Results 121 to 130 of about 36,766 (231)
ABSTRACT Background Lung cancer remains the leading cause of cancer‐related mortality worldwide, highlighting the urgent need for earlier detection within real‐world screening and patient management pathways. Recent advances in multi‐omics technologies have created new opportunities for identifying biomarkers associated with early‐stage lung cancer ...
Fan Bu, Zhi‐Qiang Ling
wiley +1 more source
Cirrhosis of Liver in Patients With Dyskeratosis Congenita: A Report of Two Cases
Classical mucocuaneous triad of dyskeratosis congenita in a patient with decompensated cirrhosis. ABSTRACT Dyskeratosis congenita (DC) is a genetic disorder characterized by multisystem involvement. The most commonly affected systems are the mucocutaneous, bone marrow, and lungs.
Bigyan Maharjan +8 more
wiley +1 more source
Estimates of the Prevalence and Number of Fibromyalgia Syndrome Patients and Their Alpha-1 Antitrypsin Phenotypic Distributionin Ten Countries [PDF]
During the last few years, clinical, epidemiological, and pathological evidence has suggested that inherited alpha-1 antitrypsin [AAT] deficiency might play a role in the development of the fibromyalgia syndrome [FMS], probably because of the loss of AAT
Arbesú, Daniel +7 more
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Genetic variants underlying precancerous conditions of hepatocellular carcinoma
Abstract Hepatocellular carcinoma (HCC) is the most common form of liver cancer, accounting for 80% of cases worldwide. While chronic hepatitis B and C infections remain primary risk factors, emerging evidence highlights the increasing contributions of metabolic dysfunction‐associated steatotic liver disease (MASLD) and alcohol‐associated liver disease
Jonathan Jaime G. Guerrero +7 more
wiley +1 more source
Tissue‐Derived Extracellular Vesicles Define Diagnostic Biomarkers for Renal Cell Carcinoma
Tissue‐derived EVs reveal renal cell carcinoma subtype biomarkers (NDUFA4L2/VEGFA/APOC1). Validated in urinary EVs (AUC 0.92), these markers originate from cancer cells and tumour‐associated macrophages via scRNA‐seq, enabling non‐invasive diagnosis and mechanistic insights into RCC progression.
Xinrui Wu +15 more
wiley +1 more source
Abstract Objectives Primary intestinal lymphangiectasia (PIL) is a very rare disease responsible for protein‐losing enteropathy. There is little published data about treatments efficacy and outcomes. Our main objective was to describe the clinical profile, response to therapy, and outcomes of children with PIL.
Noémie Goret +12 more
wiley +1 more source
Deficiência de alfa-1-antitripsina na doença pulmonar obstrutiva crónica [PDF]
Introdução – A deficiência de alfa-1-antitripsina é uma das alterações genéticas graves encontradas por todo o mundo. Porém, permanece subdiagnosticada, apesar da forte predisposição à doença pulmonar obstrutiva crónica que condiciona.
Cardoso, Patrícia Neves
core
Alpha 1-Antitrypsin-Labor und Alpha 1-Antitrypsin-Register [PDF]
R. Bals, C. Vogelmeier
openaire +1 more source
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive primary immunodeficiency. Patients with DOCK8 deficiency typically present at early age with allergic manifestations, cutaneous and respiratory infections, raised immunoglobulin E, and they have an increased risk of developing malignancies.
Natalia Nedelkopoulou +4 more
wiley +1 more source
Long-term augmentation therapy with Alpha-1 Antitrypsin in an MZ-AAT severe persistent asthma [PDF]
A young Caucasian female with severe bronchial asthma and Alpha1-antitrypsin (AAT) deficiency, MZ phenotype, experienced a quick and severe limitation of her physical capacity, which negatively affected her psychological state and social life, though she
Blanco, Ignacio +7 more
core

