Surgical and Ablation Therapies for Atrial Appendage Tachycardia in Children.

Background: Atrial tachycardia (AT) originate from the atrial appendage present unique clinical challenges in pediatrics. It is typically persistent, frequently leading to tachycardiomyopathy, and poses significant treatment difficulties.

Objectives: This study aimed to collate and analyze the clinical characteristics and therapeutic outcomes of radiofrequency ablation (RFCA) and with atrial appendage resection for the treatment of AT originating from the atrial appendages in pediatric patients.

CAR/CSACI Practice Guidance for Contrast Media Hypersensitivity.

Contrast media, including iodinated contrast media and gadolinium-based contrast agents, are commonly administered pharmaceuticals with excellent safety profiles. However, a minority of the population may experience a hypersensitivity reaction following intravenous administration. Hypersensitivity reactions can be immediate or delayed, and range from mild, such as urticaria, to severe, including anaphylaxis.

Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome.

Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.

Pediatric Brain Tumors in Western Kenya: Patient Outcomes and Healthcare Providers' Perspectives.

Background: Pediatric brain tumors are understudied compared to other pediatric malignancies in low- and middle-income countries. Care delivery is inherently dependent on collaboration between multiple departments. This study aimed to present baseline data of pediatric neuro-oncology care in Western Kenya and illustrate barriers and facilitators of multidisciplinary care.

Advancement of the Dragon Heart 7-Series for Pediatric Patients With Heart Failure.

Background: Safe and effective pediatric blood pumps continue to lag far behind those developed for adults. To address this growing unmet clinical need, we are developing a hybrid, continuous-flow, magnetically levitated, pediatric total artificial heart (TAH). Our hybrid TAH design, the Dragon Heart (DH), integrates both an axial flow and centrifugal flow blood pump within a single, compact housing.

Effects of Combined Periodontal, Endodontic, and Dentoalveolar Surgical Treatments on Laboratory Parameters in Patients with Hyperlipidemia-A Clinical Interventional Study.

Patients with hyperlipidemia are of interest because of the possible interplay between chronic local dental infections and hyperlipidemia. This interventional clinical study aimed to evaluate the oral health status of hyperlipidemic patients receiving lipid-lowering therapy for at least 6 months and the effects of non-surgical and surgical dental treatments on serum C-reactive protein (CRP) levels and lipid markers. Twenty-eight patients with controlled hyperlipidemia and 18 healthy controls were enrolled in the study.

Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.

Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.

Pediatric Bell's Palsy: Prognostic Factors, Management Strategy, and Treatment Outcomes.

Bell's palsy (BP) is a neurological disorder characterized by sudden unilateral peripheral facial paralysis. The etiology in children remains largely unknown, and standardized management strategies are lacking. The aim of this retrospective cohort study is to evaluate clinical features, laboratory markers, and therapeutic options associated with recovery to identify potential prognostic factors and validate therapeutic strategies, with a particular focus on the role of corticosteroids and vitamin supplementation.

A Narrative and Case-Illustrated Review on Dental Autotransplantation Identifying Current Gaps in Knowledge.

: Permanently replacing missing teeth in the younger population is a clinical challenge. However, dental autotransplantation offers a viable treatment option in this demographic. To be performed predictably, it requires proper diagnoses, planning, and adherence to established guidelines in a multidisciplinary approach.

Identification of the Determinants of Plexiform Neurofibroma Morbidity in Pediatric and Young Adult Neurofibromatosis Type 1 Patients: A Pilot Multivariate Approach.

Background: Plexiform neurofibromas (PNs) are histologically benign peripheral nerve sheath tumors associated with neurofibromatosis type 1 (NF1) and often lead to significant morbidity due to growth. Management includes watchful waiting, surgery for partial debulking, and, since recently, systemic treatment with MEK inhibitors. However, due to the scarcity of natural history studies, our understanding of the natural progression of PNs to guide clinicians in deciding in whom and when to intervene is scarce.

Blood Transfusion and Survival of Children, Adolescent, and Young Adult Patients with Osteosarcoma: A Multicenter Retrospective Cohort Study.

: Prior studies suggest that blood transfusion may adversely affect the survival of patients with cancer via transfusion-related immunomodulation. The objective of our study is to investigate the association between transfusion during neoadjuvant chemotherapy and survival in children, adolescent, and young adult (CAYA, 39 years old or younger) patients with osteosarcoma. : This is a multicenter retrospective cohort study of patients between 2007 and 2022.

Clinical Presentations of Celiac Disease: Experience of a Single Italian Center.

Background/objectives: In Italy, the prevalence of celiac disease (CeD) among children exceeds 1.5% and has steadily increased with a linear trend over the past 25 years. The clinical presentation is heterogenous and a change in onset symptoms has been described in recent years.

Food Protein-Induced Allergic Proctocolitis: Real-World Experience from an Italian Cohort.

: Food protein-induced allergic proctocolitis (FPIAP) is a non-IgE-mediated food allergy, usually presenting as bloody stools in breastfed, well-appearing, and regularly growing infants. The aim of our study was to describe the clinical features of Italian infants affected by FPIAP and their management and natural history in a real-life setting. : A retrospective, observational study was performed at two tertiary pediatric hospitals (Florence and Trieste), including FPIAP-diagnosed infants between 2012 and 2022.

Celiac Disease and Liver Damage: The Gut-Liver Axis Strikes Back (Again)? A Retrospective Analysis in the Light of a Literature Review.

: An increasing number of studies have reported liver involvement in both children and adults with celiac disease (CD). This often manifests as isolated hypertransaminasemia or hepatic steatosis (HS). The aim of this study was to define the prevalence of hypertransaminasemia and HS in a pediatric population with CD before starting a gluten-free diet (GFD) and to analyze how the introduction of a GFD could modify this condition.

Redosing with Intralymphatic GAD-Alum in the Treatment of Type 1 Diabetes: The DIAGNODE-B Pilot Trial.

Immunotherapies aimed at preserving residual beta cell function in type 1 diabetes have been successful, although the effect has been limited, or raised safety concerns. Transient effects often observed may necessitate redosing to prolong the effect, although this is not always feasible or safe. Treatment with intralymphatic GAD-alum has been shown to be tolerable and safe in persons with type 1 diabetes and has shown significant efficacy to preserve C-peptide with associated clinical benefit in individuals with the human leukocyte antigen DR3DQ2 haplotype.

Beyond the Synapse: and FMRP Molecular Mechanisms in the Nucleus.

(Fragile X messenger ribonucleoprotein 1), located on the X-chromosome, encodes the multi-functional FMR1 protein (FMRP), critical to brain development and function. Trinucleotide CGG repeat expansions at this locus cause a range of neurological disorders, collectively referred to as Fragile X-related conditions. The most well-known of these is Fragile X syndrome, a neurodevelopmental disorder associated with syndromic facial features, autism, intellectual disabilities, and seizures.

Loss of CHOP Prevents Joint Degeneration and Pain in a Mouse Model of Pseudoachondroplasia.

Pseudoachondroplasia (PSACH), a severe dwarfing condition characterized by impaired skeletal growth and early joint degeneration, results from mutations in cartilage oligomeric matrix protein (COMP). These mutations disrupt normal protein folding, leading to the accumulation of misfolded COMP in chondrocytes. The MT-COMP mouse is a murine model of PSACH that expresses D469del human COMP in response to doxycycline and replicates the PSACH chondrocyte and clinical pathology.

Portrait of a Cerebral Killer.

: Primary amebic meningoencephalitis (PAM) caused by is a rare and devastating infection of the central nervous system, often diagnosed late, due to its rapid progression and nonspecific symptoms. We report one of the youngest documented pediatric Vietnamese cases of PAM in a 10-month-old girl from the Mekong Delta, Vietnam. The diagnosis was confirmed through multiplex real-time PCR (MPL-rPCR), microscopy, and sequencing.

Challenges in Diagnosing Focal Liver Lesions Using Contrast-Enhanced Ultrasound.

Contrast-enhanced ultrasound (CEUS) has become the preferred method for many clinicians in evaluating focal liver lesions (FLLs) initially identified through standard ultrasound. However, in clinical practice, certain lesions may deviate from the typical enhancement patterns outlined in EFSUMB guidelines. This study aims to assess FLLs that remained inconclusive or misdiagnosed after CEUS evaluation, spanning eight years of single-center experience.

Rationale, design, and methodology of My Body Is Fit and Fabulous at school (MyBFF@school) study: a multi-pronged intervention program to combat obesity among Malaysian schoolchildren.

Background: Childhood obesity has increased rapidly in recent years and is now a global epidemic. To combat this, MyBFF@school program, a multi-faceted obesity intervention incorporating physical activity in the form of small-sided games (SSG), nutrition, and psychology components for schoolchildren was designed. This paper is aimed at describing the protocol of the MyBFF@school program and presenting the baseline findings including the overweight and obesity prevalence.

Identifying novel response markers for spinal muscular atrophy revealed by targeted proteomics following gene therapy.

Spinal muscular atrophy (SMA) is a progressive disease that affects motor neurons, with symptoms usually starting in infancy or early childhood. Recent breakthroughs in treatments targeting SMA have improved both lifespan and quality of life for infants and children with the disease. Given the impact of these treatments, it is essential to develop methods for managing treatment-induced changes in disease characteristics.

Lentivirus-mediated gene therapy for Fabry disease: 5-year End-of-Study results from the Canadian FACTs trial.

Background: Fabry disease is an X-linked lysosomal storage disorder due to a deficiency of α-galactosidase A (α-gal A) activity. Our goal was to correct the enzyme deficiency in Fabry patients by transferring the cDNA for α-gal A into their CD34+ hematopoietic stem/progenitor cells (HSPCs). Overexpression of α-gal A leads to secretion of the hydrolase; which can be taken up and used by uncorrected bystander cells.

Dent disease: Clinical Practice Recommendations.

Dent disease is a rare X-linked tubulopathy that is characterized by low-molecular-weight (LMW) proteinuria associated with hypercalciuria, which may lead to nephrolithiasis, nephrocalcinosis, and kidney failure between the 3rd and the 5th decades of life in 30-80% of affected males. The disease is most often associated with various manifestations of proximal tubular dysfunction. Affected individuals may present nephrotic range proteinuria which may be misinterpreted and cause diagnostic delay.

Efficacy and safety of nasal high-frequency oscillation in preventing intubation in very-low-birth-weight infants with respiratory distress syndrome.

Background: Invasive mechanical ventilation in very-low-birth-weight infants (VLBWI) was associated with immediate and long-term complications. Nasal high-frequency oscillation (nHFO) has recently become a new non-invasive ventilation (NIV) mode for treating respiratory failure in VLBWI. This study aimed to investigate the safety and efficacy of nHFO as an alternative respiratory support to prevent intubation in VLBWI.

[Management of a fetus suspected of differences of sex development (DSD).].

The management of a fetus suspected of having a variation in genital development is a complex situation. In cases of complete discordance or an unusual appearance of the external genitalia (EG), management always begins with a diagnostic morphological ultrasound. This ultrasound aims to provide detailed imaging of the EG and internal genitalia (IG), focusing on identifying the presence of Müllerian derivatives and detecting any associated malformations.