International Rare Diseases Research Consortium, Paris, France.
Published: November 2024
AI Article Synopsis
Article Abstract
Clinical research is an essential component to advance diagnosis and therapeutic development. In 2022, the International Rare Diseases Research Consortium (IRDiRC) and the European Joint Programme on Rare Diseases (EJP RD) brought together key stakeholders from across the globe to discuss common themes in clinical research networks (CRNs) for rare diseases. Various topics were raised during discussions including current state of CRNs, the need for new CRNs, multi-stakeholder perspectives on value of CRNs, and ways to collaborate on a global scale. Communication and coordination between various groups, taking advantage of existing experiences, can expedite establishment and execution of complex collaborations that will be necessary for CRNs. In this perspective, we discuss opportunities and highlight key considerations for developing successful collaborative CRNs across the globe.
Background: Duchenne muscular dystrophy (DMD) is a devastating disease characterized by progressive muscle wasting that leads to diminished lifespan. In addition to the inherent weakness of dystrophin-deficient muscle, the dysfunction of resident muscle stem cells (MuSC) significantly contributes to disease progression.
Methods: Using the mdx mouse model of DMD, we performed an in-depth characterization of disease progression and MuSC function in dystrophin-deficient skeletal muscle using immunohistology, isometric force measurements, transcriptomic analysis and transplantation assays.
Fibroepithelial polyps are rare benign tumors originating from the mesoderm and are more commonly found in the renal pelvis and distal ureter and less frequently in the proximal ureter or bladder. This case report presents a fibroepithelial polyp occurring in the bladder of the fetus, showcasing its two-dimensional ultrasound, three-dimensional ultrasound, color Doppler, and spectral Doppler ultrasound findings, providing a reference for the accurate diagnosis of this condition.
Invasive mucormycosis is an aggressive fungal infection characterized by rapid progression, primarily impacting immunocompromised individuals. Herein, we report a case of splenic infarction in association with gastrointestinal fistula and brain abscess as a rare presentation of mucormycosis biopsy, proven in a 56-year-old patient diagnosed with acute myeloid leukemia. The patient initially sought medical attention with a 3-week history of fever, night sweats, and malaise.
Background The demand for cosmetic procedures has increased significantly due to their positive effects on self-satisfaction. However, individuals often underestimate the potential complications associated with these procedures, driven by a strong desire for transformation. Therefore, this study aimed to evaluate the Madinah community's awareness of cosmetic procedures and plastic surgery, as well as to assess the risks, complications, and clinical outcomes associated with these procedures.
Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.
