Current Pediatric Reviews最新文献

Familial Hypercholesterolemia (FH) is one of the best-characterized inborn errors of metabolism, with an estimated prevalence of 1:250 in the general population. Only approximately 10% of the affected subjects are diagnosed and, therefore, under medical care, including drug therapy or, in severe cases, apheresis. Screening at the age of 6-10 years would be useful and cost-effective. There is enough evidence that children and adolescents with FH should be treated in order to reduce elevated Total cholesterol and LDL-c levels and, therefore, avoid the risk of early cardiovascular diseases. As FH was described more than 130 years ago, it is surprising that the knowledge of that very important metabolic disorder is insufficient. The present report describes clinical and pathophysiological characteristics and nutritional and medical therapies in children with familial hypercholesterolemia.

Over the past decades, an increased importance has been given to gastrointestinal (GI) endoscopy in the management of children with inflammatory bowel diseases (IBD), considering that mucosal healing has been recognized as the optimal endpoint in the treat-to-target paradigm. The recent advances in technology and anesthesia have facilitated the comprehensive evaluation of the GI tract. In this review, we will discuss the role of ileocolonoscopy, upper GI endoscopy, and device-assisted enteroscopy in the work-up and management of pediatric Crohn's disease (CD) and ulcerative colitis, with particular attention on non-invasive endoscopic techniques, such as wireless capsule endoscopy. We will also analyze the most commonly used endoscopic scoring systems, including small bowel scoring systems and endoscopic recurrence grading of neo-terminal ileum CD. Moreover, we will focus on the endoscopic management of complications, such as strictures, that commonly require surgery. Lastly, we will discuss cancer surveillance in children with IBD, with particular consideration of the role of high-definition endoscopic equipment and chromoendoscopy in dysplasia detection rates.

Purpose: The survival of paediatric oncology patients has improved substantially in the past decades due to advances in the field of oncology. Modern cancer treatments often come with life-threatening complications, of which infection is one of the most common causes in this patient population. This study aims to investigate the prevalence and outcomes of common infections in haemato-oncology patients during their stay in paediatric intensive care unit (PICU) and to identify any factors associated with these infections.

Methods: A retrospective observational study was conducted on all children with a haemato-oncology diagnosis or who underwent haematopoietic stem cell transplantation (HSCT) and who were admitted to the Hong Kong Children's Hospital PICU over a one-year period. Infection characteristics and patient outcomes were evaluated and compared between different sub-groups. Univariable and multi-variable analyses were employed to identify risk factors associated with the development of active infection.

Results: Forty-five (36.3%) of 124 critically ill haemato-oncology admissions to PICU were associated with infections, of which 31 (25%) admissions involved bacterial infections, 26 (20.9%) involved viral infections and 6 (4.8%) involved fungal infections. Bloodstream infection was the most common type of infection. More than half (61.3%) of the bacterial infections were due to an antibiotic-resistant strain. After adjusting for confounding variables, post-HSCT status and neutropenia were significantly associated with active infections.

Conclusion: Infections in critically-ill haemato-oncological patients are associated with post haematopoietic stem cell transplant status and neutropenia. Further study is warranted to review effective strategies that may mitigate the likelihood of infection in this patient population.

The Prune-Belly (Eagle-Barrett) syndrome (PBS) is a congenital and genetically heterogeneous disease, more prevalent in males, defined by the clinical triad (1) deficiency of abdominal muscles, (2) bilateral cryptorchidism, and (3) urinary tract abnormalities. The abdomen of an infant with PBS has a typical appearance, similar to the aspect of a prune, which gives it its name. Although the etiology of this disorder is still unknown, numerous theories, mutations, and genetic disturbances have been proposed to explain the origin of PBS. Prognosis can differ a lot from one patient to another, since this condition has a wide spectrum of clinical presentation. Despite being a rare condition, the importance of PBS should not be underestimated, in the light of the potential of the disorder to lead to chronic kidney disease and other severe complications. In that regard, this review gathers the most up-to-date knowledge about the etiopathogenesis, clinical features, diagnosis, management and prognosis of PBS.

Introduction: The mechanism of occurrence and complications of asphyxia change in the treatment process and the future prognosis of newborns. One of the discussed mechanisms is the disruption of oxidant anti-oxidant balance. Therefore, the current study was conducted aiming to systematically review and meta-analysis in the diagnosis and prognosis of prenatal asphyxia based on oxidant-antioxidant balance.

Methods: A comprehensive electronic search was conducted with PubMed, Cochrane Library, Scopus, and Web of Science databases, up to February 2023 to identify relevant studies examining the association between Prooxidant anti-oxidant balance (PAB) and Malondialdehyde 1 levels with the risk of prenatal asphyxia. Only English studies were incorporated. The search terms used included Asphyxia, Diagnosis, Prognosis, Newborns, Prenatal, Oxidant antioxidant balance, and oxidative stress. A total of 13 studies were retrieved. Data regarding the standard mean difference (SMD) were collected, and a pooled SMD with 95%CI was calculated using a random-effect model to determine the strength of the relationship. Furthermore, the risk of publication bias was assessed through funnel plot and Egger's linear regression tests. Inclusion criteria was 1) The studies conducted on neonates, diagnosis and outcomes of prenatal asphyxia, oxidants and antioxidants were included. Research conducted on adults or on animals or review articles, and articles which only their abstracts were available were excluded. The quality of the reported studies was also assessed.

Results: Out of 980 searched articles, 13 articles (10 prospective articles and 3 cross-sectional articles) were studied. An increase in antioxidant enzymes (Glutathione peroxidase (GSH-Px), catalase (CAT) and Plasma superoxide dismutase (SOD)) cannot be dealt with excessive oxidants produced in the body (Plasma and cerebrospinal fluid levels of Malondialdehyde (MDA), free radical products (F8-isoprostane and MDA), saturated fatty acids and % CoQ-10). Prooxidant anti-oxidant balance (PAB) levels among neonates who had asphyxia were announced to be two times higher than normal newborns. PAB values in neonates with asphyxia, who had adverse prognosis, were about three times higher than those with favorable prognosis. The sensitivity of PAB in predicting the prognosis of neonates with asphyxia was reported 83- 89% and its specificity was 71- 92%. The pooled SMD analysis revealed a significant association between PAB and MDA levels with the risk of prenatal asphyxia both overall (SMD = 1.447, 95%CI: 0.961-1.934, P < 0.001), as well as separately in subgroups of PAB (SMD = 1.134, 95%CI: 0.623-1.644, P < 0.001) and MDA (SMD = 1.910, 95%CI: 0.916-2.903, P < 0.001).

Conclusion: Our meta-analysis findings revealed the potential of evaluating antioxidant enzymes and oxidant agents, as well as assessing the balance between them (PAB), in

Background: Childhood obesity is significantly influenced by maternal exposure to Per and Poly-Fluoroalkyl Substances (PFAS) during pregnancy. PFAS exposure occurs through the Peroxisome Proliferator-Activated Receptor (PPAR-γ) receptor, leading to increased fat deposition and profound health effects in child growth and development. Despite ongoing investigations, the relationship between maternal serum PFAS concentration and child obesity requires further exploration.

Objective: This study aimed to review the possible effects of Per and poly-fluoroalkyl substances exposure and their mechanism in overweight/obese children from pregnant ladies.

Methods: A detailed literature survey was conducted using online databases, including Science Direct, Google Scholar, Scopus, Cochrane, and PubMed. The study focused on the diverse effects of PFAS on maternal and child health, with particular emphasis on neurological complications.

Results: Child growth development depends upon breastfeeding and placenta health, which is disrupted by PFAS exposure, ultimately destroying the body mass index of the child. Neurotoxicity testing utilized the SH-SY5Y human-derived cell line as an in vitro model, revealing PFAS-induced increases in adipocyte number, reduced cell size, altered lipid conglomeration, increased adiposity, and changes in liver function. in vivo studies in mice and human cell lines indicated PPAR-γ and ER-α activation, leading to adiposity and weight gain through Estrogen signaling and Lipid metabolism. PFAS concentrations positively correlated in maternal sera, analyzed by liquid chromatography/quadrupole mass spectrometry.

Conclusion: PFAS, with a long half-life of 3.5-8.5 years, is commonly found in the serum of pregnant women, crossing the placenta barrier. This exposure disrupts placental homeostasis, negatively impacting mechanisms of action and potentially leading to deterioration in pregnancy and child health. Further research is needed to comprehensively understand the complex interplay between PFAS exposure and its implications for maternal and child well-being.

Background: The COVID-19 global pandemic was caused by a novel coronavirus (SARS-CoV-2), which then became an endemic infection. COVID refers to the World Health Organization's coined acronym for coronavirus disease.

Case presentation: We have, herein, reported three cases of COVIDs that could have been misdiagnosed as COVID-19. All of these families reported previous COVID-19 infection based on selfadministered Rapid Antigen Testing (RAT) and completed a period of home isolation. In these 3 cases, one child had an RSV-associated asthma attack, one had norovirus gastritis, and another had an infection with Campylobacter and E. coli. NL63, OC43, and 229E, respectively, were found by PCR in these patients.

Discussion: Seven human coronaviruses cause human infectious diseases. Confusion and issues associated with coronavirus disease diagnosis by Polymerase Chain Reaction (PCR) testing and Rapid Antigen Test (RAT) may arise. Some RATs are Antigen Fluorescent Immunoassays (FIA) that target monoclonal antibodies for the detection of viral nucleocapsid protein. Others target the non-nucleocapsid proteins. False positivity is possible. False negativity is also possible if the specimen's antigen level is below the test's detection limit. RAT results usually remain positive for 6 to 7 days, but they may stay positive as long as 2 weeks. Stigmatization with the COVID-19 diagnosis may occur. The PCR test is a highly sensitive 'gold standard' for the detection of COVID-19, but it can also detect non-infectious individuals' fragmented non-infectious viral nucleic acids, and could be positive for a long period. An individual may be tested positive for a few weeks to months after the individual becomes non-infectious.

Conclusion: The cases presented here had COVID other than COVID-19, caused by coronavirus variants other than SARS-CoV-2. Co-infections with other pathogens are present in these "Non- COVID-19" COVIDs. PCR testing of non-COVID-19 COVIDs may help in the accurate diagnosis of these ailments and respiratory co-infections.

Background: Cholestatic liver disease is an important cause of morbidity and mortality and a leading indication for liver transplantation in children. These include diseases, such as biliary atresia, Alagille syndrome, progressive familial intrahepatic cholestasis, sclerosing cholangitis, bile acid synthesis defects, and many others.

Case presentation: NGS was used as a diagnostic tool to identify the genetic cause in the patient with cholestatic syndrome and to figure out and describe what mutation will be found. In the present observation, the cholestasis syndrome with low GGT activity and intense pruritus was the leading symptom of the patient. The examination also revealed other characteristic features of osteo- oto-hepato-enteric syndrome. The patient had facial features that mimicked Alagille syndrome, which complicated the diagnostic search. Moreover, the genetic test revealed two new pathogenic variants in the UNC45A gene.

Conclusion: This clinical observation demonstrates the importance of a multidisciplinary approach in the diagnosis of rare genetic diseases and using WES, which can accelerate the diagnosis compared with outdated gene panels.

Malignant tumors of the head and neck are rare in children, but it is important to know these lesions and identify them early in order to have a good outcome for these patients. Benign lesions of the head and neck are much more frequent and have an excellent prognosis. For this reason, it is necessary to recognize the warning signs and symptoms and understand when to refer the patient to a reference center for the treatment of these pathologies. The clinical presentation of both benign and malignant lesions in children may be similar as usually, both categories have compressive effects. This confirms the fact that the clinical diagnosis is not sufficient and always requires instrumental investigations and biopsies. In this narrative review, we analyzed both malignant lesions such as lymphoma, rhabdomyosarcoma, thyroid tumors, salivary gland tumors, neuroblastoma, and nasopharyngeal carcinoma, and benign ones such as cystic dermoid teratoma, hemangioma, juvenile angiofibroma and fibrosis dysplasia. Indeed, we set out to discuss the most common lesions of this site by evaluating their characteristics to highlight the differentiation of malignant tumors from benign lesions and their correct clinical-therapeutic management. A literature search was carried out in the PubMed and Google Scholar databases to identify all narrative reviews addressing malignant and benign head and neck tumors of the pediatric age. In conclusion, the care of children affected by head and neck benign lesions and malignancy must be combined and multidisciplinary. It is essential to recognize the diseases early in order to differentiate and intervene as soon as possible for the correct clinical-therapeutic management.