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2 de may. de 2024 · Relapsing polychondritis is a rare inflammatory disease characterized by recurrent inflammation of cartilaginous structures, mainly of the ears, nose and respiratory tract, with a broad spectrum of...
20 de abr. de 2024 · El síndrome de DiGeorge, o síndrome de deleción 22q11.2, es una afección que se ocasiona cuando falta una pequeña parte del cromosoma 22. Esta deleción hace que varios sistemas corporales no se desarrollen bien. El término síndrome de deleción 22q11.2 abarca términos que antes se consideraban afecciones diferentes.
Hace 3 días · Posterior reversible encephalopathy syndrome (PRES), also known as reversible posterior leukoencephalopathy syndrome (RPLS), is a neurotoxic state that occurs secondary to the inability of the posterior circulation to autoregulate in response to acute changes in blood pressure.
26 de abr. de 2024 · A rare genetic variant that causes short stature in Laron syndrome may also extend people's lives by protecting them from heart disease. By Clare Wilson. 26 April 2024. Two of the researchers...
22 de abr. de 2024 · The phenotypic range of PUF60 variants that cover CFM and Verheij syndrome is expanded, and the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the ...
Hace 6 días · Next: Pathophysiology. Osler-Weber-Rendu disease (OWRD) is a rare autosomal dominant disorder that affects blood vessels throughout the body (causing vascular dysplasia) and results in a...
22 de abr. de 2024 · Bernard–Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion. International Journal of Hematology 2024-04-16 ... Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome. International Journal of Hematology 2023-04 | Journal article DOI: 10.1007/s12185-022 ...
