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排序方式: 共有1839条查询结果,搜索用时 31 毫秒
31.
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
32.
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
33.
Prof. Dr. med. J. F. Riemann B. Kohler J. Weber D. Schlauch 《Journal of molecular medicine (Berlin, Germany)》1992,70(2):148-151
Summary Intracorporeal shockwave lithotripsy was performed in 36 patients with problematic common bile duct stones. All of the patients had undergone unsuccessful mechanical lithotripsy prior to this procedure. In 29 patients (80.6%), the stones were fragmented under cholangioscopic control and subsequently extracted with a Dormia basket. In seven patients, the procedure failed due to stone impaction or failure to intubate the common bile duct with a nasobiliary tube. No complications were observed. Cholangioscopically guided intracorporeal shockwave lithotripsy is a highly effective and safe procedure for the conservative treatment of complicated common bile duct stones.Abbreviations ESWL
extracorporeal shock-wave lithotripsy
- ISWL
intracorporeal shock-wave lithotripsy
Dedicated to Prof. Dr. med. Ludwig Demling on the occasion of his 70th birthday 相似文献
34.
35.
The baseline EEG sleep patterns of 10 young depressed patients, 20 patients with anorexia nervosa, 10 patients with bulimia nervosa, and 10 healthy subjects were found to be indistinguishable, except for an increased REM density in the depressed patients. In eating disorder patients, a concomitant major depressive episode had no influence on EEG sleep. The results of the cholinergic REM sleep induction test revealed a significantly faster induction of REM sleep in the depressed patients when compared with the eating disorder patients and the control subjects. This indicates a subthreshold hypersensitivity of the REM sleep triggering cholinergic transmitter system in depressives, but not in eating disorder patients. 相似文献
36.
Intracellular potassium activities in Amphiuma small intestine 总被引:2,自引:0,他引:2
37.
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
38.
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
39.
Nausicaa Christodoulou Léa Bertrand Laura Palagini Justine Frija-Masson Marie-Pia d'Ortho Michel Lejoyeux Dieter Riemann Julia Maruani Pierre A. Geoffroy 《Journal of sleep research》2023,32(1):e13752
Insomnia is the most frequent sleep disorder and a public health concern that increased during the Covid 19 pandemic. Fully restrictive lockdowns during Covid are interesting periods to examine the impact of environmental and behavioural changes on the emergence of insomnia symptoms. In this cross-sectional study we aimed to (1) determine the main factors associated with insomnia symptoms during a Covid-19 fully restrictive lockdown examining the associated daily life alterations and (2) create a predictive model of insomnia symptoms. We used the data drawn from the “Covid-RythmE” study that reached volunteers from the general French population through an online survey during the last 2 weeks of the 2 month full lockdown. Associations with insomnia symptoms were tested and significant associations were entered in a Backward Stepwise Logistic Regression (BSLR) to assess the best combination to classify individuals with or without insomnia symptoms. From the 1624 participants, 50.64% suffered from mild to severe insomnia symptoms as assessed by the ISI. The best combination for explaining insomnia symptoms with 74.26% of accuracy included: age (OR = 1.15), females (OR = 1.26), smaller home sizes (OR = 0.77), environmental noises (OR = 1.59), anxiety symptoms (OR = 1.24), depressive symptoms (OR = 1.15), regularity of sleep–wake schedules (OR = 1.25), exposure to screen during the morning (OR = 1.13), and LED light during the evening (OR = 1.17). Thus, lifestyle schedule and exposure to natural synchronizers such as light, are primordial in considering in insomnia physiopathology, prevention and treatment, as well as the associated mental health status. 相似文献
40.