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Objective To analyze the clinical manifestations and gene mutations of rare causes of primary adrenal insufficiency (PAI) in childhood.Methods The clinical features,laboratory tests and gene mutation of 13 patients with PAI in our hospital from September 2010 to August 2017 were analyzed retrospectively.Patients with congenital adrenal hyperplasia,X-linked adrenoleukodystrophy with neurological onset or a clear family history,and autoimmune adrenal insufficiency were excluded.Results The median age of 13 cases (12 males,1 female) was 3 years and 10 months.Medical history or clinical manifestations on the first visit included hyperpigmentation,electrolyte imbalance/salt-wasting crisis,gastrointestinal symptoms,and fatigue,etc.All developments of external genitalia were normal.All cases presented with decreased serum cortisol and increased ACTH levels.Some of the cases showed decreased aldosterone level and plasma renin activity,while 17α-hydroxyprogesterone,testosterone,and androstenedione were in the normal range.Part of cases revealed delayed bone age and adrenal atrophy.Three gene mutations were detected in 13 patients,including NR0B 1 gene (9/13),ABCD 1 gene (3/13),and CYP 11A 1 gene (1/13).NR0B1,and ABCD1 gene mutations were pathogenic mutations,consistent with clinical characteristics.CYP11A1 gene mutation was heterozygote,which cannot fully explain the clinical features.Conclusion PAI in childhood presents common clinical manifestations of adrenal insufficiency,e.g.hyperpigmentation and electrolyte imbalance/sah-wasting crisis,but without specificity.Gene mutational analysis is necessary for precise diagnosis and prognosis estimation.NR0B1 and ABCD1 gene mutations were common in childhood with rare causes of PAI.
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Objective To investigate the impact of transplantation of human amniotic mesenchymal stem cells(hAMSCs)on the histopathological change in paraquat-induced pulmonary fibrosis in rats. Methods Forty-six female SD rats were randomly divided into the sham surgery group and the hAMSCs transplant group. Pulmonary fibrosis model was induced by 2％ of paraquat intragastric administration(100 mg/kg/rat). hAMSCs were injected through caudal vein(2 × 106 cells/mL/rat). The histopathological changes were observed through microscopy after HE and the immunohistochemical staining. Results General conditions in rats received hAMSCs transplantation were better than those of the model rats. More large area and white fibrosis nidus were observed in bilateral lung of model rats,with less dispersal spot or nidus. The construction of lung tissue was disordered in the model rats. The thickness of alveolar wall was found increased. There were large area interstitial hyperplasia and a large number of inflammatory cells infiltrations. The construction of lung tissue was apparently improved. A majority of alveolar wall was monolayer cell. There were only less and small area with interstitial hyperplasia. Inflammatory cell infiltration was significantly decreased. The anti-human nucleus specific antibody positive hAMSCs were observed planted and survived in lung interstitial tissue. And few hAMSCs were observed planted in alveolar wall. Conclusion The transplanted hAMSCs can be planted and survived in lung tissue ,and may play a therapeutic role in araquat-induced pulmonary fibrosis.
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Objective@#This study aimed at determining the characteristics of the glucose homeostasis and its relationship with iron overload of the patients with β-thalassemia major (β-TM).@*Method@#From Sun Yat-sen Memorial Hospital between January 2014 and December 2015, a total of 57 transfusion-dependent β-TM patients with 5-18 years old were enrolled in this study and fasting blood glucose(FBG) and insulin level, serum ferritin (SF), serum iron, transferrin, total iron binding capacity, unsaturated iron binding capacity were determined.Insulin resistance index (IRI), insulin sensitivity index and β-cell function index (BFI) were also estimated. Besides, in 36 patients cardiac T2* and liver T2* were estimated.@*Result@#(1) Four patients(7%) with β-TM were diagnosed diabetes mellitus, and 14(24%) had impaired fasting glucose. (2) The incidence of abnormal glucose metabolism was significantly different according to levels of SF and degrees of the cardiac iron overload(χ2=9.737, P<0.05; χ2=17.027, P<0.05). It rose while the level of SF increased and the degree of cardiac iron overload aggravated. (3) The incidence of abnormal glucose level was not significantly different in cases with different degree of liver iron overload.The severe group of liver iron overload had significantly higher levels of INS, HOMA-βFI, HOMA-ISI, HOMA-βFI than the non-severe group (Z=-2.434, -2.515, F=8.658, all P<0.05), while no differences were found in the level of FBG, HOMA-βFI between two groups. (4) The result of logistic regression analysis indicated that the cardiac T2* was a significant predictor for the incidence of abnormal glucose metabolism in TM patients (P=0.035, OR=1.182%, 95%CI=1.048 to 1.332).@*Conclusion@#The high prevalence of abnormal glucose metabolism in β-TM patients was mainly closely related with the internal iron overload, especially in organs.The cardiac T2* was an independent risk factor for the incidence of abnormal glucose metabolism in TM patients.
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Objective To investigate the changes of thyroid autoantibody(TAA)in children with Turner syndrome(TS),and its association between TAA and thyroid dysfunction,age,karyotype and dyslipidaemia.Methods Thirty-two patients with TS diagnosed by chromosome analysis hospitalized at Sun Yat-Sen Memorial Hospital,Sun Yat-Sen University from July 2007 to July 2015 were divided into 2 groups based on TAA-positive or TAA-negative,then the thyroid dysfunction,the age,the karyotype and the lipid metabolism were compared between 2 groups.Results Of the 23 cases of TAA-positive girls(23/32 cases,71.88％),9 girls(39.13％)suffered from thyroid dysfunction;of the 9 cases of TAA-negative girls(9/32 cases,28.12％),3 girls(33.33％)had thyroid dysfunction.As compared with the girls in TAA-negative group,the age in TAA-positive group was significantly higher[(12.08±2.90)years old vs.(8.89±4.17)years old],and the difference was significant(t=101.500,P=0.047).The patients were divided into 4 age groups:0-5 years old,>5-10 years old,>10-15 years old and >15 years old;the rates with TAA-positive were 25.00％(1/4 cases),75.00％(6/8 cases),82.35％(14/17 cases)and 66.67％(2/3 cases)respectively.Twenty patients received the lipid metabolism test,and 11 cases(11/20 cases,55.00％)of them suffered from dyslipidaemia,9 cases of them were TAA-positive(9/11 cases,81.82％),and 2 cases were TAA-negative(2/11 cases,18.18％).The differences in the prevalence of dyslipidaemia between the 2 groups were significant(x2=4.848,P=0.028).There was no significant difference in the numbers of TAA-positive cases among different karyotypes(x2 =4.246,P=0.120).Conclusions Patients with TS are prone to suffer from thyroid dysfunction and dyslipidaemia.Timely detection of TAA and thyroid function is recommended,as well as the lipid metabolism if necessary.
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Objective To investigate the impact of transplantation of human amniotic mesenchymal stem cells(hAMSCs)on the histopathological change in paraquat-induced pulmonary fibrosis in rats. Methods Forty-six female SD rats were randomly divided into the sham surgery group and the hAMSCs transplant group. Pulmonary fibrosis model was induced by 2％ of paraquat intragastric administration(100 mg/kg/rat). hAMSCs were injected through caudal vein(2 × 106 cells/mL/rat). The histopathological changes were observed through microscopy after HE and the immunohistochemical staining. Results General conditions in rats received hAMSCs transplantation were better than those of the model rats. More large area and white fibrosis nidus were observed in bilateral lung of model rats,with less dispersal spot or nidus. The construction of lung tissue was disordered in the model rats. The thickness of alveolar wall was found increased. There were large area interstitial hyperplasia and a large number of inflammatory cells infiltrations. The construction of lung tissue was apparently improved. A majority of alveolar wall was monolayer cell. There were only less and small area with interstitial hyperplasia. Inflammatory cell infiltration was significantly decreased. The anti-human nucleus specific antibody positive hAMSCs were observed planted and survived in lung interstitial tissue. And few hAMSCs were observed planted in alveolar wall. Conclusion The transplanted hAMSCs can be planted and survived in lung tissue ,and may play a therapeutic role in araquat-induced pulmonary fibrosis.
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In recent years,with the criterion and scaling up of newborn screening work,not only the rates of neonatal congenital hypothyroidism screening increased year by year but also more and more neonatal hyperthyrotropinemia children have been found.How to correctly understand the neonatal hyperthyrotropinemia is still one of the problems in the clinical work.This article will review the causes,diagnosis,prognosis and treatment principles of hyperthyrotropinemia.
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BACKGROUND: As is well known that hematopoietic stem and progenitor cells (HSPCs) contain in bone marrow, peripheral blood, and cord blood. Recent studies found that human placenta tissue (PT) also exists in HSPCs. But so far the property and differentiation capacity of human PT-HSPCs is not yet known. Furthermore the composition of lymphocyte subpopulations and immunogenicity regarded to human PT-HSPCs are also unclear.OBJECTIVE: To verify whether there are more HSPCs in human PT than those in human umbilical cord blood (UCB), to investigate their capacities of proliferation and differentiation, and to analyze the phenotypes of lymphocyte subpopulations in human PT.DESIGN, TIME AND SETTING: Open eXperiments were performed at the Key Laboratory of Cell Engineering of Guizhou Provinee from January 2004 to December 2006.SETTING: Key Laboratory of Cell Engineering of Guizhou Province, the Affiliated Hospital of Zunyi Medical College.MATERIALS: Twelve human placenta and UCB samples through cesarean delivery were collected aseptically with the informed consents of parturients derived from Maternity Department of the Affiliated Hospital of Zunyi Medical College. The main reagents were detailed as follows: lymphocyte subpopulations analysis reagents Simultest IMK-lymphocyte Kit, CD34 absolute counting reagents Kit (Becton Dickinson); CD34 Multisort Kit, FITC conjugated CD38 monoclonal antibody, anti-FITC microbeads and MS/LS mini MACS segregating, columns (Miltenyi Biotec).METHODS: UCB samples were 1:1 diluted with RPMI-1640 containing 0.1 volume fraction of fetal bovine serum and the mononuclear cells (MNCs) were isolated on Ficoll-Histopaque by centrifugation for 30 minutes. The MNCs at the interface were collected and washed with PBS. Single cells suspension liquid of human PT was prepared by mechanical method combined with 0.25g/L collagenase digestion. After that, the placenta samples underwent the same protocol as used in UCB to isolate MNCs. The percentage of CD34+CD38-, CD34+CD38+ HSPCs and the phenotype of lymphocyte subpopulations derived from human PT-MNCs were analyzed by flow cytometry (FCM). CD34+CD38-, CD34+CD38- cell subsets isolated by magnetic-activated cell sorting (MACS) from human PT were used to carry out colony-forming culture including granulocyte/macrophage colony-forming unit (CFU-GM), burst forming unit-erythroid (BFU-E) and mixed colony-forming unit (CFU-Mix) in order to assess their capacities of hematopoietic progenitor cells' proliferation and differentiation. In parallel, UCB samples underwent the same protocols for comparison.MAIN 0UTCOME MEASURES: Percent compositions of CD34+ HSPCs, hematopoietic progenitors' lineage colony-forming capacities of CD34+ HSPCs, phenotypes and compositions of lymphocyte subpopulations both in PT and UCB.RESULTS: The percentage of CD34+ cells contained in human PT was 8.8 times higher than that of in UCB (P<0.01). The total number of lymphocytes, T cells (CD3+CD2+), B cells (CD19+), Th (CD3+CD4+) and Th/Ts ratio were apparently lower in human placenta, while the number of CD8+CD28- T suppressor cells were higher compared to UCB samples (P<0.01). Among PT, CFU-GM, BFU-E and CFU-Mix frequencies of CD34+CD38- cells subset were much higher than that of CD34+CD38- (P<0.01). Within the same phenotype of cell subsets, however, the number of each colony-forming unit was similar between PT and UCB (P 0.05).CONCLUSION: Human PT is richer in CD34+CD38-, CD34+CD38+ HSPCs and both of them have the abilities of proliferating and differentiating into CFU-GM, BFU-E and CFU-Mix. Considering that human PT have a lower lymphocyte subpopulations and higher Ts cells, human PT might be a alternative and suitable source of HSPCs for clinical transplantation.