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.
During the medical rescue of Wenchuan earthquake, in accordance with the instruction of the Chinese Ministry of Health, West China Hospital set up the Medical Supply Center for Medical Teams from Other Provinces, put up standard storehouses within 10 hours, performed professional purchase, precisely distributed medical materials according to relevant demands, and decided the scientific route based on the distribution of medical teams from other provinces, so as to ensure the medical materials’ being delivered to the medical teams safely, promptly and accurately.
During the medical rescue after the earthquake, the Security Department of West China Hospital understood those factors affecting the hospital safety in the earthquake disaster, established emergent communication platform and information release channel, and opened up special areas and passages for the wounded, so as to ensure smooth passages for the rescue work, security of disaster-relief materials as well as an orderly, safe and stable medical environment.
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.
【Abstract】Objective To investigate the role of early surgical intervention in the treatment of fulminant acute pancreatitis (FAP).Methods Eight cases of FAP admitted to our institution from September 2003 to December 2004 were reviewed retrospectively.Results Averagely 3 organs dysfunction was diagnosed on admission or in the course of treatment in this group. One patient treated non-operatively was dead. Of 7 cases with early surgical intervention, one was died of ACS and ARF, One female patient with 32 weeks pregnancy survived, but the fetus was dead before surgery. Five cases were complicated with intra-abscess, which were cured re-operatively. Conclusion Early operative intervention in the treatment of FAP could prevent MODS and improve the survival.
The Department of Finance, West China Hospital, Sichuan University, Chengdu 610041, ChinaAbstract?During the medical rescue of the earthquake, the Department of Finance of West China Hospital initiated emergency response plan, not only ensured the security of funds of hospital in the earthquake, but also opened a green channel of emergent finance to the wounded, so as to assure more than 2?600 wounded people of their registration for emergency treatment, emergent disposal, hospitalization, operation and medication, the comprehensive, precise and prompt record of which offered the government the basic data and references to work out the policy of financial subsidy for the treatment of the wounded. Furthermore, the financial supervision and management of materials and funds of disaster relief were reinforced.
A 7.1-magnitude earthquake hit china again, 702 days after Wenchuan Earthquake at Yushu prefecture of Qinghai province, 4000 meters above sea level. Up to April 19th, the death toll climbed to 1706, with 256 missing and 12128 injured. West China Hospital, as a regional state-level hospital of Ministry of Health, organized the first batch of medical team with relief supplies at the first day after Yushu earthquake and rushed to Yushu taking part into the rescue effort in golden seventy-two hours. The second day after Yushu earthquake, medical apparatus and drugs valued 5,000,000 RMB were delivered to the rescue site and the second batch of medical team were positioned. Within thirty three hours after the earthquake, 102 people, including 93 earthquake related injuries and 9 armed police with severe altitude illness, were sent to our hospital by air in four batches successively. Based on the first-hand experience of medical rescue in Wenchuan Earthquake, a series of diagnosis and treatment criteria which were built and developed with evidence-based method, and “four concentration principles”, namely concentrating the wounded, concentrating the experts, concentrating resources, and concentrating treatments, our medical rescue in Yushu earthquake were carried out appropriately. Up to 12 am., April 19th, 93 cases from the disaster area have been treated, of whom 54 seriously wounded, 58 underwent operations and none death. The experience learnt from Wenchuan Earthquake have been used, improved and sublimated more rapidly, more appropriately, more effectively in the Yushu earthquake medical rescue.
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.