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.
To describe the clinical profiles, and outcomes of late-preterm and term neonates transported with respiratory support and identify predictors of mortality. This retrospective observational study included neonates with a gestational age of ≥35 wk and a birth weight of ≥1.5 kg, transported with respiratory support by a dedicated neonatal team between January 2014 and December 2023. All the eligible neonates transported during the study duration were included. The mean gestational age of 647 neonates was 37.09 ± 1.21 wk, and the mean birth weight was 2.77 ± 0.48 kg. Respiratory distress (73.5
OBJECTIVES:To study the feasibility of integrating the nitrogen multiple breath wash-in/washout (NMBW) technique with the positive end-expiratory pressure-step (PEEP-step) method to estimate transpulmonary driving pressure (DP TP ), strain, and lung-specific elastance ( k ). DESIGN:Prospective feasibility physiology study. SETTING:National board-affiliated 30-bed quaternary care hospital PICU. PATIENTS:Invasively ventilated children from 2 months to 16 years old between December 1, 2021, and August 30, 2022. INTERVENTIONS:In volume-control mode, functional residual capacity (FRC) was measured using the NMBW technique at zero end-expiratory pressure (ZEEP), and end-expiratory lung volume was measured during the PEEP-step method. MEASUREMENTS AND RESULTS:Data from 33 of 63 eligible subjects were analyzed, of whom 18 of 33 had pediatric acute respiratory distress syndrome (PARDS). Median (interquartile range [IQR]) FRC normalized to body weight was 15.1 mL/kg (IQR, 10.6-20.4 mL/kg). A correlation was found between FRC and respiratory compliance at ZEEP (rho = 0.775; p < 0.001). Strain demonstrated a positive correlation with both the DP TP (rho = 0.55; p < 0.001) and plateau pressure (rho = 0.72; p < 0.001) at ZEEP. Median k was lower in PARDS than non-PARDS subjects (16.1 cm H 2 O [IQR, 10.8-18.6 cm H 2 O] vs. 19.84 cm H 2 O [IQR, 18.50-23.93 cm H 2 O]; p = 0.045), but this difference was not present when k was normalized to body weight and height. CONCLUSIONS:Despite technical limitations, it appears possible to estimate DP TP , strain, and k by integrating the PEEP-step and NMBW methods. Validation against the gold standard esophageal pressure manometry is warranted.
AIM:This study aims to examine changes in the osmolality of pasteurized donor human milk (PDHM) following the addition of probiotics and commonly used neonatal additives. METHODS:The osmolality of PDHM was measured at 10 minutes using a calibrated osmometer by a technician blinded to the probiotics and additives used in the study. The osmolality of 5 mL of PDHM was measured after the addition of four different probiotics and commonly used additives, including caffeine, cephalexin, domperidone, esomeprazole, fluconazole, furosemide, ibuprofen, lansoprazole, levetiracetam, paracetamol, phenobarbitone, sildenafil, and ursodeoxycholic acid, administered separately in therapeutic doses. The osmolality of the oral iodinated non-ionic contrast agent (Omnipaque) was measured after 1:2 and 1:4 dilution with sterile water. The volume of PDHM required to be added to each additive to keep the osmolality below 450 mOsm/kg, as recommended by the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN), was calculated. RESULTS:The mean osmolality of PDHM was 256 mOsm/kg, which, on reconstitution with most additives, exceeded 450 mOsm/kg. The osmolality of pure additives ranged from 161 to >2000 mOsm/kg. There was a significant increase in the osmolality of PDHM beyond the recommended 450 mOsm/kg with most additives, except caffeine, cephalexin, esomeprazole, fluconazole, furosemide, lansoprazole, and sildenafil. A maximum increase in osmolality to 1723 mOsm/kg (range 260-1723 mOsm/kg) was observed with probiotics. Domperidone, ibuprofen, levetiracetam, paracetamol, phenobarbitone, and ursodeoxycholic acid increased the osmolality beyond 450 mOsm/kg. The osmolality of the iodinated non-ionic contrast agent (Omnipaque), when diluted with sterile water in a 1:4 ratio, was 461 mOsm/kg. CONCLUSION:The addition of probiotics to PDHM increases osmolality and requires appropriate dilution to maintain levels below the recommended 450 mOsm/kg. Therapeutic additives such as domperidone, ibuprofen, levetiracetam, paracetamol, phenobarbitone, and ursodeoxycholic acid also increase the osmolality of PDHM and require appropriate dilution. Future research should focus on developing probiotics and additives with lower osmolality to improve safety in neonates.
Abstract Background Infection in children with cancer can be prevented through effective infection prevention and control (IPC) practices. The Indian Childhood Cancer Initiative (ICCI), aimed at strengthening the Government of India’s program for pediatric cancer control, has 80 hospitals in 15 of 28 Indian states. The ICCI Supportive Care (SC) Task Force focuses to reduce healthcare-associated infections (HAIs) in pediatric oncology (PO) by strengthening essential IPC interventions (IPC Essentials) including hand hygiene (HH), safe vascular access (VA), standard and transmission-based precautions (STP), and blood culture and antimicrobial susceptibility testing (BC/AST). We describe a participatory design workshop for refining a survey draft, and educational materials (lectures and workstations) to meet user needs. Methods The SC Task Force and St. Jude Children’s Research Hospital team developed a 35-item IPC Essential educational needs assessment survey. Using a modified Delphi method, the survey was answered by 45 ICCI delegates (nurses, pediatricians and specialists of pediatric oncology, infections, and IPC) during an in-person workshop in Kolkata, India. Using Menti technology, survey responses were discussed, and changes annotated. Then, the team members presented the four IPC Essentials lectures and workstations (posters, pamphlets, and supplies). Attendees discussed, inquired, reviewed, and gave recommendations to optimize IPC Essentials materials. Using theory of change, we outlined a causal roadmap linking educational activities to learning outcomes proposed for IPC Essentials training implementation. Results The 45 delegates identified key institutional challenges for IPC Essentials adherence including lack of accountability for non-compliance (73%), limited awareness of IPC policies and procedures (P&P) (69%), poor compliance (62%), and lack of dedicated IPC staff (33%). Delegates suggested integrating IPC education into learning portfolios (83%) and using it as a professional development incentive (71%) to improve adherence. Overall, the lectures and workstations were well received and recommended standardized lesson plans across four IPC Essentials modules, developed a facilitator guide for the workstations and to use IPC institutional champions to facilitate training. Conclusion The workshop refined the needs assessment survey, educational lectures and workstations for frontline PO staff at ICCI institutions. Future directions include monthly virtual meetings with delegates to continue addressing identified challenges, and enablers to implement the PO staff needs assessment survey, and IPC Essential training. Strengthening the IPC capacity within ICCI institutions by focusing on the essentials might facilitate achieving the 2030 goal of meeting the 60% survival and 100% access in care quality.
