Accurate timing of myelination is crucial for the proper functioning of the central nervous system. Here, we identified a de novo heterozygous mutation in TMEM63A (c.1894G>A; p. Ala632Thr) in a 7-year-old boy exhibiting hypomyelination. A Ca²⁺ influx assay suggested that this is a loss-of-function mutation. To explore how TMEM63A deficiency causes hypomyelination, we generated Tmem63a knockout mice. Genetic deletion of TMEM63A resulted in hypomyelination at postnatal day 14 (P14) arising from impaired differentiation of oligodendrocyte precursor cells (OPCs). Notably, the myelin dysplasia was transient, returning to normal levels by P28. Primary cultures of Tmem63a^-/- OPCs presented delayed differentiation. Lentivirus-based expression of TMEM63A but not TMEM63A_A632T rescued the differentiation of Tmem63a^-/- OPCs in vitro and myelination in Tmem63a^-/- mice. These data thus support the conclusion that the mutation in TMEM63A is the pathogenesis of the hypomyelination in the patient. Our study further demonstrated that TMEM63A-mediated Ca²⁺ influx plays critical roles in the early development of myelin and oligodendrocyte differentiation.
Animals ; Cell Differentiation/physiology* ; Oligodendroglia/metabolism* ; Mice, Knockout ; Mice ; Male ; Myelin Sheath/metabolism* ; Humans ; Child ; Cells, Cultured ; Oligodendrocyte Precursor Cells/metabolism*

Recent studies have shown that the physiological homeostasis of oral mucosal cells is regulated by the circadian clock.Dis-ruption or dysfunction of the circadian clock is closely associated with the development of oral squamous cell carcinoma(OSCC).Research based on the circadian clock offers a novel perspective on the pathogenesis and therapeutic strategies for OSCC.However,there is current-ly limited research on this topic,and people generally have insufficient understanding and recognition of the circadian clock.Given the complexity and challenges of circadian clock which is the fourth dimension of medical research,we organize relevant experts based on summarizing the current research results of circadian clock in the pathogenesis and precision diagnosis and treatment of OSCC,combining the scientific principles of the circadian clock's role and their long-term research experience,then summarizes and recommends the con-sensus opinions for the research of circadian clock in the pathogenesis mechanism and precision diagnosis and treatment of human OSCC,with the hope of providing guidance for the basic research and clinical application of circadian clock or circadian rhythm in the pathogene-sis mechanism and precision diagnosis and treatment of oral and maxillofacial squamous cell carcinoma.

Recent studies have shown that the physiological homeostasis of oral mucosal cells is regulated by the circadian clock.Dis-ruption or dysfunction of the circadian clock is closely associated with the development of oral squamous cell carcinoma(OSCC).Research based on the circadian clock offers a novel perspective on the pathogenesis and therapeutic strategies for OSCC.However,there is current-ly limited research on this topic,and people generally have insufficient understanding and recognition of the circadian clock.Given the complexity and challenges of circadian clock which is the fourth dimension of medical research,we organize relevant experts based on summarizing the current research results of circadian clock in the pathogenesis and precision diagnosis and treatment of OSCC,combining the scientific principles of the circadian clock's role and their long-term research experience,then summarizes and recommends the con-sensus opinions for the research of circadian clock in the pathogenesis mechanism and precision diagnosis and treatment of human OSCC,with the hope of providing guidance for the basic research and clinical application of circadian clock or circadian rhythm in the pathogene-sis mechanism and precision diagnosis and treatment of oral and maxillofacial squamous cell carcinoma.

Curettage is the main treatment method for oral maxillofacial cystic lesions,but simple curettage may easily damage surrounding structures such as adjacent teeth and nerves,leading to incomplete removal of the cyst and large jaw defects.The curettage assisted by endoscopy can provide a good surgical field for the surgeons,can clearly identify the important anatomical structure during the operation and can remove the cyst wall tissue as much as possible,thereby reducing the damage and reducing the recurrence rate of the lesion.This article combines the characteristics of maxillofacial surgery with clinical treatment experience,summarizes relevant literature from both domestic and international sources,and engages in discussions with experts in order to provide reference for the clinical treatment of jaw cystic lesions with endo-scope assisted curettage.

To investigate the safety and feasibility of gasless total endoscopic resection of deep lobe parotid gland tumors via a postauricular hairline plus temporal approach. The approach was designed as: a 4 to 5 cm main incision was designed at the postauricular hairline, and a 0.5 cm auxiliary incision was designed in the temporal hairline. The operating cavity was established with the assistance of a special retractor. "Anterograde" dissection of the facial nerve was performed throughout the procedure, along with partial or total gland removal of the tumor. All 16 operations were successfully completed without conversion to open surgery. During the operation, the trunk and branches of the facial nerve were completely preserved, the tumor was completely removed, and the incision healed. Six patients had mild facial paralysis after operation, and recovered completely after 3 to 6 months. There was no salivary fistula, Frey syndrome, infection, or other complications. The postoperative incision was concealed and the aesthetic effect was good. The postauricular hairline plus temporal approach gasless total endoscopic parotidectomy is safe and feasible. This technique can achieve the complete dissection of the total trunk to the branches of the facial nerve, and has good access to the tumors located in any part of the parotid gland region. On the basis of radical resection of the tumor, it achieves minimally invasive and aesthetic improvement.

Objective To report the treatment effects of open reduction and internal fixation with bone plate through a small posterior heel plus tarsal canal incision on closed calcaneal fractures.Methods A retrospective study was done of the 20 patients (25 feet) who had been treated at Ward One,Department of Orthopaedics,People's Hospital of Yunfu from February 2016 to February of 2019 for closed calcaneal frac-tures by open reduction and internal fixation with bone plate through a small posterior heel plus tarsal canal incision.They were 16 males and 4 females,aged from 16 to 60 years.According to the Sanders classification,there were 3 cases of type Ⅱ,15 cases of type Ⅲ and 2 cases of type Ⅳ.Their fractures were reduced by traction,extruding,prying and direct visualization through the tarsal canal window;the bone plates were inserted through a small incision at the back of the heel and fixated by screws.Postoperative observation was done to address fracture healing,and length,width,height,B(o)hler angle and Gissane angle of the affected calcaneus,as well as functional recovery of the ankle-hindfoot by the American Orthopaedic Foot and Ankle Society (AOFAS) evaluation.Results The operation time for a single foot ranged from 45 min to 70 min,averaging 64.5 min;the intraoperative fluoroscopy for a single foot ranged from 3 times to 6 times,averaging 4.5 times.Local skin necrosis of about 0.5 cm x 0.3 cm appeared in one foot after operation but responded to dressing change.No other wound complications occurred.Their follow up was carried out for 6 to 36 months (average,17.3 months).The fractures healed well with well-shaped bony callus and flat articular surface after 4 to 6 months.The length (80.5 mm ±4.2 mm),width (44.8 mm ±5.2 mm),height (44.4 mm ±3.0 mm),B(o)hler angle (25.0° ± 5.1 °) and Gissane angle (113.8 ° ± 8.6°) of the calcaneus at the last follow up were significantly improved than the preoperative values (79.4 mm ± 4.5 mm,50.5 mm ± 6.3 mm,40.0 mm ±4.4 mm,12.0°± 13.8° and 107.0°± 13.3°) (all P ＜ 0.05).By the AOFAS ankle-hindfoot scale,functional recovery of the foot was excellent in 20,good in 3 and fair in 2 cases,giving an excellent to good rate of 92％.Conclusion In the treatment of closed calcaneal fractures,open reduction and internal fixation with bone plate through a small posterior heel plus tarsal canal incision may lead to fine outeomes due to its advantages of small incision and fine fracture reduction.

Objective To analyze the clinical efficacy of lateral elbow approach combined with anterior median approach in the treatment of terrible triad of elbow.Methods Retrospectively analyzed 20 patients of terrible triad elbow who were admitted into our hospital from April 2012 to January 2015 and treated with lateral elbow approach combined with anterior median approach.The postoperative recovery of arthrosis,forearm rotation range,and range of motion were evaluated by Mayo score system.Results All patients wounds were with primary healing.There were 11 cases of excellent and 4 cases of good through Mayo score system,with the good rate of 75％.At the final follow-up,the range of motion was (122.06 ± 24.17) ° and the forearm rotation was (136.28 ± 8.9) °.Conclusion Lateral elbow approach combined with anterior median approach for the treatment of terrible triad of elbow has clear visual field,excellent surgical rate,without complications such as elbow instability and nerve damage.

In order to determine the effect of various hosts on feeding performance of Rhipicephalus (Boophilus) microplus, we used 3 mammalian species as hosts, cattle (Qinchuan), sheep (T an), and rabbits (Japanese white rabbit) for infest-ing ticks. Five hundreds of R. microplus larvae were exposed to each animal (3 animals/host species). Tick recoveries were 11.0%, 0.47%, and 5.5% from cattle, sheep, and rabbits, respectively. The averages of tick feeding periods were not significantly different on cattle, sheep, and rabbits, 28.8, 25.3, and 26.7 days, respectively. The average weights of individual engorged female from cattle, sheep, and rabbits were 312.5, 219.1, and 130.2 mg, respectively and those of egg mass weights each to 85.0, 96.6, and 17.8 mg. The highest egg hatching rate was in the ticks from cattle (96.0%), fol-lowed by those from rabbits (83.0%) and sheep (19.2%). These data suggest that rabbits could be as an alternative host to cultivate R. microplus for evaluating vaccines and chemical and biological medicines against the tick in the laboratory, although the biological parameters of ticks were less than those from cattle.
Animals ; Cattle* ; Female ; Humans ; Larva ; Ovum ; Rabbits* ; Rhipicephalus* ; Sheep* ; Ticks ; Vaccines ; Weights and Measures

Objective To detect the preliminary results of combined periacetabular and intertrochanteric osteotomies for complex hip dysplasia.Methods From January 2006 to August 2011,23 patients (25 hips) with complex hip dysplasia were treated with combined periacetabular and intertrochanteric osteotomies (ITO).Valgus ITO was performed on 2 hips and varus ITO on others.The averagc age of patients at the time of index procedure was 20.5± 3.9 years (range:15 to 26).The hip pain period before surgery varied from 5 to 24 months (mean 11±4.7 months).The Shenton's line was broken in every hip and the mean preoperative lateral central edge angle (LCEA) was 5.6°±4.6°.The average preoperative fenoral neck-shaft (CCD) angles were 158°±3.2° and 110° in 23 valgus hips and both of two varus hips respectively.The preoperative Harris hip score was 76.7±3.7.According to T(o)nnis osteoarthritis grades,there were 7 hips at grade 0,12 hips at grade Ⅰ and 6 hips at grade Ⅱ.Results The mean followup period was 40±18 months (range:12 to 78).The CCD angle (130°±2.1°),LCEA (28.6°±2.9°) and Harris hip score (90.8±3.3)were all improved postoperatively,whereas no progression was found in preoperative T(o)nnis grades.The postoperative Harris hip scores were excellent in 17 hips and good in 8 hips.The T(o)nnis osteoarthritis grades were grade 0 in 6 hips,grade Ⅰ in 11 hips and grade Ⅱ in 8 hips.There wcre six cases with lateral femoral cutaneous nerve injury,three cases with limp and two cases with broken Shenton's line.Neither femoral head necrosis nor bone nonunion was found in this study.Conclusion Satisfactory preliminary results could be obtained through combined periacetabular and intertrochanteric osteotomies among patients with complex hip dysplasia.The risk of femoral head necrosis and bone nonunion was low.