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21.
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia 总被引:1,自引:0,他引:1
Nakae J; Tajima T; Sugawara T; Arakane F; Hanaki K; Hotsubo T; Igarashi N; Igarashi Y; Ishii T; Koda N; Kondo T; Kohno H; Nakagawa Y; Tachibana K; Takeshima Y; Tsubouchi K; Strauss JF rd; Fujieda K 《Human molecular genetics》1997,6(4):571-576
Genomic DNA from 19 Japanese patients with congenital lipoid adrenal
hyperplasia (lipoid CAH) representing 16 different families was examined to
identify the genetic alterations of steroidogenic acute regulatory protein
(StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY
karyotype. Six of the 46,XX patients have experienced spontaneous pubertal
changes including breast development and irregular menstruation whereas
none of the 46,XY subjects displayed pubertal changes. Eight different
mutations were identified. Sixteen patients were either homozygotes or
compound heterozygotes for the Q258X mutation. The seven other mutations
identified were 189delG, 246insG, 564del13bp, 838delA, Q212X, A218V and
M225T. The 189delG, 246insG, 546del13bp and Q212X mutants encode truncated
proteins. COS-1 cells transfected with expression vectors encoding cDNAs
for the mutant StAR proteins which affect the C-terminus, 838delA, A218V
and Q258X, exhibited no steroidogenesis enhancing activity. However, the
M225T mutant retained some steroidogenic activity. The patient with the
M225T mutation had late onset of this disorder and some capacity to secrete
testosterone in response to hCG. These findings suggest: (i) that the Q258X
mutation can be used as a genetic marker for the screening of Japanese for
lipoid CAH, (ii) that the C-terminus of StAR plays an important role in the
protein's activity and (iii) that there are differences in the extent of
functional impairment of the testis and ovaries in lipoid CAH.
相似文献
22.
Mercan R; Mayer JF; Walker D; Jones S; Oehninger S; Toner JP; Muasher SJ 《Human reproduction (Oxford, England)》1997,12(9):1886-1889
The aim of this study was to compare the efficacy of pure follicle
stimulating hormone (FSH) with that of FSH/human menopausal gonadotrophin
(HMG) combination in downregulated cycles. A total of 357 patients was
evaluated retrospectively. Sixty percent of patients in the FSH group and
55% in the FSH/HMG group were new; the others were repeat patients.
Ovulation was suppressed with leuprolide acetate in all patients, followed
by either FSH (n = 218) or FSH/HMG (n = 119). There was no difference in
patients' age, infertility factors, number of ampoules used, length of
stimulation, oestradiol levels on day of human chorionic gonadotrophin
(HCG) administration, number of oocytes recovered or the number of embryos
transferred. Also, nuclear maturity at aspiration and fertilization rates
were not different between the two groups. FSH stimulation resulted in a
significantly higher percentage of mature oocytes that showed the typical
'mature' morphological characteristics (P < 0.0001). The clinical
pregnancy rates per transfer were 40 and 28% in patients stimulated with
pure FSH and FSH/HMG respectively (P < 0.05). The significantly higher
number of immature oocytes matured in vitro in the FSH/HMG group (P =
0.001) suggests a possible effect on in-vitro maturation, due to
luteinizing hormone present in HMG. The difference in mature oocyte quality
may be an important determinant in the higher pregnancy rates for the FSH-
stimulated patients.
相似文献
23.
Sophie Caillat-Zucman Eric Bertin Jos Timsit Christian Boitard Roger Assan Jean-Franois Bach 《European journal of immunology》1993,23(8):1784-1788
HLA class II association with insulin-dependent diabetes mellitus (IDDM) is well established but is still difficult to map to a particular locus. Polymorphism of the genes coding for transporter associated with antigen processing (TAP1 and TAP2), and located in the HLA class II region, was studied in 167 IDDM patients (116 adult-onset and 51 childhood-onset patients) and 98 normal controls using oligotyping after genomic amplification. A dominant protective effect was observed for theTAP2*0201 allele [relative risk (RR)=0.3, corrected probability (pc) < 0.001]. Conversely, susceptibility to IDDM was associated with apparent homozygosity for the TAP2*0101 allele (RR=3.4, pc < 0.001). Protection was independent from but additive to the protection conferred by the DRB1*02 DQB1*0602 haplotype (RR=0.06, pc<0.05), and antagonistic to the DRB1*03 DQB1*0201 and DRB1*04 DQB 1*0302 haplotypes predisposing effect (RR=1.1, not significant), arguing in favor of an absence of linkage disequilibrium between TAP2 and HLA class II genes. This was assessed by x2 analysis. TAP1 allelic distribution was not different among diabetics and controls. A significant association was observed between the presence of TAP2*0101 and that of islet cell antibodies (p < 0.05). These data suggest that the TAP2 gene, which encodes protein required for delivery of antigen peptides to class I molecules in the endoplasmic reticulum, could modulate the autoimmune response leading to β cell destruction. From a practical point of view, they make the combined screening of HLA class II and TAP2 loci a highly valuable tool in IDDM prediction. 相似文献
24.
25.
Cell-mediated immunity to pancreatic islet cells in the non-obese diabetic (NOD) mouse: in vitro characterization and time course study
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The non-obese diabetic (NOD) mouse is an animal model of insulin-dependent diabetes mellitus (IDDM), in which 80% of the females become diabetic after the age of 12 weeks. Using an in vitro assay we investigated the capacity of spleen lymphocytes from NOD mice to inhibit the insulin secretion of normal islet cells after stimulation by theophylline plus arginine. Spleen cells from diabetic NOD mice inhibited the insulin release of DBA/2 islet cells. Depletion experiments using monoclonal antibodies demonstrated that inhibitory cells belonged to the Lyt2 positive T lymphocyte subset. The phenomenon was not restricted by the MHC class I K region, shared by NOD and DBA/2 mice, since lymphocytes from diabetic NOD mice also inhibited the insulin secretion of normal Wistar rat islet cells. Inhibitory T cells were detected in overtly diabetic mice but also in non-diabetic females aged 5-11 weeks indicating that they are not secondary to metabolic disturbances and might contribute to their onset. Conversely they were not found in male NOD mice although some of these mice show insulitis. The presence of these inhibitory T cells might thus represent an early and sensitive marker of anti-islet cell-mediated autoimmunity. 相似文献
26.
Intracellular potassium activities in Amphiuma small intestine 总被引:2,自引:0,他引:2
27.
28.
Nathalie Chavarot Gillian Divard Anne Scemla Lucile Amrouche Olivier Aubert Marianne Leruez-Ville Marc O. Timsit Claire Tinel Julien Zuber Christophe Legendre Dany Anglicheau Rebecca Sberro-Soussan 《American journal of transplantation》2021,21(7):2448-2458
Belatacept may increase cytomegalovirus (CMV) disease risk after conversion from CNI-based therapy. We analyzed CMV disease characteristics after belatacept conversion. Propensity score matching was used to compare CMV disease incidence in belatacept- and CNI-treated kidney transplant recipients (KTRs). CMV disease characteristics and risk factors under belatacept were analyzed. In total, 223 KTRs (median age [IQR] 59.2 years [45.4–68.5]) were converted to belatacept (median of 11.5 months [2.5–37.0] post-transplantation); 40/223 (17.9%) developed CMV disease. Independent risk factors included increased age (p = .0164), D+/R− CMV serostatus (p = .0220), and low eGFR at conversion (p = .0355). Among 181 belatacept-treated patients matched to 181 controls, 32/181 (17.7%) experienced CMV disease (vs. 5/181 controls [2.8%]). CMV disease cumulative incidences were 6.33 and 0.91/100 person-years (p-y) in belatacept and control groups, respectively. CMV disease risk was particularly high in elderly patients (converted >70 years) and those with eGFR <30 ml/min; cumulative incidences were 18.4 and 5.2/100 p-y, respectively. CMV diseases under belatacept were atypical, with late-onset disease (24/40 patients [60%]), high CMV seropositivity (27/40, 67%), increased severe and tissue-invasive disease rates (gastrointestinal involvement in 32/40 [80%]) and life-threatening diseases (4/40 [10%]). These findings should stimulate further research to secure the use of belatacept as a valuable rescue therapy in KTRs. 相似文献
29.
1 临床资料 患者 ,女 ,6 1岁 ,1999- 0 6 - 0 3日确诊为急性红白血病 (M6 ) .先后 4次住院 ,鉴定血型均为 O型 . 2 0 0 0 - 0 1- 2 2日复诊 ,正反鉴定表明 ,患者红细胞与抗 - B不凝集 ,与抗 - A凝集 ,血清中有抗 - B抗体 (表 1) ,吸收释放试验证实为 A型 (表2 ) .输 A型浓缩红细胞 2 μ,无不良反应 .表 1 血型正反鉴定试剂血清试剂红细胞标本抗 A 抗 B 抗 A+ B Ac Bc Oc被检红细胞 2 + -3+ ---自身血清 -3+ -表 2 吸收、放散试验被检 RBC吸收抗血清后上清被检 RBC吸收抗血清后释放液试剂细胞抗 A修正液抗 B修正液抗 A修正液抗… 相似文献
30.
综合疗法治愈狼疮性急性肾衰1例 总被引:3,自引:2,他引:1
1 病例报告 患者 ,女 ,6 0岁 ,因反复发热 2 5 a、全身性关节疼痛 2 3 a,双下肢水肿 2 mo,腹胀、尿少 1mo,于 1998- 10 - 2 0入院 .1975年患者出现发热 ,全身关节疼痛 ,四肢关节周围皮肤出现结节性红斑 ,触之疼痛 ,多次化验血沉 115 mm· h- 1 ,抗核抗体阴性 ,类风湿因子阳性 ,未找到狼疮细胞 ,诊断为“类风湿性关节炎”.1986年因上述症状复发再次入我院 ,多次检查后发现血抗核抗体 ( ) ,抗双链 DNA抗体 ( ) ,临床确诊为系统性红斑狼疮 (SL E) ,狼疮性肝炎 ,狼疮性胸膜炎 ,狼疮性肺炎 .经治疗好转 ,但上述症状反复发作 .此次上述症状复… 相似文献