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Objective To summarize and analyze the clinical phenotypes,hereditary features and treatment and follow-up strategies of different hereditary pheochromocytoma/paragangliomas(PCC/PGL)and related syndromes.Methods Forty-four clinically diagnosed PCC/PGL patients admitted in our hospital from January 2000 to August 2022 were enrolled,and the clinical data of them and their family members were collected.Second-generation sequencing was performed on 43 patients for genetic detection,and Sanger sequencing was applied to verify the mutation of the probands and family members.Results There were 15 patients diagnosed with hereditary PCC/PGL,including 7 cases of von Hippel-Lindau(VHL)syndrome,3 cases of multiple endocrine neoplasia type 2(MEN2),and 5 cases of familial paraganglioma syndrome.Seven VHL syndrome families were diagnosed as VHL2A(c.500G＞A),VHL2B(c.239G＞T and c.444_457del),and VHL2C(c.293A＞G)according to their clinical manifestations.All probands received surgical treatment,and 2 cases of recurrent PCC and the patients with multiple renal cancer also received targeted therapy with sunitinib.Three MEN2 families carried c.1901G＞C,c.1832G＞A,and c.1901G＞A missense mutations,respectively,and were diagnosed with MEN2A clinically.All of them underwent adrenalectomy and thyroidectomy,including one for preventive thyroidectomy.Among the 5 familial paraganglioma syndrome families,4 patients carried SDHB mutations(SDHB:c.343C＞T,c.541-2A＞G,c.575G＞A,c.268C＞T)and 1 patient carried an SDHD mutation(SDHD:c.337_340del).Sporadic retroperitoneal PGL were most common.Conclusion More than 1/3 of PCC/PGL patients carry germline gene mutations,showing obvious genotype-phenotype correlation.Genetic diagnosis technology plays an important guidance role for clinical precision treatment and follow-up,and genetic counseling.
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Objective@#The study aims to explore the epidemiological characteristics of tuberculosis among students in Qinghai Province, to provide scientific basis for the prevention and control of students tuberculosis.@*Methods@#Data on tuberculosis among students from 2016 to 2019 in Qinghai province were collected and epidemiological characteristics were analyzed, the spatial distribution map were drawn by using ArcMap 10.8.@*Results@#During 2016-2019, there were 2 691 reported cases of tuberculosis among students in Qinghai Province the reporting rate were 46.10/10 5, 68.50/10 5, 73.49/10 5, 85.96/10 5, increased year by year( χ 2=116.45, P <0.01). With a high incidence from March to September each year. The tuberculosis patients were mainly aged 18 years and above, with more reported female cases than male cases and more Tibetan cases. Most of students tuberculosis cases were reported in southern Qinghai, especially in Yushu and Guoluo areas, and sharp increase was observed in Xining during 2018 to 2019.@*Conclusion@#Students tuberculosis in Qinghai is still serious. Schools should strengthen education on tuberculosis prevention, especially those in southern Qinghai and Xining.
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Objective To study the immune system regulatory effects of CD8+CD28-regulatory T lymphocytes in an experimental bone marrow mesenchymal stem cell treatment of autoimmune encephalomyelitis.Methods A model of autoimmune encephalomyelitis (EAE) was established in twenty-eight C57BL/6 female mice,6 to 8 weeks old weighing 16 to 20 g using myelinoligodendrocyte glycoprotein 35-55 amino acid peptide (MOG35-55).The mice were randomly divided into a phosphate-buffered solution (PBS) group (n =7),an MSCs-Low group [n =7 which received an injection of 2× 105 mesenchymal stem cells (MSCs)],an MSCs-Med group (n=7,1× 106 MSCs),and an MSCs-High group (n=7,5×106 MSCs).Their clinical condition was then evaluated daily.On the 15th day after the MOG35-55 immunization,the different MSC doses were administered intravenously via the tail.On the 30th day the mice were sacrificed to observe any neuropathology of the spinal cord.At the same time,FACS flow cytometry was used to assay CD8+CD28-T cells in the spleen.Results Compared with the PBS control group,the MSC treatment effectively alleviated illness among the mice by the 15th day after the immunization.The maximum and average disease scores and clinical illness scores had all improved significantly.The medium dosage worked best.Neuropathological analysis showed that the MSC treatment could significantly reduce the invasion of inflammatory cells and minimize demyelination in the spinal cord.Furthermore,the CD8+ CD28-regulatory T cells in the spleens of the MSCtreated animals increased compared with the PBS control group,though the secreted levels of IL-10 showed no obvious difference.Conclusions Treatment with MCSs can promote the recovery of neural function in autoimmune encephalomyelitis,at least in mice.CD8+CD28-regulatory T cells may not be the main effector cells,playing only a synergistic therapeutic role.
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Twelve Sprague-Dawley albino rats (24 eyes) were used in this study. Nor- mal saline was injected into the anterior chamber of the experimental eye until the b-wave of the electoretinogram was extinguished, then maintained the critical high intraocular pressure (HIOP) for 90 minutes. Just a puncture, without HIOP, was given to the anterior chamber of the other eye of the same rat as a control Both retinas of the experimental and control eyes were whole-mounted and treated with succinate dehydrogenase (SDH) histochemical technique. The reacted products of SDH showed in either retinal ganglion cells (RGCs) or optic nerve fibers of the experimental eyes were lighter than those of the control eyes under microscope. Furthermore, the grey scale values of the reacted products of SDH on the matched ratinas were measured at corresponding microscopic fields and RGCs with an image analysis system. The differences of the grey scale va- lues between the experimental and control retinas were high statistically signi- ficant (p