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https://www.readbyqxmd.com/read/28328583/case-report-of-a-patient-with-idiopathic-hypersomnia-and-a-family-history-of-malignant-hyperthermia-undergoing-general-anesthesia-an-overview-of-the-anesthetic-considerations
#1
Sena Aflaki, Sally Hu, Rami A Kamel, Frances Chung, Mandeep Singh
The pathophysiologic underpinnings of idiopathic hypersomnia and its interactions with anesthetic medications remain poorly understood. There is a scarcity of literature describing this patient population in the surgical setting. This case report outlines the anesthetic considerations and management plan for a 55-year-old female patient with a known history of idiopathic hypersomnia undergoing an elective shoulder arthroscopy in the ambulatory setting. In addition, this case offers a unique set of considerations and conflicts related to the patient having a family history of malignant hyperthermia...
March 17, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#2
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28325842/surface-changes-on-comet-67p-churyumov-gerasimenko-suggest-a-more-active-past
#3
M Ramy El-Maarry, O Groussin, N Thomas, M Pajola, A-T Auger, B Davidsson, X Hu, S F Hviid, J Knollenberg, C Güttler, C Tubiana, S Fornasier, C Feller, P Hasselmann, J-B Vincent, H Sierks, C Barbieri, P Lamy, R Rodrigo, D Koschny, H U Keller, H Rickman, M F A'Hearn, M A Barucci, J-L Bertaux, I Bertini, S Besse, D Bodewits, G Cremonese, V Da Deppo, S Debei, M De Cecco, J Deller, J D P Deshapriya, M Fulle, P J Gutierrez, M Hofmann, W-H Ip, L Jorda, G Kovacs, J-R Kramm, E Kührt, M Küppers, L M Lara, M Lazzarin, Z-Yi Lin, J J Lopez Moreno, S Marchi, F Marzari, S Mottola, G Naletto, N Oklay, A Pommerol, F Preusker, F Scholten, X Shi
The Rosetta spacecraft spent ~2 years orbiting comet 67P/Churyumov-Gerasimenko, most of it at distances that allowed surface characterization and monitoring at submeter scales. From December 2014 to June 2016, numerous localized changes were observed, which we attribute to cometary-specific weathering, erosion, and transient events driven by exposure to sunlight and other processes. While the localized changes suggest compositional or physical heterogeneity, their scale has not resulted in substantial alterations to the comet's landscape...
March 21, 2017: Science
https://www.readbyqxmd.com/read/28325673/lower-limb-dynamics-and-clinical-outcomes-for-habitually-shod-runners-who-transition-to-barefoot-running
#4
Rami Hashish, Sachithra D Samarawickrame, Susan Sigward, Stanley P Azen, George J Salem
OBJECTIVES: Recent investigations have revealed lower vertical loading rates and knee energy absorption amongst experienced barefoot runners relative to those who rear-foot strike (RFS). Although this has led to an adoption of barefoot running amongst many recreational shoe runners, recent investigations indicate that the experienced barefoot pattern is not immediately realized. Therefore, the purpose this investigation was to quantify changes in lower-extremity dynamics and clinical outcomes measures for habitually shod runners who perform a transition to barefoot running...
December 10, 2016: Physical Therapy in Sport
https://www.readbyqxmd.com/read/28325503/is-a-retained-fundus-seen-on-postoperative-upper-gastrointestinal-series-after-laparoscopic-sleeve-gastrectomy-predictive-of-inferior-weight-loss
#5
Arsalan Salamat, Mohammad R Afrasiabi, Rami E Lutfi
BACKGROUND: Postoperative upper gastrointestinal series (UGI) has never been shown to be effective in ruling out leaks or obstruction after gastric bypass or sleeve gastrectomy. In sleeve gastrectomies, UGI will define the shape of the sleeve and rule out a retained fundus that was not optimally excised during surgery. OBJECTIVES: We aimed to investigate the impact of a "retained fundus" on weight loss to determine whether UGIs can be used to gauge success of the operation and predict outcome...
January 27, 2017: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28324062/gene-hormone-therapy-interaction-and-fracture-risk-in-postmenopausal-women
#6
Youjin Wang, Jean Wactawski-Wende, Lara E Sucheston-Campbell, Leah Preus, Kathleen M Hovey, Jing Nie, Rebecca D Jackson, Samuel K Handelman, Rami Nassir, Carolyn J Crandall, Heather M Ochs-Balcom
Context: Evidence supports a protective effect of menopausal hormone therapy (HT) on bone. However, whether genetic susceptibility modifies the association of HT and fracture risk is not sufficiently explored. Objective: The objective was to test an interaction between genetic susceptibility and HT on fracture risk. Design: We constructed two weighted genetic risk scores (GRSs) based on 16 fracture-associated variants (Fx-GRS) and 50 bone mineral density (BMD) variants (BMD-GRS)...
March 6, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28321966/sleep-disordered-breathing-in-chronic-heart-failure-is-highly-variable-when-measured-remotely-using-a-novel-non-contact-biomotion-sensor
#7
Kenneth McDonald, Rory O'Hanlon, Henry Oluwasefunmi Savage, Rami N Khushaba, Michael Colefax, Steven Farrugia, Faizan Javed, Klaus Schindhelm, Ian Wilcox, Martin R Cowie
We used a remotely monitored non-contact biosensor (SleepMinder™) to measure breathing during sleep (SDB) in a prospective study of 91 patients with stable class II to IV heart failure (HF). The device algorithm measures a surrogate of the traditional apnoea/hypopnoea index (AHI) measured in polysomnographic sleep studies. Data was transmitted daily to a central monitoring centre and analysed in consecutive 2-week blocks. A total of 37 465 nights over 3-24 months was analysed. An AHI of >15/h was considered clinically significant...
March 21, 2017: European Journal of Heart Failure
https://www.readbyqxmd.com/read/28321940/anatomy-of-psoas-muscle-innervation-cadaveric-study
#8
Mark A Mahan, Luke E Sanders, Jian Guan, Andrew T Dailey, William Taylor, David A Morton
INTRODUCTION: Hip flexion weakness is relatively common after lateral transpsoas surgery. Persistent weakness may result from injury to the innervation of the psoas major muscles (PMMs); however, anatomical texts have conflicting descriptions of this innervation, and the branching pattern of the nerves within the psoas major, particularly relative to vertebral anatomy, has not been described. The authors dissected human cadavers to describe the branching pattern of nerves supplying the PMMs...
March 21, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28319819/childhood-cancer-in-small-geographical-areas-and-proximity-to-air-polluting-industries
#9
Juan A Ortega-García, Fernando A López-Hernández, Alberto Cárceles-Álvarez, José L Fuster-Soler, Diana I Sotomayor, Rebeca Ramis
AIM: Pediatric cancer has been associated with exposure to certain environmental carcinogens. The purpose of this work is to analyse the relationship between environmental pollution and pediatric cancer risk. METHOD: We analysed all incidences of pediatric cancer (<15) diagnosed in a Spanish region during the period 1998-2015. The place of residence of each patient and the exact geographical coordinates of main industrial facilities was codified in order to analyse the spatial distribution of cases of cancer in relation to industrial areas...
March 16, 2017: Environmental Research
https://www.readbyqxmd.com/read/28314715/rami-seth
#10
Peter Toghill
No abstract text is available yet for this article.
March 17, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28314407/population-based-results-in-the-management-of-sinonasal-and-ventral-skull-base-malignancies
#11
REVIEW
Rami Abdou, Soly Baredes
Population-based cancer registries allow for data collection on the scale of large populations, outside the limits of a single institution, and facilitate study of rare entities. The SEER database has been used to study more than 7000 cases encompassing a wide variety of relatively rare sinonasal malignant histologies. Clinically useful parameters have been gleaned from these analyses. Important limitations, such as omission of chemotherapy data, surgical approach used, type of radiation administered, and selection and confounding bias, should be considered...
April 2017: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/28302476/the-protective-effects-of-diabetes-mellitus-on-post-evar-aaa-growth-and-reinterventions
#12
Chien Yi M Png, Rami O Tadros, Ming Kang, William E Beckerman, Melissa L Tardiff, Ageliki G Vouyouka, Michael L Marin, Peter L Faries
INTRODUCTION AND OBJECTIVE: This study aims to investigate the effect of diabetes on post-endovascular aneurysm repairs (EVAR) of abdominal aortic aneurysms (AAA). METHODS: 1479 consecutive patients who underwent AAA EVAR were reviewed. The cohorts were divided based on their diabetes status and compared. Preoperative demographic and comorbidity data were analyzed using t-test and Chi-squared test while post-EVAR outcomes were analyzed using Probit multivariate model, followed by Kaplan Meier survival curve and Cox regression...
March 13, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28300709/delayed-carotid-pseudoaneurysms-from-iatrogenic-clival-meningeal-branches-avulsion-recognition-and-proposed-management
#13
Rami Almefty, Ian F Dunn, Muhammad Ali Aziz-Sultan, Ossama Al-Mefty
Carotid injury during anterior skull base approaches is promptly recognizable and mandates immediate treatment; likewise, development of pseudoaneurysms after such injuries is anticipated and managed. We report here on the delayed development of a pseudoaneurysm as the result of avulsion of clival meningeal arteries that manifests as unalarming intraoperative bleeding that appears as brisk and arterial but very easily controlled. Immediate postoperative angiography is negative, necessitating repeated angiography to depict the delayed formation...
March 11, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28298427/systematic-protein-protein-interaction-mapping-for-clinically-relevant-human-gpcrs
#14
Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi-Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar
G-protein-coupled receptors (GPCRs) are the largest family of integral membrane receptors with key roles in regulating signaling pathways targeted by therapeutics, but are difficult to study using existing proteomics technologies due to their complex biochemical features. To obtain a global view of GPCR-mediated signaling and to identify novel components of their pathways, we used a modified membrane yeast two-hybrid (MYTH) approach and identified interacting partners for 48 selected full-length human ligand-unoccupied GPCRs in their native membrane environment...
March 15, 2017: Molecular Systems Biology
https://www.readbyqxmd.com/read/28297715/autism-gene-ube3a-and-seizures-impair-sociability-by-repressing-vta-cbln1
#15
Vaishnav Krishnan, David C Stoppel, Yi Nong, Mark A Johnson, Monica J S Nadler, Ekim Ozkaynak, Brian L Teng, Ikue Nagakura, Fahim Mohammad, Michael A Silva, Sally Peterson, Tristan J Cruz, Ekkehard M Kasper, Ramy Arnaout, Matthew P Anderson
Maternally inherited 15q11-13 chromosomal triplications cause a frequent and highly penetrant type of autism linked to increased gene dosages of UBE3A, which encodes a ubiquitin ligase with transcriptional co-regulatory functions. Here, using in vivo mouse genetics, we show that increasing UBE3A in the nucleus downregulates the glutamatergic synapse organizer Cbln1, which is needed for sociability in mice. Epileptic seizures also repress Cbln1 and are found to expose sociability impairments in mice with asymptomatic increases in UBE3A...
March 15, 2017: Nature
https://www.readbyqxmd.com/read/28286712/a-new-mourasuchus-alligatoroidea-caimaninae-from-the-late-miocene-of-venezuela-the-phylogeny-of-caimaninae-and-considerations-on-the-feeding-habits-of-mourasuchus
#16
Giovanne M Cidade, Andrés Solórzano, Ascanio Daniel Rincón, Douglas Riff, Annie Schmaltz Hsiou
Mourasuchus (Alligatoroidea, Caimaninae) is one of the most peculiar crocodyliforms due to the skull morphology consisting of a long, wide, dorsoventrally flat rostrum with long, slender mandibular rami. Despite these peculiarities, the systematics, phylogeny and feeding habits of this taxon have not been properly studied. In this paper, we describe a new species of the genus, Mourasuchus pattersoni sp. nov., from the late Miocene of the Urumaco Formation of Venezuela. The new species differs from the other Mourasuchus species in having a lateromedially wide, dorsoventrally high jugal bone and a circular incisive foramen, which both represent autapomorphies of the new taxon...
2017: PeerJ
https://www.readbyqxmd.com/read/28284270/should-active-case-finding-projects-increase-the-number-of-tuberculosis-cases-notified-at-national-level
#17
L Blok, M I Bakker, M Straetemans, L Gerstel, M Brouwer, R Stevens, V V Kamineni, O Ramis
No abstract text is available yet for this article.
April 1, 2017: International Journal of Tuberculosis and Lung Disease
https://www.readbyqxmd.com/read/28281039/proceedings-of-the-rami-section-of-otorhinolaryngology-head-and-neck-surgery-orl-hns-spring-meeting-friday-9th-december-2016-education-and-research-centre-royal-victoria-eye-and-ear-hospital-adelaide-road-dublin-2
#18
https://www.readbyqxmd.com/read/28274505/limited-fluoroscopy-catheter-ablation-of-accessory-pathways-in-children
#19
Moshe Swissa, Einat Birk, Tamir Dagan, Sody Abby Naimer, Michal Fogelman, Tom Einbinder, Elchanan Bruckheimer, Rami Fogelman
BACKGROUND: Limited fluoroscopy ablation using 3D electro-anatomical system (3DS) has been used for arrhythmias in children, however it is not a common practice. We aimed to facilitate a fluoroscopy limited approach for ablation of accessory pathways (AP) in children. METHODS: Following electrophysiologic (EP) catheter placement a single dual-plane fluoroscopic image (right anterior oblique-30° and left anterior oblique-60° views) was acquired and the 3DS views were rotated to be a perfect match to the fluoroscopy...
March 5, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28272292/the-erector-spinae-plane-block-provides-visceral-abdominal-analgesia-in-bariatric-surgery-a-report-of-3-cases
#20
Ki Jinn Chin, Laith Malhas, Anahi Perlas
Postoperative pain after bariatric surgery can be significant and yet difficult to manage. These patients frequently have associated obstructive sleep apnea and are at risk of respiratory depression with opioid analgesia. Abdominal wall blocks such as the subcostal transversus abdominis plane block are not of significant benefit, probably in part because they provide only somatic analgesia. The ultrasound-guided erector spinae plane (ESP) block is a recently described regional anesthetic technique for providing thoracic analgesia when performed at the level of the T5 transverse process...
March 8, 2017: Regional Anesthesia and Pain Medicine
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