Eur Ann Allergy Clin Immunol
October 2024
. Allergies represent a substantial health concern affecting individuals across all age groups. Diagnostic screenings, such as phadiatop and phadiatop infant, are employed to identify specific IgE antibodies associated with allergic reactions.
View Article and Find Full Text PDFHum Mol Genet
April 2024
Telomeres are nucleoprotein structures at the end of chromosomes that maintain their integrity. Mutations in genes coding for proteins involved in telomere protection and elongation produce diseases such as dyskeratosis congenita or idiopathic pulmonary fibrosis known as telomeropathies. These diseases are characterized by premature telomere shortening, increased DNA damage and oxidative stress.
View Article and Find Full Text PDFBackground: Andersen-Tawil syndrome type 1 is a rare heritable disease caused by mutations in the gene coding the strong inwardly rectifying K channel Kir2.1. The extracellular Cys (cysteine)-to-Cys disulfide bond in the channel structure is crucial for proper folding but has not been associated with correct channel function at the membrane.
View Article and Find Full Text PDFPrimary urethral carcinoma (PUC) is a rare disease with frequent nodal metastasis at the time of diagnosis. Few risk factors have been established and overall prognosis remains poor. As of now, no clear therapeutic guidelines are established and management of advanced PUC often involves surgery which can have negative functional and psychological outcomes for the patient.
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