Three patients, two women aged 66 and 43 years, respectively, and a man aged 76 years, presented with sudden, painful, blue areas in the toes with intact peripheral pulsations. One patient had a myeloproliferative syndrome due to essential thrombocytosis, the second patient had thromboangiitis obliterans, and the third patient had a cholesterol embolism, possibly due to the use of oral anticoagulants. After treatment, one patient recovered fully and the other two improved significantly. The blue toe syndrome is the pathophysiological consequence of end-arterial occlusion and frequently the first manifestation of a systemic disorder, such as atheroembolism or vasculitis. Adequate treatment is possible in most cases. Therefore, it is very important to recognise this disorder and its possible causes so as to prevent further episodes of local symptoms and especially systemic complications.
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Int J Low Extrem Wounds
January 2025
Diabetic Foot Section, Pisa University Hospital, Pisa, Italy.
Euglycemic Diabetic ketoacidosis (E-DKA) is a life-threatening emergency characterized by ketonemia and metabolic acidosis in presence of relatively normal glycemic values. In recent years it has been associated with some predisposing conditions including sodium-glucose transporter 2 inhibitors (SGLT2-i) therapy, widely used in high-risk cardiovascular patients. We report the case of a 78-year-old diabetic woman treated with dapagliflozin, affected by critical limb threatening ischemia and septic osteoarthritis of interphalangeal joint of first right toe.
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Département de Psychiatrie, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Mr. X is a Swiss patient with Bainbridge-Ropers syndrome clinically and genetically diagnosed at the age of 28. He is also known to have severe intellectual disability, autism spectrum disorder and epilepsy since the age of 18.
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December 2024
Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, SP, Brazil.
Neurodevelopmental disorders (NDD) comprise clinical conditions with high genetic heterogeneity and a notable enrichment of genes involved in regulating chromatin structure and function. The EHMT1/2 epigenetic complex plays a crucial role in repression of gene transcription in a highly tissue- and temporal-specific manner. Mutations resulting in heterozygous loss-of-function (LoF) of EHMT1 are implicated in Kleefstra syndrome 1 (KS1).
View Article and Find Full Text PDFJ Med Case Rep
December 2024
Department of Pulmonology, Pius-Hospital Carl Von Ossietzky University, Oldenburg, Germany.
Background: Yellow nail syndrome is characterized by a yellow discoloration of the nails, respiratory symptoms, and lymphedema. It was first described in 1964 and has an estimated prevalence of less than 1:1.000.
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