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https://www.readbyqxmd.com/read/27922248/recessive-congenital-methemoglobinemia-in-immediate-generations
#1
Deniz Aslan, Gülsan Türköz-Sucak, Melanie Joan Percy
We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extremely rare mutation (Arg50Gln) causing this disorder in the Turkish population.
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922245/a-novel-mutation-in-a-case-of-pseudohypoparathyroidism-type-ia
#2
Birgül Kırel, Meliha Demiral, Özkan Bozdağ, Kadri Karaer
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His calcium level remained within normal levels after vitamin D treatment, but, elevated PTH and ALP levels and normal-high phosphate levels persisted during his follow-up by age of 2...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922231/evaluation-of-central-nervous-system-in-patients-with-glycogen-storage-disease-type-1a
#3
Yusuf Aydemir, Figen Gürakan, İnci Nur Saltık Temizel, Hülya Demir, Kader Karlı Oğuz, Dilek Yalnızoğlu, Meral Topçu, Hasan Özen, Aysel Yüce
We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922203/vulnerability-to-alcohol-related-problems-a-policy-brief-with-implications-for-the-regulation-of-alcohol-marketing
#4
Thomas F Babor, Katherine Robaina, Jonathan K Noel, E Bruce Ritson
BACKGROUND AND AIMS: The concern that alcohol advertising can have detrimental effects on vulnerable viewers has prompted the development of codes of responsible advertising practices. This paper evaluates critically the concept of vulnerability as it applies to (1) susceptibility to alcohol-related harm and (2) susceptibility to the effects of marketing, and describes its implications for the regulation of alcohol marketing. METHOD: We describe the findings of key published studies, review papers and expert reports to determine whether these two types of vulnerability apply to population groups defined by (1) age and developmental history; (2) personality characteristics; (3) family history of alcoholism; (4) female sex and pregnancy risk; and (5) history of alcohol dependence and recovery status...
December 6, 2016: Addiction
https://www.readbyqxmd.com/read/27922148/a-case-of-a-patient-with-neurofibromatosis-type-i-presenting-with-abdominal-pain
#5
Shi Yuan Wang, Tien Jin Tan
No abstract text is available yet for this article.
November 2016: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/27922143/attitudes-and-concerns-of-diabetic-patients-towards-bariatric-surgery-as-treatment-of-diabetes
#6
Hui Wen Chua, Hui Jun Zhou, Chin Meng Khoo, Asim Shabbir, Davide Lomanto, Jimmy By So
INTRODUCTION: Bariatric surgery is increasingly recognised as an effective treatment for type 2 diabetes that significantly improves glycaemic control, even achieving remission. This study examined perceptions and concerns of diabetic patients towards bariatric surgery as a treatment option for diabetes. MATERIALS AND METHODS: A total of 150 patients were recruited from a specialised diabetic outpatient clinic and completed a questionnaire (items were rated on a Likert scale from slightly important [lowest score of 1] to extremely important [maximum score of 5])...
November 2016: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/27922139/are-low-sun-exposure-and-or-vitamin-d-risk-factors-for-type-1-diabetes
#7
K M Miller, P H Hart, N H de Klerk, E A Davis, R M Lucas
The global variation in type 1 diabetes (T1D) incidence rates is one of the most significant observed for any non-communicable disease. Geographical patterns in incidence suggest that low sun exposure may contribute to the wide disparity, with incidence rates generally increasing with distance from the Equator. T1D development is associated with hyperactivity of the adaptive immune system leading to autoimmune destruction of insulin-secreting pancreatic β cells. Both exposure to ultraviolet radiation (UVR) and vitamin D, with their known immunosuppressive effects, have the potential to delay or inhibit the disease...
December 6, 2016: Photochemical & Photobiological Sciences
https://www.readbyqxmd.com/read/27922122/identification-of-critical-paralog-groups-with-indispensable-roles-in-the-regulation-of-signaling-flow
#8
Dezso Modos, Johanne Brooks, David Fazekas, Eszter Ari, Tibor Vellai, Peter Csermely, Tamas Korcsmaros, Katalin Lenti
Extensive cross-talk between signaling pathways is required to integrate the myriad of extracellular signal combinations at the cellular level. Gene duplication events may lead to the emergence of novel functions, leaving groups of similar genes - termed paralogs - in the genome. To distinguish critical paralog groups (CPGs) from other paralogs in human signaling networks, we developed a signaling network-based method using cross-talk annotation and tissue-specific signaling flow analysis. 75 CPGs were found with higher degree, betweenness centrality, closeness, and 'bowtieness' when compared to other paralogs or other proteins in the signaling network...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922115/perilipin-5-fine-tunes-lipid-oxidation-to-metabolic-demand-and-protects-against-lipotoxicity-in-skeletal-muscle
#9
Claire Laurens, Virginie Bourlier, Aline Mairal, Katie Louche, Pierre-Marie Badin, Etienne Mouisel, Alexandra Montagner, André Marette, Angelo Tremblay, John S Weisnagel, Hervé Guillou, Dominique Langin, Denis R Joanisse, Cedric Moro
Lipid droplets (LD) play a central role in lipid homeostasis by controlling transient fatty acid (FA) storage and release from triacylglycerols stores, while preventing high levels of cellular toxic lipids. This crucial function in oxidative tissues is altered in obesity and type 2 diabetes. Perilipin 5 (PLIN5) is a LD protein whose mechanistic and causal link with lipotoxicity and insulin resistance has raised controversies. We investigated here the physiological role of PLIN5 in skeletal muscle upon various metabolic challenges...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922110/%C3%AE-h2ax-53bp1-pkap-1-foci-and-their-linear-tracks-induced-by-in-vitro-exposure-to-radon-and-its-progeny-in-human-peripheral-blood-lymphocytes
#10
Defang Ding, Yaping Zhang, Jing Wang, Xufei Wang, Dunhuang Fan, Linfeng He, Xuxia Zhang, Yun Gao, Qiang Li, Honghong Chen
The biodosimetric information is critical for evaluating the human health hazards caused by radon and its progeny. Here, we demonstrated that the formation of phosphorylated histone variant H2AX (γ-H2AX), p53-binding protein 1 (53BP1) and phosphorylated KRAB-associated protein 1 (pKAP-1) foci and their linear tracks in human peripheral blood lymphocytes (HPBLs) in vitro exposed to radon and its progeny were dependent on the cumulative absorbed dose of radon exposure but was unrelated to the concentration of radon...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922104/transistor-properties-of-2-7-dialkyl-substituted-phenanthro-2-1-b-7-8-b-dithiophene
#11
Yoshihiro Kubozono, Keita Hyodo, Shino Hamao, Yuma Shimo, Hiroki Mori, Yasushi Nishihara
A new phenacene-type molecule with five fused aromatic rings was synthesized: 2,7-didodecylphenanthro[2,1-b:7,8-b']dithiophene ((C12H25)2-i-PDT), with two terminal thiophene rings. Field-effect transistors (FETs) using thin films of this molecule were fabricated using various gate dielectrics, showing p-channel normally-off FET properties with field-effect mobilities (μ) greater than 1 cm(2) V(-1) s(-1). The highest μ value in the thin-film FETs fabricated in this study was 5.4 cm(2) V(-1) s(-1), when a 150 nm-thick ZrO2 gate dielectric was used...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922091/an-increased-duplication-of-zrs-region-that-caused-more-than-one-supernumerary-digits-preaxial-polydactyly-in-a-large-chinese-family
#12
Bin Wang, Yutao Diao, Qiji Liu, Hongqiang An, Ruiping Ma, Guosheng Jiang, Nannan Lai, Ziwei Li, Xiaoxiao Zhu, Lin Zhao, Qiang Guo, Zhen Zhang, Rong Sun, Xia Li
Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD4) and Triphalangeal thumb-polysyndactyly syndrome (TPTPS). Most previously reported cases involved with no more than one extra finger; however, the role of the point mutation or genomic duplications of ZRS in the case of more than one redundant finger polydactyly remains unclear...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922089/elderly-patients-have-an-altered-gut-brain-axis-regardless-of-the-presence-of-cirrhosis
#13
Jasmohan S Bajaj, Vishwadeep Ahluwalia, Joel L Steinberg, Sarah Hobgood, Peter A Boling, Michael Godschalk, Saima Habib, Melanie B White, Andrew Fagan, Edith A Gavis, Dinesh Ganapathy, Phillip B Hylemon, Karen E Stewart, Raffi Keradman, Eric J Liu, Jessica Wang, Patrick M Gillevet, Masoumeh Sikaroodi, F Gerard Moeller, James B Wade
Cognitive difficulties manifested by the growing elderly population with cirrhosis could be amnestic (memory-related) or non-amnestic (memory-unrelated). The underlying neuro-biological and gut-brain changes are unclear in this population. We aimed to define gut-brain axis alterations in elderly cirrhotics compared to non-cirrhotic individuals based on presence of cirrhosis and on neuropsychological performance. Age-matched outpatients with/without cirrhosis underwent cognitive testing (amnestic/non-amnestic domains), quality of life (HRQOL), multi-modal MRI (fMRI go/no-go task, volumetry and MR spectroscopy), blood (inflammatory cytokines) and stool collection (for microbiota)...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922085/diversity-of-major-urinary-proteins-mups-in-wild-house-mice
#14
Michaela Thoß, Viktoria Enk, Hans Yu, Ingrid Miller, Kenneth C Luzynski, Boglarka Balint, Steve Smith, Ebrahim Razzazi-Fazeli, Dustin J Penn
Major urinary proteins (MUPs) are often suggested to be highly polymorphic, and thereby provide unique chemical signatures used for individual and genetic kin recognition; however, studies on MUP variability have been lacking. We surveyed populations of wild house mice (Mus musculus musculus), and examined variation of MUP genes and proteins. We sequenced several Mup genes (9 to 11 loci) and unexpectedly found no inter-individual variation. We also found that microsatellite markers inside the MUP cluster show remarkably low levels of allelic diversity, and significantly lower than the diversity of markers flanking the cluster or other markers in the genome...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922069/formation-mechanism-of-ruddlesden-popper-type-antiphase-boundaries-during-the-kinetically-limited-growth-of-sr-rich-srtio3-thin-films
#15
Chencheng Xu, Hongchu Du, Alexander J H van der Torren, Jan Aarts, Chun-Lin Jia, Regina Dittmann
We elucidated the formation process for Ruddlesden-Popper-type defects during pulsed laser deposition of Sr rich SrTiO3 thin films by a combined analysis of in-situ atomic force microscopy, low energy electron diffraction and high resolution scanning transmission electron microscopy. At the early growth stage of 1.5 unit cells, the excess Sr results in the formation of SrO on the surface, resulting in a local termination change from TiO2 to SrO, thereby forming a Sr rich (2 × 2) surface reconstruction...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922068/changes-in-retinal-nerve-fiber-layer-thickness-after-multiple-injections-of-novel-vegf-decoy-receptor-conbercept-for-various-retinal-diseases
#16
Zhihua Zhang, Xiaolu Yang, Huiyi Jin, Yuan Qu, Yuan Zhang, Kun Liu, Xun Xu
Conbercept is a recombinant fusion protein with high affinity for all vascular endothelial growth factor isoforms and placental growth factor. The repeated intravitreal injection of conbercept may cause intraocular pressure (IOP) fluctuations and long-term suppression of neurotrophic cytokines, which could lead to retinal nerve fiber layer (RNFL) damage. This retrospective fellow-eye controlled study included 98 eyes of 49 patients. The changes in IOP and RNFL thickness as well as the correlation between RNFL changes and associated factors were evaluated...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922067/immune-activation-influences-samhd1-expression-and-vpx-mediated-samhd1-degradation-during-chronic-hiv-1-infection
#17
Weihui Fu, Chao Qiu, Mingzhe Zhou, Lingyan Zhu, Yu Yang, Chenli Qiu, Linxia Zhang, Xuan Xu, Ying Wang, Jianqing Xu, Xiaoyan Zhang
SAMHD1 restricts human immunodeficiency virus type 1 (HIV-1) replication in myeloid cells and CD4(+) T cells, while Vpx can mediate SAMHD1 degradation to promote HIV-1 replication. Although the restriction mechanisms of SAMHD1 have been well-described, SAMHD1 expression and Vpx-mediated SAMHD1 degradation during chronic HIV-1 infection were poorly understood. Flow cytometric analysis was used to directly visualize ex vivo, and after in vitro SIV-Vpx treatment, SAMHD1 expression in CD4(+) T cells and monocytes...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922063/design-and-mechanistic-insight-into-ultrafast-calcium-indicators-for-monitoring-intracellular-calcium-dynamics
#18
Nordine Helassa, Borbala Podor, Alan Fine, Katalin Török
Calmodulin-based genetically encoded fluorescent calcium indicators (GCaMP-s) are powerful tools of imaging calcium dynamics from cells to freely moving animals. High affinity indicators with slow kinetics however distort the temporal profile of calcium transients. Here we report the development of reduced affinity ultrafast variants of GCaMP6s and GCaMP6f. We hypothesized that GCaMP-s have a common kinetic mechanism with a rate-limiting process in the interaction of the RS20 peptide and calcium-calmodulin...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922058/edge-enhancement-improves-disruptive-camouflage-by-emphasising-false-edges-and-creating-pictorial-relief
#19
John Egan, Rebecca J Sharman, Kenneth C Scott-Brown, Paul George Lovell
Disruptive colouration is a visual camouflage composed of false edges and boundaries. Many disruptively camouflaged animals feature enhanced edges; light patches are surrounded by a lighter outline and/or a dark patches are surrounded by a darker outline. This camouflage is particularly common in amphibians, reptiles and lepidopterans. We explored the role that this pattern has in creating effective camouflage. In a visual search task utilising an ultra-large display area mimicking search tasks that might be found in nature, edge enhanced disruptive camouflage increases crypsis, even on substrates that do not provide an obvious visual match...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922051/catalysis-and-structure-of-zebrafish-urate-oxidase-provide-insights-into-the-origin-of-hyperuricemia-in-hominoids
#20
Marialaura Marchetti, Anastasia Liuzzi, Beatrice Fermi, Romina Corsini, Claudia Folli, Valentina Speranzini, Francesco Gandolfi, Stefano Bettati, Luca Ronda, Laura Cendron, Rodolfo Berni, Giuseppe Zanotti, Riccardo Percudani
Urate oxidase (Uox) catalyses the first reaction of oxidative uricolysis, a three-step enzymatic pathway that allows some animals to eliminate purine nitrogen through a water-soluble compound. Inactivation of the pathway in hominoids leads to elevated levels of sparingly soluble urate and puts humans at risk of hyperuricemia and gout. The uricolytic activities lost during evolution can be replaced by enzyme therapy. Here we report on the functional and structural characterization of Uox from zebrafish and the effects on the enzyme of the missense mutation (F216S) that preceded Uox pseudogenization in hominoids...
December 6, 2016: Scientific Reports
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