Uromodulin: from physiology to rare and complex kidney disorders
Sign Up to like & getrecommendations! Published in 2017 at "Nature Reviews Nephrology"
DOI: 10.1038/nrneph.2017.101
Abstract: Uromodulin (also known as Tamm-Horsfall protein) is exclusively produced in the kidney and is the most abundant protein in normal urine. The function of uromodulin remains elusive, but the available data suggest that this protein… read more here.
Keywords: physiology rare; rare complex; physiology; complex kidney ... See more keywords
Congenital ichthyoses: there is always more to learn about managing these rare and complex diseases
Sign Up to like & getrecommendations! Published in 2019 at "British Journal of Dermatology"
DOI: 10.1111/bjd.17105
Abstract: and better selection of treatment modalities (surgical vs. nonsurgical). As with other noninvasive technologies, OCT is not perfect and carries a potential ‘blind-spot’: it lacks histology-like resolution that translates into a low specificity (~60%), as… read more here.
Keywords: congenital ichthyoses; learn managing; managing rare; ichthyoses always ... See more keywords
Exploring patient’s experience and unmet needs on pregnancy and family planning in rare and complex connective tissue diseases: a narrative medicine approach
Sign Up to like & getrecommendations! Published in 2022 at "RMD Open"
DOI: 10.1136/rmdopen-2022-002643
Abstract: Objective The aim of this work is to explore patient’ unmet needs of rare and complex rheumatic tissue diseases (rCTDs) patients during pregnancy and its planning by means of the narrative-based medicine (NBM) approach. Methods… read more here.
Keywords: medicine; tissue diseases; pregnancy; unmet needs ... See more keywords
Appendiceal Mucinous Neoplasm: Nurse Education About a Rare and Complex Disease.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical journal of oncology nursing"
DOI: 10.1188/20.cjon.409-414
Abstract: BACKGROUND Appendiceal mucinous neoplasms (AMNs) are a rare and complex spectrum of disease involving a mucinous tumor within the appendix, which can range from benign to malignant. If not limited to the appendix, the mucinous… read more here.
Keywords: mucinous neoplasm; appendiceal mucinous; nurse education; neoplasm nurse ... See more keywords
A 69-year-old man with rare complex visual symptoms.
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000010218
Abstract: A 69-year-oldmanwas admitted from the emergency department of our hospital for subacute onset of visual complaints. The evening before admission, around 10 PM, while watching TV, he experienced binocular and persistent discomposed colors in the… read more here.
Keywords: year old; year; old man; man rare ... See more keywords
Diagnosis of Hereditary TTP Caused by Homozygosity for a Rare Complex ADAMTS13 Allele After Salmonella Infection in a 43-Year-Old Asylum Seeker
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2021.639441
Abstract: A 43-year-old Armenian patient was diagnosed with salmonella infection and thrombotic microangiopathy (TMA). The clinical course was benign with resolution of all laboratory alterations after antibiotic treatment. Constantly deficient ADAMTS13 activity without ADAMTS13 inhibitors and… read more here.
Keywords: adamts13; homozygosity rare; salmonella infection; rare complex ... See more keywords
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.889997
Abstract: Background Patient registries play a crucial role in supporting clinical practice, healthcare planning and medical research, offering a real-world picture on rare and complex connective tissue diseases (rCTDs). ERN ReCONNET launched the first European Registry… read more here.
Keywords: tissue diseases; reconnet; connective tissue; tissue ... See more keywords