109 results on '"Jafarpour S"'
Search Results
2. Comparative Plasma Nitrocarburizing of AISI 316L and AISI 304 Steels Using a Solid Carbon Active Screen: Differences in the Developing Microstructures
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Jafarpour, S. M., Martin, S., Schimpf, C., Dalke, A., Biermann, H., and Leineweber, A.
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- 2024
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3. Laser absorption spectroscopy for plasma-assisted thermochemical treatment. Part II.: Impact of the carbon and water contaminants on a low-pressure N2–H2 discharge
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Pipa, A V, primary, Puth, A, additional, Böcker, J, additional, Jafarpour, S M, additional, Dalke, A, additional, Biermann, H, additional, Röpcke, J, additional, and van Helden, J H, additional
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- 2023
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4. Growth, survival, and fatty acid composition of Indian white shrimp Fenneropenaeus indicus (Milne Edwards) fed diets containing different levels of vitamin E and lipid
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Ouraji, H., Abedian Kenari, A. M., Shabanpour, B., Shabani, A., Sodagar, M., Jafarpour, S. A., and Ebrahimi, G. H.
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- 2011
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5. The synthesis of super-hydrophilic and hard MgB2 coatings as an alternative to electroless nickel coatings
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Bülbül, F., primary, Güney, M., additional, and Jafarpour, S., additional
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- 2018
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6. Principles of Primary Survey and Resuscitation in Cases of Pediatric Trauma
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Jafarpour, S., Nassiri, S. J., Bidari, A., Mojtaba Chardoli, and Rahimi-Movaghar, V.
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Male ,Pediatric ,Case rports ,lcsh:R5-920 ,Resuscitation ,Infant ,Pneumothorax ,Shock ,Trauma ,Child, Preschool ,Humans ,Wounds and Injuries ,Female ,Child ,lcsh:Medicine (General) - Abstract
Trauma is a common cause of death and disability in children. Proper approach to pediatric trauma involves adherence to ABCDE sequence in the primary survey and resuscitation in order to promptly recognize and manage immediately life threatening conditions. This readily reviewed sequence includes A: establishment and maintenance of a patent airway while maintaining cervical spine immobilization; B: evaluation of breathing, ventilation and oxygenation, immediate treatment of tension pneumothorax, open pneumothorax and massive hemothorax; C: evaluation and treatment of circulatory compromise and shock; D: Disability and Neurologic Status, assessment of signs of increased intracranial pressure and impending cerebral herniation; and E: Exposure while preventing hypothermia. Implementing these assessment and management priorities can result in more favorable outcomes.
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- 2015
7. The preparation of hard and super-hydrophilic MgB2coating by spray pyrolysis deposition
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Bülbül, F., primary, Jafarpour, S., additional, and Ertuğrul, M., additional
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- 2016
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8. Sleep quality and associated factors in residents of a major teaching hospital in Iran
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Jafarpour, S., primary and Sadeghniiat-Haghighi, K., additional
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- 2013
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9. The preparation of hard and super-hydrophilic MgB2 coating by spray pyrolysis deposition.
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Bülbül, F., Jafarpour, S., and Ertuğrul, M.
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PHASE diagrams , *IRON alloys , *ALUMINUM alloys , *EUTECTIC point , *DIFFERENTIAL scanning calorimetry - Abstract
In this study, we report spray pyrolysis deposition using an alternative precursor solution for the fabrication of MgB2 films. Polycrystalline MgB2 films were prepared by spray pyrolysis, a precursor solution of magnesium diboride nanoparticles, sodium hypophosphite, sodium succinate, sodium acetate and dimethyl sulfoxide on AZ91 magnesium alloys. The spray was carried out using argon as carrier gas at a temperature of 150 °C and a spray rate of 5 ml/min for 60 min. After spraying, the deposited samples were annealed at 300 °C for 15, 30 and 45 min in order to investigate morphological changes and crystallization behaviour. The microstructure, hardness and wettability properties of approximately 30 μm coatings were investigated by X-ray diffraction, scanning electron microscopy, microhardness tester and contact angle meter. Produced coatings showed dense and homogenous structural formation with strong grain connections. As-deposited MgB2 films showed the most pronounced preferred orientation with the (101) reflection and the highest hardness value compared to other annealed coatings at different times. Besides, all the synthesized coatings had a super-hydrophilic surface. [ABSTRACT FROM AUTHOR]
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- 2016
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10. Effect of Composite Insertion Technique on Cuspal Deflection Using an In Vitro Simulation Model
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Jafarpour, S, primary, El-Badrawy, W, primary, Jazi, HS, primary, and McComb, D, primary
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- 2012
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11. Effects of Aspirin on Placental Microstructure in Mouse
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Jafarpour, M, additional, Mahmoudiyan, A.R, additional, Jafarpour, S, additional, and Hajzade, M.R, additional
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- 2010
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12. Construction of a Large Class of Deterministic Sensing Matrices That Satisfy a Statistical Isometry Property
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Calderbank, R., primary, Howard, S., additional, and Jafarpour, S., additional
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- 2010
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13. Covering radius and the Restricted Isometry Property.
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Calderbank, R., Jafarpour, S., and Nastasescu, M.
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- 2011
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14. A game theoretic approach to expander-based compressive sensing.
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Jafarpour, S., Cevher, V., and Schapire, R.E.
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- 2011
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15. Towards an efficient algorithmic framework for pricing cellular data service.
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Bateni, M.H., Hajiaghayi, M.T., Jafarpour, S., and Dan Pei
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- 2011
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16. Uncovering elements of style.
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Wolff, J., Martens, M., Jafarpour, S., Daubechies, I., and Calderbank, R.
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- 2011
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17. Model selection: Two fundamental measures of coherence and their algorithmic significance.
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Bajwa, W.U., Calderbank, R., and Jafarpour, S.
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- 2010
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18. Sparse reconstruction via the Reed-Muller Sieve.
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Calderbank, R., Howard, S., and Jafarpour, S.
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- 2010
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19. Fishing in Poisson streams: Focusing on the whales, ignoring the minnows.
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Raginsky, M., Jafarpour, S., Willett, R., and Calderbank, R.
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- 2010
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20. Revisiting model selection and recovery of sparse signals using one-step thresholding.
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Bajwa, W.U., Calderbank, R., and Jafarpour, S.
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- 2010
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21. Detection of forgery in paintings using supervised learning.
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Polatkan, G., Jafarpour, S., Brasoveanu, A., Hughes, S., and Daubechies, I.
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- 2009
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22. A Suboptimal Network Utility Maximization Approach for Scalable Multimedia Applications.
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Talebi, M.S., Khonsari, A., Hajiesmaili, M.H., and Jafarpour, S.
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- 2009
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23. Performance bounds for expander-based compressed sensing in the presence of Poisson noise.
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Jafarpour, S., Willett, R., Raginsky, M., and Calderbank, R.
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- 2009
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24. A sublinear algorithm for sparse reconstruction with ℓ2/ℓ2 recovery guarantees.
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Calderbank, R., Howard, S., and Jafarpour, S.
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- 2009
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25. Experiments with Compressively Sampled Images and a New Debluring-Denoising Algorithm.
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Jafarpour, S., Pezeshki, A., and Calderbank, R.
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- 2008
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26. Introduction to the World of Quantum Computers.
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Jafarpour, S.
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- 2006
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27. Effect of Composite Insertion Technique on Cuspal Deflection Using an In Wtro Simulation Model.
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Jafarpour, S., El-Badrawy, W., Jazi, H. S., and McComb, D.
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DENTAL resins ,DENTAL bonding ,DENTURES ,DENTAL adhesives ,DENTAL fillings - Abstract
Objective: The objective of this study was to investigate, by simulation, the effect of conventional composite resin insertion techniques on cuspal deflection using bonded typodont artificial teeth. The deflection produced by a new low-shrinkage composite was also determined. Materials and Methods: Sixty standardized MOD preparations on ivorine maxillary pre-molars were prepared: group A at 4 mm depth and group B at 6 mm depth. Each group was further subdivided according to composite insertion technique (n=6), as follows: 1) bulk insertion, 2) horizontal increments, 3) tangential increments, and 4) a modified tangential technique. Preparations were microetched, acid-cleaned, and bonded with adhesive resin to provide micromechanical attachment before restoration with a conventional composite (Spectrum TPH³ Dentsply). Two additional subgroups at 4 mm and 6 mm depth (n=6) were restored in bulk using low-shrinkage composite (Filtek LS, 3M/ESPE). All groups received the same total photo-polymerization time. Cuspal deflection was measured during the restorative procedure using two Linear Variable Differential Transformers attached to a data acquisition system. Results: The average cuspal deflections for group A were 1) 40.17 ± 1.18 µm, 2) 25.80 ± 4.98 pm, 3) 28.27 ± 5.12 pm, and 4) 27.33 ± 2.42 µm. The deflections in group B were 1) 38.82 ± 3.64 µm, 2) 50.39 ± 9.17 µm, 3) 55.62 ± 8.16 µm, and 4) 49.61 ± 8.01 µm. Cuspal flexure for the low-shrinkage composite was 11.14 ± 1.67 µm (group A: 4 mm depth) and 16.53 ± 2.79 µm (group B: 6 mm depth). Conclusions: All insertion techniques using conventional composite caused cuspal deformation. In general, deeper preparations showed increased cuspal deflection--except in the case of bulk insertion, which was likely affected by decreased depth of cure. Cuspal movement using low-shrinkage composite was significantly reduced. [ABSTRACT FROM AUTHOR]
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- 2012
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28. Establishment of a regional multicenter traumatic spine fracture/dislocation registry
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Rahimi-Movaghar Vafa, Saadat Soheil, and Jafarpour Saba
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Medicine (General) ,R5-920 - Abstract
【Abstract】Objective: Trauma is one of the leading causes of mortality and morbidity in adults and a major contributor to health care expenditures. Although spine-related injuries constitute a small proportion of trauma cases, they need special consideration due to poor functional outcomes and substantial burden. Despite relatively extensive previous studies on traumatic spinal injuries, there is still obscurity in some aspects of the issue. The purpose of this study is to establish a regional multicenter traumatic spine fracture/dislocation registry. Methods: This is a prospective case series study, including all patients with acute traumatic spine lesions admitted to a regional multicenter since 2014. Data is extracted based upon a form developed by Sina Trauma and Surgery Research Center, Tehran University of Medical Sciences, Tehran, Iran. Novel electronic data entry software is initiated and data will be entered to the software. Information remains confidential and security considerations will be taken based on standards of data entry systems. Results: The results of this study will include age and gender distribution of the patients, causes of injury, location of pain and neurological deficit, the American Spinal Injury Association score and Frankel grade on admission, at discharge, after 6 and 12 months and at the latest annual follow-up, radiologic findings, details of operative procedures and methods of external fixation. Conclusion: This study will identify prognostic factors that influence the ultimate fate of spine fracture patients and determine short and long-term outcome of different treatment methods. It can lead to a considerable improvement in patient care and will have a great national and transnational impact. Key words: Spinal fractures; Registries; Spinal injuries; Prospective studies
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- 2014
29. Jean Aicardi (1926-2015).
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Huang A, Jafarpour S, Nishimori NA, Kazerooni L, and Santoro JD
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- 2024
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30. Anti-CD20 Therapy in Children With Severe Epstein-Barr Virus-Associated Meningoencephalitis.
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Ahsan S, Jafarpour S, Khoshnood MM, Nagesh D, Ho E, Ahsan N, and Santoro JD
- Abstract
Epstein-Barr virus meningoencephalitis is a rare central nervous system infection that lacks standardized treatment. Immunocompetent and immunosuppressed individuals with this condition frequently have poor prognostic outcomes, making the need to identify therapeutic interventions high. Here, we report 2 pediatric cases of severe Epstein-Barr virus meningoencephalitis, both unresponsive to immunoglobulin and corticosteroid therapy, who demonstrated rapid clinical recovery following rituximab administration. Prognostic outcomes revealed marked improvements in symptoms, neurologic function, and quality of life. Rituximab may offer therapeutic potential in severe and refractory Epstein-Barr virus meningoencephalitis through the medication's target of Epstein-Barr virus harboring B cells. This report emphasizes the need for timely evaluation and consideration of rituximab therapy in immunocompetent pediatric patients with Epstein-Barr virus meningoencephalitis., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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- 2024
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31. Global prevalence of polycystic ovary syndrome in women worldwide: a comprehensive systematic review and meta-analysis.
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Salari N, Nankali A, Ghanbari A, Jafarpour S, Ghasemi H, Dokaneheifard S, and Mohammadi M
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- Humans, Female, Prevalence, Adult, Adolescent, Young Adult, Middle Aged, Polycystic Ovary Syndrome epidemiology, Global Health statistics & numerical data
- Abstract
Background: Polycystic ovary syndrome (PCOS) is the most common metabolic disorder among women of reproductive age. Many factors are involved in the development of PCOS, among which genetic predisposition is probably the main contributor that is also influenced by lifestyle and environmental factors. This study aims to determine the prevalence of PCOS in different continents based on Rotterdam, AES and NIH diagnostic criteria., Methods: We conducted a systematic review and meta-analysis to evaluate the prevalence of polycystic ovary syndrome in women according to (Preferred Reporting Items for Systematic Review and Meta-Analysis) PRISMA guidelines. PubMed, Scopus, Science Direct, Web of Science and Google Scholar databases were comprehensively searched until February 2021 for relevant articles. Heterogeneity between the studies was assessed using the I
2 index. Begg and Mazumdar's test was used to evaluate publication bias., Results: A total of 35 studies with 12,365,646 subjects were retrieved. The mean age ranged from 10-45 years. Global prevalence of PCOS was 9.2% (95% CI: 6.8-12.5%) based on meta-analysis, our results showed that the global prevalence of PCOS was 5.5% (95% CI: 3.9-7.7%) based on NIH criteria, 11.5 (95% CI: 6.6-19.4) based on Rotterdam criteria, and 7.1% (95% CI: 2.3-20.2%) based on AES criteria. According to self-report subgroup analysis, the prevalence of PCOS was found to be 11% (95% CI: 5.2-21.8%)., Conclusion: Based on the results of the present study, the prevalence of PCOS in the world was 9.2% (95% CI: 6.8-12.5%). According to the results of the present study and the high prevalence of PCOS, especially in the Africa continent, it is necessary for health systems to implement measures to timely prevent and treat this syndrome., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)- Published
- 2024
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32. Risk Factors of COVID-19 associated mucormycosis in Iranian patients: a multicenter study.
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Eshraghi B, Khademi B, Mirmohammadkhani M, Khataminia G, Ghahvehchian H, Kiarudi MY, Nabie R, Parandin M, Ghasemi Boroumand P, Mohammadi R, Zia Z, Karamirad S, Jafarpour S, Fakoor M, Varshochi M, Shahraki K, Memarzadeh M, Janipour M, Mahdian Rad A, Kashkouli MB, Shekarchian F, Manouchehri V, Khosravi A, Abounoori M, Shahir A, Sajjadi SMJ, Etezad Razavi M, Hosseini NS, Ebrahimi F, Noorshargh P, Forouhari A, and Pourazizi M
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- Humans, Male, Middle Aged, Iran epidemiology, Female, Risk Factors, Prospective Studies, Aged, Adult, Antifungal Agents therapeutic use, Intensive Care Units statistics & numerical data, Amphotericin B therapeutic use, Debridement, COVID-19 complications, COVID-19 mortality, COVID-19 epidemiology, Mucormycosis epidemiology, Mucormycosis mortality, Mucormycosis drug therapy, Mucormycosis complications, SARS-CoV-2
- Abstract
Background: To evaluate the demographic, clinical, and prognostic characteristics of patients diagnosed with COVID-19-associated mucormycosis (CAM) in Iranian patients., Methods: This prospective observational study was conducted in 8 tertiary referral ophthalmology centers in different provinces of Iran during the fifth wave of the COVID-19 pandemic. All patients were subjected to complete history taking and comprehensive ophthalmological examination and underwent standard accepted treatment strategy based on the disease stage., Results: Two hundred seventy-four CAM patients (most were males (150, 54.7%)) with a mean age of 56.8 ± 12.44 years were enrolled. Patients with a history of cigarette smoking (Adjusted Odds Ratio (AOR) = 4.36), Intensive Care Unit admission (ICU) (AOR = 16.26), higher stage of CAM (AOR = 2.72), and receiving endoscopic debridement and transcutaneous retrobulbar amphotericin B (AOR = 3.30) had higher odds of mortality. History of taking systemic corticosteroids during COVID-19 was significantly associated with reduced odds of mortality (AOR = 0.16). Generalized Estimating Equations analysis showed that the visual acuity of deceased patients (LogMAR: 3.71, 95% CI: 3.04-4.38) was worse than that of patients who were discharged from the hospital (LogMAR: 2.42, 95% CI: 2.16-2.68) (P < 0.001)., Conclusions: This study highlights significant risk factors for mortality in patients with CAM, such as cigarette smoking, ICU admission, advanced CAM stages, receiving transcutaneous retrobulbar amphotericin B and worser visual acuity. Conversely, a history of systemic corticosteroid use during COVID-19 was linked to reduced mortality. These findings underscore the critical need for early identification and targeted interventions for high-risk CAM patients to improve clinical outcomes., (© 2024. The Author(s).)
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- 2024
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33. Sexual Health Education and Quality of Counseling in Pediatric-Onset Multiple Sclerosis.
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Burk K, Pagarkar D, Khoshnood MM, Jafarpour S, Ahsan N, Mitchell WG, and Santoro JD
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- Humans, Female, Adolescent, Male, Young Adult, Adult, Pregnancy, Cohort Studies, Sex Education, Pilot Projects, Family Planning Services, Multiple Sclerosis therapy, Multiple Sclerosis ethnology, Health Knowledge, Attitudes, Practice ethnology, Sexual Health, Counseling standards, Hispanic or Latino
- Abstract
Background: Disease-modifying therapies (DMTs) have revolutionized the management of multiple sclerosis (MS). Many DMTs have a risk of teratogenic outcomes, which is notable as MS disproportionally affects women of reproductive age and the rates of unplanned pregnancies among persons with MS (PwMS) are as high as 34%. Prior research suggests that patients' culture may influence their perspectives surrounding family planning. Given our institution's patient population, we compared the spectrum of knowledge in Hispanic and non-Hispanic patients with pediatric-onset MS (POMS) regarding DMTs and their associated risks during pregnancy and possible disparities in their treatment and counseling., Methods: A small cohort of patients with POMS (n = 22) were surveyed on their knowledge and beliefs surrounding family planning and sexual health counseling. Odds ratios and 95% confidence intervals were used to evaluate the association between survey question responses and ethnicity., Results: No significant differences in beliefs or knowledge regarding sexual health between Hispanic and non-Hispanic participants were identified, but many valuable themes emerged. Internet access and social relationships heavily influence participants' knowledge surrounding birth control and sexual health. Patients also desired continuous engagement in sexual health counseling., Conclusions: In this small pilot cohort, cultural views did not significantly influence whether adolescent and young adult patients with POMS seek sexual health resources. Future studies should aim to identify effective interventions for providers to educate PwMS about sexual health and family planning to address the elevated unplanned pregnancy rate in this population and provide the education these patients have vocalized a desire to receive., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)
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- 2024
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34. De novo variants in immune regulatory genes in Down syndrome regression disorder.
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Jafarpour S, Banerjee AK, Khoshnood MM, Vogel BN, Boyd NK, Nguyen L, Partridge R, Santoro SL, Gombolay GY, Fisher KS, de Asua DR, Del Ortega MC, Franklin C, Rafii MS, and Santoro JD
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- Humans, Male, Child, Female, Adolescent, Adult, Young Adult, Exome Sequencing, Down Syndrome genetics, Down Syndrome immunology
- Abstract
Background: Down Syndrome Regression Disorder (DSRD) is a rare and poorly understood disorder of the central nervous system, characterized by acute or subacute neuropsychiatric symptoms in previously healthy individuals with Down syndrome (DS). Many patients exhibit immunotherapy-responsiveness, indicative of immune dysregulation as a potential underlying etiology. While hypotheses are emerging regarding the role of interferon signaling in DSRD and other autoimmune conditions associated with DS, it is unclear why a small subset of individuals with DS develop DSRD. The aim of this study was to investigate genes of immune regulation in persons with DSRD., Methods: This study included individuals with DSRD aged 10-30 years with trio exome sequencing performed during the diagnostic work up. Descriptive statistics and univariate analysis (Chi-square and Fisher's exact test) were used to describe and compare the characteristics of individuals with and without variants., Results: Forty-one individuals with DSRD had trio exome sequencing results. Eight (20%) had heterozygous de novo variants of immune regulatory genes, with four variants being pathogenic or likely pathogenic (UNC13D, XIAP, RNASEH2A, and DNASE1L3). All genes harboring pathogenic variants were associated with interferon type-1 inflammatory response. Individuals harboring variants were more likely to have a preceding trigger (p = 0.03, 95% CI 1.21-97.06), rapid clinical decline in less than 1 month (p = 0.01, 95% CI 1.67-52.06), and MRI abnormalities (p < 0.001, 95% CI 4.89-527.71)., Discussion: A distinct subset of individuals with DSRD exhibited pathogenic variants in immune regulation genes associated with interferon-mediated inflammatory response, coinciding with previously established links between these genes and interferonopathies such as Aicardi-Goutieres syndrome. Our observations suggest that these variants might potentially contribute to the development of DSRD in individuals with DS., (© 2024. The Author(s).)
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- 2024
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35. Delayed initiation of disease modifying therapy increases relapse frequency and motor disability in pediatric onset multiple sclerosis.
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Jafarpour S, Pinto S, Vu MH, Khoshnood MM, Ahsan N, Saucier LE, and Santoro JD
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- Humans, Female, Male, Child, Adolescent, Retrospective Studies, Immunologic Factors administration & dosage, Multiple Sclerosis drug therapy, Multiple Sclerosis physiopathology, Magnetic Resonance Imaging, Time-to-Treatment, Follow-Up Studies, Recurrence
- Abstract
Objective: To evaluate association between time to initiation of disease modifying treatment (DMT) and outcomes in pediatric-onset Multiple Sclerosis (POMS)., Methods: A retrospective analysis of children with POMS from two tertiary referral pediatric Neuroimmunology clinics. Outcome measures comprised annualized relapse rate (ARR), MRI lesion burden (T1, T2-FLAIR, and post-GAD contrast sequences), EDSS, and 25-ft walk duration at the latest follow-up visit. Univariate and multivariate analysis using linear and logistic regression models were used to assess associations between patient characteristics and outcomes., Results: In total, 68 patients were reviewed. More than half of patients were female (62 %) and 32 (47 %) were Hispanic/LatinX. Median age at diagnosis was 14.2 years (IQR: 11.0-16.5), and median duration from diagnosis to the latest follow-up was 2.5 years (IQR: 1.6-4.6). Sensory (29.4 %), brainstem (23.5 %), and pyramidal (19.1 %) symptoms were most common. Interferon beta (32.4 %), dimethyl fumarate (27.9 %) and rituximab (26.5 %) were the most frequently used first-line DMT. Patients had a median ARR of 0.5 (IQR: 0.08-0.84), and EDSS score of 1.0 (IQR: 0.0-2.0) at the most recent follow-up. Delayed DMT initiation correlated with higher ARR (R = 0.38, p = 0.0016) and longer 25-ft walk duration (R = 0.34, p = 0.0077). In multivariate analysis, delayed DMT remained a significant predictor of higher ARR (p = 0.002) and longer 25-ft walk duration (p = 0.047). Delayed DMT initiation and use of low/moderate efficacy DMT predicted GAD enhancing lesions at the latest follow-up (p = 0.004 and 0.019 respectively)., Conclusion: Delayed DMT initiation in POMS is linked to unfavorable outcomes, including higher ARR and longer 25-ft walk duration., Competing Interests: Declaration of competing interest Dr. Santoro receives funding through the National Institutes of Health (NHLBI/NICHD). He has previously received funding through the National MS Society and Race to Erase MS Foundation. Dr. Santoro receives consulting fees from UCB for unrelated work on myelin oligodendrocyte glycoprotein related disease. He also receives consulting fees from Cycle Pharmaceuticals on unrelated work to multiple sclerosis and primary periodic paralysis. Other authors declare no competing interests., (Copyright © 2024. Published by Elsevier B.V.)
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- 2024
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36. The impacts of dipeptidyl- peptidase 4 (DPP-4) inhibitors on common female malignancies: A systematic review.
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Niazmand A, Nedaeinia R, Vatandoost N, Jafarpour S, Safabakhsh S, Kolahdouz M, Ferns GA, and Salehi R
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- Humans, Female, Ovarian Neoplasms drug therapy, Ovarian Neoplasms genetics, Endometrial Neoplasms drug therapy, Endometrial Neoplasms genetics, Uterine Cervical Neoplasms drug therapy, Uterine Cervical Neoplasms genetics, Diabetes Mellitus, Type 2 drug therapy, Diabetes Mellitus, Type 2 complications, Dipeptidyl-Peptidase IV Inhibitors pharmacology, Dipeptidyl-Peptidase IV Inhibitors therapeutic use, Dipeptidyl Peptidase 4 metabolism, Epithelial-Mesenchymal Transition drug effects, Breast Neoplasms drug therapy, Breast Neoplasms genetics
- Abstract
The inhibition of dipeptidyl- peptidase 4 (DPP-4) is an essential therapy for controlling hyperglycemia in patients with type 2 diabetes (T2DM). However, the role of DPP-4 in cancer is not yet clear, with some studies suggesting that it may either promote or suppress tumors. This makes it crucial to have personalized treatment for diabetic women with cancer to effectively manage their diabetes whilst and preventing cancer mortality. To address this issue, we conducted an integrative in-silico analysis and systematic review of the literature to comprehensively examine the relationship between DPP-4 expression and the effects of its inhibitors on prevalent female malignancies. We specifically chose studies that examined the effects of DPP-4 expression and DPP-4 inhibition (DPP-4i) on prevalent cancers in women, such as breast cancer (BC), ovarian cancer (OV), cervical cancer (CC), and endometrial cancer (EC). These studies comprised those conducted both in vivo and in vitro. The review of the literature indicated that DPP-4i may worsen aggressive traits such as metastasis, Epithelial-to-mesenchymal transition (EMT), and chemotherapy resistance in BC cells. However, cohort studies on diabetic and BC patients did not confirm these findings. In vitro studies indicate that on OV, DPP-4 upregulation has been shown to prevent metastasis, while CCappears to be influenced by DPP-4 expression in terms of cell migration. sitagliptin, a pharmaceutical inhibitor of DPP-4, had a significant impact on reducing adhesion in CC cells in vitro. Overexpression of DPP-4 increased cell migration and proliferation in CC and EC cells, and hence the application of sitagliptin is expected to prevent this effect. On the other hand, the result of in-silico data confirmed that a significant correlation exists between DPP-4 expression and immune cell infiltration in breast, ovarian, cervical squamous cell carcinoma and endocervical adenocarcinoma (CESC) as well as downregulated in these cancers compared to their normal tissue samples. Furthermore, a significant (p < 0.05) effect on OS of BC and CESC patients has been reported due to the elevation of DPP-4 methylation on a specific CPG Island. These findings could aid in creating specialized treatments for diabetic women with specific malignancies, but caution should be exercised when considering the patient's medical history and cancer type., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)
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- 2024
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37. Down Syndrome and Autoimmune Disease.
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Hom B, Boyd NK, Vogel BN, Nishimori N, Khoshnood MM, Jafarpour S, Nagesh D, and Santoro JD
- Abstract
Down syndrome is the most common genetic cause of intellectual disability and has previously been associated with a variety of autoimmune disorders affecting multiple organ systems. The high prevalence of autoimmune disease, in conjunction with other inflammatory and infectious diseases, in this population suggests an intrinsic immune dysregulation associated with triplication of chromosome 21. Emerging data on the role of chromosome 21 in interferon activation, cytokine production, and activation of B-cell mediated autoimmunity are emerging hypotheses that may explain the elevated prevalence of autoimmune thyroid disease, celiac disease, type I diabetes, autoimmune skin disease, and a variety of autoimmune neurologic conditions. As the life expectancy for individuals with Down syndrome increases, knowledge of the epidemiology, clinical features, management and underlying causes of these conditions will become increasingly important. Disorders such as Hashimoto's thyroiditis are prevalent in between 13 and 34% of individuals with Down syndrome but only 3% of the neurotypical population, a pattern similarly recognized in individuals with Celiac Disease (5.8% v 0.5-2%), alopecia areata (27.7% v. 2%), and vitiligo (4.4% v. 0.05-1.55%), respectively. Given the chronicity of autoimmune conditions, early identification and management can significantly impact the quality of life of individuals with Down syndrome. This comprehensive review will highlight common clinical autoimmune conditions observed in individuals with Down syndrome and explore our current understanding of the mechanisms of disease in this population., (© 2024. The Author(s).)
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- 2024
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38. Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder.
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Santoro JD, Jafarpour S, Khoshnood MM, Boyd NK, Vogel BN, Nguyen L, Saucier LE, Partridge R, Tiongson E, Ramos-Platt L, Nagesh D, Ho E, Rosser T, Ahsan N, Mitchell WG, and Rafii MS
- Subjects
- Child, Young Adult, Humans, Retrospective Studies, Immunoglobulins, Intravenous adverse effects, Down Syndrome complications, Down Syndrome drug therapy
- Abstract
Three large multi-center studies have identified the clinical utility of intravenous immunoglobulin (IVIg) in the treatment of Down syndrome regression disorder (DSRD). Yet the tolerability of infusions in individuals with DS and the safety of IVIg remains unknown in this population. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD compared to a real-world cohort of individuals with pediatric onset neuroimmunologic disorders. A single-center, retrospective chart review evaluating clinically documented infusion reactions was performed for individuals meeting international consensus criteria for DSRD and having IVIg infusions between 2019 and 2023. Infusion reactions were evaluated for severity and need for alterations in infusion plan. This cohort was compared against an age and sex matched cohort of children with neuroimmunologic conditions who had also received IVIg infusions. In total, 127 individuals with DSRD and 186 individuals with other neuroimmunologic disorders were enrolled. There was no difference in the overall rate of adverse reactions (AEs) between the DSRD and general neuroimmunology cohorts (p = 0.31, 95% CI: 0.80-2.00), but cardiac-related AEs specifically were more common among the DSRD group (p = 0.02, 95% CI: 1.23-17.54). When AEs did occur, there was no difference in frequency of pharmacologic intervention (p = 0.12, 95% CI: 0.34-1.13) or discontinuation of therapy (p = 0.74, 95% CI: 0.06-7.44). There was a higher incidence of lab abnormalities on IVIG among the general neuroimmunology cohort (p = 0.03, 95% CI: 0.24-0.94) compared to the DSRD cohort. Transaminitis was the most common laboratory abnormality in the DSRD group. In a large cohort of individuals with DSRD, there were no significant differences in the safety and tolerability of IVIg compared to a cohort of children and young adults with neuroimmunologic conditions., (© 2024 Wiley Periodicals LLC.)
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- 2024
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39. Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.
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Santoro JD, Khoshnood MM, Jafarpour S, Nguyen L, Boyd NK, Vogel BN, Kammeyer R, Patel L, Manning MA, Rachubinski AL, Filipink RA, Baumer NT, Santoro SL, Franklin C, Tamrazi B, Yeom KW, Worley G, Espinosa JM, and Rafii MS
- Subjects
- Humans, Retrospective Studies, Case-Control Studies, Neuroimaging methods, Immunotherapy, Down Syndrome therapy
- Abstract
Objective: To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses., Methods: A multicenter, retrospective, case-control study which reviewed neuroimaging studies of individuals with DSRD and compared them to a control cohort of individuals with Down syndrome (DS) alone was performed. Individuals aged 10-30 years and meeting international consensus criteria for DSRD were included. The presence of T1, T2/FLAIR, and SWI signal abnormalities was reviewed. Response rates to various therapies, including immunotherapy, were evaluated in the presence of neuroimaging abnormalities., Results: In total, 74 individuals (35%) had either T2/FLAIR and/or SWI signal abnormality compared to 14 individuals (12%) without DSRD (p < 0.001, 95%CI: 2.18-7.63). T2/FLAIR signal abnormalities were not appreciated more frequently in individuals with DSRD (14%, 30/210) than in the control cohort (9%, 11/119) (p = 0.18, OR: 1.63, 95%CI: 0.79-3.40). SWI signal abnormalities were appreciated at a higher frequency in individuals with DSRD (24%, 51/210) compared to the control cohort (4%, 5/119) (p < 0.001, OR: 7.31, 95%CI: 2.83-18.90). T2/FLAIR signal abnormalities were localized to the frontal (40%, 12/30) and parietal lobes (37%, 11/30). SWI signal abnormalities were predominantly in the bilateral basal ganglia (94%, 49/52). Individuals with DSRD and the presence of T2/FLAIR and/or SWI signal abnormalities were much more likely to respond to immunotherapy (p < 0.001, OR: 8.42. 95%CI: 3.78-18.76) and less likely to respond to benzodiazepines (p = 0.01, OR: 0.45, 95%CI: 0.25-0.83), antipsychotics (p < 0.001, OR: 0.28, 95%CI: 0.11-0.55), or electroconvulsive therapy (p < 0.001, OR: 0.12; 95%CI: 0.02-0.78) compared to individuals without these neuroimaging abnormalities., Interpretation: This study indicates that in individuals diagnosed with DSRD, T2/FLAIR, and SWI signal abnormalities are more common than previously thought and predict response to immunotherapy., (© 2024 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)
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- 2024
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40. Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome.
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Jafarpour S, Suddock J, Hawes D, and Santoro JD
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- Humans, Infant, Disease Progression, Janus Kinase Inhibitors therapeutic use, Autoimmune Diseases of the Nervous System drug therapy, Autoimmune Diseases of the Nervous System genetics, Nervous System Malformations
- Abstract
Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy characterized by upregulation of type I interferon response. It is associated with increased mortality and severe disabilities. Janus Kinase (JAK) inhibitors have shown effectiveness in treatment of AGS through blocking the downstream effects of interferon activation. We illustrate post-mortem histopathologic findings in a patient with AGS who received baricitinib treatment for a duration of over 4 years, initiating at a remarkably young age of 2 months. We observed global cerebral atrophy, markedly diminished white matter, abundant calcifications involving supratentorial white matter, basal ganglia, dentate nuclei, and brainstem. This study showed profound central nervous system (CNS) sequelae despite early initiation of treatment. Our findings highlight the potential necessity for therapeutic options with enhanced CNS bioavailability., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
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- 2024
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41. Clinical Implications and Prognostic Value of Leucine-Rich G Protein-Coupled Receptor 5 Expression as A Cancer Stem Cell Marker in Malignancies: A Systematic Review and Meta-Analysis.
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Ghobakhloo S, Khoshhali M, Vatandoost N, Jafarpour S, Niazmand A, Nedaeinia R, and Salehi R
- Abstract
Leucine-rich G protein-coupled receptor 5 ( LGR5 ) is a marker of cancer stem cells (CSCs) in various cancers. Based on different studies, conflicting reports exist on correlation between LGR5 expression and poor prognosis/ clinicopathological parameters in cancer patients. Therefore, our purpose in conducting this study was to investigate correlation between LGR5 expression and outcomes of cancer patients under study through a systematic review and meta-analysis. Relevant articles were searched and collected using EMBASE, PubMed, Science Direct, and Scopus databases until December 21, 2022. This study was conducted to examine correlation between LGR5 expression and different clinical outcomes, such as recurrence-free survival (RFS), disease-free survival (DFS), overall survival (OS), and clinicopathological characteristics of the included cancer patients. To achieve this, hazard ratios (HRs) with 95% confidence intervals (CIs) and odds ratios (ORs) with 95% CIs were used as statistical measures. A meta-analysis was conducted using STATA 12.0 software. Finally, 53 studies including 9523 patients met the inclusion criteria. Significantly, high-level expression of LGR5 was related to poor prognosis in terms of OS, higher tumor stage, presence of distant metastasis, and presence of lymph node metastasis. It was discovered through subgroup analysis that several factors, including the study area, evaluation method, and type of cancer, can influence the correlation between LGR5 expression and negative prognosis in cancer patients. According to the results of our study, LGR5 overexpression was related to poor OS in cancer patients. In addition, clinicopathological data indicated an unfavorable prognosis in cancer patients with high LGR5 expression. In conclusion, LGR5 may serve as a potential prognostic marker for predicting survival in certain cancer types.
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- 2024
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42. Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis.
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Abe J, Jafarpour S, Vu MH, O'Brien D, Boyd NK, Vogel BN, Nguyen L, Paulsen KC, Saucier LE, Ahsan N, Mitchell WG, and Santoro JD
- Abstract
Background: Pediatric onset multiple sclerosis (POMS) commonly occurs at the time of various endocrine changes. Evaluation of the impact of endocrine status on disease severity in POMS has not been previously explored., Objective: This study sought to evaluate if sex and stress hormones in children with POMS impact motor and non-motor diseases severity., Methods: A single-center case control study was performed. Individuals with POMS were compared to individuals without neurologic disease. Each individual had three blood draws assessing stress and sex hormones between 07:00 and 09:00. Measures of fatigue (Epworth sleepiness scale), depression (PHQ-9), and quality of life (PedsQL) assessed at each visit., Results: Forty individuals with POMS and 40 controls were enrolled. Individuals with POMS had lower free testosterone ( p = 0.003), cortisol ( p < 0.001), and ACTH ( p < 0.001) and had higher progesterone ( p = 0.025) levels than controls. Relapses and EDSS were not impacted by endocrine variables. The POMS cohort had a significantly higher Epworth score ( p < 0.001), PHQ-9 score ( p < 0.001), and lower PQL score ( p < 0.001) than controls. Non-motor measures were not associated with endocrine status., Conclusion: Free testosterone, cortisol, ACTH, and progesterone were abnormal in children with POMS although there was no association between endocrine status and markers of disease severity or non-motor symptoms of MS., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Abe, Jafarpour, Vu, O'Brien, Boyd, Vogel, Nguyen, Paulsen, Saucier, Ahsan, Mitchell and Santoro.)
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- 2023
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43. The Impact of Neuroimmunologic Disease and Developing Nervous System.
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Santoro JD, Jafarpour S, Boyd NK, Nguyen L, and Khoshnood MM
- Abstract
Over the last two decades, neuroimmunologic disorders of childhood have been increasingly described, phenotyped, and treated. These disorders remain rare in the general population and while sharing common therapeutic interventions due to their immune pathophysiology, are heterogeneous with regard to presentation and risk of recurrence. As such, the impact of these disorders on the developing brain has come into the forefront of emerging research in pediatric neuroimmunology. Investigations into the singular impact of monophasic disease on long-term development and the impact of early and aggressive disease-modifying therapy in relapsing conditions are quickly becoming areas of ripe investigation as the field's most optimal way to treat and monitor these conditions over time. Although critically important in evaluating the developing brain, research has been heterogeneous among these diseases and limited by small cohort size. This narrative review details the role of common neuroimmunologic disorders in long-term neurological and cognitive outcomes in children as they develop., (Copyright © 2023 Elsevier Inc. All rights reserved.)
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- 2023
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44. Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder.
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Santoro JD, Spinazzi NA, Filipink RA, Hayati-Rezvan P, Kammeyer R, Patel L, Sannar EA, Dwyer L, Banerjee AK, Khoshnood M, Jafarpour S, Boyd NK, Partridge R, Gombolay GY, Christy AL, Real de Asua D, Del Carmen Ortega M, Manning MA, Van Mater H, Worley G, Franklin C, Stanley MA, Brown R, Capone GT, Quinn EA, and Rafii MS
- Subjects
- Humans, Immunoglobulins, Intravenous, Prospective Studies, Immunotherapy, Recurrence, Down Syndrome therapy
- Abstract
Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics associated with relapse after therapy discontinuation. A prospective, multi-center, non-randomized, observational study was performed. Patients met criteria for DSRD and were treated with IVIg. All patients underwent a standardized wean-off therapy after 9-12 months of treatment. Baseline, on-therapy, and relapse scores of the Neuropsychiatric Inventory Total Score (NPITS), Clinical Global Impression-Severity (CGI-S), and the Bush-Francis Catatonia Rating Scale (BFCRS) were used to track clinical symptoms. Eighty-two individuals were enrolled in this study. Patients had lower BFCRS (MD: -6.68; 95% CI: -8.23, -5.14), CGI-S (MD: -1.27; 95% CI: -1.73, -0.81), and NPITS scores (MD: -6.50; 95% CI: -7.53, -5.47) while they were on therapy compared to baseline. Approximately 46% of the patients (n = 38) experienced neurologic relapse with wean of IVIg. Patients with neurologic relapse were more likely to have any abnormal neurodiagnostic study (χ
2 = 11.82, P = 0.001), abnormal MRI (χ2 = 7.78, P = 0.005), and abnormal LP (χ2 = 5.45, P = 0.02), and a personal history of autoimmunity (OR: 6.11, P < 0.001) compared to patients without relapse. IVIg was highly effective in the treatment of DSRD. Individuals with a history of personal autoimmunity or neurodiagnostic abnormalities were more likely to relapse following weaning of immunotherapy, indicating the potential for, a chronic autoimmune etiology in some cases of DSRD., (© 2023. Springer Nature Limited.)- Published
- 2023
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45. Status of integrin subunit alpha 4 promoter DNA methylation in colorectal cancer and other malignant tumors: a systematic review and meta-analysis.
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Jafarpour S, Yazdi M, Nedaeinia R, Vatandoost N, Ferns GA, and Salehi R
- Abstract
Background and Purpose: Although many recent studies have analyzed the validation of integrin subunit alpha 4 (ITGA4) biomarker for cancer detection in patients with various malignancies, the diagnostic value of ITGA4 methylation for malignant tumors remains uncertain. We performed a systematic review and meta-analysis to unravel the relationship between ITGA4 promoter methylation status and malignant tumors., Experimental Approach: A meta-analysis was performed using the metaphor package in R 3.5 and Meta-Disc 1.4 software. Data were derived from a search of main electronic databases up to January 2022. SROC analysis was used to evaluate the status of ITGA4 promoter methylation in colorectal cancer (CRC) and other cancers. A total of 1232 tumor samples and 649 non-tumor samples from 13 studies were analyzed., Findings/results: The pooled results including all types of cancer provided evidence that ITGA4 hypermethylation was more frequent in tumor samples than non-tumor samples (OR 13.32, 95% CI 7.96-22.29). Methylation of ITGA4 has a pooled sensitivity of 0.95 (95% CI: 0.94-0.97), a pooled specificity of 0.57 (95% CI: 0.54-0.60), and an area under the curve (AUC) of 0.94. When the analysis was performed independently for CRC, it revealed a higher association (OR = 20.77, 95% CI: 9.15-47.15). The assessment of ITGA4 methylation of tissue samples resulted in a pooled sensitivity of 0.99 (95% CI: 0.97-1.00) and a pooled specificity of 0.90 (95% CI: 0.86-0.93), and AUC of 0.94 for the diagnosis of CRC., Conclusion and Implications: ITGA4 methylation analysis is a reliable method for CRC screening in tissue samples., Competing Interests: The authors declared no conflict of interest in this study., (Copyright: © 2023 Research in Pharmaceutical Sciences.)
- Published
- 2023
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46. EEG Biomarkers of Repository Corticotropin Injection Treatment.
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Tanritanir A, Vieluf S, Jafarpour S, Wang X, and Loddenkemper T
- Subjects
- Infant, Male, Humans, Retrospective Studies, Neoplasm Recurrence, Local drug therapy, Electroencephalography, Adrenocorticotropic Hormone therapeutic use, Biomarkers, Treatment Outcome, Spasms, Infantile
- Abstract
Purpose: Hypsarrhythmia is one of the major diagnostic and treatment response criteria in infantile spasms (IS). The clinical and electrophysiological effect of repository corticotropin injection treatment on IS was evaluated using electrophysiological biomarkers., Methods: Consecutive infants (<24 months) treated with repository corticotropin injection for IS were included in this retrospective descriptive study. Inclusion criteria were (1) clinical IS diagnosis, (2) repository corticotropin injection treatment, and (3) consecutive EEG recordings before and after repository corticotropin injection treatment. Patients with tuberous sclerosis complex were excluded. Response to treatment was defined as freedom from IS for at least 7 consecutive days during the treatment and resolution of hypsarrhythmia. The authors defined "relapse" as the recurrence of seizures after an initial response. Electrophysiological biomarker assessment included evaluation of semiautomatic spike counting algorithm, delta power, and delta coherence calculation during non-REM sleep EEG., Results: One hundred fifty patients (83 males; 55%; median age of IS onset: 5.9 months) with complete data were included, including 101 responders (67%, 71 with sustained response, and 30 relapses). Fifty patients (33%) with complete EEG data also underwent advanced EEG analysis. Baseline delta coherence was higher in sustained responders than in nonresponders or patients who relapsed. Greater decreases in semiautomatic spike counting algorithm, delta power, and delta coherence were found in sustained responders compared with nonresponders or patients who relapsed., Conclusions: Repository corticotropin injection treatment was associated with a 67% response rate in patients with IS. Computational biomarkers beyond hypsarrhythmia may provide additional information during IS treatment, such as early determination of treatment response and outcome assessment., Competing Interests: Investigator initiated grant (#IIR-USA-000062) from Mallinckrodt Pharmaceuticals (PI: T.L.). T. Loddenkemper and A. Tanritanir are part of a pending patent application related to EEG biomarkers in the setting of infantile spasms assessment. The remaining authors have no conflicts of interest to disclose., (Copyright © 2021 by the American Clinical Neurophysiology Society.)
- Published
- 2023
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47. Impact of COVID-19 on the patient referral pattern and conversion rate in the university versus private facial plastic surgery centers.
- Author
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Abdolalizadeh P, Kashkouli MB, Jafarpour S, Rezaei S, Ghanbari S, and Akbarian S
- Subjects
- Humans, Universities, Referral and Consultation, COVID-19 epidemiology, Surgery, Plastic education, Surgery, Plastic methods, Plastic Surgery Procedures
- Abstract
Purpose: To compare the number of referrals and conversion rate between the pandemic and pre-pandemic period., Methods: The number of referrals and conversion rate between the 10-month pandemic (March-December 2020) and pre-pandemic (March-December 2019) were evaluated in the two university (mainly non-cosmetic) and private (mainly cosmetic) facial plastic surgery centers. Demographics and monthly number and type (cosmetic and non-cosmetic) of the referrals and surgeries were recorded from the both and cosmetic facial injections (botulinum toxin and filler) and the source of referrals (web- and non-web-based) from the private center. The conversion rate was a ratio of the number of the surgeries to the number of referrals., Results: The number of referrals declined by 7.7% in the private center which was significantly higher for the non-cosmetic (26%) than the cosmetic (0.5%) referrals. It was 32% in the university center. The private center conversion rate significantly (P < 0.001) decreased for both the cosmetic (60%) and non-cosmetic (82%) procedures. It was not significantly different between the cosmetic (65%) and non-cosmetic (58%) procedures in the university center. However, the number of cosmetic facial injections (11%) and the web-based referral source (4%) increased. The recovery was better for the number of referrals (better in the private center) than the conversion rate., Conclusion: The fall in the conversion rate was statistically significant in the private center. While the number of referrals recovered to almost the pre-pandemic level, the conversion rates, despite recovery, remained at a lower level at the end., (© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)
- Published
- 2023
- Full Text
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48. Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder.
- Author
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Santoro J, Spinazzi N, Filipink R, Hayati-Rezvan P, Kammeyer R, Patel L, Sannar E, Dwyer L, Banerjee A, Khoshnood M, Jafarpour S, Boyd N, Partridge R, Gombolay G, Christy A, Real de Asua D, Del Carmen Ortega M, Manning M, Van Mater H, Worley G, Franklin C, Stanley M, Brown R, Capone G, Quinn E, and Rafii M
- Abstract
Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics associated with relapse after therapy discontinuation. A prospective, multi-center, non-randomized, observational study was performed. Patients met criteria for DSRD and were treated with IVIg. All patients underwent a standardized wean off therapy after 9-12 months of treatment. Baseline, on therapy, and relapse scores of the Neuropsychiatric Inventory Total Score (NPITS), Clinical Global Impression-Severity (CGI-S), and the Bush-Francis Catatonia Rating Scale (BFCRS) were used to track clinical symptoms. Eighty-two individuals were enrolled in this study. Patients had lower BFCRS (MD: -6.68; 95% CI: -8.23, -5.14), CGI-S (MD: -1.27; 95% CI: -1.73, -0.81), and NPITS scores (MD: -6.50; 95% CI: -7.53, -5.47) while they were on therapy compared to baseline. Approximately 46% of the patients (n = 38) experienced neurologic relapse with wean of IVIg. Patients with neurologic relapse were more likely to have any abnormal neurodiagnostic study (χ2 = 11.82, p = 0.001), abnormal MRI (χ2 = 7.78, p = 0.005), and abnormal LP (χ2 = 5.45, p = 0.02), and a personal history of autoimmunity (OR: 6.11, p < 0.001) compared to patients without relapse. IVIg was highly effective in the treatment of DSRD. Individuals with a history of personal autoimmunity or neurodiagnostic abnormalities were more likely to relapse following weaning of immunotherapy, indicating the potential for, a chronic autoimmune etiology in some cases of DSRD.
- Published
- 2023
- Full Text
- View/download PDF
49. Prevalence and Predictors of Seizure Clusters in Pediatric Patients With Epilepsy: The Harvard-Yale Pediatric Seizure Cluster Study.
- Author
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Jafarpour S, Fong MWK, Detyniecki K, Khan A, Jackson-Shaheed E, Wang X, Lewis S, Benjamin R, Gaínza-Lein M, O'Bryan J, Hirsch LJ, and Loddenkemper T
- Subjects
- Child, Humans, Prevalence, Brain Damage, Chronic, Risk Factors, Anticonvulsants therapeutic use, Epilepsy drug therapy, Epilepsy epidemiology, Epilepsy, Generalized drug therapy, Status Epilepticus drug therapy
- Abstract
Background: Determine the prevalence of seizure clusters (two or more seizures in six hours), use of rescue medications, and adverse outcomes associated with seizure clusters in pediatric patients with a range of epilepsy severities, and identify risk factors predictive of seizure clusters., Methods: Prospective observational two-center study, including phone call and seizure diary follow-up for 12 months in patients with epilepsy aged one month to 18 years. We classified patients into three risk groups based on seizures within the prior year: high, seizure cluster (two or more seizures within one day); intermediate, at least one seizure but no days with two or more seizures; low, no seizures., Results: One-third (32.3%; high risk, 72.4%; intermediate risk, 30.4%; low risk, 3.1%) of 297 patients had a seizure cluster during the study, including half (46.2%) of the patients with active seizures at baseline (intermediate- and high-risk groups combined). Emergency room visits or injuries were no more likely due to a seizure cluster than an isolated seizure. Rescue medications were utilized in 15.8% of patients in the high-risk group and 19.2% in the intermediate-risk group. History of status epilepticus (adjusted odds ratio [aOR], 2.13; confidence interval [CI], 1.09 to 4.16]), seizure frequency greater than four per month (aOR, 4.27; CI, 1.92 to 9.50), and high-risk group status (aOR, 6.42; CI, 2.97 to 13.87) were associated with greater odds of seizure cluster., Conclusions: Seizure clusters are common in pediatric patients with epilepsy. High seizure frequency was the strongest predictor of clusters. Rescue medications were underutilized. Future studies should evaluate the applicability and effectiveness of these medications for optimization of pediatric seizure cluster treatment and reduction of seizure-related emergency department visits, injuries, and mortality., (Copyright © 2022 Elsevier Inc. All rights reserved.)
- Published
- 2022
- Full Text
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50. Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.
- Author
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Jafarpour S, Banerjee A, Boyd NK, Vogel BN, Paulsen KC, Ahsan N, Mitchell WG, Jeste SS, and Santoro JD
- Subjects
- Humans, Child, Exome Sequencing, Genetic Testing, Nucleotides, Genetic Predisposition to Disease genetics, Adaptor Proteins, Signal Transducing genetics, Membrane Proteins genetics, Guanine Nucleotide Exchange Factors genetics, Autoimmune Diseases, Central Nervous System Diseases
- Abstract
Background: There is a gap in the literature regarding genetic underpinnings of pediatric autoimmune CNS diseases. This study explored rare gene variants implicated in immune dysregulation within these disorders., Methods: This was a single-center observational study of children with inflammatory CNS disorder who had genetic testing through next generation focused exome sequencing targeting 155 genes associated with innate or adaptive immunity. For in silico prediction of functional effects of single-nucleotide variants, Polymorphism Phenotyping v2, and Sorting Intolerant from Tolerant were used, and Combined Annotation Dependent Depletion (CADD) scores were calculated. Identified genes were analyzed using Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis., Results: Of 54 patients, 42 (77.8%) carried variant(s), among which 12 (22.2%) had 3-8 variants. Eighty-eight unique single-nucleotide variants of 55 genes were identified. The most variants were detected in UNC13D, LRBA, LYST, NOD2, DOCK8, RNASEH2A, STAT5B, and AIRE. The majority of variants (62, 70.4%) had CADD > 10. KEGG pathway analysis revealed seven genes associated with primary immunodeficiency (Benjamini 1.40E - 06), six genes with NOD-like receptor signaling (Benjamini 4.10E - 04), five genes with Inflammatory Bowel Disease (Benjamini 9.80E - 03), and five genes with NF-kappa B signaling pathway (Benjamini 1.90E - 02)., Discussion: We observed a high rate of identification of rare and low-frequency variants in immune regulatory genes in pediatric neuroinflammatory CNS disorders. We identified 88 unique single-nucleotide variants of 55 genes with pathway analysis revealing an enrichment of NOD2-receptor signaling, consistent with involvement of the pathway within other autoinflammatory conditions and warranting further investigation., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)
- Published
- 2022
- Full Text
- View/download PDF
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