Posner-Schlossman syndrome (PSS) or glaucomatocyclitic crisis is a rare,unilateral recurrent inflammatory ocular hypertensive disease.Although it is typically self-limited and has benign prognosis,some cases were reported with advanced optic nerve cupping and associated visual field loss.Current therapeutic strategies are mainly focused on controlling intraocular pressure and reducing inflammation.These treatments may relieve acute episode of PSS,but could not decrease the recurrences.Therefore,the etiology of PSS is extremely important.This review summarized and analyzed the advances in the etiology and pathogenesis of PSS in recent twenty years,including microbial infection,allergy,abnormal vascular reactivity,autoimmune and endocrine.Infectious theories are most studied at present.The probabilities of varicella-zoster virus and herpes simplex virus as the etiology of PSS were considered to be very small.Heliobacter pylori was thought to be related to the pathogenesis of PSS and glaucomatous optic nerve injury.The most likely cause of PSS is cytomegalovirus infection,but there existed evidences that opposed the theory.Due to the small sample size and limit of technology,the evidences of allergy,abnormal vascular reactivity,autoimmune and endocrinic factors as the pathogenesis of PSS were not definite.In conclusion,no single factor could explain the etiology and pathogenesis of PSS,multiple factors such as external factor,internal factor and autogenous factor might be involved.

Objective To observe therapeutic effects of early scab-cutting combined with axis-like abdo-men skin flap implanting in patients with wrist deep electrical burns.Methods Retrospective study was employed to analyze 70 patients received axis -like abdomen skin flap implanting for wrist deep electrical burns.All the cases were separated with early scab-cutting group(35 cases)and delayed scab-cutting group(35 cases),according to types of skin flap implanting.The therapeutic effect for the two groups were evaluated with rate of infection,duration of healing,living rate of skin flap,grade of skin burning,and rate of amputate.Results In the early scab -cutting group,the rate of infection was 11%,the duration of healing was(24.0 ±6.0)days,the rate of amputate was 3%,the living rate of skin flap was 97.0%,the wound healing of class A was 94.3%.In the delayed scab-cutting group,the data were respectively 31%,(35.0 ±7.4)days,17.0%,31% and 28.6%.Compared with the data of the two groups,the difference had statistical significance(the chi-square value or T value were respectively 4.151,6.831,3. 968,31.895,3.968.All the P values was less than 0.05).Conclusion Early scab-cutting combined with varied sorts of skin flap implanting shown great benefits for treatment of wounded and facilitate rehabilitation in function of wrist,which suggest decrease rate of complications and minimized hospitalized duration.

Objective To observe the clinical effect of the anterolateral thigh flap in repairing defect caused by resection of malignant melanoma in the heel region.Methods 8 patients with heel malignant melanoma were trea-ted by surgery.The malignant melanoma was further diagnosed by histopathological examination.Their heel defects caused by large resection of malignant melanoma were treated by anterolateral thigh flap.Results All skin flaps sur-vived and all the patients could walk normally 1 month after operation.The recovery of the function and sense was well 6 months after operation.Compared with the another well heel,the flaps had normal texture,color and appearance of heel.8 patients had complete follow -up,ranged form 6 months to 3 years.All cases survived with neither local recur-rence nor distant metastasis.Conclusion The anterolateral thigh flap can achieve good clinical effect in treating heel defect caused by the resection of malignant melamoma.And especially apply in large skin and tissue defect of heel area.The flap can weight,wear -resisting and reduce overheating and over cold damage.The range of resection can not be restricted by local skin flap.The clinical effect is satisfied.

Objective To observe and analyze the clinical curative effect of the platelet rich plasma (PRP) in treatment of chronic difficult to heal the wound.Methods We selected 60 patients with chronic difficult healing wounds and they were divide into two groups at random,30 patients of A group,B group of 30 patients.All patients were given routine debridement,drainage and decompression treatment,B group was given autologous PRP wound injection and follow-up on the basis of conventional treatment.After injection of PRP,platelet count,platelet recovery and application of PRP granulation tissue growth and wound healing were observed.Results The wound healing effect at the 7th,14th,21 st day between the two groups,and compared with the 1 st day,the differences were statistically significant (A group:10.28％,22.16％,43.25％,65.78％;B group:18.75％,37.58％,61.84％,80.26％;X2:7.895,8.934,10.231,9.076,all P ＜ 0.05).Two groups of patients had obvious difference in healing time,in B group the average healing time was (12.6 ± 5.2) d,which in was (17.3 ± 7.4) d,the difference was statistically significant (t =1.932,P ＜ 0.05).Conclusion The PRP can effectively promote the wound repair of soft tissue,to promote healing of chronic difficult wound healing,the curative effect is distinct,it is worthy of clinical popularization and application.

Objective To explore the clinical characteristics and gene mutation in a patient clinically diagnosed as dopa-responsive dystonia (DRD) without family history.Methods The clinical characteristics of a patient clinically diagnosed as DRD without family history were collected and molecular and bioinformatic analyses were performed.Results The patient demonstrated as type A tyrosine hydroxylase deficiency and a compound heterozygous mutation of tyrosine hydroxylase (TH) gene was found,including a known nonsense mutation,c.457C＞T and a novel missense mutation,c.734G＞T that was probably pathologically predicted by bioinformatic analysis.Conclusion c.734G＞T may be a novel pathological mutation of TH gene.

Objective To investigate the correlation between hypoxia-inducible factor-1α (HIF-1α) expression and activation of phosphatidyl inositol 3-kinase and serine/threonine kinase signal pathway in the hippocampus of developing rats after status epilepticus (SE).Methods Fifty-four SD rats aged 21 days were randomly divided into control group (n=24),SE group (n=24),wortmannin treatment group (n=6); SE rat models of the SE group were induced by intraperitoneal injection of 1％ 1,5-Pentamethylenetetrazole (PTZ); rats of the control group received injection of normal saline (NS); for wortmannin treatmnet group,the rats received intraperitoneal injection ofwortmannin 30 minutes before the inducement; the brain tissues were harvested from the rats at 1,4,8 and 24 h after the inducement,but only at 4 h in the wortmannin treatment group.The HIF-1α and Akt positive cells were detected with irnmunohistochemistry method.HIF-1α,Akt and p-Akt protein expressions were measured by Western blotting.Results In SE group,the HIF-1α expression began to occur at 1 h,significantly increased at 4 h after inducement,reached the peak level at 8 h,and began to decrease at 24 h; Akt protein positive cells showed no significant difference between each two time points; the p-Akt protein was significantly increased at 1 h,reached the peak level at 4 h and began to decrease at 8 h.However,the expression levels of HIF-1α and p-Akt protein in the control group were extremely low at each time point.So,the HIF-1α expression level in the SE vehicle group was significantly higher than that in the control group (P＜0.05); the p-Akt protein expression in SE group at 1,4 and 8 h was significantly higher than that in the control group (P＜0.05).The changes of Akt protein in the SE group were not time-dependent,and no significant difference was evident when it was compared with that of the control group (P＞0.05).Using wortmannin,the PI3K/Akt specific inhibitor,HIF-lα protein expression was significantly decreased when it was compared with the SE vehicle group (P＜0.05).Conclusion After status epilepticus in the developing rats,the PI3K/Akt signaling pathway is activated and the pathway involves in regulating the HIF-1α expression.

OBJECTIVETo assess the efficacy of sacral neuromodulation (SNM) in patients with intractable constipation.

METHODSA total of 7 patients with intractable constipation were treated with pereutaneous test stimulation of the S3 nerve root and were assessed by sacral never stimulation system in our department from January 2013 to January 2014. Four of these 7 patients received operation for constipation before. The efficacy was assessed by bowel habit diary, clinic constipation scores, subjective questionnaire and clinical signs.

RESULTSThe constipation symptoms were improved significantly in all the 7 patients. The frequency and volume of defecation per week were increased obviously, and the average urine was increased. Six patients underwent permanent implantation of the SNS system. After a median 4 months follow-up, the defecation frequency increased from 0.6 ± 0.5 to 8.0 ± 2.5 per week (P<0.01), and the defecation time decreased from (22.9 ± 11.5) to (3.7 ± 0.8) min (P<0.01). The Cleveland clinic constipation score decreased from 24.6 ± 4.2 to 9.0 ± 0.9 (P<0.01), and the visual analogue scale(VAS) score increased from 8.1 ± 0.9 to 82.5 ± 5.2 (P<0.01).

CONCLUSIONSNM is a clinically efficacious, minimally invasive and safe new technique, which offers an alternative treatment for the patients with intractable constipation resistant to conservative treatment, especially for the patients refractory to traditional operations.

Objective:Charcot-Marie-Tooth disease (CMT) comprises a group of clinically and genetically heterogeneous inherited neuropathies with an estimated prevalence of 1 in 2500. This study aimed to analyze the clinical and mutational characteristics of Chinese CMT patients with MFN2, BSCL2 and LRSAM1 variants.Methods:In this study, genetic analysis was performed in 206 Chinese patients at Chinese PLA General Hospital from December 2012 to March 2020 with clinical diagnosis of CMT, and reported variants of MFN2, BSCL2 and LRSAM1 related to CMT2.Results:We reported ten MFN2 mutations in ten unrelated patients (7 male, 3 female), two of whom had positive family history. Three novel mutations were detected including c.475-2A>G (splicing); c.687dupA (p.E230Rfs*16) and c.558dupT (p.S186fs). We reported three BSCL2 mutations of four unrelated patients, including c.461C>G (p.S154W), c.461C>T(p.S154L), and novel variants of c.1309G>C (p.A437P) and c.845C>T (p.A282V). Furthermore, two novel variants of LRSAM1, including c.1930G>T (p.G644C) and c.1178T>A (p.L393Q) were detected in two unrelated patients.Conclusion:Mutational spectrum of MFN2-, BSCL2-and LRSAM1-related CMT disease is expanded with the identification of novel variants in Chinese patients.

The clinical manifestations of colorectal polyps are consistent with the characteristics of dampness, stickiness and heaviness. The TCM constitutions in the prone population are mostly related to dampness. The pathological changes of intestinal flora imbalance, intestinal micro inflammation, neuroendocrine immune network and abnormal aquaporin in colorectal polyps are consistent with the research results of modern mechanism of dampness pathogen. This article believed that the TCM pathogenesis of colorectal polyps caused by damp pathogen is the accumulation of spleen deficiency and dampness caused by improper diet, poor emotion and other factors, and the interweaving of various diseases and pathogens to form tangible foreign bodies. According to the pathogenic characteristics of damp pathogen and the pathogenic factors of colorectal polyps, the influence of damp pathogen on the pathogenesis of colorectal polyps was discussed, in order to provide an effective TCM theoretical basis for the diagnosis and treatment of colorectal polyps in clinic.