Results 11 to 20 of about 1,336,426 (267)
Anaemia in Waldmann’s disease: A rare presentation of a rare disease
World Journal of Gastrointestinal Endoscopy, 2015 A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid profile, ascitic fluid analysis, test of stool for occult blood and alpha 1 anti-trypsin.
Shahira A, El-Etreby +5 more
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Rare Autoinflammatory Diseases
Turkish Archives of Pediatrics, 2021 Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
Başaran, Özge +2 more
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Laryngo- rhino- otologie, 2021 This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it represents a relatively small area of the body the orbit contains multiple different tissues. Therefore, a great variety of diseases can be found within the orbital space.
Kisser, Ulrich +2 more
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Overview of patients’ cohorts in the French National rare disease registry
Orphanet Journal of Rare Diseases, 2023 In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded using the Orphanet nomenclature.
Thibaut Pichon +7 more
doaj +1 more source
Analytical Cellular Pathology, 2023 Currently, 80%–90% of liver cancers are hepatocellular carcinomas (HCC). HCC patients develop insidiously and have an inferior prognosis. The methyltransferase-like (METTL) family principal members are strongly associated with epigenetic and tumor ...
Haoyu Wang +6 more
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romanian journal of ophthalmology, 2019 Rare ocular pathology has an important impact on the quality of life of patients because often the damage is bilateral and, although asymmetric, causes a significant decrease in visual acuity. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis,
Elena Angelica, Sburlan +9 more
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Drug target gene-based analyses of drug repositionability in rare and intractable diseases
Scientific Reports, 2021 Drug development for rare and intractable diseases has been challenging for decades due to the low prevalence and insufficient information on these diseases. Drug repositioning is increasingly being used as a promising option in drug development.
Ryuichi Sakate, Tomonori Kimura
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Biomarkers in Rare Diseases [PDF]
International Journal of Molecular Sciences, 2021 There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...]
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Consensus of Multidisciplinary Management on Hereditary Transthyretin Amyloidosis
罕见病研究Hereditary transthyretin amyloidosis(ATTRv) is a rare autosomal dominant multisystem disease caused by pathogenic variations in the TTR gene, mainly affecting peripheral nerves, heart, digestive tract, eyes, kidneys, and leptomeninges, among others.
Rare Disease Branch of Chinese Medical Association +1 more
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Orphanet Journal of Rare Diseases, 2022 Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA).
Amanda Mortensen +2 more
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