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Gordon syndrome

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https://www.readbyqxmd.com/read/29159987/med13l-loss-of-function-variants-in-two-patients-with-syndromic-pierre-robin-sequence
#1
Christopher T Gordon, Maya Chopra, Myriam Oufadem, Olivier Alibeu, Marc Bras, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschké, Véronique Abadie, Stanislas Lyonnet, Jeanne Amiel
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like (MED13L) in one patient prompted the investigation of copy number variants in MED13L in the other, leading to the identification of an intragenic deletion...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29146906/qtl-mapping-and-molecular-characterization-of-the-classical-d-locus-controlling-seed-and-flower-color-in-linum-usitatissimum-flax
#2
Gurudatt Pavagada Sudarshan, Manoj Kulkarni, Leonid Akhov, Paula Ashe, Hamid Shaterian, Sylvie Cloutier, Gordon Rowland, Yangdou Wei, Gopalan Selvaraj
The flowers of flax (linseed) are blue-hued, ephemeral and self-pollinating, and the seeds are typically brown. A century-old interest in natural yellow seed variants and a historical model point to recessive alleles in B1, D and G loci being responsible, but the functional aspects had remained unknown. Here, we characterized the "D" locus by quantitative trait loci (QTL) mapping and identified a FLAVONOID 3'5' HYDROXYLASE (F3'5'H) gene therein. It does not belong to the F3'5'H clade, but resembles biochemically characterized F3'Hs (flavonoid 3' hydroxylase) but without F3'H activity...
November 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29138899/correction-to-potentially-modifiable-factors-contributing-to-outcome-from-acute-respiratory-distress-syndrome-the-lung-safe-study
#3
John G Laffey, Giacomo Bellani, Tài Pham, Eddy Fan, Fabiana Madotto, Ednan K Bajwa, Laurent Brochard, Kevin Clarkson, Andres Esteban, Luciano Gattinoni, Frank van Haren, Leo M Heunks, Kiyoyasu Kurahashi, Jon Henrik Laake, Anders Larsson, Daniel F McAuley, Lia McNamee, Nicolas Nin, Haibo Qiu, Marco Ranieri, Gordon D Rubenfeld, B Taylor Thompson, Hermann Wrigge, Arthur S Slutsky, Antonio Pesenti
Correction to: Intensive Care Med (2016) 42:1865-1876 DOI 10.1007/s00134-016-4571-5.
November 14, 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/29136622/serum-transaminase-concentrations-and-the-presence-of-irritable-bowel-syndrome-are-associated-with-serum-25-hydroxy-vitamin-d-concentrations-in-adolescent-girls-who-are-overweight-and-obese
#4
Sayyed Saeid Khayyatzadeh, Hassanali Vatanparast, Amir Avan, Mohammad Bagherniya, Afsane Bahrami, Mohammad Ali Kiani, Hamidreza Bahrami-Taghanaki, Gordon A Ferns, Majid Ghayour-Mobarhan
BACKGROUND/AIMS: Vitamin D deficiency has become endemic globally and its etiology is complex. Few studies have investigated the determinants of serum 25-hydroxy vitamin D (25-OH D). The aim of this study was to investigate the association between lifestyle patterns, liver functional tests (LFTs), and the presence of irritable bowel syndrome (IBS) with serum 25-OH D in apparently healthy girls. METHODS: This cross-sectional study was undertaken in 965 adolescent girls aged 12-18 years...
November 14, 2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/29136007/perinatal-mortality-associated-with-induction-of-labour-versus-expectant-management-in-nulliparous-women-aged-35-years-or-over-an-english-national-cohort-study
#5
Hannah E Knight, David A Cromwell, Ipek Gurol-Urganci, Katie Harron, Jan H van der Meulen, Gordon C S Smith
BACKGROUND: A recent randomised controlled trial (RCT) demonstrated that induction of labour at 39 weeks of gestational age has no short-term adverse effect on the mother or infant among nulliparous women aged ≥35 years. However, the trial was underpowered to address the effect of routine induction of labour on the risk of perinatal death. We aimed to determine the association between induction of labour at ≥39 weeks and the risk of perinatal mortality among nulliparous women aged ≥35 years...
November 2017: PLoS Medicine
https://www.readbyqxmd.com/read/29131833/mek-inhibitors-enhance-therapeutic-response-towards-atra-in-nf1-associated-malignant-peripheral-nerve-sheath-tumors-mpnst-in-vitro
#6
Susan Fischer-Huchzermeyer, Anna Dombrowski, Gordon Wilke, Verena Stahn, Anna Streubel, Victor Felix Mautner, Anja Harder
OBJECTIVE: Neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome characterized by an increased risk of malignant peripheral nerve sheath tumors (MPNST). Chemotherapy of MPNST is still insufficient. In this study, we investigated whether human tumor Schwann cells derived from NF1 associated MPNST respond to all-trans retinoic acid (ATRA). We analyzed effects of ATRA and MEK inhibitor (MEKi) combination therapy. METHODS: MPNST cell lines S462, T265, NSF1 were treated with ATRA and MEKi U0126 and PD0325901...
2017: PloS One
https://www.readbyqxmd.com/read/29116546/sir-gordon-morgan-holmes-1876-1965-one-of-the-founders-of-modern-neurology
#7
Jarosław Jerzy Sak, Andrzej Grzybowski, Jacek Baj
Sir Gordon Morgan Holmes (1876-1965) was one of the most important founders of modern neurology and a great teacher and scientist. He was the first scientist to challenge the theory of the unitary function of the cerebellum and described cerebellar disorders. Holmes together with Thomas Grainger Stewart (1877-1957) described 40 cases of the rebound phenomenon in cerebellar disease (Stewart-Holmes maneuver or Stewart-Holmes test). He also described the symptoms of inherited neurodegenerative spinocerebellar ataxia involving the olivary nucleus (Gordon-Holmes syndrome)...
November 7, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29111106/2017-comprehensive-update-of-the-canadian-cardiovascular-society-guidelines-for-the-management-of-heart-failure
#8
Justin A Ezekowitz, Eileen O'Meara, Michael A McDonald, Howard Abrams, Michael Chan, Anique Ducharme, Nadia Giannetti, Adam Grzeslo, Peter G Hamilton, George A Heckman, Jonathan G Howlett, Sheri L Koshman, Serge Lepage, Robert S McKelvie, Gordon W Moe, Miroslaw Rajda, Elizabeth Swiggum, Sean A Virani, Shelley Zieroth, Abdul Al-Hesayen, Alain Cohen-Solal, Michel D'Astous, Sabe De, Estrellita Estrella-Holder, Stephen Fremes, Lee Green, Haissam Haddad, Karen Harkness, Adrian F Hernandez, Simon Kouz, Marie-Hélène LeBlanc, Frederick A Masoudi, Heather J Ross, Andre Roussin, Bruce Sussex
Since the inception of the Canadian Cardiovascular Society heart failure (HF) guidelines in 2006, much has changed in the care for patients with HF. Over the past decade, the HF Guidelines Committee has published regular updates. However, because of the major changes that have occurred, the Guidelines Committee believes that a comprehensive reassessment of the HF management recommendations is presently needed, with a view to producing a full and complete set of updated guidelines. The primary and secondary Canadian Cardiovascular Society HF panel members as well as external experts have reviewed clinically relevant literature to provide guidance for the practicing clinician...
November 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29068592/the-effects-of-crocin-on-the-symptoms-of-depression-in-subjects-with-metabolic-syndrome
#9
Irandokht Nikbakht Jam, Amir Hossein Sahebkar, Saeid Eslami, Naghmeh Mokhber, Mina Nosrati, Mohammad Khademi, Mojtaba Foroutan-Tanha, Majid Ghayour-Mobarhan, Farzin Hadizadeh, Gordon Ferns, Masoumeh Abbasi
BACKGROUND: Studies have suggested that metabolic syndrome (MetS) is associated with increased depressive symptoms, and reducing depression in subjects with MetS is important. Crocin, an active component of saffron, has useful properties for subjects with MetS, including antidepressant properties. OBJECTIVES: The aim of the study was to assess the effect of a preparation of crocin on the symptoms of depression in subjects with MetS, and the relationship between changes in those symptoms and the serum pro-oxidant/anti-oxidant balance (PAB)...
September 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29066355/response-to-correction-of-refractive-errors-and-hypoaccommodation-in-children-with-congenital-zika-syndrome
#10
Liana O Ventura, Linda Lawrence, Camila V Ventura, Gordon N Dutton, Polyana Marinho, Priscila F Ferro, Adriana L Gois, Natalia C Dias, Larissa Ventura, Cynthia A Moore, Lea Hyvärinen
PURPOSE: To describe the immediate response to correction of refractive errors and hypoaccommodation in children with congenital Zika syndrome (CZS). METHODS: Children born between May and December 2015 with a confirmed diagnosis of CZS and enrolled in a multidisciplinary early intervention program were included in this study. All children received a comprehensive ophthalmic examination, including dynamic retinoscopy and cycloplegic refraction. Children were prescribed their full correction if they met the criteria for refractive error, strabismus, accommodative dysfunction, and/or low vision...
October 21, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29059635/phase-ii-randomised-discontinuation-trial-of-cabozantinib-in-patients-with-advanced-solid-tumours
#11
Patrick Schöffski, Michael Gordon, David C Smith, Razelle Kurzrock, Adil Daud, Nicholas J Vogelzang, Yihua Lee, Christian Scheffold, Geoffrey I Shapiro
BACKGROUND: Cabozantinib is an inhibitor of tyrosine kinases, including MET, vascular endothelial growth factor receptor, AXL and RET. This multi-cohort phase II randomised discontinuation trial explored anticancer activity of cabozantinib in nine tumour types. PATIENTS AND METHODS: Cabozantinib was administered (100 mg, once daily) to patients with advanced, recurrent or metastatic cancers. Those with stable disease at week 12 were randomised 1:1 to cabozantinib or placebo...
October 20, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29043837/lung-recruitment-maneuvers-for-adult-patients-with-acute-respiratory-distress-syndrome-a-systematic-review-and-meta-analysis
#12
Ewan Goligher, Carol Hodgson, Neill Kj Adhikari, Maureen O Meade, Hannah Wunsch, Elizabeth Uleryk, Ognjen Gajic, Marcelo Amato, Niall D Ferguson, Gordon D Rubenfeld, Eddy Fan
RATIONALE: In patients with acute respiratory distress syndrome (ARDS), lung recruitment maneuvers (LRMs) may prevent ventilator-induced lung injury and improve survival. OBJECTIVES: To summarize the current evidence in support of the use of LRMs in adult patients with ARDS. METHODS: We conducted a systematic review and meta-analysis of randomized trials comparing mechanical ventilation strategies with and without LRMs. Eligible trials were identified from previously published systematic reviews and an updated literature search...
October 18, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29043832/high-frequency-oscillation-for-adult-patients-with-acute-respiratory-distress-syndrome-a-systematic-review-and-meta-analysis
#13
Ewan Goligher, Laveena Munshi, Neill Kj Adhikari, Maureen O Meade, Carol Hodgson, Hannah Wunsch, Elizabeth Uleryk, Ognjen Gajic, Marcelo Amato, Niall D Ferguson, Gordon D Rubenfeld, Eddy Fan
RATIONALE: By minimizing tidal lung strain and maintaining alveolar recruitment, high frequency oscillatory ventilation (HFOV) may protect against ventilator-induced lung injury. OBJECTIVES: To summarize the current evidence in support of the use of HFOV in adult patients with ARDS. METHODS: We conducted a systematic review and meta-analysis of randomized trials comparing mortality rates with the use of HFOV vs. conventional mechanical ventilation for adult patients with acute respiratory distress syndrome...
October 18, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29037528/driving-pressure-and-hospital-mortality-in-patients-without-ards-a-cohort-study
#14
Marcello F S Schmidt, Andre C K B Amaral, Eddy Fan, Gordon D Rubenfeld
BACKGROUND: Driving pressure (ΔP) is associated with mortality in patients with ARDS and with pulmonary complications in patients undergoing general anesthesia. Whether ΔP is associated with outcomes of patients without ARDS who undergo ventilation in the ICU is unknown. Our objective was to determine the independent association between ΔP and outcomes in mechanically ventilated patients without ARDS on day 1 of mechanical ventilation. METHODS: This was a retrospective analysis of a cohort of 622 mechanically ventilated adult patients without ARDS on day 1 of mechanical ventilation from five ICUs in a tertiary center in the United States...
October 14, 2017: Chest
https://www.readbyqxmd.com/read/29029393/intermittent-treatment-with-farnesyltransferase-inhibitor-and-sulforaphane-improves-cellular-homeostasis-in-hutchinson-gilford-progeria-fibroblasts
#15
Diana Gabriel, Dinah Dorith Shafry, Leslie B Gordon, Karima Djabali
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic condition associated with mutations in the LMNA gene. This disease recapitulates some aspects of normal aging, such as hair loss, thin skin, joint stiffness, and atherosclerosis. The latter leads to heart attack or stroke that causes death at an average age of 14.6 years in children with HGPS. The typical LMNA mutation results in the production of a truncated prelamin A protein, progerin, that remains permanently farnesylated and abnormally associated with the nuclear envelope...
September 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29028702/just-because-things-are-not-different-does-not-mean-they-are-the-same-biomarker-patterns-in-acute-respiratory-distress-syndrome
#16
Manu Shankar-Hari, Gordon D Rubenfeld
No abstract text is available yet for this article.
November 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/29025800/approach-to-recurrent-fever-in-childhood
#17
REVIEW
Gordon S Soon, Ronald M Laxer
OBJECTIVE: To provide an approach to recurrent fever in childhood, explain when infections, malignancies, and immunodeficiencies can be excluded, and describe the features of periodic fever and other autoinflammatory syndromes. SOURCES OF INFORMATION: PubMed was searched for relevant articles regarding the pathogenesis, clinical findings, diagnosis, prognosis, and treatment of periodic fever and autoinflammatory syndromes. MAIN MESSAGE: Fever is a common sign of illness in children and is most frequently due to infection...
October 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28985479/mechanical-ventilation-in-adults-with-acute-respiratory-distress-syndrome-summary-of-the-experimental-evidence-for-the-clinical-practice-guideline
#18
Lorenzo Del Sorbo, Ewan Goligher, Daniel F McAuley, Gordon D Rubenfeld, Laurent J Brochard, Luciano Gattinoni, Arthur S Slutsky, Eddy Fan
RATIONALE: The ATS/ESICM/SCCM guidelines on mechanical ventilation in adult patients with acute respiratory distress syndrome provide treatment recommendations derived from a thorough analysis of the clinical evidence on six clinical interventions. However, each of the recommendations contains areas of uncertainty and controversy, which may affect their appropriate clinical application. OBJECTIVES: To provide a critical review of the experimental evidence surrounding the pathophysiology of ventilator-induced lung injury to help clinicians apply the clinical recommendations to individual patients...
October 6, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28980750/computer-vision-syndrome-and-ergonomic-practices-among-undergraduate-university-students
#19
Lizette Mowatt, Carron Gordon, Arvind Babu Rajendra Santosh, Thaon Jones
AIM: To determine the prevalence of computer vision syndrome (CVS) and ergonomic practices among students in the Faculty of Medical Sciences at The University of the West Indies (UWI), Jamaica. METHOD: A cross-sectional study was done with a self-administered questionnaire. RESULTS: Four hundred and nine students participated; 78% were females. The mean age was 21.6 years. Neck pain (75.1%), eye strain (67%), shoulder pain (65.5%) and eye burn (61...
October 5, 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28974138/cardiovascular-risk-of-adipokines-a-review
#20
Frédéric Dutheil, Brett Ashley Gordon, Geraldine Naughton, Edward Crendal, Daniel Courteix, Elodie Chaplais, David Thivel, Gérard Lac, Amanda Clare Benson
Over the last two decades, the understanding of adipose tissue has undergone radical change. The perception has evolved from an inert energy storage tissue to that of an active endocrine organ. Adipose tissue releases a cluster of active molecules named adipokines. The severity of obesity-related diseases does not necessarily correlate with the extent of body fat accumulation but is closely related to body fat distribution, particularly to visceral localization. There is a distinction between the metabolic function of central obesity (visceral abdominal) and peripheral obesity (subcutaneous) in the production of adipokines...
January 1, 2017: Journal of International Medical Research
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