ObjectiveTo provide the possibility to explain the relationship between genotype and phenotype, and to provide reference for the clinical treatment of Sleep-related hypermotor epilepsy (SHE). MethodsWe retrospectively analyzed the case data of the child (patient 1) diagnosed with SHE in the outpatient department of the Second Affiliated Hospital of Wenzhou Medical University in December 2017, and inquired about his family history and growth and development history. We learned that the father (patient 2) of the child had a history of epilepsy, and we also collected his medical history and growth and development history of patient 2. We carried out the basic physical examination for the two patients, and basic blood routine and blood biochemical indicators have also been done. In addition, electroencephalogram, Wechsler intelligence assessment and cranial magnetic resonance imaging were performed. After the diagnosis of patients 1 and 2, we treated them with antiepileptic drugs and make them long-term follow-up. What’more, we collected the peripheral blood of patient 1 and his father and mother, sequenced the gene, established phylogenetic tree for the mutation gene, and compared the homologous protein sequence to judge the conservation of the mutation. Moreover, in silico analysis was used to analyze the pathogenicity of the mutant gene. ResultsWe find a family with epilepsy, of whom patient 1 and his father are with epilepsy. Their clinical manifestations are atypical, and their seizures are all in sleep. After a long-term follow-up of two patients' drug treatments, it is found that patient 1 and patient 2 respond well to the drugs. Gene test shows that the mutations of DEPDC5 (c.484-1del c.484_485del) and KCNQ2 (c.1164A> T) are at the same site in both patient 1 and patient 2, and the mutation sites are first reported. What’more, the homologous protein alignment shows that the amino acids corresponding to the two mutant genes are highly conserved. ConclusionThis study mainly reports a family with sleep-related hypermotor epilepsy. Patients 1 and patient 2 have novel mutations of DEPDC5 and KCNQ2 genes. In the long-term follow-up of this study, it is found that the patients are effective the antiepileptic drugs.
【摘要】 目的 了解不同糖代谢状态的人群空腹及口服葡萄糖耐量实验（oral glucose tolerance test，OGTT）餐后胰高血糖素样态-1（GLP-1）和葡萄糖依赖的促胰岛素多态（GIP）水平。 方法 将受试者根据OGTT结果分为3组:正常糖耐量组（NGT，n=61例），糖耐量受损组（IGT，n=53）和2型糖尿病组（T2DM， n=66）。采空腹及糖餐后2 h静脉血检测GLP-1和GIP水平。 结果 T2DM组空腹GLP-1水平低于NGT和IGT组（Plt;0.05）。NGT和IGT的空腹GLP-1水平差异无统计学意义（Pgt;0.05）。餐后GLP-1水平三组差异无统计学意义（Pgt;0.05）。空腹及餐后GIP水平在NGT、IGT和T2DM均呈逐渐增加的趋势，而且同OGTT-0 h和OGTT-2 h血糖水平呈正相关（r=0.384，0.426；Plt;0.05）。 结论 不同的GLP-1和GIP水平也许是IGT和T2DM胰岛素分泌能力不同的原因之一。【Abstract】 Objective To investigate the fasting, and after oral glucose tolerance test (OGTT), the postprandial levels of glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic polypeptide (GIP) in Chinese people with different degrees of glucose tolerance. Methods Based on the results of OGTT, 180 subjects were divided into three groups: normal glucose tolerance group (NGT group, n=61), impaired glucose tolerance group (IGT group, n=53) and type-2 diabetes mellitus group (T2DM group, n=66). Fasting venous blood and the venous blood 2 hours after OGTT was sampled to detect GLP-1 and GIP levels. Results The fasting GLP-1 level in the T2DM group was significantly lower than that in the NGT and IGT groups (Plt;0.05). There was no significant difference in fasting GLP-1 level between NGT and IGT groups (Pgt;0.05). There was no significant difference in GLP-1 level 2 hours after OGTT among all the three groups (Pgt;0.05). GIP level gradually increased in the order of NGT, IGT and T2DM both before and after glucose load, and it was positively correlated with glucose levels just after OGTT and 2 hours after OGTT (r=0.384,0.426;Plt;0.05). Conclusion Different GLP-1 and GIP levels may be one of the reasons for different insulin secretion ability between IGT and T2DM
In recent years, immune checkpoint inhibitor therapy has changed the treatment of various malignant tumors. Immunotherapy for specific targets currently plays an important role in melanoma, lung cancer and other tumors. Malignant pleural mesothelioma (MPM) is an aggressive malignant tumor. Although the treatments include surgery, chemotherapy and radiotherapy, the clinical efficacy is limited, and the prognosis of advanced patients is poor. With the application of monoclonal antibodies such as programmed death 1/programmed death ligand 1 and cytotoxic T-lymphocyte antigen 4, MPM patients have more treatment options. And compared with traditional chemotherapy, immunotherapy may have the effect of improving survival and shrinking tumors. This article will summarize the current clinical trials of immunotherapy in MPM, and explain the current application and progress of immunotherapy in MPM from both single-agent immunotherapy and combined immunotherapy.
ObjectiveTo investigate the clinical efficacy of preoperative location of pulmonary nodules guided by electromagnetic navigation bronchoscopy (ENB). MethodsPatients who received preoperative ENB localization and then underwent surgery from March 2021 to November 2022 in the Department of Thoracic Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine were collected. The clinical efficacy and safety of ENB localization and the related factors that may affect the success of ENB localization were analyzed. ResultsInitially 200 patients were included, among whom 17 undergoing preoperative localization and biopsy were excluded and a total of 183 patients and 230 nodules were finally included. There were 62 males and 121 females with a mean age of 49.16±12.50 years. The success rate of navigation was 88.7%, and the success rate of ENB localization was 67.4%. The rate of complications related to ENB localization were 2.7%, and the median localization time was 10 (7, 15) min. Multi-variable analysis showed that factors related to successful localization included distance from localization site (OR=0.27, 95%CI 0.13-0.59, P=0.001), staining material (OR=0.40, 95%CI 0.17-0.95, P=0.038), and staining dose (OR=60.39, 95%CI 2.31-1 578.47, P=0.014). Conclusion ENB-guided preoperative localization of pulmonary nodules is safe and effective, and the incidence of complications is low, which can be used to effectively assist the diagnosis and treatment of early lung cancer.
ObjectiveTo systematically review the efficacy of five types of rehabilitation exercises, including Baduanjin, aquatic exercise, Taijiquan, somatosensory exercise and whole body vibration training for the intervention of motor function in stroke patients. MethodsWeb of Science, PubMed, EMbase, The Cochrane Library, CNKI, CBM, CSJD and WanFang Data databases were electronically searched to collect randomized controlled trials (RCTs) of rehabilitation exercise interventions for motor function in stroke patients from inception to October 2020. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies; then, network meta-analysis was performed by using R and ADDIS software. ResultsA total of 50 RCTs involving 1 838 patients were included. The results of the meta-analysis showed that all five types of rehabilitation exercises were superior to conventional rehabilitation group in terms of balance in stroke patients (P<0.05), with the best ranking occupied by Baduanjin. In terms of lower limb strength, only the aquatic exercise was superior to conventional rehabilitation (P<0.05). In terms of walking function, somatic training and aquatic exercise were superior to conventional rehabilitation (P<0.05), with somatic exercises ranking first. ConclusionCurrent evidence shows that Baduanjin has an advantage in improving the balance, somatosensory interactive game exercise has an advantage in improving the walking capability and aquatic exercise has an advantage in improving the lower limb strength of stroke patients. Due to limited quality and quantity of the included studies, more high-quality studies are needed to verify the above conclusion.
Objective To explore the risk factors of female’s breast cancer in secondary cities of the west and establish a risk prediction model to identify high-risk groups， and provide the basis for the primary and secondary preve-ntion of breast cancer. Methods Random sampling （method of random digits table） 1 700 women in secondary cities of the west （including 1 020 outpatient cases and 680 physical examination cases） were routinely accept the questionnaire survey. Sixty-two patients were confirmed breast cancer with pathologically. Based on the X-image of the mammary gland patients and questionnaire survey to put mammographic density which classificated into high- and low-density groups. The relationships between the mammographic density， age， body mass index （BMI）， family history of breast cancer， socio-economic status （SES）， lifestyle， reproductive fertility situation， and breast cancer were analyzed， then a risk prediction model of breast cancer which fitting related risk factors was established. Results Univariate analysis showed that risk factors for breast cancer were age （P=0.006）， BMI （P=0.007）， age at menarche （P=0.039）， occupation （P=0.001）， domicile place （P=0.000）， educational level （P=0.001）， health status compared to the previous year （P=0.046）， age at first birth （P=0.014）， whether menopause （P=0.003）， and age at menopause （P=0.006）. The unconditional logistic regr-ession analysis showed that the significant risk factors were age （P=0.003）， age at first birth （P=0.000）， occupation （P=0.010）， and domicile place （P=0.000）， and the protective factor was age at menarche （P=0.000）. The initially established risk prediction model in the region which fitting related risk factors was y=-5.557＋0.042x1-0.375x2＋1.206x3＋0.509x4＋2.135x5. The fitting coefficient （R square）=0.170， it could reflect 17% of the actual situation. Conclusions The breast cancer risk prediction model which established by using related risk factors analysis and epidemiological investigation could guide the future clinical work，but there is still need the validation studies of large populations for the model.
ObjectiveTo investigate the effectiveness of self-made limb chronic wound closure device in the treatment of scarred lower limbs and complex skin and soft tissue defects.MethodsBetween January 2014 and January 2017, 29 patients with complex fractures of the lower extremities and skin and soft tissue defects were treated. There were 19 males and 10 females with an average age of 31.1 years (range, 21-66 years). The causes of injury included 14 cases of traffic accidents, 5 cases of falling from height, 4 cases of heavy object crushing injury, 4 cases of mechanical crushing injury, and 2 cases of exposed steel plate after fracture. There were 26 cases of calf fracture and skin defect, 3 cases of metatarsal bone fracture and skin defect of the foot. The skin defect ranged from 5 cm×3 cm to 18 cm×8 cm. The time from injury to admission was 5-31 days, with an average of 14.3 days. All patients underwent a thorough debridement, open wound drainage, self-made chronic wound closure device combined with Ilizarov stretching technique for a slow skin and soft tissue traction. After the wound was cleaned up and the granulation tissue was freshened, the skins on both sides were closed, and then proceed to the second stage operation of skin grafting or direct suture closure based on the size of the wound.ResultsAll patients were followed up 8-20 months, with an average of 13 months. Twenty-nine patients were treated with self-made chronic wound closure device combined with Ilizarov technique for 1-2 times with an average of 1.3 times, then the wound infection was controlled and the granulation tissue grew well. In the course of treatment, the pain was not obvious and the patients had good compliance. All patients’ wounds healed clinically without skin traction complications and formed linear or flaky scars.ConclusionThe self-made chronic wound closure device is effective in repairing complex scarred wounds of lower extremities, and it is easy to operate.
ObjectiveTo evaluate the treatment results of Ilizarov microcirculation reconstruction technique for chronic wounds in the post-traumatic ischemia limbs.MethodsBetween January 2016 and July 2019, 7 cases of chronic wounds in the post-traumatic ischemia limbs were treated. There were 5 males and 2 females, with an average age of 42.4 years (range, 29-66 years). The duration of the wound ranged from 1 month to 2 years (mean, 7.7 months). The wounds located in the leg (3 cases) or in the foot and ankle (4 cases). The wound sizes ranged from 4.0 cm×2.2 cm to 12.0 cm×7.1 cm. There were 1 case of tibial varus, 3 cases of equinovarus, 1 case of scleroderma, and 2 cases of Volkmann’s ischemic contracture. After debridement, external fixators were used for tibial transverse transport, or correction of tibial varus and correction of equinovarus.ResultsAll patients were followed up 8-20 months, with an average of 13 months. The infection of wound surface was all controlled in 7 cases and the granulation tissue grew well; the wound surface healed directly in 5 cases and healed after skin grafting in 2 cases, and the wound healing time was 1-3 months (mean, 1.7 months). During the follow-up, there was no recurrence of the wound. Six cases of limb deformity were corrected.ConclusionFor the chronic wounds in the post-traumatic ischemia limbs, Ilizarov microcirculation reconstruction technique can effectively improve local circulation and facilitate the fresh granule growth and wound healing.
The precise localization of pulmonary nodules has become an important technical key point in the treatment of pulmonary nodules by thoracoscopic surgery, which is a guarantee for safe margin and avoiding removal of too much normal lung parenchyma. With the development of medical technology and equipment, the methods of locating pulmonary nodules are also becoming less trauma and convenience. There are currently a number of methods applied to the preoperative or intraoperative localization of pulmonary nodules, including preoperative percutaneous puncture localization, preoperative transbronchial localization, intraoperative palpation localization, intraoperative ultrasound localization, and localization according to anatomy. The most appropriate localization method should be selected according to the location of the nodule, available equipment, and surgeon’s experience. According to the published literatures, we have sorted out a variety of different theories and methods of localization of pulmonary nodules in this article, summarizing their advantages and disadvantages for references.
Objective To analyze the drug resistance genes, virulence genes and homologies of carbapenem-resistant Klebsiella pneumoniae (CRKP) colonized and infected patients in surgical intensive care unit based on whole genome sequencing. Methods Whole genome sequencing analysis was performed on CRKP infected strains isolated from the Department of General Surgery Intensive Care Unit and the Department of Liver Surgery Intensive Care Unit of Zhongshan Hospital, Fudan University in March 2021 and CRKP colonized strains isolated from the above departments between January and March 2021. The drug resistance genes, virulence genes and homologies of the strains were analyzed. ResultsA total of 16 CRKP strains were included, including 10 colonized strains and 6 infected strains. Except for the β-lactamase drug resistance gene CTX (16.7% vs. 100.0%, P<0.05), there was no significant difference in the detection rate of other drug resistance genes between CRKP infected strains and colonized strains (P>0.05). The cluster analysis of drug resistance genes of some strains was relatively close. Whole genome sequencing analysis showed that CRKP strains carried a variety of virulence genes, and the detection rates of entB, irp2, iroN, and rmpA genes were 100.0%, 87.5%, 37.5%, and 62.5%, respectively. There was no significant difference in the detection rate of virulence genes between CRKP infected strains and colonized strains (P>0.05). Homology analysis showed that some strains had close homologous relationships, and there was the possibility of cross transmission. Conclusions Some of CRKP infection strains and colonization strains in surgical intensive care unit patients have the risk of cross transmission. In the future, we should strengthen the prevention and control of nosocomial infection to reduce the incidence of infection.