BBA clinical最新文献

{"title":"Clinical significance of serum Protease-Activated Receptor-1 (PAR-1) levels in patients with cutaneous melanoma","authors":"Faruk Tas,&nbsp;Elif Bilgin,&nbsp;Senem Karabulut,&nbsp;Kayhan Erturk,&nbsp;Derya Duranyildiz","doi":"10.1016/j.bbacli.2016.04.001","DOIUrl":"10.1016/j.bbacli.2016.04.001","url":null,"abstract":"<div><h3>Background</h3><p>Protease-Activated Receptor-1 (PAR-1) plays an important role in the pathogenesis of multiple malignancies and its expression strongly also affects the outcomes of cancer patients. The objective of this study was to determine the clinical significance of the serum levels of PAR-1in cutaneous melanoma patients.</p></div><div><h3>Methods</h3><p>A total of 60 patients with a pathologically confirmed diagnosis of cutaneous melanoma were enrolled into this study. Serum PAR-1concentrations were determined by the solid-phase sandwich ELISA method.</p></div><div><h3>Results</h3><p>No significant difference in serum PAR-1 levels between melanoma patients and healthy controls was found (p<!--> <!-->=<!--> <!-->0.07). The known clinical variables including age of patient, gender, site of lesion, histology, stage of disease, serum LDH levels and chemotherapy responsiveness were not correlated with serum PAR-1 concentrations (p<!--> <!-->&gt;<!--> <!-->0.05). Likewise, serum PAR-1 concentration had also no prognostic role on survival (p<!--> <!-->=<!--> <!-->0.41).</p></div><div><h3>Conclusion</h3><p>Serum levels of PAR-1 have no diagnostic, predictive and prognostic roles in cutaneous melanoma patients.</p></div><div><h3>General significance</h3><p>Measurement of PAR-1 in serum is not a clinical significance in cutaneous melanoma patients.</p></div>","PeriodicalId":72344,"journal":{"name":"BBA clinical","volume":"5 ","pages":"Pages 166-169"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbacli.2016.04.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34450911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TCF7L2 polymorphism is associated with low nitric oxide release, endothelial dysfunction and enhanced inflammatory response after myocardial infarction","authors":"Riobaldo Cintra ,&nbsp;Filipe A. Moura ,&nbsp;Luiz S.F. Carvalho ,&nbsp;Mauricio Daher ,&nbsp;Simone N. Santos ,&nbsp;Ana P.R. Costa ,&nbsp;Valeria N. Figueiredo ,&nbsp;Joalbo M. Andrade ,&nbsp;Francisco A.R. Neves ,&nbsp;Jose C. Quinaglia e Silva ,&nbsp;Andrei C. Sposito ,&nbsp;on behalf of the Brasília Heart Study Group","doi":"10.1016/j.bbacli.2016.03.010","DOIUrl":"10.1016/j.bbacli.2016.03.010","url":null,"abstract":"<div><h3>Backgound</h3><p>The favorable effects of insulin during myocardial infarction (MI) remain unclear due to the divergence between mechanistic studies and clinical trials of exogenous insulin administration. The rs7903146 polymorphism of the <em>transcription factor 7-like 2</em> (TCF7L2) gene is associated with attenuated insulin secretion.</p></div><div><h3>Methods</h3><p>In non-diabetic patients with ST-elevation MI (STEMI), using such a model of genetically determined down-regulation of endogenous insulin secretion we investigated the change in plasma insulin, C-peptide, interleukin-2 (IL-2), C-reactive protein (CRP), and nitric oxide (NOx) levels between admission (D1) and the fifth day after MI (D5). Coronary angiography and flow-mediated dilation (FMD) were performed at admission and 30<!--> <!-->days after MI, respectively. Homeostasis Model Assessment estimated insulin secretion (HOMA2%β) and insulin sensitivity (HOMA2%S).</p></div><div><h3>Results</h3><p>Although glycemia did not differ between genotypes, carriers of the T-allele had lower HOMA2%β and higher HOMA2%S at both D1 and D5. As compared with non-carriers, T-allele carriers had higher plasma IL-2 and CRP at D5, higher intracoronary thrombus grade, lower FMD and NOx change between D1 and D5 and higher 30-day mortality.</p></div><div><h3>Conclusion</h3><p>In non-diabetic STEMI patients, the rs7903146 <em>TCF7L2</em> gene polymorphism is associated with lower insulin secretion, worse endothelial function, higher coronary thrombotic burden, and higher short-term mortality.</p></div><div><h3>General significance</h3><p>During the acute phase of MI, a lower capacity of insulin secretion may influence clinical outcome.</p></div>","PeriodicalId":72344,"journal":{"name":"BBA clinical","volume":"5 ","pages":"Pages 159-165"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbacli.2016.03.010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34510046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Implication of hepatokines in metabolic disorders and cardiovascular diseases","authors":"Tae Woo Jung,&nbsp;Hye Jin Yoo,&nbsp;Kyung Mook Choi","doi":"10.1016/j.bbacli.2016.03.002","DOIUrl":"10.1016/j.bbacli.2016.03.002","url":null,"abstract":"<div><p>The liver is a central regulator of systemic energy homeostasis and has a pivotal role in glucose and lipid metabolism. Impaired gluconeogenesis and dyslipidemia are often observed in patients with nonalcoholic fatty liver disease (NAFLD). The liver is now recognized to be an endocrine organ that secretes hepatokines, which are proteins that regulate systemic metabolism and energy homeostasis. Hepatokines are known to contribute to the pathogenesis of metabolic syndrome, NAFLD, type 2 diabetes (T2DM), and cardiovascular diseases (CVDs). In this review, we focus on the roles of two major hepatokines, fetuin-A and fibroblast growth factor 21 (FGF21), as well as recently-redefined hepatokines, such as selenoprotein P, angiopoietin-like protein 4 (ANGPTL4), and leukocyte cell-derived chemotaxin 2 (LECT2). We also assess the biology and molecular mechanisms of hepatokines in the context of their potential as therapeutic targets for metabolic disorders and cardiovascular diseases.</p></div>","PeriodicalId":72344,"journal":{"name":"BBA clinical","volume":"5 ","pages":"Pages 108-113"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbacli.2016.03.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54181278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The mTOR pathway in obesity driven gastrointestinal cancers: Potential targets and clinical trials","authors":"Cian O. Malley,&nbsp;Graham P. Pidgeon","doi":"10.1016/j.bbacli.2015.11.003","DOIUrl":"10.1016/j.bbacli.2015.11.003","url":null,"abstract":"<div><p>The mechanistic target of rapamycin (mTOR) is a crucial point of convergence between growth factor signalling, metabolism, nutrient status and cellular proliferation. The mTOR pathway is heavily implicated in the progression of many cancers and is emerging as an important driver of gastrointestinal (GI) malignancies. Due to its central role in adapting metabolism to environmental conditions, mTOR signalling is also believed to be critical in the development of obesity. Recent research has delineated that excessive nutrient intake can promote signalling through the mTOR pathway and possibly evoke changes to cellular metabolism that could accelerate obesity related cancers. Acting through its two effector complexes mTORC1 and mTORC2, mTOR dictates the transcription of genes important in glycolysis, lipogenesis, protein translation and synthesis and has recently been defined as a central mediator of the Warburg effect in cancer cells. Activation of the mTOR pathway is involved in both the pathogenesis of GI malignancies and development of resistance to conventional chemotherapy and radiotherapy. The use of mTOR inhibitors is a promising therapeutic option in many GI malignancies, with greatest clinical efficacy seen in combination regimens. Recent research has also provided insight into crosstalk between mTOR and other pathways which could potentially expand the list of therapeutic targets in the mTOR pathway. Here we review the available strategies for targeting the mTOR pathway in GI cancers. We discuss current clinical trials of both established and novel mTOR inhibitors, with particular focus on combinations of these drugs with conventional chemotherapy, radiotherapy and targeted therapies.</p></div>","PeriodicalId":72344,"journal":{"name":"BBA clinical","volume":"5 ","pages":"Pages 29-40"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbacli.2015.11.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54180474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reduced inflammatory and muscle damage biomarkers following oral supplementation with bioavailable curcumin","authors":"Brian K. McFarlin ,&nbsp;Adam S. Venable ,&nbsp;Andrea L. Henning ,&nbsp;Jill N. Best Sampson ,&nbsp;Kathryn Pennel ,&nbsp;Jakob L. Vingren ,&nbsp;David W. Hill","doi":"10.1016/j.bbacli.2016.02.003","DOIUrl":"10.1016/j.bbacli.2016.02.003","url":null,"abstract":"<div><h3>Background</h3><p>Exercise-Induced Muscle Damage (EIMD) and delayed onset muscle soreness (DOMS) impact subsequent training sessions and activities of daily living (ADL) even in active individuals. In sedentary or diseased individuals, EIMD and DOMS may be even more pronounced and present even in the absence of structured exercise.</p></div><div><h3>Methods</h3><p>The purpose of this study was to determine the effects of oral curcumin supplementation (Longvida® 400<!--> <!-->mg/days) on muscle &amp; ADL soreness, creatine kinase (CK), and inflammatory cytokines (TNF-α, IL-6, IL-8, IL-10) following EMID (eccentric-only dual-leg press exercise). Subjects (N<!--> <!-->=<!--> <!-->28) were randomly assigned to either curcumin (400<!--> <!-->mg/day) or placebo (rice flour) and supplemented 2<!--> <!-->days before to 4<!--> <!-->days after EMID. Blood samples were collected prior to (PRE), and 1, 2, 3, and 4<!--> <!-->days after EIMD to measure CK and inflammatory cytokines. Data were analyzed by ANOVA with P<!--> <!-->&lt;<!--> <!-->0.05.</p></div><div><h3>Results</h3><p>Curcumin supplementation resulted in significantly smaller increases in CK (−<!--> <!-->48%), TNF-α (−<!--> <!-->25%), and IL-8 (−<!--> <!-->21%) following EIMD compared to placebo. We observed no significant differences in IL-6, IL-10, or quadriceps muscle soreness between conditions for this sample size.</p></div><div><h3>Conclusions</h3><p>Collectively, the findings demonstrated that consumption of curcumin reduced biological inflammation, but not quadriceps muscle soreness, during recovery after EIMD. The observed improvements in biological inflammation may translate to faster recovery and improved functional capacity during subsequent exercise sessions.</p></div><div><h3>General significance</h3><p>These findings support the use of oral curcumin supplementation to reduce the symptoms of EIMD. The next logical step is to evaluate further the efficacy of an inflammatory clinical disease model.</p></div>","PeriodicalId":72344,"journal":{"name":"BBA clinical","volume":"5 ","pages":"Pages 72-78"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbacli.2016.02.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54181242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in plasma metabolites and glucose homeostasis during omega-3 polyunsaturated fatty acid supplementation in women with polycystic ovary syndrome","authors":"Sidika E. Karakas ,&nbsp;Bertrand Perroud ,&nbsp;Tobias Kind ,&nbsp;Mine Palazoglu ,&nbsp;Oliver Fiehn","doi":"10.1016/j.bbacli.2016.04.003","DOIUrl":"10.1016/j.bbacli.2016.04.003","url":null,"abstract":"<div><h3>Background</h3><p>Both fish (FO) and flaxseed oils (FLX) are n-3 polyunsaturated fatty acids (PUFA). Fish oil contains long chain while FLX contains essential n-3 PUFA. We demonstrated that FO altered insulin secretion and resistance in polycystic ovary syndrome (PCOS) women but FLX did not. Surprisingly, the effects of FO were similar to those of the n-6 PUFA-rich soybean oil (SBO). Since increased branched chain (BCAA) and aromatic amino acids (AA) affect insulin secretion and resistance, we investigated whether FO, FLX and /or SBO affect plasma metabolites, especially AA.</p></div><div><h3>Methods and findings</h3><p>In this six-week, randomized, 3-parallel arm, double-blinded study, 54 women received 3.5<!--> <!-->g/day FO, FLX or SBO. In 51 completers (17 from each arm), fasting plasma metabolites were measured at the beginning and at the end.</p><p>As compared to FLX, FO and SBO increased insulin response and resistance as well as several BCAA and aromatic AA. Pathway analysis indicated that FO exerted the largest biochemical impact, affecting AA degradation and biosynthesis, amine, polyamine degradation and alanine, glycine, <span>l</span>-carnitine biosynthesis and TCA cycle, while FLX had minimal impact affecting only alanine biosynthesis and <span>l</span>-cysteine degradation.</p></div><div><h3>Conclusion</h3><p>Effects of FO and SBO on plasma AA were similar and differed significantly from those of the FLX. The primary target of dietary PUFA is not known. Dietary PUFA may influence insulin secretion and resistance directly and alter plasma AA indirectly. Alternatively, as a novel concept, dietary PUFA may directly affect AA metabolism and the changes in insulin secretion and resistance may be secondary.</p></div>","PeriodicalId":72344,"journal":{"name":"BBA clinical","volume":"5 ","pages":"Pages 179-185"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbacli.2016.04.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34550981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Magnetic resonance spectroscopy — Revisiting the biochemical and molecular milieu of brain tumors","authors":"Ashish Verma ,&nbsp;Ishan Kumar ,&nbsp;Nimisha Verma ,&nbsp;Priyanka Aggarwal ,&nbsp;Ritu Ojha","doi":"10.1016/j.bbacli.2016.04.002","DOIUrl":"10.1016/j.bbacli.2016.04.002","url":null,"abstract":"<div><h3>Background</h3><p>Magnetic resonance spectroscopy (MRS) is an established tool for in-vivo evaluation of the biochemical basis of human diseases. On one hand, such lucid depiction of ‘live biochemistry’ helps one to decipher the true nature of the pathology while on the other hand one can track the response to therapy at sub-cellular level. Brain tumors have been an area of continuous interrogation and instigation for mankind. Evaluation of these lesions by MRS plays a crucial role in the two aspects of disease management described above.</p></div><div><h3>Scope of review</h3><p>Presented is an overview of the window provided by MRS into the biochemical aspects of brain tumors. We systematically visit each metabolite deciphered by MRS and discuss the role of deconvoluting the biochemical aspects of pathologies (here in context of brain tumors) in the disease management cycle. We further try to unify a radiologist's perspective of disease with that of a biochemist to prove the point that preclinical work is the mother of the treatment we provide at bedside as clinicians. Furthermore, an integrated approach by various scientific experts help resolve a query encountered in everyday practice.</p></div><div><h3>Major conclusions</h3><p>MR spectroscopy is an integral tool for evaluation and systematic follow-up of brain tumors. A deeper understanding of this technology by a biochemist would help in a swift and more logical development of the technique while a close collaboration with radiologist would enable definitive application of the same.</p></div><div><h3>General significance</h3><p>The review aims at inciting closer ties between the two specialists enabling a deeper understanding of this valuable technology.</p></div>","PeriodicalId":72344,"journal":{"name":"BBA clinical","volume":"5 ","pages":"Pages 170-178"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbacli.2016.04.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34530731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diabetic and dyslipidaemic morbidly obese exhibit more liver alterations compared with healthy morbidly obese","authors":"Eva Pardina ,&nbsp;Roser Ferrer ,&nbsp;Joana Rossell ,&nbsp;Juan Antonio Baena-Fustegueras ,&nbsp;Albert Lecube ,&nbsp;Jose Manuel Fort ,&nbsp;Enric Caubet ,&nbsp;Óscar González ,&nbsp;Ramón Vilallonga ,&nbsp;Víctor Vargas ,&nbsp;José María Balibrea ,&nbsp;Julia Peinado-Onsurbe","doi":"10.1016/j.bbacli.2015.12.002","DOIUrl":"10.1016/j.bbacli.2015.12.002","url":null,"abstract":"<div><h3>Background &amp; aims</h3><p>To study the origin of fat excess in the livers of morbidly obese (MO) individuals, we analysed lipids and lipases in both plasma and liver and genes involved in lipid transport, or related with, in that organ.</p></div><div><h3>Methods</h3><p>Thirty-two MO patients were grouped according to the absence (healthy: DM<!--> <!-->−<!--> <!-->DL<!--> <!-->−) or presence of comorbidities (dyslipidemic: DM<!--> <!-->−<!--> <!-->DL<!--> <!-->+; or dyslipidemic with type 2 diabetes: DM<!--> <!-->+<!--> <!-->DL<!--> <!-->+) before and one year after gastric bypass.</p></div><div><h3>Results</h3><p>The livers of healthy, DL and DM patients contained more lipids (9.8, 9.5 and 13.7 times, respectively) than those of control subjects. The genes implicated in liver lipid uptake, including <em>HL</em>, <em>LPL</em>, <em>VLDLr</em>, and <em>FAT</em>/<em>CD36</em>, showed increased expression compared with the controls. The expression of genes involved in lipid-related processes outside of the liver, such as <em>apoB</em>, <em>PPARα</em> and <em>PGC1α</em>, <em>CYP7a1</em> and <em>HMGCR</em>, was reduced in these patients compared with the controls. <em>PAI1</em> and <em>TNFα</em> gene expression in the diabetic livers was increased compared with the other obese groups and control group. Increased steatosis and fibrosis were also noted in the MO individuals.</p></div><div><h3>Conclusions</h3><p>Hepatic lipid parameters in MO patients change based on their comorbidities. The gene expression and lipid levels after bariatric surgery were less prominent in the diabetic patients. Lipid receptor overexpression could enable the liver to capture circulating lipids, thus favouring the steatosis typically observed in diabetic and dyslipidaemic MO individuals.</p></div>","PeriodicalId":72344,"journal":{"name":"BBA clinical","volume":"5 ","pages":"Pages 54-65"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbacli.2015.12.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54181143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Urinary myeloid IgA Fc alpha receptor (CD89) and transglutaminase-2 as new biomarkers for active IgA nephropathy and henoch-Schönlein purpura nephritis","authors":"Rafael N. Moresco ,&nbsp;Marijn M. Speeckaert ,&nbsp;Slawomir C. Zmonarski ,&nbsp;Magdalena Krajewska ,&nbsp;Ewa Komuda-Leszek ,&nbsp;Agnieszka Perkowska-Ptasinska ,&nbsp;Loreto Gesualdo ,&nbsp;Maria T. Rocchetti ,&nbsp;Sigurd E. Delanghe ,&nbsp;Raymond Vanholder ,&nbsp;Wim Van Biesen ,&nbsp;Joris R. Delanghe","doi":"10.1016/j.bbacli.2016.02.002","DOIUrl":"10.1016/j.bbacli.2016.02.002","url":null,"abstract":"<div><h3>Background</h3><p>IgA nephropathy (IgAN) and Henoch-Schönlein purpura nephritis (HSPN) are glomerular diseases that share a common and central pathogenic mechanism. The formation of immune complexes containing IgA1, myeloid IgA Fc alpha receptor (FcαRI/CD89) and transglutaminase-2 (TG2) is observed in both conditions. Therefore, urinary CD89 and TG2 could be potential biomarkers to identify active IgAN/HSPN.</p></div><div><h3>Methods</h3><p>In this multicenter study, 160 patients with IgAN or HSPN were enrolled. Urinary concentrations of CD89 and TG2, as well as some other biochemical parameters, were measured.</p></div><div><h3>Results</h3><p>Urinary CD89 and TG2 were lower in patients with active IgAN/HSPN compared to IgAN/HSPN patients in complete remission (<em>P</em> <!-->&lt;<!--> <!-->0.001). The CD89xTG2 formula had a high ability to discriminate active <strong>from inactive</strong> IgAN/HSPN in both situations<strong>: CD89xTG2/proteinuria ratio</strong> (AUC: 0.84, <em>P</em> <!-->&lt;<!--> <!-->0.001, sensitivity: 76%, specificity: 74%) <strong>and CD89xTG2/urinary creatinine ratio</strong> (AUC: 0.82, <em>P</em> <!-->&lt;<!--> <!-->0.001, sensitivity: 75%, specificity: 74%). Significant correlations between urinary CD89 and TG2 (r<!--> <!-->=<!--> <!-->0.711, <em>P</em> <!-->&lt;<!--> <!-->0.001), proteinuria and urinary CD89 (r<!--> <!-->=<!--> <!-->−<!--> <!-->0.585, <em>P</em> <!-->&lt;<!--> <!-->0.001), and proteinuria and urinary TG2 (r<!--> <!-->=<!--> <!-->−<!--> <!-->0.620, <em>P</em> <!-->&lt;<!--> <!-->0.001) were observed.</p></div><div><h3>Conclusions</h3><p>Determination of CD89 and TG2 in urine samples can be useful to identify patients with active IgAN/HSPN.</p></div>","PeriodicalId":72344,"journal":{"name":"BBA clinical","volume":"5 ","pages":"Pages 79-84"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbacli.2016.02.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54181235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation","authors":"Rodolfo Tonin ,&nbsp;Anna Caciotti ,&nbsp;Silvia Funghini ,&nbsp;Elisabetta Pasquini ,&nbsp;Sean D. Mooney ,&nbsp;Binghuang Cai ,&nbsp;Elena Proncopio ,&nbsp;Maria Alice Donati ,&nbsp;Federico Baronio ,&nbsp;Ilaria Bettocchi ,&nbsp;Alessandra Cassio ,&nbsp;Giacomo Biasucci ,&nbsp;Andrea Bordugo ,&nbsp;Giancarlo la Marca ,&nbsp;Renzo Guerrini ,&nbsp;Amelia Morrone","doi":"10.1016/j.bbacli.2016.03.004","DOIUrl":"10.1016/j.bbacli.2016.03.004","url":null,"abstract":"<div><p>Short-chain acyl-coA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation caused by <em>ACADS</em> gene alterations. SCADD is a heterogeneous condition, sometimes considered to be solely a biochemical condition given that it has been associated with variable clinical phenotypes ranging from no symptoms or signs to metabolic decompensation occurring early in life.</p><p>A reason for this variability is due to SCAD alterations, such as the common p.Gly209Ser, that confer a disease susceptibility state but require a complex multifactorial/polygenic condition to manifest clinically.</p><p>Our study focuses on 12 SCADD patients carrying 11 new <em>ACADS</em> variants, with the purpose of defining genotype–phenotype correlations based on clinical data, metabolite evaluation, molecular analyses, and <em>in silico</em> functional analyses.</p><p>Interestingly, we identified a synonymous variant, c.765G<!--> <!-->&gt;<!--> <!-->T (p.Gly255Gly) that influences <em>ACADS</em> mRNA splicing accuracy. mRNA characterisation demonstrated that this variant leads to an aberrant splicing product, harbouring a premature stop codon.</p><p>Molecular analysis and <em>in silico</em> tools are able to characterise <em>ACADS</em> variants, identifying the severe mutations and consequently indicating which patients could benefit from a long term follow- up. We also emphasise that synonymous mutations can be relevant features and potentially associated with SCADD.</p></div>","PeriodicalId":72344,"journal":{"name":"BBA clinical","volume":"5 ","pages":"Pages 114-119"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.bbacli.2016.03.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54181303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}