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Case report: Adult case of A20 haploinsufficiency suspected as neuro-Behçet disease.
Front Immunol
January 2025
Department of Rheumatology & Allergology, Japanese Red Cross Medical Center, Tokyo, Japan.
Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38-year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting.
View Article and Find Full Text PDFSWEET'S SYNDROME ASSOCIATED WITH PHEOCHROMOCYTOMA: A RARE CASE REPORT AND REVIEW OF LITERATURE.
Acta Endocrinol (Buchar)
January 2025
Municipal Clinical Hospital - Urology, Cluj-Napoca.
Background: Sweet's syndrome (SS) or acute febrile neutrophilic dermatosis is a dermatological illness that can be described by tender erythematous plaques or nodules and acute onset fever. The etiology is multifactorial and is not fully understood. SS is separated in three subclasses: classical, malignancy-associated, and drug-induced.
View Article and Find Full Text PDFCorrigendum: Viable but nonculturable state in the zoonotic pathogen induced by low-grade fever temperature and antibiotic treatment.
Front Cell Infect Microbiol
January 2025
Key Laboratory of Preclinical Study for New Drugs of Gansu Province, School of Basic Medical Sciences, Lanzhou University, Lanzhou, China.
[This corrects the article DOI: 10.3389/fcimb.2024.
View Article and Find Full Text PDFA patient with TPCN2-related hypopigmentation and ocular phenotype.
Eur J Hum Genet
January 2025
Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.
View Article and Find Full Text PDFA 34-Year-Old Man With Fragile Vessels and Recurrent Hemoptysis.
Chest
January 2025
National Center for Respiratory Medicine; State Key Laboratory of Respiratory Health and Multimorbidity; National Clinical Research Center for Respiratory Diseases; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, China. Electronic address:
A 34-year-old man who did not use tobacco complained of hemoptysis with a small volume, severe dry cough, and low-grade fever for 5 months. He denied dyspnea, chest pain, night sweats, or weight loss. Chest CT scanning showed nodules with a cavity in the lower left lung.
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