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Congenital Factor VII Deficiency: A Case Study of Four Family Members.
Cureus
December 2024
Hematology, Avicenna Military Hospital, Marrakesh, MAR.
Congenital factor VII (FVII) deficiency is a rare genetic disorder with autosomal recessive inheritance, characterized by molecular and clinical heterogeneity. This article reports four Moroccan cases of FVII deficiency within the same family, two of which were associated with Gilbert's syndrome. The index case was a 15-year-old girl with a history of menorrhagia and jaundice.
View Article and Find Full Text PDFRole of interleukin-4 receptor α polymorphism in patients with asthma and its correlation with asthma severity.
Monaldi Arch Chest Dis
January 2025
Department of Respiratory Medicine, N.K.P. Salve Institute of Medical Sciences and Research Center, Lata Mangeshkar Hospital, Nagpur, Maharashtra.
Asthma is a heterogeneous disease characterized by chronic airway inflammation. It is defined by the history of respiratory symptoms such as wheeze, shortness of breath, chest tightness, and cough that vary over time and intensity, together with variable expiratory airflow limitation. A personal history or a family history of allergy is the factor most strongly associated with the development of asthma.
View Article and Find Full Text PDFFamilial Mediterranean fever in Romania: a case report and literature review.
Front Pediatr
January 2025
Faculty of Medicine and Pharmacy, University of Oradea, Oradea, Romania.
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever and systemic inflammation, most prevalent in Eastern Mediterranean populations. Rare in regions like Romania, FMF presents diagnostic challenges and risks severe complications if untreated. We report a 7-year-old Romanian girl, from a non-classical ethnic background, with recurrent febrile episodes and elevated inflammatory markers.
View Article and Find Full Text PDFLate-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.
Mol Genet Genomic Med
February 2025
Department of Orthopeadic Surgery, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, People's Republic of China.
Background: Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of the peripheral and central nervous. Late-onset KD is less frequently diagnosed and often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from peripheral neuropathy. In this report, we present two cases of late-onset KD in a Chinese family.
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