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https://www.readbyqxmd.com/read/29150902/wieacker-wolff-syndrome-with-associated-cleft-palate-in-a-female-case
#1
Natalie D Godfrey, Samandar Dowlatshahi, Madelena M Martin, Douglas M Rothkopf
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150707/a-guard-killer-phage-cocktail-effectively-lyses-the-host-and-inhibits-the-development-of-phage-resistant-strains-of-escherichia-coli
#2
Ling Yu, Shuang Wang, Zhimin Guo, Hongtao Liu, Diangang Sun, Guangmou Yan, Dongliang Hu, Chongtao Du, Xin Feng, Wenyu Han, Jingmin Gu, Changjiang Sun, Liancheng Lei
In recent years, after the emergence of a large number of multidrug-resistant bacteria, phages and phage-associated products for the prevention and control of bacterial disease have revealed prominent advantages as compared with antibiotics. However, bacteria are susceptible to becoming phage-resistant, thus severely limiting the application of phage therapy. In this study, Escherichia coli cells were incubated with lytic bacteriophages to obtain mutants that were resistant to the lytic phages. Then, bacteriophages against the phage-resistant variants were isolated and subsequently mixed with the original lytic phage to prepare a novel phage cocktail for bactericidal use...
November 17, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29150463/month-of-birth-and-risk-of-autism-spectrum-disorder-a-retrospective-cohort-of-male-children-born-in-israel
#3
Hila Shalev, Ido Solt, Gabriel Chodick
BACKGROUND: Increased incidence and prevalence of autism spectrum disorder (ASD) over the last two decades have prompted considerable efforts to investigate its aetiological factors. We examined an association between month of birth and ASD incidence. METHODS: In a retrospective cohort of male children born from January 1999 to December 2008 in a large health organisation in Israel (Maccabi Healthcare Services), ASD was followed from birth through December 2015...
November 16, 2017: BMJ Open
https://www.readbyqxmd.com/read/29150315/surgical-options-for-osteoporotic-vertebral-compression-fractures-complicated-with-spinal-deformity-and-neurologic-deficit
#4
Kalliopi Alpantaki, Michael Dohm, Panagiotis Korovessis, Alexander G Hadjipavlou
INTRODUCTION: This paper describes surgical options for Osteoporotic vertebral compression fracture (OVCF) with acute flexible or chronic rigid kyphosis, and pseudarthrosis complicated with pain and neurologic deficit. METHODS: This study has two components. a) A prospective clinical study of surgical treatment of 31 patients (age: 69±11 years) with either acute flexible or progressive pseudarthrotic kyphosis manifested with severe pain or neurological deficit between 2010 and 2014...
November 12, 2017: Injury
https://www.readbyqxmd.com/read/29150184/-glutamate-dehydrogenase-its-diagnostic-value-in-clostridioides-difficile-diarrhea
#5
Daniela Vaustat, Raquel Rollet
Clostridioides difficile is the main etiological agent of diarrhea associated with health care, it produces toxins and glutamate dehydrogenase (GDH), an enzyme that is highly conserved in this species. Rapid diagnosis and effective treatment produce prompt improvement of the patient and subsequent control of the microorganism spread. There are several techniques whose results are interpreted in the context of algorithms. However, the optimal diagnostic method is yet unknown. The performance of GDH as a screening test for the diagnosis of C...
November 14, 2017: Revista Argentina de Microbiología
https://www.readbyqxmd.com/read/29150153/-dermatologic-surgery-hemophilia-and-von-willebrand-disease
#6
M Say, N Dupin, N Stieltjes, M-F Avril, S Aractingi, J Chanal
BACKGROUND: Von Willebrand disease (VWD) and hemophilia A and B are the most common types of hereditary coagulation-factor deficiencies. The frequency and type of complications of skin surgery in these patients are unknown. The increasing incidence of skin cancer prompted us to reflect upon this issue. While the incidence of skin cancer is increasing, the complications of skin surgery or ablative laser treatment remain unknown in this population. AIM: The aim of this study was to determine the frequency of bleeding complications during and after skin surgery in patients with a hereditary coagulation-factor deficiency (hemophilia or VWD)...
November 14, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29149974/liver-transplantation-with-old-grafts-a-ten-year-experience
#7
S Roullet, M Defaye, A Quinart, J-P Adam, L Chiche, C Laurent, M Neau-Cransac
BACKGROUND: The persistent scarcity of donors has prompted liver transplantation teams to find solutions for increasing graft availability. We report our experience of liver transplantations performed with grafts from older donors, specifically over 70 and 80 years old. PATIENTS AND METHODS: We analyzed our prospectively maintained single-center database from January 1, 2005, to December 31, 2014, with 380 liver transplantations performed in 354 patients. Six groups were composed according to donor age: <40 (n = 84), 40 to 49 (n = 67), from 50 to 59 (n = 62), from 60 to 69 (n = 76), from 70 to 79 (n = 64), and ≥80 years (n = 27)...
November 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/29149835/forkhead-transcription-factors-formulating-a-foxo-target-for-cognitive-loss
#8
Kenneth Maiese
BACKGROUND: With almost 47 million individuals worldwide suffering from some aspect of dementia, it is clear that cognitive loss impacts a significant proportion of the global population. Unfortunately, definitive treatments to resolve or prevent the onset of cognitive loss are limited. In most cases such care is currently non-existent prompting the need for novel treatment strategies. METHODS: Mammalian forkhead transcription factors of the O class (FoxO) are one such avenue of investigation that offer an exciting potential to bring new treatments forward for disorders that involve cognitive loss...
November 15, 2017: Current Neurovascular Research
https://www.readbyqxmd.com/read/29149449/facing-more-hoops
#9
Joey Berlin
Opioid abuse has killed tens of thousands of Americans in recent years, prompting health plans to adjust their prescription drug policies, including changing formularies and prior-authorization processes.
November 1, 2017: Texas Medicine
https://www.readbyqxmd.com/read/29149358/clinically-directed-neuroimaging-of-ophthalmoplegia
#10
REVIEW
Lucia Danieli, Margherita Montali, Luca Remonda, Hanspeter E Killer, Cesare Colosimo, Alessandro Cianfoni
PURPOSE: Ophthalmoplegia (OP) can have numerous etiologies and different clinical presentations. Most causes of OP can be narrowed down to specific anatomical locations based on clinical information. The aim of this study was to outline the different categories of diseases encountered in patients with OP, based on the location along the ocular motor pathways, and the most appropriate imaging modality for the given scenarios. METHODS: Representative neuroimaging examples of pathological processes causing OP are displayed, sequenced by anatomical location and disease category...
November 17, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29149194/understanding-linkage-to-care-with-hiv-self-test-approach-in-lusaka-zambia-a-mixed-method-approach
#11
Jenala Chipungu, Samuel Bosomprah, Arianna Zanolini, Harsha Thimurthy, Roma Chilengi, Anjali Sharma, Charles B Holmes
INTRODUCTION: HIV self-testing (HIVST) is a novel approach designed to assist in achieving the goal of at least 90% of the population that learn their HIV status. A self-test user with a positive test is required to visit a clinic to link into HIV care, yet little is known about patient preferences for linkage strategies. We examined the intention to link to care amongst potential HIVST users and the suitability of three linkage to care strategies in Lusaka Province, Zambia. METHODS: We conducted a representative cross sectional survey of 1,617 individuals aged 16-49 years old in Lusaka Province...
2017: PloS One
https://www.readbyqxmd.com/read/29148977/the-role-of-micrornas-in-chronic-respiratory-disease-recent-insights
#12
Lindsay R Stolzenburg, Ann Harris
Chronic respiratory diseases encompass a group of diverse conditions affecting the airways, which all impair lung function over time. They include cystic fibrosis, idiopathic pulmonary fibrosis, chronic obstructive pulmonary disease, and asthma, which together affect hundreds of millions of people worldwide. MicroRNAs (miRNAs), a class of small non-coding RNAs involved in post-transcriptional gene repression, are now recognized as major regulators in the development and progression of chronic lung disease. Alterations in miRNA abundance occur in lung tissue, inflammatory cells, and freely circulating in blood and are thought to function both as drivers and modifiers of disease...
November 27, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/29148817/specific-recognition-of-g-quadruplexes-over-duplex-dna-by-a-macromolecular-nir-two-photon-fluorescent-probe
#13
Marco Deiana, Bastien Mettra, Lara Martinez-Fernandez, Leszek Mateusz Mazur, Krzysztof Pawlik, Chantal Andraud, Marek Samoc, Roberto Improta, Cyrille Monnereau, Katarzyna Matczyszyn
The implication of guanine-rich DNA sequences in biologically important roles such as telomerase dysfunction and the regulation of gene expression has prompted the search for structure-specific G-quadruplex agents for targeted diagnostic and therapeutic applications. To date, the number of two-photon absorbing fluorogenic dyes with intrinsically large two-photon absorption (TPA) cross-section (σ2) and quantum yield (φf), capable of specific detection of G-motifs over duplex DNAs is still limited. Herein, we report on a NIR two-photon poly(cationic) anthracene-based macromolecule able to selectively target G-quadruplexes (G4s) over genomic double-stranded DNA...
November 17, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/29148774/the-atmospheric-oxidation-of-furan-and-methyl-substituted-furans-initiated-by-hydroxyl-radicals
#14
Yi Yuan, Xiaocan Zhao, Sainan Wang, Liming Wang
Atmospheric oxidation mechanism of furan and methyl furans (MFs) initiated by OH radicals is studied using high-level quantum chemistry and kinetic calculations. The reaction starts mainly with OH addition to C2/C5-position, forming highly chemically activated adduct radical R2*/R5*, which would either be stabilized by collision or promptly isomerize to R2B*/R5B* by breaking the C2-O/C5-O bond and then isomerize to other conformers of R2B/R5B by internal rotations. Under the atmospheric conditions, the ring-retaining radical R2/R5 would recombine with O2 and be converted to a 5-hydroxy-2-furanone compound and a compound containing epoxide, ester, and carbonyl functional groups, while the ring-opening radicals R2B/R5B would react with O2 and form unsaturated 1,4-dicarbonyl compounds...
November 17, 2017: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/29148541/integrated-genomic-analysis-identifies-deregulated-jak-stat-myc-biosynthesis-axis-in-aggressive-nk-cell-leukemia
#15
Liang Huang, Dan Liu, Na Wang, Shaoping Ling, Yuting Tang, Jun Wu, Lingtong Hao, Hui Luo, Xuelian Hu, Lingshuang Sheng, Lijun Zhu, Di Wang, Yi Luo, Zhen Shang, Min Xiao, Xia Mao, Kuangguo Zhou, Lihua Cao, Lili Dong, Xinchang Zheng, Pinpin Sui, Jianlin He, Shanlan Mo, Jin Yan, Qilin Ao, Lugui Qiu, Hongsheng Zhou, Qifa Liu, Hongyu Zhang, Jianyong Li, Jie Jin, Li Fu, Weili Zhao, Jieping Chen, Xin Du, Guoliang Qing, Hudan Liu, Xin Liu, Gang Huang, Ding Ma, Jianfeng Zhou, Qian-Fei Wang
Aggressive NK-cell leukemia (ANKL) is a rare form of NK cell neoplasm that is more prevalent among people from Asia and Central and South America. Patients usually die within days to months, even after receiving prompt therapeutic management. Here we performed the first comprehensive study of ANKL by integrating whole genome, transcriptome and targeted sequencing, cytokine array as well as functional assays. Mutations in the JAK-STAT pathway were identified in 48% (14/29) of ANKL patients, while the extracellular STAT3 stimulator IL10 was elevated by an average of 56-fold (P < 0...
November 17, 2017: Cell Research
https://www.readbyqxmd.com/read/29148525/differences-in-photoreceptor-recovery-among-patients-and-between-different-parts-of-the-posterior-pole-in-vogt-koyanagi-harada-disease
#16
M Zhou, R P Gu, Z Sun, C H Jiang, Q Chang, G Z Xu
PurposeTo investigate the recovery of photoreceptors following the treatment in Vogt-Koyanagi-Harada (VKH) disease.Patients and methodsThis was a retrospective study. We enrolled 28 patients with VKH (56 eyes). The clinical and optical coherence tomography (OCT) findings were recorded for 12 months after treatment. The patterns of photoreceptor recovery on OCT were defined: pattern F group=Foveal photoreceptor recovery visible first; pattern E group=Extrafoveal photoreceptor recovery visible first; and pattern S group=Simultaneous foveal and extrafoveal photoreceptor recovery...
November 17, 2017: Eye
https://www.readbyqxmd.com/read/29148378/outbreak-of-yellow-fever-among-nonhuman-primates-espirito-santo-brazil-2017
#17
Natália Coelho Couto de Azevedo Fernandes, Mariana Sequetin Cunha, Juliana Mariotti Guerra, Rodrigo Albergaria Réssio, Cinthya Dos Santos Cirqueira, Silvia D'Andretta Iglezias, Júlia de Carvalho, Emerson L L Araujo, José Luiz Catão-Dias, Josué Díaz-Delgado
In January 2017, a yellow fever outbreak occurred in Espirito Santo, Brazil, where human immunization coverage is low. Histologic, immunohistologic, and PCR examinations were performed for 22 deceased nonhuman New World primates; typical yellow fever features were found in 21. Diagnosis in nonhuman primates prompted early public health response.
December 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29148353/uses-of-population-health-rankings-in-local-policy-contexts-a-multisite-case-study
#18
Jonathan Purtle, Rachel Peters, Jennifer Kolker, Ana V Diez Roux
Population health rankings are a common strategy to spur evidence-informed health policy making, but little is known about their uses or impacts. The study aims were to (1) understand how and why the County Health Rankings (CH-Rankings) are used in local policy contexts, (2) identify factors that influence CH-Rankings utilization, and (3) explore potentially negative impacts of the CH-Rankings. Forty-four interviews were conducted with health organization officials and public policy makers in 15 purposively selected counties...
August 1, 2017: Medical Care Research and Review: MCRR
https://www.readbyqxmd.com/read/29148346/increasing-the-use-of-comparative-quality-information-in-maternity-care-results-from-a-randomized-controlled-trial
#19
Maureen Maurer, Kristin L Carman, Manshu Yang, Kirsten Firminger, Judith Hibbard
This randomized controlled trial tested an intervention to increase uptake of hospital-level maternity care quality reports among 245 pregnant women in North Carolina (123 treatment; 122 control). The intervention included three enhancements to the quality report offered to the control: (a) biweekly text messages or e-mails directing women to the website, (b) videos and materials describing the relevance of quality measures to pregnant women's interests, and (c) tools to support discussions with clinicians...
May 1, 2017: Medical Care Research and Review: MCRR
https://www.readbyqxmd.com/read/29148292/cholestatic-liver-injury-as-a-side-effect-of-dabigatran-and-the-use-of-coagulation-tests-in-dabigatran-intoxication-and-after-reversal-by-idarucizumab-in-bleeding-and-sepsis
#20
Willemijn J Comuth, Anne-Mette Haase, Linda Ø Henriksen, Jerzy Malczynski, Daan van de Kerkhof, Anna-Marie B Münster
Idarucizumab, an antidote specific for dabigatran, became available recently. Dabigatran is not associated with increased risk of hepatotoxicity in comparison with warfarin, but it is seen as a rare side-effect. Cases of cholestatic liver injury due to dabigatran have not been reported previously. We present a case of severe gastro-intestinal bleeding with underlying dabigatran intoxication in a patient with renal failure and the effect of reversal of dabigatran using idaruzicumab on coagulation assays. International normalized ratio (INR) and activated partial thromboplastin time (APTT) results were elevated in a setting of sepsis, possibly due to liver failure...
November 17, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
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