pediatrics reviews

OBJECTIVES: The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy...

BACKGROUND: Intensive care research has predominantly relied on conventional methods like randomized controlled trials. However, the increasing popularity of open-access, free databases in the past decade has opened new avenues for research, offering fresh insights. Leveraging machine learning (ML) techniques enables the analysis of trends in a vast number of studies. OBJECTIVE: This study aims to conduct a comprehensive bibliometric analysis using ML to compare trends and research topics in traditional intensive care unit (ICU) studies and those done with open-access databases (OADs)...

OBJECTIVES: Growth failure is one of the major complications of pediatric chronic kidney disease. Even after a kidney transplant (KT), up to 50 % of patients fail to achieve the expected final height. This study aimed to assess longitudinal growth after KT and identify factors influencing it. METHODS: A retrospective observational study was performed. We reviewed the clinical records of all patients who underwent KT for 25 years in a single center (n=149) and performed telephone interviews...

OBJECTIVE: To ascertain the presence of catatonia in cases of pediatric postoperative cerebellar mutism syndrome (PPCMS). METHOD: A systematic review of PPCMS case reports of patients aged 0-17 years with sufficient clinical information to extract catatonic phenomena was undertaken following PRISMA guidelines. Standardized catatonia rating scales were applied to selected cases retrospectively to ascertain whether diagnostic criteria for catatonia were met. A case known to the authors is also presented...

PURPOSE: Over the past several decades, numerous articles have been published on brainstem tumors. However, there has been limited bibliometric analysis in this field. Therefore, we conducted a bibliometric analysis to elucidate the evolution and current status of brainstem tumor research. METHODS: We retrieved 5525 studies published in English between 1992 and 2023 from the Web of Science Core Collection database. We employed bibliometric tools and VOSviewer to conduct the analysis...

INTRODUCTION: The dextroamphetamine transdermal system (d-ATS) is a stimulant patch recently approved by the United States (U.S.) Food and Drug Administration for the treatment of attention-deficit/hyperactivity disorder (ADHD). AREAS COVERED: The composition of the d-ATS, pharmacokinetics, and metabolism are presented along with data from dermal trials evaluating the tolerability of patch application at various skin sites. Efficacy and safety data from a laboratory classroom study in children and adolescents including effect sizes are assessed...

OBJECTIVES: Management of hypotension is a fundamental part of pediatric critical care, with cardiovascular support in the form of fluids or vasoactive drugs offered to every hypotensive child. However, optimal blood pressure (BP) targets are unknown. The PRotocolised Evaluation of PermiSSive BP Targets Versus Usual CaRE (PRESSURE) trial aims to evaluate the clinical and cost-effectiveness of a permissive mean arterial pressure (MAP) target of greater than a fifth centile for age compared with usual care...

Adolescents face issues regarding physical health, mental health, sexual health, drug and alcohol problems, stress, and peer pressure. Little is known about adolescents' help-seeking behaviours in relation to health concerns. The general practitioner (GP) is usually the first point of contact for adolescents. The aim of this systematic review was to identify, describe, and summarize evidence on barriers and enablers experienced by adolescents when accessing GP-led primary care services. Systematic searches using four electronic databases (PsycINFO, MEDLINE, CINAHL, and SocINDEX) were conducted and the quality of the included studies was appraised...

BACKGROUND: To date, few studies have compared the effectiveness of exogenous surfactant therapy with Curosurf and Beraksurf in the treatment of respiratory distress syndrome (RDS) in preterm neonates. OBJECTIVE: Since surfactant has a significant impact on the treatment of neonates with RDS, this study was conducted to introduce a more effective method for treating preterm neonates with RDS. METHODS: The present clinical trial was conducted on 140 preterm neonates with RDS in the NICU department of two specialized university hospitals in Hamadan, western Iran...

BACKGROUND: Bronchopulmonary Dysplasia (BPD) has a multifactorial etiology. Vitamin E and vitamin D play an important role in lung development and can potentially be beneficial in the prevention of BPD. OBJECTIVE: The study aimed to compare the risk of BPD occurrence in preterm neonates supplemented with vitamin D or E versus those who did not get supplementation. METHODS: The literature search was conducted for this systematic review by searching the PubMed, Scopus, and Web of Science databases up to December 2022...

Human challenge studies, in which human research subjects are intentionally exposed to pathogens to contribute to scientific knowledge, raise many ethical complexities. One controversial question is whether it is ethically permissible to include children as participants. Commentary of the past decades endorses the exclusion of children, while new guidance suggests that pediatric human challenge studies can be ethically permissible. This paper argues that neither children's exclusion nor their inclusion are well justified...

Nonsteroidal anti-inflammatory drugs (NSAIDs) are among the most widely used and prescribed medications because of their important role in reducing inflammation and pain, in addition to their non-addictive properties and safety profiles. However, some studies have documented an association between NSAIDs and delayed union or nonunion of joint arthrodesis procedures due to a potential inhibition of the bone's inflammatory healing response. As a result, some orthopedic surgeons hesitate to prescribe NSAIDs after an arthrodesis procedure...

BACKGROUND: Pilocytic astrocytoma (PA) is a benign glial tumor predominately seen in pediatrics and early adolescence with associated overall good outcomes. Very few cases of elderly PA have been reported in the literature, and they are known to display unique anatomic, histologic, and genetic peculiarities distinct from pediatric disease. We report a rare case of vermian PA in an octogenarian with recurrent spontaneous intratumoral hemorrhage as a presenting symptom. Furthermore, a review of the literature on the peculiarities of PA in the elderly will be discussed...

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder that is characterized by bowing of long bones, dysautonomia, temperature dysregulation, swallowing and feeding difficulties, and frequent respiratory infections. Respiratory distress and hyperthermic events are the leading causes of early neonatal death, and most patients are not expected to survive past infancy. Here, we report on the survival of a 5-year-old male with SWS, discussing his case presentation, providing a brief clinical course, and discussing the outcome...

BACKGROUND: The right atrial aneurysm is a rare cardiac malformation of unknown origin. It is typically asymptomatic but can occasionally lead to life-threatening and serious complications. CASE DESCRIPTION: We present a case of a right atrial aneurysm in an eight-year-old child who experienced complications including rupture of the atrial aneurysm, thrombosis, and recurrent large pericardial effusions over a one-month period. Following surgical treatment, the child had a favorable prognosis...

While ulceration is one of the most common infantile hemangioma (IH) complications, severe bleeding is a rare consequence, with a paucity of patients reported. We report a 5-month-old girl with a very large, mixed, partial segmental IH of the upper chest wall who, despite medical intervention, developed severe ulceration and multiple episodes of life-threatening bleeding that ultimately led to hemorrhagic shock. Experience in our patient and a review of six previous reports shows that severe bleeding is a risk when ulceration extends directly into an arterial feeding vessel that is often visible clinically...

PURPOSE: Although lomustine has been used as a chemotherapeutic agent for decades, no recommendation on appropriate chemotherapy-induced nausea and vomiting (CINV) prophylaxis is available. As CINV is considered one of the most bothersome side effects of chemotherapy, adequate prophylaxis is of relevance to improve quality of life during cancer treatment. The aim of this retrospective case series was to report the incidence and severity of CINV in pediatric patients with high-grade glioma treated with lomustine and to formulate recommendations for appropriate CINV prophylaxis...

BACKGROUND: Previous research has indicated a negative correlation between exclusive breastfeeding and the incidence of Kawasaki disease (KD). However, the validation of this discovery through meta-analytical studies has been lacking. Furthermore, uncertainties persist regarding whether breastfeeding reduces the risk of coronary artery lesions (CAL) or resistance to intravenous immunoglobulin (IVIG). METHODS: A systematic exploration of the MEDLINE, Cochrane Central Register of Controlled Trials (CENTRAL), PubMed, EMBASE, and ClinicalTrials...

Mitochondrial DNA (mtDNA) variants cause a range of diseases from severe pediatric syndromes to aging-related conditions. The percentage of mtDNA copies carrying a pathogenic variant, variant allele frequency (VAF), must reach a threshold before a biochemical defect occurs, termed the biochemical threshold. Whether the often-cited biochemical threshold of >60% VAF is similar across mtDNA variants and cell types is unclear. In our systematic review, we sought to identify the biochemical threshold of mtDNA variants in relation to VAF by human tissue/cell type...

OBJECTIVE: Recovery from acute wheeze and asthma attacks should be supported with safety netting, including treatment advice. We evaluated emergency department (ED) discharge practices for acute childhood wheeze/asthma attacks to describe variation in safety netting and recovery bronchodilator dosing. DESIGN: Two-phase study between June 2020 and September 2021, comprising (1) Departmental discharge practice survey, and (2) Analysis of written discharge instructions for caregivers...