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1.
Medicine (Baltimore) ; 97(2): e9084, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29480822

RESUMO

Pituitary stalk interruption syndrome (PSIS) is associated with simultaneous or subsequent pituitary hormone deficiencies (PHDs). Although the clinical features of multiple PHDs are well known, the status of the thyrotrophic axis in PSIS has not been thoroughly investigated.The clinical data of 89 PSIS patients and 34 Sheehan syndrome (SS) patients were retrospectively analyzed.The prevalence of central hypothyroidism in the PSIS patients and the SS patients was 79.8% and 70.6%, respectively. The thyroid-stimulating hormone (TSH) levels in the PSIS patients were significantly higher in comparison with the SS patients (5.13 ±â€Š3.40 vs 1.67 ±â€Š1.20 mU/L, P < .05). TSH elevation (8.79 ±â€Š3.17 mU/L) was noticed in 29 of 71 (40.85%) hypothyroid PSIS patients but not in the 24 hypothyroid SS patients. The TSH levels in the hypothyroid PSIS patients were significantly higher in comparison with the euthyroid PSIS patients (5.42 ±â€Š3.67 vs 3.66 ±â€Š1.50 mU/L). Thyroid hormone replacement significantly reduced the TSH levels in the PSIS patients with elevated TSH levels from 7.24 ±â€Š0.98 to 1.67 ±â€Š1.51 mU/L (P < .05). The logistic regression analysis suggested that TSH level was not significantly associated with pituitary stalk status and height of the anterior pituitary gland.PSIS is a newly recognized cause of central hypothyroidism. The proportion and amplitude of TSH elevations are higher in PSIS than in other causes of central hypothyroidism.


Assuntos
Doenças da Hipófise/metabolismo , Tireotropina/metabolismo , Adulto , Feminino , Terapia de Reposição Hormonal , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Doenças da Hipófise/diagnóstico por imagem , Doenças da Hipófise/tratamento farmacológico , Doenças da Hipófise/epidemiologia , Hipófise/diagnóstico por imagem , Hipófise/efeitos dos fármacos , Hipófise/metabolismo , Prevalência , Estudos Retrospectivos , Tireotropina/administração & dosagem , Adulto Jovem
2.
J Cell Mol Med ; 21(12): 3626-3632, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28707430

RESUMO

Pituitary stalk interruption syndrome (PSIS) is a rare type of hypopituitarism manifesting various degrees of pituitary hormone deficiency. Although mutations have been identified in some familial cases, the underpinning mechanisms of sporadic patients with PSIS who are in a vast majority remain elusive, necessitating a comprehensive study using systemic approaches. We postulate that other genetic mechanisms may be responsible for the sporadic PSIS. To test this hypothesis, we conducted a study in 24 patients with PSIS of Han Chinese with no family history using whole-exome sequencing (WES) and bioinformatic analysis. We identified a group of heterozygous mutations in 92% (22 of 24) of the patients, and these genes are mostly associated with Notch, Shh, Wnt signalling pathways. Importantly, 83% (20 of 24) of the patients had more than one mutation in those pathways suggesting synergy of compound mutations underpin the pathogenesis of sporadic PSIS.


Assuntos
Genoma Humano , Proteínas Hedgehog/genética , Hipopituitarismo/genética , Mutação , Hormônios Hipofisários/genética , Receptores Notch/genética , Proteínas Wnt/genética , Adolescente , Adulto , Grupo com Ancestrais do Continente Asiático , Criança , Biologia Computacional , Feminino , Expressão Gênica , Proteínas Hedgehog/metabolismo , Humanos , Hipopituitarismo/etnologia , Hipopituitarismo/metabolismo , Hipopituitarismo/patologia , Masculino , Hipófise/anormalidades , Hipófise/metabolismo , Hormônios Hipofisários/deficiência , Receptores Notch/metabolismo , Transdução de Sinais , Síndrome , Sequenciamento Completo do Genoma , Proteínas Wnt/metabolismo
3.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 38(5): 534-538, 2016 10 10.
Artigo em Inglês | MEDLINE | ID: mdl-27825409

RESUMO

Objective To analyze the clinical characteristics of pituitary stalk interruption syndrome(PSIS). Methods The clinical data including clinical manifestations,laboratory tests,and imaging findings of 114 PSIS patients in our hospital were retrospectively analyzed. Results Of these 114 PSIS patients,102 cases (89.4%) were male. The average age was 21.1?6.1 years. A history of breech delivery was documented in 91 cases (91.9%). Short stature was found in 89 cases (71.8%) and bone age delayed (6.1?5.1) years. Secondary sex characteristics were poor or undeveloped in most patients. The prevalence of deficiencies in growth hormone,gonadotropins,corticotropin,and thyrotropin were 100.0%,94.0%,84.2%,and 74.6%,respectively. Hyperprolactinemia was found in 28.1% of patients. Three or more pituitary hormone abnormalities were found in 105 cases(92.1%). Compared with the 5 cases with history of cephalic delivery,no difference were found in the aspects of height(t=0.297,P=0.634),penile length(t=1.205,P=0.882),testicular volume (U=99.000,P=0.348),growth hormone peak (U=89.000,P=0.186),adrenocorticotropic hormone peak(U=131.000,P=0.967),luteinizing hormone peak(U=98.500,P=0.582),thyroid-stimulating hormone (U=82.000,P=0.162),and the height of anterior pituitary (t=1.676,P=0.107) in the 53 cases with history of breech delivery. Conclusions The clinical manifestations,symptoms,hormone deficiencies were severe in our series. The condition severities were not remarkably different in patients with different delivery ways.


Assuntos
Doenças da Hipófise/fisiopatologia , Hipófise/patologia , Adolescente , Adulto , Nanismo/etiologia , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Doenças da Hipófise/complicações , Prevalência , Estudos Retrospectivos , Adulto Jovem
4.
Int J Endocrinol ; 2016: 1896285, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27190512

RESUMO

Objective. We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications. Design and Methods. In this study, initial height, final height, total height gain, and GH treatment history were retrospectively investigated in 75 Chinese PSIS patients. We compared height gain between the GH treated cohort and untreated cohort and explored the impact of different GH therapy duration on height gain. Results. For GH treated patients, their final height (SDS) increased from -1.99 ± 1.91 (-6.93~2.80) at bone age (BA) of 11.2 (5.0~17.0) years to -1.47 ± 1.64 (-7.82~1.05) at BA of 16.6 (8.0~18.0) years (P = 0.016). And GH treated patients had more height gain than the untreated patients (P < 0.05). There was a significant difference between the different GH therapy duration groups (P = 0.001): GH 0 versus GH 3, P = 0.000; GH 1 versus GH 3, P = 0.028; GH 2 versus GH 3, P = 0.044. Conclusion. Adult Chinese PSIS patients with short stature benefited the most from at least 12 months of GH therapy. Although patient diagnosis age was lagged behind in the developing countries, GH treatment was still effective for them and resulted in a higher final height and more height gain.

5.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 38(1): 37-41, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26956854

RESUMO

OBJECTIVE: To analyze the correlation between pituitary stalk interruption syndrome (PSIS) and prokineticin receptor 2 (PROKR2) and prokineticin 2 (RROK2) mutations. METHODS: PROKR2 and RROK2 genotypes were identified by multiplex polymerase chain reaction analysis with exon-flanking primers and by automated sequencing techniques with peripheral blood DNA samples from 59 patients with PSIS. RESULTS: Of these 59 PSIS patients, 6 showed intragenic deletions at the PROKR2 locus. Of them, 5 patients exhibited intragenic subsititution of exon 2 (c.991G>A), and the remaining one patient exhibited intragenic subsititution of exon 2 (c.1057C>T). No PROK2 mutation was found in these PSIS patients. CONCLUSION: PROKR2 may be the susceptibility gene of PSIS.


Assuntos
Mutação , Doenças da Hipófise , Éxons , Hormônios Gastrointestinais , Genótipo , Humanos , Neuropeptídeos , Receptores Acoplados a Proteínas-G , Receptores de Peptídeos
6.
Nan Fang Yi Ke Da Xue Xue Bao ; 35(10): 1451-6, 2015 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-26547340

RESUMO

OBJECTIVE: To observe the direct regulation of miR-127 on Bcl-6 and the effect of Bcl-6 in rescuing miR-127-induced cell cycle and cell growth inhibition. METHODS: The 3'UTR and coding region of human bcl-6 gene were amplified by PCR and cloned into pcDNA3.0-Luc and pcDNA3.0-Flag vectors, respectively. Mutations were introduced into the seed sequences of the predicted miR-127 target sites within the Bcl-6 3'UTR using recombinant PCR. Luciferase assay was used to verify the direct targeted regulation of miR-127 on Bcl-6. In HepG2 cell models with overexpression or knockdown of miR-12, the changes of cell cycle and cell growth were investigated after transfection with the constructed vectors. RESULTS: The recombinant plasmids were successfully obtained as confirmed by double digestion and sequence identification. Luciferase assay showed that in 293T and HepG2 cells, miR-127 inhibited the activation of wild-type Bcl-6 3'UTR reporter vector but not mutated Bcl-6 3'UTR vector. Overexpression of miR-127 induced cell cycle arrest at G(2)/M phase and suppressed the growth of HepG2 cells, and these effects were reversed by Bcl-6 overexpression. CONCLUSION: We successfully cloned wild-type and mutated 3'UTR reporter vectors and expression vector of bcl-6 gene and confirmed their biological functions.


Assuntos
Regiões 3' não Traduzidas , Proteínas de Ligação a DNA/genética , Vetores Genéticos , MicroRNAs/genética , Ciclo Celular , Proliferação de Células , Genes Reporter , Células Hep G2 , Humanos , Luciferases , Proteínas Proto-Oncogênicas c-bcl-6 , Transfecção
7.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi ; 28(3): 251-4, 2012 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-22394631

RESUMO

AIM: To clone prokaryotic expression vector of Cdc25C, purify the fusion protein of GST-Cdc25C, and identify its function preliminarily. METHODS: Human Cdc25C coding region was amplified from human mammary cDNA library by PCR, and cloned into the prokaryotic expression vector pGEX-KG. The fusion protein GST-Cdc25C was expressed in E.coli Rossate and purified by GST-Sepharose 4B beads. The function of purified GST-Cdc25C was identified by GST pull-down assay. RESULTS: The GST-Cdc25C recombinant plasmid was successfully obtained by double digestion identification. The inserted fragment was confirmed correctly by sequencing. SDS-PAGE and Western blot analysis showed that the fusion protein was expressed. The fusion protein of about M(r); 80 000 was successfully induced, and identified by SDS-PAGE and Western blot analysis. GST pull-down assay showed that GST-Cdc25C could interact with Chk2 which verified its known function. CONCLUSION: Cdc25C was successfully cloned and purified.


Assuntos
Escherichia coli/genética , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/metabolismo , Fosfatases cdc25/genética , Fosfatases cdc25/metabolismo , Clonagem Molecular , Expressão Gênica , Humanos , Plasmídeos/genética , Proteínas Recombinantes de Fusão/isolamento & purificação , Fosfatases cdc25/isolamento & purificação
8.
Nan Fang Yi Ke Da Xue Xue Bao ; 31(9): 1493-7, 2011 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-21945751

RESUMO

OBJECTIVE: To investigate whether progesterone receptor B (PRB) can be sumoylated by SUMO-2/3 and the effect of sumoylation on PRB transcriptional activity. METHODS: SUMO-2/3 cDNA was amplified from MCF-7 cDNA and cloned into the eukaryotic expression vector pcDNA3-FLAG. The plasmid pXJ40-myc-PRB was cotransfected with pcDNA3FLAG-SUMO2, pcDNA3FLAG-SUMO3 or the mock control into 293T cells, and PRB sumoylation was detected by immunoprecipitation and Western blotting. The effect of PRB sumoylation on its transcriptional activity was determined using reporter luciferase assay. RESULTS: pcDNA3FLAG-SUMO2 and pcDNA3FLAG-SUMO3 vectors were successfully constructed. SUMO-2/3 could bind covalently to PRB and increase its transcriptional dependent on the presence of progesterone. CONCLUSION: PRB can be sumoylated by SUMO-2/3 and its function is regulated by this modification.


Assuntos
Receptores de Progesterona/genética , Proteínas Modificadoras Pequenas Relacionadas à Ubiquitina/genética , Ubiquitinas/genética , Animais , Linhagem Celular , Humanos , Plasmídeos/genética , Receptores de Progesterona/metabolismo , Proteínas Modificadoras Pequenas Relacionadas à Ubiquitina/metabolismo , Transcrição Genética , Transfecção , Ubiquitinação , Ubiquitinas/metabolismo
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