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https://www.readbyqxmd.com/read/29331002/genetics-of-human-hereditary-hearing-impairment
#1
Rahat Meena, Muhammad Ayub
Hereditary hearing impairment is heterogeneous type of disorder which can be caused due to environmental as well as genetical factors. Two distinct types of hereditary hearing loss are syndromic or non-syndromic. Non-syndromic hearing loss is further categorized as autosomal recessive, autosomal dominant, X-linked and mitochondrial deafness. Autosomal recessive occurs more frequently as compared to autosomal dominant. Mutations in various genes are responsible for hereditary hearing impairment. To date, about 99 autosomal recessives and 67 autosomal dominant genes for deafness have been discovered...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29323484/quaternary-layered-semiconductor-ba2cr4gese10-synthesis-crystal-structure-and-thermoelectric-properties
#2
Hong Chen, Yu-Kun Chen, Hua Lin, Jin-Ni Shen, Li-Ming Wu, Xin-Tao Wu
A quaternary narrow-band-gap semiconductor, Ba2Cr4GeSe10, has been discovered by solid-state reaction. It features a new structure type and crystallizes in the triclinic space group P1̅ (No. 2). The featured 2D anionic layers are constructed by condensed CrSe6 octahedra that are stacking along the c axis, with dispersed GeSe4 tetrahedra and located Ba2+ cations forming these layers. The energy-band structure shows a clear separation between the region of electronic conduction and the zone of electronic insulation...
January 11, 2018: Inorganic Chemistry
https://www.readbyqxmd.com/read/29319325/stable-meso-fluorenyl-smaragdyrin-monoradical
#3
Hemanta Kalita, Tullimilli Y Gopalakrishna, Jishan Wu
The facile synthesis and physical characterization of a meso-fluorenyl smaragdyrin monoradical 4, which is stable due to efficient spin delocalization and kinetic blocking, is reported. It has a small energy gap and can be oxidized and reduced into the respective cation and anion, showing different charge distribution and electronic absorption properties.
January 10, 2018: Organic Letters
https://www.readbyqxmd.com/read/29318319/preparation-structure-photoluminescent-and-semiconductive-properties-and-theoretical-calculation-of-a-novel-cadmium-complex-with-mixed-ligands
#4
Xiu-Guang Yi, Wen-Tong Chen, Jian-Gen Huang, Ding-Wa Zhang, Yin-Feng Wang
A novel cadmium complex with mixed ligands [Cd(2,2'-biim)(4,4'-bipy)(H2O)(ClO4)] (ClO4)n (1) (2,2'-biim = 2,2'-biimidazole; 4,4'-bipy = 4,4'-bipyridine) has been synthesized through hydrothermal reaction and its crystal structure was determined by single-crystal X-ray diffraction technique. Single-crystal X-ray diffraction analyses revealed that complex 1 crystallizes in the space group Pna21 of the orthorhombic system and exhibits a one-dimensional zigzag chain structure consisting of [Cd(2,2'-biim)(4,4'-bipy)(H2O)(ClO4)]n n+ cationic chains and isolated ClO4 - anions...
December 2017: Acta Chimica Slovenica
https://www.readbyqxmd.com/read/29311217/the-urine-anion-gap-in-context
#5
EDITORIAL
Daniel Batlle, Sheeba Habeeb Ba Aqeel, Alonso Marquez
No abstract text is available yet for this article.
January 8, 2018: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29302195/can-base-excess-and-anion-gap-predict-lactate-level-in-diagnosis-of-septic-shock
#6
Werapon Pongmanee, Veerapong Vattanavanit
Background: Lactate measurement is the key component in septic shock identification and resuscitation. However, point-of-care lactate testing is not widely used due to the lack of access to nearby test equipment. Biomarkers such as serum lactate, anion gap (AG), and base excess (BE) are used in determining shock in patients with seemingly normal vital signs. Purpose: We aimed to determine if these biomarkers can be used interchangeably in patients with septic shock in the emergency setting...
2018: Open Access Emergency Medicine: OAEM
https://www.readbyqxmd.com/read/29281635/optical-silencing-of-body-wall-muscles-induces-pumping-inhibition-in-caenorhabditis-elegans
#7
Megumi Takahashi, Shin Takagi
Feeding, a vital behavior in animals, is modulated depending on internal and external factors. In the nematode Caenorhabditis elegans, the feeding organ called the pharynx ingests food by pumping driven by the pharyngeal muscles. Here we report that optical silencing of the body wall muscles, which drive the locomotory movement of worms, affects pumping. In worms expressing the Arch proton pump or the ACR2 anion channel in the body wall muscle cells, the pumping rate decreases after activation of Arch or ACR2 with light illumination, and recovers gradually after terminating illumination...
December 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29280008/probing-structure-thermochemistry-electron-affinity-and-magnetic-moment-of-thulium-doped-silicon-clusters-tmsi-n-n%C3%A2-%C3%A2-3-10-and-their-anions-with-density-functional-theory
#8
Xintao Huang, Jucai Yang
The most stable structures and electronic properties of TmSi n (n = 3-10) clusters and their anions have been probed by using the ABCluster global search technique combined with the PBE, TPSSh, and B3LYP density functional methods. The results revealed that the most stable structures of neutral TmSi n and their anions can be regarded as substituting a Si atom of the ground state structure of Si n + 1 with a Tm atom. The reliable AEAs, VDEs and simulated PES of TmSi n (n = 3-10) are presented. Calculations of HOMO-LUMO gap revealed that introducing Tm atom to Si cluster can improve photochemical reactivity of the cluster...
December 26, 2017: Journal of Molecular Modeling
https://www.readbyqxmd.com/read/29278324/ternary-iodido-bismuthates-and-the-special-role-of-copper
#9
Natalie Dehnhardt, Hendrik Borkowski, Johanna Schepp, Ralf Tonner, Johanna Heine
Two new, isostructural members of the title material class, [PPh4]4[Cu2Bi2I12] (1) and [PPh4]4[Ag2Bi2I12] (2), have been prepared via a facile solution route. The crystal structure of both compounds features a tetranuclear [M2Bi2I12]4- (M = Cu, Ag) anion that displays an unprecedented face-sharing mode of connection between BiI6 octahedra and MI4 tetrahedra, enabling close Bi···M contacts. The two compounds allow for a direct experimental and quantum chemical investigation of the influence of group 11 metal cations on the optical and electronic properties of ternary iodido bismuthate anions, indicating that Cu+ is a better electronic match than Ag+, resulting in a significantly lower optical band gap of the copper compound...
December 26, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/29258577/biochemistry-reference-intervals-for-healthy-elderly-population-in-asmara-eritrea
#10
Oliver Okoth Achila, Paulos Semere, Danait Andemichael, Harerta Gherezgihier, Senait Mehari, Adiam Amanuel, Tedalo Yohannes, Eyob Yohaness, Tzegezeab Goje
OBJECTIVE: There is a scarcity of reference interval studies on the elderly in Africa. This study establishes reference interval for the elderly for some commonly used biochemical parameters. In this study, 255 conveniently sampled, healthy elderly, participants meeting Clinical and Laboratory Standards Institute (CLSI C28-A3) guidelines were enrolled. The results obtained may have utility in clinical diagnosis, patient management and research. RESULTS: In general, the consensus reference interval established in this study tended to be higher than reference interval from Caucasian populations; but lower than those obtained from reference interval studies in several African countries...
December 19, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29244220/closing-the-gap-structural-evidence-for-the-missing-hexabromide-dianion-br6-2
#11
Sebastian Hasenstab-Riedel, Karsten Sonnenberg, Patrick Pröhm, Helmut Beckers, Simon Steinhauer, Carsten Müller, Dieter Lentz
The formation and experimental characterization of the first hexabromide dianion is presented. This dianion fills the last remaining gap in the series of polybromides from the tribromide [Br3]- to the undecabromide [Br11]-. The experimental results are compared to quantum-chemical calculations. These calculations predict¬ - based on electrostatic interactions - a T-structure for the hexabromide dianion, while halogen-halogen bonding favors the hockey-stick like structure experimentally found in the solid-state structure...
December 15, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29240424/somo-homo-level-inversion-in-biologically-important-radicals
#12
Anil Kumar, Michael D Sevilla
Conventionally, the singly occupied molecular orbital (SOMO) of a radical species is considered to be the highest occupied molecular orbital but this is not the case always. In this study, we considered a number of radicals from smallest diatomic anion radicals such as superoxide anion radical to one-electron oxidized DNA related base radicals which show the SOMO is energetically lower than one or more doubly occupied MOs (SOMO-HOMO level inversion). The electronic configurations are calculated employing the B3LYP/6-31++G** method with the inclusion of aqueous phase via the IEF-PCM solvation model...
December 14, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/29240405/re-so4-b-oh-4-h2o-re-so4-b-oh-4-h2o-2-and-re-so4-b-oh-4-h2o-%C3%A2-h2o-rare-earth-borate-sulfates-featuring-three-types-of-layered-structures
#13
Wen-Wen Wang, Xiang Xu, Jin-Tao Kong, Jiang-Gao Mao
Using hydrothermal reactions, three series of rare-earth borate-sulfates, namely, RE(SO4)[B(OH)4](H2O) (RE = La (1), Sm (2), Eu (3)), RE(SO4)[B(OH)4](H2O)2 (RE = Pr (4), Nd (5), Sm (6), Eu (7), Gd (8)), and RE(SO4)[B(OH)4](H2O)·H2O (RE = Tb (9), Dy (10), Ho (11), Er (12), Tm (13), Yb (14), Lu (15), Y (16)), have been synthesized, which represent the first rare-earth borate-sulfate mixed-anion compounds. All these compounds possess the same fundamental building anionic units of SO4 and B(OH)4 tetrahedra; however, they exhibit three different types of two-dimensional (2D) layered structures composed of 1D RE-B-O and RE-S-O chains...
December 14, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/29240395/narrow-band-gap-conjugated-polyelectrolytes
#14
Qiuhong Cui, Guillermo C Bazan
Two essential structural elements define a class of materials called conjugated polyelectrolytes (CPEs). The first is a polymer framework with an electronically delocalized, π-conjugated structure. This component allows one to adjust desirable optical and electronic properties, for example the range of wavelengths absorbed, emission quantum yields, electron affinity, and ionization potential. The second defining feature is the presence of ionic functionalities, which are usually linked via tethers that can modulate the distance of the charged groups relative to the backbone...
December 14, 2017: Accounts of Chemical Research
https://www.readbyqxmd.com/read/29236470/a-case-study-application-of-the-aggregate-exposure-pathway-aep-and-adverse-outcome-pathway-aop-frameworks-to-facilitate-the-integration-of-human-health-and-ecological-endpoints-for-cumulative-risk-assessment-cra
#15
David E Hines, Stephen Edwards, Rory B Conolly, Annie M Jarabek
Cumulative risk assessment (CRA) methods promote the use of a conceptual site model (CSM) to apportion exposures and integrate risk from multiple stressors. While CSMs may encompass multiple species, evaluating endpoints across taxa can be challenging due to data availability and physiological differences among organisms. Adverse Outcome Pathways (AOPs) describe biological mechanisms leading to adverse outcomes (AOs) by assembling causal pathways with measurable intermediate steps termed key events (KEs), thereby providing a framework for integrating data across species...
December 13, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/29230299/predictors-of-acute-gastrointestinal-bleeding-in-diabetic-ketoacidosis-a-retrospective-observational-study-in-minority-population
#16
Kanthi Rekha Badipatla, Preeti Jadhav, Sushma Vaddigiri, Bharat Bajantri, Amandeep Singh, Chaitanya Chandrala, Vijay S Are, Suresh Kumar Nayudu
Background: Diabetic ketoacidosis (DKA) is a common acute complication of diabetes mellitus requiring aggressive medical management. We attempted to study the incidence and various clinical and laboratory variables associated with acute gastrointestinal bleeding (AGIB) and acute upper AGIB (AUGIB) in patients with DKA. Methods: We conducted a retrospective chart review of all the patients admitted to our hospital with DKA between January 2010 and December 2015. We collected demographic, clinical, laboratory, endoscopy and hospitalization details using an electronic medical-record database...
November 2017: Gastroenterology Report
https://www.readbyqxmd.com/read/29218437/d-lactic-acidosis-in-humans-systematic-literature-review
#17
Davide G A M Bianchetti, Giacomo S Amelio, Sebastiano A G Lava, Mario G Bianchetti, Giacomo D Simonetti, Carlo Agostoni, Emilio F Fossali, Gregorio P Milani
BACKGROUND: D-lactic acidosis is an uncommon and challenging form of metabolic acidosis that may develop in short bowel syndrome. It has been documented exclusively in case reports and small case series. METHODS: We performed a review of the literature in the National Library of Medicine and Excerpta Medica databases. RESULTS: We identified 84 original reports published between 1977 and 2017. D-lactic acidosis was observed in 98 individuals ranging in age from 7 months to 86 years with short bowel syndrome...
December 7, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29207797/audit-of-organic-acidurias-from-a-single-centre-clinical-and-metabolic-profile-at-presentation-with-long-term-outcome
#18
Seema Pavaman Sindgikar, Krithika Damodar Shenoy, Nutan Kamath, Rathika Shenoy
Introduction: Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported. Aim: To study the clinical and metabolic presentation, management with immediate and long term outcome of symptomatic children with confirmed OA. Materials and Methods: Hospital based study of symptomatic children diagnosed to have OA between 2003 and 2009 and the survivors followed up over next five years...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29206119/preparation-and-characterization-of-two-new-cuii-supramolecular-coordination-polymers-incorporating-sulfobenzoate-and-flexible-heterocyclic-ligands
#19
Xin Chu, Kou Lin Zhang
The assembly of CuII with the multifunctional ligand 2-amino-4-sulfobenzoic acid (H2asba) in the presence of the auxiliary flexible ligands 1,4-bis(triazol-1-ylmethyl)benzene (bbtz) and 1,4-bis(imidazol-1-ylmethyl)benzene (bix) under ambient conditions resulted in two new supramolecular coordination polymers, namely poly[[(3-amino-4-carboxybenzenesulfonato-κO)aquabis[μ2-1,4-bis(triazol-1-ylmethyl)benzene-κ2N4:N4']copper(II)] 3-amino-4-carboxybenzenesulfonate tetrahydrate], {[Cu(C7H6NO5S)(C12H12N6)2(H2O)](C7H6NO5S)·4H2O}n, (1), and poly[[bis(μ2-2-amino-4-sulfonatobenzoato-κ3O1:N,O1')tetraaqua[μ2-1,4-bis(triazol-1-ylmethyl)benzene-κ2N4:N4']dicopper(II)] tetrahydrate], {[Cu2(C7H5NO5S)2(C14H14N4)(H2O)4]·4H2O}n, (2)...
December 1, 2017: Acta Crystallographica. Section C, Structural Chemistry
https://www.readbyqxmd.com/read/29202719/an-in-vitro-splicing-assay-reveals-the-pathogenicity-of-a-novel-intronic-variant-in-atp6v0a4-for-autosomal-recessive-distal-renal-tubular-acidosis
#20
Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Shogo Minamikawa, Nobuo Mori, Rika Fujimaru, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Taniguchi-Ikeda Mariko, Ichiro Morioka, Masafumi Matsuo, Kazumoto Iijima
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis. Although several intronic nucleotide variants in these genes have been detected, all of them fell in the apparent splice consensus sequence. In general, transcriptional analysis is necessary to determine the effect on function of the novel intronic variants located out of splicing consensus sequences...
December 4, 2017: BMC Nephrology
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