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https://www.readbyqxmd.com/read/27929079/from-function-to-phenotype-impaired-dna-binding-and-clustering-correlates-with-clinical-severity-in-males-with-missense-mutations-in-mecp2
#1
Taimoor I Sheikh, Juan Ausió, Hannah Faghfoury, Josh Silver, Jane B Lane, James H Eubanks, Patrick MacLeod, Alan K Percy, John B Vincent
Mutations in the MECP2 gene cause Rett syndrome (RTT). MeCP2 binds to chromocentric DNA through its methyl CpG-binding domain (MBD) to regulate gene expression. In heterozygous females the variable phenotypic severity is modulated by non-random X-inactivation, thus making genotype-phenotype comparisons unreliable. However, genotype-phenotype correlations in males with hemizygousMECP2 mutations can provide more accurate insights in to the true biological effect of specific mutations. Here, we compared chromatin organization and binding dynamics for twelve MeCP2 missense mutations (including two novel and the five most common MBD missense RTT mutations) and identifiedacorrelation with phenotype in hemizygous males...
December 8, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27923996/binding-of-mbd-proteins-to-dna-blocks-tet1-function-thereby-modulating-transcriptional-noise
#2
Anne K Ludwig, Peng Zhang, Florian D Hastert, Stephanie Meyer, Cathia Rausch, Henry D Herce, Udo Müller, Anne Lehmkuhl, Ines Hellmann, Carina Trummer, Christian Storm, Heinrich Leonhardt, M Cristina Cardoso
Aberrant DNA methylation is a hallmark of various human disorders, indicating that the spatial and temporal regulation of methylation readers and modifiers is imperative for development and differentiation. In particular, the cross-regulation between 5-methylcytosine binders (MBD) and modifiers (Tet) has not been investigated. Here, we show that binding of Mecp2 and Mbd2 to DNA protects 5-methylcytosine from Tet1-mediated oxidation. The mechanism is not based on competition for 5-methylcytosine binding but on Mecp2 and Mbd2 directly restricting Tet1 access to DNA...
December 6, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27913900/bone-mineral-density-of-extremities-is-associated-with-coronary-calcification-and-biopsy-verified-vascular-calcification-in-living-donor-renal-transplant-recipients
#3
Zhimin Chen, Jia Sun, Mathias Haarhaus, Peter Barany, Lars Wennberg, Jonaz Ripsweden, Torkel B Brismar, Bengt Lindholm, Annika Wernerson, Magnus Söderberg, Peter Stenvinkel, Abdul Rashid Qureshi
Chronic kidney disease (CKD) mineral and bone disorders (CKD-MBD) may lead to low bone mineral density (BMD) and vascular calcification (VC), but links to the latter are unclear. Here we investigated associations between BMD, coronary artery calcium (CAC) scores, and histological signs of VC in end-stage renal disease (ESRD) patients undergoing living-donor kidney transplantation (LD-Rtx). In 66 ESRD patients (median age 45 years, 68% males), BMD (by dual-energy X-ray absorptiometry, DXA), CAC score (by computed tomography, CT; n = 54), and degree of VC score (graded by histological examination of epigastric artery specimens collected at LD-Rtx; n = 55) were assessed at the time of LD-Rtx...
December 2, 2016: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/27896453/management-of-phosphorus-load-in-ckd-patients
#4
REVIEW
Yutaka Taketani, Fumihiko Koiwa, Keitaro Yokoyama
Disturbances in mineral and bone metabolism play a critical role in the pathogenesis of cardiovascular complications in patients with chronic kidney disease (CKD). The term "renal osteodystrophy" has recently been replaced with "CKD-mineral and bone disorder (CKD-MBD)", which includes vascular calcification as well as bone abnormalities. In Japan, proportions of the aged and long-term dialysis patients are increasing which makes management of vascular calcification and parathyroid function increasingly more important...
November 28, 2016: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/27894120/end-of-life-care-and-survival-without-major-brain-damage-in-newborns-at-the-limit-of-viability
#5
Fermín García-Muñoz Rodrigo, Lourdes Urquía Martí, José Ángel García Hernández, Josep Figueras Aloy, Alfredo García-Alix Pérez
BACKGROUND: The probabilities of survival and survival without major brain damage (MBD) are low in newborns at the limit of viability. Survival without MBD constitutes a major concern for parents and professionals. OBJECTIVES: To know the probabilities of survival without MBD in newborns ≤26 weeks' gestational age (GA) relative to the total number of survivors, whether these probabilities vary with GA, and how end-of-life (EoL) decisions influence these results...
November 29, 2016: Neonatology
https://www.readbyqxmd.com/read/27890549/novel-functions-of-circulating-klotho
#6
REVIEW
Julia M Hum, Linda O'Bryan, Rosamund C Smith, Kenneth E White
A significant portion of the key biological functions of αKlotho (αKL) and its cognate ligand Fibroblast growth factor-23 (FGF23) have been revealed through the study of rare diseases of mineral metabolism. These findings have far reaching implications for common disorders such as chronic kidney disease-mineral bone disorder (CKD-MBD). αKL's predominant effect on mineral homeostasis is through its actions in the kidney as a co-receptor for FGF23, however emerging data has shed light on its capacity to act as a circulating factor through the cleavage of the transmembrane form of αKL ('mKL') to produce 'cleaved KL' or 'cKL'...
November 23, 2016: Bone
https://www.readbyqxmd.com/read/27881585/partial-interhemispheric-disconnection-syndrome-p-ihds-secondary-to-marchiafava-bignami-disease-type-b-mbd-b
#7
Carlo Canepa, Lorena Arias
A 53-year-old man with a 35-year history of excessive alcohol intake presents to our neurology department with 4-year history of progressive neurocognitive deterioration and disconnection syndrome. MRI head demonstrates extensive demyelination of the corpus callosum (and of extracallosal sites as well), leading to a diagnosis of Marchiafava-Bignami disease. He was given treatment with vitamin B complex (including folate) and was assessed and managed by psychology, occupational therapy and physiotherapy with initial signs of improvement...
November 23, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27852166/perinatal-risk-factors-for-pneumothorax-and-morbidity-and-mortality-in-very-low-birth-weight-infants
#8
Fermín García-Muñoz Rodrigo, Lourdes Urquía Martí, Gloria Galán Henríquez, Sonia Rivero Rodríguez, Patricia Tejera Carreño, Silvia Molo Amorós, Pedro Cabrera Vega, Fernando Rodríguez Ramón
AIM: To determine the perinatal risk factors for pneumothorax in Very-Low-Birth-Weight (VLBW) infants and the associated morbidity and mortality in this population. METHODS: Retrospective analysis of data collected prospectively from a cohort of VLBW neonates assisted in our Unit (2006-2013). We included all consecutive in-born patients with? 1500 grams, without severe congenital anomalies. Perinatal history, demographics, interventions, and clinical outcomes were collected...
November 16, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27849519/dna-methylation-directs-genomic-localization-of-mbd2-and-mbd3-in-embryonic-stem-cells
#9
Sarah J Hainer, Kurtis N McCannell, Jun Yu, Ly-Sha Ee, Lihua J Zhu, Oliver J Rando, Thomas G Fazzio
Cytosine methylation is an epigenetic and regulatory mark that functions in part through recruitment of chromatin remodeling complexes containing methyl-CpG binding domain (MBD) proteins. Two MBD proteins, Mbd2 and Mbd3, were previously shown to bind methylated or hydroxymethylated DNA, respectively; however, both of these findings have been disputed. Here, we investigated this controversy using experimental approaches and re-analysis of published data and find no evidence for methylation-independent functions of Mbd2 or Mbd3...
November 16, 2016: ELife
https://www.readbyqxmd.com/read/27847254/vascular-calcification-in-ckd-mbd-roles-for-phosphate-fgf23-and-klotho
#10
REVIEW
Shunsuke Yamada, Cecilia M Giachelli
Vascular calcification (VC) is highly prevalent in aging, diabetes mellitus, and chronic kidney disease (CKD). VC is a strong predictor of cardiovascular morbidity and mortality in the CKD population. Complex pathological mechanisms are involved in the development of VC, including osteochondrogenic differentiation and apoptosis of vascular smooth muscle cells, instability and release of extracellular vesicles loaded calcium and phosphate, and elastin degradation. Elevated serum phosphate is a late manifestation of CKD, and has been shown to accelerate mineral deposition in both the vessel wall and heart valves...
November 12, 2016: Bone
https://www.readbyqxmd.com/read/27826844/proteins-that-read-dna-methylation
#11
Takashi Shimbo, Paul A Wade
Covalent modification of DNA via deposition of a methyl group at the 5' position on cytosine residues alters the chemical groups available for interaction in the major groove of DNA. The information content inherent in this modification alters the affinity and the specificity of DNA binding; some proteins favor interaction with methylated DNA, and others disfavor it. Molecular recognition of cytosine methylation by proteins often initiates sequential regulatory events which impact gene expression and chromatin structure...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27818277/comparison-of-the-effects-of-novel-vitamin-d-receptor-analog-vs-105-and-paricalcitol-on-chronic-kidney-disease-mineral-bone-disorder-in-an-experimental-model-of-chronic-kidney-disease
#12
Hideki Fujii, Yuriko Yonekura, Kentaro Nakai, Keiji Kono, Shunsuke Goto, Shinichi Nishi
When using vitamin D, the most important clinical problems are hypercalcemia, hyperphosphatemia, and vascular calcification. VS-105 is a novel vitamin D receptor (VDR) analog. In the present study, we compared the effects of VS-105 and paricalcitol on chronic kidney disease-mineral bone disorder (CKD-MBD) in a CKD rat model. We used male Sprague-Dawley (SD) rats and performed 5/6 nephrectomy at 8-9 weeks. At 10 weeks, the rats were classified into five groups and administered vehicle, low-dose paricalcitol (LP, 0...
November 3, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27815812/sentinel-node-mapping-in-endometrial-cancer-patients-comparing-spect-ct-gamma-probe-and-dye
#13
Federica Elisei, Cinzia Crivellaro, Daniela Giuliani, Carlotta Dolci, Elena De Ponti, Luca Montanelli, Maria La Manna, Luca Guerra, Maurizio Arosio, Claudio Landoni, Alessandro Buda
OBJECTIVE: The aim of this study was to compare preoperative SPECT/CT with gamma-probe and methylene blue-dye (MBD) in the identification of sentinel lymph node (SLN) in early stage endometrial cancer. METHODS: 40 stage-I EC patients (66.7 ± 9.7 years) underwent preoperative lymphoscintigraphy. After about 3 h from Tc-99m-albumin nanocolloid cervical injection, all patients underwent SPECT/CT study. MBD was injected into the cervix just before surgery under general anesthesia...
November 4, 2016: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/27814753/facility-level-ckd-mbd-composite-score-and-risk-of-adverse-clinical-outcomes-among-patients-on-hemodialysis
#14
Geoffrey A Block, Akeem A Yusuf, Mark D Danese, Heidi S Wirtz, Yan Hu, Thy P Do, Kerry Cooper, David T Gilbertson, Brian D Bradbury, Allan J Collins
BACKGROUND: Patients receiving hemodialysis with values outside of target levels for parathyroid hormone (PTH: 150-600 pg/mL), calcium (Ca: 8.4-10.2 mg/dL), and phosphate (P: 3.5-5.5 mg/dL) are at elevated morbidity and mortality risk. We examined whether patients receiving care in dialysis facilities where greater proportions of patients have at least two values out of target have a higher risk of adverse clinical outcomes. METHODS: The study cohort consisted of 39,085 prevalent hemodialysis patients in 1298 DaVita dialysis facilities as of September 1, 2009, followed from January 1, 2010, until an outcome, a censoring event, or December 31, 2010...
November 4, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27806914/micrornas-in-the-pathophysiology-of-ckd-mbd-biomarkers-and-innovative-drugs
#15
REVIEW
Valérie Metzinger-Le Meuth, Stéphane Burtey, Pierre Maitrias, Ziad A Massy, Laurent Metzinger
microRNAs comprise a novel class of endogenous small non-coding RNAs that have been shown to be implicated in both vascular damage and bone pathophysiology. Chronic kidney disease-mineral bone disorder (CKD-MBD) is characterized by vessel and bone damage secondary to progressive loss of kidney function. In this review, we will describe how several microRNAs have been implicated, in recent years, in cellular and animal models of CKD-MBD, and have been very recently shown to be deregulated in patients with CKD...
October 30, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27805345/altered-sensorium-in-a-young-male-marchiafava-bignami-disease-revisited
#16
Debasish Mishra, Priya Bhate, Vishal Anand Gupta, Shilpa Sankhe, N D Karnik
Marchiafava Bignami disease (MBD) is a rare and devastating complication of chronic alcoholism. Degeneration of the corpus callosum is the hallmark feature of MBD. Early diagnosis of MBD by its typical "Sandwich Sign" on magnetic resonance imaging (MRI). Prompt institution of treatment and strict alcohol abstinence can cause regression of changes and hence, clinical improvement. Here we report the case of a young chronic alcoholic male admitted with altered sensorium and his further course in ward.
November 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27804080/a-critical-appraisal-of-chronic-kidney-disease-mineral-and-bone-disorders-clinical-practice-guidelines-using-the-agree-ii-instrument
#17
REVIEW
Nigar Sekercioglu, Reem Al-Khalifah, Joycelyne Efua Ewusie, Rosilene M Elias, Lehana Thabane, Jason W Busse, Noori Akhtar-Danesh, Alfonso Iorio, Tetsuya Isayama, Juan Pablo Díaz Martínez, Ivan D Florez, Gordon H Guyatt
BACKGROUND: Patients with chronic kidney disease mineral and bone disorders (CKD-MBD) suffer high rates of morbidity and mortality, in particular related to bone and cardiovascular outcomes. The management of CKD-MBD remains challenging. The objective of this systematic survey is to critically appraise clinical practice guidelines (CPGs) addressing CKD-MBD. METHODS/DESIGN: Data sources included MEDLINE, EMBASE, the National Guideline Clearinghouse, Guideline International Network and Turning Research into Practice up to May 2016...
November 1, 2016: International Urology and Nephrology
https://www.readbyqxmd.com/read/27795214/-modified-tests-basophil-degranulation-and-leukocyte-migration-inhibition-factor-in-drug-allergy-study-2009-2014
#18
María Lourdes Irigoyen-Coria, María Isabel Rojo-Gutiérrez, Rubén Humberto Meyer-Gómez, Isabel Leyva-Carmona, Víctor Manuel Zendejas-Buitrón, Angélica Dinorah García-Ruiz, Jaime Mellado-Ábrego, Ilayalid García-Ortega, Gloria Castillo-Narváez
BACKGROUND: Adverse reactions to drugs are increasing and there are few studies for the diagnosis. OBJECTIVE: To determine the utility of modified basophil degranulation (MBD) test and modified leukocyte migration inhibition factor (MLMIF) test to prove drug hypersensitivity. METHODS: 177 patients of both sexes were studied with the diagnosis of drug hypersensitivity, determining MBD, MLMIF, or both, between 2009 and 2014. They were matched with positive and negative controls and the non-allergic population...
October 2016: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/27788700/-progress-in-diagnosis-and-therapy-of-extrahepatic-manifestations-of-cholestatic-liver-diseases
#19
L G Lu
Extra-hepatic complications of cholestasis mainly include pruritus, fatigue and metabolic bone diseases, and their molecular mechanisms have not yet been fully identified so far. Though therapeutic regimens targeted at the pathogenesis alleviate the symptoms temporarily, the therapeutic effects are limited, and therefore expounding the pathogenesis will help find more appropriate therapeutic approaches. Pruritus may be caused by nerve conduction block resulting from accumulation of some substances in the accumulated bile, existing recommended methods like drug therapy with cholestyramine and blood purification can markedly alleviate cholestasis-induced pruritus...
August 20, 2016: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/27779672/knockdown-of-macrophage-inhibitory-cytokine-1-in-rpmi-8226-human-multiple-myeloma-cells-inhibits-osteoclastic-differentiation-through-inhibiting-the-rankl-erk1-2-signaling-pathway
#20
Mingzhou Yuan, Junmin Chen, Zhiyong Zeng
Patients with multiple myeloma (MM) often develop myeloma bone disease (MBD). The development of MBD from MM is considered to be caused by an abnormal bone marrow microenvironment. Macrophage inhibitory cytokine-1 (MIC-1) is a member of the transforming growth factor‑β superfamily. In patients with MM, MIC‑1 is expressed at high levels, however, whether this increased expression of MIC‑1 is associated with the development of MBD from MM remains to be elucidated. The present study investigated whether MIC‑1 is essential for the osteoclastic differentiation of peripheral blood mononuclear cells (PBMNCs) by using a co‑culture system, in which the PBMNCs were co‑cultured with RPMI‑8226 cells...
October 24, 2016: Molecular Medicine Reports
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