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Acid base disorders

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https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#1
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
February 28, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28342698/targeted-exome-sequencing-and-chromosomal-microarray-for-the-molecular-diagnosis-of-nevoid-basal-cell-carcinoma-syndrome
#2
Yoshihiro Matsudate, Takuya Naruto, Yumiko Hayashi, Mitsuyoshi Minami, Mikiko Tohyama, Kenji Yokota, Daisuke Yamada, Issei Imoto, Yoshiaki Kubo
BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder mainly caused by heterozygous mutations of PTCH1. In addition to characteristic clinical features, detection of a mutation in causative genes is reliable for the diagnosis of NBCCS; however, no mutations have been identified in some patients using conventional methods. OBJECTIVE: To improve the method for the molecular diagnosis of NBCCS. METHODS: We performed targeted exome sequencing (TES) analysis using a multi-gene panel, including PTCH1, PTCH2, SUFU, and other sonic hedgehog signaling pathway-related genes, based on next-generation sequencing (NGS) technology in 8 cases in whom possible causative mutations were not detected by previously performed conventional analysis and 2 recent cases of NBCCS...
March 11, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28338025/preventing-perioperative-bleeding-in-patients-with-inherited-bleeding-disorders
#3
Colin Watterson, Nicholas Beacher
Data sourcesCochrane Cystic Fibrosis and Genetic Disorders Group's Coagulopathies Trials Register, a regularly updated database informed by trials identified within electronic databases including MEDLINE. Further defined searches were undertaken in PubMed, Embase, The Cochrane Library, ClinicalTrials.gov and WHO International Clinical Trials Registry Platform. Additional hand searching of relevant journals and books of conference proceedings was undertaken.Study selectionRandomised and quasi-randomised controlled trials in people of all ages with haemophilia or VWD undergoing oral or dental procedures using antifibrinolytic agents (tranexamic acid (TXA) or epsilon aminocaproic acid (EACA)) to prevent perioperative bleeding compared to no intervention with or without placebo...
March 2017: Evidence-based Dentistry
https://www.readbyqxmd.com/read/28337565/blood-trace-metals-in-a-sporadic-amyotrophic-lateral-sclerosis-geographical-cluster
#4
Stefano De Benedetti, Giorgio Lucchini, Cristian Del Bò, Valeria Deon, Alessandro Marocchi, Silvana Penco, Christian Lunetta, Elisabetta Gianazza, Francesco Bonomi, Stefania Iametti
Amyotrophic lateral sclerosis (ALS) is a fatal disorder with unknown etiology, in which genetic and environmental factors interplay to determine the onset and the course of the disease. Exposure to toxic metals has been proposed to be involved in the etiology of the disease either through a direct damage or by promoting oxidative stress. In this study we evaluated the concentration of a panel of metals in serum and whole blood of a small group of sporadic patients, all living in a defined geographical area, for which acid mine drainage has been reported...
March 23, 2017: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/28337243/residue-specific-interactions-of-an-intrinsically-disordered-protein-with-silica-nanoparticles-and-their-quantitative-prediction
#5
Mouzhe Xie, Alexandar L Hansen, Jiaqi Yuan, Rafael Brüschweiler
Elucidation of the driving forces that govern interactions between nanoparticles and intrinsically disordered proteins (IDP) is important for the understanding of the effect of nanoparticles in living systems and for the design of new nanoparticle-based assays to monitor health and combat disease. The quantitative interaction profile of the intrinsically disordered transactivation domain of p53 and its mutants with anionic silica nanoparticles is reported at atomic resolution using nuclear magnetic spin relaxation experiments...
October 27, 2016: Journal of Physical Chemistry. C, Nanomaterials and Interfaces
https://www.readbyqxmd.com/read/28331777/on-the-potential-of-using-peculiarities-of-the-protein-intrinsic-disorder-distribution-in-mitochondrial-cytochrome-b-to-identify-the-source-of-animal-meats
#6
Haitham A Yacoub, Mahmoud A Sadek, Vladimir N Uversky
This study was conducted to identify the source of animal meat based on the peculiarities of protein intrinsic disorder distribution in mitochondrial cytochrome b (mtCyt-b). The analysis revealed that animal and avian species can be discriminated based on the proportions of the two groups of residues, Leu+Ile, and Ser+Pro+Ala, in the amino acid sequences of their mtCyt-b. Although levels of the overall intrinsic disorder in mtCyt-b is not very high, the peculiarities of disorder distribution within the sequences of mtCyt-b from different species varies in a rather specific way...
2017: Intrinsically Disordered Proteins
https://www.readbyqxmd.com/read/28331572/environmental-risk-factors-for-autism-an-evidence-based-review-of-systematic-reviews-and-meta-analyses
#7
REVIEW
Amirhossein Modabbernia, Eva Velthorst, Abraham Reichenberg
BACKGROUND: According to recent evidence, up to 40-50% of variance in autism spectrum disorder (ASD) liability might be determined by environmental factors. In the present paper, we conducted a review of systematic reviews and meta-analyses of environmental risk factors for ASD. We assessed each review for quality of evidence and provided a brief overview of putative mechanisms of environmental risk factors for ASD. FINDINGS: Current evidence suggests that several environmental factors including vaccination, maternal smoking, thimerosal exposure, and most likely assisted reproductive technologies are unrelated to risk of ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28330580/biochemical-and-clinical-profiles-of-52-tunisian-patients-affected-by-zellweger-syndrome
#8
Fahmi Nasrallah, Wiem Zidi, Moncef Feki, Samia Kacem, Neji Tebib, Naziha Kaabachi
BACKGROUND: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. The incidence of this disease in Africa and the Arab world remains unknown. This contribution is aimed at describing the clinical phenotype and biochemical features in Tunisian patients with ZS in order to improve the detection and management of this severe disorder. METHODS: A total of 52 patients diagnosed with ZS and 60 age- and sex-matched healthy controls were included in this study...
February 17, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28327196/primary-hepatic-angiomyolipoma-immunohistochemistry-and-electron-microscopic-observations-a-case-report
#9
Hidefumi Kubo, Hitoshi Yamazaki, Takemichi Okada, Yoshihito Takahashi, Yatsushi Nishi, Hiroaki Yokomori
BACKGROUND: Hepatic angiomyolipomas are a rare, benign group of mesenchymal tumors in the liver. Hepatic angiomyolipoma is sometimes misdiagnosed as hepatocellular carcinoma, and there is the possibility of a malignant transformation. Hence, the accurate diagnosis of this disorder is necessary. CASE PRESENTATION: A 64-year-old Japanese man was observed to have a space-occupying lesion of 15-mm diameter in the liver during a follow-up examination for a previously resected cecal carcinoma...
March 22, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28322828/metabolic-characterization-of-human-aqueous-humor-in-relation-to-high-myopia
#10
Yinghong Ji, Jun Rao, Xianfang Rong, Shang Lou, Zhi Zheng, Yi Lu
High myopia is the common eye disorder worldwide, which may contribute to increase the risk of serious disorders including glaucoma and cataract. Although various studies including genomics, transcriptomics, and proteomics have been implicated to identify potential biomarkers (genes or proteins) for predicting high myopia and to reveal the underlying mechanisms, the comprehensive metabolomics in relation to high myopia is very limited. In this study, we identified 242 metabolites in aqueous humor (AH) from a set of 40 patients (including 20 with high myopia and 20 for controls), using a non-targeted metabolomic technology, gas chromatography coupled to time-of-flight mass spectrometer (GC/TOF MS)...
March 17, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28314860/a-newborn-screening-method-for-cerebrotendinous-xanthomatosis-using-bile-alcohol-glucuronides-and-metabolite-ratios
#11
Frédéric M Vaz, Albert H Bootsma, Willem Kulik, Aad Verrips, Ron A Wevers, Peter C Schielen, Andrea E DeBarber, Hidde H Huidekoper
Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis where symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excellent candidate for newborn screening. We developed a new dried blood spot screening assay for this disorder based on different ratios between the accumulating cholestanetetrol glucuronide (tetrol) and specific bile acids/bile acid intermediates, without the need for derivatization...
March 17, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28303465/pharmacotherapy-in-generalized-anxiety-disorder-novel-experimental-medicine-models-and-emerging-drug-targets
#12
REVIEW
David S Baldwin, Ruihua Hou, Robert Gordon, Nathan T M Huneke, Matthew Garner
Many pharmacological and psychological approaches have been found efficacious in patients with generalized anxiety disorder (GAD), but many treatment-seeking patients will not respond and others will relapse despite continuing with interventions that initially had beneficial effects. Other patients will respond but then stop treatment early because of untoward effects such as sexual dysfunction, drowsiness, and weight gain. There is much scope for the development of novel approaches that could have greater overall effectiveness or acceptability than currently available interventions or that have particular effectiveness in specific clinical subgroups...
March 16, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28300463/preparation-of-dexamethasone-ophthalmic-implants-a-comparative-study-of-in-vitro-release-profiles
#13
Ana I Prata, Patrícia Coimbra, M Eugénia Pina
Diseases affecting the posterior segment of the eye are the most common cause of visual disorders in industrialized countries. This scenario has encouraged the development of new treatment modalities for these diseases, such as drug loaded implants with prolonged drug release. The aim of the present work was to create a polymeric based biodegradable ophthalmic implant for the delivery of dexamethasone. For this purpose, we prepared and compared the in vitro release profiles of dexamethasone ophthalmic implants produced by two methods: melting casting and solvent casting...
March 16, 2017: Pharmaceutical Development and Technology
https://www.readbyqxmd.com/read/28298293/discovery-and-fine-mapping-of-loci-associated-with-monounsaturated-fatty-acids-through-trans-ethnic-meta-analysis-in-chinese-and-european-populations
#14
Yao Hu, Toshiko Tanaka, Jingwen Zhu, Weihua Guan, Jason H Y Wu, Bruce M Psaty, Barbara McKnight, Irena B King, Qi Sun, Melissa Richard, Ani Manichaikul, Alexis C Frazier-Wood, Edmond K Kabagambe, Paul N Hopkins, Jose M Ordovas, Luigi Ferrucci, Stefania Bandinelli, Donna K Arnett, Yii-Der I Chen, Shuang Liang, David S Siscovick, Michael Y Tsai, Stephen S Rich, Myriam Fornage, Frank B Hu, Eric B Rimm, Majken K Jensen, Rozenn N Lemaitre, Dariush Mozaffarian, Lyn M Steffen, Andrew P Morris, Huaixing Li, Xu Lin
Monounsaturated fatty acids (MUFAs) are unsaturated fatty acids with one double bond and are derived from endogenous synthesis and dietary intake. Accumulating evidence has suggested that plasma and erythrocyte MUFA levels were associated with cardiometabolic disorders including cardiovascular disease (CVD), type 2 diabetes (T2D) and metabolic syndrome (MS). Previous genome-wide association studies (GWAS) have identified seven loci for plasma and erythrocyte palmitoleic acid and oleic acid levels in populations of European origin...
March 15, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28293905/hyperphenylalaninemia-correlated-with-global-decrease-of-antioxidant-genes-expression-in-white-blood-cells-of-adult-patients-with-phenylketonuria
#15
Charlotte Veyrat-Durebex, Christelle Debeissat, Hélène Blasco, Franck Patin, Hélène Henique, Patrick Emond, Catherine Antar, Valérie Gissot, Olivier Herault, François Maillot
BACKGROUND: Several studies have highlighted disturbance of redox homeostasis in patients with phenylketonuria (PKU) which may be associated with neurological disorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially phenylalaninemia. METHODS: We measured RNA expression of 22 antioxidant genes and reactive oxygen species (ROS) levels in white blood cells of 10 PKU patients and 10 age- and gender-matched controls...
March 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28292717/test-retest-reproducibility-of-quantitative-binding-measures-of-11-c-ro15-4513-a-pet-ligand-for-gabaa-receptors-containing-alpha5-subunits
#16
Colm J McGinnity, Daniela A Riaño Barros, Lula Rosso, Mattia Veronese, Gaia Rizzo, Alessandra Bertoldo, Rainer Hinz, Federico E Turkheimer, Matthias J Koepp, Alexander Hammers
INTRODUCTION: Alteration of γ-aminobutyric acid "A" (GABAA) receptor-mediated neurotransmission has been associated with various neurological and psychiatric disorders. [(11)C]Ro15-4513 is a PET ligand with high affinity for α5-subunit-containing GABAA receptors, which are highly expressed in limbic regions of the human brain (Sur et al., 1998). We quantified the test-retest reproducibility of measures of [(11)C]Ro15-4513 binding derived from six different quantification methods (12 variants)...
March 11, 2017: NeuroImage
https://www.readbyqxmd.com/read/28292250/computational-prediction-of-protein-epsilon-lysine-acetylation-sites-based-on-a-feature-selection-method
#17
JianZhao Gao, Xue-Wen Tao, Jia Zhao, Yuan-Ming Feng, Yu-Dong Cai, Ning Zhang
Lysine acetylation, as one type of post-translational modifications (PTM), plays key roles in cellular regulations and can be involved in a variety of human diseases. However, it is often high-cost and time-consuming to use traditional experimental approaches to identify the lysine acetylation sites. Therefore, effective computational methods should be developed to predict the acetylation sites. In this study, we developed a position-specific method for epsilon lysine acetylation site prediction. Various kinds of features such as position specific scoring matrix (PSSM), amino acid factors (AAF), and disorders were incorporated...
March 13, 2017: Combinatorial Chemistry & High Throughput Screening
https://www.readbyqxmd.com/read/28288117/single-molecule-electrometry
#18
Francesca Ruggeri, Franziska Zosel, Natalie Mutter, Mirosława Różycka, Magdalena Wojtas, Andrzej Ożyhar, Benjamin Schuler, Madhavi Krishnan
Mass and electrical charge are fundamental properties of biological macromolecules. Although molecular mass has long been determined with atomic precision, a direct and precise determination of molecular charge remains an outstanding challenge. Here we report high-precision (<1e) measurements of the electrical charge of molecules such as nucleic acids, and globular and disordered proteins in solution. The measurement is based on parallel external field-free trapping of single macromolecules, permits the estimation of a dielectric coefficient of the molecular interior and can be performed in real time...
March 13, 2017: Nature Nanotechnology
https://www.readbyqxmd.com/read/28286957/combined-clinical-phenotype-and-lipidomic-analysis-reveals-the-impact-of-chronic-kidney-disease-on-lipid-metabolism
#19
Hua Chen, Lin Chen, Dan Liu, Dan-Qian Chen, Nosratola D Vaziri, Xiao-Yong Yu, Li Zhang, Wei Su, Xu Bai, Ying-Yong Zhao
Chronic kidney disease (CKD) results in significant dyslipidemia and profound changes in lipid and lipoprotein metabolism. The associated dyslipidemia, in turn, contributes to progression of CKD and its cardiovascular complications. To gain an in-depth insight into the disorders of lipid metabolism in advanced CKD, we applied UPLC-HDMS-based lipidomics to measure serum lipid metabolites in 180 patients with advanced CKD and 120 age-matched healthy controls. We found significant increases in the levels of total free fatty acids, glycerolipids, and glycerophospholipids in patients with CKD...
March 27, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28283894/treatment-of-porokeratosis-a-systematic-review
#20
REVIEW
Till Weidner, Tanja Illing, Diana Miguel, Peter Elsner
BACKGROUND: Porokeratosis (PK) is a rare skin disease of unknown etiology. It consists of a keratinization disorder, which may appear in several clinical forms and can undergo malignant transformation. The histopathological hallmark of PK is the cornoid lamella. While many topical, systemic, and surgical treatment modalities for PK have been described, no randomized controlled trials have been performed yet. Because of a lack of treatment standards for PK, European and international guidelines cannot be created...
March 10, 2017: American Journal of Clinical Dermatology
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