35 results on '"Schussler E"'
Search Results
2. Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation
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Schussler E, Linkner RV, Levitt J, Mehta L, Martignetti JA, and Oishi K
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juvenile hyaline fibromatosis ,lcsh:Genetics ,lcsh:QH426-470 ,enteropathy ,hyaline fibromatosis syndrome ,infantile systemic hyalinosis ,ANTXR2 - Abstract
Edith Schussler,1 Rita V Linkner,2 Jacob Levitt,2 Lakshmi Mehta,3 John A Martignetti,1,3 Kimihiko Oishi1,3 1Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 2Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY, USA; 3Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Abstract: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder and an allelic form of hyaline fibromatosis syndrome that is caused by mutations in the ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2. Its main features include characteristic skin lesions, joint contractures, persistent diarrhea, and failure to thrive due to accumulation of hyaline material in multiple organs. The resulting severe malnutrition can cause death in early infancy. Because of its rarity and high fatality rate, timely diagnosis is difficult and ISH may be underdiagnosed. In this report, we describe a 10-month-old male with severe protein-losing enteropathy, skin lesions, and painful joint contractures, diagnosed with ISH based on skin histopathology and identification of a novel homozygous ANTRX2 mutation, c.1127_1128delTG (p.V376Gfs*14). While its clinical outcome is poor without curative treatment, establishing a diagnosis of ISH starting from clinical suspicion to molecular analysis is important for appropriate medical management and for risk and carrier assessment of family members. Keywords: infantile systemic hyalinosis, hyaline fibromatosis syndrome, juvenile hyaline fibromatosis, ANTXR2, enteropathy
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- 2018
3. P284 STAT 1 gain of function mutation treated with ruxolitinib
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Schussler, E., primary and Cunningham-Rundles, C., additional
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- 2017
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4. O043 Is tryptase elevation a marker of gaucher disease? A case report.
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Schussler, E., primary and Wang, J., additional
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- 2016
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5. P203 Thalidomide as an alternative therapy for steroid-refractory colitis in chronic granulomatous disease
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Ho, H., primary, Schussler, E., additional, Dubinsky, M., additional, and Cunningham-Rundles, C., additional
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- 2016
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6. Predicting Outcomes of Oral Food Challenges by Using the Allergen-Specific IgE-Total IgE Ratio
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Schussler, E., primary and Sicherer, S. H., additional
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- 2015
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7. Penicillin Skin Testing Is a Safe and Effective Tool for Evaluating Penicillin Allergy in the Pediatric Population
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Schussler, E., primary and Sicherer, S., additional
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- 2015
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8. Comparison of Dose and Volume Parameters for Prostate Brachytherapy in Prediction of Biochemical Failure
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Schussler, E., primary, Calligy, J., additional, and Stock, R.G., additional
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- 2009
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9. A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
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Ochoa S, Hsu AP, Oler AJ, Kumar D, Chauss D, van Hamburg JP, van Laar GG, Oikonomou V, Ganesan S, Ferré EMN, Schmitt MM, DiMaggio T, Barber P, Constantine GM, Rosen LB, Auwaerter PG, Gandhi B, Miller JL, Eisenberg R, Rubinstein A, Schussler E, Balliu E, Shashi V, Neth O, Olbrich P, Le KM, Mamia N, Laakso S, Nevalainen PI, Grönholm J, Seppänen MRJ, Boon L, Uzel G, Franco LM, Heller T, Winer KK, Ghosh R, Seifert BA, Walkiewicz M, Notarangelo LD, Zhou Q, Askentijevich I, Gahl W, Dalgard CL, Perera L, Afzali B, Tas SW, Holland SM, and Lionakis MS
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- Adolescent, Adult, Child, Female, Humans, Male, Base Sequence, Cell Line, Mutation genetics, Pedigree, RNA Splicing genetics, AIRE Protein, Exons genetics, Introns genetics, Oligonucleotides, Antisense, Polyendocrinopathies, Autoimmune genetics, Transcription Factors genetics, Transcription Factors metabolism
- Abstract
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a life-threatening monogenic autoimmune disorder primarily caused by biallelic deleterious variants in the autoimmune regulator ( AIRE ) gene. We prospectively evaluated 104 patients with clinically diagnosed APECED syndrome and identified 17 patients (16%) from 14 kindreds lacking biallelic AIRE variants in exons or flanking intronic regions; 15 had Puerto Rican ancestry. Through whole-genome sequencing, we identified a deep intronic AIRE variant (c.1504-818 G>A) cosegregating with the disease in all 17 patients. We developed a culture system of AIRE -expressing primary patient monocyte-derived dendritic cells and demonstrated that c.1504-818 G>A creates a cryptic splice site and activates inclusion of a 109-base pair frame-shifting pseudoexon. We also found low-level AIRE expression in patient-derived lymphoblastoid cell lines (LCLs) and confirmed pseudoexon inclusion in independent extrathymic AIRE -expressing cell lines. Through protein modeling and transcriptomic analyses of AIRE -transfected human embryonic kidney 293 and thymic epithelial cell 4D6 cells, we showed that this variant alters the carboxyl terminus of the AIRE protein, abrogating its function. Last, we developed an antisense oligonucleotide (ASO) that reversed pseudoexon inclusion and restored the normal AIRE transcript sequence in LCLs. Thus, our findings revealed c.1504-818 G>A as a founder APECED-causing AIRE variant in the Puerto Rican population and uncovered pseudoexon inclusion as an ASO-reversible genetic mechanism underlying APECED.
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- 2024
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10. Patient satisfaction among Saudi academic hospitals: a systematic review.
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Alasiri AA, Alotaibi SA, and Schussler E
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- Saudi Arabia, Humans, Hospitals, University, Academic Medical Centers, Patient Satisfaction statistics & numerical data
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Purpose: To systematically review the patient's satisfaction (PS) levels within academic hospitals in Saudi Arabia from January 2012 to the end of October 2022., Data Sources: Articles were gathered from PubMed, ProQuest, Google Scholar and Web of Science., Study Selection/data Extraction: This review identified studies that assessed PS in Saudi Arabian university hospitals. Articles published before January 2012, as well as commentary letters, conference papers, theses and dissertations, were excluded. The study employed the five domains of PS as outlined by Boquiren et al . Two independent reviewers independently identified qualifying studies, used the Joanna Briggs Institute tools to evaluate the quality of each study and extracted essential data from each article., Results: Out of the 327 studies identified during the search phase, 11 met the project's objectives and criteria. Six studies reported overall PS rates ranging from 78% to 95.2%, with only one study indicating lower PS levels in emergency departments. Most studies demonstrated that technical skill is the primary domain influencing PS in academic hospitals., Conclusion: There is a need for further investigation to explore the factors influencing PS using standardised survey instruments suitable for Saudi culture. Contradictory results regarding PS are clearly evident in the literature; therefore, it is advisable to standardise the assessment process to reduce discrepancies within the academic hospital setting in Saudi Arabia., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2024
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11. Models of Video Feedback for Youth Athletes Performing an American Football Tackle.
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Schussler E, Jagacinski RJ, Chaudhari A, Buford JA, and Onate JA
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- Male, Female, Humans, Adolescent, Child, Feedback, Athletes, Football injuries
- Abstract
Context: Video feedback is an expeditious method for improving athlete safety when performing activities with an inherent risk of injury. Providing appropriate and validated feedback during tackling training in American football may be a mechanism for athletes to learn safe tackling performance., Objective: To determine the effect of video feedback in the instruction of tackling form., Design: Controlled laboratory study., Setting: Laboratory., Patients or Other Participants: A total of 32 youth football athletes (28 boys, 4 girls; age = 11.8 ± 0.8 years) participated in 1 day of training. Of those, 14 participants completed 2 additional days of training and a 48-hour retention and transfer test., Intervention(s): Video feedback using self as model, expert as model, combined self and expert model, and oral feedback to promote safe tackling performance in a laboratory environment., Main Outcome Measure(s): Shoulder extension, cervical extension, trunk angle, pelvis height, and step length by training block and over time., Results: For the 1-day training group, main effects for time were observed for shoulder extension (P < .01), cervical extension (P = .01), pelvis height (P < .01), and step length (P < .01), with better performance for pelvis height and step length after combined feedback. For the 3-day training group, main effects of time were identified in pelvis height (P < .01) and step length (P < .01), with combined feedback showing better performance than other methods in shoulder extension and pelvis height. Combined feedback resulted in better performance compared with its component parts and oral feedback alone. In the combined model, participants viewed both their performance and the expert model, enabling them to see the difference between current and required performance., Conclusions: Combined feedback may be superior to other forms of feedback in improving movement performance. This effect can be generalized across disciplines that provide instruction and feedback in movement., (© by the National Athletic Trainers’ Association, Inc.)
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- 2024
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12. The 50 Most Cited Papers on Rugby since 2000 Reveal a Focus Primarily on Strength and Conditioning in Elite Male Players.
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Hunzinger KJ and Schussler E
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We sought to conduct a bibliometric analysis and review of the most cited publications relating to rugby since 2000 in order to identify topics of interest and those that warrant further investigations. Clarivate Web of Science database was used to perform a literature search using the search term "rugby." The top 200 papers by citation count were extracted and reviewed for the inclusion criteria: all subjects were rugby players. The top 50 manuscripts were included for analysis of author, publication year, country of lead authors, institution, journal name and impact factor, topic, participant sex, and level of rugby. The total number of citations was 9,071 (average of 181.4 citations/article), with an average journal impact factor of 7.21; the top article was cited 407 times at the time of analysis. The most frequent publication was the Journal of Strength and Conditioning Research (26%), followed by the British Journal of Sports Medicine (20%) and the Journal of Sports Sciences (18%). Forty-eight (96%) of the manuscripts contained only male subjects, with 1 manuscript including females only and 1 manuscript containing mixed sexes. Thirty-three (66%) of the manuscripts focused on professional rugby players, with the next highest player group being mixed levels (10%). Twenty-eight (56%) concentrated on topics regarding strength and conditioning, 11 (22%) on injury, and 4 (8%) on physiology. Despite rugby being one of the most injurious sports and community players representing the largest component of the player pool, most of the top-cited rugby articles are cohort studies of professional male athletes focused on performance and strength and conditioning, noting the bias in research towards socially relevant topics that may not impact the majority of stakeholders and long-term health of rugby athletes. These findings highlight the need for further research among women and community athletes and on topics in injury prevention., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2023 Katherine J. Hunzinger and Eric Schussler.)
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- 2023
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13. The Effect of Concussion History on Lower Extremity Injury Risk in College Athletes: A Systematic Review and Meta-Analysis.
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McCann R, Schussler E, Martinez J, and Ramirez V
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Introduction: Collegiate athletes who suffer a concussion may possess prolonged impairments even after clearance for return-to-participation, which may place them at an increased risk of lower extremity injury., Objective: To conduct a systematic review and meta-analysis of studies examining risk of lower extremity musculoskeletal injury following a concussion in collegiate athletes., Methods: A literature search was performed using the following databases: PubMed, CINAHL, SPORTDiscus. The following search terms were used to identify relevant articles, ["concussion" OR "brain injury" OR "mild traumatic brain injury" OR "mTBI"] AND ["lower extremity injury" OR "musculoskeletal injury"]. Articles were included if they were published between January 2000 and July 2021 and examined collegiate athletes' risk of sustaining a lower extremity musculoskeletal injury following a concussion. Methodological quality of included studies was performed with a modified Downs and Black Checklist. The primary outcome of interest was the risk of sustaining a lower extremity musculoskeletal injury following a concussion. A random effects meta-analysis was conducted in which a summative relative risk (RR) for sustaining a lower extremity injury in athletes with and without a history of concussion was calculated., Results: Seven studies met the eligibility criteria to be included in the systematic review. There were 348 athletes in the concussion group and 482 control athletes in the included studies. Most of the studies were of good or excellent quality. Five of the seven studies were able to be included in the meta-analysis. College athletes who suffered a concussion possessed a 58% greater risk of sustaining a lower extremity musculoskeletal injury than those who did not have a history of a concussion (RR = 1.58[1.30, 1.93])., Conclusions: Lower extremity injury risk is potentially increased in college athletes following a concussion compared to those without a history of a concussion. Further research is needed to investigate the mechanism behind this increased risk. Clinical assessments throughout the concussion return-to-play protocol may need to be improved in order to detect lingering impairments caused by concussions., Level of Evidence: 1., Competing Interests: The authors report no conflicts of interest.
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- 2022
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14. A Systematic Review of Center of Mass as a Measure of Dynamic Postural Control Following Concussion.
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Patejak S, Forrest J, Harting E, Sisk M, and Schussler E
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Background: The incidence of sports-related concussion in the US is between 1.6-3.8 million annually. Identification of ongoing impairment post-concussion continues to be challenging, as research indicates many patients are cleared for return to activity while still suffering subclinical impairment of function. Purpose: To identify and review the current literature on the use of center of mass (COM) during gait as a potential indicator variable after concussive injury. Study Design: Systematic Review., Methods: A Pubmed search was undertaken utilizing search terms involving gait performance and concussion. Study inclusion criteria included: (1) COM used as a variable in data analysis, (2) study population included individuals diagnosed with concussion, (3) postural control was evaluated throughout the recovery process. Articles were excluded if they were systematic reviews, unedited manuscripts, meta-analyses, or were more than 15 years old., Results: Search of the PubMed database identified six articles which matched the determined criteria. The average STROBE score was 26.5/34 (range from 23-30). The areas that had the poorest scoring were bias, study size, statistical methods, participants, descriptive data, and main results. Results of the review indicate that COM displacement was higher in concussion groups with a sufficiently taxing task, such as a dual task paradigm., Conclusion: Center of mass measures during gait may be an indicator of ongoing concussive injury involvement after clinical indications have subsided., Level of Evidence: 2a., Competing Interests: None of the authors have a conflict of interest to report.
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- 2021
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15. Chronic impairments of static postural stability associated with history of concussion.
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Reilly N, Prebor J, Moxey J, and Schussler E
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- Adult, Attention, Humans, Postural Balance, Standing Position, Brain Concussion complications
- Abstract
Postural stability deficits are commonly observed in cases of concussion. However, the objective duration in which impairments of standing postural stability remain following a concussion is often inconclusive. The present study was conducted to determine if prior history of concussion is associated with deficits in postural stability beyond the clinical determination of recovery. It was hypothesized that concussion history would be associated with decreases in static stability compared to individuals that have never sustained a concussion. Fifty-four healthy adults were recruited based on whether they reported sustaining one or more prior concussions (n = 27) or no history of concussion (n = 27). Participants were instructed to stand on a force platform to track center-of-pressure (CoP) during standing for thirty seconds under four conditions based on stance and number of tasks: (1) bipedal, single-task, (2) bipedal, dual-task, (3) unipedal, single-task, and (4) unipedal, dual-task. Results revealed that individuals with a history of concussion demonstrate significantly reduced postural stability under dual-task conditions as evidenced by increases in average displacements and elliptical area of postural sway as well as reductions in CoP sample entropy. However, there were no significant differences in CoP displacement or elliptical area between groups under single task conditions. Overall, these findings indicate that concussion is associated with impairments of maintaining standing postural stability that remain evident approximately 7 years following clinical resolution of the initial injury. The exacerbation of these impairments under dual-task conditions indicate that concussion can result in a reduced capacity to allocate proper attention resources to multiple concurrent objectives.
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- 2020
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16. Outcomes of 88 infant food challenges conducted in the allergy office.
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Chan A, Feuille E, and Schussler E
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- Humans, Infant, Retrospective Studies, Diet, Food Hypersensitivity diagnosis
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- 2020
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17. A Difficult Case of Mastocytic Colitis with Elevated Tryptase.
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Schussler E and Lieberman P
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- Humans, Tryptases, Colitis, Mast Cells
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- 2020
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18. Rehabilitation Utilizing Controlled Aerobic Activity in Patients With a Concussion: A Critically Appraised Topic.
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Prince J, Schussler E, and McCann R
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- Humans, Randomized Controlled Trials as Topic, Athletic Injuries rehabilitation, Brain Concussion rehabilitation, Exercise Therapy methods
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Clinical Scenario: A sport-related concussion is a common injury to the brain that may cause a variety of symptoms ranging in duration and severity. The mainstay of treatment for concussion has been rest, followed by a stepwise return to activity. This recovery process may be lengthy when symptoms persist. Aerobic exercise conducted at subsymptom and submaximal intensities has been proposed as a potential intervention for symptoms following a concussion. Therefore, the purpose of this critically appraised topic is to examine the safety of varying aerobic exercise intensities in patients with a concussion. Focused Clinical Question: Are subsymptom and submaximal exercise programs safe when implemented in a population with a symptomatic sports-related concussion when compared with traditional rest? Summary of Key Findings: Four randomized controlled trials were included for critical appraisal. The 4 studies investigated supervised and controlled aerobic exercise as early as within 1 week of with a concussion; all studies conclude that exercise is safe and may be of benefit to individuals with a concussion. Two studies support the use of submaximal exercise as a therapeutic intervention for adolescents with persistent concussion symptoms. Clinical Bottom Line: The authors conclude that controlled exercise performed within the symptom or exertion threshold of patients with concussion is safe compared with rest. It was noted that symptom changes may occur; however, the changes did not have a negative impact on long-term recovery. This research should ease concerns about prescribing physical activity when an athlete with concussion is still experiencing lingering symptoms. While specific parameters of the activity performed have not been described in detail, the individualization of each exercise program was stressed. Strength of Recommendation: Grade A.
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- 2020
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19. Immunologic Evaluation of Pediatric Chronic and Recurrent Acute Rhinosinusitis.
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Li C, Peng Hwa T, Schussler E, and Pearlman AN
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- Acute Disease, Adolescent, Child, Child, Preschool, Chronic Disease, Endoscopy, Female, Humans, Infant, Male, Pilot Projects, Recurrence, Retrospective Studies, Rhinitis diagnosis, Sinusitis diagnosis, Algorithms, Antibodies, Anti-Idiotypic immunology, Immunity, Innate, Immunoglobulins immunology, Rhinitis immunology, Sinusitis immunology
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- 2020
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20. Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.
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Forbes LR, Vogel TP, Cooper MA, Castro-Wagner J, Schussler E, Weinacht KG, Plant AS, Su HC, Allenspach EJ, Slatter M, Abinun M, Lilic D, Cunningham-Rundles C, Eckstein O, Olbrich P, Guillerman RP, Patel NC, Demirdag YY, Zerbe C, Freeman AF, Holland SM, Szabolcs P, Gennery A, Torgerson TR, Milner JD, and Leiding JW
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- Adolescent, Adult, Child, Female, Gain of Function Mutation, Humans, Immunologic Deficiency Syndromes drug therapy, Male, Nitriles, Piperidines therapeutic use, Protein Kinase Inhibitors therapeutic use, Pyrazoles therapeutic use, Pyrimidines therapeutic use, Pyrroles therapeutic use, Treatment Outcome, Immunologic Deficiency Syndromes genetics, Janus Kinases antagonists & inhibitors, STAT1 Transcription Factor genetics, STAT3 Transcription Factor genetics
- Published
- 2018
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21. Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
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Vargas-Hernández A, Mace EM, Zimmerman O, Zerbe CS, Freeman AF, Rosenzweig S, Leiding JW, Torgerson T, Altman MC, Schussler E, Cunningham-Rundles C, Chinn IK, Carisey AF, Hanson IC, Rider NL, Holland SM, Orange JS, and Forbes LR
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- Adolescent, Adult, Child, Child, Preschool, Female, Gain of Function Mutation, Humans, Immunologic Deficiency Syndromes drug therapy, Immunologic Deficiency Syndromes genetics, Janus Kinases antagonists & inhibitors, Killer Cells, Natural immunology, Male, Nitriles, Pyrimidines, Immunologic Deficiency Syndromes immunology, Killer Cells, Natural drug effects, Pyrazoles pharmacology, STAT1 Transcription Factor genetics
- Abstract
Background: Natural killer (NK) cells are critical innate effector cells whose development is dependent on the Janus kinase-signal transducer and activator of transcription (STAT) pathway. NK cell deficiency can result in severe or refractory viral infections. Patients with STAT1 gain-of-function (GOF) mutations have increased viral susceptibility., Objective: We sought to investigate NK cell function in patients with STAT1 GOF mutations., Methods: NK cell phenotype and function were determined in 16 patients with STAT1 GOF mutations. NK cell lines expressing patients' mutations were generated with clustered regularly interspaced short palindromic repeats (CRISPR-Cas9)-mediated gene editing. NK cells from patients with STAT1 GOF mutations were treated in vitro with ruxolitinib., Results: Peripheral blood NK cells from patients with STAT1 GOF mutations had impaired terminal maturation. Specifically, patients with STAT1 GOF mutations have immature CD56
dim NK cells with decreased expression of CD16, perforin, CD57, and impaired cytolytic function. STAT1 phosphorylation was increased, but STAT5 was aberrantly phosphorylated in response to IL-2 stimulation. Upstream inhibition of STAT1 signaling with the small-molecule Janus kinase 1/2 inhibitor ruxolitinib in vitro and in vivo restored perforin expression in CD56dim NK cells and partially restored NK cell cytotoxic function., Conclusions: Properly regulated STAT1 signaling is critical for NK cell maturation and function. Modulation of increased STAT1 phosphorylation with ruxolitinib is an important option for therapeutic intervention in patients with STAT1 GOF mutations., (Copyright © 2017 American Academy of Allergy, Asthma & Immunology. All rights reserved.)- Published
- 2018
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22. THE EFFECT OF TACKLING TRAINING ON HEAD ACCELERATIONS IN YOUTH AMERICAN FOOTBALL.
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Schussler E, Jagacinski RJ, White SE, Chaudhari AM, Buford JA, and Onate JA
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Background: Many organizations have introduced frameworks to reduce the incidence of football related concussions through proper equipment fitting, coach education, and alteration of tackling technique., Purpose: The purpose of this study was to examine the effects of training in a vertical, head up tackling style on the number of head accelerations experienced while tackling in a controlled laboratory situation. The authors hypothesized that training in a head up tackling technique would reduce the severity of head acceleration experienced by participants., Design: Controlled Laboratory Study., Methods: Twenty-four participants (11.5 ± 0.6 years old, 60.5 ± 2.2 in, 110 ± 18.4 lbs.) with previous playing experience completed a one-day training session on tackling technique utilizing a tackling dummy. A subgroup of these participants completed an additional two days of training with a 48 hour retention test. Head accelerations were analyzed at baseline and end of training. Feedback consisted of verbal feedback utilizing the Qualitative Youth Tackling Scale (QYTS) and video tackling playback., Results: A significant reduction in the number of peak linear head accelerations over 10 g and peak rotational head accelerations over 1885 deg/s
2 were found in dummy tackling after training in both the one day and three day training regimens. A significant change in QYTS tackling form score was found between pretest and post-test (p = 0.004). Participants with larger steps had a 2.28, 4.42 and 4.14 increased odds ratio of sustaining head accelerations over 10, 15 and 20 g respectively., Conclusions: Training in a vertical, head up tackling style decreased the number of head accelerations over threshold values sustained while tackling; decreased step length may be the driving factor in the effectiveness of this tackling form., Level of Evidence: Level 3b.- Published
- 2018
23. INTER-RATER AGREEMENT AND VALIDITY OF A TACKLING PERFORMANCE ASSESSMENT SCALE IN YOUTH AMERICAN FOOTBALL.
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Schussler E, Jagacinski RJ, White SE, Chaudhari AM, Buford JA, and Onate JA
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Background: Long term neurologic injury and concussion have been identified as risks from participation in American football. Altering tackling form has been recommended to reduce the risk of neurologic injury caused by head accelerations when tackling. The purpose of this research is to determine the inter-rater agreement and validity of the Qualitative Youth Tackling System (QYTS), a six-item feedback scale to correct tackling form, when utilized by novice and expert raters., Hypothesis: Experienced raters will have higher levels of agreement with each other and with motion capture when compared to novice raters., Methods: Both novice and experienced raters viewed video of youth athletes (ages 9-13) tackling a dummy in a laboratory setting along. The raters identified successful performance according to a binary rating scale for each component. Analysis of both the raters' agreement with each other and with an objective motion capture measure were completed., Results: Fliess' Kappa measures between all raters were found to be moderate for head placement (k=.48), fair for cervical extension (k=.38), trunk inclination (k=.37), shoulder extension (k=.27) and step length (k=.29), and there was no agreement for pelvic height (k=.-16). When compared to the dichotomized validation measures of each of the five components provided by the motion capture system the average Cohen's Kappa agreement was substantial for pelvic height ( k =.63), fair for step length ( k =.34), cervical extension ( k =.40), trunk inclination ( k =.35), and slight for shoulder extension ( k =.16). The experienced raters outperformed the novice raters in all categories., Conclusion: The results of this study indicate that skilled raters are better able to identify the movement patterns included in the QYTS when compared to a validation measure as well have higher rates of inter-rater agreement than novice raters., Level of Evidence: 3b.
- Published
- 2018
24. Persistent tryptase elevation in a patient with Gaucher disease.
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Schussler E, Yang A, Lyons JJ, Milner JD, and Wang J
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- Humans, Infant, Male, Gaucher Disease blood, Tryptases blood
- Published
- 2018
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25. Normative Functional Performance Values in High School Athletes: The Functional Pre-Participation Evaluation Project.
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Onate JA, Starkel C, Clifton DR, Best TM, Borchers J, Chaudhari A, Comstock RD, Cortes N, Grooms DR, Hertel J, Hewett TE, Miller MM, Pan X, Schussler E, and Van Lunen BL
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- Adolescent, Athletic Injuries epidemiology, Athletic Injuries prevention & control, Cross-Sectional Studies, Female, Humans, Incidence, Male, Musculoskeletal Physiological Phenomena, Sex Factors, United States epidemiology, Young Adult, Athletes, Athletic Injuries physiopathology, Athletic Performance physiology, Physical Conditioning, Human methods, Risk Assessment, Schools
- Abstract
Context: The fourth edition of the Preparticipation Physical Evaluation recommends functional testing for the musculoskeletal portion of the examination; however, normative data across sex and grade level are limited. Establishing normative data can provide clinicians reference points with which to compare their patients, potentially aiding in the development of future injury-risk assessments and injury-mitigation programs., Objective: To establish normative functional performance and limb-symmetry data for high school-aged male and female athletes in the United States., Design: Cross-sectional study., Setting: Athletic training facilities and gymnasiums across the United States., Patients or Other Participants: A total of 3951 male and female athletes who participated on high school-sponsored basketball, football, lacrosse, or soccer teams enrolled in this nationwide study., Main Outcome Measure(s): Functional performance testing consisted of 3 evaluations. Ankle-joint range of motion, balance, and lower extremity muscular power and landing control were assessed via the weight-bearing ankle-dorsiflexion-lunge, single-legged anterior-reach, and anterior single-legged hop-for-distance (SLHOP) tests, respectively. We used 2-way analyses of variance and χ
2 analyses to examine the effects of sex and grade level on ankle-dorsiflexion-lunge, single-legged anterior-reach, and SLHOP test performance and symmetry., Results: The SLHOP performance differed between sexes (males = 187.8% ± 33.1% of limb length, females = 157.5% ± 27.8% of limb length; t = 30.3, P < .001). A Cohen d value of 0.97 indicated a large effect of sex on SLHOP performance. We observed differences for SLHOP and ankle-dorsiflexion-lunge performance among grade levels, but these differences were not clinically meaningful., Conclusions: We demonstrated differences in normative data for lower extremity functional performance during preparticipation physical evaluations across sex and grade levels. The results of this study will allow clinicians to compare sex- and grade-specific functional performances and implement approaches for preventing musculoskeletal injuries in high school-aged athletes.- Published
- 2018
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26. Workgroup Report by the Joint Task Force Involving American Academy of Allergy, Asthma & Immunology (AAAAI); Food Allergy, Anaphylaxis, Dermatology and Drug Allergy (FADDA) (Adverse Reactions to Foods Committee and Adverse Reactions to Drugs, Biologicals, and Latex Committee); and the Centers for Disease Control and Prevention Botulism Clinical Treatment Guidelines Workgroup-Allergic Reactions to Botulinum Antitoxin: A Systematic Review.
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Schussler E, Sobel J, Hsu J, Yu P, Meaney-Delman D, Grammer LC 3rd, and Nowak-Wegrzyn A
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- Anaphylaxis diagnosis, Botulinum Antitoxin therapeutic use, Humans, Immunologic Factors therapeutic use, Practice Guidelines as Topic, Skin Tests, Anaphylaxis chemically induced, Botulinum Antitoxin adverse effects, Botulism drug therapy, Immunologic Factors adverse effects
- Abstract
Background: Naturally occurring botulism is rare, but a large number of cases could result from unintentional or intentional contamination of a commercial food. Despeciated, equine-derived, heptavalent botulinum antitoxin (HBAT) is licensed in the United States. Timely treatment reduces morbidity and mortality, but concerns that botulinum antitoxin can induce anaphylaxis exist. We sought to quantify the allergy risk of botulinum antitoxin treatment and the usefulness of skin testing to assess this risk., Methods: We conducted a systematic review of (1) allergic reactions to botulinum antitoxin and (2) the predictive value of skin testing (ST) before botulinum antitoxin administration. We searched 5 scientific literature databases, reviewed articles' references, and obtained data from the HBAT manufacturer and from the Centers for Disease Control and Prevention. Anaphylaxis incidence was determined for HBAT and previously employed botulinum antitoxins. We calculated the positive predictive value (PPV) and negative predictive value (NPV) of ST for anaphylaxis related to HBAT and other botulinum antitoxins., Results: Seven articles were included. Anaphylaxis incidence was 1.64% (5/305 patients) for HBAT and 1.16% (8/687 patients) for all other botulinum antitoxins (relative risk, 1.41 [95% confidence interval, .47-4.27]; P = .5). Observed values for both PPV and NPV for HBAT-ST (33 patients) were 100%. Observed PPVs and NPVs of ST for other botulinum antitoxins (302 patients) were 0-56% and 50%-100%, respectively. There were no reports of fatal anaphylaxis., Conclusions: Considering the <2 % rate of anaphylaxis, fatal outcomes, modest predictive value of ST, resource requirements for ST, and the benefits of early treatment, data do not support delaying HBAT administration to perform ST in a mass botulinum toxin exposure. Anaphylactic reactions may occur among 1%-2% of botulinum antitoxin recipients and will require epinephrine and antihistamine treatment and, possibly, intensive care., (Published by Oxford University Press for the Infectious Diseases Society of America 2017. This work is written by (a) US Government employee(s) and is in the public domain in the US.)
- Published
- 2017
- Full Text
- View/download PDF
27. A Vision and Change Reform of Introductory Biology Shifts Faculty Perceptions and Use of Active Learning.
- Author
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Auerbach AJ and Schussler E
- Subjects
- Culture, Humans, Biology education, Faculty, Perception, Problem-Based Learning
- Abstract
Increasing faculty use of active-learning (AL) pedagogies in college classrooms is a persistent challenge in biology education. A large research-intensive university implemented changes to its biology majors' two-course introductory sequence as outlined by the Vision and Change in Undergraduate Biology Education final report. One goal of the curricular reform was to integrate core biological concepts and competencies into the courses using AL pedagogical approaches. The purpose of this study was to observe the instructional practices used by faculty ( N = 10) throughout the 3-year process of reform to determine whether the use of AL strategies (including student collaboration) increased, given that it can maximize student learning gains. Instructors participated in yearly interviews to track any change in their perceptions of AL instruction. Instructors increased their average use of AL by 12% (group AL by 8%) of total class time throughout the 3-year study. Interviews revealed that instructors shifted their definitions of AL and talked more about how to assess student learning over the 3 years of the project. Collaboration, feedback, and time may have been important factors in the reform, suggesting that small shifts over time can accumulate into real change in the classroom., (© 2017 A. J. Auerbach and E. Schussler. CBE—Life Sciences Education © 2017 The American Society for Cell Biology. This article is distributed by The American Society for Cell Biology under license from the author(s). It is available to the public under an Attribution–Noncommercial–Share Alike 3.0 Unported Creative Commons License (http://creativecommons.org/licenses/by-nc-sa/3.0).)
- Published
- 2017
- Full Text
- View/download PDF
28. Dietary isoflavone supplementation for food allergy: A pilot study.
- Author
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Masilamani M, Chang LM, Kamalakannan M, Schussler E, Rassbach W, and Sampson HA
- Subjects
- Adolescent, Adult, Allergens immunology, Arachis immunology, Basophil Degranulation Test, Cells, Cultured, Dietary Supplements, Female, Food Hypersensitivity diagnosis, Humans, Male, Milk Proteins immunology, Pilot Projects, Skin Tests, Glycine max immunology, Young Adult, Food Hypersensitivity diet therapy, Genistein therapeutic use, Isoflavones therapeutic use
- Published
- 2017
- Full Text
- View/download PDF
29. COMPARISON OF A HEAD MOUNTED IMPACT MEASUREMENT DEVICE TO THE HYBRID III ANTHROPOMORPHIC TESTING DEVICE IN A CONTROLLED LABORATORY SETTING.
- Author
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Schussler E, Stark D, Bolte JH, Kang YS, and Onate JA
- Abstract
Background: Reports estimate that 1.6 to 3.8 million cases of concussion occur in sports and recreation each year in the United States. Despite continued efforts to reduce the occurrence of concussion, the rate of diagnosis continues to increase. The mechanisms of concussion are thought to involve linear and rotational head accelerations and velocities. One method of quantifying the kinematics experienced during sport participation is to place measurement devices into the athlete's helmet or directly on the athlete's head., Purpose: The purpose of this research to determine the accuracy of a head mounted device for measuring the head accelerations experienced by the wearer. This will be accomplished by identifying the error in Peak Linear Acceleration (PLA), Peak Rotational Acceleration (PRA) and Peak Rotational Velocity (PRV) of the device., Study Design: Laboratory study., Methods: A helmeted Hybrid III 50th percentile male headform was impacted via a pneumatic ram from the front, side, rear, front oblique and rear oblique at speeds from 1.5 to 5 m/s. The X2 Biosystems xPatch® (Seattle, WA) sensor was placed on the headform's right side at the approximate location of the mastoid process. Measures of PLA, PRA, PRV from the xPatch ® and Hybrid III were analyzed for Root Mean Square Error (RMSE), and Absolute and Relative Error (AE, RE)., Result: Seventy-six impacts were analyzed. All measures of correlation, fixed through the origin, were found to be strong: PLA R
2 =0.967 p<0.01, PRA R2 =0.933 p<0.01, PRV R2 =0.999 p<0.00. PLA RMSE was 34%, RE 31.0%±14.0, and AE 31.1%±13.7. PRA RMSE was 23.4%, RE -6.7 ± 22.4 and AE 18.9%±13.8. PRV RMSE was 2.2%, RE 0.1 ± 2.2, and AE 1.8 ± 1.3., Conclusion: Without including corrections for effect of skin artifact, the xPatch® produces measurements highly correlated with the gold standard yet above the average error of testing devices in both PLA and PRA, but a low error in PRV. PLA measures from the xPatch® system demonstrated a high level of correlation with the PLA data from the Hybrid III mounted data collection system., Level of Evidence: 3.- Published
- 2017
30. Efficacy of House Dust Mite Sublingual Immunotherapy in Adults with Allergic Asthma.
- Author
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Schussler E and Cox LS
- Published
- 2017
- Full Text
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31. Epidemiology of Knee Sprains in Youth, High School, and Collegiate American Football Players.
- Author
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Clifton DR, Onate JA, Schussler E, Djoko A, Dompier TP, and Kerr ZY
- Subjects
- Adolescent, Athletes statistics & numerical data, Humans, Incidence, Male, Needs Assessment, Seasons, United States epidemiology, Universities statistics & numerical data, Young Adult, Athletic Injuries epidemiology, Athletic Injuries etiology, Athletic Injuries prevention & control, Football injuries, Knee Injuries epidemiology, Knee Injuries etiology, Knee Injuries prevention & control, Sprains and Strains epidemiology, Sprains and Strains etiology, Sprains and Strains prevention & control
- Abstract
Context: Variations in knee-sprain incidence among competition levels are unclear but may help inform prevention strategies in American football players., Objective: To describe the epidemiology of knee sprains in youth, high school, and collegiate football players., Design: Descriptive epidemiology study., Setting: Injury and athlete-exposure (AE) data were collected from 3 injury-surveillance programs at the youth, high school, and collegiate competition levels., Patients or Other Participants: Data from 310 youth, 184 high school, and 71 collegiate football team-seasons were collected during the 2012 through 2014 seasons., Main Outcome Measure(s): Knee-sprain rates and risks were calculated for each competition level. Injury rate ratios (IRRs) and risk ratios (RRs) compared knee-sprain rates by competition level. Injury proportion ratios (IPRs) compared differences in surgery needs, recurrence, injury mechanism, and injury activity by competition level., Results: Knee-sprain rates in youth, high school, and collegiate football were 0.16/1000 AEs, 0.25/1000 AEs, and 0.69/1000 AEs, respectively. Knee-sprain rates increased as the competition level increased (high school versus youth: IRR = 1.60; 95% confidence interval [CI] = 1.12, 2.30; collegiate versus high school: IRR = 2.73; 95% CI = 2.38, 3.96). Knee-sprain risk was highest in collegiate (4.3%), followed by high school (2.0%) and youth (0.5%) athletes. Knee-sprain risk increased as the competition level increased (high school versus youth: RR = 3.73; 95% CI = 2.60, 5.34; collegiate versus high school: RR = 2.14; 95% CI = 1.83, 2.51). Collegiate football had the lowest proportion of knee sprains that were noncontact injuries (collegiate versus youth: IPR = 0.54; 95% CI = 0.31, 0.95; collegiate versus high school: IPR = 0.59; 95% CI = 0.44, 0.79) and the lowest proportion that occurred while being tackled (collegiate versus youth: IPR = 0.44; 95% CI = 0.26, 0.76; collegiate versus high school: IPR = 0.71; 95% CI = 0.51, 0.98)., Conclusions: Knee-sprain incidence was highest in collegiate football. However, level-specific variations in the distributions of knee sprains by injury activity may highlight the need to develop level-specific policies and prevention strategies that ensure safe sports play.
- Published
- 2017
- Full Text
- View/download PDF
32. Lung Disease in Primary Antibody Deficiencies.
- Author
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Schussler E, Beasley MB, and Maglione PJ
- Subjects
- Humans, Immunoglobulins immunology, Immunologic Deficiency Syndromes immunology, Lung Diseases immunology, Immunologic Deficiency Syndromes complications, Lung Diseases etiology
- Abstract
Primary antibody deficiencies (PADs) are the most common form of primary immunodeficiency and predispose to severe and recurrent pulmonary infections, which can result in chronic lung disease including bronchiectasis. Chronic lung disease is among the most common complications of PAD and a significant source of morbidity and mortality for these patients. However, the development of lung disease in PAD may not be solely the result of recurrent bacterial infection or a consequence of bronchiectasis. Recent characterization of monogenic immune dysregulation disorders and more extensive study of common variable immunodeficiency have demonstrated that interstitial lung disease (ILD) in PAD can result from generalized immune dysregulation and frequently occurs in the absence of pneumonia history or bronchiectasis. This distinction between bronchiectasis and ILD has important consequences in the evaluation and management of lung disease in PAD. For example, treatment of ILD in PAD typically uses immunomodulatory approaches in addition to immunoglobulin replacement and antibiotic prophylaxis, which are the stalwarts of bronchiectasis management in these patients. Although all antibody-deficient patients are at risk of developing bronchiectasis, ILD occurs in some forms of PAD much more commonly than in others, suggesting that distinct but poorly understood immunological factors underlie the development of this complication. Importantly, ILD can have earlier onset and may worsen survival more than bronchiectasis. Further efforts to understand the pathogenesis of lung disease in PAD will provide vital information for the most effective methods of diagnosis, surveillance, and treatment of these patients., (Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2016
- Full Text
- View/download PDF
33. Allergen Component Testing in the Diagnosis of Food Allergy.
- Author
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Schussler E and Kattan J
- Subjects
- Animals, Food Hypersensitivity epidemiology, Humans, Immunoglobulin E immunology, Prevalence, Skin Tests methods, Allergens immunology, Food Hypersensitivity diagnosis, Food Hypersensitivity immunology
- Abstract
IgE-mediated food allergies are an important public health problem, affecting 5 % of adults and 8 % of children, with numerous studies indicating that the prevalence is increasing. Food allergic reactions can range in severity from mild to severe and life threatening. Accurate diagnosis of food allergy is necessary not only to provide appropriate and potentially life-saving preventive measures but also to prevent unwarranted dietary restrictions. The diagnosis of food allergy has traditionally been based on clinical history and food specific IgE (sIgE) testing, including skin prick testing (SPT), serum tests, or both. These tests tend to be extremely sensitive, but positive test results to foods that are tolerated are common. Studies of allergen component-resolved diagnostics (CRD) show that adjuvant use of this modality may provide a more accurate assessment in the diagnosis of food allergy, though the reported benefits are questionable for a number of major allergens. Furthermore, diagnostic cutoff values have been difficult to determine for allergens where component testing has been demonstrated to be beneficial.
- Published
- 2015
- Full Text
- View/download PDF
34. Changes in cell structure during the formation of root aerenchyma inSAGITTARIA LANCIFOLIA (Alismataceae).
- Author
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Schussler EE and Longstreth DJ
- Abstract
In many wetland species, root aerenchyma is produced by the predictable collapse of root cortex cells, indicating a programmed cell death (PCD). The objective of this study was to characterize the cellular changes that accompany this PCD in the marsh species Sagittaria lancifolia. Structural changes in membranes and organelles were examined during development of root cortex cells to compare with previous examples of PCD. The organization of cortical microtubule (CMT) arrays in root cells from S. lancifolia was also evaluated as a possible predictor of cell lysis. Nuclear fragmentation and condensation were the earliest changes observed in cells undergoing lysis. Breakdown of the tonoplast and other organelles and disruption of the plasma membrane followed. After loss of cytoplasm, cells collapsed to form gas spaces. These results were compared to collapse of root cortical cells of Zea mays and Oryza sativa during aerenchyma development. Changes in the appearance of the cytoplasm of all three species were similar at later stages of aerenchyma development. The relative timing of disintegration of the tonoplast and middle lamella appeared to differ among the three species. Changes in the organization of CMT arrays did not appear to be a predictor of PCD in S. lancifolia. Aerenchyma production in plants involves a type of PCD that is morphologically distinct from PCD described from many animals.
- Published
- 2000
35. Over two clans with peculiar hereditary corneal dystrophy.
- Author
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CUNTZ-SCHUSSLER E
- Subjects
- Humans, Cornea
- Published
- 1947
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