Objective To analyze the clinical characteristics and to screen for causative mutations in CRX and GUCY2D genes in children with cone or cone-rod dystrophy. Methods Clinical data and genomic DNA was collected from 18 children with cone or cone-rod dystrophy, aged from 4 months to 8 years. The coding sequence of the cone-rod homeobox (CRX) gene and two exons of the retinal-specific guanylate cyclase GUCY2D gene (exons 2 and 8) were analyzed by using polymerase chain reaction(PCR) and heteroduplex combined with single-strand conformational polymorphism (heteroduplex-SSCP) analysis. Results All of the 18 patients manifested obvious visual impairment. Nystagmus, photophobia and mild ocular fundus changes were found in 13, 8,and 7 cases respectively. Normal fundus was seen in 11 cases. The visual acuity was less than 0.3 in 4 cases and was unable to measure in the other 14 cases because they were too young. Clinical ocular manifestations between cone and cone-rod dystrophy were overlapped. Mutation in the CRX and GUCY2D genes was not detected in the 18 children with cone and cone-rod dystrophy. Conclusion Visual impairment appeared more early and obvious than fundus changes in children with cone or cone-rod dystrophy. Mutation in the CRX gene may not contribute to this series of patients with cone and cone-rod dystrophy.

Objective To assess the diagnostic value of combining aortic dissection detection risk score (ADDRS)with D-dimer in patients with suspected acute aortic dissection(AAD). Methods We retrospectively identified 525 patients with chest pain and with calculated ADDRS and available D-dimer on admission between January 2015 and December 2016. ADDRS ≤1 was defined as ′low probability′ and that >1 as ′high probability′. Results AAD were diagnosed in 106(20.2%)patients. In patients with ADDRS of 0,1 case of AAD was identi-fied and in those with ADDRS of 1,40 were identified while in 76 patients with ADDRS of 2 and 3,71 cases of AAD were identified. D-dimer with threshold of 0.5 mg/L had a negative predictive value of 100%and a specificity of 76.6% in patients with ADDRS of 0. In patients with ADDRS of 1,D-dimer had a negative predictive value of 98.6%. D-dimer showed a negative predictive value of 99.6% and a positive predictive value of 22.3% in patients with low probability. Conclusions High ADDRS benefits confirming AAD. Low ADDRS combined with negative D-dimer is safe and efficient for ruling out AAD ,while low ADDRS with positive D-dimer needs further aortic imaging.

Objective To study the therapeutic effect of adjuvant chemotherapy and radiotherapy after operation in patients with mucoepidermoid carcinoma of parotid gland,and to screen the indicators ralated to the prognosis of tumor.Methods Eighty patients with mucoepidermoid carcinoma of parotid gland in First People′Hospital of Yibin of Sichuan Province from January 2005 to December 2009 were analysed retrospectively in our research.We studied the survival of patients who were treated wtih simple operation(30 cases)or postoperative adjuvant therapy(50 cases).Then we further analyzed the relationships between the prognosis of the patients and some variables (age,gender,smoking,alcohol drinking,lymph node metastasis,distant organ metastasis,treat-ment method,differentiation degree and T grading).Results Kaplan-Meier survival curves showed that patients with postoperative adjuvant therapy had longer PFS and OS than those without adjuvant therapy (94.4 months vs 69.3 months;114.9 months vs 96.7 months),with statistical significance (χ2 =11 .246,P =0.001 ;χ2 =15.803,P =0.001 ).COX univariate analysis showed that gender (χ2 =22.346,P =0.000),smoking (χ2 =7.891 ,P =0.041 ),lymph node metastasis (χ2 =12.371 ,P =0.005),distant organ metastasis (χ2 =9.81 3, P =0.002),treatment method (χ2 =25.261 ,P =0.000),differentiation degree (χ2 =4.361 ,P =0.006)and T grading (χ2 =5.336,P =0.01 4)were related to the PFS of patients.COX multivariate analysis showed that lymph node metastasis (χ2 =11 .003,RR =2.827,95%CI:1 .965-3.851 ,P =0.011 ),distant organ metastasis (χ2 =7.611 ,RR =0.472,95%CI:0.240-0.775,P =0.016),treatment method (χ2 =24.542,RR =5.390, 95%CI:3.585-9.602,P =0.000),degree of differentiation (χ2 =3.221 ,RR =2.1 1 8,95%CI:1 .845-4.719, P =0.009)and T grading (χ2 =4.336,RR =0.804,95%CI:0.681 -0.916,P =0.024)were related to the PFS of patients.COX univariate analysis showed that smoking (χ2 =4.551 ,P =0.008),alcohol drinking (χ2 =11 .742,P =0.048),lymph node metastasis (χ2 =14.886,P =0.009),distant organ metastasis (χ2 =6.71 3, P =0.005),treatment method (χ2 =22.411 ,P =0.000),degree of differentiation (χ2 =8.1 16,P =0.012)and T grading (χ2 =14.443,P =0.035)were related to the OS of patients.COX multivariate analysis showed that lymph node metastasis (χ2 =11 .711 ,RR =2.985,95%CI:1 .521 -3.999,P =0.005),distant organ metastasis (χ2 =5.390,RR =0.400,95%CI:0.201 -0.793,P =0.009),treatment method (χ2 =19.327,RR =5.086, 95%CI:3.241 -8.006,P =0.000),degree of differentiation (χ2 =7.084,RR =2.301 ,95%CI:1 .908-4.503, P =0.001 )and T grading (χ2 =1 3.229,RR =0.561 ,95%CI:0.348-0.867,P =0.040)were related to the OS of patients.Conclusion Adjuvant radiation and chemotherapy can obviously prolong the PFS and OS for the patients with mucoepidermoid carcinoma of parotid gland.Lymph node metastasis,distant organ metastasis,treat-ment method,differentiation degree and T grading can greatly influence the prognosis of patients with mucoepider-moid carcinoma of parotid gland,which can be used as independent prognostic indicators for the patients with mucoepidermoid carcinoma of parotid gland.

Objective To evaluate the long-term efficacy of vascularized pisiform transfer for patients with Kienb(o)ck's disease in Lichtman stages Ⅲ-Ⅳ. Methods Eleven patients were reviewed to analyze results after lunate resection and vascularized pisiform transfer for Lichtman stages Ⅲ and Ⅳ. There were six men and five women. Age ranged from 20 to 67 years with a average of 41.0±14.3 years. According to Lichtman stage. There were 4 cases in stage Ⅲa, 5 cases in stage Ⅲb, and 2 cases in stage Ⅳ. Assessment criteria included subjective assessment of pain, visual analogue scale (VAS), range of motion (ROM), grip power,Cooney wrist score and radiographic changes on each follow-up visit. The radiographic changes including pis iform bone location, shape, sclerosis change, osteoarthritis, carpal height ratio, Nattrass index, Radioscaphoid angle and ulnar variance were recorded. Results The follow-up periods of all of cases were 61-202 months,with an average of 104.1 months. Pain had improved in 10 patients and disappeared in 7 cases. The VAS score was 2.2±1.9 at follow-up visit. Range of motion of injured wristw as only 65.3% of opposite side. Grip power was 84.3% of the contralateral hand. According to Cooney score, the results were excellent in 1 case, good in 7cases, fair in 2 cases and poor in 1 case, with the excellent and good rate of 72.7%. Radiologically, 8 cases had normal position of the pisiform bone, 2 had volar displacement and 1 had ulnar displacement which leaded to widen scaphopisiform space. Six pisiform bones had normal trabecular structure, three had degenerative changes. Bone sclerosis was seen in 2 cases and osteoarthritis was found in 3 patients. Compared with radiographic parameter before surgery, carpal height ratio and Nattrass index significantly lowered and radioscaphoid angle significantly increased. Conclusion Lunate resection and vascularized pisiform transfer is an effective method for Kienb(o)k′s disease in stages Ⅲ-Ⅳ. Although carpal collapse appeared postoperatively,the results show high patient satisfaction and good function after vascularized bone transplantation.

AIM: To understand the effect of the RB1 gene mutation on the function of pRB (the protein product of the RB1 gene) in the patients with retinoblastoma (RB). METHODS: The genomic DNA from retinoblastoma patients was extracted. After amplification, the promoter and all 27 exons were screened by SSCP-heteroduplex method. The mutation was cloned and identified by sequencing. The effect of the mutation product on the function of pRB was analyzed. RESULTS: One missense mutations of the exon 4 of the RB1 gene was identified in the genomic DNA from RB patients. This mutation was outside the large pocket of the pRB. No mutation of the RB1 gene was found in the genome DNA of the patient's parents. This is the fourth report that there was a genome mutation located outside the large pocket of pRB in the RB patients. CONCLUSION: The amino-terminus of the pRB may be essential for growth suppression.

ObjectiveTo compare the clinical effect of percutaneous iliosacral screws osteosynthesis (PISO) and open reduction internal reconstruction plate fixation in treating unstable pelvic fractures combined with sacroiliac joint dislocation,and evaluate their safety and practicality.MethodsFrom March 2004 to October 2010,37 patients with vertical unstable pelvic fractures were admitted to our department.Twenty cases were treated with percutaneous sacroiliac screw fixation and 17 cases were performed opened reduction and internal reconstruction plate fixation under C-arm X-ray's guide.The perioperative parameters and postoperative imaging indexes were compared and analyzed.ResultsAll patients were followed up for 6 months to 26 months,with an average of 15 months.There were statistical significances between the PISO group and open reduction internal fixation group in operation time,blood loss,postoperative pain,mean fever time and hospital stay.The two groups showed no significant difference on postoperative X-evaluation of reduction effect.The average healing time was 3.2 months and the difference was not statistically significant between two groups.PISO group had no complications such as infection,bent nails or broken nails.ConclusionThrough compared and analyzed the two groups in treating unstable pelvic fractures,the percutaneous sacroiliac screw fixation has been proved for a kind of ideal minimally invasive surgery method because of locating exactly,less damage and blood loss,milder pain and quicker recovery.But it demands higher operation techniques.Adequate preoperative preparation and postoperative patients' cooperation can reduce complications incidence.The second group of anterior reconstruction plate or T-shape plate to fix vertically unstable pelvic fractures at same time shows a good result of stabilization.

AIM: To investigate the single nucleotide polymorphisms (SNPs) in the METTL4 gene which was mapped to 18p11.31, and the relationship between the SNPs and high myopia. METHODS: Genomic DNA was collected from 71 control subjects and 177 individuals with high myopia. Among them, there were 59 autosomal dominant high myopia probands (AD group), 46 autosomal recessive probands (AR group) and 72 patients non-transmitted (SF group). The exons of METTL4 gene were analyzed by polymerase chain reaction, heteroduplex-single strand conformation polymorphism (HA-SSCP) and sequencing. RESULTS: There were 2 SNPs of METTL4 gene in high myopia individuals and control subjects: SNP7438A→C, Glu230Asp, which hadn't been reported in GenBank;and SNP131C→A, Gln310Lys. SNP7438A→C genotypes between controls and high myopia groups were not different. SNP131C→A genotypes between controls and AR or SF groups were not different, while SNP131C→A genotypes showed a significant difference between AD group and control subjects. CONCLUSION: In METTL4 gene, SNP7438A→C is not responsible for high myopia. Further studies are needed to confirm whether SNP131C→A is responsible for autosomal dominant high myopia.

To evaluate the application of blood salvage techmque in spine orthopaedic operation. 26 cases of spine orthopaedic operations were divided into two groups. Group A received homologous blood transfusion. Group B received intraoperative blood salvage by cell saver in spine orthopaedic operations. No complications of transfusion and dysfunciton were found in all pateints. The results showed that blood salvage technique can decrease effectively the need of homologous blood transfusion in spine orthopaedic operation and can be used safely in clinical practice.
Adolescent ; Adult ; Blood Transfusion, Autologous ; methods ; Child ; Child, Preschool ; Female ; Humans ; Male ; Orthopedic Procedures ; Scoliosis ; surgery

Objective To investigate the effects of different approaches of periacetabular osteotomy(PAO)on traumatic stress,lower limb strength and prognosis of acetabular dysplasia(DDH).Methods Ninety-seven patients with DDH in our hospital from January 2021 to January 2022 were randomly divided into two groups.Among them,48 patients in the control group received conventional ilioinguinal approach PAO treatment,while 49 patients in the study group received modified ilioinguinal approach PAO treatment.The surgical and postoperative rehabilitation indexes,Mckay clinical efficacy,lower limb line of force,complications,traumatic stress factors before and after surgery[adrenalin(NE),cortisol(COR),angiotensin Ⅱ(AngⅡ)],hip imaging indexes[anterior CE Angle(ACEA),lateral CE Angle(LCEA),acetabular index(AI)]and changes were compared between the two groups Good Harris hip function Score(mHHS),hip outcome score Daily Living Ability Scale(HOS-ADL).Results The operation time of the study group and the control group were(128.64±18.73)min and(141.80±21.59)min respectively,the intraoperative blood loss were(472.95±35.18)ml and(495.68±40.26)ml respectively,the postoperative drainage were(242.39±32.74)ml and(305.81±39.56)ml respectively,and the hospital stay were(11.57±2.29)D and(12.86±2.41)d respectively,with significant differences between the two groups(P＜0.05);The excellent and good rate of McKay's clinical efficacy in the study group(95.92％)was higher than that in the control group(81.25％),and the differences were statistically significant(P＜0.05);Serum NE in the study group and control group at 1 d,3 d,and7 d postoperatively were(73.16±8.07)ng/L and(81.33±8.52)ng/L,(65.81±7.29)ng/L and(72.24±7.65)ng/L,(45.98±6.31)ng/L and(50.37±7.02)ng/L,respectively,and COR were(164.84±19.35)ng/L and(178.62±21.46)ng/L,(142.69±17.81)ng/L and(157.36±19.22)ng/L,(88.79±16.13)ng/L and(97.62±17.50)ng/L,respectively,and AngⅡ was(138.74±20.51)mmol/L and(150.19±21.36)mmol/L,(128.35±17.69)mmol/L and(137.18±19.24)mmol/L,and(119.82±17.41)mmol/L and(128.73±18.50)mmol/L,respectively,and the differences between the two groups were all statistically significance(P＜0.05);ACEA at 3,6,and 12 months postoperatively in the study and control groups were(29.71±4.81)° and(27.68±4.53)°,(29.80±4.75)° and(27.72±4.60)°,(29.64±4.79)° and(27.63±4.51)°,respectively,and LCEA was(33.79±6.12)° and(31.04±5.83)°,(33.82±6.10)° and(31.10±5.90)°,(33.75±6.08)° and(31.05±5.77)°,and AI was(6.15±1.86)° and(7.03±1.94)°,(6.08±1.82)° and(7.01±1.89)°,(6.12±1.84)° and(7.06±1.90)°,respectively.mHHS scores was(72.15±7.65)and(68.23±7.71),(76.51±7.52)and(72.19±7.94),(90.13±5.16)and(86.76±5.72),and HOS-ADL scores were(79.92±7.50)and(76.26±7.62)points,(80.85±7.42)and(77.13±7.66)points,(89.73±6.37)and(86.25±7.15)points,and the differences between the two groups were statistically significant(P＜0.05);the comparison of lower limb force lines and complications between the two groups showed no statistically significant differences(P＞0.05).Conclusion Modified ilioinguinal approach PAO in the treatment of DDH can optimize the operation,reduce traumatic stress factors,further improve the curative effect,improve the status of femoral head coverage and hip function,and improve the quality of life,with high safety.

Objective: To observe the clinical efficacy and safety of the patients of myelodysplastic syndromes-refractory anemia with excess blasts (MDS-REAB) treated with decitabine alone or based on low dose cytarabine (Ara-C) regimen CAG/HAG [aclarubrci (ACR) /homoharring-tonine (HHT) +cytarabine+granulocyte colony stimulating factor (G-CSF) ]. Methods: Totally 121 patients with MDS-REAB were retrospectively analyzed, including 59 patients treated with decitabine alone (20 mg·m^-2·d^-1 for 5 days) , the rest 62 ones treated with low-dose Ara-C-based regimen CAG/HAG. Overall response rate (ORR) , overall survival (OS) and adverse events of the two groups were analyzed and compared retrospectively. Results: The ORR of decitabine alone or CAG/HAG were 66.2% and 56.4% respectively, with no statistically significant differences (χ²=1.185, P=0.276) . Initial response rate detected by the end of first cycle of CAG/HAG was higher than that of decitabine alone (94.3% vs 69.2%) , there was statistically significant difference in the overall comparison of two groups (χ²=7.612, P=0.009) . The median OS of decitabine alone was 19.5 (95% CI 10.5-28.4) months, the median OS of CAG/HAG was 20.3 (95% CI 10.7-29.9) months, with no statistically significant differences (χ²=0.004, P=0.947) . Grade 3-4 cytopenia and infection were the most prevalent adverses of two group patients. Grade 3-4 cytopenia rate of CAG/HAG was higher than that of decitabine alone (100.0% vs 64.4%, P<0.001) . The infection rate detected at third cycle of CAG/HAG was higher than that of decitabine alone (52.9% vs 15.2%, P=0.008) . Conclusion The efficacy of treating MDS-RAEB with decitabine alone or CAG/HAG was equivalent. CAG/HAG treatment came into effect faster, but decitabine alone treatment was safer.