Publications by authors named "Cowen E"
Objective: To investigate the effects of oral baricitinib on ocular surface disease (OSD) in patients with chronic graft-versus-host disease (cGVHD).
Design: Prospective phase 1 to 2 single institution trial.
Subjects: Eighteen patients with ocular graft-versus-host-disease (oGVHD) and systemic steroid-refractory cGVHD.
Article Synopsis
- Cutaneous chronic graft-versus-host disease (cGVHD) frequently occurs after hematopoietic stem cell transplants, leading to significant health issues and a lower quality of life for affected individuals.
- The condition can present in varied ways, categorized into nonsclerotic and sclerotic types, with specific challenges noted for patients with skin of color.
- Effective management requires collaboration between transplant specialists and dermatologists, emphasizing the importance of proper diagnosis, treatment, and ongoing skin care for long-term recovery.
Article Synopsis
- - Patients with GATA2 haploinsufficiency face higher risks for HPV-related anogenital cancers, with the study showing that HPV appeared at a median age of 18.9 in females and 25.6 in males, often leading to significant health issues.
- - The research conducted a thorough review of 68 patients over 17 years, revealing that 76% had HPV-related squamous intraepithelial lesions (SIL), with females showing a higher prevalence and severity of high-grade lesions compared to males.
- - Among patients receiving hematopoietic stem cell transplants for GATA2-linked diseases, some still experienced persistent HPV issues post-treatment; however, those who received vaccinations afterward showed minimal evidence
Article Synopsis
- * The research found that tissue samples from patients showed strong IFN-I (a type of immune response) activity and signs of inflammation, even when the virus was only minimally present in biopsies.
- * Additionally, an experiment using hamsters demonstrated that while the virus was active in the lungs, local IFN-I responses occurred in other areas (like toes) without the body developing traditional immunity to the virus, suggesting a potential viral trigger for some pernio cases.
Article Synopsis
- VEXAS syndrome is a genetic disorder that causes bone marrow failure and systemic inflammation, which can lead to a higher risk of infections for affected patients.
- In a study of 94 patients with VEXAS, 6% developed pneumonia (PJP), 15% experienced reactivation of the alphaherpesvirus, and 10% had non-tuberculous mycobacterial infections.
- The research found that developing PJP or NTM significantly increases the risk of death, while prophylactic treatments for these infections were shown to be highly effective in reducing infection rates.
Fanconi anemia (FA) is an inherited bone marrow failure syndrome (IBMFS) characterized by pathogenic variants in the FA/BRCA DNA repair pathway genes. Individuals with FA have an elevated risk of developing myelodysplastic syndrome, acute myeloid leukemia, and solid tumors. Hematopoietic cell transplantation (HCT) is the most effective treatment for FA related bone marrow failure but can increase the risk of cancer development.
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- VEXAS syndrome is a genetic disease primarily affecting older men, characterized by systemic inflammation, bone marrow failure, and skin issues, with an estimated prevalence of 1 in 4269 men over 50.
- A study of 112 patients revealed that 83% experienced skin involvement, making it a common symptom, with various histopathologic findings indicating conditions like leukocytoclastic vasculitis and neutrophilic dermatosis.
- Specific genetic variants were linked to different skin manifestations; treatment with oral prednisone was effective in improving skin symptoms for a majority of patients.
Article Synopsis
- BAP1 tumor predisposition syndrome (TPDS) is linked to an increased risk for several types of cancer, making early detection crucial for patients and their families.
- A study examined nail abnormalities in 47 individuals with known BAP1 variants, revealing that 87.2% of participants had some form of nail issue, including leukonychia and onychopapilloma.
- The findings highlight the prevalence of nail abnormalities among BAP1 TPDS patients, suggesting that these changes could serve as a clinical indicator for further evaluation and monitoring of cancer risk.
Article Synopsis
- Chronic graft-versus-host disease (cGVHD) is a serious skin complication that can occur after allogeneic stem cell transplants, and the study aimed to explore its underlying causes and variations.
- Researchers identified 17 genes that were significantly active in the skin of cGVHD patients, linking the disease to immune and fibrotic pathways, and discovered different patient groups based on gene expression patterns.
- The study also found that certain protein levels in the blood mirrored those in the skin, indicating potential biomarkers that could help with diagnosis and treatment of sclerotic cGVHD.
Article Synopsis
- Pediatric cutaneous T-cell lymphoma with a γδ immunophenotype is very rare, with only a few cases documented.
- This study presents three unique cases of pediatric cutaneous T-cell neoplasms featuring increased γδ T cells, which may behave differently from adult cases.
- All of the cases observed had an indolent, or slow-growing, clinical course.
Article Synopsis
- Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome is a recently identified acquired disorder that causes widespread systemic issues and has a generally poor prognosis.* -
- Dermatologists are crucial in identifying this condition due to the prevalence of skin lesions in affected individuals, which can aid in better disease management and treatment strategies.* -
- As more is learned about the disorder, it's important for dermatologists to help fill the existing knowledge gaps to improve overall care for patients.*
Introduction: Sweet syndrome (SS) is well known to be associated with underlying hematologic malignancies. The incidence and qualities of SS among novel targeted therapies for acute myeloid leukemia (AML) have not yet been described.
Methods: Through retrospective review of 19,432 patients diagnosed with acute/chronic leukemia or myelodysplastic syndromes/myeloproliferative neoplasms (MDS+/-MPN) over 28 years, we calculated the incidence of SS in the setting of select hematologic malignancies and described the clinicopathologic characteristics of SS in patients with onset of SS after initiation of novel AML-targeted therapies.
Article Synopsis
- Deleterious RUNX1 variants cause familial platelet disorder with myeloid malignancy (FPDMM), leading to symptoms like low platelet counts, dysfunctional platelets, and increased risk of blood cancers.
- A study enrolled 214 participants from 2019 to 2021, revealing that many patients experienced thrombocytopenia and other blood abnormalities; some also had blood malignancies like leukemia.
- Findings emphasize the need for a multidisciplinary approach to detect and manage these inherited disorders, aiming to improve understanding of FPDMM and guide future treatments.
Article Synopsis
- A study evaluated 229 adult patients with chronic graft-versus-host disease (cGVHD) for the prevalence and impact of metabolic syndrome (MetS), finding that 54.1% met the diagnostic criteria for MetS.
- Patients with higher body mass index and poorer performance status were more likely to have MetS, along with specific inflammatory and kidney function markers indicating its presence.
- Despite the high prevalence of MetS, there were no significant differences in survival rates or cGVHD severity between patients with and without MetS, suggesting the need for proactive screening to prevent future complications.
BACKGROUNDWarts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous gain-of-function CXCR4 mutations. Myelokathexis is a kind of neutropenia caused by neutrophil retention in bone marrow and in WHIM syndrome is associated with lymphopenia and monocytopenia. The CXCR4 antagonist plerixafor mobilizes leukocytes to the blood; however, its safety and efficacy in WHIM syndrome are undefined.
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- A study was conducted on kidney complications specifically among patients with chronic graft-versus-host disease (cGVHD) who underwent allogeneic hematopoietic stem cell transplants, involving 365 participants.
- Out of the participants, 64 experienced kidney dysfunction, with 29 having moderate to severe issues, and those with dysfunction were more likely to have been treated with cyclosporine.
- The analysis indicated that factors like cyclosporine use and protein levels were associated with kidney dysfunction, and lower overall survival was noted in patients with moderate-severe kidney issues, highlighting the need for better management of kidney health in these patients.
Article Synopsis
- The study validated the accuracy of an open-source AI algorithm for diagnosing melanoma, assessing its sensitivity and specificity based on skin lesion images from 435 participants.
- The AI showed a sensitivity of 96.8% at a threshold of 95%, while dermatologists' accuracy in assessing melanoma risk improved after reviewing the AI's findings.
- The results indicate the AI's potential to enhance decision-making in dermatology, though further larger trials are necessary to integrate it into clinical practice.
Article Synopsis
- The study aimed to identify the clinical features and genetic basis of a familial cancer syndrome linked to lipomas, fibrofolliculomas, and kidney cancer in affected patients.
- Genomic analysis revealed a pathogenic variant in the PRDM10 gene, which is associated with a severe form of bilateral, multifocal papillary renal cell carcinoma and affects the expression of other related genes.
- The findings suggest those with specific skin manifestations and subcutaneous lipomas should be tested for PRDM10 variants, and kidney tumors in these individuals should be treated with surgical removal rather than merely monitored.
Facial reconstruction is a complex surgical process that requires intricate three-dimensional (3D) concepts for optimal functional and aesthetic outcomes. Conventional reconstruction of structural facial anomalies, such as those including cartilage or bony defects, typically rely on hand-carving autologous constructs harvested from a separate donor site, and shaping that cartilage or bone into a new structural framework. Tissue engineering has emerged in recent decades as a potential approach to mitigate the need for donor site morbidity while improving precision in the design of reconstructive construct.
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