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https://www.readbyqxmd.com/read/27922245/a-novel-mutation-in-a-case-of-pseudohypoparathyroidism-type-ia
#1
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/27916741/design-and-principle-of-operation-of-the-heartmate-phptm-percutaneous-heart-pump
#2
N M Van Mieghem, Joost Daemen, Corstiaan den Uil, Onur Dur, Linda Joziasse, AnneMarie Maugenest, Keif Fitzgerald, Chris Parker, Paul Muller, Robert-Jan van Geuns
The HeartMate PHP (Percutaneous Heart Pump) is a second-generation transcatheter axial flow circulatory support system. The collapsible catheter pump is inserted through a 14F sheath, deployed across the aortic valve expanding to 24F and able to deliver up to 5L/min blood flow at minimum hemolytic risk. As such this device may be a valuable adjunct to percutaneous coronary intervention (PCI) of challenging lesions in high-risk patients or treatment of cardiogenic shock. This technical report discusses: (i) the HeartMate PHP concept, (ii) the implantation technique, (iii) the hemodynamic performance in an in vitro cardiovascular flow testing setup and (iv) preliminary clinical experience...
December 6, 2016: EuroIntervention
https://www.readbyqxmd.com/read/27911042/orderly-layered-zr-benzylphosphonate-nanohybrids-for-efficient-acid-base-mediated-bifunctional-cascade-catalysis
#3
Hu Li, Zhen Fang, Jian He, Song Yang
The development of functional metal-organic materials being robust and active for bifunctional/cascade catalysis is of great significance. Herein, a series of mesoporous and orderly layered nanohybrids were synthesized for the first time via simple and template-free assembly of ortho-, meta-, or para-xylylenediphosphonates (o-, p-, or m-PhP) with zirconium. It was found that m-PhPZr nanoparticles (20-50 nm) with mesopores centered at 7.9 nm and high Lewis acid/base site ratio (1:0.7) showed prominent performance under mild conditions (as low as 82 ºC) in transfer hydrogenation of carbonyl compounds including bio-aldehydes to alcohols with near quantative yields and little Zr leaching...
December 2, 2016: ChemSusChem
https://www.readbyqxmd.com/read/27905517/g4ipdb-a-database-for-g-quadruplex-structure-forming-nucleic-acid-interacting-proteins
#4
Subodh Kumar Mishra, Arpita Tawani, Amit Mishra, Amit Kumar
Nucleic acid G-quadruplex structure (G4) Interacting Proteins DataBase (G4IPDB) is an important database that contains detailed information about proteins interacting with nucleic acids that forms G-quadruplex structures. G4IPDB is the first database that provides comprehensive information about this interaction at a single platform. This database contains more than 200 entries with details of interaction such as interacting protein name and their synonyms, their UniProt-ID, source organism, target name and its sequences, ∆Tm, binding/dissociation constants, protein gene name, protein FASTA sequence, interacting residue in protein, related PDB entries, interaction ID, graphical view, PMID, author's name and techniques that were used to detect their interactions...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27888793/inverpep-a-database-of-invertebrate-antimicrobial-peptides
#5
Esteban A Gómez, Paula Giraldo, Sergio Orduz
OBJECTIVES: The aim of this work was to construct InverPep, a database specialised in experimentally validated antimicrobial peptides (AMPs) from invertebrates. METHODS: AMP data contained in InverPep were manually curated from other databases and the scientific literature. MySQL was integrated with the development platform Laravel; this framework allows to integrate programming in PHP with HTML and was used to design the InverPep web page's interface. InverPep contains 18 separated fields, including InverPep code, phylum and species source, peptide name, sequence, peptide length, secondary structure, molar mass, charge, isoelectric point, hydrophobicity, Boman index, aliphatic index and percentage of hydrophobic amino acids...
November 19, 2016: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/27882740/sporadic-pseudohypoparathyroidism-type-1b-with-asymptomatic-hypocalcemia
#6
Motohide Goto, Yukiyo Yamamoto, Masahiro Ishii, Akie Nakamura, Shinichiro Sano, Masayo Kagami, Maki Fukami, Reiko Saito, Shunsuke Araki, Kazuyasu Kubo, Rinko Kawagoe, Yasusada Kawada, Koichi Kusuhara
Pseudohypoparathyroidism type 1b (PHP-1b) is usually diagnosed on various symptoms of hypocalcemia. Previous studies reported a few cases of autosomal dominant pattern PHP-1b identified on familial analysis with asymptomatic hypocalcemia. Herein we report the case of a 6-year-old male patient with sporadic PHP-1b incidentally detected on preoperative examination. He had neither characteristic findings of Albright hereditary osteodystrophy nor evidence of tetany. Sporadic PHP-1b was diagnosed on the basis of clinical observation and laboratory examination...
November 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27871293/genetic-and-epigenetic-alterations-in-the-gnas-locus-and-clinical-consequences-in-pseudohypoparathyroidism-italian-common-healthcare-pathways-adoption
#7
L de Sanctis, F Giachero, G Mantovani, G Weber, M Salerno, G I Baroncelli, M F Elli, P Matarazzo, M Wasniewska, L Mazzanti, G Scirè, D Tessaris
BACKGROUND: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders...
November 21, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27867348/better-targeting-better-efficiency-for-wide-scale-neuronal-transduction-with-the-synapsin-promoter-and-aav-php-b
#8
Kasey L Jackson, Robert D Dayton, Benjamin E Deverman, Ronald L Klein
Widespread genetic modification of cells in the central nervous system (CNS) with a viral vector has become possible and increasingly more efficient. We previously applied an AAV9 vector with the cytomegalovirus/chicken beta-actin (CBA) hybrid promoter and achieved wide-scale CNS transduction in neonatal and adult rats. However, this method transduces a variety of tissues in addition to the CNS. Thus we studied intravenous AAV9 gene transfer with a synapsin promoter to better target the neurons. We noted in systematic comparisons that the synapsin promoter drives lower level expression than does the CBA promoter...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27863142/identification-and-analytical-characterization-of-nine-synthetic-cathinone-derivatives-n-ethylhexedrone-4-cl-pentedrone-4-cl-%C3%AE-eapp-propylone-n-ethylnorpentylone-6-meo-bk-mdma-%C3%AE-pihp-4-cl-%C3%AE-php-and-4-f-%C3%AE-php
#9
Cuimei Liu, Wei Jia, Tao Li, Zhendong Hua, Zhenhua Qian
Clinical and forensic toxicology laboratories are continuously confronted by analytical challenges when dealing with the new psychoactive substances phenomenon. In this study, the analytical characterization of nine synthetic cathinones is described: 2-(ethylamino)-1-phenylhexan-1-one (N-ethylhexedrone 1), 1-(4-chlorophenyl)-2-(methylamino)pentan-1-one (4-Cl-pentedrone 2), 1-(4-chlorophenyl)-2-(ethylamino)pentan-1-one (4-Cl-α-EAPP 3), 1-(3,4-methylenedioxyphenyl)-2-propylaminopropan-1-one (propylone 4), 1-(3,4-methylenedioxyphenyl)-2-ethylaminopentan-1-one (N-ethylnorpentylone 5), 1-(6-methoxy-3,4-methylenedioxyphenyl)-2-methylaminopropan-1-one (6-MeO-bk-MDMA 6), 4-methyl-1-phenyl-2-(pyrrolidin-1-yl)pentan-1-one (α-PiHP 7), 1-(4-chlorophenyl)-2-(pyrrolidin-1-yl)hexan-1-one (4-Cl-α-PHP 8), and 1-(4-fluorophenyl)-2-(pyrrolidin-1-yl)hexan-1-one (4-F-α-PHP 9)...
November 9, 2016: Drug Testing and Analysis
https://www.readbyqxmd.com/read/27857805/neuropsychiatric-phenotype-in-a-child-with-pseudohypoparathyroidism
#10
Paola Visconti, Annio Posar, Maria Cristina Scaduto, Angelo Russo, Federica Tamburrino, Laura Mazzanti
Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, heterogeneous neurological and psychiatric disorders have been reported which are associated with hypoparathyroidism in general and with PHP in particular, while for childhood, data are scanty. We report a case of a boy with PHP type 1b, in whom neurological signs at the onset prevailed, characterized by tic-like dyskinesias associated with a series of heterogeneous not well-defined neurological and behavioral features, describing the diagnostic work-up performed and the follow-up...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27857711/in-vitro-effectiveness-of-commercial-bacteriophage-cocktails-on-diverse-extended-spectrum-beta-lactamase-producing-escherichia-coli-strains
#11
Aycan Gundogdu, Darajen Bolkvadze, Huseyin Kilic
The objective of this study is to determine the in vitro susceptibility of Georgian bacteriophage cocktails on multidrug resistant (MDR) extended-spectrum beta-lactamase producing Escherichia coli (ESBL-EC) isolated from patients' blood and urine cultures. A total of 615 E. coli isolates were included in this study. Phene Plate (PhP)-typing and phylogenetic grouping were used for the typing. Antimicrobial resistance profiles and ESBL production of all isolates were confirmed according to Clinical and Laboratory Standards Institute (CLSI) criteria...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27828989/predicted-enhanced-human-propensity-of-current-avian-like-h1n1-swine-influenza-virus-from-china
#12
Veljko Veljkovic, Nevena Veljkovic, Slobodan Paessler, Marco Goeijenbier, Vladimir Perovic, Sanja Glisic, Claude P Muller
Influenza A virus (IAV) subtypes against which little or no pre-existing immunity exists in humans represent a serious threat to global public health. Monitoring of IAV in animal hosts is essential for early and rapid detection of potential pandemic IAV strains to prevent their spread. Recently, the increased pandemic potential of the avian-like swine H1N1 IAV A/swine/Guangdong/104/2013 has been suggested. The virus is infectious in humans and the general population seems to lack neutralizing antibodies against this virus...
2016: PloS One
https://www.readbyqxmd.com/read/27817891/biogenic-platinum-and-palladium-nanoparticles-as-new-catalysts-for-the-removal-of-pharmaceutical-compounds
#13
Mónica Martins, Cláudia Mourato, Sandra Sanches, João Paulo Noronha, M T Barreto Crespo, Inês A C Pereira
Pharmaceutical products (PhP) are one of the most alarming emergent pollutants in the environment. Therefore, it is of extreme importance to investigate efficient PhP removal processes. Biologic synthesis of platinum nanoparticles (Bio-Pt) has been reported, but their catalytic activity was never investigated. In this work, we explored the potential of cell-supported platinum (Bio-Pt) and palladium (Bio-Pd) nanoparticles synthesized with Desulfovibrio vulgaris as biocatalysts for removal of four PhP: ciprofloxacin, sulfamethoxazole, ibuprofen and 17β-estradiol...
January 1, 2017: Water Research
https://www.readbyqxmd.com/read/27809604/video-assisted-thoracic-lobectomy-for-lung-cancer-in-italy-the-vats-group-project
#14
Roberto Crisci, Andrea Droghetti, Marcello Migliore, Alessandro Bertani, Alessandro Gonfiotti, Piergiorgio Solli
As part of the third Mediterranean Symposium in Thoracic Surgical Oncology, we introduce the Italian VATS Group ( http://vatsgroup.org/sito/index.php ). This national collaborative initiative was established in 2013 and started to recruit patients in January 2014; as of July 2016, 3680 patients have been enrolled in the database. Three different video-assisted thoracic surgery approaches have been predominantly used by Italian thoracic surgery centers, 71% of them preferentially adopting a multi-portal approach, with a 20% recorded morbidity...
November 4, 2016: Future Oncology
https://www.readbyqxmd.com/read/27801912/physicians-at-high-risk-for-suicide-in-us-incidence-higher-in-women-doctors-physician-health-programs-php-offer-confidential-treatment
#15
Herbert Rakatansky
No abstract text is available yet for this article.
November 1, 2016: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/27799294/structure-activity-relationships-of-substituted-cathinones-with-transporter-binding-uptake-and-release
#16
Amy J Eshleman, Katherine M Wolfrum, John F Reed, Sunyoung O Kim, Tracy Swanson, Robert A Johnson, Aaron Janowsky
Synthetic cathinones are components of "bath salts" and have physical and psychologic side effects, including hypertension, paranoia, and hallucinations. Here, we report interactions of 20 "bath salt" components with human dopamine, serotonin, and norepinephrine transporters [human dopamine transporter (hDAT), human serotonin transporter (hSERT), and human norepinephrine transporter (hNET), respectively] heterologously expressed in human embryonic kidney 293 cells. Transporter inhibitors had nanomolar to micromolar affinities (Ki values) at radioligand binding sites, with relative affinities of hDAT>hNET>hSERT for α-pyrrolidinopropiophenone (α-PPP), α-pyrrolidinobutiophenone, α-pyrrolidinohexiophenone, 1-phenyl-2-(1-pyrrolidinyl)-1-heptanone, 3,4-methylenedioxy-α-pyrrolidinopropiophenone, 3,4-methylenedioxy-α-pyrrolidinobutiophenone, 4-methyl-α-pyrrolidinopropiophenone, α-pyrrolidinovalerophenone, 4-methoxy-α-pyrrolidinovalerophenone, α-pyrrolidinopentiothiophenone (alpha-PVT), and α-methylaminovalerophenone, and hDAT>hSERT>hNET for methylenedioxypentedrone...
January 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/27799176/i-v-paracetamol-as-an-adjunct-to-patient-controlled-epidural-analgesia-with-levobupivacaine-and-fentanyl-in-labour-a-randomized-controlled-study
#17
K Gupta, S Mitra, S Kazal, R Saroa, V Ahuja, P Goel
BACKGROUND: Use of i.v. paracetamol for postoperative pain is well documented, but it is unclear if it can reduce the consumption of opioids during patient-controlled epidural analgesia (PCEA) in labouring parturients. METHODS: In this randomized, double-blind, placebo-controlled clinical trial conducted in a tertiary care hospital, (80)parturients were randomly assigned to two groups of 40 each, to receive either 1000 mg (100 ml) i.v. paracetamol or 100 ml normal saline as placebo, 30 min before the procedure...
November 2016: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/27798773/chemosaturation-percutaneous-hepatic-perfusion-a-systematic-review
#18
REVIEW
Arndt Vogel, Sanjay Gupta, Martin Zeile, Rebecca von Haken, Roland Brüning, Gösta Lotz, Alexander Vahrmeijer, Thomas Vogl, Frank Wacker
: The Hepatic CHEMOSAT(®) Delivery System is an innovative medical device for the treatment of patients with unresectable primary liver tumors or unresectable hepatic metastases from solid organ malignancies. This system is used to perform chemosaturation percutaneous hepatic perfusion (CS-PHP), a procedure in which a high dose of the chemotherapeutic agent melphalan is delivered directly to the liver while limiting systemic exposure. In a clinical trial program, CS-PHP with melphalan significantly improved hepatic progression-free survival in patients with unresectable hepatic metastases from ocular or cutaneous melanoma...
October 31, 2016: Advances in Therapy
https://www.readbyqxmd.com/read/27797762/clip-tool-kit-ctk-a-flexible-and-robust-pipeline-to-analyze-clip-sequencing-data
#19
Ankeeta Shah, Yingzhi Qian, Sebastien M Weyn-Vanhentenryck, Chaolin Zhang
: UV cross-linking and immunoprecipitation (CLIP), followed by high-throughput sequencing, is a powerful biochemical assay that maps in vivo protein-RNA interactions on a genome-wide scale. The CLIP Tool Kit (CTK) aims at providing a set of tools for flexible, streamlined, comprehensive CLIP data analysis. This software package extends the scope of our original CIMS package. AVAILABILITY AND IMPLEMENTATION: The software is implemented in Perl. The source code and detailed documentation are available at http://zhanglab...
October 22, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27795739/the-open-spectral-database-an-open-platform-for-sharing-and-searching-spectral-data
#20
Stuart J Chalk
BACKGROUND: A number of websites make available spectral data for download (typically as JCAMP-DX text files) and one (ChemSpider) that also allows users to contribute spectral files. As a result, searching and retrieving such spectral data can be time consuming, and difficult to reuse if the data is compressed in the JCAMP-DX file. What is needed is a single resource that allows submission of JCAMP-DX files, export of the raw data in multiple formats, searching based on multiple chemical identifiers, and is open in terms of license and access...
2016: Journal of Cheminformatics
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