الملخص
Objective·To compare the prognostic effects of radical resection of esophageal cancer,concurrent chemoradiotherapy and simple follow-up observation on the prognosis of patients with T1b invasion of superficial esophageal squamous cell carcinoma after endoscopic submucosal dissection(ESD).Methods·From May 2016 to May 2021,the clinical data of 67 patients with esophageal squamous cell carcinoma who were pathologically confirmed as pT1b after ESD and treated in Shanghai Chest Hospital were retrospectively analyzed.According to the additional treatment after ESD,the patients were divided into additional surgery group(S group),chemoradio-therapy group(CRT group)and observation group(O group).χ2 test was used to compare the clinical baseline data and pathological information of the three groups of patients.The Kaplan-Meier survival curve and log-rank test were used to compare the disease free survival(DFS)and recurrence free survival(RFS)of the three groups of patients,and the Cox proportional hazards regression model was used on DFS and RFS by univariate and multivariate analysis.Results·Among all 67 patients,there were 23 cases in the S group,19 cases in the CRT group,and 25 cases in the O group.There was no significant difference in age(P=0.080),gender(P=0.078),tumor length(P=0.485),tumor location(P=0.655),lesion circumferential ratio(P= 0.310),histological grading(P=0.084),depth of tumor invasion(P=0.066)and lymphovascular invasion(P=0.279)among the three groups.During(42.6±16.7)months of follow-up,tumor recurrence was observed in 10 cases(14.9%),including 6 patients(60%)with local recurrence,2 patients(20%)with regional lymph recurrence and 2 patients(20%)with distant metastasis.The median recurrence time of group S,group CRT,and group O was 40.1,36.6,and 22.1 months,and the 3-year DFSs were 100%,89.5%,and 74.5%(P-trend=0.040).Multivariate Cox analysis showed that additional esophagectomy was the key to improving independent protective factors of RFS(HR=0.097,95%CI 0.010?0.956,P=0.046).Conclusion·For patients with superficial esophageal squamous cell carcinoma confirmed as pT1b after ESD,additional surgery can significantly reduce the possibility of long-term recurrence.
الملخص
AIM: To explore the variance in efficacy between botulinum toxin A(BTA)injection and extraocular muscle surgery in managing large-angle(≥+60 PD)acute acquired concomitant esotropia(AACE).METHODS: A retrospective analysis was conducted on clinical data of 60 patients with AACE treated at our hospital from June 2020 to December 2022. Patients were divided into three groups based on different treatments: 2.5 IU BTA injection group(14 cases), 5.0 IU BTA injection group(29 cases), and surgical group(17 cases). Follow-up was conducted for 6 mo after treatment to observe the degree of strabismus after the correction of refractive error, visual function, treatment effectiveness, and occurrence of complications after BTA injection.RESULTS: At 6 mo post-treatment, the degree of strabismus in the surgical group and the 5.0 IU BTA injection group was lower than that in the 2.5 IU BTA injection group(P<0.017). However, there was no significant difference in the degree of strabismus between the surgical group and the 5.0 IU BTA injection group(P>0.017). The effective rate of the 5.0 IU BTA injection group was higher than that of the 2.5 IU BTA injection group(86% vs 43%, P<0.017). There was no difference in visual function among the three groups(P>0.05). The incidence of complications after treatment was not significantly different between the 2.5 IU BTA injection group and the 5.0 IU BTA injection group(43% vs 52%, P>0.05).CONCLUSION: For AACE patients with esotropia degree ≥+60 PD, bilateral medial rectus injection of 5.0 IU BTA can yield outcomes comparable to traditional extraocular muscle surgery, with the advantages of minimal trauma and simple and convenient operation.
الملخص
【Objective】 To compare the degree, efficacy and safety of testicular catch-up growth after inguinal and subinguinal surgery for adolescent varicocele. 【Methods】 Clinical data of 121 adolescent varicocele patients with secondary testicular atrophy treated during Sep.2014 and Jun.2021 at Huili People’s Hospital were retrospectively analyzed, including 40 cases treated with the inguinal incision approach, and 81 with the subinguinal approach. The characteristics of intraoperative, efficacy, surgical complications and prognosis were compared between the two groups. 【Results】 The inguinal group had significantly shorter microscope usage time (P=0.006), fewer number of preserved internal spermatic arteries (P0.05). Two years after surgery, the bilateral testicular volume of both groups was significantly larger than that before surgery (P0.05). 【Conclusion】 In the treatment of adolescent varicocele patients with secondary testicular atrophy, the subinguinal approach significantly reduces the difficulty of microsurgical varicocele ligation, and has good efficacy and safety, which is worthy of clinical promotion and application.
الملخص
Objective:To explore the clinical significance of negative fluid balance and infection management in the treatment of acute respiratory distress syndrome (ARDS) caused by severe novel coronavirus infection.Methods:A retrospective survey was conducted. Patients with ARDS caused by severe novel coronavirus infection who were hospitalized in the department of critical care medicine of the Third Affiliated Hospital of Gansu University of Chinese Medicine and received non-invasive ventilator assisted ventilation were selected as the research objects. The fluid intake and output of all patients were accurately counted every day, and the fluid intake of the next day was adjusted according to the output of the previous day. According to the fluid negative balance, and whether the hospital infection management measures were complied with during the treatment and inspection of the patients, 45 patients with a negative fluid balance of more than 200 mL/d and strict management of nosocomial infection were taken as the observation group, and 48 patients with a negative fluid balance of less than 200 mL/d and no strict management of nosocomial infection were taken as the control group. The general data, weaning success rate, endotracheal intubation rate, mortality, as well as laboratory indicators such as white blood cell count (WBC), procalcitonin (PCT), C-reactive protein (CRP) after treatment were compared between the two groups.Results:There were no significant differences in gender (male: 51.1% vs. 52.1%), age (years old: 66.31±15.92 vs. 67.50±13.59), acute physiology and chronic health evalution Ⅱ (APACHEⅡ: 18.98±4.81 vs. 18.54±4.35) between the observation group and the control group (all P > 0.05), indicating that the baseline data were balanced and comparable. Compared with the control group, the weaning success rate of the observation group significantly increased [53.3% (24/45) vs. 31.2% (15/48), P = 0.031], endotracheal intubation rate significantly decreased [22.2% (10/45) vs. 43.8% (21/48), P = 0.028], mortality significantly reduced [20.0% (9/45) vs. 41.7% (20/48), P = 0.024], laboratory indicators WBC, PCT and CRP levels were significantly reduced [WBC (×10 9/L): 8.085±4.136 vs. 16.898±7.733, CRP (mg/L): 82.827±52.680 vs. 150.679±74.625, PCT (μg/L): 3.142±2.323 vs. 7.539±5.939, all P < 0.01]. Conclusion:Fluid negative balance and infection management have significant clinical significance in the treatment of severe novel coronavirus infection with ARDS.
الملخص
Objective To observe the effects of acupuncture on spatial learning and memory ability,gut flora composition,intracerebral lipopolysaccharide content,and blood-brain barrier permeability in APP/PS1 mice.To explore the intrinsic mechanism of acupuncture in the treatment of Alzheimer′s disease.Methods 24 APP/PS1 mice were randomly divided into the model group,acupuncture group,and probiotic group,and 8 C57BL/6 mice of the same background were used as the normal control group.In the acupuncture group,acupuncture points were taken from"Baihui","YinTang",and"Zusanli"for 20 min.In the probiotic group,probiotics were given by gavage.The model group and normal control group received only restraint.The above interventions were performed once a day for 45 days.After 45 days of intervention,the feces of mice in each group were taken for 16s RNA,and spatial learning and memory skills in each group were observed by the Morris water maze test.The Lipopolysaccharide(LPS)in the brain was detected by immunofluorescence.The blood-brain barrier(BBB)structure was observed by transmission electron microscopy.Results Compared to the model group,Acupuncture improved the spatial learning and memory ability of APP/PS1 mice(P<0.05).It regulated species diversity and composition of APP/PS1 mice,and LPS was significantly decreased(P<0.05).Conclusion Acupuncture significantly improved spatial learning and memory in APP/PS1 mice,modulated BBB tight junction structure,and reduced hippocampal neuronal degeneration,and the effects were consistent with probiotics.The intrinsic mechanism of action is probably achieved by regulating intestinal flora and reducing LPS load.
الملخص
Objective To investigate the effect and mechanism of sodium cantharidate on the proliferation,migration and invasion of esophageal carcinoma EC9706 cells.Methods Esophageal cancer EC9706 cells were randomly divided into blank control group,low-dose sodium cantharidate group,medium-dose sodium cantharidate group,high-dose sodium canthari-date group and cisplatin group.The EC9706 cells in the low-,medium-and high-dose sodium cantharidate groups were given fi-nal mass concentration of 1.0,2.5 and 5.0 mg·L-1 sodium cantharidate intervention,respectively.The EC9706 cells in the cisplatin group were treated with the final mass concentration of 140 mg·L-1 cisplatin,and the cells in the control group was cultured in Dulbecco's modified Eagle's medium.The cell proliferation rate in each group was detected by cell counting reagent-8 method,the mobility of EC9706 cells in each group was detected by scratch test,the invasion rate of EC9706 cells in each group was detected by Transwell method,and the levels of Wnt3a and β-catenin mRNA in EC9706 cells in each group were detected by real-time quantitative polymerase chain reaction method,and the levels of Wnt3a and β-catenin protein in EC9706 cells in each group were detected by Western blot.Results At 24,48 and 72 h of cultivation,the proliferation rate of EC9706 cells in the low-dose sodium cantharidate group,medium-dose sodium cantharidate group,high-dose sodium canthari-date group and cisplatin group was significantly lower than that in the blank control group(P＜0.05);the proliferation rate of EC9706 cells in the low-dose sodium cantharidate group and medium-dose of sodium cantharidate group was significantly higher than that in the high-dose sodium cantharidate group and cisplatin group(P＜0.05);the proliferation rate of EC9706 cells in the low-dose sodium cantharidate group was significantly higher than that in the medium-dose sodium cantharidate group(P＜0.05);there was no significant difference in the proliferation rate of EC9706 cells between the high-dose sodium cantharidate group and cisplatin group(P＞0.05);the proliferation rate of EC9706 cells in the low-dose sodium cantharidate group,medium-dose sodium cantharidate group,high-dose sodium cantharidate group and cisplatin group was significantly decreased with the extension of culture time(P＜0.05).The mobility rate and invasion rate of EC9706 cells in the low-dose sodium cantharidate group,medium-dose sodium cantharidate group,high-dose sodium cantharidate group and cisplatin group were significantly lower than those in the blank control group(P＜0.05);the mobility rate and invasion rate of EC9706 cells in the low-dose sodium cantharidate group and medium-dose sodium cantharidate group were significantly higher than those in the high-dose sodium cantharidate group and cisplatin group(P＜0.05);the migration rate and invasion rate of EC9706 cells in the low-dose sodium cantharidate group were significantly higher than those in the medium-dose sodium cantharidate group(P＜0.05);there was no significant difference in the mobility rate and invasion rate of EC9706 cells between the high-dose sodium cantharidate group and cisplatin group(P＞0.05).The relative expression levels of Wnt3a and β-catenin mRNA and protein in EC9706 cells in the low-dose sodium cantharidate group,medium-dose sodium cantharidate group,high-dose sodium cantharidate group and cisplatin group were significantly lower than those in the blank control group(P＜0.05);the relative expression levels of Wnt3a and β-catenin mRNA and protein in EC9706 cells in the low-dose sodium cantharidate group and medium-dose sodium cantharidate group were significantly higher than those in the high-dose sodium cantharidate group and cisplatin group(P＜0.05);the relative expressions levels of Wnt3a and β-catenin mRNA and protein in EC9706 cells in the low-dose sodium cantharidate group were significantly higher than those in the medium-dose sodium cantharidate group(P＜0.05);there was no significant difference in the relative expression levels of Wnt3a and β-catenin mRNA and protein in EC9706 cells between the high-dose sodium cantharidate group and cisplatin group(P＞0.05).Conclusion Sodium cantharidate can significantly inhibit the proliferation,migration and invasion of esophageal carcinoma EC9706 cells,and its mechanism may be related to the inhibition of the Wnt3a/β-catenin pathway.
الملخص
Polyhydroxyalkanoate depolymerase (PHAD) can be used for the degradation and recovery of polyhydroxyalkanoate (PHA). In order to develop a PHAD with good stability under high temperature, PHAD from Thermomonospora umbrina (TumPHAD) was heterelogously expressed in Escherichia coli BL21(DE3). At the same time, a mutant A190C/V240C with enhanced stability was obtained via rational design of disulfide bonds. Characterization of enzymatic properties showed that the mutant A190C/V240C had an optimum temperature of 60 ℃, which was 20 ℃ higher than that of the wild type. The half-life at 50 ℃ was 7 hours, at 50 ℃ which was 21 times longer than that of the wild type. The mutant A190C/V240C was used for the degradation of polyhydroxybutyrate (PHB), one of the typical PHA. At 50 ℃, the degradation rate of PHB being treated for 2 hours and 12 hours was 2.1 times and 3.8 times higher than that of the wild type, respectively. The TumPHAD mutant A190C/V240C obtained in this study shows tolerance to high temperature resistance, good thermal stability and strong PHB degradation ability, which may facilitate the degradation and recovery of PHB.
الموضوعات
Thermomonospora , Actinomycetales , Escherichia coli/genetics , Polyhydroxyalkanoatesالملخص
Objective:To explore the effect of intermittent angle traction on the supine position combined with acupoint application on the changes of cervical radiculopathy related biological parameters.Methods:Randomized controlled trial. A total of 100 patients with radiculopathy cervical spondylosis treated in the Second Affiliated Hospital of Heilongjiang University of Traditional Chinese Medicine from February 2019 to February 2021 were selected and randomly divided into observation group ( n=50) and control group ( n=50). Patients in the control group were given conventional treatment with western medicine, and patients in the observation group were given acupoint application combined with supine intermittent angle traction combined with treatment. Both groups were treated for 3 months. The Japanese Orthopaedic Association Spinal Cord Function (JOA), Cervical Disability Index (NDI), Pain Visual Analogue Score (VAS) and the changes in intervertebral foramen volume of two groups were compared before and after treatment. The difference in clinical efficacy between the two groups after treatment was observed. We took a thin spiral CT film of the patient's cervical spine, established a three-dimensional finite element model of the cervical spine, and compared the differences in related indicators between the two groups before and after treatment. Results:The total effective rate was 94.0% (47/50) in the observation group and 70.0% (35/50) in the control group, and there was a significant difference between the two groups ( χ2=9.76, P=0.002). After treatment, the JOA score in the observation group was significantly higher than that of the control group ( t=6.23, P<0.01), the NDI score, VAS score were significantly lower than those in the control group ( t values were 5.17,9.13, P<0.01), the intervertebral foraminal volume [(8.45±1.27)mm 3vs. (7.18±1.38)mm 3, t=4.79] was significantly higher than that of the control group ( P<0.01), and C 4-7 cervical vertebra flexion [(7.15±0.87)° vs.(5.64±0.78)°, t=9.14], retroflexion [(8.53±0.73)° vs. (7.15±0.68)°, t=9.78], sidebend [(6.57±0.71)° vs. (5.28±0.67)°, t=9.34], rotated [(7.89±0.52)° vs. (6.54±0.48)°, t=13.49] were significantly higher than those in the control group ( P<0.01); C 4-7 disc flexion [(1.41±0.09) kPa vs. (2.01±0.12) kPa, t=28.28], retroflexion [(1.54±0.07) kPa vs. (2.01±0.08) kPa, t=31.26], sidebend [(1.24±0.07) kPa vs. (1.89±0.13) kPa, t=31.13], rotated [(1.23±0.06)kPa vs. (1.85±0.11)kPa, t=34.99] were significantly lower than those in the control group ( P<0.01). Conclusion:The supine intermittent Angle traction combined with acupoint application in the treatment of cervical spondylotic radiculopathy can relieve the neck pain, improve the neck function, restore the physiological curvature of the cervical spine, and promote the recovery of cervical biomechanics.
الملخص
Increasing evidences suggest the important role of calcium homeostasis in hallmarks of cancer, but its function and regulatory network in metastasis remain unclear. A comprehensive investigation of key regulators in cancer metastasis is urgently needed. Transcriptome sequencing (RNA-seq) of primary esophageal squamous cell carcinoma (ESCC) and matched metastatic tissues and a series of gain/loss-of-function experiments identified potassium channel tetramerization domain containing 4 (KCTD4) as a driver of cancer metastasis. KCTD4 expression was found upregulated in metastatic ESCC. High KCTD4 expression is associated with poor prognosis in patients with ESCC and contributes to cancer metastasis in vitro and in vivo. Mechanistically, KCTD4 binds to CLIC1 and disrupts its dimerization, thus increasing intracellular Ca2+ level to enhance NFATc1-dependent fibronectin transcription. KCTD4-induced fibronectin secretion activates fibroblasts in a paracrine manner, which in turn promotes cancer cell invasion via MMP24 signaling as positive feedback. Furthermore, a lead compound K279-0738 significantly suppresses cancer metastasis by targeting the KCTD4‒CLIC1 interaction, providing a potential therapeutic strategy. Taken together, our study not only uncovers KCTD4 as a regulator of calcium homeostasis, but also reveals KCTD4/CLIC1-Ca2+-NFATc1-fibronectin signaling as a novel mechanism of cancer metastasis. These findings validate KCTD4 as a potential prognostic biomarker and therapeutic target for ESCC.
الملخص
The current primary treatment of cervical esophageal cancer is still the definitive chemoradiotherapy. Salvage esophagectomy is recommended for patients who have failed the therapy. Cervical esophageal cancer is closely adjacent to the surrounding important organs, and the boundaries of regional tissues become more blurred after radiotherapy, which pose a great challenge to surgical treatment. Successful completion of this operation requires a comprehensive grasp of various surgical techniques such as total larynx, pharynx, esophagus, partial tracheal resection and respective reconstruction. The author introduces several core issues of this operation, such as tumor resection, digestive tract reconstruction, airway reconstruction, and lymph node dissection, in order to provide references for domestic colleagues, improve the success rate of surgery, and reduce the occurrence of fatal complications.
الملخص
@#Resection is one of the most important treatments for esophageal squamous cell carcinoma, and routine postoperative follow-up is an effective method for early detection and treatment of recurrent metastases, which can improve patients' quality of life and prognosis. This consensus aims to provide a reference for colleagues responsible for postoperative follow-up of esophageal squamous cell carcinoma patients in China, and further improve the standardization of the diagnosis and treatment of esophageal squamous cell carcinoma.
الملخص
Objective: In this study, black tea and Citrus maxima (BT-CM), yellow tea and C. maxima (YT-CM), green tea and C. maxima (GT-CM) as subjects, the active ingredient content and antioxidant activity of three tea and C. maxima (T-CM) were analyzed. The effects of three T-CMs on apoptosis of liver cells in vitro and its mechanism were further explored. Methods: National standard method and HPLC were used for active ingredient analysis. MTT, cell flow cytometry and Western blot were used to analyze the effects of three T-CMs on cell proliferation, apoptosis, and its underlying molecular mechanism. Results: The content of tea polyphenols, free amino acids, ratio of polyphenols and amino acids, ester catechins, non-ester catechins and caffeine in YT-CM and GT-CM was significantly higher than that of BT-CM. The in vitro antioxidant capacity of YT-CM and GT-CM was also significantly stronger than that of BT-CM. Three T-CMs had the effects of inhibiting proliferation, arresting cell cycle and inducing apoptosis in HepG2 and Bel7402 cells, especially YT-CM and GT-CM. Western blot analysis showed three T-CMs activated PI3K/AKT/mTOR signaling pathway and regulated the expression levels of apoptosis-related proteins Bax, Bcl-2 and Caspase-3/9. YT-CM and GT-CM had better ability to change the signal pathway than BT-CM. Conclusion: In short, T-CMs, which combined different degrees of fermentation tea with C. maxima, were rich in nutrients and biologically active substances. T-CMs, especially YT-CM and GT-CM, are healthy drinks that help to prevent and treat liver cancer.
الملخص
Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is a highly stimulated and defective inflammatory response caused by genetic inheritance or acquired immune regulation abnormalities.Lymphoma-associated hemophagocytic syndrome (LAHS) is a malignancy-associated HLH secondary to lymphoma, with a high clinical misdiagnosis rate and fatality rate and poor prognosis.In this article, the pathogenesis, diagnosis and treatment of LAHS in children were reviewed, in order to increase clinician′s understanding of the disease.
الملخص
Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is a highly stimulated and defective inflammatory response caused by genetic inheritance or acquired immune regulation abnormalities.Lymphoma-associated hemophagocytic syndrome (LAHS) is a malignancy-associated HLH secondary to lymphoma, with a high clinical misdiagnosis rate and fatality rate and poor prognosis.In this article, the pathogenesis, diagnosis and treatment of LAHS in children were reviewed, in order to increase clinician′s understanding of the disease.
الملخص
In the era of multidisciplinary treatment of esophageal cancer, especially the development of immunotherapy, the aim of organ-sparing treatment is to improve quality of life without reducing survival. After neoadjuvant therapy, the common efficacy evaluation methods are endoscopic biopsy and imaging examination, which may help patients with complete response obtaining organ-sparing treatment. Liquid biopsy technology represented by circulating tumor cells is a novel evaluation method, which will be used in multimodality evaluation to guide clinical decision making in the future. For organ-sparing treatment, it should consider the period of surgical window and optimization of combined treatment (chemotherapy regimens and radiation doses, etc.) to achieve a higher pathologic complete response rate. In the era of immunotherapy, it is necessary to explore effectively predictive biomarkers to identify patients who are suitable for organ-sparing treatment, and individualize the best combination therapy for different patients. At the same time, strengthening the intensity of consolidation therapy is also an important role for immunotherapy in organ-sparing treatment. Active surveillance is required to detect recurrence and implement salvage therapy for patients who received organ-sparing treatment. It is expected that the organ-sparing treatment of esophageal cancer could be developed under the new era of immunotherapy.
الملخص
Cell migration is defined as the directional movement of cells toward a specific chemical concentration gradient, which plays a crucial role in embryo development, wound healing and tumor metastasis. However, current research methods showed low flux and are only suitable for single-factor assessment, and it was difficult to comprehensively consider the effects of other parameters such as different concentration gradients on cell migration behavior. In this paper, a four-channel microfluidic chip was designed. Its characteristics were as follows: it relied on laminar flow and diffusion mechanisms to establish and maintain a concentration gradient; it was suitable for observation of cell migration in different concentration gradient environment under a single microscope field; four cell isolation zones (20 μm width) were integrated into the microfluidic device to calibrate the initial cell position, which ensured the accuracy of the experimental results. In particular, we used COMSOL Multiphysics software to simulate the structure of the chip, which demonstrated the necessity of designing S-shaped microchannel and horizontal pressure balance channel to maintain concentration gradient. Finally, neutrophils were incubated with advanced glycation end products (AGEs, 0, 0.2, 0.5, 1.0 μmol·L -1), which were closely related to diabetes mellitus and its complications. The migration behavior of incubated neutrophils was studied in the 100 nmol·L -1 of chemokine (N-formylmethionyl-leucyl-phenyl-alanine) concentration gradient. The results prove the reliability and practicability of the microfluidic chip.
الموضوعات
Cell Movement , Chemotaxis , Equipment Design , Lab-On-A-Chip Devices , Microfluidic Analytical Techniques , Microfluidics , Neutrophils , Reproducibility of Resultsالملخص
Langerhans cell histiocytosis(LCH)and Langerhans cell sarcoma(LCS)are characterized by clone proliferation of Langerhans-type cells, which may occur concurrently or sequentially with T-cell acute lymphoblastic leukemia (T-ALL) and other Lymphoid neoplasms. A 15-year old female patient diagnosed with T-ALL developed LCH involving multiple systems during maintenance chemotherapy of T-AL. After treated with chemotherapy with improved result, the patient showed progression of the illness and refractory to the second-line treatment. We found c.G35A (p.G12D)mutation in the KRAS gene and used the targeted drug Trametinib for treatment. The treatment proved effective, leading to partial remission within a week. Three months after Trametinib treatment, the patient developed new lymphadenopathy. Biopsy revealed the existence of LCS. The disease progressed quickly, and the patient died 7 days after diagnosis of LCS. The case of patients with T-ALL then developing LCH and LCS sequentially is extraordinarily rare. The causes of the case is unclear and may be related to cell transdifferentiation, clonal evolution, and chemotherapy. Targeted drugs can contain this disease for a short time.
الملخص
Neuroblastoma-amplified sequence (NBAS) is a highly conserved gene firstly found in neuroblastoma, targeting on the human chromosome 2 p24.3 and encodes a protein that is a subunit of the Syntaxin 18 complex. The functions of NBAS include the involvement in transport of Golgi-to-Endoplasmic Reticulum retrograde and degradation of nonsense-mediated mRNA. NBAS gene is widely expressed in more than 30 tissues, suggesting that it may play an important role in human body. In 2010 and 2015, NBAS was identified successively as the pathogenic gene of SOPH syndrome and fever-related liver failure respectively. Recent studies shows that NBAS gene mutations can involve immune system and cause immune deficiency. In this paper, we review the biological function of NBAS, NBAS gene mutation-related diseases and their pathogenesis in recent years.
الملخص
Natural killer group 2 member D(NKG2D) is an immune receptor expressed by NK cells that recognizes the human major histocompatibility complex class I polypetide-related chain(MIC) A/B on the cell surface.The interaction between NKG2D and MICA/B plays an important role in the immunosurveillance of viruses infection and cancers.In this article, we review the research progress of the MICB/NKG2D signaling pathway in immune escape including three parts: down-regulation of membrane-bound MICB, increase of secretory MICB, and polymorphism of MICB genes.
الملخص
Objective:To understand the clinical characteristics and prognosis of Langerhans cell histiocytosis (LCH) with skin-limited lesion.Methods:A retrospective analysis was performed on clinical characteristics and prognosis of 16 skin-limited LCH patients, out of 578 LCH patients who were hospitalized in Beijing Children′s Hospital during December 2013 to June 2018.Results:A total of 16 skin-limited LCH cases, accounted for 2.7% of all 578 cases, were included.Among which, sex ratio (male vs.female) was 1.28∶1.00.Median ages of skin eruption occurrence and of diagnosis of the disease were 3.5 months (3 days to 2 years and 5 months) and 6 months (2 months 14 days to 2 years and 8 months) in this group.Among the 16 cases, seborrheic dermatitis-like lesions(11 cases, 68.7%) was the most common, and the trunk was most frequently involved[75.0% (12 cases)]. Serine/threonine protein kinase gene V600E [ BRAF (p.V600E)] mutation was detected in pathological specimens from 10 skin-limi-ted cases, with 9 cases being positive.Plasma samples from 5 positive cases were further detected for BRAF (p.V600E) mutation, and 4 positive results were gained.Of all 16 patients, 11 cases (68.7%) were treated.Remission were achieved in 3-6 months from treatment start in patients treated whether according to the Histiocyte Society′s LCH-2009 protocol for 25 weeks(6 cases, 37.5%), or with topical mometasonefuroate for 3 months (3 cases, 18.8%). Two patients(12.5%) with solitary cutaneous lesions underwent excision biopsy (one face and one prepuce) and were considered to be in remission immediately after surgery.None of these patients suffered from the recurrence of the disease.The remaining 5 patients (31.3%) with skin-limited LCH were just evaluated regularly, and achieved remission in 3-6 months of commencing observation.Among these untreated patients, 1 with consistently positive BRAF (p.V600E) mutation in plasma had bone involvement in the 24 th month of assessment, and was then treated based on the Histiocyte Society′s LCH-2009 Protocol.No clinical or imageological evidence supporting disease progression was found on this patient.Median follow-up period was 32.8 months (2.9-63.9 months). Except one patient, none of the rest cases had active disease till follow-up ended.Two-year event free survival(EFS) of this research was (92.3± 7.4)%.There was no significant difference between EFS of treated group and that of observation group( χ2=1.250, P=0.264). Conclusions:Skin-limited LCH often occurs in infants and newborns, with strong heterogeneity in clinical manifestations, laboratory indicators, and pathogenesis.Seborrheic dermatitis-like lesions were the most common cutaneous type.The prognosis of the patients is excellent despite progressing into multisystem involvement can be seen in a few patients.