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Efficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature.
Endocr J
January 2025
Division of Diabetes and Endocrinology, Kobe University Hospital, Kobe 650-0017, Japan.
The use of asfotase alfa, a bone-targeted recombinant alkaline phosphatase (ALP) enzyme, for the treatment of adult-onset hypophosphatasia (HPP) remains controversial, particularly in patients without evident bone abnormalities. We report the case of a 41-year-old woman with a history of Graves' disease, who presented with progressive joint pain and severe fatigue. Despite the absence of bone lesions, the patient was diagnosed with HPP based on persistently low alkaline phosphatase levels, family history, and a novel heterozygous ALPL variant (p.
View Article and Find Full Text PDFFirst case of hyperpigmentation in vitiligo after use of methimazole in a patient with Graves' disease.
An Bras Dermatol
January 2025
Department of Dermatology, Hospital das Clínicas, Faculty of Medicine, Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address:
Lupus and inflammatory bowel disease share a common set of microbiome features distinct from other autoimmune disorders.
Ann Rheum Dis
January 2025
Meinig School of Biomedical Engineering, Cornell University, Ithaca, New York, USA. Electronic address:
Objectives: This study aims to elucidate the microbial signatures associated with autoimmune diseases, particularly systemic lupus erythematosus (SLE) and inflammatory bowel disease (IBD), compared with colorectal cancer (CRC), to identify unique biomarkers and shared microbial mechanisms that could inform specific treatment protocols.
Methods: We analysed metagenomic datasets from patient cohorts with six autoimmune conditions-SLE, IBD, multiple sclerosis, myasthenia gravis, Graves' disease and ankylosing spondylitis-contrasting these with CRC metagenomes to delineate disease-specific microbial profiles. The study focused on identifying predictive biomarkers from species profiles and functional genes, integrating protein-protein interaction analyses to explore effector-like proteins and their targets in key signalling pathways.
Novel perspectives on the pharmacological treatment of thyroid-associated ophthalmopathy.
Front Endocrinol (Lausanne)
January 2025
No. 1 Teaching Hospital, Norman Bethune College of Medicine, Jilin University, Changchun, Jilin, China.
Thyroid-associated ophthalmopathy (TAO), an autoimmune disease closely related to thyroid dysfunction, remains a challenging ophthalmic condition among adults. Its clinical manifestations are complex and diverse, and disease progression can lead to exophthalmos, diplopia, exposure keratitis, corneal ulceration, and compressive optic neuropathy, resulting in irreversible vision damage or even blindness. Traditional treatment methods for TAO, including glucocorticoids, immunosuppressants, and radiation therapy, often have limitations and side effects, making this disease problematic in ophthalmology.
View Article and Find Full Text PDFSystemic Lupus Erythematosus Presenting as Anorexia Nervosa in a Middle-Aged Woman: A Rare Case Report and Literature Review.
Immun Inflamm Dis
January 2025
Department of Internal Medicine, Al-Khor Hospital, Hamad Medical Corporation, Doha, Qatar.
Background: Systemic lupus erythematosus (SLE) is a complex autoimmune disease with multisystemic involvement and unclear etiology. Although SLE could be linked to multiple neuropsychiatric manifestations, the co-occurrence of anorexia nervosa was only described through a few case reports that mainly affected children and adolescents.
Case Presentation: a 40-year-old Filipina woman presented to hospital with a 3-day history of agitation, anorexia and auditory hallucinations.
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