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Article ; Online: von Willebrand disease: A guide for the internist.

Kaur, Varinder / Elghawy, Omar / Deshpande, Saarang / Riley, David

2024 Volume 91, Issue 2, Page(s) 119–127

Abstract: von Willebrand disease (VWD), the most common inherited bleeding disorder, results when patients either do not make enough von Willebrand factor (VWF) or make defective VWF. The pathophysiology of this disorder is complex but needs to be understood to ... ...

Abstract	von Willebrand disease (VWD), the most common inherited bleeding disorder, results when patients either do not make enough von Willebrand factor (VWF) or make defective VWF. The pathophysiology of this disorder is complex but needs to be understood to interpret the diagnostic tests. Most patients have mild to moderate symptoms and can be adequately counseled and managed by a general internist, but some need to consult a hematologist. We review the pathophysiology of VWD, its subtypes, common presentations of each subtype, diagnostic testing, and management of mild as well as severe clinical manifestations of VWD.
MeSH term(s)	Humans ; von Willebrand Diseases/diagnosis ; von Willebrand Diseases/therapy ; von Willebrand Factor ; Physicians
Chemical Substances	von Willebrand Factor
Language	English
Publishing date	2024-02-02
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	639116-3
ISSN	1939-2869 ; 0891-1150
ISSN (online)	1939-2869
ISSN	0891-1150
DOI	10.3949/ccjm.91a.22033
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Article ; Online: Improved survival for stage IV sinonasal small cell neuroendocrine carcinoma treated with chemotherapy and anti-PD-L1 therapy.

Selesky, Margaret / Elghawy, Omar / Kaur, Varinder

BMJ case reports

2023 Volume 16, Issue 11

Abstract: Small cell carcinoma neuroendocrine type (SCCNET) is a rare tumour of the head and neck. Due to its infrequency, a paucity of data exists on optimal treatment, and the current paradigm for advanced SCCNET mirrors that of extensive small cell lung cancer. ...

Abstract	Small cell carcinoma neuroendocrine type (SCCNET) is a rare tumour of the head and neck. Due to its infrequency, a paucity of data exists on optimal treatment, and the current paradigm for advanced SCCNET mirrors that of extensive small cell lung cancer. Increasingly, the treatment for extrapulmonary small cell carcinomas like SCCNET has incorporated immune checkpoint inhibitors (ICIs), although the utility of ICIs is not fully understood. We present a case of stage IVC sinonasal SCCNET in a woman in her 90s, who experienced eyelid swelling and unintentional weight loss. After diagnostic work-up, she was treated with etoposide, carboplatin and atezolizumab with a complete response to therapy. The patient had one episode of inflammatory polyarthropathy which resolved with steroids but otherwise tolerated treatment well and is now living with an overall survival of greater than 27 months. This case highlights the long-term efficacy of combination ICIs and chemotherapy in the treatment of SCCNET.
MeSH term(s)	Female ; Humans ; Lung Neoplasms/pathology ; Carcinoma, Small Cell/drug therapy ; Carcinoma, Non-Small-Cell Lung/drug therapy ; Carboplatin/therapeutic use ; Small Cell Lung Carcinoma ; Carcinoma, Neuroendocrine/drug therapy
Chemical Substances	Carboplatin (BG3F62OND5)
Language	English
Publishing date	2023-11-17
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2023-255313
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Article ; Online: Diagnosis and management of gastrointestinal SMARCA4-deficient undifferentiated tumors.

Wang, John / Elghawy, Omar / Kurpiel, Brett / Kaur, Varinder

Clinical journal of gastroenterology

2023 Volume 16, Issue 6, Page(s) 807–814

Abstract: SMARCA4-deficient undifferentiated tumors are a rare clinical entity with an aggressive clinical course, poor prognosis, and no standard-of-care therapeutic approach. These have most frequently been documented in the lung and thoracic cavity. There is a ... ...

Abstract	SMARCA4-deficient undifferentiated tumors are a rare clinical entity with an aggressive clinical course, poor prognosis, and no standard-of-care therapeutic approach. These have most frequently been documented in the lung and thoracic cavity. There is a growing body of evidence for the role of immunotherapy in SMARCA4-deficient lung cancer, a disease process that historically does very poorly with cytotoxic chemotherapy alone. We present three cases where the primary tumors were instead found within the gastrointestinal system: two originating from the small bowel and one from the esophagus. In all three cases, clinical response was seen with pembrolizumab therapy, with two of the three patients receiving long-term benefit. Our series suggests that anti-PD1 immunotherapy may have promising efficacy for undifferentiated carcinomas of the gastrointestinal tract with SMARCA4 deficiency.
MeSH term(s)	Humans ; Carcinoma/pathology ; Gastrointestinal Tract/pathology ; Biomarkers, Tumor ; DNA Helicases/genetics ; Nuclear Proteins/genetics ; Transcription Factors/genetics
Chemical Substances	Biomarkers, Tumor ; SMARCA4 protein, human (EC 3.6.1.-) ; DNA Helicases (EC 3.6.4.-) ; Nuclear Proteins ; Transcription Factors
Language	English
Publishing date	2023-08-31
Publishing country	Japan
Document type	Journal Article
ZDB-ID	2429411-1
ISSN	1865-7265 ; 1865-7257
ISSN (online)	1865-7265
ISSN	1865-7257
DOI	10.1007/s12328-023-01853-3
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Article ; Online: Current State of Platelet-rich Plasma in the Treatment of Rheumatic Disease: A Retrospective Review of the Literature.

Jacobs, Adam / Elghawy, Omar / Baruqui, Diego Lugo / Elghawy, Ahmed Aly

Current rheumatology reviews

2023 Volume 19, Issue 4, Page(s) 400–407

Abstract: Introduction: Rheumatic diseases are a spectrum of autoimmune or inflammatory diseases that cause damage to the musculoskeletal system as well as vital organs, such as the heart, lungs, kidneys, and central nervous system.: Methods: The study of ... ...

Abstract	Introduction: Rheumatic diseases are a spectrum of autoimmune or inflammatory diseases that cause damage to the musculoskeletal system as well as vital organs, such as the heart, lungs, kidneys, and central nervous system. Methods: The study of rheumatic disease has made great progress in the understanding and management of these conditions in the last few decades using disease-modifying antirheumatic drugs and synthesized biological immunomodulating therapies. However, one potential treatment that has not been well investigated in rheumatic disease is platelet-rich plasma (PRP). PRP is proposed to facilitate the healing of injured tendons and ligaments through a variety of mechanisms, including mitogenesis, angiogenesis and macrophage activation via cytokine release, although its exact mechanism is unclear. Result: There has been a great deal of work in determining the exact preparation method and composition of PRP for regenerative purposes in orthopedic surgery, sports medicine, dentistry, cardiac surgery, pediatric surgery, gynecology, urology, plastic surgery, ophthalmology, and dermatology. Despite this, there is a paucity of research on the impact of PRP on rheumatic disease. Conclusion: This study aims to summarize and evaluate the current research concerning the use of PRP in rheumatic disease.
MeSH term(s)	Child ; Humans ; Retrospective Studies ; Rheumatic Diseases/therapy ; Orthopedic Procedures ; Ligaments ; Platelet-Rich Plasma
Language	English
Publishing date	2023-04-20
Publishing country	United Arab Emirates
Document type	Journal Article
ISSN	1875-6360
ISSN (online)	1875-6360
DOI	10.2174/1573397119666230420112017
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Article: Diagnosis and Management of Atypical Chronic Myeloid Leukemia with a t(2;13)(q33;q12) Translocation.

Wang, John S / Elghawy, Omar / Kurpiel, Brett R / Douvas, Michael G

Case reports in hematology

2022 Volume 2022, Page(s) 4628183

Abstract: Atypical chronic myeloid leukemia (aCML) is a rare myeloproliferative disorder that shares clinical features with chronic myeloid leukemia but lacks the classic t(9;22) ...

Abstract	Atypical chronic myeloid leukemia (aCML) is a rare myeloproliferative disorder that shares clinical features with chronic myeloid leukemia but lacks the classic t(9;22)
Language	English
Publishing date	2022-05-04
Publishing country	United States
Document type	Case Reports
ZDB-ID	2627639-2
ISSN	2090-6579 ; 2090-6560
ISSN (online)	2090-6579
ISSN	2090-6560
DOI	10.1155/2022/4628183
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Article: Complete Response of Triple-Negative Metaplastic Carcinoma of the Breast Using Pembrolizumab.

Ladwa, Amrita / Elghawy, Omar / Schroen, Anneke / Abernathy, Kristan / Schlefman, Jenna / Dillon, Patrick

Case reports in oncology

2023 Volume 16, Issue 1, Page(s) 1129–1135

Abstract: Metaplastic breast cancer (MpBC) is a rare form of breast malignancy with a poor prognosis and limited treatment guidance. Here, we report on a case of triple-negative MpBC that was successfully treated following the Keynote-522 clinical algorithm using ... ...

Abstract	Metaplastic breast cancer (MpBC) is a rare form of breast malignancy with a poor prognosis and limited treatment guidance. Here, we report on a case of triple-negative MpBC that was successfully treated following the Keynote-522 clinical algorithm using pembrolizumab, paclitaxel, carboplatin, adriamycin, and cyclophosphamide in a neo-adjuvant fashion. The radiographic and histologic findings of the tumor are reviewed here along with the treatment regimen and response. No major toxicities associated with pembrolizumab were observed in this case. This case report serves as an example of complete pathological response of triple-negative MpBC with pembrolizumab plus chemotherapy and demonstrates the need for further research on chemoimmunotherapy for MpBC.
Language	English
Publishing date	2023-10-16
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2458961-5
ISSN	1662-6575
ISSN	1662-6575
DOI	10.1159/000534146
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Article ; Online: Impact of Opioid Use on Duration of Therapy and Overall Survival for Patients with Advanced Non-Small Cell Lung Cancer Treated with Immune Checkpoint Inhibitors.

Young, Philip / Elghawy, Omar / Mock, Joseph / Wynter, Emmett / Gentzler, Ryan D / Martin, Linda W / Novicoff, Wendy / Hall, Richard

Current oncology (Toronto, Ont.)

2024 Volume 31, Issue 1, Page(s) 260–273

Abstract: Immune checkpoint inhibitors (ICI) have significantly improved outcomes in advanced non-small cell lung cancer (NSCLC). We evaluated the effect of opioid use on outcomes in patients receiving ICI either alone or with chemotherapy. We conducted a ... ...

Abstract	Immune checkpoint inhibitors (ICI) have significantly improved outcomes in advanced non-small cell lung cancer (NSCLC). We evaluated the effect of opioid use on outcomes in patients receiving ICI either alone or with chemotherapy. We conducted a retrospective review of 209 patients with advanced NSCLC who received an ICI at the University of Virginia between 1 February 2015 and 1 January 2020. We performed univariate and multivariate analyses to evaluate the impact of opioid use on duration of therapy (DOT) and overall survival (OS). Patients with no or low opioid use (n = 172) had a median DOT of 12.2 months (95% CI: 6.9-17.4) compared to 1.9 months (95% CI: 1.8-2.0) for those with high opioid use (n = 37, HR 0.26 95% CI: 0.17-0.40,
MeSH term(s)	Humans ; Carcinoma, Non-Small-Cell Lung/drug therapy ; Analgesics, Opioid/therapeutic use ; Immune Checkpoint Inhibitors ; Duration of Therapy ; Lung Neoplasms/drug therapy ; Opioid-Related Disorders
Chemical Substances	Analgesics, Opioid ; Immune Checkpoint Inhibitors
Language	English
Publishing date	2024-01-03
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1236972-x
ISSN	1718-7729 ; 1198-0052
ISSN (online)	1718-7729
ISSN	1198-0052
DOI	10.3390/curroncol31010017
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Article ; Online: LGL leukemia patients exhibit substantial protective humoral responses following SARS-CoV-2 vaccination.

Cheon, Heejin / Elghawy, Omar / Shemo, Bryna C / Feith, David J / Loughran, Thomas P

EJHaem

2022 Volume 3, Issue 3, Page(s) 919–923

Abstract: Large granular lymphocyte leukemia is a rare chronic lymphoproliferative disorder of cytotoxic cells. Other hematological malignancies such as CLL and multiple myeloma have been associated with poor vaccination response and markedly increased severe ... ...

Abstract	Large granular lymphocyte leukemia is a rare chronic lymphoproliferative disorder of cytotoxic cells. Other hematological malignancies such as CLL and multiple myeloma have been associated with poor vaccination response and markedly increased severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mortality rates, specifically in patients who have undergone immunosuppressive therapy. Given the immunosuppressive therapies often used to treat the disease, large granular lymphocytic (LGL) patients may be especially vulnerable to SARS-CoV-2 infection. A questionnaire was sent to all patients in the LGL Leukemia Registry at the University of Virginia (UVA) to obtain information on vaccination status, type of vaccine received, side effects of vaccination, patient treatment status before, during, and after vaccination, antibody testing, history of coronavirus disease 2019 (COVID-19) infection, and presence or absence of booster vaccination. Antibody testing of 27 patients who had quantitative SARS-CoV-2 Spike Protein IgG levels determined by University of Virginia medical laboratories via the Abbott Architect SARS-CoV-2 IgG II assay were collected. The assay was scored as reactive at a threshold of ≥50.0 AU/mL or nonreactive with a threshold of <50.0 AU/mL. LGL patients without treatment as well as patients who held treatment prior to their vaccination have a robust humoral response to SARS-CoV-2 vaccines. Patients who did not hold their immunosuppressive treatments have signifigantly diminished vaccine response compared to those who held their immunosuppressive treatment. Our findings support a dual strategy of pausing immunotherapy during the vaccination window and administration of the SARS-CoV-2 booster to all LGL leukemia patients to maximize protective antibodies.
Language	English
Publishing date	2022-05-31
Publishing country	United States
Document type	Journal Article
ISSN	2688-6146
ISSN (online)	2688-6146
DOI	10.1002/jha2.472
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Article ; Online: Multiple evanescent white dot syndrome-like reaction associated with ipilimumab and nivolumab immune checkpoint inhibitor therapy for metastasis of choroidal melanoma.

Duong, Ryan T / Ambati, Naveen R / Peddada, Krishi V / Elghawy, Omar / Gaughan, Elizabeth M / Shildkrot, Yevgeniy

American journal of ophthalmology case reports

2022 Volume 25, Page(s) 101351

Abstract: Purpose: To present a rare case of multiple evanescent white dot syndrome (MEWDS)-like presentation associated with immune checkpoint inhibitor therapy for metastatic choroidal melanoma.: Observations: A 67-year-old non-myopic Caucasian female ... ...

Abstract	Purpose: To present a rare case of multiple evanescent white dot syndrome (MEWDS)-like presentation associated with immune checkpoint inhibitor therapy for metastatic choroidal melanoma. Observations: A 67-year-old non-myopic Caucasian female presented with bilateral worsening vision, flashes, and floaters after receiving two doses of ipilimumab and nivolumab for metastatic class 2 peripheral choroidal melanoma. Fundus imaging of the right eye revealed hypopigmented, extra-foveal scattered chorioretinal lesions with foveal granularity. Fluorescein angiogram and autofluorescence of the right eye demonstrated corresponding hyperfluorescent and hyperautofluorescent lesions in a wreath-like configuration. Optical coherence tomography of the right eye revealed subretinal fluid. Due to concurrent systemic side effects, checkpoint inhibitor therapy was paused and the patient was started on oral prednisone. At her one month follow up visit, her vision in her right eye returned to baseline and subretinal fluid resolved. Conclusions: This is the first reported case of a MEWDS-like chorioretinopathy after two cycles of ipilimumab/nivolumab therapy for metastatic choroidal melanoma. As immune checkpoint inhibitor therapy is still an evolving field, more research is needed to characterize ocular side effect profiles of these agents.
Language	English
Publishing date	2022-01-31
Publishing country	United States
Document type	Case Reports
ISSN	2451-9936
ISSN (online)	2451-9936
DOI	10.1016/j.ajoc.2022.101351
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Article ; Online: Effect of surgical timing in 23-g pars plana vitrectomy for primary repair of macula-off rhegmatogenous retinal detachment, a retrospective study.

Elghawy, Omar / Duong, Ryan / Nigussie, Amen / Bogaard, Joseph D / Patrie, James / Shildkrot, Yevgeniy

BMC ophthalmology

2022 Volume 22, Issue 1, Page(s) 136

Abstract: Background: Rhegmatogenous retinal detachment (RRD) is a common, potentially blinding ocular pathology that is considered a surgical emergency. Macular involvement has been identified as a major negative prognostic indicator for visual recovery after ... ...

Abstract	Background: Rhegmatogenous retinal detachment (RRD) is a common, potentially blinding ocular pathology that is considered a surgical emergency. Macular involvement has been identified as a major negative prognostic indicator for visual recovery after RRD correction. It is not currently clear whether early intervention improves visual outcomes, and in practice, there are potential disadvantages to performing early surgery for fovea-involving RRD. Such disadvantages include inadequate assessment of coexisting comorbidities, increased rate of complications related to poorly trained staff or tired surgeons, and anesthetic risk. Methods: A single-center, retrospective, cohort study of patients who underwent repair of macula-involving rhegmatogenous retinal detachment at the University of Virginia was performed. Variables collected included patient demographics, ocular history, clinical characteristics, and post-operative complications. Patients were excluded if they had a history of congenital or acquired pathology with an effect on visual function, bilateral or repeat rhegmatogenous detachment, age less than 18 years, follow up duration less than 6 months, or if they were repaired using scleral buckle, pneumatic retinopexy, 25- or 27-gauge pars plana vitrectomy, or any combination of these techniques. A multivariate regression model was used to compare overall outcomes such as post-operative visual acuity, intra-ocular pressure, retina attachment status, and complications among patients of differing timing of surgical repair. These analyses were adjusted for clinical factors known or considered to be associated with worse prognosis in rhegmatogenous retinal detachment. Results: A total of 104 patients undergoing 23-gauge vitrectomy for repair of macula involving rhegmatogenous retinal detachments were included in this study with mean follow up period 17.9 ± 14.1 months. Early surgical repair (< 48 h) was pursued in 26 patients, moderately delayed surgical repair (3-7 days), was performed in 29 patients and late surgical repair (> 7 days) in 49 patients. Our analysis showed no difference in post-operative visual acuity between patients with detachments undergoing early versus moderately delayed repair of RRD. However, mean visual acuity differed between patients undergoing early versus late repair at 3, 6, and 12 months. No significant difference was observed in post-operative complications between the three surgical timepoints including cataract formation, development of glaucoma and re-detachment rate. Use of 360 laser was found to be protective against re-detachment overall (OR 6.70 95% CI 1.93-23.2). Conclusions: These findings indicate that a moderate delay of 3-7 days from symptom onset for repair of macula-involving retinal detachment may be a safe approach as there are no differences in terms of visual acuity or post-operative complications compared to early repair within 48 h. Delaying surgery for > 7 days however is not recommended due to the loss of recovery of visual acuity observed in this study. Use of 360 laser may prevent risk of re-detachment after primary repair.
MeSH term(s)	Adolescent ; Cohort Studies ; Humans ; Macula Lutea/pathology ; Retinal Detachment/diagnosis ; Retrospective Studies ; Vitrectomy/methods
Language	English
Publishing date	2022-03-25
Publishing country	England
Document type	Journal Article
ZDB-ID	2050436-6
ISSN	1471-2415 ; 1471-2415
ISSN (online)	1471-2415
ISSN	1471-2415
DOI	10.1186/s12886-022-02364-4
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