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OBJECTIVE@#To report on the clinical pictures of 7 patients from a pedigree affected with X-linked adrenal hypoplasia congenita (XL-AHC) and hypogonadotropic hypogonadism (HH) and the underlying mutations.@*METHODS@#Seven patients were identified from a four-generation pedigree affected with XL-AHC and HH. Their clinical features, endocrinological changes, treatment and drug response were recorded. The patients were subjected to next-generation sequencing, and the result was verified by Sanger sequencing. PolyPhen-2 was used for predicting the influence of the mutation on protein production.@*RESULTS@#Three deceased patients had manifested adrenal insufficiency (AI) within one year after birth. Two died at 6 and one died at 12. The four survivors presented with salient clinical and endocrinological features of AHC and HH, adrenal and testicular atrophy, and renin-angiotensin compensation. Two adult patients had testicular micro-stone detected by ultrasound.One of them also had remarkable seminiferous tubule degeneration by biopsy. The patients were followed up for 0.5 to 10 years. All required hyper-physiological dose of hydrocortisone to stabilize their clinical condition. In three patients, gonadotropic or androgen replacement induced cardinal masculine development but with unsatisfactory testis growth and sperm production.Genetic analysis revealed a novel missense c.827A>C (p.Q276P) mutation in a hotspot region within a highly conserved domain. PolyPhen-2 predicted the mutation to be highly hazardous.@*CONCLUSION@#The novel p.Q276P mutation of the DAX1 gene probably underlies the XL-AHC and HH in this pedigree with variable clinical presentations in the patients.
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Humans , Male , Adrenal Insufficiency , DAX-1 Orphan Nuclear Receptor , Genetics , Hypoadrenocorticism, Familial , Genetics , Mutation , Mutation, Missense , Pedigree , Repressor ProteinsABSTRACT
Objective To investigate use of magnetic resonance diffusion tensor imaging (MR-DTI) for quantitatively evaluating the efficacy of Mailuoning Injection on non-compressive lumbar radiculitis.Methods Nine Bama mini pigs were selected and divided into group A,B and C,3 cases in each group.The non-compressive lumbar radiculitis model was established under CT-guiding.The corresponding therapeutic drugs (group A:10 mL Mailuoning;group B:10 mL normal saline;group C:10 mL diminishing inflammation fluid) were given by epidural injection on 14 d after constructing model.MR-DTI was performed before model construction,14 d after model construction and before treatment.One experimental pig in each group was taken on 3,7,14 d after treatment,performed MR-DTI and killed for taking the nerve root sample to conduct the immunohistochemical detection.The fractional anisotropy (FA) values of nerve root in MR-DTI imaging were measured.The FA values and immunohistochemical detection results were statistically analyzed.Results MR-DTI:the FA values after model construction in each group was decreased (P0.05),but the FA values increase in the group C was earlier and more rapid than other two groups (P0.05),while the FA values had statistical difference between the group B and C (P<0.05).The immunohistochemical results:TNF-α integral absorbency value(IA value) on 7 d after treatment in the group A began to decline;the TNF-α IA value on 14 d after treatment in the group A and C was significantly decreased compared to group B,the difference was statistically significant (P<0.05).Conclusion Mailuoning Injection has a certain effect on non-compressive lumbar radiculitis,which can be evaluated by using DTI.
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Objective To explore the effects of oxidative damage and selenium on the apoptosis of articular chondrocytes and the expression of selenoprotein genes.Methods C28/I2 chondrocytes were preincubated for 24 h,using sodium selenite (Na2SeO3) or t-butyl hydroperoxide (tBHP) for 24 h.The experiment was divided into six groups,including control group (C,0.00 mg/L Na2,SeO3 + 0.00 μmol/L tBHP),selenium beforehand protection group (S2,0.10 mg/L Na2SeO3),oxidative damage group (O,150.00 μmol/L tBHP),low dose selenium protection group (OS 1,0.05mg/L Na2SeO3 + 150.00 μmol/L tBHP),medium dose selenium protection group (OS2,0.10 mg/L Na2SeO3 + 150.00 μmol/L tBHP),and high dose selenium protection group (OS3,0.15 mg/L Na2SeO3 + 150.00 μmol/L tBHP).After 24 h,Hoechst 33342 staining method was used to observe apoptosis,mRNA expression of glutathione peroxidase 1 (GPX1),GPX4,deiodinase 2 (DIO2),DIO3,selenoprotein P (SEPP1),thioredoxin reductase 1 (TrxR-1) and selenoprotein W(Sel W) was detected by Real-time PCR,both experiments were done three times.Results Apoptotic rates of C,S2,O,OS1,OS2,OS3 groups [(0.78 ± 0.06)％,(13.61 ± 7.11)％,(92.27 ± 3.44)％,(71.38 ± 5.22)％,(44.31 ± 9.16)％,(72.46 ± 4.69)％] were compared between groups,the differences were statistically significant (F =120.10,P ＜ 0.01).The apoptotic rates of O group was significantly higher than that of C group (P ＜ 0.05);compared to O group,the apoptotic rates of OS1,OS2,OS3 groups decreased significantly (P＜ 0.05),OS2 group was the most obvious.DIO2,SEPP1,GPX1,GPX4,TrxR-1,Sel W mRNA levels were compared in the six groups,the differences were statistically significant (F =24.60,14.53,127.60,30.60,637.10,59.64,P ＜ 0.01).Compared to C group (1.00 ± 0.00),the mRNA levels of GPX1 (0.10 ± 0.05),GPX4 (0.43 ± 0.09),TrxR-1 (0.11 ± 0.05) and Sel W (0.72 ± 0.15) in O groups were decreased significantly (P ＜ 0.05);compared to 0 group,the mRNA levels of GPX1 in OS1 (0.20 ± 0.03),OS2 (0.74 ± 0.10),and OS3 (0.30 ± 0.07) were increased significantly (P ＜ 0.05).Conclusion Down-regulated expression of selenoprotein genes are involved in the regulation process of articular cartilage apoptosis caused by oxidative stress,selenium also has a regulatory role in selenoprotein gene expression in articular chondrocytes.
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Objective To explore the effects of oxidative damage and selenium on the apoptosis of articular chondrocytes and the expression of selenoprotein genes.Methods C28/I2 chondrocytes were preincubated for 24 h,using sodium selenite (Na2SeO3) or t-butyl hydroperoxide (tBHP) for 24 h.The experiment was divided into six groups,including control group (C,0.00 mg/L Na2,SeO3 + 0.00 μmol/L tBHP),selenium beforehand protection group (S2,0.10 mg/L Na2SeO3),oxidative damage group (O,150.00 μmol/L tBHP),low dose selenium protection group (OS 1,0.05mg/L Na2SeO3 + 150.00 μmol/L tBHP),medium dose selenium protection group (OS2,0.10 mg/L Na2SeO3 + 150.00 μmol/L tBHP),and high dose selenium protection group (OS3,0.15 mg/L Na2SeO3 + 150.00 μmol/L tBHP).After 24 h,Hoechst 33342 staining method was used to observe apoptosis,mRNA expression of glutathione peroxidase 1 (GPX1),GPX4,deiodinase 2 (DIO2),DIO3,selenoprotein P (SEPP1),thioredoxin reductase 1 (TrxR-1) and selenoprotein W(Sel W) was detected by Real-time PCR,both experiments were done three times.Results Apoptotic rates of C,S2,O,OS1,OS2,OS3 groups [(0.78 ± 0.06)％,(13.61 ± 7.11)％,(92.27 ± 3.44)％,(71.38 ± 5.22)％,(44.31 ± 9.16)％,(72.46 ± 4.69)％] were compared between groups,the differences were statistically significant (F =120.10,P ＜ 0.01).The apoptotic rates of O group was significantly higher than that of C group (P ＜ 0.05);compared to O group,the apoptotic rates of OS1,OS2,OS3 groups decreased significantly (P＜ 0.05),OS2 group was the most obvious.DIO2,SEPP1,GPX1,GPX4,TrxR-1,Sel W mRNA levels were compared in the six groups,the differences were statistically significant (F =24.60,14.53,127.60,30.60,637.10,59.64,P ＜ 0.01).Compared to C group (1.00 ± 0.00),the mRNA levels of GPX1 (0.10 ± 0.05),GPX4 (0.43 ± 0.09),TrxR-1 (0.11 ± 0.05) and Sel W (0.72 ± 0.15) in O groups were decreased significantly (P ＜ 0.05);compared to 0 group,the mRNA levels of GPX1 in OS1 (0.20 ± 0.03),OS2 (0.74 ± 0.10),and OS3 (0.30 ± 0.07) were increased significantly (P ＜ 0.05).Conclusion Down-regulated expression of selenoprotein genes are involved in the regulation process of articular cartilage apoptosis caused by oxidative stress,selenium also has a regulatory role in selenoprotein gene expression in articular chondrocytes.
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[Summary] Sixty-one patients suffering from pituitary apoplexy( PA) were mainly diagnosed according to pathologic findings, and were collected from case record, pathology, and MRI databases. They were classified into 4 types according to the clinical condition: the insidious type was characterized with only positive pathological findings;the asymptomatic type had both positive pathologic and MRI findings; the subacute type had PA associated symptoms longer than 2 weeks; and the acute type had PA associated symptoms for 2 weeks or less. The latter 2 types had positive pathological and MRI findings additionally. The basic lesions, acute or chronic symptoms, endocrinopathies and MRI findings were compared among 4 types. Results showed as followed. In all patients, there were headache(60. 7% ), blurred vision(55. 7% ), vomiting(21. 3% ), and dizziness(14. 8% ). Apoplexy associated symptoms comprised severe headache (24. 6% ), rapid vision loss (29. 5% ), and blepharopotosis or diplopia (9. 83% ). Insidious, asymptomatic, subacute, and acute types were composed of 15 (24. 6% ), 9 (14. 8% ), 19 (31. 1% ), and 18 (29. 5% ) cases, respectively. Aging and intracranial space-occupying symptoms as first complaint showed increasing trend from mild to severe types(both P<0. 05), while in chronic course it showed decreasing trend(P<0. 05). Acute massive symptoms(P<0. 01), and non-functional tumor(P<0. 01) in the 2 clinical types were much more frequent than in the two mild types. Half or more pituitary-target glands showed impaired functions in each type, and the impairment showed increasing trend through mild to severe types(P<0. 01). The present study provided a brief typing system in order to expand PA concept to a wider span covering various conditions. Some differences in tumor composition and endocrinopathies existed among the four types.
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Objective To evaluate the effect of noninvasive diagnosis methods direct rectal examination (DRE) ,transrectal ultra-sonography(TRUS) and multiparametric magnetic resonance imaging(MP-MRI) for prostate cancer detection .Methods The clini-cal data of 113 patients suspected prostatic cancer were analyzed retrospectively .Every patient was examined by TRUS ,DRE and MP-MRI before pathology or operation .The sensitivity rate and the specificity rate of DRE ,TRUS and MP-MRI were calculated and compared among the three methods .Results The sensitivity rate and the specificity rate of prostate cancer were 33 .3% and 88 .7% for DRE ,62 .7% and 67 .7% for TRUS ,86 .3% and 83 .9% for MP-MRI respectively ,two comparison between the three group had statisfically difference(P<0 .05) .But ,of prostate cancer with prostate specific antigen (PSA) 4 .0~10 .0 ng/mL in gray zone ,the sensitivity rate and the specificity rate were 27 .8% and 86 .5% for DRE ,44 .4% and 59 .5% for TRUS ,77 .8% and 81 .1% for MP-MRI ,two comparison between the three group had statisfically difference(P<0 .05) .Conclusion MP-MRI has bet-ter detection efficiency .It could obviously reduce the missed diagnosis rate on PCA with PSA in gray zone .
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ObjectiveTo analyze the MR imaging features of epileptogenic focal cortical dysplasia (FCD)and to optimize the scanning protocols by correlating MRI appearance with pathological findings.MethodsMRI findings and the relative scanning protocols in 36 patients with surgically and pathologically proved 40 lesions of FCD were retrospectively analyzed. According to Palmini classification system,all 40 lesions were pathologically categorized as FCD type Ⅰ (including FCD Ⅰ A and FCD Ⅰ B) and FCD type Ⅱ (including FCD Ⅱ A and FCD ⅡB ). The distribution of cerebral or dual lesions accompanied hippocampal sclerosis were observed.Differences of the distribution of cerebral in FCD type Ⅰ and FCD type Ⅱ were compared by using Fisher exact probabilities. MR scans in all patients consisted of routine and optimized protocols.Axial FSE T2WI,axial SET1WI and axial FLAIR were recognized as routine scanning protocols,while adding oblique coronal FSE T2WI and FLAIR were recognized as optimization scanning protocols.Both routine and optimization scanning protocols were performed in all patients.The conspicuity of main findings of FCD on different imaging plane and sequences of each protocol were assessed.The detection of cerebral or dual lesion and the accompanied hippocampal sclerosis were compared between the routine protocol and the optimized protocol by using McNemar test.ResultsForty lesions were found in 36 cases with FCD,29 had temporal lobe lesion (72.5％ ),9 had frontal lobe lesion(22.5％ ) and 2 had parietal lobe lesion (5.0％).According to Palmini classification system,29 lesions in 27 patients (72.5％ ) were FCD type Ⅰ,11 lesions in 10 patients (27.5％) were FCD type Ⅱ lesions.There were 25 temporal lobe lesions in FCD type Ⅰ,while 4 in FCD type Ⅱ.There were statistically significant differences between FCD type Ⅰ group and FCD type Ⅱ group in the distribution of cerebral (P =0.002 ).Fourteen cases were found to have hippocampal sclerosis simultaneously,with 13 cases found in FCD type Ⅰ patients and 1 case in type Ⅱ patients.The detection rate of temporal lobe lesion was 65.5 ％ (19/29) and 44.8 ％ ( 13/29 ) respectively on optimized protocol and routine protocol.There was statistically significant difference ( x2 =4.167,P =0.031 ).The detection rate of hippocampal sclerosis was 85.7％ (12/14) and 42.9％ (6/14) respectively on optimized protocol and routine protocol respectively.There was statistically significant difference ( x2 =4.167,P =0.031 ).The detection rate of frontal lobe lesion showed no statistically significant difference between optimized protocols and routine protocols (x2 =0.304,P =1.000 ).Conclusions FCD was frequently involved the temporal lobe,followed by the frontal lobe.FCD type Ⅰ lesion was frequently found in the temporal lobe,with a higher incidence of concomitant hippocampal sclerosis. The optimized whole temporal lobe scanning with imaging plane perpendicular to the hippocampus long axis was a highly desired scanning protocol specifically for FCD,which is helpful for the detection of the FCD lesions.
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Objective To investigate the neural representations of long-term digital memory in human brain by functional magnetic resonance imaging (fMRI) technique. Methods 22 right-handed normal volunteers were recruited to participate in a test of long-term digital memory while the fMRI data were recorded. Control tasks were performed for the block-design. SPM 99 was used to analyze the data and to obtain the activated brain regions.Numbers of activated voxels were used to calculate lateralization index (LI). Results When the threshold was set as P＜0. 0001 ,using a one-sample t -test,the middle gyrus of the left frontal lobe(t=9.68) and the right cerebellum ( t = 9.85 ) were activated remarkably during the memory task. The subcortical structures including the thalamus (t=6.72) and the caudate (t=6.58) were also obviously activated during the memory task. LI of the numbers of activated voxels was 0.51. Conclusions The subcortical structures and the cerebellum as well as the cerebral cortex are collaborative to contribute to long-term digital memory function in human brain. The results also reveal that the functional areas of long-term digital memory in human brain are localized with the functional lateralization in the left hemisphere.
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Objective To compare the characteristics and differences of the activation of the brain regions between the digital memory span task and digital working memory task.Methods 12 right-handed volunteers participated in a test of 7-digit memory span and a test of 2-digit working memory respectively, while the functional MR imaging (fMRI) data were recorded by a Seimens 1.5 T MR machine. Two control tasks were performed respectively and stimulation paradigms was block-design. SPM 99 was used to analyze the data and to localize the activated brain regions.Results The Brodmann area (BA) 6, 9 and 47 regions in the frontal lobe, the BA 7 and 40 regions in the parietal lobe, the cingulate gyrus, the hippocampus structures, the striatum and the cerebellum were activated by both tasks in comparison to their control tasks. Bilateral BA 18 and 19 regions of the occipital lobe without hemisphere predominance were the most activated regions by the digital memory span task, and the BA 37 region of the temporal lobe was also activated. However, the frontal lobe with left predominance was the most activated region by the digital working memory.Conclusion Different brain regions play distinct roles in different short-term digital memory tasks, and might be involved in different stages. The fMRI is a good tool for exploring the process of digits in the brain.