Guy's and St Thomas' NHS Foundation Trust is an NHS foundation trust of the English National Health Service, one of the prestigious Shelford Group. It runs Guy's Hospital in London Bridge, St Thomas' Hospital in Waterloo, Evelina London Children's Hospital, two specialist heart and lung hospitals, Royal Brompton and Harefield and community services in Lambeth, Southwark and Lewisham.
Cerebral folate deficiency refers to neurological disorders associated with a reduced cerebrospinal fluid (CSF) concentration of 5-methyltetrahydrofolate (5-MTHF), arising from primary defects in folate transport or metabolism, or secondarily from acquired or other inherited conditions. Clinical presentation ranges from infancy to adulthood, with manifestations including developmental delay, seizures, cognitive impairment, and neuropsychiatric symptoms. Folate plays a central role in one-carbon metabolism, requiring interaction with other B-vitamins, most notably vitamin B12, to support nucleotide synthesis, methylation reactions, and myelin production. Disruption of folate-dependent pathways contributes to the imaging findings of cerebral folate deficiencies, which include abnormal white matter, calcifications, cerebral or cerebellar atrophy, and in some cases, stroke, or stroke-like lesions. This review outlines folate biochemistry, transport mechanisms into the central nervous system, and associated genetic defects, followed by a discussion of imaging features in primary and secondary cerebral folate deficiencies. Relevant differential diagnoses, particularly cobalamin-related disorders, are also examined. Importantly, many cerebral folate deficiencies are potentially reversible with timely recognition and therapy, underscoring the important role of neuroimaging in diagnosis and follow-up of these disorders.
Abstract Background Chronic disease, including different forms of epidermolysis bullosa (EB), may significantly impair health-related quality of life (HRQoL). To date, HRQoL in specific subtypes of recessive dystrophic EB (RDEB) has not been studied in depth. Objectives To measure HRQoL in a large cohort of individuals with different RDEB subtypes, to explore differences in physical functioning and emotional/psychosocial health scores, and to identify potential correlation with disease severity. Methods The Prospective EB Longitudinal Evaluation Study (PEBLES) is a register study of children and adults with RDEB. Reviews are repeated every 6 months (under 10 years) or annually (10 years and above) with HRQoL assessed using the Quality of Life in Epidermolysis Bullosa (QOLEB), an EB-specific questionnaire, for adult participants and the Pediatric Quality of Life Inventory (PedsQL) generic core scales, version 4.0, for child participants and their parents. Disease severity was measured with the Birmingham EB Severity score (BEBS) and the Instrument for Scoring Clinical Outcomes for EB (iscorEB). Results HRQoL was reported in 335 reviews over a maximum of seven years by 61 participants: severe RDEB (RDEB-S) n = 26, intermediate (RDEB-I) n = 21, inversa (RDEB-Inv) n = 9, pruriginosa (RDEB-Pru) n = 4 and pretibial RDEB n = 1. QOLEB demonstrated a severe impact on HRQoL for all RDEB adults (n = 47), particularly for RDEB-Pru and RDEB-S participants. Total and functioning QOLEB scores correlated with disease severity scores (iscorEB, BEBS) for all RDEB, with a statistically higher impact in RDEB-S compared to RDEB-I and RDEB-Inv. In children (n = 14), those with greater disease severity measured by iscorEB also reported worse HRQoL (PedsQL). In adults and children, physical functioning/health QoL was more severely impacted than emotions/psychosocial health, and HRQoL generally improved with age. Conclusion Our results highlight a significant impact on HRQoL in adults and children with all types of RDEB which generally correlates with disease severity. Relatively less impact on emotional functioning/psychosocial health rather than physical functioning/health scores suggests psychological adaptation from living with RDEB, a lifelong condition which typically presents at or shortly after birth. Further, a relative improvement in HRQoL with age, despite disease progression and increasing severity over time, supports ongoing adaptation throughout life.
Renal transplantation is the preferred treatment for children with end-stage renal failure, offering superior survival, growth, and quality of life compared with long-term dialysis. Up to 40
Background/Aims: Double-headed capsule endoscopy enhances visualization and diagnostic yield in small bowel evaluation but increases reading time. This study aimed to assess the diagnostic performance of AI-assisted double-headed capsule endoscopy (MiroCam MC2000) across all small bowel indications and to compare its reading efficiency with the standard manual reading mode. Methods: From May to December 2023, 242 consecutive patients (mean age 50.17 years, SD 18.3; 53% female) underwent small bowel capsule endoscopy at two UK centres for suspected Crohn's disease (48.8%), iron-deficiency anemia (23.6%), bleeding (18.6%), or other (9%). Seven experienced readers reviewed videos in standard mode (blinded to clinical data), then AI-assisted (MiroCam AI Scan) methods were applied after de-identification/randomization. Two experts provided reference standards. No adverse events occurred. Results: AI-assisted reading had sensitivity 95.3% (95% CI 90.1-98.3%) and specificity 96.5% (95% CI 91.3-99.0%) for diagnostic findings, vs. standard reading: 96.5% (95% CI 91.2-99.0%) and 85.3% (95% CI 78.0-90.9%). The positive findings rate was 83.6% vs. 80.2% (p = 0.040). Reading time decreased by 52% (38.1 vs. 18.26 min; p < 0.001). Conclusions: AI-assisted reading offers high diagnostic accuracy, superior specificity and reduced reading times, supporting its adjunctive role with expert oversight. Registered: ERGO ID 82419.
