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Clinical data of a child with Traboulsi syndrome diagnosed in Affiliated Haikou Hospital of Xiangya Medical College, Central South University in November 2019 were retrospectively analyzed.A 9-year-old female patient presented with vision loss for 3 years.Ectopic lens and a special facial appearance were the main manifestations.Genetic testing showed a homozygous mutation at the c. 1126C > T site of the ASPH gene in the present case, and finally, Traboulsi syndrome was diagnosed.The clinical manifestation of Traboulsi syndrome is not typical.Mastering the main diagnostic points is helpful to improve the efficacy of clinical diagnosis and treatment.c.1126C>T mutation of the ASPH gene has not been reported in China and abroad.It is a newly discovered mutation that enriches the ASPH gene spectrum.
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The gut-lung axis refers to the internal relationship and interaction between the gastrointestinal tract and the respiratory tract at multiple levels.Studies have found that gut microbiota may be closely related to the occurrence and progression of bronchopulmonary dysplasia(BPD)in preterm infants through the gut-lung axis.Studying the mechanism of the interaction between them will help us to extend new therapeutic targets and directions from the perspective of microecology for BPD infants.This article reviews the correlation between gut microbiota and BPD, and the research progress of the mechanism of the gut-lung axis in premature BPD from the aspects of insulin-like growth factor 1, metabolomics, immune regulation, direct transfer, and nutrition.It provides new research ideas for the prevention and treatment of BPD.
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【Objective】 To explore the causes of occupational exposure, so as to prevent occupational exposure that endangering the physical and mental health of staff in blood centers. 【Methods】 Occupational exposure cases reported from May 1, 2014 to April 30, 2020 by Taizhou Blood Center were classified and analyzed in terms of the exposure mode, body parts, post distribution, seniority of operators and whether the operation was carried out as required. 【Results】 From May 1, 2014 to December 31, 2020, 23 cases of occupational exposure (6.66/100000) occurred in Taizhou Blood Center, and the incidence rate was roughly the same in each year. Among the occupational exposure modes, sharp device puncture, wound exposure and mucosal exposure accounted for 65.2% (15/23), 17.4% (4/23) and 17.4% (4/23), respectively. The exposed sites of body were mainly fingers, followed by eyes and mouth. The incidence of occupational exposure of phlebotomist post accounted for 65.2% (15/23), followed by apheresis platelet collection, component preparation and preliminary screening post [21.7% (5/23), 8.7% (2/23) and 4.3% (1/23), respectively, P<0.05]. The incidence of occupational exposure of new staff rotated within one year was 43.5% (10/23), followed by fixed-point staff within 1-5 years and over 5 years [34.8% (8/23) and 21.7% (5/23), respectively], P<0.05. 56.5% (13/23) of occupational exposure was due to employees′ failure to obey the operate as required. 【Conclusion】 Where there is needle contact there is exposure risk. the newer staff are more likely to suffer occupational exposure, and most exposure are caused by non-compliance with the regulations. The establishment of various preventive measures can effectively reduce the incidence of occupational exposure in blood banks and ensure occupational safety.
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Objective@#To evaluate the prevalence and characteristics of Jackhammer esophagus (JE).@*Methods@#From December 2015 to December 2018, the clinical data of 20 patients with JE in the People's Hospital of Yuhuan were retrospectively analyzed.The clinical data of JE patients with typical symptoms of proton pump inhibitor reactive gastroesophageal reflux disease (GERD) were evaluated.The differences between JE patients with or without GERD or allergic esophagus were analyzed, which including esophagogastroscopy (EGD), dynamic pH impedance monitoring of proton pump inhibitors and proton pump inhibitor tests.@*Results@#Of 20 patients with JE, the average age was (55.86±3.23) years old, and BMI was (26.10±3.21)kg/m2.Among JE patients, 10 cases (50.0%) were GERD positive, 2 cases (10.0%) were acid sensitive esophagus, and 8 cases (40.0%) were GERD negative.There were no statistically significant differences in heartburn (P=0.167), nausea (P=0.250), dysphagia (P=0.714) or non-cardiac chest pain (P=0.906) and their duration (P=0.319) among the three types of patients.It also affected the intake of proton pump inhibitor (P=0.377) and heartburn (P=0.494). The total number of reflux in patients with positive GERD caused by JE proton pump inhibitor was significantly increased (P=0.027).@*Conclusion@#JE has a low prevalence rate in patients with typical symptoms of GERD and proton pump inhibitor treatment response.In this study, only nearly half of the people were diagnosed as GERD positive, which indicates that additional objective tests are needed to stratify JE phenotypes.
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Metabolic bone disease is one of the common complications in preterm neonates,which has important influence on the quality of life,even increases the risk of adulthood osteoporosis. Early diagnosis and therapy are important for the improvement of outcome of preterm neonates. This article reviews the progress of prevention and treatment of metabolic bone disease in preterm neonates.
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Objective To analyze the related factors of relapse of leukemia after transplantation of nonmyeloablative allogeneic hematopoietic stem cells. Methods Among the twenty-nine patients with acute leukemia who received transplantation of nonmyeloablative allogeneic peripheral blood stem cells, relapse of leukemia occurred in 5 patients. The nonmyeloablative protocol included the pretreatment of CD3 monoclonal antibody, cyclosporine A, cyclophosphamide, cytarabine, and fludarabine was added in 3 patients. Results All the 5 patients went through smoothly the hematopoietic suppression stage, and engraftment of the donor cells was successful. Leukemia relapsed in 4 patients with full donor chimerism (full donor chimerism was converted from the mixed chimerism in 2 patients), and relapse occurred in 1 patient with stable mixed chimerism. Except for 1 patient, all of them did not show acute GVHD or chronic GVHD. Second complete remission after double transplant was achieved in one patient, but leakemia relapsed in two months. In other four patients treatment was given up. Conclusion Transplantation of nonmyeloablative allogeneic peripheral blood stem cells is a safe and effective method for the treatment of acute leukemia.
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To explore the risk factors of graft rejection in non-myeloablative transplantation between HLA-identical siblings and to evaluate methods to increase donor cell engraftment, 8 patients with graft rejection were studied . The results showed that the usage of immunosup-pressive agents, low early engraft rate, and the kind of disease being CML were closely related with graft rejectioa For patients with graft rejection, second non-myeloablative transplantation is a useful way.
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Objective To explore the clinical effects of second non-myeloablative stem cell transplantation (NAST). Methods Six cases of malignant hematological diseases receiving second NAST were retrospectively analyzed. Of them, 3 were suffered from transplant rejection after 1st NAST and the remaining 3 were stable mixed chimerism. Results Five of the patients achieved complete donor's chimerism and have been in disease-free-survival for 6～27 months. 1 GVHD occurred in only one of the 6 patients, and no transplant-related death happened. Conclusion Second NAST is effective for the treatment of patients with transplant rejection,and is also rational choice for those patients with refractory or relapse malignant hematological diseases.
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Objective To practice the prevention and treatment of severe bone marrow form and intestine form of acute radiation sickness complicated by bacteria infection for providing an effective method on the treatment of acute radiation sickness. Methods Two patients with severe acute radiation sickness suffered from different infection during treatment. Based on their clinical symptoms, image analysis and the findings of microbiological culture, the patients underwent different anti-bacteria and anti-fungi treatment, and the results were evaluated. Result Repeated multiple bacterial infection companied with fungi infection occurred in the two patients with severe acute radiation sickness during the period of treatment. The bacterial infection was controlled temporarily by an intensively antibacterial and antimycotic treatment, but the fungi infection was uncontrolled. In patient A, acute peritonitis occurred 14 days after exposure, and pulmonary infection occurred 19 days after exposure. The pulmonary infection in patient A was controlled by using antibacterial drugs Tienam and Vancocin, while the patient died of multiple organ failure and fungi infection 33 days after exposure. In patient B, pulmonary infection occurred 17 days after exposure, and the septicemia occurred twice with Gram-negative bacteria at 55th day and 71st day after exposure. The pulmonary infection was controlled provisionally by using antibacterial drugs Tienam and Vancocin, while the patient died of multiple organ failure 75 days after exposure. Conclusion The bacterial infection companied with severe acute radiation sickness is phased occurrence. The generalized and phased application of intensive antibiotics might be an effective treatment.