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排序方式: 共有338条查询结果,搜索用时 17 毫秒
1.
Lindsay Kennedy Parrish Louis J. Muglia 《The journal of maternal-fetal & neonatal medicine》2019,32(1):73-79
Purpose: the purpose of this study is to identify risk factors for familial, likely genetically-determined, preterm birth.Materials and methods: We performed a case–control study, enrolling 211 patients (103 cases and 108 controls). Cases delivered between 20 and 35 weeks gestation, with a prior preterm birth or first-degree relative born prematurely. Controls delivered between 37–42 weeks. Groups were compared using a comprehensive questionnaire validated by medical record. Multivariate logistic regression assessed risk factor associations.Results: Of cases, 30% reported bleeding during pregnancy compared with 5% of controls, adjusted odds ratio (adjOR) 9.0, 95%CI 3.31–24.47. Of cases that delivered at 20–28 weeks, 44.8% reported bleeding during pregnancy compared with 24.6% at 29–35 weeks, p?=?.04. Other associations were prior first-trimester miscarriage adjOR 2.55 (CI 1.21–5.35) or second-trimester miscarriage, adjOR 6.3 (CI 1.76–22.56).Conclusions: Bleeding during pregnancy and prior miscarriage were significantly associated with familial preterm birth. The magnitude of effect for bleeding in pregnancy was higher with earlier preterm births. These associations warrant further investigation. 相似文献
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Sarah Tosato Martina Zanoni Chiara Bonetto Federica Tozzi Clyde Francks Elisa Ira Simona Tomassi Mariaelena Bertani Dan Rujescu Ina Giegling David St Clair Michele Tansella Mirella Ruggeri Pierandrea Muglia 《Neuromolecular medicine》2014,16(4):742-751
Neuregulin 1 (NRG1) and v-erb-a erythroblastic leukemia viral oncogene homolog 4 (ErbB4) have been extensively studied in schizophrenia susceptibility because of their pivotal role in key neurodevelopmental processes. One of the reasons for the inconsistencies in results could be the fact that the phenotype investigated has mostly the diagnosis of schizophrenia per se, which is widely heterogeneous, both clinically and biologically. In the present study we tested, in a large cohort of 461 schizophrenia patients recruited in Scotland, whether several SNPs in NRG1 and/or ErbB4 are associated with schizophrenia symptom dimensions as evaluated by the Positive and Negative Syndrome Scale (PANSS). We then followed up nominally significant results in a second cohort of 439 schizophrenia subjects recruited in Germany. Using linear regression, we observed two different groups of polymorphisms in NRG1 gene: one showing a nominal association with higher scores of the PANSS positive dimension and the other one with higher scores of the PANSS negative dimension. Regarding ErbB4, a small cluster located in the 5′ end of the gene was detected, showing nominal association mainly with negative, general and total dimensions of the PANSS. These findings suggest that some regions of NRG1 and ErbB4 are functionally involved in biological processes that underlie some of the phenotypic manifestations of schizophrenia. Because of the lack of significant association after correction for multiple testing, our analyses should be considered as exploratory and hypothesis generating for future studies. 相似文献
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Antonio Cerasa Aldo Quattrone Fabrizio Piras Graziella Mangone Angela Magariello Sabrina Fagioli Paolo Girardi Maria Muglia Carlo Caltagirone Gianfranco Spalletta 《Social cognitive and affective neuroscience》2014,9(10):1537-1545
Genetic variants within the serotonin transporter gene (5-HTTLPR) impact the neurobiology and risk for anxiety-related behaviours. There are also gender differences in the prevalence of anxiety-related behaviours. Although numerous studies have investigated the influence of 5-HTTLPR genotype on the neural systems involved in emotional regulation, none have investigated how these effects are modulated by gender and anxiety. We investigated this issue using two complementary region of interest-based structural neuroimaging approaches (voxel-based morphometry and Freesurfer) in 138 healthy individuals categorized into ‘no anxiety’ and ‘subclinical anxiety’ groups based on the Hamilton Rating Scale for Anxiety (HAM-A). Preliminarily, using anxiety as a continuous variable, we found a significant interaction effect of genotype by gender on anxiety. Females homozygous for the Short allele showed the highest HAM-A scores and males the lowest. In addition, a three-way significant interaction among genotype, gender and anxiety category was found for the right amygdala volume. Post hoc tests revealed that homozygous females carrying the Short variant with a subclinical anxiety condition had larger volume. The reported interaction effects demonstrate that gender strongly modulates the relationship between 5-HTTLPR genotype and subclinical expression of anxiety acting on amygdala, one region of the emotional neural network specifically involved in the anxiety-like behaviours. 相似文献
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Infants born before term (<37 weeks) have an increased risk of neonatal mortality as well as other health problems. The increasing rate of preterm birth in recent decades, despite improvements in health care, creates an impetus to better understand and prevent this disorder. Preterm birth likely depends on a number of interacting factors, including genetic, epigenetic, and environmental risk factors. Genetic studies may identify markers, which more accurately predict preterm birth than currently known risk factors, or novel proteins and/or pathways involved in the disorder. This review summarizes epidemiological and genetic studies to date, emphasizing the complexity of genetic influences on birth timing. While several candidate genes have been reportedly associated with the disorder, inconsistency across studies has been problematic. More systematic and unbiased genetic approaches are needed for future studies to examine the genetic etiology of human birth timing thoroughly. 相似文献
6.
Marilia Henrique Destefani Jorge Elias Annelise Manzano Serra Negra Trazzi Plinio Prizon Kajiwara Aila Ferreira de Menezes Rodolfo Borges dos Reis Valdair Francisco Muglia 《Ultrasound in medicine & biology》2017,43(10):2167-2173
We correlated contrast-enhanced cross-sectional imaging and outcomes to assess the reproducibility of ultrasonographic criteria for renal minimally complex (MC) cysts. From 2003 to 2015, 143 cysts were described as complex or MC by ultrasound (US). After exclusions, 98 US studies were retrospectively evaluated and compared with computed tomography (CT)/magnetic resonance imaging (MRI). At sonography, 51 were MC cysts and 47 were complexes according to two independent observers. Inter-observer agreement for US was 0.704 and 0.745 for CT/MRI. Of 51 cysts classified as MC by US, 38 were Bosniak I/II and 6 were Bosniak IIF by CT/MRI. In 7, there were no cross-sectional images; however, they were stable for at least 2 y. Of 47 complex cysts, 9 were Bosniak II, 22 Bosniak IIF, 8 Bosniak III and 8 Bosniak IV. No Bosniak III/IV cysts by CT/MRI were classified as MC by US. Our results indicate that US offers reproducible criteria for MC cysts and may be used alone for these lesions. 相似文献
7.
Melinda G Arnett Lisa M Muglia Gloria Laryea Louis J Muglia 《Neuropsychopharmacology》2016,41(1):245-260
The normal function of the hypothalamic-pituitary-adrenal (HPA) axis, and resultant glucocorticoid (GC) secretion, is essential for human health. Disruption of GC regulation is associated with pathologic, psychological, and physiological disease states such as depression, post-traumatic stress disorder, hypertension, diabetes, and osteopenia, among others. As such, understanding the mechanisms by which HPA output is tightly regulated in its responses to environmental stressors and circadian cues has been an active area of investigation for decades. Over the last 20 years, however, advances in gene targeting and genome modification in rodent models have allowed the detailed dissection of roles for key molecular mediators and brain regions responsible for this control in vivo to emerge. Here, we summarize work done to elucidate the function of critical neuropeptide systems, GC-signaling targets, and inflammation-associated pathways in HPA axis regulation and behavior, and highlight areas for future investigation. 相似文献
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Kim HJ Zhao H Kitaura H Bhattacharyya S Brewer JA Muglia LJ Ross FP Teitelbaum SL 《The Journal of clinical investigation》2006,116(8):2152-2160
The pathogenesis of glucocorticoid-induced (GC-induced) bone loss is unclear. For example, osteoblast apoptosis is enhanced by GCs in vivo, but they stimulate bone formation in vitro. This conundrum suggests that an intermediary cell transmits a component of the bone-suppressive effects of GCs to osteoblasts in the intact animal. Bone remodeling is characterized by tethering of the activities of osteoclasts and osteoblasts. Hence, the osteoclast is a potential modulator of the effect of GCs on osteoblasts. To define the direct impact of GCs on bone-resorptive cells, we compared the effects of dexamethasone (DEX) on WT osteoclasts with those derived from mice with disruption of the GC receptor in osteoclast lineage cells (GRoc-/- mice). While the steroid prolonged longevity of osteoclasts, their bone-degrading capacity was suppressed. The inhibitory effect of DEX on bone resorption reflects failure of osteoclasts to organize their cytoskeleton in response to M-CSF. DEX specifically arrested M-CSF activation of RhoA, Rac, and Vav3, each of which regulate the osteoclast cytoskeleton. In all circumstances GRoc-/- mice were spared the impact of DEX on osteoclasts and their precursors. Consistent with osteoclasts modulating the osteoblast-suppressive effect of DEX, GRoc-/- mice are protected from the steroid's inhibition of bone formation. 相似文献