Read by QxMD icon Read

charge syndrome

K L Ostrow, A L Bergner, J Blakeley, D G Evans, R Ferner, J M Friedman, G J Harris, J T Jordan, B Korf, S Langmead, G Leschziner, V Mautner, V L Merker, L Papi, S R Plotkin, J M Slopis, M J Smith, A Stemmer-Rachamimov, K Yohay, A J Belzberg
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered...
October 19, 2016: American Journal of Medical Genetics. Part A
Jan-Folkard Willms, Gerasimos Baltsavias, Jan-Karl Burkhardt, Silvia Ernst, Alexander A Tarnutzer
We discuss a case with combined vestibulocochlear and facial neuropathy mimicking a less urgent peripheral vestibular pattern of acute vestibular syndrome (AVS). With initial magnetic resonance imaging read as normal, the patient was treated for vestibular neuropathy until headaches worsened and a diagnosis of subarachnoid hemorrhage was made. On conventional angiography, a ruptured distal right-sided aneurysm of the anterior inferior cerebellar artery was diagnosed and coiled. Whereas acute vestibular loss usually points to a benign peripheral cause of AVS, combined neuropathy of the vestibulocochlear and the facial nerve requires immediate neuroimaging focusing on the cerebellopontine angle...
October 13, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Diana Karpman, Peter Höglund
Orphan drugs designed to treat rare diseases are often overpriced per patient. Novel treatments are sometimes even more expensive for patients with ultra-rare diseases, in part due to the limited number of patients. Pharmaceutical companies that develop a patented life-saving drug are in a position to charge a very high price, which, at best, may enable these companies to further develop drugs for use in rare disease. However, is there a limit to how much a life-saving drug should cost annually per patient? Government interventions and regulations may opt to withhold a life-saving drug solely due to its high price and cost-effectiveness...
October 13, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Amber Smith, Mary Beth Feuling, Catherine Larson-Nath, Catherine Karls, Megan Van Hoorn, Cassandra L S Walia, Carly Leon, Elaine Danner, Pam Opichka, Lori Duesing, Alfonso Martinez, Praveen S Goday
BACKGROUND: The primary hypothesis of this article is that a team approach in creating a protocolized laboratory monitoring schedule for home parenteral nutrition (PN) patients improves patient safety by decreasing the occurrence of nutrition deficiencies and is cost-effective. METHODS: In this prospective cohort study of home PN patients, each patient followed an established protocol of laboratory monitoring and weekly review by an interdisciplinary team of dietitians, nurses, and physicians...
October 11, 2016: JPEN. Journal of Parenteral and Enteral Nutrition
Leroy R Lindsay, Heechin Chae
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Matthew D Benson, Imran Jivraj, Karim F Damji, Carlos E Solarte
PURPOSE: To report a rare case of congenital glaucoma in a patient with CHARGE syndrome, present gonioscopic photographs, and explore mechanisms of disease that may account for this association. PATIENTS AND METHODS: We describe a 35-week-old girl with previously diagnosed CHARGE syndrome who presented with corneal edema, buphthalmos, and elevated intraocular pressure in the left eye. She was subsequently diagnosed with congenital glaucoma and started on topical and oral therapy...
September 21, 2016: Journal of Glaucoma
E Mousty, J M Faure, F Grosjean, C Coubes, V Letouzey, F Fuchs
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
Antonio Perez-Aytes, Purificacion Marin-Reina, Virginia Boso, Ana Ledo, John C Carey, Maximo Vento
Mycophenolate mofetil (MMF) is probably the most common employed immunosuppressant drug in recipients of solid organ transplant and in many autoimmune diseases. In vitro studies, a significant number of single clinical observations and a recent study from a group of different European teratogen information services, have provided very consistent data supporting the existence of a specific MMF embryopathy. The typical malformative pattern of MMF embryopathy includes external ear anomalies ranging from hypoplastic pinna (microtia) to complete absence of pinna (anotia); cleft lip, with or without cleft palate, and ocular anomalies as iris or chorioretinal coloboma and anophthalmia/microphthalmia...
September 14, 2016: European Journal of Medical Genetics
A M Bronstein
This chapter provides an introduction to the topic of multisensory integration in balance control in, both, health and disease. One of the best-studied examples is that of visuo-vestibular interaction, which is the ability of the visual system to enhance or suppress the vestibulo-ocular reflex (VOR suppression). Of clinical relevance, examination of VOR suppression is clinically useful because only central, not peripheral, lesions impair VOR suppression. Visual, somatosensory (proprioceptive), and vestibular inputs interact strongly and continuously in the control of upright balance...
2016: Handbook of Clinical Neurology
Annemarie Vesseur, Rolien Free, Margreet Langereis, Chantal Snels, Ad Snik, Conny van Ravenswaaij-Arts, Emmanuel Mylanus
OBJECTIVE: Identifying aspects for establishing cochlear implantation guidelines for patients with ocular coloboma, heart defects, atresia of the choanae, retardation (of growth and/or of development), genital anomalies, and ear anomalies (CHARGE) syndrome (CS). STUDY DESIGN: Explorative retrospective study. SETTING: Cochlear implant (CI)-centers of tertiary referral centers in The Netherlands. PATIENTS: Ten patients with CS who received a CI between 2002 and 2012...
October 2016: Otology & Neurotology
Vivian S Lee, Kensaku Kawamoto, Rachel Hess, Charlton Park, Jeffrey Young, Cheri Hunter, Steven Johnson, Sandi Gulbransen, Christopher E Pelt, Devin J Horton, Kencee K Graves, Tom H Greene, Yoshimi Anzai, Robert C Pendleton
IMPORTANCE: Transformation of US health care from volume to value requires meaningful quantification of costs and outcomes at the level of individual patients. OBJECTIVE: To measure the association of a value-driven outcomes tool that allocates costs of care and quality measures to individual patient encounters with cost reduction and health outcome optimization. DESIGN, SETTING, AND PARTICIPANTS: Uncontrolled, pre-post, longitudinal, observational study measuring quality and outcomes relative to cost from 2012 to 2016 at University of Utah Health Care...
September 13, 2016: JAMA: the Journal of the American Medical Association
Carmen Alonso, Peter C Raynor, Peter R Davies, Robert B Morrison, Montserrat Torremorell
Influenza A virus (IAV), porcine reproductive and respiratory syndrome virus (PRRSV), porcine epidemic diarrhea virus (PEDV) and Staphylococcus aureus are important swine pathogens capable of being transmitted via aerosols. The electrostatic particle ionization system (EPI) consists of a conductive line that emits negative ions that charge particles electrically resulting in the settling of airborne particles onto surfaces and potentially decreasing the risk of pathogen dissemination. The objectives of this study were to determine the effect of the EPI system on the quantity and viability of IAV, PRRSV, PEDV and S...
2016: Aerobiologia
Ouahiba Sihali-Beloui, Salima El-Aoufi, Boubekeur Maouche, Sergio Marco
The aim of our transmission electron microscope study was to show, for the first time, the alteration of liver cells involved in the evolution of steatosis to steatohepatitis on a murine model of the diet-induced metabolic syndrome, Psammomys obesus. This pathologic evolution was induced by using the standard laboratory diet during 10 months, and analyzed with metabolic studies and the immunohistochemistry technique. Four months later, hepatocytes charged with lipid vacuoles were involved in autophagy. Furthermore, in the sinusoids, we observed Kupffer cells, neutrophils and macrophages...
September 28, 2016: Comptes Rendus Biologies
Justin C Paul, Baron S Lonner, Shaleen Vira, David Feldman, Thomas J Errico
STUDY DESIGN: Retrospective cohort study of spine fusion surgery utilizing the New York State Inpatient Database. OBJECTIVE: The objective was to determine whether there were differences in reoperation rates among pediatric scoliosis associated with various etiologies compared with idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: The incidence of postoperative complications and reoperations is known to vary among patients with diverse scoliosis pathologies...
September 3, 2016: Journal of Pediatric Orthopedics
Wen-Hua He, Min Yu, Yin Zhu, Liang Xia, Pi Liu, Hao Zeng, Yong Zhu, Nong-Hua Lv
OBJECTIVES: To compare the value of emergent triglyceride (TG)-lowering therapies between early high-volume hemofiltration (HVHF) and low-molecular-weight heparin (LMWH) combined with insulin (LMWH+insulin) as well as their effects on the outcomes of hypertriglyceridemic pancreatitis (HTGP) patients. METHODS: In this randomized controlled trial, 66 HTGP patients presenting within 3 days after the onset of symptoms from August 2011 to October 2013 were assigned randomly to receive either HVHF or LMWH+insulin as an emergent TG-lowering therapy...
October 2016: Journal of Clinical Gastroenterology
G Bademci, F B Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, T Atik, T Kirazli, L Olgun, H Alper, I Menendez, I Loclar, G Sennaroglu, S Tokgoz-Yilmaz, S Guo, Y Olgun, N Mahdieh, M Bonyadi, N Bozan, A Ayral, F Ozkinay, M Yildirim-Baylan, S H Blanton, M Tekin
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D)...
2016: Scientific Reports
Yoon Chan Rah, Ji Young Lee, Myung-Whan Suh, Moo Kyun Park, Jun Ho Lee, Sun O Chang, Seung-Ha Oh
OBJECTIVE: To determine the optimal surgical approach for cochlear implantation (CI) preoperatively based on the spatial relation of a displaced facial nerve (FN) and middle ear structures and to analyze clinical outcomes of CHARGE syndrome. METHODS: Facial nerve displacement and associated deviation of inner ear structures were analyzed in 13 patients (17 ears) with CHARGE syndrome who underwent CI. Surgical accessibility through the facial recess was assessed based on anatomical landmarks...
November 2016: Annals of Otology, Rhinology, and Laryngology
Bryan C Mounce, Teresa Cesaro, Gonzalo Moratorio, Peter Jan Hooikaas, Anna Yakovleva, Scott W Werneke, Everett Clinton Smith, Enzo Z Poirier, Etienne Simon-Loriere, Matthieu Prot, Carole Tamietti, Sandrine Vitry, Romain Volle, Cécile Khou, Marie-Pascale Frenkiel, Anavaj Sakuntabhai, Francis Delpeyroux, Nathalie Pardigon, Marie Flamand, Giovanna Barba-Spaeth, Monique Lafon, Mark R Denison, Matthew L Albert, Marco Vignuzzi
: RNA viruses present an extraordinary threat to human health, given their sudden and unpredictable appearance, the potential for rapid spread among the human population, and their ability to evolve resistance to antiviral therapies. The recent emergence of chikungunya virus, Zika virus, and Ebola virus highlights the struggles to contain outbreaks. A significant hurdle is the availability of antivirals to treat the infected or protect at-risk populations. While several compounds show promise in vitro and in vivo, these outbreaks underscore the need to accelerate drug discovery...
November 1, 2016: Journal of Virology
Nancy L Segal
The 2016 Satellite Meeting of the International Society of Twin Studies took place on June 20 in Brisbane, Australia. The host institution was the QIMR Berghofer Medical Research Institute. An overview of selected presentations and activities is provided. This synopsis is followed by a brief tribute to the recent passing of our esteemed colleague, Dr Irving I. Gottesman. Next, there are summaries of research on monozygotic twinning after single embryo transfer, a twin study of mononucleosis susceptibility, cerebral injury following twin-to-twin transfusion syndrome surgery, and a correction and clarification regarding an article by Segal (2016) on the Brazilian Twin Registry...
October 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
Alexander C Ewing, Sascha R Ellington, Carrie K Shapiro-Mendoza, Wanda D Barfield, Athena P Kourtis
Objectives The magnitude, characteristics, and morbidity of term (≥37 weeks gestation) newborns that are small-for-gestational-age (SGA) in the U.S. are underexplored. We sought to examine characteristics and trends for SGA-coded term newborns in the U.S. Methods Data were obtained from the Nationwide Inpatient Sample, a nationally representative database of hospital stays in the U.S. from 2002 to 2011. Term, singleton newborns with SGA codes were identified and examined over the study period. Demographic characteristics were compared for term newborns according to presence of SGA codes using χ(2) tests...
August 8, 2016: Maternal and Child Health Journal
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"