keyword
MENU ▼
Read by QxMD icon Read
search

global development delay

keyword
https://www.readbyqxmd.com/read/28346616/unilateral-amblyopia-affects-two-eyes-fellow-eye-deficits-in-amblyopia
#1
Kimberly Meier, Deborah Giaschi
Unilateral amblyopia is a visual disorder that arises after selective disruption of visual input to one eye during critical periods of development. In the clinic, amblyopia is understood as poor visual acuity in an eye that was deprived of pattern vision early in life. By its nature, however, amblyopia has an adverse effect on the development of a binocular visual system and the interactions between signals from two eyes. Visual functions aside from visual acuity are impacted, and many studies have indicated compromised sensitivity in the fellow eye even though it demonstrates normal visual acuity...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28343847/global-developmental-delay-and-intellectual-disability-associated-with-a-de-novo-top2b-mutation
#2
Ching-Wan Lam, Wai-Lan Yeung, Chun-Yiu Law
BACKGROUND: More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. METHODS: We report a 15yo girl with developmental delay, intellectual disability, hypotonia, microcephaly and autistic feature. She first presented at 6months old with primitive response to noise...
March 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28335910/management-strategies-for-cln2-disease
#3
REVIEW
Ruth E Williams, Heather R Adams, Martin Blohm, Jessica L Cohen-Pfeffer, Emily de Los Reyes, Jonas Denecke, Kristen Drago, Charlie Fairhurst, Margie Frazier, Norberto Guelbert, Szilárd Kiss, Annamaria Kofler, John A Lawson, Lenora Lehwald, Mary-Anne Leung, Svetlana Mikhaylova, Jonathan W Mink, Miriam Nickel, Renée Shediac, Katherine Sims, Nicola Specchio, Meral Topcu, Ina von Löbbecke, Andrea West, Boris Zernikow, Angela Schulz
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. No management guidelines exist and there is a paucity of published disease-specific evidence to inform clinical practice, which currently draws upon experience from the field of childhood neurodisability...
April 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28334956/prune-is-crucial-for-normal-brain-development-and-mutated-in-microcephaly-with-neurodevelopmental-impairment
#4
Massimo Zollo, Mustafa Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Marianeve Carotenuto, Reza Maroofian, Ahmed Al-Amri, Royana Singh, Iolanda Scognamiglio, Majid Mojarrad, Luca Musella, Angela Duilio, Angela Di Somma, Ender Karaca, Anna Rajab, Aisha Al-Khayat, Tribhuvan Mohan Mohapatra, Atieh Eslahi, Farah Ashrafzadeh, Lettie E Rawlins, Rajniti Prasad, Rashmi Gupta, Preeti Kumari, Mona Srivastava, Flora Cozzolino, Sunil Kumar Rai, Maria Monti, Gaurav V Harlalka, Michael A Simpson, Philip Rich, Fatema Al-Salmi, Michael A Patton, Barry A Chioza, Stephanie Efthymiou, Francesca Granata, Gabriella Di Rosa, Sarah Wiethoff, Eugenia Borgione, Carmela Scuderi, Kshitij Mankad, Michael G Hanna, Piero Pucci, Henry Houlden, James R Lupski, Andrew H Crosby, Emma L Baple
PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE...
February 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#5
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28326907/skin-sensitizers-in-cosmetics-and-beyond-potential-multiple-mechanisms-of-action-and-importance-of-t-cell-assays-for-in-vitro-screening
#6
Stanislav Vukmanović, Nakissa Sadrieh
Allergic contact dermatitis (ACD) is a delayed-type hypersensitivity (DTH) reaction induced by repeated contact with sensitizers. The ability of a chemical to act as a sensitizer has most frequently been tested in animals. As the use of animals for these purposes is gradually and globally being phased out, there is a need for reliable in vitro surrogate assays. Currently proposed in vitro assays are designed to test four key events of the adverse outcome pathway (AOP) involving covalent modification of self-proteins by sensitizers (haptenation) and presentation of new antigens (hapten/carrier complexes) to the immune system...
March 22, 2017: Critical Reviews in Toxicology
https://www.readbyqxmd.com/read/28322265/prevalence-of-early-initiation-of-breastfeeding-and-determinants-of-delayed-initiation-of-breastfeeding-secondary-analysis-of-the-who-global-survey
#7
Kenzo Takahashi, Togoobaatar Ganchimeg, Erika Ota, Joshua P Vogel, João Paulo Souza, Malinee Laopaiboon, Cynthia Pileggi Castro, Kapila Jayaratne, Eduardo Ortiz-Panozo, Pisake Lumbiganon, Rintaro Mori
Early initiation of breastfeeding (EIBF) within 1 hour of birth can decrease neonatal death. However, the prevalence of EIBF is approximately 50% in many developing countries, and data remains unavailable for some countries. We conducted a secondary analysis using the WHO Global Survey on Maternal and Perinatal Health to identify factors hampering EIBF. We described the coverage of EIBF among 373 health facilities for singleton neonates for whom breastfeeding was initiated after birth. Maternal and facility characteristics of EIBF were compared to those of breastfeeding >1 hour after birth, and multiple logistic regression analysis was performed...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28303138/importance-of-salmonella-typhi-responsive-cd8-t-cell-immunity-in-a-human-typhoid-fever-challenge-model
#8
Stephanie Fresnay, Monica A McArthur, Laurence S Magder, Thomas C Darton, Claire Jones, Claire S Waddington, Christoph J Blohmke, Brian Angus, Myron M Levine, Andrew J Pollard, Marcelo B Sztein
Typhoid fever, caused by the human-restricted organism Salmonella enterica serovar Typhi (S. Typhi), constitutes a major global health problem. The development of improved attenuated vaccines is pressing, but delayed by the lack of appropriate preclinical models. Herein, we report that high levels of S. Typhi-responsive CD8+ T cells at baseline significantly correlate with an increased risk of disease in humans challenged with a high dose (~10(4) CFU) wild-type S. Typhi. Typhoid fever development was associated with higher multifunctional S...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28296279/an-immunohistochemical-approach-to-identify-the-sex-of-young-marine-turtles
#9
Boris M Tezak, Kathleen Guthrie, Jeanette Wyneken
Marine turtles exhibit temperature-dependent sex determination (TSD). During critical periods of embryonic development, the nest's thermal environment directs whether an embryo will develop as a male or female. At warmer sand temperatures nests tend to produce female-biased sex ratios. The rapid increase of global temperature highlights the need for a clear assessment of its effects on sea turtle sex ratios. However, estimating hatchling sex ratios at rookeries remains imprecise due to the lack of sexual dimorphism in young marine turtles...
March 13, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28294957/regional-ventilation-redistribution-measured-by-electrical-impedance-tomography-during-spontaneous-breathing-trial-with-automatic-tube-compensation
#10
Yeong-Long Hsu, Ai-Jia Tien, Mei-Yun Chang, Hao-Tai Chang, Knut Moeller, Inez Frerichs, Zhanqi Zhao
Automatic tube compensation (ATC) was developed to overcome the flow resistance of endotracheal tube and decrease the imposed work of breathing. Although ATC is used as an evidence-based strategy to predict successful weaning from assisted ventilation, the changes in regional ventilation distribution induced by this technique are not known. We hypothesized that continuous positive airway pressure plus ATC (CPAP+100%ATC) could reactivate the respiratory muscles in patients with prolonged mechanical ventilation (PMV) more effectively than volume assist-control mandatory ventilation (ACMV)...
March 15, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28291720/congenital-cytomegalovirus-infection-in-pregnancy-and-the-neonate-consensus-recommendations-for-prevention-diagnosis-and-therapy
#11
REVIEW
William D Rawlinson, Suresh B Boppana, Karen B Fowler, David W Kimberlin, Tiziana Lazzarotto, Sophie Alain, Kate Daly, Sara Doutré, Laura Gibson, Michelle L Giles, Janelle Greenlee, Stuart T Hamilton, Gail J Harrison, Lisa Hui, Cheryl A Jones, Pamela Palasanthiran, Mark R Schleiss, Antonia W Shand, Wendy J van Zuylen
Congenital cytomegalovirus is the most frequent, yet under-recognised, infectious cause of newborn malformation in developed countries. Despite its clinical and public health importance, questions remain regarding the best diagnostic methods for identifying maternal and neonatal infection, and regarding optimal prevention and therapeutic strategies for infected mothers and neonates. The absence of guidelines impairs global efforts to decrease the effect of congenital cytomegalovirus. Data in the literature suggest that congenital cytomegalovirus infection remains a research priority, but data are yet to be translated into clinical practice...
March 10, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28291159/67cu-radiolabeling-of-a-multimeric-rgd-peptide-for-%C3%AE-v%C3%AE-3-integrin-targeted-radionuclide-therapy-stability-therapeutic-efficacy-and-safety-studies-in-mice
#12
Zhao-Hui Jin, Takako Furukawa, Tomoyuki Ohya, Mélissa Degardin, Aya Sugyo, Atsushi B Tsuji, Yasuhisa Fujibayashi, Ming-Rong Zhang, Tatsuya Higashi, Didier Boturyn, Pascal Dumy, Tsuneo Saga
OBJECTIVE: Copper-67 (Cu) is one of the most promising radionuclides for internal radiation therapy. Globally, several projects have recently been initiated for developing innovative approaches for the large-scale production of Cu. Encouraged by these, we performed Cu-radiolabeling of a tetrameric cyclic Arg-Gly-Asp (cRGD) peptide conjugate, cyclam-RAFT-c(-RGDfK-)4, which selectively targets αVβ3 integrin (αVβ3), the transmembrane receptor involved in tumor invasion, angiogenesis, and metastasis...
April 2017: Nuclear Medicine Communications
https://www.readbyqxmd.com/read/28282618/integrating-multiple-stressors-across-life-stages-and-latitudes-combined-and-delayed-effects-of-an-egg-heat-wave-and-larval-pesticide-exposure-in-a-damselfly
#13
Szymon Sniegula, Lizanne Janssens, Robby Stoks
To understand the effects of pollutants in a changing world we need multistressor studies that combine pollutants with other stressors associated with global change such as heat waves. We tested for the delayed and combined impact of a heat wave during the egg stage and subsequent sublethal exposure to the pesticide esfenvalerate during the larval stage on life history and physiology in the larval and adult stage of the damselfly Lestes sponsa. We studied this in a common garden experiment with replicated central- and high latitude populations to explore potential effects of local thermal adaptation and differences in life history shaping the multistressor responses...
March 1, 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28280335/nanoparticle-abraxane-possesses-impaired-proliferation-in-a549-cells-due-to-the-underexpression-of-glucosamine-6-phosphate-n-acetyltransferase-1-gnpnat1-gna1
#14
Minzhi Zhao, Haiyun Li, Yan Ma, He Gong, Shu Yang, Qiaojun Fang, Zhiyuan Hu
Abraxane (Abr), a US Food and Drug Administration-approved albumin-bound nanoparticle applied for the treatment of non-small-cell lung cancer, has been reported to be more effective than paclitaxel (PTX). To further understand the molecular mechanisms that produce this superior drug efficacy of Abr, a quantitative proteomic approach has been applied to investigate the global protein expression profiles of lung cancer cell A549 treated with Abr and PTX. Only one protein, namely, glucosamine 6-phosphate N-acetyltransferase 1 (GNA1), showed significant differential expression (P<0...
2017: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/28276501/major-shifts-at-the-range-edge-of-marine-forests-the-combined-effects-of-climate-changes-and-limited-dispersal
#15
J Assis, E Berecibar, B Claro, F Alberto, D Reed, P Raimondi, E A Serrão
Global climate change is likely to constrain low latitude range edges across many taxa and habitats. Such is the case for NE Atlantic marine macroalgal forests, important ecosystems whose main structuring species is the annual kelp Saccorhiza polyschides. We coupled ecological niche modelling with simulations of potential dispersal and delayed development stages to infer the major forces shaping range edges and to predict their dynamics. Models indicated that the southern limit is set by high winter temperatures above the physiological tolerance of overwintering microscopic stages and reduced upwelling during recruitment...
March 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28270692/imetelstat-a-telomerase-inhibitor-differentially-affects-normal-and-malignant-megakaryopoiesis
#16
G Mosoyan, T Kraus, F Ye, K Eng, J D Crispino, R Hoffman, C Iancu-Rubin
Imetelstat (GRN163L) is a specific telomerase inhibitor which has demonstrated clinical activity in patients with myeloproliferative neoplasms (MPN) and in patients with solid tumors. The antitumor effects were associated with the development of thrombocytopenia, one of the common side effects observed in patients treated with imetelstat. The events underlying these adverse effects are not apparent. In this report we investigated the potential mechanisms that account for imetelstat's beneficial effects in MPN patients and the manner by which imetelstat treatment leads to a reduction in platelet numbers...
March 8, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28256382/agents-of-change-the-role-of-healthcare-workers-in-the-prevention-of-nosocomial-and-occupational-tuberculosis
#17
Ruvandhi R Nathavitharana, Patricia Bond, Angela Dramowski, Koot Kotze, Philip Lederer, Ingrid Oxley, Jurgens A Peters, Chanel Rossouw, Helene-Mari van der Westhuizen, Bart Willems, Tiong Xun Ting, Arne von Delft, Dalene von Delft, Raquel Duarte, Edward Nardell, Alimuddin Zumla
Healthcare workers (HCWs) play a central role in global tuberculosis (TB) elimination efforts but their contributions are undermined by occupational TB. HCWs have higher rates of latent and active TB than the general population due to persistent occupational TB exposure, particularly in settings where there is a high prevalence of undiagnosed TB in healthcare facilities and TB infection control (TB-IC) programmes are absent or poorly implemented. Occupational health programmes in high TB burden settings are often weak or non-existent and thus data that record the extent of the increased risk of occupational TB globally are scarce...
February 27, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28255252/hepatitis-c-treatment-where-are-we-now
#18
REVIEW
Nicholas J Burstow, Zameer Mohamed, Asmaa I Gomaa, Mark W Sonderup, Nicola A Cook, Imam Waked, C Wendy Spearman, Simon D Taylor-Robinson
Chronic hepatitis C infection affects millions of people worldwide and confers significant morbidity and mortality. Effective treatment is needed to prevent disease progression and associated complications. Previous treatment options were limited to interferon and ribavirin (RBV) regimens, which gave low cure rates and were associated with unpleasant side effects. The era of direct-acting antiviral (DAA) therapies began with the development of first-generation NS3/4A protease inhibitors in 2011. They vastly improved outcomes for patients, particularly those with genotype 1 infection, the most prevalent genotype globally...
2017: International Journal of General Medicine
https://www.readbyqxmd.com/read/28250997/oral-health-characteristics-and-dental-rehabilitation-of-children-with-global-developmental-delay
#19
Saurabh Kumar, Deepika Pai, Runki Saran
Global developmental delay (GDD) is a chronic neurological disturbance which includes defects in one or more developmental domains. The developmental domain can be motor, cognitive, daily activities, speech or language, and social or personal development. The etiology for GDD can be prenatal, perinatal, or postnatal. It can be diagnosed early in childhood as the delay or absence of one or more developmental milestones. Hence the role of pedodontist and pediatricians becomes more crucial in identifying this condition...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28250848/tissue-specific-methylation-profile-in-obese-patients-with-type-2-diabetes-before-and-after-roux-en-y-gastric-bypass
#20
REVIEW
Priscila Sala, Raquel Susana Matos de Miranda Torrinhas, Danielle Cristina Fonseca, Graziela Rosa Ravacci, Dan Linetzky Waitzberg, Daniel Giannella-Neto
Eating habits, lifestyles, and exposure to specific environmental factors can greatly impact the risk of developing type 2 diabetes (T2D), influence the genome epigenetically, and affect the expression of genes, including genes related to glycemic control, at any stage of life. The epigenetic mechanism underlying obesity and T2D pathogenesis remains poorly understood. Conventional strategies for the treatment of obesity and its comorbidities often have poor long-term adherence, and pharmacological interventions are limited...
2017: Diabetology & Metabolic Syndrome
keyword
keyword
85533
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"