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排序方式: 共有6195条查询结果,搜索用时 15 毫秒
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Functional studies and rare variant screening of SLC1A1/EAAC1 in males with obsessive-compulsive disorder 总被引:1,自引:0,他引:1
Veenstra-Vanderweele J Xu T Ruggiero AM Anderson LR Jones ST Himle JA Kennedy JL Richter MA Hanna GL Arnold PD 《Psychiatric genetics》2012,22(5):256-260
Several studies have found that the neuronal glutamate transporter gene SLC1A1/EAAC1 is associated with obsessive-compulsive disorder (OCD), with a stronger association in males. Previous studies have primarily focused on common single-nucleotide polymorphisms, rather than rare functional variants that are likely to have larger effects. We screened 184 males with OCD for rare variation in SLC1A1 exons; however, no new coding variation was found. When combined with previous screens, only one SLC1A1 amino acid variant has been detected among the 841 individuals screened, which is less than for other neurotransmitter transporter genes (P=0.0001). We characterized the function of the one SLC1A1 missense variant reported previously in OCD, Thr164Ala, and found that the Ala164 allele leads to decreased Vmax and Km (P<0.0001) in transfected human embryonic kidney cells. Further work will be necessary to understand the impact of this rare SLC1A1/EAAC1 Ala164 variant on neuronal function and circuitry relevant to OCD. 相似文献
93.
Cylie M Williams Alicia M James Ton Tran 《Journal of paediatrics and child health》2013,49(9):E428-E433
Metatarsus adductus (MA) occurs in one to two cases per 1000 births and is the most common congenital foot deformity in newborns. The appearance is that of a curved or adducted forefoot with a normal hindfoot. A systematic literature review was conducted to answer the following question: For a child who presents with MA, what is the most evidence‐based conservative treatment option? Thirteen articles were reviewed using the National Health and Medical Research Council levels of evidence and guidelines for clinical practice. Conservative treatment options reported on included the following: no treatment, stretching, splinting, serial casting, sitting and sleeping positions and footwear/orthotics. There was strong evidence supporting no treatment in the case of flexible MA. Some limited evidence was found for the treatment of semi‐rigid MA. Clinicians should use these recommendations together with clinical experience when advising parents on treatment of MA. 相似文献
94.
Inter-cycle and inter-observer variability of the antral follicle count in routine clinical practice
Jessica Subirá Jose Alberola-Rubio María Jose Núñez Alicia Marzal Escrivá Antonio Pellicer Vicente Montañana 《Gynecological endocrinology》2017,33(7):515-518
Antral follicle count (AFC) is a reliable predictor of ovarian response to stimulation and its inter-cycle and inter-observer variability has been extensively studied on in vitro fertilization (IVF), mostly in highly selected populations within studies not originally designed for this purpose. In this retrospective cohort study, we assess the inter-cycle variation of AFC in a setting similar to that of the daily practice. We included only patients undergoing mild stimulation for intrauterine insemination (IUI). One hundred and forty-eight patients had two (62 patients, group A), three (49 patients, group B) or four (37 patients, group C) IUI cycles and AFC was measured on early follicular phase of each cycle by one of the members of the medical team within daily practice. Intra-class correlation coefficients were used to estimate variability. Inter-cycle variability rendered ICCs above 0.70 in all groups improving along with the number of cycles [Group A ICC 0.78 (95%CI 0.66–0.86), Group B ICC 0.87 (95%CI 0.80–0.92) and Group C ICC 0.91 (95%CI 0.85–0.95)]. Inter-observer variability showed a high degree of concordance with ICCs above 0.95. We provide the closest approximation to real inter-cycle and inter-observer AFC variability expected in routine clinical practice. 相似文献
95.
Agustín Ibá?ez Jaume Aguado Sandra Baez David Huepe Vladimir Lopez Rodrigo Ortega Mariano Sigman Ezequiel Mikulan Alicia Lischinsky Fernando Torrente Marcelo Cetkovich Teresa Torralva Tristan Bekinschtein Facundo Manes 《Social cognitive and affective neuroscience》2014,9(7):939-950
It is commonly assumed that early emotional signals provide relevant information for social cognition tasks. The goal of this study was to test the association between (a) cortical markers of face emotional processing and (b) social-cognitive measures, and also to build a model which can predict this association (a and b) in healthy volunteers as well as in different groups of psychiatric patients. Thus, we investigated the early cortical processing of emotional stimuli (N170, using a face and word valence task) and their relationship with the social-cognitive profiles (SCPs, indexed by measures of theory of mind, fluid intelligence, speed processing and executive functions). Group comparisons and individual differences were assessed among schizophrenia (SCZ) patients and their relatives, individuals with attention deficit hyperactivity disorder (ADHD), individuals with euthymic bipolar disorder (BD) and healthy participants (educational level, handedness, age and gender matched). Our results provide evidence of emotional N170 impairments in the affected groups (SCZ and relatives, ADHD and BD) as well as subtle group differences. Importantly, cortical processing of emotional stimuli predicted the SCP, as evidenced by a structural equation model analysis. This is the first study to report an association model of brain markers of emotional processing and SCP. 相似文献
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97.
María Julia Lamberti Natalia Belén Rumie Vittar Viviana Alicia Rivarola 《World journal of clinical oncology》2014,5(5):901-907
Photodynamic therapy is a minimally invasive and clinically approved procedure for eliminating selected malignant cells with specific light activation of a photosensitizer agent. Whereas interstitial and intra-operative approaches have been investigated for the ablation of a broad range of superficial or bulky solid tumors such as breast cancer, the majority of approved photodynamic therapy protocols are for the treatment of superficial lesions of skin and luminal organs. This review article will discuss recent progress in research focused mainly on assessing the efficacies of various photosensitizers used in photodynamic therapy, as well as the combinatory strategies of various therapeutic modalities for improving treatments of parenchymal and/or stromal tissues of breast cancer solid tumors. Cytotoxic agents are used in cancer treatments for their effect on rapidly proliferating cancer cells. However, such therapeutics often lack specificity, which can lead to toxicity and undesirable side effects. Many approaches are designed to target tumors. Selective therapies can be established by focusing on distinctive intracellular (receptors, apoptotic pathways, multidrug resistance system, nitric oxide-mediated stress) and environmental (glucose, pH) differences between tumor and healthy tissue. A rational design of effective combination regimens for breast cancer treatment involves a better understanding of the mechanisms and molecular interactions of cytotoxic agents that underlie drug resistance and sensitivity. 相似文献
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99.
Coyle TE Bair AK Stein C Vajpayee N Mehdi S Wright J 《American journal of hematology》2005,78(4):256-260
Valproic acid has been previously associated with hematologic toxicity, including a reversible myelodysplasia-like syndrome without chromosomal abnormalities. We now report three cases of acute leukemia with features of secondary leukemia associated with valproic acid therapy: two cases of acute myelogenous leukemia with multilineage dysplasia, one with trisomy 8 and one with monosomy 7, and one case of secondary acute lymphoblastic leukemia with del (7) (q22q34), del (9) (q21.11q22), del (11) (q12q23). One patient had a previous myelodysplastic syndrome while on valproic acid. Valproic acid has been previously shown to be a histone deacetylase inhibitor. Inhibition of histone deacetylase causes a relaxation of chromatin structure and thus increases susceptibility to DNA damage and sensitizes cells to radiation. We propose that valproic acid therapy may lead to secondary leukemia by increasing DNA damage through chronic inhibition of histone deacetylase. 相似文献
100.