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https://www.readbyqxmd.com/read/28105635/dental-and-extra-oral-clinical-features-in-41-patients-with-wnt10a-gene-mutations-a-multicentric-genotype-phenotype-study
#1
C Tardieu, S Jung, K Niederreither, M Prasad, S Hadj-Rabia, N Philip, A Mallet, E Consolino, E Sfeir, B Noueiri, N Chassaing, H Dollfus, M-C Manière, A Bloch-Zupan, F Clauss
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia (TOODD) and Schöpf-Schulz-Passarge Syndrome (SSPS). Here we describe the dental, ectodermal, and extra-ectodermal phenotypic features of a cohort of 41 patients from 32 unrelated families...
January 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28098811/aspalathin-protects-the-heart-against-hyperglycemia-induced-oxidative-damage-by-up-regulating-nrf2-expression
#2
Phiwayinkosi V Dludla, Christo J F Muller, Elizabeth Joubert, Johan Louw, M Faadiel Essop, Kwazi B Gabuza, Samira Ghoor, Barbara Huisamen, Rabia Johnson
Aspalathin (ASP) can protect H9c2 cardiomyocytes against high glucose (HG)-induced shifts in myocardial substrate preference, oxidative stress, and apoptosis. The protective mechanism of ASP remains unknown. However, as one of possible, it is well known that phytochemical flavonoids reduce oxidative stress via nuclear factor (erythroid-derived 2)-like 2 (Nrf2) activation resulting in up-regulation of antioxidant genes and enzymes. Therefore, we hypothesized that ASP protects the myocardium against HG- and hyperglycemia-induced oxidative damage by up-regulating Nrf2 expression in H9c2 cardiomyocytes and diabetic (db/db) mice, respectively...
January 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28077214/intervention-effectiveness-of-the-incredible-years-new-insights-into-sociodemographic-and-intervention-based-moderators
#3
Joyce Weeland, Rabia R Chhangur, Danielle van der Giessen, Walter Matthys, Bram Orobio de Castro, Geertjan Overbeek
We tested the effectiveness of the preventive behavioral parent training (BPT) program, The Incredible Years (IY), and the independent effects of previously suggested sociodemographic and intervention-based moderator variables (i.e., initial severity of externalizing problem behavior, child gender, social economic status, family composition, and number of sessions parents attended), in a large-scale randomized controlled trial. Questionnaire and observation data from 387 parents and children ages 4-8 years (Mage= 6...
January 2017: Behavior Therapy
https://www.readbyqxmd.com/read/28074521/assessment-of-the-effectiveness-of-topical-propranolol-4-gel-for-infantile-hemangiomas
#4
Jacob Mashiah, Ana Kutz, Smail Hadj Rabia, Efrat Bar Ilan, Ilan Goldberg, Eli Sprecher, Avikam Harel
BACKGROUND: Infantile hemangiomas (IHs) are the most common vascular tumors in children. Because of their benign character and natural involution, the vast majority of IHs do not require any treatment. In the past few years, topical beta blockers have been reported to be an effective treatment of superficial IHs. OBJECTIVE: We sought to evaluate the clinical effectiveness and safety profile of topical propranolol 4% gel for the treatment of IHs. METHODS: A retrospective study of all cases of IHs treated with topical propranolol 4% gel between 2013 and 2015 was performed...
February 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28073484/the-genetics-biosynthesis-and-regulation-of-toxic-specialized-metabolites-of-cyanobacteria
#5
REVIEW
Leanne A Pearson, Elke Dittmann, Rabia Mazmouz, Sarah E Ongley, Paul M D'Agostino, Brett A Neilan
The production of toxic metabolites by cyanobacterial blooms represents a significant threat to the health of humans and ecosystems worldwide. Here we summarize the current state of the knowledge regarding the genetics, biosynthesis and regulation of well-characterized cyanotoxins, including the microcystins, nodularin, cylindrospermopsin, saxitoxins and anatoxins, as well as the lesser-known marine toxins (e.g. lyngbyatoxin, aplysiatoxin, jamaicamides, barbamide, curacin, hectochlorin and apratoxins).
April 2016: Harmful Algae
https://www.readbyqxmd.com/read/28063765/skin-autofluorescence-renal-insufficiency-and-retinopathy-in-patients-with-type-2-diabetes
#6
Rabia Bentata, Audrey Cougnard-Grégoire, Marie Noëlle Delyfer, Cécile Delcourt, Laurence Blanco, Emilie Pupier, Marie Bénédicte Rougier, Kalina Rajaobelina, Marie Hugo, Jean François Korobelnik, Vincent Rigalleau
OBJECTIVES: Advanced glycation end-products (AGEs) are involved in diabetic retinopathy (DR). Their accumulation in tissues can be analyzed by measuring the skin autofluorescence (sAF). We hypothesized that renal insufficiency, another cause of high sAF, may disturb the relation between sAF and DR. RESEARCH DESIGN AND METHODS: We measured sAF with an AGE-Reader in 444 patients with type 2 diabetes (T2D), and we analyzed their retinal status. The associations of sAF with DR, and interaction with renal insufficiency were estimated by multivariate logistic regression analysis...
October 30, 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/28033103/the-sublethal-effects-of-2-4-dichlorophenoxy-acetic-acid-2-4-d-on-narrow-clawed-crayfish-astacus-leptodactylus-eschscholtz-1823
#7
A Çağlan Karasu Benli, Duygu Şahin, Rabia Sarıkaya, Burcu Koçak Memmi, Aylin Sepici Dinçel
2,4-D is a widely used phenoxy herbicide, potentially toxic to humans and biota. The objective of the present study was to reveal short term sublethal effects of 2,4-D on narrow-clawed freshwater crayfish (Astacus leptodactylus Eschscholtz, 1823), based on histology, total haemocyte counts, selected haemolymph parameters, and oxidative stress parameters. In the laboratory conditions crayfish specimens were exposed to 9 mg L-1 of 2,4-D for one week. Experiments were conducted under semi-static conditions in 20 L-capacity aquaria where 10 freshwater crayfish were stocked per aquarium...
December 1, 2016: Arhiv za Higijenu Rada i Toksikologiju
https://www.readbyqxmd.com/read/28025013/eosinophilic-esophagitis-and-colonic-mucosal-eosinophilia-in-netherton-syndrome
#8
Colombe Paluel-Marmont, Nathalia Bellon, Patrick Barbet, Stéphanie Leclerc-Mercier, Smail Hadj-Rabia, Christophe Dupont, Christine Bodemer
Nutritional management in Netherton syndrome (NS) is complicated by frequent digestive symptoms. We report the presence of eosinophilic esophagitis and colonic mucosal eosinophilia in NS. Digestive endoscopies should be considered in NS patients with growth retardation and digestive symptoms.
December 23, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28018696/alagille-syndrome-a-case-report-highlighting-dysmorphic-facies-chronic-illness-and-depression
#9
James J Bresnahan, Zachary A Winthrop, Rabia Salman, Salman Majeed
Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the psychiatric manifestations of Alagille syndrome have not been previously discussed in literature...
2016: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/28018088/fracture-of-the-scapholunate-coalition
#10
Önder Yeniçeri, Nesat Cullu, Halil Beydilli, Mehmet Deveer, Rabia Mihriban Kilinc
No abstract text is available yet for this article.
October 2016: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/27992798/peroxygenases-en-route-to-becoming-dream-catalysts-what-are-the-opportunities-and-challenges
#11
REVIEW
Yonghua Wang, Dongming Lan, Rabia Durrani, Frank Hollmann
Peroxygenases are promising catalysts for preparative oxyfunctionalization chemistry as they combine the versatility of P450 monooxygenases with simplicity of cofactor-independent enzymes. Though many interesting applications have been reported, today 'we have only scratched the surface' and significant efforts are necessary to solve issues related to selectivity of the wild type enzymes and low product titers. For this, further elucidation of the vast natural diversity as well as protein and reaction engineering approaches are discussed...
December 16, 2016: Current Opinion in Chemical Biology
https://www.readbyqxmd.com/read/27984780/high-rates-of-ctx-m-15-producing-escherichia-coli-and-klebsiella-pneumoniae-in-wild-boars-and-barbary-macaques-in-algeria
#12
Taous Bachiri, Sofiane Bakour, Rabia Ladjouzi, Leangapichart Thongpan, Jean Marc Rolain, Abdelaziz Touati
OBJECTIVES: The present study aimed to screen for the presence of extended-spectrum β-lactamase (ESBL)-producing Enterobacteriaceae in wild boars and Barbary macaques in Béjaïa and Jijel, Algeria. METHODS: A total of 216 faecal samples collected between September 2014 and August 2015 were cultured on MacConkey agar supplemented with 1μg/mL ceftazidime. Isolates were identified by matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF/MS)...
December 10, 2016: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/27956772/biocomputational-analysis-of-evolutionary-relationship-between-toll-like-receptor-and-nucleotide-binding-oligomerization-domain-like-receptors-genes
#13
Rabia Bhardwaj, Chandra Shekhar Mukhopadhyay, Dipak Deka, Ramneek Verma, P P Dubey, J S Arora
AIM: The active domains (TIR and NACHT) of the pattern recognition receptors (PRRs: Toll-like receptors [TLRs] and nucleotide-binding oligomerization domain [NOD]-like receptors [NLR], respectively) are the major hotspots of evolution as natural selection has crafted their final structure by substitution of residues over time. This paper addresses the evolutionary perspectives of the TLR and NLR genes with respect to the active domains in terms of their chronological fruition, functional diversification, and species-specific stipulation...
November 2016: Veterinary World
https://www.readbyqxmd.com/read/27942762/tricuspid-atresia-with-non-compaction-an-early-experience-with-implications-for-surgical-palliation
#14
Hoang H Nguyen, Rabia Khan, Norman H Silverman, Gautam K Singh
Left ventricle non-compaction (LVNC) has worse outcomes when associated with congenital heart defects (CHD). The co-occurrence and outcomes of LVNC with tricuspid atresia (TA) are not well described. Our study aims to determine the prevalence of LVNC with functionally single ventricle due to TA, and to describe the early outcomes of surgical palliation. A retrospective database search for patients (n = 167,566) and echocardiograms (n = 44,053) was performed in order to collect clinical, echocardiographic, and hemodynamic data of pediatric patients with TA and LVNC at St...
December 10, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27931749/-hereditary-epidermolysis-bullosa-french-national-guidelines-pnds-for-diagnosis-and-treatment
#15
C Chiaverini, E Bourrat, J Mazereeuw-Hautier, S Hadj-Rabia, C Bodemer, J-P Lacour
Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. They are classified by level of skin cleavage (from top to bottom) into four groups: EB simplex, junctional EB, dystrophic EB and Kindler syndrome...
December 5, 2016: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27926476/mitochondrial-cytochrome-c-oxidase-is-inhibited-by-atp-only-at-very-high-atp-adp-ratios
#16
Rabia Ramzan, Andreas K Schaper, Petra Weber, Annika Rhiel, Muhammad Saad Siddiq, Sebastian Vogt
In the past, divergent results have been reported based on different methods and conditions used for enzymatic activity measurements of cytochrome c oxidase (CytOx). Here, we analyze in detail and show comparable and reproducible polarographic activity measurements of ATP-dependent inhibition of CytOx kinetics in intact and non-intact rat heart mitochondria and mitoplasts. We found that this mechanism is always present in isolated rat heart mitochondria and mitoplasts; however, it is measurable only at high ATP/ADP ratios using optimal protein concentrations...
January 13, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/27924598/markerless-genome-editing-in-competent-streptococci
#17
Roger Junges, Rabia Khan, Yanina Tovpeko, Heidi A Åmdal, Fernanda C Petersen, Donald A Morrison
Selective markers employed in classical mutagenesis methods using natural genetic transformation can affect gene expression, risk phenotypic effects, and accumulate as unwanted genes during successive mutagenesis cycles. In this chapter, we present a protocol for markerless genome editing in Streptococcus mutans and Streptococcus pneumoniae achieved with an efficient method for natural transformation. High yields of transformants are obtained by combining the unimodal state of competence developed after treatment of S...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27924597/natural-transformation-of-oral-streptococci-by-use-of-synthetic-pheromones
#18
Gabriela Salvadori, Roger Junges, Rabia Khan, Heidi A Åmdal, Donald A Morrison, Fernanda C Petersen
The discovery that Streptococcus pneumoniae uses a competence-stimulating peptide (CSP) to induce competence for natural transformation, and that other species of the mitis and the anginosus streptococcal groups use a similar system, has expanded the tools to explore gene function and regulatory pathways in streptococci. Two other classes of pheromones have been discovered since then, comprising the bacteriocin-inducing peptide class found in Streptococcus mutans (also named CSP, although different from the former) and the SigX-inducing peptides (XIP), in the mutans, salivarius, bovis, and pyogenes groups of streptococci...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27924573/3d-organotypic-culture-model-to-study-components-of-erk-signaling
#19
Athina-Myrto Chioni, Rabia Tayba Bajwa, Richard Grose
Organotypic models are 3D in vitro representations of an in vivo environment. Their complexity can range from an epidermal replica to the establishment of a cancer microenvironment. These models have been used for many years, in an attempt to mimic the structure and function of cells and tissues found inside the body. Methods for developing 3D organotypic models differ according to the tissue of interest and the experimental design. For example, cultures may be grown submerged in culture medium and or at an air-liquid interface...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27921632/access-to-healthcare-services-during-incarceration-among-female-inmates
#20
Rabia Ahmed, Cybele Angel, Rebecca Martel, Diane Pyne, Louanne Keenan
Purpose Incarcerated women have a disproportionate burden of infectious and chronic disease, in addition to substance use disorder and mental health illness, when compared to the general population ( Binswanger et al., 2009 ; Fazel et al., 2006 ; Fuentes, 2013; Kouyoumdjian et al., 2012 ). Women often enter the correctional system in poor health, making incarceration an opportunity to address health issues. The purpose of this paper is to explore the barriers to accessing health services that female inmates face during incarceration, the consequences to their health, and implications for correctional health services delivery...
December 19, 2016: International Journal of Prisoner Health
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