For many rare diseases, doctors have nothing to offer in the way of specific treatments to alter the disease. A new public- private partnership aims to address this problem.
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http://dx.doi.org/10.1371/journal.pmed.0020243 | DOI Listing |
Am J Case Rep
December 2024
Division of Respirology, Rheumatology, Infectious Diseases, and Neurology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Kiyotake, Miyazaki, Japan.
BACKGROUND Fibrosing mediastinitis (FM) is a rare, fibroproliferative disorder within the mediastinum. It is extremely rare for hematologic malignancies to develop as FM. CASE REPORT A 32-year-old Japanese man with a 1-month history of headache and 2-week history of facial swelling underwent chest computed tomography (CT); a diffuse mass-like lesion was revealed in the anterior mediastinum with severe stenosis of vital mediastinal organs.
View Article and Find Full Text PDFFront Cardiovasc Med
December 2024
Department of Cardiology, The First Affiliated Hospital of Shandong First Medical University, Shandong First Medical University, Shandong, China.
It is unusual for young patients without any underlying diseases to experience sudden cerebral infarction and heart failure. Here, we report a rare case of a 28-year-old female patient who presented with chest tightness and dizziness. Left ventricular thrombus formation and cardiac insufficiency were evident on echocardiogram, while multiple acute or subacute cerebral infarctions were visible on brain magnetic resonance imaging.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Recordati Rare Diseases, Central and Eastern Europe, Warsaw, Poland.
Pasireotide is an effective treatment for both Cushing's disease (CD) and acromegaly due to its ability to suppress adrenocorticotropic hormone and growth hormone, and to normalize insulin-like growth factor-1 levels, resulting in tumor shrinkage. However, it may also cause hyperglycemia as a side effect in some patients. The aim of this study was to review previous recommendations regarding the management of pasireotide-induced hyperglycemia in patients with CD and acromegaly and to propose efficient monitoring and treatment algorithms based on recent evidence and current guidelines for type 2 diabetes treatment.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Department of Endocrinology and Metabolism, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China.
Short stature, joint hyperextension, ocular hypotension, Rieger abnormalities, and delayed tooth eruption (SHORT) syndrom is a rare primary autosomal dominant genetic disorder mainly caused by pathogenic loss-of-function variants in the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene. We report the case of a Chinese adult female patient with SHORT syndrome, carrying a PIK3R1 gene variant (c.1945C > T), who developed abnormal glucose metabolism and severe postprandial insulin resistance over 9 years.
View Article and Find Full Text PDFFront Immunol
December 2024
Department of Neurology, University Hospital Ulm, Ulm, Germany.
Introduction: Very rarely, adult NMDAR antibody-associated encephalitis (NMDAR-E) leads to persistent cerebellar atrophy and ataxia. Transient cerebellar ataxia is common in pediatric NMDAR-E. Immune-mediated cerebellar ataxia may be associated with myelin oligodendrocyte glycoprotein (MOG), aquaporin-4 (AQP-4), kelch-like family member 11 (KLHL11), and glutamate kainate receptor subunit 2 (GluK2) antibodies, all of which may co-occur in NMDAR-E.
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