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https://www.readbyqxmd.com/read/29764331/psychological-impact-of-von-hippel-lindau-genetic-screening-in-patients-with-a-previous-history-of-hemangioblastoma-of-the-central-nervous-system
#1
Claire Rochette, Karine Baumstarck, Hélène Canoni-Zattara, Ahmad Esmaeel Abdullah, Dominique Figarella-Branger, Morgane Pertuit, Anne Barlier, Frédéric Castinetti, Karel Pacak, Philippe Metellus, David Taïeb
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome characterized by a high risk of developing benign and malignant tumors, including central nervous system hemangioblastomas (CNS HBs). For an early diagnosis of VHL, before the occurrence of cancers (especially renal cell carcinoma), it is of huge importance to initiate VHL genetic testing in at-risk patients. The aim of the study was to assess the psychological impact of VHL genetic testing in patients previously diagnosed with a CNS HB. From 1999 until 2015, 55 patients underwent surgery for CNS HBs...
May 15, 2018: Journal of Psychosocial Oncology
https://www.readbyqxmd.com/read/29762873/l-ornithine-l-aspartate-for-prevention-and-treatment-of-hepatic-encephalopathy-in-people-with-cirrhosis
#2
REVIEW
Ee Teng Goh, Caroline S Stokes, Sandeep S Sidhu, Hendrik Vilstrup, Lise Lotte Gluud, Marsha Y Morgan
BACKGROUND: Hepatic encephalopathy is a common complication of cirrhosis and has high associated morbidity and mortality. The condition is classified as overt if it is clinically apparent or minimal if only evident though psychometric testing. The exact pathogenesis of this syndrome is unknown although ammonia is thought to play a key role. L-ornithine L-aspartate has ammonia-lowering properties and may, therefore, benefit people with cirrhosis and hepatic encephalopathy. OBJECTIVES: To evaluate the beneficial and harmful effects of L-ornithine L-aspartate versus placebo, no intervention, or other active interventions in people with cirrhosis and hepatic encephalopathy...
May 15, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29758375/alterations-in-the-microstructure-of-white-matter-in-children-and-adolescents-with-tourette-syndrome-measured-using-tract-based-spatial-statistics-and-probabilistic-tractography
#3
Hilmar P Sigurdsson, Sophia E Pépés, Georgina M Jackson, Amelia Draper, Paul S Morgan, Stephen R Jackson
Tourette syndrome (TS) is a neurodevelopmental disorder characterised by repetitive and intermittent motor and vocal tics. TS is thought to reflect fronto-striatal dysfunction and the aetiology of the disorder has been linked to widespread alterations in the functional and structural integrity of the brain. The aim of this study was to assess white matter (WM) abnormalities in a large sample of young patients with TS in comparison to a sample of matched typically developing control individuals (CS) using diffusion MRI...
April 12, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29735556/usp8-deubiquitinates-shank3-to-control-synapse-density-and-shank3-activity-dependent-protein-levels
#4
Meghan Kerrisk Campbell, Morgan Sheng
Mutations or altered protein levels of SHANK3 are implicated in neurodevelopmental disorders such as Phelan-McDermid syndrome, autism spectrum disorders, and schizophrenia (Guilmatre et al., 2014). Loss of SHANK3 in mouse models results in decreased synapse density and reduction in the levels of multiple synaptic proteins (Jiang and Ehlers, 2013). The family of SHANK scaffolding molecules are among the most heavily ubiquitinated proteins at the postsynaptic density. The ubiquitin-dependent proteasome degradation of SHANK is regulated by synaptic activity and may contribute to activity-dependent synaptic remodeling (Ehlers, 2003; Shin et al...
May 7, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29708939/outcomes-of-thermal-pulsation-treatment-for-dry-eye-syndrome-in-patients-with-sjogren-disease
#5
Morgan R Godin, Sandra S Stinnett, Preeya K Gupta
PURPOSE: To evaluate the clinical outcomes of thermal pulsation treatment in patients with meibomian gland dysfunction (MGD) and dry eye secondary to Sjogren disease. METHODS: Twenty-four eyes from 13 patients with previously diagnosed Sjogren disease who presented to our institution with dry eye symptoms and had thermal pulsation treatment were prospectively followed up. Patients underwent comprehensive slit-lamp examination, including MGD grading, gland oil flow, corneal and conjunctival staining scores, and tear break-up time (TBUT)...
April 26, 2018: Cornea
https://www.readbyqxmd.com/read/29704429/insights-into-optic-pathway-glioma-vision-loss-from-mouse-models-of-neurofibromatosis-type-1
#6
REVIEW
Morgan E Freret, David H Gutmann
Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome caused by mutations in the NF1 gene. The NF1-encoded protein (neurofibromin) is an inhibitor of the oncoprotein RAS and controls cell growth and survival. Individuals with NF1 are prone to developing low-grade tumors of the optic nerves, chiasm, tracts, and radiations, termed optic pathway gliomas (OPGs), which can cause vision loss. A paucity of surgical tumor specimens and of patient-derived xenografts for investigative studies has limited our understanding of human NF1-associated OPG (NF1-OPG)...
April 28, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29684119/aortic-stiffness-in-adolescent-turner-and-marfan-syndrome-patients
#7
Michal Schäfer, Lorna P Browne, Uyen Truong, James J Jaggers, Max B Mitchell, Ladonna Malone, Gareth Morgan, Kathryn Chatfield, Daniel McLennan, Harma Turbendian, Danial Vargas, Brian Fonseca, Michael DiMaria, Anar Shah, Margaret P Ivy, Alex J Barker, Kendall S Hunter, Neil Wilson, D Dunbar Ivy, David N Campbell
OBJECTIVES: Turner syndrome (TS) and Marfan syndrome (MFS) are partially characterized by aortopathies with a risk of developing severe aortic dilation, stiffness and consequent dissection and aneurysm formation. The incidence of a bicuspid aortic valve (BAV) is also increased in TS. We investigated aortic stiffness in teenage TS and MFS patients and evaluated to what degree stiffness in TS patients is augmented by the presence of a BAV. METHODS: Fifty-seven patients with TS (n = 37) and MFS (n = 20), as well as 22 controls with similar age and size distribution underwent evaluation of thoracic aortic stiffness using phase-contrast magnetic resonance imaging...
April 19, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29660300/the-major-orphan-forms-of-ichthyosis-are-characterized-by-systemic-t-cell-activation-and-th-17-tc-17-th-22-tc22-polarization-in-blood
#8
Tali Czarnowicki, Helen He, Alexandra Leonard, Kunal Malik, Shai Magidi, Stephanie Rangel, Krishna Patel, Kara Ramsey, Morgan Murphrey, Teresa Song, Yeriel Estrada, Hue-Chi Wen, James G Krueger, Emma Guttman-Yassky, Amy S Paller
The ichthyoses are rare skin disorders with immune and barrier aberrations. Identifying blood phenotypes may advance targeted-therapeutics.We aimed to compare frequencies of skin homing/CLA+ vs. systemic/CLA- "polar" CD4+ /CD8+ and activated T-cell subsets in ichthyosis vs. atopic dermatitis/AD, psoriasis and control blood, with appropriate clinical correlations. Flow cytometry was used to measure IFN-γ, IL-13, IL-9, IL-17, and IL-22 cytokines in CD4+ /CD8+ T-cells, with ICOS and HLA-DR defining mid- and long-term T-cell activation, respectively...
April 13, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29657470/influence-of-timing-of-surgery-on-cauda-equina-syndrome-outcomes-at-a-national-spinal-centre
#9
Gavin Heyes, Morgan Jones, Eugene Verzin, Greg McLorinan, Nagy Darwish, Niall Eames
Purpose: There is no doubt that the best outcome achieved in Cauda equina syndrome (CES) involves surgical decompression. The controversy regarding outcome lies with timing of surgery. This study reports outcomes on a large population based series. Timing of surgery, Cauda Equina syndrome classification based on British Association of Spine Surgeons (BASS) guidelines and co-morbid illness will be assessed to evaluate influence on outcome. Materials and methods: A retrospective review of all patients surgically decompressed for CES between 01/01/2008 to 01/08/2014 was conducted...
March 2018: Journal of Orthopaedics
https://www.readbyqxmd.com/read/29648599/polycystic-ovary-syndrome-is-associated-with-adverse-mental-health-and-neurodevelopmental-outcomes
#10
Thomas R Berni, Christopher L Morgan, Ellen R Berni, D Aled Rees
Context: Polycystic ovary syndrome (PCOS) is characterized by hyperandrogenism and subfertility but the effects on mental health and child neurodevelopment are unclear. Objectives: To determine if (i) there is an association between PCOS and psychiatric outcomes, and (ii) whether rates of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are higher in children of mothers with PCOS. Design: Data were extracted from the Clinical Practice Research Datalink...
April 10, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29627131/treatment-of-toxic-epidermal-necrolysis-by-a-multidisciplinary-team-a-review-of-literature-and-treatment-results
#11
Anthony Papp, Sheena Sikora, Morgan Evans, Diana Song, Mark Kirchhof, Monica Miliszewski, Jan Dutz
BACKGROUND: Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are mucocutaneous hypersensitivity reactions, usually to drugs or their metabolites. TEN is the most severe involving greater than 30% of the total body surface area (TBSA). Management of these patients usually benefits from a large multidisciplinary team for both wound and medical management. Treatment of these patients varies between centers and physicians and there is lack of a standardized treatment protocol in the medical literature...
April 4, 2018: Burns: Journal of the International Society for Burn Injuries
https://www.readbyqxmd.com/read/29618221/-sacred-pause-in-the-icu-evaluation-of-a-ritual-and-intervention-to-lower-distress-and-burnout
#12
Sumit Kapoor, Christopher K Morgan, Muhammad Asim Siddique, Kalpalatha K Guntupalli
BACKGROUND: Increased exposure to deaths in the intensive care unit (ICU) generate grief among ICU staff, which remains unresolved most of the time. Unresolved grief becomes cumulative and presents a risk factor for burnout. "sacred pause" is a ritual performed at patient's death to honor the lost life and recognize the efforts of the health-care team. OBJECTIVE: To study the impact of the ritual of sacred pause on the attitudes and behaviors of the ICU physicians and nurses...
January 1, 2018: American Journal of Hospice & Palliative Care
https://www.readbyqxmd.com/read/29605658/novel-mutations-in-the-ciliopathy-associated-gene-cplane1-c5orf42-cause-ofd-syndrome-type-vi-rather-than-joubert-syndrome
#13
Carine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni, Alvin Yu Jin Ng, Sumanty Tohari, Kakaly Ghosh, Angeline Lai, Jiin Ying Lim, Ene Choo Tan, Louise Devisme, Morgane Stichelbout, Adila Alkindi, Nazreen Banu, Zafer Yüksel, Jamal Ghoumid, Nadia Elkhartoufi, Lucile Boutaud, Alessia Micalizzi, Maggie Siewyan Brett, Byrappa Venkatesh, Enza Maria Valente, Tania Attié-Bitach, Bruno Reversade, Ariana Kariminejad
Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syndrome (JS) phenotypes. Seven new cases from five unrelated families diagnosed with pure OFD6 were systematically examined. Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and include the seven most common characteristics: 1) molar tooth sign, 2) tongue hamartoma and/or lobulated tongue, 3) additional frenula, 4) mesoaxial polydactyly of hands, 5) preaxial polydactyly of feet, 6) syndactyly and/or bifid toe, and 7) hypothalamic hamartoma...
March 29, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29602767/in-hospital-outcomes-of-dual-loading-antiplatelet-therapy-in-patients-75-years-and-older-with-acute-coronary-syndrome-undergoing-percutaneous-coronary-intervention-findings-from-the-ccc-acs-improving-care-for-cardiovascular-disease-in-china-acute-coronary-syndrome
#14
Guanqi Zhao, Mengge Zhou, Changsheng Ma, Yong Huo, Sidney C Smith, Gregg C Fonarow, Junbo Ge, Yaling Han, Jing Liu, Yongchen Hao, Jun Liu, Xiao Wang, Kathryn A Taubert, Louise Morgan, Dong Zhao, Shaoping Nie
BACKGROUND: Elderly patients with acute coronary syndrome (ACS) are at high risk for ischemic and bleeding events. This study aimed to evaluate the clinical effectiveness and safety of dual loading antiplatelet therapy for patients 75 years and older undergoing percutaneous coronary intervention for ACS. METHODS AND RESULTS: The Improving Care for Cardiovascular Disease in China-ACS project was a collaborative study of the American Heart Association and Chinese Society of Cardiology...
March 30, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29572733/williams-syndrome-and-anesthesia-for-non-cardiac-surgery-high-risk-can-be-mitigated-with-appropriate-planning
#15
Morgan L Brown, Viviane G Nasr, Rebecca Toohey, James A DiNardo
Patients with Williams syndrome are considered at high risk for anesthesia-related adverse events. At our institution, all William syndrome patients undergoing cardiac surgical, cardiac catheterization/interventional procedures, and cardiac imaging studies are cared for by cardiac anesthesiologists. All William syndrome patients undergoing non-cardiac surgical, interventional, or imaging studies are cared for by main operating room pediatric anesthesiologists with consultative input from a cardiac anesthesiologist...
March 23, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29561180/non-pharmacological-interventions-for-restless-legs-syndrome-a-systematic-review-of-randomised-controlled-trials
#16
Eloise G Harrison, Jennifer L Keating, Prue E Morgan
INTRODUCTION: Restless legs syndrome (RLS) is a sensorimotor disorder characterised by an uncomfortable urge to move the legs. Management is primarily pharmacological. Effects for non-pharmacological, non-surgical options are published but lack systematic examination. OBJECTIVES: To synthesise results of non-pharmacological/non-surgical treatment compared to no-treatment controls or alternative treatment for RLS on any relevant outcome. METHODS: Databases and reference lists of reviews were searched for randomised controlled trials (RCTs) comparing non-pharmacological treatment to alternative or no treatment controls for idiopathic RLS...
March 21, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29533819/randomized-trial-of-transcranial-alternating-current-stimulation-for-treatment-of-auditory-hallucinations-in-schizophrenia
#17
Juliann M Mellin, Sankaraleengam Alagapan, Caroline Lustenberger, Courtney E Lugo, Morgan L Alexander, John H Gilmore, L Fredrik Jarskog, Flavio Fröhlich
BACKGROUND: Approximately 30% of patients with schizophrenia experience auditory hallucinations that are refractory to antipsychotic medications. Here, we evaluated the feasibility and efficacy of transcranial alternating current stimulation (tACS) that we hypothesized would improve auditory hallucination symptoms by enhancing synchronization between the frontal and temporo-parietal areas of the left hemisphere. METHOD: 22 participants were randomized to one of three arms and received twice daily, 20 min sessions of sham, 10 Hz 2 mA peak-to-peak tACS, or 2 mA tDCS over the course of 5 consecutive days...
March 10, 2018: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29532206/metachronous-colorectal-cancer-risk-in-lynch-syndrome-patients-should-the-endoscopic-surveillance-be-more-intensive
#18
Morgan Anyla, Jérémie H Lefevre, Ben Creavin, Chrystelle Colas, Magali Svrcek, Olivier Lascols, Clotilde Debove, Najim Chafai, Emmanuel Tiret, Yann Parc
PURPOSE: Regular follow-up for patients with Lynch syndrome (LS) is vital due to the increased risk of colorectal (50-80%), endometrial (40-60%), and other cancers. However, there is an ongoing debate concerning the best interval between colonoscopies. Currently, no specific endoscopic follow-up has been decided for LS patients who already have an index colorectal cancer (CRC). The aim of this study was to evaluate the risk of metachronous cancers (MC) after primary CRC in a LS population and to determinate if endoscopic surveillance should be more intensive...
June 2018: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/29531742/-mycoplasma-pneumoniae-induced-mucositis-without-rash-in-an-11-year-old-boy
#19
Morgan Bowling, Tyler Schmutzler, Sarah Glick
Mycoplasma pneumoniae is a frequent cause of childhood pneumonia, and extrapulmonary manifestations may be noted at the time of infection. While M. pneumoniae has long been associated with Stevens-Johnson syndrome, a separate diagnostic entity, Mycoplasma pneumoniae- induced rash and mucositis (MIRM), has recently been proposed to better characterize the rash and severe mucositis that some patients exhibit. A subset of patients with MIRM will have mucositis without skin rash. Physicians should recognize this clinical entity and be familiar with treatment options for MIRM...
March 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29529713/routine-screening-and-related-interventions-significantly-improve-the-effectiveness-of-emergency-department-detection-and-management-of-alcohol-withdrawal-syndrome
#20
Julia M Lappin, Muhammad H Ayub, David Rogers, Madeleine Morgan, Jean-Yves Kanyamibwa, Anthony Shakeshaft
OBJECTIVE: To evaluate the effectiveness of a routine screening and triage tool for alcohol withdrawal syndrome (AWS) in improving clinical care delivery in an ED setting. METHODS: In a regional ED in Australia, a screening and triage tool for AWS was introduced to routine ED assessment for a 13 week period. Subjects were all presentations to ED aged 16 and above with relevant presenting problems during the pre-intervention phase (1 January 2015-31 December 2016) and the post-intervention phase (8 August 2016-4 November 2016)...
March 12, 2018: Emergency Medicine Australasia: EMA
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