion, Constant-Murley Score (CMS),American Shoulder and Elbow Surgeons Standardized Shoulder Assessment Form (ASES), University of California, Los Angeles (UCLA)shoulder score, visual analog scale (VAS)and the post-operative MRI results, all of which could provide a comprehensive postoperative early efficacy assessment. Results: Three months follow-up visits were completed for all patients, revealing improvements in all aspects compared to the preoperative state, with no complications, such as postoperative infection of surgical sites and nerve injuries of infection and nerve injury. The distribution of active shoulder range of motion of patients and function scores with two types of operation was as follow: angles of flexion and lifting (130.00° ± 31.55° vs. 90.78° ± 19.85°), abduction (123.26° ± 30.47°vs. 85.87° ± 18.74°), external rotation at side (101.74° ± 14.74° vs. 91.74° ± 11.92°), external rotation at 90° abduction (41.52° ± 21.97° vs. 24.57° ±12.60°), VAS (0.74± 0.81 vs. 1.87 ±0.87), CMS(56.3 ± 13.01 vs. 48.30 ± 8.38), UCLA shoulder score (24.04 ± 2.88 vs.20.96 ± 3.47), ASES (72.91 ± 9.99 vs.60.74 ± 8.84). Significantly better improvements were found in the study group on month 3.19 of 23 patients in the study group and 17 of 23 patients in the control group underwent MRI on the 3 months follow up. Retear was found in only one patient who had grade 4 subscapularis tendon injury, However, revision was not performed due to postoperative pain relief and functional improvement. Conclusion: Compared to conventional repair procedures, in the early postoperative period, LTT with tendon autograft could achieve better pain relief, more rapid motor functional recovery, and higher functional scores for massive irreparable PSRCTs.

Modelling a Compensation Standard for a Regional Forest Ecosystem: A Case Study in Yanqing District, Beijing, China.

The assessment of forest ecosystem services can quantify the impact of these services on human life and is the main basis for formulating a standard of compensation for these services. Moreover, the calculation of the indirect value of forest ecosystem services should not be ignored, as has been the case in some previous publications. A low compensation standard and the lack of a dynamic coordination mechanism are the main problems existing in compensation implementation. Using comparison and analysis, this paper employed accounting for both the costs and benefits of various alternatives. The analytic hierarchy process (AHP) method and the Pearl growth-curve method were used to adjust the results. This research analyzed the contribution of each service value from the aspects of forest produce services, ecology services, and society services. We also conducted separate accounting for cost and benefit, made a comparison of accounting and evaluation methods, and estimated the implementation period of the compensation standard. The main conclusions of this research include the fact that any compensation standard should be determined from the points of view of both benefit and cost in a region. The results presented here allow the range between the benefit and cost compensation to be laid out more reasonably. The practical implications of this research include the proposal that regional decision-makers should consider a dynamic compensation method to meet with the local economic level by using diversified ways to raise the compensation standard, and that compensation channels should offer a mixed mode involving both the market and government.