ObjectiveTo investigate the relationship between genotype and phenotype in children with CRB1 mutated Leber congenital amaurosis (LCA) and early onset retinal dystrophy (EOSRD).MethodsA retrospective clinical study. From January 2013 to December 2019, 10 children with CRB1 mutated LCA/EOSRD were enrolled in the study. The patients were identified as CRB1 mutation by the second generation targeted capture sequencing, Sanger sequencing and the family segregation analysis. All children underwent electroretinogram (ERG) and fundus examination. At the same time, 6 cases were examined by optical coherence tomography (OCT); 1 case was examined by fluorescein fundus angiography (FFA), 7 cases were examined by wide-angle laser scanning ophthalmoscope (UWF SLO).ResultsThere were 6 cases of LCA and 4 cases of EOSRD in 10 patients with CRB1 gene mutations. The average age of first visit was 3.61 years old. The light and dark wave of ERG was flat in 6 cases, and decreased in 4 cases. A total of 19 pathogenic mutations were detected. There were 1 homozygous mutation and 9 compound heterozygous mutations. There were 4, 2 and 1 cases of “copper-coin” like, “salt and pepper” like and “osteocyte” like pigment changes in retina, 1 case of “crystalline pigment” change and 2 cases of macular pigment scar. In 7 cases of UWF SLO examination, different degrees of para-arteriolar pigment epithelium retention (PPRPE) were found in the middle and peripheral fundus. In 6 cases examined by OCT, the outer layer of retina atrophied and the band of ellipsoid disappeared. Symmetrical cystoid macular edema, splitting cystoid macular degeneration and adhesion of epi-macular membrane to optic disc and macular area were found in 1 case, respectively, the retinal structure was rough and thickened, and the fovea became thinner in 3 cases. In FFA examination, 1 case showed uveitis-like changes with late optic disc fluorescein staining, macular fluorescence accumulation, strong fluorescence diffusing along the blood vessels in each quadrant, peripheral PPRPE of “frost-branch” like strong fluorescence.ConclusionThe relationship between genotype and phenotype of CRB1 mutation is complex, and PPRPE is a common characteristic change.
Objective To make a retrospective analysis on an early clinical outcome of total knee arthroplasty (TKA) for the knees with different degrees of flexion-contracture deformities. Methods Ninety-seven knees of 65 patients undergoing total knee arthroplasty with the Scorpio posterior-stabilized knee prosthesis from January 2000 to December 2003 were reviewed, including 51 osteoarthritis patients (74 knees) and 14 rheumatoid arthritis patients (23 knees). Thirtythree patients underwent unilateral TKA, and 32 patients underwent bilateral TKA. The average range of motion (ROM) before operation was 82.8°(range, 5-140°).According to the preoperative flexion-contracture degrees of the knees, these patients were divided into 2 groups, group A and group B. Group A consisted of the patients with flexioncontracture less than 20° (range, 0-15°), and group B consisted of the patients with flexion-contracture not less than 20° (range, 20-60°). In group A, the average flexion-contracture degree, ROM, KSS (knee society score), and function score were 10.7±8.0°, 104.6±20.0°, 29.1±18.0, and 32.6±20.7, respectively. But the corresponding data were much worse ingroup B than in group A, which were 28.2±7.8°, 60.8±26.6°, 12.1±13.2, and 26.8±18.1. All the operations were primary total knee arthroplasty, and they were performed by the same group of surgeons. The time for the prosthesis installed lasted for 25.6 minutes, and the average tourniquet time was 34.7 minutes. Three or four days after operation, the patients began the continuous passive motion (CPM) and active functional exercise of the knee.Results The patients were followed up for an average of 2 years and 7 months(range, 8 mon-3.5 yr). During the follow-up period, the average flexion-contracture degree, ROM, KSS, and function score in group A were 0.4±2.1°, 108.6±19.0°, 82.1±13.8, and 72.3±29.1, respectively; and the corresponding data in group B were 1.3±3.2°, 986±16.4°, 75.9±8.2, and 81.4±26.9, respectively. There was no significant difference between the 2 groups. No revision or deep infection was found. Conclusion The curative effect is mainly determined by the surgeon’s good operational skills, rich clinical experience, and familiarity with the prosthesis, and it is not influenced by severity of the knee flexioncontracture deformity. The knee ROM after TKA, which has a “toward middle ROM”phenomenon, is influenced by many clinical factors. It is very important for the patientto perform a functional exercise of the knee as early as possible after operation.
ObjectiveTo observe Leber's hereditary optic neuropathy (LHON) microperimetry features, discuss its significance in diagnosis and treatment of LHON assessment. MethodsA retrospective clinical study. A total of 13 LHON patients (25 eyes) diagnosed in Department of Ophthalmology of the First Affiliated Hospital of Army Medical University from May 2015 to May 2020 (disease group) were included in the study, including 9 males (18 eyes) and 4 females (7 eyes), and beginning with the age of 15.0 (10.0, 57.0). Ten healthy volunteers (19 eyes) were selected as the normal group, including 7 males (13 eyes) and 3 females (6 eyes), aged 22.0 (6.0, 46.0) years at the first diagnosis. According to the course is divided into: asymptomatic group (carriers), subacute (＜6 months), the dynamic group (6-12 months), chronic group (＞12 months). There were 7, 6, 5 and 7 eyes, respectively. All eyes underwent best corrected visual acuity (BCVA) and microperimetry. BCVA test was performed using the international standard visual acuity chart, which was statistically converted to the logarithm of the minimum Angle of resolution (logMAR) visual acuity. MP-3 microperimetry was used to perform microperimetry, and the mean sensitivity (MS) values of five regions were recorded: center, superior, temporal, inferior, and nasal. Mann-Whitney U test was used for comparison between two groups, and Kruskal-Wallis H test was used for comparison between multiple groups. ResultsCompared with the normal group, MS in the center, superior, temporal, inferior and nasal of the diseased group decreased, and the differences were statistically significant (Z=－5.629, －4.906, －5.630, －5.631, －5.227; P＜0.05). There were significant differences in different regions of MS between different course groups (H=12.296, 11.583, 10.110, 12.994, 8.663; P＜0.05). There were significant differences in logMAR BCVA and central MS between asymptomatic group and subacute group (P=0.040, 0.007). There were significant differences in temporal, inferior and superior MS between subacute group and dynamic group (P=0.026, 0.017, 0.018). Dynamic and chronic group, MS above the difference was statistically significant (P=0.031). Idebenone treatment significantly improved visual field defects in 4 of 23 eyes. ConclusionsIn the early stage of LHON, the central visual field defect gradually progresses to the temporal, inferior and superior areas, and the temporal and inferior areas are more severe. Visual field defects reached a stable level at 6-12 months. MP-3 can assist in early diagnosis of LHON, and provide reliable basis for efficacy evaluation.
Objective To explore the methods of early diagnosis of arteriosclerosis obliterans of lower extremity (ASOLE). Methods The related literatures on ASOLE detection means adopted clinically were reviewed, and their advantages and disadvantages were compared.Results Asymptomatic ASOLE could be discovered by determination of ankle brachial index (ABI) and toe brachial index (TBI), which was a good index for arterial function assessment of lower extremity. Pulse wave velocity (PWV) was more vulnerable and less sensitive than ABI, and therefore more suitable for screening of a large sample. ASI was an index to assess arterial structure and function, and it had a good correlation with PWV. Flow-mediated dilation (FMD) was a measurement evaluating the function of endothelial cell; Pulse wave measurement was simple, sensitive, and its result was reliable. Color Doppler ultrasonography could localizate the lesion and determine the degree of stenosis at the same time. Multiple-slice CT angiography (MSCTA) was more accurate than color Doppler ultrasonography, but its inherent shortcomings, such as nephrotoxicity of contrast agent, was still need to be resolved. 3D-contrast enhancement magnetic resonance angiography (CEMRA) had little nephrotoxicity, but a combination of other imaging methods was necessary. Microcirculation detections required high consistency of the measurement environment, but they were simple, sensitive and noninvasive, and therefore could be used for screening of ASO. Conclusion Publicity and education of highrisk groups, and reasonable selection of all kinds of detection means, are helpful to improve the early diagnosis of ASOLE.
With the continuous deepening of the practice related to the concept of enhanced recovery after surgery, patients with cervical spondylosis have higher expectations and requirements for postoperative rehabilitation. In order to improve the rehabilitation of patients with cervical spondylosis, and increase patient satisfaction, the orthopedics team of West China Hospital of Sichuan University has formulated a program for early ambulation after anterior cervical spine surgery based on the concept of enhanced recovery after surgery. This article introduces the program from the definition, background, feasibility, significance, and specific content of early ambulation for patients undergoing anterior cervical spine surgery, and aims to provide experience and reference for future clinical practice.
ObjectiveTo investigate the clinical effects of early enteral nutrition in severe thoracic trauma patients requiring mechanical ventilation. MethodsWe randomly allocated 60 patients with thoracic trauma requiring mechanical ventilation into two groups by drawing lots including an early enteral nutrition (EEN) group and a parenteral nutrition (PN) group in our hospital between January 2013 and September 2014 year. There were 30 patients in each group. We compared the recovery results of the patients between the two groups. ResultsAfter the treatment of 7 and 14 days, indicators in the EEN group were better than before significantly and better than those in the PN group; diarrhea rate average days of ICU and the average days of hospital decreased significantly with statistical differences (P<0.05). There was no statistical difference in ventilator-associated pneumonia or the incidence of stress ulcer between the two groups (P>0.05). ConclusionEarly enteral nutrition in severe chest trauma patients requiring mechanical ventilation may promote protein synthesis, improve the nutritional status of patients, correct negative nitrogen balance, reduce inflammation response, reduce the complications.
OBJECTIVE To introduce the technique of epiphysiolysis and epiphysis grafting in the treatment of early partial closure of the epiphysial plate in children, and evaluate its effect. METHODS Retrospective study was performed in 10 cases of cubitus varus and valgus, or genu varum and valgum due to early partial closure of the epiphysial plate, 6 cases received simple cuneiform osteotomy, and 4 cases received epiphysioloysis and epiphysis grafting. RESULTS Clinical outcoming after 6-month to 5-year’s follow-up showed 1 case deformity of recurrence and 2 cases of non-isometric limb after simple osteotomy, while no recurrence and isometric limb after epiphysiolysis and epiphysis grafting. CONCLUSIONEpiphysiolysis and epiphysis grafting may effectively prevent the recurrence of postoperative deformity, and restore the longitudinal growth of limb.
ObjectiveTo investigate the rule of lymph node metastasis in early gastric cancer (EGC) so as to provide a reasonable treatment. MethodsWe retrospectively analyzed the clinical data of 118 EGC patients who had been treated from January 2006 to December 2012,and a total of 8 potential factors associated with occurrence of EGC were evaluated by univariate analysis and multivariate logistic regression analysis. ResultsThe univariate analysis showed that ulcer,tumor size,depth of invasion and lymphatic involvement were correlated with lymph node metastasis (P<0.05).Multivariate logistic regression analysis showed that presence of an ulcer (OR=2.872),tumor of 3.0 cm or larger than that (OR=2.351),tumor invasion into the submucous layer (OR=3.461) and invasion into the lymphatic tubes (OR=1.784) were found to be independent risk factors. ConclusionLymph node metastasis of EGC is correlated with many factors,so EGC treatment choice should be made reasonably based on strict screening to exclude various risk factors before taking surgery.
Objective To analyze the clinical characteristics of patients treated with esophagectomy following endoscopic submucosal dissection (ESD) for early stage esophageal cancer or precancerosis and the reasons for esophagectomy. Methods We retrospectively analyzed the clinical data of 57 patients who were treated with esophagectomy following ESD in West China Hospital and Shanxian Hygeia Hospital from January 2012 through October 2016. There were 42 males and 15 females at age of 65.4 (52–77) years. There were 15 patients of upper thoracic lesions, the middle thoracic lesions in 34 patients, and the lower thoracic lesions in 8 patients. Results The reasons for esophagectomy included 3 patients with residual tumor, 8 patients with local recurrence, 37 patients with esophageal stricture, and 9 patients with dysphagia, although the diameter was larger than 1.0 cm. The pathology after esophagectomy revealed that tumor was found in 16 patients, including 3 patients with residual tumor and 8 with recurrent tumor confirmed before esophagectomy, and 5 patients with new-found recurrent tumor. Conclusion In the treatment of early stage esophageal cancer or precancerosis, the major reasons for esophagectomy following ESD include esophageal stricture, abnormal esophageal dynamics, local residual or recurrence.
Objective To summarize the cl inical characteristics of 596 patients with fracture in Wenchuan earthquake and to investigate the therapeutic methods and effects of early treatment. Methods From May 12th 2008 to May 21st 2008, 596 patients with fracture caused by Wenchuan earthquake were treated, including 283 males and 313 females aged1.9-102 years (median 43 years). The time from injury to hospital ization varied from 12 minutes to 4 days. There were 132 cases of upper extremity fracture, 496 cases lower extremity fracture, 10 cases clavicular fracture, 16 cases scapular fracture, 23 cases pelvis fracture, and 59 cases spinal fracture. Among them, 183 cases were open fracture and 413 cases were closed fracture. And 214 cases had multiple fracture (35.9%) and 68 cases had crush injury in l imbs which scored (6.84 ± 2.48) points according to the mangled extremity severity score (MESS). Thirty-six cases were combined with neurovascular injury. The wound of the open fracture was contaminated at different degrees, but no gas gangrene was observed. Open fracture was treated with suturing or no suturing after debridement, open reduction and internal or external fixation. Closed fracture was fixed with spl ints, cast and traction. Forty-nine patients whom were highly suspected as osseous fascia compartment syndrome received incision decompression timely, and 34 patients whose MESS were above 7.0 points or suffering from crush injury of l ifethreatening systemic symptoms received amputation. Results Apart from 34 patients receiving amputation, 460 patients achieved functional reduction of fracture after manipulative reduction and 102 cases got satisfactory reduction after surgery. Postoperatively, 289 patients were transferred to other hospitals. Among the rest 307 patients, 34 with severe wound infection were healed after multiple debridement, anti-infection, and skin flap transplantation (16 cases healed by first intention and 18 cases healed by second intention), 42 cases with crush syndrome were treated with open decompression and amputation, and nodeep venous thrombosis of lower l imb, stress ulcer and death were observed after operation (29 cases healed by first intention and 13 cases healed by second intention). Conclusion By aiming at the features of fracture caused by earthquake, the prompt and professional treatment can achieve good therapeutic effects.