Results 181 to 190 of about 26,981 (283)

Ichthyosis Prematurity Syndrome. [PDF]

open access: yesAustralas J Dermatol
Li GX, Chen K, Sebaratnam DF, Pham JP.
europepmc   +1 more source

Fat embolism: a systematic review to facilitate the development of standardised procedures in pathology

open access: yesHistopathology, Volume 86, Issue 6, Page 845-861, May 2025.
The present study can provide a comprehensive overview of the FE topic. It furnishes pathologists with an updated overview useful for clinical practice and guiding future research trends, as well as facilitating the development of standardised procedures.
Donato Morena   +4 more
wiley   +1 more source

Idiopathic Pulmonary Fibrosis Caused by Damaged Mitochondria and Imbalanced Protein Homeostasis in Alveolar Epithelial Type II Cell

open access: yesAdvanced Biology, Volume 9, Issue 4, April 2025.
By systematizing a large body of evidence and propose a cascade relationship between protein homeostasis, endoplasmic reticulum stress, mitochondrial dysfunction, and pro‐fibrotic factor, providing a theoretical basis for ATII cells dysfunction as a possible pathophysiological initiating event for idiopathic pulmonary fibrosis.
Zhaoxiong Dong   +6 more
wiley   +1 more source

Adrenal High‐Expressional CYP27A1 Mediates Bile Acid Increase and Functional Impairment in Adult Male Offspring by Prenatal Dexamethasone Exposure

open access: yesAdvanced Science, Volume 12, Issue 14, April 10, 2025.
Prenatal dexamethasone exposure (PDE) can induce dysfunction in adrenal steroid synthesis in adult male offspring. This study demonstrate that the mechanism is associated with the upregulation of fetal adrenal cholesterol 27 hydroxylase (CYP27A1)promoter region histone 3 lysine 27 acetylation (H3K27ac) levels and expression mediated by PDE through the ...
Jiangang Cao   +7 more
wiley   +1 more source

Immune Dysregulation in a Child With SOD1‐Related Neurological Disease

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Spastic tetraplegia and axial hypotonia (STAHP) associated with biallelic SOD1 deficiency is a recently described neurological disorder affecting children. Five studies have described a total of nine cases thus far, all characterized by the onset of progressive spastic tetraplegia beginning before 2 years of age. All but two of these cases are
Rozlyn Claire Thomas Boutin   +5 more
wiley   +1 more source

The in-vitro performance of a modern portable respirator in different lung models and as an alternative intensive care respirator: A simulation based cohort study. [PDF]

open access: yesEur J Anaesthesiol Intensive Care
Schneider CJ   +9 more
europepmc   +1 more source

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Alteration in the ubiquitin‐proteasome system results in human disorders with neurological and/or autoinflammatory presentation. Haploinsufficiency of PSMD12, which encodes a subunit of the core component of the proteasome, causes Stankiewicz‐Isidor syndrome (STISS), characterized by intellectual disability, autism spectrum disorder ...
Agnese Feresin   +9 more
wiley   +1 more source

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