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Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy

by jlohrconsulting | Jul 21, 2025 | Uncategorized

Front Genet. 2025 Jul 4;16:1622185. doi: 10.3389/fgene.2025.1622185. eCollection 2025. ABSTRACT A class of progressive, autosomal recessive neurodegenerative diseases known as neuronal ceroid lipofuscinoses (NCLs) are brought on by lysosomal protein or enzyme...

Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report

by jlohrconsulting | Jul 21, 2025 | Uncategorized

Transl Pediatr. 2025 Jun 27;14(6):1370-1379. doi: 10.21037/tp-2025-87. Epub 2025 Jun 25. ABSTRACT BACKGROUND: The broad phenotypic variability observed in patients with Xp22.31 deletion, traditionally associated with X-linked ichthyosis (XLI), is increasingly...

Neurodevelopmental disorder due to a frameshift mutation in the GRIN2A gene: a case report

by jlohrconsulting | Jul 21, 2025 | Uncategorized

Transl Pediatr. 2025 Jun 27;14(6):1353-1361. doi: 10.21037/tp-2025-93. Epub 2025 Jun 18. ABSTRACT BACKGROUND: Pathogenic variants in GRIN2A, encoding the GluN2A subunit of the N-methyl-D-aspartate receptor (NMDAR), are increasingly recognized as causes of...

Revisiting 15 000 hours: towards sustainable school systems for mental health, well-being and learning

by jlohrconsulting | Jul 21, 2025 | Uncategorized

BJPsych Open. 2025 Jul 21;11(4):e157. doi: 10.1192/bjo.2025.10058. ABSTRACT An independent evaluation of The Resilience Project’s School Partnership Program in Australian secondary schools found that longer participation (6+ years) in this whole-school programme...

Economic costs associated with insomnia in adults with subthreshold depression or major depressive disorder

by jlohrconsulting | Jul 21, 2025 | Uncategorized

BJPsych Open. 2025 Jul 21;11(4):e158. doi: 10.1192/bjo.2025.10077. ABSTRACT BACKGROUND: Previous studies have found substantial costs to be associated with depression and insomnia (as separate entities). AIMS: To estimate healthcare service use and costs associated...

Exploring Social Cognition Sub-Domains and Predictors in Multiple Sclerosis: A Cross-Sectional Study

by jlohrconsulting | Jul 21, 2025 | Uncategorized

Brain Behav. 2025 Jul;15(7):e70691. doi: 10.1002/brb3.70691. ABSTRACT BACKGROUND AND PURPOSE: Social cognition (SC) is increasingly recognized as a key cognitive domain affected in multiple sclerosis (MS), yet its sub-domains and clinical correlates remain...
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Recent Posts

  • Dissociative Drug-Induced Anxiety
  • Associations in intentions to use anabolic-androgenic steroids among non-consuming boys and men with probable eating disorders and muscle dysmorphia
  • Assessing schema modes for eating disorders and their association with personality traits: validation of the English version of the short form of the schema modes inventory for eating disorders (EN-SMI-ED-SF)
  • Associations in intentions to use anabolic-androgenic steroids among non-consuming boys and men with probable eating disorders and muscle dysmorphia
  • Assessing schema modes for eating disorders and their association with personality traits: validation of the English version of the short form of the schema modes inventory for eating disorders (EN-SMI-ED-SF)

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