Results 1 to 6 of about 6 (6)

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He, Kang Xie, Kang Yang, Nianhua Wang, Longbo Zhang   +4 more
wiley   +1 more source

A Patient With Concurrent Hidradenitis Suppurativa and Porokeratosis Palmaris et Plantaris Disseminata: Case Report and Review of Autoinflammatory Keratinization Diseases

Journal of Cutaneous Pathology, Volume 52, Issue 4, Page 272-277, April 2025.
ABSTRACT The term autoinflammatory keratinization diseases (AIKDs) was recently proposed as a unifying concept for diseases characterized by inflammation in the epidermis and upper dermis which leads to hyperkeratosis, caused by genetic perturbations of the innate immune system.
Meredith C. Rogers, Mark Ash, Amanda Hernandez, Gregory A. Hosler   +3 more
wiley   +1 more source

Examining the genomic influence of topically applied probiotics in vitro

International Journal of Cosmetic Science, Volume 46, Issue 6, Page 995-1003, December 2024.
The present study examines the genomic influence of four topically applied probiotics onto reconstructed human epidermis models. The probiotics were applied to RHE via just‐add‐water powders containing the living probiotics and examines 244 skin specific gene responses resulting from 24 h of contact between the RHE and the living probiotics.
James V. Gruber, Robert Holtz, Megan Roach   +2 more
wiley   +1 more source

Variable clinical phenotypes of alpha‐methylacyl‐CoA racemase deficiency: Report of four cases and review of the literature

JIMD Reports, Volume 65, Issue 5, Page 305-312, September 2024.
Abstract Alpha‐methylacyl‐CoA‐racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood.
Arzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, Youssef Khalil, Rohit Hirachan, Hacer Durmuş Tekçe, Yeşim Gülşen Parman, Asuman Gedikbaşı, Mübeccel Demirkol, Peter Clayton, Gülden Gökçay   +10 more
wiley   +1 more source

Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias

International Journal of Laboratory Hematology, Volume 46, Issue 4, Page 595-605, August 2024.
This review focuses on recent advancements in the field of hereditary dyserythropoietic anemias and provides a gene‐based classification of this heterogeneous group of genetic disorders. Abstract Hereditary dyserythropoietic anemias, or congenital dyserythropoietic anemias (CDAs), are rare disorders disrupting normal erythroid lineage development ...
Roberta Russo, Achille Iolascon, Immacolata Andolfo, Roberta Marra, Barbara Eleni Rosato   +4 more
wiley   +1 more source

A case report of Hyper‐IgD syndrome in a 5‐year‐old girl with recurrent fever, skin rash, and arthralgia; novel MVK mutation (C.298G>A)

Clinical Case Reports, Volume 12, Issue 5, May 2024.
Key Clinical Message This case highlights the potential for later‐onset Hyper‐IgD syndrome (HIDS) even beyond infancy. Clinicians evaluating children with recurrent fever, skin rash, and arthralgia should consider HIDS in the differential diagnosis, regardless of age.
Pooneh Tabibi, Reza Shiari, Shabnam Hajiani Ghotb Abadi   +2 more
wiley   +1 more source