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https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#1
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27905697/management-of-infertile-women-with-pelvic-endometriosis-a-literature-review
#2
Elisabeth Guinard, Pierre Collinet, Catherine Lefebvre, Geoffroy Robin, Chrystele Rubod
INTRODUCTION: Endometriosis is a condition that affects women's fertility. Several mechanisms are involved in this process: anatomical changes, mechanical, immune or inflammatory factors, ovarian reserve alterations. There are different types of strategies to treat endometriosis-related infertility: medical treatment, surgical treatment and / or techniques of medically assisted procreation. EVIDENCE ACQUISITION: We tried to consider various therapeutic strategies depending on the stage of the disease in order to offer appropriate management to patients with endometriosis who wish to become pregnant: we reviewed 58 articles between 1985 to 2016 searching in medline using the key words "endometriosis and infertility" and "infertility and endometriosis treatment"...
December 1, 2016: Minerva Ginecologica
https://www.readbyqxmd.com/read/27904236/influence-of-exercise-on-patients-with-guillain-barr%C3%A3-syndrome-a-systematic-review
#3
Nicholas Simatos Arsenault, Pierre-Olivier Vincent, Bai He Shen Yu, Robin Bastien, Aaron Sweeney
Purpose: To evaluate the effects of exercise interventions on improving physical outcomes in patients with Guillain-Barré syndrome (GBS). Methods: The PubMed database was searched for articles published up to and including February 2015. Randomized controlled trials (RCTs), case reports, and quasi-experimental and single-subject designs published in English-language, peer-reviewed journals that assessed the impact of physical exercise on patients with GBS were included; study quality was assessed using Sackett's rules of evidence...
2016: Physiotherapy Canada. Physiothérapie Canada
https://www.readbyqxmd.com/read/27901328/prognostic-value-of-interim-fdg-pet-ct-in-patients-older-than-60-years-with-diffuse-large-b-cell-lymphoma-treated-by-pmitcebo-plus-rituximab-comparison-between-deauville-5-point-scale-and-international-harmonization-project-criteria
#4
Naelle Lombion, Philippe Robin, Adrian Tempescul, Pierre Y LE Roux, Ulrike Schick, Gaëlle Guillerm, Jean C Ianotto, Christian Berthou, Pierre Y Salaün, Ronan Abgral
BACKGROUND: Advanced age is an independent poor prognostic factor of diffuse large B-cell lymphoma. PMitCEBO is an alternative to CHOP to decrease side effects in elderly patients. Many studies have shown prognostic value of an interim FDG PET-CT to predict survival. A recent consensus (ICML, Lugano 2013) has suggested using the 5-point scale Deauville criteria instead of those of the international harmonization project (IHP) to visually assess the response on interim PET. The objective of this study was to evaluate the prognostic value of an interim FDG PET-CT in patients older than 60 with treated DLBCL and to compare IHP and 5-PS Deauville visual interpretation to predict survival...
November 30, 2016: Quarterly Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/27856201/daily-practice-management-of-pt1a-b-pn0-breast-carcinoma-a-prospective-french-odissee-cohort-study
#5
Florence Dalenc, Frédérique Penault-Llorca, Monique Cohen, Gilles Houvenaeghel, Jean-Marc Piat, Philippe Liegeois, Laurent Puyuelo, Jean-Philippe Suchaud, Mohammed Zouai, Magali Lacroix-Triki, Nina Radosevic-Robin, Chahinez Benkanoun, Hanane Attar-Rabia, Marie-Pierre Chauvet, Joseph Gligorov, Yazid Belkacemi
BACKGROUND: Most breast cancer (BC) tumors ≤10 mm have an excellent prognosis. The subgroups with a higher risk for distant recurrence requiring adjuvant systemic therapy are not precisely defined in current international guidelines. PATIENTS AND METHODS: The OBSERVATOIRE DES PETITS CANCERS DU SEIN HER2 +/- (ODISSEE) study was a prospective, multicenter, cohort study that aimed to describe the daily adjuvant management and outcome of 616 patients with unifocal, invasive pT1a-b pN0 nonmetastatic BC who underwent surgery...
August 31, 2016: Clinical Breast Cancer
https://www.readbyqxmd.com/read/27833343/distraction-osteogenesis-for-management-of-severe-osa-in-pierre-robin-sequence-an-approach-to-elude-tracheostomy-in-infants
#6
N K Sahoo, I D Roy, Shamsher Dalal, Amit Bhandari
BACKGROUND: Severe obstructive sleep apnoea (OSA) is a life threatening condition associated with Pierre Robin sequence (PRS) due to mandibular micrognathia and glossoptosis. Often these patients require tracheostomy at an early age which has high morbidity. Distraction osteogenesis (DO) is an accepted method of treatment for patients with hypoplastic mandible to achieve mandibular lengthening without need for a bone graft. It has also been used in respiratory distressed neonates and infants to avoid tracheostomy...
December 2016: Journal of Maxillofacial and Oral Surgery
https://www.readbyqxmd.com/read/27830502/vitamin-a-absorption-storage-and-mobilization
#7
William S Blaner, Yang Li, Pierre-Jacques Brun, Jason J Yuen, Seung-Ah Lee, Robin D Clugston
It is well established that chylomicron remnant (dietary) vitamin A is taken up from the circulation by hepatocytes, but more than 80 % of the vitamin A in the liver is stored in hepatic stellate cells (HSC). It presently is not known how vitamin A is transferred from hepatocytes to HSCs for storage. Since retinol-binding protein 4 (RBP4), a protein that is required for mobilizing stored vitamin A, is synthesized solely by hepatocytes and not HSCs, it similarly is not known how vitamin A is transferred from HSCs to hepatocytes...
2016: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/27802208/mms19-as-a-potential-predictive-marker-of-adjuvant-chemotherapy-benefit-in-resected-non-small-cell-lung-cancer
#8
Julien Adam, Tony Sourisseau, Ken A Olaussen, Angélique Robin, Chang Q Zhu, Alexandre Templier, Alexandre Civet, Philippe Girard, Vladimir Lazar, Pierre Validire, Ming S Tsao, Jean-Charles Soria, Benjamin Besse
BACKGROUND: Resectable non-small cell lung cancer (NSCLC) treatment options most often consist of surgical resection along with adjuvant chemotherapy (ACT). The benefit of ACT however is modest and is accompanied by important side effects. OBJECTIVE: One central quest in the field is therefore the identification of a predictive marker of the response to ACT. METHODS: We applied an unbiased approach based on high content analysis of expression data generated from a discovery patient cohort...
September 26, 2016: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/27757941/composition-analysis-of-iii-nitrides-at-the-nanometer-scale-comparison-of-energy-dispersive-x-ray-spectroscopy-and-atom-probe-tomography
#9
Bastien Bonef, Miguel Lopez-Haro, Lynda Amichi, Mark Beeler, Adeline Grenier, Eric Robin, Pierre-Henri Jouneau, Nicolas Mollard, Isabelle Mouton, Eva Monroy, Catherine Bougerol
The enhancement of the performance of advanced nitride-based optoelectronic devices requires the fine tuning of their composition, which has to be determined with a high accuracy and at the nanometer scale. For that purpose, we have evaluated and compared energy dispersive X-ray spectroscopy (EDX) in a scanning transmission electron microscope (STEM) and atom probe tomography (APT) in terms of composition analysis of AlGaN/GaN multilayers. Both techniques give comparable results with a composition accuracy better than 0...
December 2016: Nanoscale Research Letters
https://www.readbyqxmd.com/read/27748028/a-chinese-patient-with-toriello-carey-syndrome-and-an-interstitial-deletion-of-3q
#10
Lulu Xie, Xianqiong Luo, Jie Yang, Junping Wang, Chuan Nie, Zhu Wang
Toriello-Carey syndrome (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, unusual facial appearance, and other anomalies. Tracheal or laryngeal anomalies are reported as a common manifestation of T-CS. These anomalies can lead to respiratory distress and respiratory tract infection. The cause of T-CS is unknown, although there have been reports of patients with a clinical diagnosis of T-CS and a chromosome anomaly...
October 17, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27730284/quality-indicators-of-continuous-renal-replacement-therapy-crrt-care-in-critically-ill-patients-a-systematic-review
#11
Oleksa G Rewa, Pierre-Marc Villeneuve, Philippe Lachance, Dean T Eurich, Henry T Stelfox, R T Noel Gibney, Lisa Hartling, Robin Featherstone, Sean M Bagshaw
OBJECTIVES: Renal replacement therapy is increasingly utilized in the intensive care unit (ICU), of which continuous renal replacement therapy (CRRT) is most common. Despite CRRT being a relatively invasive and resource intensive technology, there remains wide practice variation in its application. This systematic review appraised the evidence for quality indicators (QIs) of CRRT care in critically ill patients. DESIGN: A comprehensive search strategy was developed and performed in five citation databases (Medline, Embase, CINAHL, Cochrane Library, and PubMed) and select grey literature sources...
October 11, 2016: Intensive Care Medicine
https://www.readbyqxmd.com/read/27729133/does-canal-wall-down-mastoidectomy-benefit-syndromic-children-with-congenital-aural-stenosis
#12
Phayvanh P Sjogren, Richard K Gurgel, Albert H Park
OBJECTIVES: To determine whether a canal wall down mastoidectomy can provide long-term benefit for children with aural stenosis. METHODS: Retrospective case series of children with congenital aural stenosis having undergone a canal wall down mastoidectomy over a twelve-year period at a tertiary children's hospital. RESULTS: Data from thirteen children who underwent a total of twenty canal wall down mastoidectomies for aural stenosis were reviewed...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27723379/a-case-report-of-absent-epiglottis-in-children-with-nager-syndrome-its-impact-on-swallowing
#13
Sok Yan Tay, Woei Shyang Loh, Thiam Chye Lim
OBJECTIVE:   This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Nager syndrome. Nager syndrome has previously been described in children with Pierre Robin sequence and other syndromes. CONCLUSION:   The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries...
October 10, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27722793/outcome-and-prognostic-factors-in-a-french-cohort-of-patients-with-myositis-associated-interstitial-lung-disease
#14
Julie Obert, Olivia Freynet, Hilario Nunes, Pierre-Yves Brillet, Makoto Miyara, Robin Dhote, Dominique Valeyre, Jean-Marc Naccache
Interstitial lung disease (ILD) is a common form of extramuscular involvement in patients with polymyositis/dermatomyositis and is associated with poor prognosis. This study was designed to describe the long-term outcome of myositis-associated ILD. This retrospective observational study was conducted in 48 consecutive patients. Two groups defined according to outcome were compared to determine prognostic factors: a "severe" group (vital capacity [VC] < 50 % or carbon monoxide transfer factor [TLCO] < 35 % or death or lung transplantation) and a "nonsevere" group (other patients)...
October 8, 2016: Rheumatology International
https://www.readbyqxmd.com/read/27720995/allogeneic-stem-cell-transplantation-for-patients-age-%C3%A2-70-years-with-myelodysplastic-syndrome-a-retrospective-study-of-the-mds-subcommittee-of-the-chronic-malignancies-working-party-of-the-ebmt
#15
Silke Heidenreich, Dimitris Ziagkos, Liesbeth C de Wreede, Anja van Biezen, Jürgen Finke, Uwe Platzbecker, Dietger Niederwieser, Hermann Einsele, Wolfgang Bethge, Michael Schleuning, Dietrich W Beelen, Johanna Tischer, Arnon Nagler, Bertram Glass, Johan Maertens, Lucrecia Yáñez, Yves Beguin, Heinz Sill, Christof Scheid, Matthias Stelljes, Arnold Ganser, Pierre Zachée, Dominik Selleslag, Theo de Witte, Marie Robin, Nicolaus Kröger
In this retrospective analysis we evaluated the outcome of 313 patients aged ≥ 70 years in the registry of the European Group for Blood and Marrow Transplantation with myelodysplastic syndrome (MDS; n = 221) and secondary acute myeloid leukemia (n = 92) who underwent allogeneic hematopoietic stem cell transplantation (HSCT) from related (n = 79) or unrelated (n = 234) donors. Median age at HSCT was 72 years (range, 70 to 78). Conditioning regimen was nonmyeloablative (n = 54), reduced intensity (n = 207), or standard intensity (n = 52)...
October 5, 2016: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/27718360/does-mandibular-distraction-vector-influence-airway-volumes-and-outcome
#16
Elizabeth G Zellner, Julie M Mhlaba, Russell R Reid, Derek Steinbacher
PURPOSE: The goal of mandibular distraction in the Pierre-Robin sequence is to maximally expand the oropharyngeal airway. It has been hypothesized that a steep oblique distraction vector might allow greater airway enlargement compared with horizontal distraction. This study compared vector orientation in relation to airway volume and overall clinical outcome. MATERIALS AND METHODS: Micrognathic infants who underwent mandibular distraction with sufficient computed tomographic data were retrospectively reviewed...
September 13, 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27717910/a-case-of-constitutional-trisomy-3-mosaicism-in-a-teenage-patient-with-mild-phenotype
#17
Mariana Kekis, Sayaka Hashimoto, Carol Deeg, Inga Calloway, Aimee McKinney, Christine Shuss, Scott Hickey, Caroline Astbury
Constitutional mosaicism for trisomy 3 is extremely rare, with only a few postnatally diagnosed cases reported in the literature. We report a case of constitutional trisomy 3 mosaicism in a 16-year-old female, who presented with chronic joint pain, easy bruising, joint hypermobility and dysmorphic features, including long, thin facies, over-folded dysplastic ears, and Pierre-Robin sequence (PRS) with cleft palate. The patient was small at birth, had cleft palate repair, developed chronic joint pain at age 12, and has a history of mild leukopenia and mild thrombocytopenia...
October 4, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27712809/genetic-evaluation-for-craniofacial-conditions
#18
Howard M Saal
There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from multifactorial with an underlying genetic predisposition to chromosomal and single-gene etiologies. More than 50% of cases of Pierre Robin sequence are syndromic and 25% of craniosynostoses are syndromic. Clinical genetics evaluation is important for each patient with a craniofacial condition to make a proper diagnosis, counsel the family, and assist in management...
November 2016: Facial Plastic Surgery Clinics of North America
https://www.readbyqxmd.com/read/27693052/prehospital-and-in-hospital-course-of-care-for-patients-with-acute-heart-failure-features-and-impact-on-prognosis-in-real-life
#19
Laura Cluzol, Jennifer Cautela, Pierre Michelet, Antoine Roch, François Kerbaul, Julien Mancini, Marc Laine, Michael Peyrol, Floriane Robin, Franck Paganelli, Laurent Bonello, Franck Thuny
BACKGROUND: Acute heart failure (AHF) is a life-threatening medical emergency for which no new effective therapies have emerged in recent decades. No previous study has exhaustively described the entire course of care of AHF patients from first medical contact to hospital discharge or assessed its impact on prognosis. AIM: To fully describe the course of care and analyze its influence on outcomes in patients hospitalized with an AHF syndrome in an academic university center...
September 29, 2016: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/27680799/d3-early-prediction-of-preeclampsia-risk-assessment-analytical-determination-for-marinobufagenin-in-pregnant-women
#20
Charline Lenaerts, Liz Bond, Robin Tuytten, Cedric Delporte, Pierre Van Antwerpen, Bertrand Blankert
INTRODUCTION: Marinobufagenin (MBG), an endogenous bufadienolide cardiac inotrope, is responsible for vasoconstriction and natriuresis [1,2]. Growing interest by its implication in volume expansion mediated hypertensive states such as essential hypertension, congestive heart failure, chronic renal failure, primary aldosterism and preeclampsia (PE). Elevated endogenous MBG levels have been described early in preeclamptic patients [2-5]. AIMS: To develop a specific and sensitive analytical MBG assay with special attention for the limit of quantification (LOQ)...
August 2016: Journal of Maternal-fetal & Neonatal Medicine
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