Rare diseases and undiagnosed diseases have recently positioned themselves as clinical entities that provide important opportunities to advance our understanding of gene functions and the impact of them in the individual development. In this review, we present how efforts made over years to understand common diseases, rare diseases and even undiagnosed diseases come together today to cooperatively advances scientific knowledge. These advance in science and new acquired knowledge, make possible to apply the advances obtained in a group of clinical conditions to others with similar phenotypic characteristics or vice versa. The cooperative work of multidisciplinary teams and the communication between clinicians and researchers have and will provide opportunities for better treatments for patients and families across multiple common and rare diseases.
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Viruses
January 2025
Centre for Virus Research, The Westmead Institute for Medical Research, Westmead 2145, Australia.
Anogenital inflammation is a critical risk factor for HIV acquisition. The primary preventative HIV intervention, pre-exposure prophylaxis (PrEP), is ineffective in blocking transmission in anogenital inflammation. Pre-existing sexually transmitted diseases (STIs) and anogenital microbiota dysbiosis are the leading causes of inflammation, where inflammation is extensive and often asymptomatic and undiagnosed.
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December 2024
NKC Institute of Gastroenterology and Hepatology, Songklanagarind Hospital, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand.
Hepatitis B virus (HBV) and hepatitis C virus (HCV) infections remain significant public health challenges in Asia, affecting millions and contributing to substantial morbidity and mortality. The prevalence of these infections varies across the region, with factors such as vaccination coverage, healthcare infrastructure, and sociocultural barriers influencing the epidemiology of both viruses. The persistent burden of chronic HBV, particularly in older populations, and the evolving HCV genotype landscape highlight the need for targeted, region-specific strategies.
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January 2025
Clinic of Nephrology, University Clinical Center of Serbia, Pasterova 2, 11000 Belgrade, Serbia.
Background: Undiagnosed and untreated atherosclerotic renal artery stenosis (ARAS) can result in end-stage kidney disease (ESKD). To obtain an accurate diagnosis, it is crucial to recognize the symptoms and signs suggesting renal artery stenosis (RAS) and perform appropriate diagnostic and treatment procedures afterward.
Case Presentation: We present a case of a 60-year-old female patient with hypertensive crisis, acute heart failure (HF), and pulmonary edema as the initial signs of acute kidney injury (AKI) caused by right RAS and left renal artery occlusion in the presence of severe aortic atherosclerosis revealed on computed tomography angiography (CTA) of the abdomen.
Medicina (Kaunas)
January 2025
Department of Health Science, University of Eastern Piedmont, 28100 Novara, Italy.
Congenital syphilis remains a significant global health concern, with severe morbidity and mortality if undiagnosed and untreated. Although many infants appear asymptomatic at birth, subtle clinical signs-including bullous lesions (congenital bullous syphilis, also known as pemphigus syphiliticus)-may facilitate early detection. Recognizing this rare manifestation is crucial for timely intervention, reducing serious outcomes.
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January 2025
Rochdale Care Organisation, Northern Care Alliance NHS Foundation Trust, Rochdale, England.
Background: One million patients are estimated to have undiagnosed chronic kidney disease (CKD) in England. Clinical coding in CKD is associated with improved management and lower acute kidney injury (AKI), unscheduled care and mortality risk. Primary care's role in coding CKD is well documented.
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