Clinical and Experimental Pediatrics最新文献

Background: Inadequate knowledge of the fundamental mechanisms underlying pediatric neurological disorders impedes their effective treatment. Induced pluripotent stem cells (iPSCs) are essential for exploring the course of neurological diseases because they enable disease modeling at the cellular level.

Purpose: This study aimed to generate an iPSC bank using urine cells (UCs) for clinical applications, particularly the study of pediatric neurogenetic diseases. Urine sample collections can benefit a large donor population because they use a noninvasive, painless, and simple technique that provides plentiful cells for iPSC generation.

Methods: UCs were isolated from the urine of donors with specific diseases (n=12; 7 males, 5 females). The UCs were reprogrammed into iPSCs using episomal plasmid vectors and key transcription factors (OCT3/4, SOX2, KLF4, L-MYC, and LIN28). Quantitative polymerase chain reaction and immunocytochemical analyses confirmed the expression of pluripotent genes (OCT3/4, SOX2, NANOG, and LIN28) and proteins (OCT4, NANOG, SSEA-4, and TRA-1-60). Trilineage differentiation was investigated by immunostaining embryonic body-derived iPSCs for β-tubulin III, smooth muscle actin, and alpha-fetoprotein. The genomic stability of the iPSCs was assessed using chromosomal microarray (CMA).

Results: UCs were successfully isolated from patients with various early-onset neurogenetic diseases and reprogrammed into iPSCs. The iPSCs were confirmed as pluripotent and capable of trilineage differentiation as evidenced by the enhanced expression of relevant genes and proteins. The genomic profiles of the iPSCs were assessed using CMA, which revealed that 4 of the 12 lines exhibited pathogenic chromosomal deletions or duplications. Interestingly, repeated CMA tests using earlier-passage cells resulted in normal findings in one of the 4 iPSC lines. These findings highlight the need for genetic screening throughout the culture period.

Conclusion: Here we used UCs to successfully develop an early-onset neurogenetic disease iPSC bank that offers an efficient protocol for expanding patient accessibility in pediatric neurogenetic research.

Background: Proadrenomedullin (proADM), the most stable part of adrenomedullin (ADM), serves as an indirect marker of ADM levels. Serum amyloid A (SAA) is a protein produced primarily in the liver during acute inflammation.

Purpose: To assess the role of SAA and proADM, individually and in combination, as diagnostic and prognostic markers in pediatric sepsis.

Methods: This prospective case-control cohort study included 65 critically ill children admitted to the pediatric intensive care unit (PICU) and 31 controls. The study grouped the cases by confirmed diagnosis of sepsis, severe sepsis, or septic shock. All children included in this study underwent PICU scoring, routine laboratory investigations, and specific serum biomarker assessments (SAA and proADM).

Results: The mean SAA and proADM levels were significantly higher in the patients versus controls. Both markers were elevated in patients with sepsis, with even higher levels observed in those with severe sepsis and septic shock. SAA demonstrated greater sensitivity for predicting mortality than proADM (61% vs. 52%, respectively). When used together, the sensitivity of the 2 tests for predicting mortality increased to 70%. The 2 tests exhibited fair specificity (57%).

Conclusion: SAA and proADM are promising biomarkers for diagnosing and predicting outcomes of pediatric sepsis.

Background: It is uncertain whether hematopoietic stem cell transplantation (HSCT), versus standard enzyme replacement therapy (ERT), is effective for type VI mucopolysaccharidosis (MPS VI).

Purpose: New related advances in HSCT prompted an examination of the transplant procedures performed in a recent cohort.

Methods: This single-center retrospective study reviewed the medical records of 17 pediatric patients with MPS VI who underwent allogeneic HSCT in 2021-2023. All conditioning regimens were myeloablative. Engraftment days, complications, and survival data were recorded. As follow-up was short, we recorded only 6-minute walk test distance before versus after HSCT.

Results: The patients underwent transplantation at a median of 6-year postdiagnosis. All were engrafted and had a full or mixed chimerism. Enzyme levels were within normal ranges. Walking tests of all evaluable patients improved at a median 9-month follow-up.

Conclusion: HSCT aims to improve the disease and provides a permanent solution at the enzyme level, eliminating ERT. Our study showed that HSCT, a less expensive and permanent treatment option, should be offered to patients with MPS VI.

Myopia, among the most common vision disorders worldwide, is projected to affect approximately 50% of the world's population by 2050. Its prevalence is particularly high in East Asia, posing a considerable public health challenge. In particular, high myopia, defined as ≤-6.0 diopters, significantly increases an individual's lifetime risk of vision-threatening complications. Moreover, recent studies revealed that nonophthalmological factors such as body stature, sleep patterns, and nutritional status are strongly correlated with the progression of myopia, particularly in childhood and adolescence, underscoring the need for a systemic approach to its control. Current therapeutic approaches include optical correction, pharmacological treatment, and increased outdoor activity. Optically, defocus-incorporated multisegment spectacle lenses and orthokeratology have shown efficacy at controlling the progression of myopia through peripheral retinal defocus and corneal reshaping, respectively. Pharmacologically, atropine eye drops, especially at low concentrations (0.05%), have demonstrated efficacy at myopia control with minimal side effects, making them a preferred treatment option for progressive myopia. Behaviorally, increased outdoor activity (minimum 2 hours daily) and decreased excessive near work, particularly on digital devices, can help prevent the progression of myopia. Furthermore, studies have aimed to prevent the progression from premyopia to myopia.

Background: Adequately powered studies in children are scarce and there are reports on the risk of carbon dioxide (CO2) retention after colonoscopy.

Purpose: This study investigated the efficacy and safety of CO2 insufflation in children undergoing colonoscopy.

Methods: This prospective randomized clinical trial was conducted at a tertiary care hospital between March 2023 and July 2024. We recruited 200 consecutive children (age, 5-18 years; n=100 in each arm) who underwent colonoscopy under conscious sedation. Patients were randomized to receive CO2 or room air using a random number table. The primary outcome measure was postprocedural pain assessed by using a visual analogue scale (VAS). Secondary outcome measures included time to reach the cecum, total procedure duration, abdominal distension, and end-tidal (ET) CO2 level. Complications were recorded.

Results: Pain scores at 2 and 4 hours postprocedure were significantly lower in the CO2 versus room-air group (1.12 vs. 1.66, P=0.001 at 2 hours and 0.37 vs. 0.61, P=0.002 at 4 hours). The time to reach the cecum was significantly higher in the CO2 group (39.6 vs. 26.6 min, P=0.01). A greater proportion of children in the room-air group (29% vs. 19%, P=0.04) reported significant pain (VAS score, ≥3). The subgroup analysis revealed a significantly longer time to reach the cecum and total procedure duration in the CO2 group among first-year trainees. ET-CO2 levels were significantly higher in the CO2 group (36 [interquartile range, 35-37] mmHg vs. 34 [interquartile range, 32-35] mmHg, P=0.001), but none developed any signs of CO2 retention. No significant intergroup differences were noted in abdominal girth, bloating sensation, analgesic requirements, or procedure-related complications.

Conclusions: CO2 insufflation is safer and makes the procedure less painful but slower than room-air insufflation, especially in first-year trainees, without an increased risk of retention.

Background: Functional gastrointestinal disorders (FGIDs) are associated with various gastrointestinal (GI) and non-GI symptoms, risk factors for which commonly include psychosocial and physical stresses.

Purpose: This study aimed to compare somatic symptom severity between children with FGIDs and healthy controls during acute illnesses.

Methods: This was a prospective descriptive cross-sectional study whose inclusion criterion was age 4-18 years. Children were classified into FGID and control groups using the Rome IV diagnostic criteria. Somatic symptom severity was estimated using a visual analogue scale (VAS) and the Children's Somatic Symptoms Inventory-24 (CSSI-24) questionnaire and compared between groups.

Results: Ninety-three children, including 40 with FGIDs (43%), were enrolled. The FGID group had statistically significantly higher VAS scores for abdominal pain than controls (2.93±3.68 vs. 0.72±2.08, P<0.001). However, no significant intergroup differences were noted in VAS scores for nausea (P=0.493) or headache (P=0.311). For somatization symptoms, the CSSI-24 total (20.58±18.32 vs. 7.06±10.49, P<0.001), GI symptom (9.60±7.48 vs. 2.43±3.39, P≤0.001) and non-GI symptom (10.98±11.67 vs. 4.62±7.88, P< 0.001) scores were significantly higher for the FGID versus control groups, respectively.

Conclusion: Children with FGIDs exhibited more significant somatic symptoms than controls during acute illnesses. GI and non-GI manifestations were significantly more common in children with FGIDs.