[Objective]To explore the technique and effect of anterior cervical decompression for the treatment of the mixed type of ossification of posterior longitudinal ligament. [Methods]Data on 37 patients(24 males and 13 females,with mean age of 54.3 years) who underwent resection or floating of posterior longitudinal ligament were reviewed.The occupying rate of OPLL ranged 32%~85% with an average of 51.4%.The Japanese Orthopaedic Association(JOA) scores ranged 4 ~14 points with an average of 7.9 points before operation.[Results]The Mean follow-up duration was 16 months(range,6~36 months).The JOA scores were 10.3 and 11.1 at 3 and 12 months after surgery.The results were excellent in 72.7% and good in 78.8%.[Conclusion]The resection of the longitude ligament and floating in anterior cervical decompression is a safe and effective treatment for the mixed type of ossification of posterior longitudinal ligament.

Objective:To establish a fluid dynamics model of upper airway before and after surgery and explore the changes of three-dimensional fluid dynamics in patients with micrognathia.Methods:A patient with micrognathia and severe obstructive sleep apnea-hypopnea syndrome(OSAHS)accepted CT scan before and six months after mandibular advancement operation.Computation-al fluid dynamics model was built on the base of CT scan by Mimics 1 0.01 and ANSYS ICEMCFD1 4.0.The internal flow of upper respiratory tract was simulated by ANSYS-FLUENT 1 4.0 and the results were analyzed by Tecplot.Results:Fluid dynamics model of upper airway was constructed before and after the surgery respectively.The volume of the upper airway of the patient increased from 37.284 cm3 to 44.498 cm3;the most narrow area of upper airway was located in the lower bound of pharyngopalatiae,and it was augmented from 1 .1 35 cm2 to 2.297 cm2;the minimum pressure was decreased from1 01 308 Pa to 1 01 272 Pa;the maximum air velocity increased from 3.476 m/s to 4.978 m/s.Conclusion:Mandibular advancement may correct the occlusal deformity,ex-panse the upper respiratory tract,decrease the negative pressure and maintain the patency of the airflow in the treatment of patients with micrognathia and OSAHS.

Objective To study the relationship of Wnt receptor signaling pathway and severe retinopathy of prematurity (ROP).Method From January 2011 to June 2015,preterm infants with severe ROP admitted to the NICU of our hospital were enrolled prospectively.Preterm infants with similar gestational age,gender,and age (in days) admitted to our hospital during the same period were selected as the control group.FZD4,LRP5,and ND gene mutations in Wnt receptor signaling pathway were examined.Result A total of 61 Chinese preterm infants were screened for these three candidate genes of Wnt receptor signaling pathway,32 in ROP group and 29 in control group.ND and FZD4 gene mutations were not found among all cases.Eight types of LRP5 mutations were found in 26 cases of ROP group,including 7 cases of Exon18 missense mutation [c.3989C ＞ T;p.Ala1330Val (rs3736228)],5 cases of Exon8 synonymous mutation (c.1647T ＞ C;p.Phe549Phe),5 cases of Exon6 intronic mutation [c.1412 + 8G ＞ A (rs4988319)],3 cases of Exon2 missense mutation [c.266A ＞ G;p.Gln89Arg (rs41494349)],2 cases of Exon21 intronic mutation [c.4349-17C ＞ T (rs372086596)],2 cases of Exon19 synonymous mutation (c.4089C ＞ T;p.Asp 1363 Asp),one case of Exon9 synonymous mutation (c.1 932G ＞ A;p.Glu644Glu),and one case of Exon16 missense mutation (c.3580C ＞T;p.Arg1194Cys).Three types of LRP5 mutations were found in 6 cases of the control group,including 4 cases of Exon8 synonymous mutation,one case of Exon19 synonymous mutation,and one case of Exon9 synonymous mutation.The positive rates of Exonl8 missense mutation and Exon6 intronic mutation in severe ROP group were significantly higher than the control group (P ＜ 0.05).Conclusion LRP5 gene mutations in Wnt receptor signaling pathway may be associated with the occurrence of severe ROP.

Gallbladder abdominal wall fistula is usually due to the acute cholecystitis with-out timely treatment, which leads the formation of abscess around the gallbladder, the gallbladder adhering to the abdominal wall and the abscess infiltrating into the skin to form a spontaneous abdominal wall fistula. Patient with gallbladder abdominal wall fistula may have the symptoms of cholecystolithiasis and acute cholecystitis. Ultrasound examination can detect the situation of gallbladder conveniently, including the internal echo after formation of abscess, the connection between the gallbladder and abdominal cavity, and the blood flow signal, to clarify the diagnosis for the subsequent treatment. The authors share the diagnosis and treatment experiences of an elderly patient with gallbladder abdominal wall fistula.

Objective Our purpose was to investigate the pathogenic gene mutation of a Han Chinese family with vitreous amyloidosis.Methods The 9 individuals(proband,1 affected member and 7 unaffected members) of the family were selected and their DNA was extracted from peripheral blood.The 4 exons of transthyretin(TTR) gene were amplified by polymerase chain reaction(PCR) technique.The amplified products of TTR gene were sequencing by Sanger technique.We also selected 100 unrelated healthy individual as the control group.Results By DNA sequencing,a heterozygous mutation was found in 4 of the 9 subjects from the family.The transition of adenine to cytosine(AAG ＞ ACG) was detectable in exon 2 of TTR,which changed the amino acid composition at codon 35 (Lys35Thr).This mutation did not presented in control group.Conclusion The heterozygosis mutation of TTR gene Lys35Thr should be a pathogenic mutation for the family with vitreous amyloidosis.

Objective To investigate the clinical efficacy of capecitabine metronomic chemotherapy in the maintenance of elderly patients with metastatic breast cancer. Methods Fifty-six patients with metastatic breast cancer treated in Jiangsu Shengze Hospital from April 2014 to April 2017 were randomly divided into two groups according to random number table method: metronomic chemotherapy group (n = 28) and conventional chemotherapy group (n = 28). The patients in the metronomic chemotherapy group were treated with capecitabine 500 mg, 2 times/d and continuous oral administration. The conventional chemotherapy group received capecitabine 1 250 mg, 2 times/d for 14 days, rested for 7 days, 21 days was a course of treatment.After two courses,the clinical efficacy,toxicity and quality of life were evaluated. Results There were no significant differences in RR and DCR between the metronomic chemotherapy group and conventional chemotherapy group (RR: 39.3 % vs. 42.8 %, DCR: 89.3 % vs. 85.7 %, both P > 0.05). The median progression-free survival (PFS) time in the metronomic chemotherapy group was 5.8 months (95 % CI 3.23-7.44, P= 0.764) and median overall survival (OS) time was 7.9 months (95 % CI 4.15-7.95, P=0.519). The median PFS time in the conventional chemotherapy group was 7.2 months (95 % CI 3.32-6.33, P=0.835), median OS time was 10.3 months (95 % CI 4.08-7.37, P=0.463). There was no significant difference between the two groups (both P> 0.05). The incidences of hand-foot syndrome, myelosuppression and digestive tract reaction in conventional chemotherapy group were higher than those in metronomic chemotherapy group, there were significant differences between the two groups (all P < 0.05). No Ⅲ-Ⅳ level adverse reactions were found in the metronomic chemotherapy group. The overall rate of improvement of the quality of life in the metronomic chemotherapy group was significantly higher than that in the conventional chemotherapy group (92.9 % vs. 78.8 %, χ 2= 7.629, P < 0.05). Conclusion The clinical efficacy of capecitabine metronomic chemotherapy in the maintenance of elderly patients with metastatic breast cancer is similar to conventional dose maintenance therapy,but it can not only reduce the side effects, but also improve the quality of life of patients.

This article reported a case of neonatal-onset autoinflammation with infantile enterocolitis (AIFEC) caused by NLRC4 gene mutation. The boy developed the disease in the neonatal period, presenting with recurrent fever, rash, hepatosplenomegaly and enterocolitis. Laboratory tests showed some indicators including ferritin and C-reactive protein were elevated. His condition was complicated by macrophage activation syndrome and anti-infective treatment was ineffective. High-throughput whole exome sequencing revealed a de novo heterozygous mutation of c.1021G>C (p.Val341Leu) in the NLRC4 gene and AIFEC was confirmed. AIFEC is a rare disease with no effective treatment at present, which can be developed in the neonatal period and diagnosed by whole exome sequencing.

OBJECTIVETo review the outcomes of three different methods of maxillomandibular advancement for the treatment of severe obstructive sleep apnea-hypopnea syndrome (OSAHS).

METHODSTwenty-four patients with severe OSAHS from January 2011 to January 2014 treated by three different methods of maxillomandibular advancement (MMA) and genioplasty, maxillomandibular advancement without rotation plus genioplasty, maxillomandibular advancement with counterclockwise rotation plus advancement genioplasty, maxillomandibular advancement with first premolars extraction and subapical osteotomy setback under general anesthesia were included in the study. Comparison of per-operative and post-operative cephalometric analysis, polysomnography (PSG), apnea and hypopea index (AHI), body mass index (BMI), average blood oxygen saturation (AOS), lowest oxygen saturation (LSaO2) and posterior airway space (PAS) data were performed. The operative time and post-surgical orthodontic treatment data were collected and analyzed.

RESULTSAccording to Stanford criteria, the success rate of 100% was achieved with all the three methods. The difference between per-operative and post-operative AHI, AOS, SNPg and PAS were statistically significant (P<0.0001) for all the three methods. Significant difference was found between per-operative and post-operative SNA (81.51°±3.36° vs 88.17°±4.51°, P<0.0001), (82.25°±2.71° vs 86.54°±3.65°, P=0.0002) and SNB (72.37°±3.99° vs 80.59°±3.40°, P<0.0001), (73.65°±3.80° vs 81.37°±2.96°, P<0.0001) among MMA without rotation plus genioplasty and MMA with counterclockwise rotation and advancement genioplasty respectively. However, no significant difference was found between the pre-operative and post-operative SNA (82.18°±4.27° vs 84.19°±2.70°, P=0.2015) and SNB (73.28°±3.04° vs 75.35°±2.56°, P=0.2640) among MMA with first premolars extraction and subapical osteotomy setback. The average duration of postoperative orthodontics treatment was 8.3 months.

CONCLUSIONSMMA and advancement genioplasty is an effective surgical management for severe OSAHS. Cephalometric analysis and computer aided design are needed for personalized surgical methods. MMA without rotation and advancement genioplasty method leads to the protrusive skeletal deformity. MMA with counterclockwise rotation and advancement genioplasty method is effective in curing severe OSAHS with little effect on facial profile. MMA with first premolars extraction and subapical osteotomy requires longer operative time and longer postoperative orthodontic treatment.

Body Mass Index ; Cephalometry ; Genioplasty ; methods ; Humans ; Mandibular Advancement ; methods ; Osteotomy ; methods ; Oxygen ; metabolism ; Polysomnography ; Sleep Apnea, Obstructive ; surgery ; Treatment Outcome

Objective:To evaluate the clinical outcomes of neutral wedge osteotomy assisted by determination of the center of rotation of angulation (CORA) at the distal humerus anatomical axis for cubitus varus deformity in children.Methods:From 2016 to December 2019, 20 children with cubitus varus after supracondylar fracture of the humerus were treated at Department of Orthopeadics, Children's Hospital of Wujiang District. They were 8 boys and 12 girls, aged from 4 to 12 years (average, 7.0 years). Standard anteroposterior X-ray films of bilateral humerus were taken preoperatively for measurement of Baumann angle, proximal anatomical axis (PAA) and distal anatomical axis (DAA) of bilateral humerus to determine the CORA and the varus deformity angle. A lateral closed neutral wedge osteotomy was performed around the CORA to correct the varus deformity. All children were immobilized with elbow plaster cast after operation. Elbow flexion and extension function, postoperative scar, and body surface carrying angle were recorded. The carrying angle and Baumann angle were also measured on elbow X-ray films. Elbow function was evaluated according to the modified Flynn elbow score at 24 months after operation.Results:All patients were followed up for 24 to 36 months (mean, 29.3 months). Elbow hyperextension was close to normal in 18 cases, and 5° hyperextension existed in 2 cases. The flexion was greater than 130°, averaging 133.1° (from 130° to 138°), in 15 patients. The flexion ranged from 110° to 130° in 5 patients. The Baumann angle was 99.0°±1.0° preoperatively and 76.0°±1.0° postoperatively; the carrying angle was -14.0°±1.0° preoperatively and 13.6°±1.0° postoperatively. There were significant differences between the above items between preoperation and postoperation ( P<0.05). According to the modified Flynn elbow score at 24 months after operation, the elbow function was excellent in 16 and good in 4 cases. The varus of 40° was corrected during surgery in one child. Fixation failure or correction failure occurred in none of the children before removal of the plaster or the Kirschner wire. Conclusions:In neutral wedge osteotomy assisted by determination of the CORA at the distal humerus anatomical axis, the CORA and angulation of the distal humerus inversion can be accurately determined so that the osteotomy line and the angulation correction axis can pass through the CORA to restore the humerus alignment with no displacement of the broken ends.

This article reported a male patient with neonatal onset mental retardation autosomal dominant 35 (MRD35). The boy presented with repeated convulsions, hypotonia, enlarged head circumference, congenital muscular torticollis and feeding difficulties in the neonatal period. Dynamic electroencephalogram showed paroxysmal epileptic discharges in the left central-temporal region. High-throughput whole-exome sequencing revealed a heterozygous mutation of c.139G>A (p.Glu47Lys) in the PPP2R5D gene, which was a de novo mutation not inherited from his parents. The child had significant developmental delay at the age of one year. MRD35 lacks typical clinical manifestations and requires whole-exome sequencing for definitive diagnosis. Currently, there is no specific treatment for MRD35 and symptomatic treatments, including rehabilitation training, language training and seizure control, are mostly adopted.