Results 81 to 90 of about 5,947 (218)

JAK Inhibition in PNPT1‐Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial–Immune Crosstalk

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Biallelic pathogenic variants in PNPT1 cause combined oxidative phosphorylation deficiency 13 (COXPD13) (MIM #614932), linking mitochondrial dysfunction to type I interferon (IFN) activation through cytosolic leakage of mitochondrial double‐stranded RNA (mt‐dsRNA).
Dan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, Steven Lang, Emily Bland, Rui Yang, Sarah Kogan Nicholas, Stephanie Jean Sikkink, Stephen Kralik, Christine Eng, Chaya Nautiyal Murali, Seema Lalani, Pilar Lenglet Magoulas, Lisa Emrick, Kristen Sydney Fisher, Fernando Scaglia   +15 more
wiley   +1 more source

Splenectomy for hereditary spherocytosis: complete, partial or not at all?

, 2011
Hereditary spherocytosis (HS) is an hematologic disorder, common in the Northern European population, which is characterized by hemolytic anemia and splenomegaly.
Maddalena Casale, CASALE, Maddalena, PERROTTA, Silverio, Silverio Perrotta   +3 more
core   +1 more source

Pediatric splenectomy for hematologic disorders: two-decade experience and prophylactic cholecystectomy outcomes

BMC Surgery
Background While splenectomy remains a cornerstone treatment for certain hematologic diseases, controversy persists regarding the optimal timing and indications for prophylactic cholecystectomy. This study evaluates long-term outcomes from a large single-
Oguzhan Uzaslan, Ali Ekber Hakalmaz, Suheyla Ocak, Osman Faruk Senyuz, Senol Emre   +4 more
doaj   +1 more source

Brainstem evoked auditory response in preterm and full-term infants

National Journal of Physiology, Pharmacy and Pharmacology, 2015
Background: The survival of preterm infants has increased substantially over last few decades because of improvements in obstetric and neonatal care. However, the newborn experience many perinatal complications including peripheral or central hearing ...
Lakshmi T Venkatesh, Brid SV Shivagirao
doaj   +1 more source

Ischemia–Reperfusion Injury: Molecular Mechanisms and Therapeutic Interventions

MedComm, Volume 7, Issue 7, July 2026.
Multiorgan ischemia–reperfusion injury begins with ischemia‐induced ATP depletion and ionic imbalance, followed by reperfusion‐triggered mitochondrial ROS/RNS bursts, regulated cell death, and DAMP release. Sterile inflammation converges on endothelial–immune–coagulation crosstalk, where NETs drive immunothrombosis, no‐reflow, and remote organ injury ...
Peng An, Yi An, Mengwei Chen, Longlong Wu, Rong Wang   +4 more
wiley   +1 more source

The influence features of ethilism in Gilbert hyperbilirubinemia [PDF]

, 2010
Catedra Biochimie şi Biochimie Clinică USMF „Nicolae Testemiţanu”Recent sources WHO define ethilism as a condition in which a subject consumes alcohol in the detriment of his health, personal activity and social career, losing control over drinking and ...
Juncu, Victor, Lîsîii, Leonid, Ambros, Ala, Stratulat, Silvia   +3 more
core  

Prevalence of risk factors for sensorineural hearing loss in NICU newborns

B-ENT, 2012
Prevalence of risk factors for sensorineural hearing loss in NICU newborns. Objectives: The aim of this study was to determine the prevalence and significance of traditional risk factors associated with sensorineural hearing loss (SNHL) in a population ...
K. Speleman, K. Kneepkens, K. Vandendriessche, F. Debruyne, C. Desloovere   +4 more
doaj   +2 more sources

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

In silico study of peculiarities of metabolism of erythrocytes with glucosephosphate isomerase deficiency

Regulatory Mechanisms in Biosystems, 2019
Glucose phosphate isomerase (GPI) deficiency, the third most common cause of hereditary nonspherocytic hemolytic anemia, is associated with the mutation of the GPI gene. The results of the GPI deficiency are premature aging of erythrocytes, macrocytosis,
O. I. Dotsenko
doaj   +1 more source

Neonatal cholestasis, hyperferritinemia, hypoglycemia and deafness:a diagnostic challenge

, 2019
Neonatal conjugated hyperbilirubinemia is a diagnostic challenge. A full term, small for gestational age boy presented with cholestasis, hypoglycemia, hyperferritinemia and severe bilateral deafness.
Heijligers, Malou, van Westering-Kroon, Elke, Hütten, Matthias Christian   +2 more
core   +1 more source