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https://www.readbyqxmd.com/read/27909936/disability-depression-diagnosis-and-harm-reflections-on-two-personal-scenarios
#1
G Thomas Couser
In this article I draw on two scenarios from my personal life-the diagnosis of my newborn grandnephew with CHARGE syndrome and the diagnosis of my father with depression-to reflect on whether and when diagnosis may be harmful to patients (and their families). Despite the great differences between the two scenarios, I argue that in both cases the tendency of diagnosis to generalize, categorize, and stigmatize can lead to insidious and counterproductive effects. The perspective of disability studies can help physicians to anticipate, minimize or avoid these negative ramifications...
December 1, 2016: Journal of Medical Humanities
https://www.readbyqxmd.com/read/27907936/early-treatment-for-neonatal-abstinence-syndrome-a-palliative-approach
#2
Jennifer Hudson, Rachel Mayo, Lori Dickes, Liwei Chen, Windsor Westbrook Sherrill, Julie Summey, Bradley Dalton, Kindal Dankovich
Objective To describe medical, safety, and health care utilization outcomes associated with an early treatment model for neonatal opioid withdrawal. Study Design This is a retrospective review of 117 opioid-exposed infants born in a large regional hospital and treated in the level I nursery with methadone initiated within 48 hours of birth. Results For this cohort, mean length of stay was 8.3 days. Hospital safety events were infrequent; there were no medication errors or deaths. Within 30 days of discharge, 14% of infants visited the emergency department; 7% were readmitted...
December 1, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27892522/sars-cov-fusion-peptides-induce-membrane-surface-ordering-and-curvature
#3
Luis G M Basso, Eduardo F Vicente, Edson Crusca, Eduardo M Cilli, Antonio J Costa-Filho
Viral membrane fusion is an orchestrated process triggered by membrane-anchored viral fusion glycoproteins. The S2 subunit of the spike glycoprotein from severe acute respiratory syndrome (SARS) coronavirus (CoV) contains internal domains called fusion peptides (FP) that play essential roles in virus entry. Although membrane fusion has been broadly studied, there are still major gaps in the molecular details of lipid rearrangements in the bilayer during fusion peptide-membrane interactions. Here we employed differential scanning calorimetry (DSC) and electron spin resonance (ESR) to gather information on the membrane fusion mechanism promoted by two putative SARS FPs...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27884613/appendectomy-in-patients-with-human-immunodeficiency-virus-not-as-bad-as-we-once-thought
#4
Michael C Smith, Paul J Chung, Yohannes C Constable, Matthew R Boylan, Antonio E Alfonso, Gainosuke Sugiyama
BACKGROUND: The number of patients living with human immunodeficiency virus and acquired immunodeficiency syndrome is growing due to advances in antiretroviral therapy. Existing literature on appendectomy within this patient population has been limited by small sample sizes. Therefore, we used a large, multiyear, nationwide database to study this topic comprehensively. METHODS: Using the Nationwide Inpatient Sample, we identified 338,805 patients between 2005 and 2012 who underwent laparoscopic or open appendectomy for acute appendicitis...
November 21, 2016: Surgery
https://www.readbyqxmd.com/read/27881329/oral-features-and-computerized-rehabilitation-of-a-young-patient-with-charge-syndrome-using-minimally-invasive-long-term-interim-cad-cam-restorations
#5
Anja Liebermann, Caroline Freitas Rafael, Daniel Edelhoff, Marc Ramberger, Josef Schweiger, Claudia Angela Maziero Volpato, Reza Saeidi Pour
Patients with CHARGE syndrome (where CHARGE stands for coloboma of the iris or retina, heart defects or cardiac malformations, atresia/stenosis of the choanae, retardation of growth and development, genital anomalies, and ear abnormalities) present several orofacial anomalies. Their treatment depends on the specific type of manifestation. To perform the complex oral rehabilitation and achieve a conservative, esthetic, and functional exploration of the definitive treatment goal, computer-aided design and computer-aided manufacturing (CAD-CAM) polymers can be used as long-term interim restorations...
October 27, 2016: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/27875026/disseminated-bcg-pneumonitis-revealing-severe-combined-immunodeficiencyxs-in-charge-syndrome
#6
Hyung Young Kim, Yoo-Mi Kim, Hee Ju Park
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected...
November 22, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27863650/perioperative-considerations-and-complications-in-pediatric-parathyroidectomy
#7
Curtis Hanba, Michael Bobian, Peter F Svider, Anthony Sheyn, Bianca Siegel, Ho-Sheng Lin, S Naweed Raza
OBJECTIVES/HYPOTHESIS: To evaluate perioperative considerations and post-operative complications associated with parathyroidectomy in the pediatric population. METHODS: The Kids' Inpatient Database 21 (KID) was searched for patients who underwent parathyroidectomy in 2009 and 2012. Patient demographics, hospital stay, associated charges, and post-operative adverse sequelae were evaluated in all patients and included patient comorbidity and additional procedure requirement analysis...
December 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27846005/novel-emergency-department-risk-score-discriminates-acute-coronary-syndrome-among-chest-pain-patients-with-known-coronary-artery-disease
#8
Matthew T Crim, Scott A Berkowitz, Mustapha Saheed, Jason Miller, Amy Deutschendorf, Gary Gerstenblith, Peter Hill, Frederick K Korley
BACKGROUND: Patients with known coronary artery disease presenting to the emergency department (ED) with chest pain are often admitted, yet may not be having an acute coronary syndrome (ACS). METHODS: We assessed whether the use of a novel risk score and a modified thrombolysis in myocardial infarction risk score obtained in the ED could discriminate which of these high-risk patients have ACS. Chart review was performed on a cohort of 285 patients with known coronary artery disease presenting to the ED with chest pain thought to be of ischemic origin and admitted to the hospital...
December 2016: Critical Pathways in Cardiology
https://www.readbyqxmd.com/read/27843125/recessive-mutations-in-acpt-encoding-testicular-acid-phosphatase-cause-hypoplastic-amelogenesis-imperfecta
#9
Figen Seymen, Youn Jung Kim, Ye Ji Lee, Jenny Kang, Tak-Heun Kim, Hwajung Choi, Mine Koruyucu, Yelda Kasimoglu, Elif Bahar Tuna, Koray Gencay, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Sang-Hoon Lee, Zang Hee Lee, Hong Zhang, Jan C-C Hu, James P Simmer, Eui-Sic Cho, Jung-Wook Kim
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders affecting tooth enamel. The affected enamel can be hypoplastic and/or hypomineralized. In this study, we identified ACPT (testicular acid phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six apparently unrelated Turkish families. Families 1, 4, and 5 were affected by the homozygous ACPT mutation c.713C>T (p.Ser238Leu), family 2 by the homozygous ACPT mutation c...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27832265/prevalence-of-semicircular-canal-hypoplasia-in-patients-with-charge-syndrome-3c-syndrome
#10
Andre Wineland, Maithilee D Menezes, Joshua S Shimony, Marwan S Shinawi, Timothy E Hullar, Keiko Hirose
Importance: CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome. Objective: To characterize patients with CHARGE syndrome at our center using Verloes' criteria and to reevaluate the nomenclature for this condition...
November 10, 2016: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/27802861/financial-impact-of-a-targeted-reduction-in-cardiac-enzyme-testing-at-a-community-hospital
#11
Li Zhang, Anne M Sill, Ilene Young, Sabreen Ahmed, Maria Morales, Sapna Kuehl
OBJECTIVES: Nearly one-third of healthcare costs are potentially avoidable and would not compromise medical care if eliminated. Therefore, we sought to evaluate the financial impact of reduction in use of creatinine kinase (CK)-MB and myoglobin tests after removing them from the cardiac enzyme order set at a community hospital. METHODS: Grand rounds were held, and an email notification was sent to de-emphasize the use of CK, CK-MB, myoglobin, SGOT (glutamic-oxaloacetic transaminase), and SGPT (serum glutamic-pyruvic transaminase) in acute coronary syndrome (ACS) work up...
2016: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/27799617/pathogenic-variants-in-complement-genes-and-risk-of-atypical-hemolytic-uremic-syndrome-relapse-after-eculizumab-discontinuation
#12
Fadi Fakhouri, Marc Fila, François Provôt, Yahsou Delmas, Christelle Barbet, Valérie Châtelet, Cédric Rafat, Mathilde Cailliez, Julien Hogan, Aude Servais, Alexandre Karras, Raifah Makdassi, Feriell Louillet, Jean-Philippe Coindre, Eric Rondeau, Chantal Loirat, Véronique Frémeaux-Bacchi
BACKGROUND AND OBJECTIVES: The complement inhibitor eculizumab has dramatically improved the outcome of atypical hemolytic uremic syndrome. However, the optimal duration of eculizumab treatment in atypical hemolytic uremic syndrome remains debated. We report on the French atypical hemolytic uremic syndrome working group's first 2-year experience with eculizumab discontinuation in patients with atypical hemolytic uremic syndrome. DESIGN, SETTING, PARTICIPANTS & MEASUREMENTS: Using the French atypical hemolytic uremic syndrome registry database, we retrospectively identified all dialysis-free patients with atypical hemolytic uremic syndrome who discontinued eculizumab between 2010 and 2014 and reviewed their relevant clinical and biologic data...
October 31, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27795409/structural-biology-of-the-arterivirus-nsp11-endoribonucleases
#13
Manfeng Zhang, Xiaorong Li, Zengqin Deng, Zhenhang Chen, Yang Liu, Yina Gao, Wei Wu, Zhongzhou Chen
: Endoribonuclease (NendoU) is unique and conserved as a major genetic marker in nidoviruses that infect vertebrate hosts. Arterivirus non-structural protein (nsp) 11 was shown to have NendoU activity and play essential roles in the viral life cycle. Here, we report three crystal structures of porcine reproductive and respiratory syndrome virus (PRRSV) and equine arteritis virus (EAV) nsp11 mutants. The structures of arterivirus nsp11 contain two conserved compact domains: N-terminal domain (NTD) and C-terminal domain (CTD)...
October 19, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27794444/genotype-phenotype-correlations-in-pathology-caused-by-collagen-type-iv-alpha-1-and-2-mutations
#14
REVIEW
Marion Jeanne, Douglas B Gould
COL4A1 and COL4A2 are extracellular matrix proteins that form heterotrimers and are present in nearly all basement membranes in every organ. In the past decade, COL4A1 and COL4A2 mutations have been identified to cause a multi-system disorder for which penetrance and severity of constituent phenotypes can greatly vary. Here, we compare the outcomes of more than 100 mutations identified in patients and data from a murine allelic series to explore the presence of genotype-phenotype correlations - many of which are shared among other types of collagen...
October 26, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/27777548/crush-syndrome-chez-l%C3%A2-adulte-et-problematique-de-sa-prise-en-charge-a-la-phase-aigu%C3%A3
#15
P F Hemou, H D Sama, P Tchétikè, T Potkar
Le crush syndrome se définit comme l'ensemble des manifestations locales et générales secondaires à une rhabdomyolyse traumatique avec ischémie de grosses masses musculaires par compression prolongée, à l'origine d'un syndrome compartimental ou syndrome des loges. Rarement isolé, il peut passer inaperçu dans les 24 à 48 premières heures de la phase aiguë d'un traumatisme sévère quand les principales préoccupations médicales sont la sauvegarde des fonctions vitales. La souffrance musculaire liée au syndrome compartimental entraîne la libération de myoglobine dans la circulation générale...
December 31, 2015: Annals of Burns and Fire Disasters
https://www.readbyqxmd.com/read/27765561/impact-of-parkinson-s-disease-on-perioperative-complications-and-hospital-cost-in-multilevel-spine-fusion-a-population-based-analysis
#16
Shearwood McClelland, Joseph F Baker, Justin S Smith, Breton G Line, Thomas J Errico, Christopher P Ames, R Shay Bess
Parkinson's disease (PD) is a neurodegenerative disorder manifesting over time to result in reduced mobility. The impact of PD on spinal fusion has yet to be addressed on a nationwide level. The Nationwide Inpatient Sample (NIS) from 2001 to 2012 was used for analysis. Admissions with spinal fusion of two or more vertebrae (ICD-9 codes=81.62, 81.63 and 81.64) were included and then stratified based on the presence or absence of PD (ICD-9 code=332.0); patients with cancer (ICD-9 codes=140-239) or trauma (ICD-9 codes=805...
October 17, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27761313/comparative-functional-characterization-of-novel-non-syndromic-gjb2-gene-variant-p-gly45arg-and-lethal-syndromic-variant-p-gly45glu
#17
Juan Rodriguez-Paris, Jörg Waldhaus, Jeenal A Gordhandas, Lynn Pique, Iris Schrijver
We characterized a novel GJB2 missense variant, c.133G>A, p.Gly45Arg, and compared it with the only other variant at the same amino acid position of the connexin 26 protein (Cx26) reported to date: c.134G>A, p.Gly45Glu. Whereas both variants are associated with hearing loss and are dominantly inherited, p.Gly45Glu has been implicated in the rare fatal keratitis-ichthyosis-deafness (KID) syndrome, which results in cutaneous infections and septicemia with premature demise in the first year of life. In contrast, p...
2016: PeerJ
https://www.readbyqxmd.com/read/27759912/creation-of-an-international-registry-to-support-discovery-in-schwannomatosis
#18
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
https://www.readbyqxmd.com/read/27746081/missed-anterior-inferior-cerebellar-artery-aneurysm-mimicking-vestibular-neuritis-clues-to-prevent-misdiagnosis
#19
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
https://www.readbyqxmd.com/read/27738765/orphan-drug-policies-and-use-in-pediatric-nephrology
#20
EDITORIAL
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...
January 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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