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https://www.readbyqxmd.com/read/29161691/failure-to-thrive-in-the-context-of-carney-complex
#1
Amit Tirosh, Adi Auerbach, Belen Bonella, Phaedon D Zavras, Elena Belyavskaya, Charalampos Lyssikatos, Karen Meir, Ram Weiss, Hagit Daum, Maya B Lodish, David Gillis, Constantine A Stratakis
BACKGROUND/AIMS: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT). METHODS: A retrospective case series of pediatric patients with CNC presenting with FTT. RESULTS: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC...
November 21, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29161375/health-system-factors-affecting-implementation-of-integrated-management-of-childhood-illness-imci-qualitative-insights-from-a-south-african-province
#2
Himani Pandya, Wiedaad Slemming, Haroon Saloojee
The Integrated Management of Childhood Illness (IMCI) strategy has been adopted by 102 countries including South Africa, as the preferred primary health care (PHC) delivery strategy for sick children under 5 years. Despite substantial investment to support IMCI in South Africa, its delivery remains sub-optimal, with varied implementation in different settings. There is scarce research globally, and in the local context, examining the effects of health system characteristics on IMCI implementation. This study explored key determinants of IMCI delivery in a South African province, with a specific focus on health system building blocks using a health system dynamics framework...
November 17, 2017: Health Policy and Planning
https://www.readbyqxmd.com/read/29160003/two-new-viruses-mcv1-and-mcv2-which-infect-marinitoga-bacteria-isolated-from-deep-sea-hydrothermal-vents-functional-and-genomic-analysis
#3
C Mercier, J Lossouarn, C L Nesbø, T H A Haverkamp, A C Baudoux, M Jebbar, N Bienvenu, S Thiroux, S Dupont, C Geslin
Viruses represent a driving force in the evolution of microorganisms including those thriving in extreme environments. However, our knowledge of the viral diversity associated to microorganisms inhabiting the deep-sea hydrothermal vents remains limited. The phylum of Thermotogae, including thermophilic bacteria, is well represented in this environment. Only one virus was described in this phylum, MPV1 carried by Marinitoga piezophila. In this study, we report on the functional and genomic characterization of two new bacterioviruses that infect bacteria from the Marinitoga genus...
November 21, 2017: Environmental Microbiology
https://www.readbyqxmd.com/read/29159459/epg5-related-vici-syndrome-a-primary-defect-of-autophagic-regulation-with-an-emerging-phenotype-overlapping-with-mitochondrial-disorders
#4
Shanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, Mark J Cowley, Velimir Gayevskiy, Carolyn M Sue, Caitlin Edwards, Edward Edkins, Reimar Junckerstorff, C Kiraly-Borri, P Rowe, J Christodoulou
Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29157626/risk-association-of-congenital-anomalies-in-patients-with-ambiguous-genitalia-a-22-year-single-center-experience
#5
Jennifer M Heeley, Abby S Hollander, Paul F Austin, Diane F Merritt, Victoria G Wesevich, Ina E Amarillo
BACKGROUND: Ambiguous genitalia refers to a form of differences of sex development (DSD) wherein the appearance of the external genitalia is atypical. This rare condition presents challenges in decision-making and clinical management. Review of historical data may reveal areas for clinical research to improve care for patients with ambiguous genitalia. OBJECTIVE: This chart review was performed to identify patients with ambiguous genitalia, and to classify them as having 46,XX DSD, 46,XY DSD, or sex chromosome DSD...
November 17, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29155591/mechanics-of-protein-adaptation-to-high-temperatures
#6
Guillaume Stirnemann, Fabio Sterpone
Inspired by Somero's corresponding state principle that relates protein enhanced thermal stability with mechanical rigidity, we deployed state of the art computational techniques (based on atomistic steered molecular dynamics and Hamiltonian-replica exchange simulations) to study the in silico realization of mechanical and thermal unfolding of two homologous Csp proteins that have evolved to thrive in different thermal environments. By complementing recent single-molecule experiments, we unambiguously show that, for these homologues whose structures are very similar, the increased thermal resistance of the thermophilic variant is not associated with an increased mechanical stability...
November 20, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/29153483/crosstalks-between-translation-and-metabolism-in-cancer
#7
REVIEW
Stefano Biffo, Nicola Manfrini, Sara Ricciardi
Albeit cancer patients' heterogeneity, all tumor cells have alterations of both metabolism and translation. The simplest explanation for this common feature is that several oncogenes coordinate a translational and metabolic reprogramming that is necessary for tumor cells to thrive. Overall, at least three oncogenic pathways, namely c-Myc, RAS and PI3K-mTOR, are known to affect both translation and metabolism by stimulating glycolysis and protein synthesis. The crosstalk between metabolite production and the translational machinery is, instead, less understood...
November 15, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29152528/x-linked-lissencephaly-with-absent-corpus-callosum-and-abnormal-genitalia-an-evolving-multisystem-syndrome-with-severe-congenital-intestinal-diarrhea-disease
#8
David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, George McGillivray
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunction, hypothyroidism, and hypophosphatasia...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29151637/strategies-to-improve-saccharomyces-cerevisiae-technological-advancements-and-evolutionary-engineering
#9
REVIEW
Arun Kumar Dangi, Kashyap Kumar Dubey, Pratyoosh Shukla
Bakery industries are thriving to augment the diverse properties of Saccharomyces cerevisiae to increase its flavor, texture and nutritional parameters to attract the more consumers. The improved technologies adopted for quality improvement of baker's yeast are attracting the attention of industry and it is playing a pivotal role in redesigning the quality parameters. Modern yeast strain improvement tactics revolve around the use of several advanced technologies such as evolutionary engineering, systems biology, metabolic engineering, genome editing...
December 2017: Indian Journal of Microbiology
https://www.readbyqxmd.com/read/29150053/failure-to-thrive-case-definition-guidelines-for-data-collection-analysis-and-presentation-of-maternal-immunisation-safety-data
#10
Elizabeth Ross, Flor M Munoz, Bassey Edem, Cassandra Nan, Fyezah Jehan, Julie Quinn, Tamala Mallett Moore, Sanie Sesay, Hans Spiegel, Librada Fortuna, Sonali Kochhar, Jim Buttery
No abstract text is available yet for this article.
December 4, 2017: Vaccine
https://www.readbyqxmd.com/read/29149805/observational-cohort-study-safety-outcomes-in-children-using-proton-pump-inhibitors-or-histamine-2-receptor-antagonists
#11
Eline Houben, Saga Johansson, Péter Nagy, Fernie J A Penning-van Beest, Ernst J Kuipers, Ron M C Herings
OBJECTIVE: Acid suppression with histamine-2 receptor antagonists (H2RAs) or proton pump inhibitors (PPIs) is recommended for children with persistent gastroesophageal reflux disease symptoms. In this retrospective, observational postauthorization study, we aimed to assess and compare safety outcomes in pediatric first-time users of esomeprazole, other PPIs, or H2RAs. METHODS: Data on children (aged 0-18 years) first dispensed esomeprazole, other PPIs, or H2RAs between September 2008 and August 2011 were obtained from the Dutch PHARMO Database Network...
November 17, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/29148123/donohue-syndrome-a-review-of-literature-case-series-and-anesthetic-considerations
#12
REVIEW
Alana Kirkwood, Grant Stuart, Louise Harding
BACKGROUND: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. An accelerated fasting state results in muscle wasting, decreased subcutaneous fat, and an excess of thick skin. A reduced thoracic diameter is accentuated by increased abdominal distension, which impacts on respiratory reserve...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29147655/magnetic-resonance-colonography-may-predict-the-need-for-bowel-resection-in-colorectal-endometriosis
#13
Arnaldo Scardapane, Filomenamila Lorusso, Mariantonietta Francavilla, Stefano Bettocchi, Fabiana Divina Fascilla, Giuseppe Angelelli, Marco Scioscia
Purpose: To define if MRI findings in patients with deep pelvic endometriosis (DPE) may be predictive for the need of bowel resection. Material and Methods: A retrospective survey of 196 pelvic MRIs of women who received laparoscopic procedures for DPE was carried out. A pelvic MRI was performed in all patients: it consisted in T2w-TSE sequences in axial, sagittal, and coronal planes and T1w and THRIVE sequences in the axial plane; the exam was completed by MR-Colonography...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29145850/targeting-protein-quality-control-pathways-in-breast-cancer
#14
REVIEW
Sara Sannino, Jeffrey L Brodsky
The efficient production, folding, and secretion of proteins is critical for cancer cell survival. However, cancer cells thrive under stress conditions that damage proteins, so many cancer cells overexpress molecular chaperones that facilitate protein folding and target misfolded proteins for degradation via the ubiquitin-proteasome or autophagy pathway. Stress response pathway induction is also important for cancer cell survival. Indeed, validated targets for anti-cancer treatments include molecular chaperones, components of the unfolded protein response, the ubiquitin-proteasome system, and autophagy...
November 16, 2017: BMC Biology
https://www.readbyqxmd.com/read/29145728/understanding-how-emergency-medicine-physicians-survive-and-thrive-in-rural-practice-a-theoretical-model
#15
Ashra Kolhatkar, Andrea Keesey, Bob Bluman, Brenna Lynn, Tandi Wilkinson
INTRODUCTION: The challenges facing emergency medicine (EM) services in Canada reflect the limitations of the entire healthcare system. The emergency department (ED) is uniquely situated in the healthcare system such that shortcomings in hospital- and community-based services are often first revealed there. This is especially true in rural settings, where there are additional site-specific barriers to the provision of EM care. Existing studies look at the factors that influence rural EM physicians in isolation...
November 2017: Rural and Remote Health
https://www.readbyqxmd.com/read/29141924/antenatal-bartter-syndrome-presenting-with-vomiting-and-constipation-mimicking-subacute-intestinal-obstruction-in-a-20-day-old-neonate
#16
Ibtihal Siddiq Abdelgadir, Fawzia Elgharbawy, Khalil Mohamad Salameh, Baha Eldin Juma
Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios. She developed persistent non-bilious vomiting that was associated with constipation soon after birth. She presented with failure to thrive and features suggestive of intestinal obstruction. On the initial evaluation, she was noted to have hypokalaemic, hyponatraemic metabolic alkalosis...
November 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29141314/-a-novel-compound-heterozygous-mutation-in-abca3-gene-in-a-child-with-diffuse-parenchymal-lung-disease
#17
Y M Bao, X L Liu, X L Liu, J H Chen, Y J Zheng
Objective: To summarize the clinical characteristics of the diffuse parenchymal lung diseases in a child caused by a novel compound heterozygous ABCA3 mutation and explore the association between the phenotype and ABCA3 mutation. Method: The clinical material of a patient diagnosed with diffuse parenchymal lung disease with ABCA3 mutation in December 2016 in Shenzhen Children's Hospital was analyzed. The information about ABCA3 gene mutation updated before April, 2017 was searched and collected from the gene databases (including 1000Genomes, HGMD, EXAC) and the literatures (including Wanfang Chinese database and Pubmed)...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29140792/a-bayesian-hierarchical-model-for-identifying-significant-polygenic-effects-while-controlling-for-confounding-and-repeated-measures
#18
Christopher McMahan, James Baurley, William Bridges, Chase Joyner, Muhamad Fitra Kacamarga, Robert Lund, Carissa Pardamean, Bens Pardamean
Genomic studies of plants often seek to identify genetic factors associated with desirable traits. The process of evaluating genetic markers one by one (i.e. a marginal analysis) may not identify important polygenic and environmental effects. Further, confounding due to growing conditions/factors and genetic similarities among plant varieties may influence conclusions. When developing new plant varieties to optimize yield or thrive in future adverse conditions (e.g. flood, drought), scientists seek a complete understanding of how the factors influence desirable traits...
November 15, 2017: Statistical Applications in Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29135981/pioneer-cells-established-by-the-swi-prion-can-promote-dispersal-and-out-crossing-in-yeast
#19
Gregory A Newby, Susan Lindquist
To thrive in an ever-changing environment, microbes must widely distribute their progeny to colonize new territory. Simultaneously, they must evolve and adapt to the stresses of unpredictable surroundings. In both of these regards, diversity is key-if an entire population moved together or responded to the environment in the same way, it could easily go extinct. Here, we show that the epigenetic prion switch [SWI+] establishes a specialized subpopulation with a "pioneer" phenotypic program in Saccharomyces cerevisiae...
November 2017: PLoS Biology
https://www.readbyqxmd.com/read/29134024/hidden-in-the-urban-parks-of-new-york-city-themira-lohmanus-a-new-species-of-sepsidae-described-based-on-morphology-dna-sequences-mating-behavior-and-reproductive-isolation-sepsidae-diptera
#20
Yuchen Ang, Gowri Rajaratnam, Kathy Fy Su, Rudolf Meier
New species from well-studied taxa such as Sepsidae (Diptera) are rarely described from localities that have been extensively explored and one may think that New York City belongs to this category. Yet, a new species of Themira (Diptera: Sepsidae) was recently discovered which is currently only known to reside in two of New York City's largest urban parks. Finding a new species of Themira in these parks was all the more surprising because the genus was revised in 1998 and is not particularly species-rich (13 species)...
2017: ZooKeys
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