1 citations
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November 2021 in “Translational pediatrics” This meta-analysis reported no significant improvement in muscle strength or mobility with glucocorticoid treatment for progressive muscular dystrophy but observed an increase in adverse effects like acne and emotional irritability.
6 citations
,
November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
2 citations
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June 2017 in “Journal of Evidence Based Medicine and Healthcare” This study found diverse clinical presentations in patients with newly detected connective tissue disease, highlighting the diagnostic and prognostic importance of cutaneous features.
April 2019 in “Journal of Investigative Dermatology” This study reported that mSKPs and DMSCs share similarities in biological characteristics but exhibit distinct transcriptome profiles, with mSKPs being more immune-related and DMSCs more associated with differentiation and disease pathways.
11 citations
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May 2010 in “Journal of the South African Veterinary Association” This case report describes how a treatment with mycophenolate mofetil and prednisone may be effective in managing autoimmune subepidermal blistering dermatosis in dogs while allowing for steroid reduction.
June 2026 in “Clinical Case Reports” This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.
4 citations
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August 2021 in “Pediatrics in review” This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
6 citations
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March 1991 in “Journal of Radioanalytical and Nuclear Chemistry” Manganese levels in hair may be linked to multiple sclerosis.
3 citations
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March 2021 in “Indian Journal of Rheumatology” This study presents a case where telemedicine allowed for early detection of a dermatomyositis flare during the COVID-19 pandemic using simple patient-reported measures, despite challenges in remote assessment.
28 citations
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November 2013 in “The FASEB journal” In this study, a low-methionine diet significantly improved the health and physical traits of cystathionine β-synthase-deficient mice, contrasting with negative effects on mice with partial deficiency.
6 citations
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October 2011 in “ISRN Ophthalmology” This study found that increased serum testosterone and dehydroepiandrosterone sulphate levels may serve as diagnostic markers for seborrheic meibomian gland dysfunction in both genders.
April 2026 in “Scientific Reports” In this study, the proposed MSF-VMDNet, combining dual encoder networks with a multi-frequency domain mechanism, significantly outperformed existing methods in segmenting skin cancer tissues from histological slide images, achieving high accuracy with an MIoU of 95.37% and a Dice coefficient of 95.11%.
18 citations
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February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
October 1966 in “Archives of Dermatology” This abstract reports no research results and details a case presentation of a 19-year-old woman with alopecia universalis treated with DMSO/Fluocinolone Acetonide, providing no new clinical findings.
7 citations
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December 2024 in “International Journal of Pharmaceutics” In this study, researchers developed a new method for producing dissolving microneedle array patches containing mesoporous silica nanoparticles, successfully confirming nanoparticle deposition and release in both ex vivo and in vivo models.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that dissolving microneedle array patches containing mesoporous silica nanoparticles can deliver antigen-loaded nanoparticles into mice effectively, inducing strong immune responses similar to traditional subcutaneous injection.
1 citations
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January 2008 in “SKINmed Dermatology for the Clinician” This case report describes a patient with mucous membrane pemphigoid who experienced recurrent blisters and cicatricial alopecia, showing improvement with prednisolone and dapsone treatment.
January 2025 in “JCEM Case Reports” In this case report, researchers described a patient with Cushing's Disease exhibiting no detectable mass, where Metyrapone therapy was effectively used to manage symptoms, suggesting a treatment option for similar diagnostic challenges.
January 2025 in “Indian Dermatology Online Journal” This case report highlights an unusual presentation of mycosis fungoides with photo-exacerbated lesions and a rare CD4+/CD8+ immunohistochemical phenotype, complicating diagnosis and treatment.
2 citations
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November 2025 in “Pharmaceutics” This review explores the potential of cell-mediated drug delivery systems in dermatology, highlighting their ability to target inflamed or diseased skin while discussing applications in diseases like atopic dermatitis and melanoma, along with challenges such as immunogenicity and manufacturing.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
November 2022 in “CARDIOMETRY” This article discusses the potential benefits of GcMAF and oral MAF, developed by "Saisei Mirai", for cancer and other conditions, but reports no new clinical results.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
36 citations
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November 2000 in “Journal of the American Academy of Dermatology” This case study describes a unique patient with dermatomyositis who exhibited features of pityriasis rubra pilaris and porokeratosis, suggesting markers for malignancy warranting thorough investigation and monitoring.
July 2026 in “Dermatology and Therapy” This study highlights that dissecting cellulitis of the scalp affects a diverse racial population and is associated with male sex, metabolic dysfunction, and psychiatric comorbidities, challenging its traditional characterization as primarily a disorder of Black men.
May 2025 in “The Journal of Rheumatology” This case report describes a 47-year-old woman with dilated cardiomyopathy as the first sign of primary antiphospholipid syndrome, highlighting the need for APS screening in similar patient presentations.
In this case report, the researchers highlight a possible association between myotonic dystrophy type 1 and multiple tongue hemangiomas, and emphasize that patients with this condition can experience exacerbated respiratory muscle weakness and risk of respiratory failure even with epidural anesthesia.
1 citations
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May 2023 in “Dermatological Reviews” This review highlights that dermatologists are likely to develop work-related musculoskeletal disorders due to the nature of their work, but limited research exists on this issue and potential ergonomic solutions.