Intelligent Design of Lipid Nanoparticles for Enhanced Gene Therapeutics.

Lipid nanoparticles (LNPs) are an effective delivery system for gene therapeutics. By optimizing their formulation, the physiochemical properties of LNPs can be tailored to improve tissue penetration, cellular uptake, and precise targeting. The application of these targeted delivery strategies within the LNP framework ensures efficient delivery of therapeutic agents to specific organs or cell types, thereby maximizing therapeutic efficacy.

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2, NM_002577.

Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.

Background: Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.

Methods: A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022.

Abnormal characteristics of inferior vena cava and abdominal aorta among neonates with early onset septic shock.

Background: The variety of shocks in neonates, if not recognized and treated immediately, is a major cause for fatality. The use of echocardiography may improve assessment and treatment, but its reference values across gestational age (GA) and birth weight (BW) are lacking. To address the information gap, this study aimed at correlating GA and BW of newborns with nonhemodynamic abnormalities, and at evaluating the usefulness of such reference values in neonates with early onset septic (EOS) -shock.

Congenital scoliosis presenting in teenage years outcomes without hemivertebra excision.

Purpose: In congenital scoliosis, the surgical strategy approach of hemivertebra excision, with or without instrumentation and fusion, is a common approach to correction of scoliosis. However, hemivertebra excisions are technically challenging, with potential complications including spinal cord injury, nerve root injury and cerebrospinal fluid leak. The purpose of this study was to determine whether correction of congenital scoliosis can be achieved using a posterior instrumentation/fusion-only approach without the need for hemivertebra excision.

Effects of emotions on IVF/ICSI outcomes in infertile women: a systematic review and meta-analysis.

To assess whether infertile women's psychological conditions, such as depression, anxiety, and stress, are associated with in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) outcomes, we systematically searched for relevant articles from January 1, 2004, to March 29, 2024, in five databases, including PubMed, Web of Science, EMBASE, Cochrane Library, and PsycINFO. A random-effects model was used to examine pooled standardized mean differences (SMD) and 95% confidence interval (CI). A total of 29 articles fulfilled the inclusion criteria and were included in this meta-analysis.

Early-phase EEG power spectrum analysis may differentiate acute encephalopathy with biphasic seizures and late reduced diffusion from prolonged febrile seizures.

Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is clinically characterized by biphasic seizures associated with mild to severe neurological sequelae and is the most common subtype of acute encephalopathy in Japan, accounting for around 30 % of cases. The present study retrospectively analyzed the utility of electroencephalography (EEG) in determining the optimal method of diagnosing AESD at the early stage.

Methods: This study explores early power value differences to differentiate acute encephalopathy from prolonged febrile seizure (FS).

Efficacy and Safety of Proactive Therapy with 2% Crisaborole Ointment in Children with Mild-to-Moderate Atopic Dermatitis: A Randomized Controlled Study.

Background: The effectiveness of crisaborole for proactive treatment of atopic dermatitis (AD) is not well established.

Objectives: This study aims to investigate the efficacy and safety of a proactive treatment strategy with 2% crisaborole ointment for managing mild-to-moderate AD in children.

Patients And Methods: In this 16-week randomized-controlled trial, children aged 2-17 years with mild-to-moderate AD were enrolled.

Early differential diagnosis of cystic biliary atresia and choledochal cyst in the fetus: A multicenter retrospective study.

Background/purpose: Fetal hilar cyst is primarily diagnosed as two diseases after birth, cystic biliary atresia (CBA) and choledochal cyst (CC). The aim of our study was to explore more reliable indicators in early differential diagnosis of these cysts.

Methods: We recruited a total of 50 cases with a prenatal diagnosis of hepatic cyst at three centers, and patients were divided into a CBA group (n = 16) and CC group (n = 34) according to postnatal intraoperative diagnosis.

Impact of corticosteroids on the efficacy of CD19/22 CAR-T cell therapy in pediatric patients with B-ALL: a single-center study.

Introduction: Corticosteroids are used for toxicity management, raising concerns about whether they may affect the anti-leukemic effects of chimeric antigen receptor (CAR)-T cells.

Methods And Results: In this study, we retrospectively analyzed patients (fined two subgroups based on disease burden. Of the 75 cases in the low disease burden (LDB) group (MRD < 5%, no extramedullary disease), there was no significant difference between the use of steroids and event-free survival (EFS) ( = 0.

Primary Diffuse Leptomeningeal Melanomatosis Leading to Raised Intracranial Pressure in a Pediatric Patient.

A critical clinical consideration, in addition to other common risk factors predisposing individuals to idiopathic intracranial hypertension (IIH), involves the potential co-occurrence of increased intracranial pressure and elevated cerebrospinal fluid protein levels in the presence of underlying malignancies. Primary diffuse leptomeningeal melanomatosis, an exceptionally rare condition with few reported cases in the pediatric population, illustrates this scenario. Timely decision-making based on clinical suspicion to perform a biopsy and involving a skilled pathologist for accurate reporting are essential steps toward achieving a definitive diagnosis.

Treatment effects of CFTR modulators on people with cystic fibrosis carrying the Q359K/T360K variant.

https://bit.ly/45DjFw9.

Concomitant Parvovirus B19 and CMV Infection in a Child with Kidney Transplant.

Parvovirus B19 is a common human infection worldwide and is typically self-limiting in healthy persons but immunocompromised patients require specific treatments. Pretransplant B19 screening doesn't seem to be important or have any impact on the transplantation process but cytomegalovirus (CMV) study is crucial. We present a kidney-transplanted child infected by parvovirus B19 and cytomegalovirus presented with intractable anemia and raised creatinine.

Effectiveness of Belimumab for Glucocorticoid Discontinuation in Juvenile-Onset Lupus Nephritis.

Lupus nephritis (LN) is an important complication of systemic lupus erythematosus, for which glucocorticoids (GCs) are the primary treatment. Due to the side effects associated with GCs, their long-term use should ideally be tapered and discontinued. At present, no such possibility exists without problematic flares after discontinuation.

Maintenance-phase serum anti-TNF levels are not associated with mucosal healing in pediatric Crohn's disease.

Objectives: Mucosal healing (MH) is a key therapeutic target in Crohn's disease (CD) and is associated with improved outcomes. While adult studies indicate a positive correlation between serum anti-tumor necrosis factor (TNF) levels and MH, data in pediatric patients is limited. We aimed to define the association of serum anti-TNF levels with MH in pediatric patients with CD during maintenance therapy.

Research progress in diagnosis and treatment of psychogenic pseudosyncope in children.

Psychogenic pseudosyncope is one of the primary causes of transient loss of consciousness in children and adolescents, essentially classified as a conversion disorder that significantly impacts patients' quality of life. Clinically, psychogenic pseudosyncope shares certain similarities with vasovagal syncope in terms of pre-syncope symptoms and triggers, making it sometimes difficult to differentiate and easily misdiagnosed. Therefore, placing emphasis upon the characteristics of psychogenic pseudosyncope is crucial for early identification and treatment, which holds significant importance for the mental and psychological health of children and adolescents.

Effect of azithromycin combined with fluticasone propionate aerosol inhalation on immune function in children with chronic cough caused by Mycoplasma pneumoniae infection.

Unlabelled: This research aimed to describe the effect of azithromycin combined with fluticasone propionate aerosol inhalation on immune function in children with chronic cough caused by Mycoplasma pneumoniae (MP) infection. This study was a retrospective analysis in which 110 children with chronic cough caused by MP infection were divided into two groups based on different treatment methods: 58 cases in the control group treated with azithromycin dry suspension and 52 cases in the intervention group treated with azithromycin dry suspension and fluticasone propionate inhalation aerosol. Lung function, inflammatory factors, immune indicators, laboratory-related indicators, adverse reactions, and therapeutic effects were compared between the two groups.

Elective Discontinuation of Larotrectinib in Pediatric Patients With TRK Fusion Sarcomas and Related Mesenchymal Tumors.

Larotrectinib is a highly selective tropomyosin receptor kinase (TRK) inhibitor with efficacy in children with TRK fusion tumors. We evaluated patient outcomes after elective discontinuation of larotrectinib in the absence of disease progression in a protocol-defined wait-and-see subset analysis of eligible patients where treatment resumption with larotrectinib was allowed if disease progressed. We also assessed the safety and efficacy of larotrectinib in all pediatric patients with sarcoma.

Morphological Characteristics and Extracellular Matrix Abnormalities in Astrocytes Derived From iPSCs of Children With Alexander Disease.

Aims: Alexander disease (AxD) is a leukodystrophy caused by mutations in the astrocytic filament gene GFAP. There are currently no effective treatments for AxD. Previous studies have rarely established AxD models with the patient's original GFAP mutations.

Assessment of hemodynamic disturbances and impaired ventricular filling in asymptomatic fontan patients: A 4D flow CMR study.

Background: The Fontan procedure is a surgical intervention designed for patients with single ventricle physiology, wherein the systemic venous return is redirected into the pulmonary circulation, thereby facilitating passive pulmonary blood flow without the assistance of ventricular propulsion. Consequently, long-term follow-up of individuals who have undergone the asymptomatic Fontan procedure is essential.

Objectives: The aims of this investigation were to: 1) examine the impact of flow components and kinetic energy (KE) parameters on hemodynamic disturbances in asymptomatic Fontan patients and control group; 2) Assess left ventricular diastolic dysfunction through the analysis of 4D flow parameters across different Fontan sub-groups; 3) Compare intracardiac flow parameters among Fontan sub-groups based on morphological features of the left ventricle (LV) and right ventricle (RV).

Prolonged screen time is associated with increased severity of tic symptoms in children with tic disorders.

Background: Recent studies have emphasized the association between prolonged screen exposure and neurodevelopmental disorders, though its correlation with tic disorders (TDs) remains ambiguous. We thus conducted this study to investigate the association between screen time (ST) and the severity of tic symptoms in children diagnosed with TDs.

Methods: We conducted a retrospective case-control study with 342 cases of TDs and 270 controls, collecting data from March 2021 to December 2023.

Human breast milk-derived exosomes and their positive role on neonatal intestinal health.

Although the role of breast milk in promoting neonatal growth and maintaining intestinal homeostasis is well established, underlying mechanisms by which it protects the intestine from damage remain to be elucidated. Human breast milk-derived exosomes (HMDEs) are newly discovered active signaling vesicles with a diameter of 30-150 nm, which are key carriers of biological information exchange between mother and child. In addition, due to their ability to cross the gastrointestinal barrier, low immunogenicity, good biocompatibility and stability, HMDEs play an important role in regulating intestinal barrier integrity in newborns.

Effect of external infusion connection devices replacement frequency on catheter related bloodstream infection.

Timely and effective rescue of critically ill children no longer solely relies on advanced medical technology; vascular access plays a pivotal role. Best practice recommendations for nursing in vascular access are critical for ICU patients. However, clear guidelines for the maintenance of external infusion connection devices remain lacking.