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排序方式: 共有103条查询结果,搜索用时 46 毫秒
1.
Pietro Cavalli Daniela Giardino Giulietta Gottardi Federica Natacci Salvatore Savasta Lidia Larizza 《American journal of medical genetics. Part A》2001,104(2):157-164
We describe the case of a 15‐year‐old girl with multiple congenital anomalies, dysmorphic features, severe kyphoscoliosis, growth and mental retardation, and the absence of speech, in whom 35% of the cells carried a supernumerary ring chromosome 1. Fluorescence in situ hybridization (FISH) analysis using YAC/BAC clones spanning the region from 1p13 to 1q21 made it possible to determine the genomic content and structure of the ring(1), which was found to consist of the cytogenetic bands 1q21–22. A complex structure was delineated in the ring chromosome with a partial inverted duplication delimited by markers WI‐7732 and WI‐607, with WI‐7396 and WI‐8386 being the boundaries of the single copy segment. Comparison of the clinical signs of other patients with mosaic r(1) reported in the literature allowed the identification of a patient sharing a number of clinical signs including cataracts. Given that mutations of the GJA8 gene encoding connexin 50 (Cx50) and mapping to 1q21 have been associated with the presence of cataracts, it is possible that a gain in copy number or a rearrangement of GJA8 may contribute to cataractogenesis. 相似文献
2.
Di Benedetto G Zoccarato A Lissandron V Terrin A Li X Houslay MD Baillie GS Zaccolo M 《Circulation research》2008,103(8):836-844
Protein kinase A (PKA) is a key regulatory enzyme that, on activation by cAMP, modulates a wide variety of cellular functions. PKA isoforms type I and type II possess different structural features and biochemical characteristics, resulting in nonredundant function. However, how different PKA isoforms expressed in the same cell manage to perform distinct functions on activation by the same soluble intracellular messenger, cAMP, remains to be established. Here, we provide a mechanism for the different function of PKA isoforms subsets in cardiac myocytes and demonstrate that PKA-RI and PKA-RII, by binding to AKAPs (A kinase anchoring proteins), are tethered to different subcellular locales, thus defining distinct intracellular signaling compartments. Within such compartments, PKA-RI and PKA-RII respond to distinct, spatially restricted cAMP signals generated in response to specific G protein-coupled receptor agonists and regulated by unique subsets of the cAMP degrading phosphodiesterases. The selective activation of individual PKA isoforms thus leads to phosphorylation of unique subsets of downstream targets. 相似文献
3.
4.
Cesare Aragona Antonella Linari Giulietta Micara Daniela Tranquilli Agnese Maria Lourdes Gambaro Maria Salome Bezerra Espinola 《Gynecological endocrinology》2016,32(5):370-373
The aim of the study is to demonstrate the successful use of “Hour 1” transfer of sperm microinjected oocytes in natural cycles of poor responder women. Seventy women were selected from 92 consecutive poor responders undergoing intracytoplasmatic sperm injection (ICSI) in a natural cycle at our Sterility and Assisted Reproduction Unit from September 2009 to July 2013, and randomly distributed in two homogeneous groups: Group A or B. Women in Group A (35) underwent transfer within 1 h after ICSI; Group B (35, control group) underwent transfer 3 days after ICSI. In Group A, seven clinical pregnancy and one miscarriage occurred; in Group B, eight clinical pregnancies and two miscarriages were observed. Pregnancy, miscarriage, term pregnancy and overall live birth rates’ difference between the two groups was not statistically significant (p?>?0.05). Difference between the two groups in terms of timing, type of delivery and newborn birthweight was not observed. Neither ectopic pregnancy nor multiple pregnancies occurred. “Hour 1” uterine transfer of ICSI oocytes, still to be considered with caution because of the relatively low number of observations of the pilot study, deserves further attention on a larger scale, and might be evaluated for clinical and financial effectiveness in other clinical settings. 相似文献
5.
Pacchiarotti A Mohamed MA Micara G Linari A Tranquilli D Espinola SB Aragona C 《Journal of assisted reproduction and genetics》2007,24(10):459-462
Purpose To evaluate the effect of the hyperhomocysteinemia on pregnancy rate, implantation rate and abortion rate after IVF.
Method Data from a total of 48 infertile couples with hyperhomocysteinemia were prospectively collected for this study. All patients
underwent a standard down regulation protocol for ovarian stimulation. Oocytes recovery was performed at 36 h after hCG administration.
Embryo transfer took place at 48 h after insemination. The patients were matched in two groups that received or did not receive
therapy (group A and B respectively) to normalize homocysteine plasma level.
Results Pregnancy rate, implantation rate and abortion rate varied significantly (p ≤ 0.05) between the two groups. The number and quality of embryos transferred did not differ between the groups.
Conclusion The results suggest that hyperhomocysteinemia could affect IVF outcome 相似文献
6.
Benedetta Masserini Maria Francesca Bedeschi Vera Bianchi Giulietta Scuvera Paolo Beck‐Peccoz Faustina Lalatta Angelo Selicorni Emanuela Orsi 《American journal of medical genetics. Part A》2013,161(4):817-821
Williams syndrome (WS) is a rare, multisystemic genomic disorder showing a high prevalence of impaired glucose metabolism in adulthood. The reason for this association is unknown, though hemizygosity for genes mapping to the WS chromosome region has been implicated. Twenty‐two Italian young adults with WS (13 females, 9 males) were studied. A 75 g oral glucose tolerance test (OGTT) was performed and β‐cell function was estimated with Homeostasis Model Assessment (HOMA)‐B%, Insulinogenic Index, and corrected insulin response whereas insulin sensitivity was assessed with HOMA‐Insulin Resistance Index, Quantitative Insulin Check Index, and composite Insulin Sensitivity Index. One patient had known diabetes mellitus (DM), whereas impaired glucose tolerance (IGT) was diagnosed in 12 patients and DM in one (63.6% prevalence of impaired glucose metabolism). IGT patients were more insulin resistant than those with normal glucose tolerance (NGT), whereas β‐cell function was unchanged or increased. Islet autoimmunity was absent. Logistic regression showed that impaired glucose metabolism was not associated with age, body mass index (BMI), or family history of DM. β‐cell function, insulin sensitivity, and post‐load insulin levels did not differ between WS patients with NGT and healthy controls comparable for gender, age, and BMI, though WS–NGT patients had higher post‐load glucose values. These data confirm the high prevalence of impaired glucose metabolism in WS young adults, thus suggesting the need for screening these patients with OGTT. IGT is associated with reduced insulin sensitivity, but not with impaired β‐cell function, islet autoimmunity, and traditional risk factors for type 2 DM. © 2013 Wiley Periodicals, Inc. 相似文献
7.
Maria Grazia Benedetti Annalisa Di Gioia Linda Conti Lisa Berti Degli Linda Esposti Giulietta Tarrini Nazario Melchionda Sandro Giannini 《Journal of neuroengineering and rehabilitation》2009,6(1):47-9
Background
Obesity is a major problem especially in western countries and several studies underline the importance of physical activity to enhance diet. Currently there is increasing interest in instruments for monitoring daily physical activity. The purpose of this pilot study was to appraise the qualitative and quantitative differences in physical activities and gait analysis parameters in control and obese subjects by means of an innovative tool for the monitoring of physical activity. 相似文献8.
C-reactive protein and interleukin-6 levels are related to renal function in predialytic chronic renal failure 总被引:17,自引:0,他引:17
Panichi V Migliori M De Pietro S Taccola D Bianchi AM Giovannini L Norpoth M Metelli MR Cristofani R Bertelli AA Sbragia G Tetta C Palla R Colombo R 《Nephron》2002,91(4):594-600
BACKGROUND: Several studies have provided convincing evidence that in apparently healthy subjects elevated serum levels of plasma C-reactive protein (CRP) are associated with an increased risk of experiencing myocardial infarction and sudden cardiac death. It has been claimed that, in dialytic patients, the hepatic synthesis of this 'acute phase response' plasma protein is primarily induced by the macrophage-derived interleukin 6 (IL-6). Little information is available, however, regarding CRP and IL-6 plasma levels in pre-dialytic renal failure. METHODS: Plasma CRP by a modification of the laser nephelometry technique, IL-6 and serum albumin were determined in 103 chronic pre-dialytic patients (mean age 50 +/- 6.3 years; creatinine clearance (Cr.cl.) 36.3 +/- 23.1 ml/min). RESULTS: CRP was >5 mg/l (normal upper range) in 42% of the global population. CRP and IL-6 were significantly related (r = 0.35, p < 0.0004). CRP and IL-6 were related to renal function (CRP vs. Cr.cl., r = -0.56, p < 0.0001; IL-6 vs. Cr.cl., r = -0.55, p < 0.0001, Spearman correlation coefficient). When patients were divided in tertiles according to renal function, CRP median value resulted 7.9 mg/l (interquartile interval: 5-12) in the first tertile (Cr.cl. <18.5 ml/min), 4.0 mg/l (3-6) in the second tertile (Cr.cl. 18.5-45 ml/min) and 3.2 mg/l (2.7-4.0) in the last tertile (Cr.cl. >45 ml/min) (p < 0.0001). A negative correlation between CRP and S-albumin was also found (r = -0.52, p < 0.0001, Spearman correlation coefficient). CONCLUSIONS: IL-6 and CRP were increased and were inversely related to creatinine clearance in our population of 103 chronic predialytic patients. The possibility of a decreased renal clearance of CRP and/or cytokines as a cause of an activated acute-phase response is discussed. A negative correlation between CRP and S-albumin was found confirming the link between chronic inflammation and malnutrition in chronic renal patients. 相似文献
9.
Giovanni Faggioni PhD Riccardo De Santis PhD Alice Pomponi PhD Antonella Grottola LS Giulia Fregni Serpini LS Marisa Meacci LS William Gennari LS Sara Tagliazucchi LS Monica Pecorari LS Federica Monaco LS Giovanni Savini PhD Eleonora Benedetti LS Maria Elena Remoli LS Claudia Fortuna LS Giulietta Venturi LS Giovanni Rezza MD Florigio Lista MD 《Journal of medical virology》2018,90(10):1666-1668
A collection of 3069 human sera collected in the area of the municipality of Modena, Emilia Romagna, Italy, was retrospectively investigated for specific antibodies against Usutu (USUV) and West Nile viruses (WNV). All the samples resulting positive using a preliminary screening test were analyzed with the plaque reduction neutralization test. Overall, 24 sera were confirmed as positive for USUV (0.78%) and 13 for WNV (0.42%). The results suggest that in 2012, USUV was circulating more than WNV in North‐eastern Italy. 相似文献
10.
Andrea Coluccio Francesca Miselli Angelo Lombardo Alessandra Marconi Guidantonio Malagoli Tagliazucchi Manuel A Gonçalves Carlo Pincelli Giulietta Maruggi Marcela Del Rio Luigi Naldini Fernando Larcher Fulvio Mavilio Alessandra Recchia 《Molecular therapy》2013,21(9):1695-1704
Preclinical and clinical studies showed that autologous transplantation of epidermis derived from genetically modified epithelial stem cells (EpSCs) leads to long-term correction of inherited skin adhesion defects. These studies were based on potentially genotoxic retroviral vectors. We developed an alternative gene transfer strategy aimed at targeting a “safe harbor” locus, the adeno-associated virus integration site 1 (AAVS1), by zinc-finger nuclease (ZFN)-induced homologous recombination (HR). Delivery of AAVS1-specific ZFNs and a GFP-expressing HR cassette by integration-defective lentiviral (LV) vectors (IDLVs) or adenoviral (Ad) vectors resulted in targeted gene addition with an efficiency of >20% in a human keratinocyte cell line, >10% in immortalized keratinocytes, and <1% in primary keratinocytes. Deep sequencing of the AAVS1 locus showed that ZFN-induced double-strand breaks are mostly repaired by nonhomologous end joining (NHEJ) in primary cells, indicating that poor induction of the HR-dependent DNA repair pathway may be a significant limitation for targeted gene integration. Skin equivalents derived from unselected keratinocyte cultures coinfected with a GFP-IDLV and a ZFN-Ad vector were grafted onto immunodeficient mice. GFP-positive clones were observed in all grafts up to 18 weeks post-transplantation. By histological and molecular analysis, we were able to demonstrate highly efficient targeting of the AAVS1 locus in human repopulating EpSCs. 相似文献