paediatrics
paediatrics

Identification of POLA1 gene deep intronic mutation confirms diagnosis of X-linked reticulate pigmentary disorder in a Chinese patient

Indian J Dermatol Venereol Leprol. 2024 Nov 30:1-4. doi: 10.25259/IJDVL_623_2024. Online ahead of print. NO ABSTRACT PMID:39635787 | DOI:10.25259/IJDVL_623_2024

Combating PDAC Drug Resistance: The Role of Ref-1 Inhibitors in Accelerating Progress in Pancreatic Cancer Research

J Cell Signal. 2024;5(4):208-216. doi: 10.33696/signaling.5.126. ABSTRACT Pancreatic Ductal Adenocarcinoma (PDAC) remains one of the most lethal solid tumor diagnoses given its limited treatment options …

Poor treatment outcomes of acute exacerbations of chronic obstructive pulmonary disease and their associated factors among admitted patients in East Gojjam, 2023

Front Med (Lausanne). 2024 Nov 20;11:1434166. doi: 10.3389/fmed.2024.1434166. eCollection 2024. ABSTRACT BACKGROUND: Acute exacerbation of chronic obstructive pulmonary disease (COPD) poses a significant public health …

Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant

Front Immunol. 2024 Nov 20;15:1478411. doi: 10.3389/fimmu.2024.1478411. eCollection 2024. ABSTRACT BACKGROUND: Newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved the prognosis of SCID. …