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The clinical data of a patient with mitochondrial diabetes mellitus complicated with hypopituitarism were analyzed, the patient′s mitochondrial gene was detected by microarray capture high-throughput sequencing, and the related domestic and foreign literature was reviewed and analyzed. The results showed that the patient had m. 3243 A>G variant on MT-TL1 gene and the clinical features were consistent with mitochondrial diabetes mellitus and hypopituitarism.
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Developing new therapeutic agents for cancer immunotherapy is highly demanding due to the low response ratio of PD-1/PD-L1 blockade in cancer patients. Here, we discovered that the novel immune checkpoint VISTA is highly expressed on a variety of tumor-infiltrating immune cells, especially myeloid derived suppressor cells (MDSCs) and CD8+ T cells. Then, peptide C1 with binding affinity to VISTA was developed by phage displayed bio-panning technique, and its mutant peptide VS3 was obtained by molecular docking based mutation. Peptide VS3 could bind VISTA with high affinity and block its interaction with ligand PSGL-1 under acidic condition, and elicit anti-tumor activity in vivo. The peptide DVS3-Pal was further designed by d-amino acid substitution and fatty acid modification, which exhibited strong proteolytic stability and significant anti-tumor activity through enhancing CD8+ T cell function and decreasing MDSCs infiltration. This is the first study to develop peptides to block VISTA/PSGL-1 interaction, which could act as promising candidates for cancer immunotherapy.
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Objective:To analyze the genetic etiology of idiopathic short stature(ISS) children, and to investigate the clinical characteristics of Noonan syndrome caused by PTPN11 gene mutation, and the response to recombinant human growth hormone(rhGH) as well.Methods:Genomic DNA was extracted from the peripheral blood of 232 ISS patients, and the genome was detected by whole exon sequencing. The gene variation was analyzed according to the guideline of American College of Medical Genetics and Genomics(ACMG), and clinical baseline data and follow-up data of rhGH treatment were collected from PTPN11 gene pathogenic patients.Results:Among 232 ISS patients, 6 were found to have PTPN11 pathogenic gene variants(c.1507G>C, c. 317A>G, c. 923A>G, c. 922A>G, c. 236A>G, c. 922A>G), diagnosed as Noonan syndrome. Together with 3 cases of Noonan syndrome patients(all PTPN11 gene variation C. 1510A>G) previously diagnosed in our hospital, the clinical characteristics of patients were analyzed. Among the 9 Noonan syndrome patients, 7 were boys and 2 were girls. The average age was 10.2(4.5, 14.7) years old, and their height standard deviation score was -3.06 SD(95% CI -2.29 SD--3.94 SD). Among them, 4 patients received rhGH treatment with an average treatment duration of 2.25(1.5, 3.5) years. After treatment, their height increased by 14.3(8.6, 23.9) cm, and the change in height standard deviation score improved by 0.21 SD(95% CI 0.12 SD-0.27 SD). Conclusion:Noonan syndrome has a wide range of clinical phenotypes. For children with short stature, heart defects and cryptorchidism, the possibility of Noonan syndrome should be considered. PTPN11 is the common pathogenic gene for Noonan syndrome, and genetic testing facilitates the early diagnosis, treatment, and follow-up prognosis of Noonan syndrome patients.
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OBJECTIVE@#To investigate the value of hand-held retinal optometer and optical coherence tomography (OCT) in predicting postoperative visual acuity in patients with age-related cataract and idiopathic macular epiretinal membrane.@*METHODS@#We retrospectively analyzed the data of patients undergoing phacoemulsification combined with intraocular lens implantation for age-related cataract in our hospital from January, 2019 to April, 2020.Preoperative examination detected idiopathic macular epiretinal membrane in 45 of the patients (52 eyes) with lens opacity grade C2N2P1 according to LOCSⅡ lens opacity classification criteria.Based on the thickness of the macular fovea, the eyes were divided into group A (9 eyes) with macular thickness 400 μm.The best corrected visual acuity and retinal visual acuity before operation and the best corrected visual acuity on the first day and at 3 months after the surgery were compared among the 3 groups.The consistency between the preoperative retinal vision and the best corrected vision at 3 months after the surgery was analyzed.@*RESULTS@#The best corrected visual acuity at one day and 3 months after the surgery differed significantly from that before the surgery in all the 3 groups (@*CONCLUSIONS@#For patients with cataract and idiopathic macular epiretinal membrane, phacoemulsification combined with intraocular lens implantation can improve postoperative vision.Hand-held retinal optometer can accurately assess postoperative vision in patients with stage C2N2P1 cataract.Patients with a macular thickness >400 μm caused by idiopathic macular epiretinal membrane are likely to have poor postoperative visual outcomes.
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Humans , Cataract/diagnostic imaging , Epiretinal Membrane/surgery , Retrospective Studies , Tomography, Optical Coherence , Visual Acuity , VitrectomyABSTRACT
Objective@#To understand physical exercises and associated factors among college students COVID-19 pandemic, and to provide a reference for promoting physical exercise of college students at home.@*Methods@#A convenient questionnaire survey was used to investigate the physical exercise and associated factors of 1 132 college students in 6 colleges in Beijing.@*Results@#A total of 1 033(91.25%) college students participated in physical exercise; with an average of(3.33±1.99)times per week, the length of each exercise was (39.24±13.23)min, and the subjective sense of exercise intensity was(2.61±0.99). Differences in exercise frequency, duration and intensity differed significantly by gender(P<0.05). Differences in exercise frequency were significantly by grades and places of residence(P<0.05). The exercise items of college students differed by genders and places of residence were statistically significant(P<0.05). Students with different exercise motivations showed significant differences in exercise behaviors(P<0.05). Multivariate Logistic regression analysis showed that grade, lack of interest in exercise, limited venues, incomplete equipment, family sports atmosphere, and school requirements were associated with participation in physical exercise behavior at home(P<0.05).@*Conclusion@#The status of home physical exercise for college students needs to be improved. It is necessary to combine college students exercise motivation and characteristics of exercise items based on school physical education,and to establish a family-school-society network interactive platform to form an effective linkage mechanism to promote college students active participation in physical exercise at home.
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NUT carcinoma is a rare, high lethal cancer which feature as the rearrangement of the nuclear protein in testis (NUT) gene on chromosome 15q14, and its pathogenesis and treatment is not yet clear, the prognosis is poor. Due to NUT carcinoma often occurred on the middle position of the body, such as eyes, nose and palate, mediastinum, so it is also called NUT midline carcinoma (NMC). In this case, we report a 70 years old man who was diagnosed as primary pulmonary NUT carcinoma in the Department of Thoracic Oncology, West China Hospital of Sichuan University. A tumor was found at the left hilus pulmonis when his physical examination without any symptom. Postoperative pathological showed poorly differentiated carcinoma, confirmed by fluorescence in situ hybridization technique for the NUT carcinoma. After operation, chemotherapy, antiangiogenesis therapy, and radiotherapy were given, and he got a long lifetime. Combined with the literature review, we report the clinical and pathological features, and treatment strategies of the rare pulmonary NUT carcinoma case. .
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Objective:To investigate the association between single nucleotide polymorphism (SNP) of eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3) gene in growth hormone deficiency (GHD), and to determine whether the polymorphisms in the EIF2AK3 of children with GHD associate with the efficacy of recombinant human growth hormone (rhGH) therapy.Methods:Five SNPs of EIF2AK3 gene, including rs1805165 (G>T), rs13045 (A>G), rs867529 (C>G), rs11684404 (T>C), rs6547787(T>G) were selected and genotyped by a TaqMan probe method in 104 children with GHD and 269 normal height control children. Among them, 55 children with GHD were treated with rhGH. The height and weight of each patient with GHD after rhGH treatment were collected. Finally, to investigate whether there were differences between the efficacy of rhGH in children with GHD and different genotypes of EIF2AK3 gene polymorphism.Results:(1) The polymorphisms rs13045 and rs867529 of EIF2AK3 gene were associated with the occurrence of GHD ( P<0.05). (2) The haplotypes GACTG and GAGTT composed of SNPs rs1805165, rs13045, rs867529, rs11684404, and rs6547787 of EIF2AK3 gene increased the risk of GHD with OR (95% CI) of 2.05 (1.33-3.17) and 2.62 (1.48-4.65), respectively. The haplotypes GACTT and TGCCG reduced the risk of GHD, with OR (95% CI) of 0.68 (0.48-0.97) and 0.36 (0.23-0.57), respectively. (3) After determination the relationship between different genotypes and efficacy of rhGH with rs13045 and rs867529, it was found that there was no significant difference in height gain between rs13045 genotypes after rhGH treatment ( P>0.05). Compared with CC genotype, there was a less height gain of CG genotype at rs867529 by 0.099 cm for every 30 d( β=-0.099, 95% CI -0.162--0.018, P=0.016). Conclusions:The EIF2AK3 gene polymorphism (rs13045, rs867529) was associated with the occurrence of GHD. The height gain of CG genotype of rs867529 was lower than that of CC genotype in children with GHD treated with rhGH. The EIF2AK3 locus rs867529 genotype was associated with rhGH efficacy.
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The Notch signaling pathway is a highly conserved classical developmental pathway,which plays a critical role in cell-fate decision by modulating proliferation, differentiation and apoptosis. There is increasing evidence that abnormal Notch pathway is correlated with occurrence and development of many tumors. Notch signaling plays dual roles in a wide range of B-cell malignancies. It serves as either an oncogene or a tumor suppressor. Notch signaling pathway may be a novel target for B-cell malignancies therapy.
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Accurate imaging of lymphoma is essential for optimal management. Positron emission tomography(PET-CT),by providing both anatomic and functional information,is fundamentally altering staging,monitoring of response,response assessment,and choice of treatment modality for lymphomas, including Hodgkin lymphoma. This imaging technique, when used carefully in conjunction with standard testing,increases the sensitivity of lesion detection, provides an opportunity to monitor the quality of response during treatment, permits separation of fibronecrotic scartissue from viable tumor, and adds prognostic information.PET-CT has become integral to modern lymphoma management, but as a relatively new diagnostic technique,it is still being studied and neither its full potential nor its major limitations are fully understood. Discussed herein are recent observations from clinical trials and single-center experiences with PET-CT to explore its advantages and limitations from a clinician’ s point of view.
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Experimental course of pathology is a very important part of pathology teaching.Motivation of students was promoted through improving the professional knowledge of teachers,using teacher-student interacted teaching methods,increasing network courscs,using multimedia in teaching and adding extracurricular practice in our university.In the meantime,it was successful and fruitful to use diversified evaluation systems to assess the comprehensive experimental capacity of students,which can provide experiences in reform of pathological experimental teaching.
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Objective To investigate the clinical value of thinprep cytology test(TCT) combined with colposcopy in diagnosis of cervical lesion. Methods Retrospective analysis was conducted in 174 females with abnormal cervical smear. All the patients underwent colposcopy to screen the cervical lesions. According to the pathological results,the clinical value of TCT and colposcopy was analyzed and compared. Results In the 174 cases with abnormal cervical smear,the positive rate of atypical squamous cells(ASC) was 27. 0% (47/174). There were 92 low grade squamous intraepithelial lesion (LSIL) (52. 9%) ,33 high grade squamous intraepithelial lesion (HSIL) (19. 0%) and 2 squamous cell cancinoma (SCC) (1. 1%) . According to the diagnosis by biopsy and pathology,the positive rate of benign cervical cell(BCC) was 16. 1% (28/174) .cervical intraepithelial neoplnsia (CIN) I 42. 0% (73/174), CIN II 18.4% (32/174), CIN ffl 21. 8% (38/174) and SCC 1. 7% (3/174) . The coincidence rate of TCT and pathology was 83. 9% (146/174). Conclusions TCT and colposcopy are a practical approach for detecting cervical lesion. TCT combined with colposcopy is the optimal screening approach for cervical lesion, which can enhance the sensitivity and specificity of the diagnosis of cervical lesions.
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ay of the anatomical features of the SN and clinical diagnosis of diseases related to the nerve.
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Objective To observe clinical effect of treating pelvic effusion with twenty five tastes podophyllum pill combined with antibiotics, microwave. Methods 182 cases patients with inflammatory pelvic effusion were randomly divided into two groups. The treatment group was treated with twenty five tastes podophyllum pill combined with antibiotics、microwave, and the control group was treated with antibiotics combined with microwave. The absorption, symptoms disappeared and cure situations of pelvic effusion were observed between control group and treatment group after treatment.Results The complete absorption, symptoms disappeared and cure situations of pelvic effusion in the treatment group was significantly higher than that of the control. The total effective rate of the treatment group was 100%, and the total effective rate of the control group was 87.5%, which has a significant difference (P<0.05) .Conclusion The treatment of twenty five tastes podophyllum pill combined with antibiotics, microwave on pelvic effusion is better than western medicine.