Retinitis pigmentosa (RP) is an inherited retinal disease characterized by degeneration of retinal pigment epithelial cells. Precision medicine is a new medical model that applies modern genetic technology, combining living environment, clinical data of patients, molecular imaging technology and bio-information technology to achieve accurate diagnosis and treatment, and establish personalized disease prevention and treatment model. At present, precise diagnosis of RP is mainly based on next-generation sequencing technology and preimplantation genetic diagnosis, while precise therapy is mainly reflected in gene therapy, stem cell transplantation and gene-stem cell therapy. Although the current research on precision medicine for RP has achieved remarkable results, there are still many problems in the application process that is needed close attention. For instance, the current gene therapy cannot completely treat dominant or advanced genetic diseases, the safety of gene editing technology has not been solved, the cells after stem cell transplantation cannot be effectively integrated with the host, gene sequencing has not been fully popularized, and the big data information platform is imperfect. It is believed that with the in-depth research of gene sequencing technology, regenerative medicine and the successful development of clinical trials, the precision medicine for RP will be gradually improved and is expected to be applied to improve the vision of patients with RP in the future.
ObjectiveTo preliminarily evaluate the feasibility of ultra-wide-angle fundus imaging (UWFI) to observe the Weiss ring (vitreous floats) and the effectiveness and safety of neodymium-doped yttrium aluminum garnet (Nd: YAG) laser ablation in the treatment of symptomatic Weiss ring. MethodsA retrospective clinical study. From March 2016 to December 2019, 80 eyes of 68 patients with symptomatic Weiss ring who were diagnosed and treated at Guangzhou Aier Eye Hospital were included in the study. Among them, there were 39 eyes in 32 males and 41 eyes in 36 females; the average age was 53.7±10.8 years old. All the affected eyes were examined by slit lamp microscope combined with 90 D front lens and UWFI. The position and shape of the vitreous floating objects by drawing pictures were recorded. All the affected eyes underwent Nd: YAG laser ablation treatment. Three months after treatment, a questionnaire survey was conducted on the patients to assess the improvement of subjective symptoms. Those with a total score of 10, 7-9, 3-6, and ≤2 points were defined as cured, significant improvement, partial improvement, and no improvement, respectively. The measurement software Gauge 1.0 was used to manually measure the long diameter, circumference and area of the vitreous float on the UWFI image. The diameter of the optic disc to 1 Unit (U) was set as a standardized reference value. Those who did not show UWFI and no floating objects were found on the front mirror were recorded as 0. The changes of vitreous floats before and after treatment were compared by Wilcoxon rank sum test; the changes in their size before and after treatment and the patients' subjective symptom improvement scores after treatment were analyzed by Spearman rank correlation. ResultsAfter treatment, in 80 eyes, there were no vitreous floats in 59 eyes (73.8%, 59/80) on UWFI. Before treatment, the circumference of the vitreous float was 1.84 (1.07, 2.64) U, the long diameter was 1.17 (0.84, 1.66) U, and the area was 0.18 (0.08, 0.30) U2; after treatment, the circumference was 0.00 (0.00, 0.23) U, The long diameter is 0.00 (0.00, 0.23) U, and the area was 0.00 (0.00, 0.01) U2. There were statistically significant differences in the perimeter, diameter, and area of floating objects before and after treatment (Z=−7.722, −7.560, −7.655; P＜0.001). The results of the questionnaire survey showed that the patient's subjective symptoms were cured, significantly improved, and partially improved in 49 (61.3%, 49/80), 25 (31.2%, 25/80), and 6 (7.5%, 6/80) eyes, respectively. The results of correlation analysis showed that the degree of improvement of the patient's subjective symptoms was related to the circumference (r=0.812), long diameter (r=0.796), and area (r=0.791) of the vitreous float on UWFI before and after treatment (P＜0.01). During the follow-up period, no complications such as increased intraocular pressure or decreased vision occurred. ConclusionsUWFI can objectively image the Weiss ring, and its size can be quantified relatively to the measurement software. Nd: YAG laser ablation treatment of symptomatic Weiss ring is safe and effective.
Behçet uveitis (BU), one of the common manifestations of Behçet syndrome, has a poor prognosis, high blinding rate, and severely impairs the quality of patients’ life. The current treatment principle mainly induce and maintain inflammation remission by suppressing the immune response. The glucocorticoid combined with immunosuppressive therapy for the treatment of BU has disadvantages such as long medication time, severe adverse effects, and poor long-term prognosis, whereas biologics have gradually attracted attention about the treatment of BU because of their high efficacy, low toxicity, and good long-term prognosis. The biologics used to treat BU include tumor necrosis factor-α inhibitors, interferon-α, interleukin blockers, and lymphocyte targeting preparations. It is believed that with the progress of various studies and clinical trials, the stepwise application of biologics is promising, and it is hopeful to provide more accurate and effective treatment for patients with BU in the future.
【摘要】 目的 评价简化肾脏病膳食改良试验（MDRDa）方程以及国内两个改良MDRD方程（中国方程1、2）预测中国慢性肾脏病患者肾小球滤过率（glomerular filtration rate，GFR）的适用性。 方法 选择2008年1-12月住院慢性肾病患者250例，用99mTc-DTPA肾动态显像法测定GFR（sGFR），同时测定血清肌酐、尿素氮，根据年龄和性别分别用简化MDRD方程、中国方程1和中国方程2预测GFR，即eGFRa （简化MDRD方程）、eGFR1 （中国方程1）和eGFR2（中国方程2），以sGFR为参考值，将估计的eGFRs进行比较。 结果 各方程eGFRs与sGFR之间呈显著相关关系。其中中国方程2的估算eGFR2与sGFR具有良好的一致性，总体偏差最小，准确性最高。 结论 中国方程2优于简化MDRD方程和中国方程1，可用于中国慢性肾病人群eGFR的计算。【Abstract】 Objective To evaluate the applicability of three equations for glomerular filtration rate (GFR) in Chinese patients with chronic kidney disease (CKD). Methods A total of 250 patients with CKD which were diagnosed according to K/DAQI guidelines between January and December 2008 were selected. GFR were estimated with Chinese equation 1 (eGFR1), Chinese equation 2 (eGFR2) and abbreviated MDRD (eGFRa) separately, and the results were compared with that of 99mTc-DTPA(sGFR). Results The eGFRs of the three equations were correlated significantly with sGFR. Chinese equation 2 seemed to be the best; eGFR2 showed less bias and higher accuracy than other equations. Conclusion Chinese equation 2 for estimation of GFR may be more accurate in Chinese CKD patients.
【Abstract】 Objective To investigate the clinical characteristics and prognosis of secondary lymphocytic interstitial pneumonia ( LIP) . Methods Clinical data of 9 cases with secondary LIP diagnosed from1990 to 2010 were retrospectively analyzed. Results Of 9 patients there were 3 males and 6 females,the range of age was 7-64 years. In the 6 adult patients there were 5 females. 2 cases were infected by EB virus and 1 by recurrent pulmonary infection in 3 non-adult patients. In the adult patients, 1 case was diagnosed with Sjogren’s syndrome, 1 case with overlapping syndrome, 2 cases with primary biliary cirrhosis,1 case was probably caused by infection, and 1 case was complicated with eosinophilia. Dominant symptoms of pulmonary system were cough, expectoration, and shortness of breath on exertion. Dominant systematic symptoms were asthenia, pyrexia, weight lose, and arthralgia. CT revealed diffuse ground glass opacities with a lower lung zone predominance. Pathologic feature of LIP was a diffuse, polyclonal lymphoid cell infiltration surrounding airways and extending to the lung interstitium. The patients were treated by glucocorticoid and immunosuppressants. Two cases died with secondary infection. Follow-up did not comfirm malignant tumors in the survivors. Conclusions The clinical features of LIP are characteristic, but lacking of specificity. The final diagnosis depends on pathological examination. Treatment targeted on primary diseases can probably have a good efficacy, and the clinical outcome is favorable.
【摘要】 目的 以99mTc-DTPA肾动态显像法肾小球滤过率（glomerular filtration rate，GFR）测定为标准，将血清胱抑素C（cystatin C， CysC）检测与其比较，探讨CysC测定在2型糖尿病肾病（type 2 diabetic nephropathy，T2DN）诊断中的意义。 方法 2010年6月—2011年1月76例2型糖尿病（type 2 diabetes mellitus，T2DM）患者按24 h尿微量白蛋白（microalbuminuria，m-Alb）分为两组:正常蛋白尿组（31例）和微量蛋白尿组（45例），同时测定GFR、CysC、血清肌酐（serum creatinine， Scr）和糖化血红蛋白（hemoglobin A1c， HbA1c），并设正常自愿者38名作为对照组，进行统计学分析。 结果 对照组、T2DM正常蛋白尿组及T2DM微量蛋白尿组CysC水平分别为（1.1±0.6）、（1.6±0.7）、（1.0±0.3） mg/L，各组差异均有统计学意义（Plt;0.05）；HbA1c水平分别为（5.4±0.6）%、（7.1±2.7）%、（7.9±3.1）%、两组T2DM患者与对照组比较，差异均有统计学意义（Plt;0.05）；GFR水平分别为（80.9±23.0）、（74.2±26.1）、（79.3±19.7） mL/（min•1.73 m2），各组差异无统计学意义（Pgt;0.05）；Scr水平分别为（87.7±23.8）、（93.7±38.4）、（81.5±11.4） μmol/L，组间差异无统计学意义（Pgt;0.05）。CysC、Scr和GFR之间呈负相关（r=-0.694，-0.692；Plt;0.001）；CysC和Scr之间呈正相关（r=0.903，Plt;0.001）。 结论 CysC可作为早期T2DN的检测指标，具有较高的敏感性，但对于轻度到中度GFR降低的诊断准确性并不优于Scr。【Abstract】 Objective To demonstrate the clinical value of serum cystatin-C (CysC) in the assessment of renal function in type-2 diabetic nephropathy (T2DN) by comparing it with the glomerular filtration rate (GFR) measured by 99mTc-DTPA method. Methods From June 2010 to January 2011, 76 patients with type 2 diabetes mellitus (T2DM) were classified into two groups according to their 24 h microalbuminuria (m-Alb) level: the normal albuminuric group (n=31) and the microalbuminuric group (n=45). GFR, Serum creatinine (Scr), CysC, and hemoglobin A1c (HbA1c) were measured. Thirty-eight healthy subjects were recruited as the control group, and statistical analysis was carried out. Results The CysC levels in the control group, the normal albuminuric group and the microalbuminuria group were respectively (1.1±0.6), (1.6±0.7) and (1.0±0.3) mg/L, with a significant difference among the three groups (Plt;0.05). HbA1c level in the three groups were respectively (7.1±2.7)%, (7.9±3.1)% and (5.4±0.6)%, with a significant difference between the two diabetic groups and the control group (Plt;0.05). Scr levels in the three groups were respectively (87.7±23.8), (93.7±38.4), (81.5±11.4) μmol/L; GFR levels in the three groups were respectively (80.9±23.0), (74.2±26.1), (79.3±19.7) mL/(min•1.73 m2); among the three groups the differences of both Scr and GFR were not significant. Both CysC and Scr were negatively correlated with GFR (r=-0.694,-0.692;Plt;0.001), and CysC was positively correlated with Scr (r=0.903, Plt;0.001). Conclusion Increased CysC may be an early indicator of incipient diabetic nephropathy, but the diagnostic accuracy of CysC is not superior to that of Scr in distinguishing between mildly and moderately reduced GFR.
Objective To investigate the clinical features of non-gastrointestinal mucosa-associated lymphoid tissue ( MALT) lymphoma.Methods Forty-eight pathologically proved cases of nongastrointestinal MALT lymphoma, admitted into Peking Union Medical College Hospital fromJanuary 2000 to July 2011, were retrospectively analyzed.Results There were 32 females and 16 males. The median age at diagnosis was 55. 4 years old ( range, 21-76 years) . The most commonly affected sites were lung, salivary glands, thyroid and ocular adnexa. In5 cases, the lymphoma presented at multiple mucosal sites. 27 patients were asymptomatic while 13 had non-specific symptoms. Blood test showed mild or moderate anemia in 8 cases, elevated erythrocyte sedimentation rate in 19 cases, and elevated lactate dehydrogenase in 6 patients.Imaging examinations revealed enlarged lymph nodes in 20 patients. 6 patients had a history of Sjoren’s syndrome, in whom3 cases were salivary gland diseases. In the patients with lung involvement, pathological diagnosis was obtained by bronchial biopsies in 3 cases, by CT-guided percutaneous lung biopsies in 11 cases, and by surgical biopsies in 9 cases. While in the patients without lung involvement, pathological diagnosis was obtained all by surgical biopsies. Of the 23 patients with lung involvement, 1 remain untreated,while 22 received various combinations of treatment ( surgery alone in 3 patients, surgery plus chemotherapy in 6 patients, and chemotherapy alone in 13 patients) . Of the 25 patients without lung involvement, 11 patients received surgery alone, 10 patients received surgery plus chemotherapy, 3 patients received chemotherapy alone, and 1 patient received surgery plus chemotherapy and radiotherapy. 46 patients remained alive during the median follow-up of 46. 7 months ( range, 4-133 months) . While 1 patient with lung involvement died from unknown causes, another 1 patient with lung involvement died from lung infection. Conclusions Non-gastrointestinal MALT lymphoma tends to occur in old-aged females, and commonly occurs in lung, salivary gland and thyroid sites. Most patients are asymptomatic or have only nonspecific symptoms. CT-guided percutaneous lung biopsies and surgical biopsies are helpful to the diagnosis.Prognosis for this lymphoma tends to be indolent.
Objective To investigate the financial burden of in-patients with thyroid diseases in the West China Hospital in Chengdu, Sichuan province, from January 2011 to December 2012, so as to provide baseline data for further research. Methods The data of in-patients (who had been discharged from the department of endocrinology and metabolism or discharged after being transferred to other departments for diagnosis and treatment in the West China Hospital in 2011) were collected from the Hospital Information System (HIS) of the West China Hospital, including basic information, initial diagnosis when the patients were discharged, hospital costs, the information about whether the patients had been registered the insurance in hospital, etc. We classified diseases according to ICD-10 based on the initial diagnosis when the patients were discharged on the first page of case reports. The data were input using Excel 2010 software, and statistical analysis was performed using SPSS 13.0 software. Results The results showed that: a) in 2011, 205 person-times were hospitalized in the department of endocrinology and metabolism, of which, 84 were male and 121 were female, with mean age of 45.3±15.7 years; b) for patients with thyroid diseases, median hospital stay was 10 days, the average cost of hospital stay for each patient was RMB 2 881.43 yuan, most of which was for lab tests and examination; c) the person-times of patients with hyperthyroidism was 162, accounting for 79.5% of the total of thyroid diseases, median hospital stay was 10 days, and the average cost of hospital stay was RMB 2 958.36 yuan; and d) there was no association between the number of hyperthyroidism complications and hospital stay and costs. Conclusion Thyroid diseases are a commonly-seen disease in the department of endocrinology and metabolism, of which, hyperthyroidism accounts for the most. There is no association between the number of hyperthyroidism complications and hospital stay/costs.