Current Pediatric Reviews最新文献

Non-alcoholic fatty liver disease (NAFLD) is now identified as a hepatic sign of metabolic syndrome and is the most frequent cause of chronic liver disease in all ages. It is assumed that a genetic predisposition associated with epigenetic factors participates in the evolution of this condition. Visceral obesity and insulin resistance (IR) have always been considered the most important causative factors of Metabolic Syndrome (MetS) and NAFLD, but currently, the interaction between genetic heritage and environmental factors is increasingly considered fundamental in the genesis of metabolic disorders associated with NAFLD. In fact, in patients with NAFLD, insulin resistance, arterial hypertension, abdominal obesity, dyslipidemia and reduced intestinal permeability have often been found, as well as a higher prevalence of coronary artery disease, obstructive sleep apnea, polycystic ovary syndrome and osteopenia, which define a MetS framework. Early diagnosis is needed to prevent disease progression through primarily lifestyle interventions. Unfortunately, at present, there are no molecules recommended for pediatric patients. However, several new drugs are in clinical trials. For this reason, targeted studies on the interaction between genetics and environmental factors involved in the development of NAFLD and MetS and on the pathogenetic mechanisms that determine the evolution in non-alcoholic steatohepatitis (NASH), should be implemented. Therefore, it is desirable that future studies may be useful in identifying patients at risk of developing NAFLD and MetS early.

The Hyper IgE Syndromes are rare primary immunodeficiencies characterized by eczema, recurrent skin and respiratory infections and elevated serum IgE levels. Nowadays a geneticmolecular characterization is possible and allows the distinction in various monogenic pathologies, which share some clinical characteristics but also important differences. In addition to long-known STAT3 and DOCK8 gene mutations, in fact, also ZNF341, CARD11, ERBB2IP, IL6R and IL6ST genes mutations can cause the disease. The main clinical manifestations are represented by newborn rash, eczema similar to atopic dermatitis, bacterial and viral skin infections, cold abscesses, respiratory infections with possible pulmonary complications, allergies, gastrointestinal manifestations, malignancies and connective tissue abnormalities. Diagnosis is still a challenge because, especially in the early stages of life, it is difficult to distinguish from other pathologies characterized by eczema and high IgE, such as atopic dermatitis. Several scores and diagnostic pathways have been developed, but it is essential to seek a genetic diagnosis. Treatment is based on prevention and early treatment of infections, meticulous skincare, intravenous immunoglobulins and HSCT, which, in some HIES subtypes, can modify the prognosis. Prognosis is related to the affected gene, but also to early diagnosis, timely treatment of infections and early HSCT.

Background: Infectious mononucleosis is common among adolescents and young adults. Although the majority of cases resolve spontaneously, life-threatening manifestations, and complications have been recognised.

Objective: The purpose of this article is to familiarize clinicians with the clinical manifestations, evaluation, diagnosis, and management of infectious mononucleosis.

Methods: A search was conducted in October 2022 in PubMed Clinical Queries using the key terms "infectious mononucleosis" OR "Epstein-Barr virus" OR "EBV". The search strategy included all clinical trials, observational studies, and reviews published within the past 10 years. Only papers published in the English literature were included in this review. The information retrieved from the aforementioned search was used in the compilation of the present article.

Results: Infectious mononucleosis, caused by Epstein-Barr virus, most commonly affects adolescents and adults aged 15 to 24 years. Epstein-Barr virus is transmitted primarily in saliva. Infectious mononucleosis is characterized by a triad of fever, tonsillar pharyngitis, and lymphadenopathy. Fatigue may be profound but tends to resolve within three months. Periorbital and/or palpebral edema, typically bilateral, occurs in one-third of patients. Splenomegaly and hepatomegaly occur in approximately 50% and 10% of cases, respectively. A skin rash, which is usually widely scattered, erythematous, and maculopapular, occurs in approximately 10 to 45% of cases. Peripheral blood leukocytosis is observed in most patients; lymphocytes make up at least 50% of the white blood cell differential count. Atypical lymphocytes constitute more than 10% of the total lymphocyte count. The classic test for infectious mononucleosis is the demonstration of heterophile antibodies. The monospot test is the most widely used method to detect the serum heterophile antibodies of infectious mononucleosis. When confirmation of the diagnosis of infectious mononucleosis is required in patients with mononucleosis-like illness and a negative mono-spot test, serologic testing for antibodies to viral capsid antigens is recommended. Infectious mononucleosis is a risk factor for chronic fatigue syndrome. Spontaneous splenic rupture occurs in 0.1 to 0.5% of patients with infectious mononucleosis and is potentially life-threatening. Treatment is mainly supportive. Reduction of activity and bed rest as tolerated are recommended. Patients should be advised to avoid contact sports or strenuous exercise for 8 weeks or while splenomegaly is still present. Most patients have an uneventful recovery.

Conclusion: Infectious mononucleosis is generally a benign and self-limited disease. Prompt diagnosis is essential to avoid unnecessary investigations and treatments and to minimize complications. Splenic rupture is the most feared complication. As avoiding expos

Limping refers to an asymmetrical gait that deviates from the typical gait pattern expected for a child of a certain age. In most children, limping is caused by a mild, self-limiting event, such as a contusion, strain, or sprain. However, a child's limping is always a pathological finding that poses a particular diagnostic challenge and necessitates a thorough assessment. The pediatrician must weigh a wide range of acute and chronic potential causes of a non-traumatic limp, including infection, neoplasia, and chronic inflammatory disorders. A thorough history and clinical examination will help us arrive at the correct diagnosis. Understanding the typical gait is essential to recognizing and correctly interpreting the disordered one. The examination of child limping involves using a variety of diagnostic methods. Efficient and cost-effective diagnosis and treatment of the underlying condition requires a systematic approach. This review provides the pediatric rheumatologist perspective and approach for evaluating non-traumatic limp in children, with a focus on the use of point-of-care (PoC) musculoskeletal ultrasound (MSUS) as a crucial tool in daily practice.

Background: Acute bronchiolitis is a viral infection of the lower respiratory tract affecting infants aged under 12 months, variably presenting with respiratory distress, diffuse crackles and inflammatory wheezing. The main causative agent is Respiratory Syncytial Virus (RSV). The diagnosis is clinical and treatment mainly supportive. Despite the availability of more than 30 international guidelines, consistent management recommendations are lacking and considerable variability in patients' care persists among different providers.

Objective: To review and describe current knowledge about epidemiology, physiopathology, clinic, diagnosis and management of acute bronchiolitis, with particular emphasis on updated evidence and future perspectives in terms of treatment and prevention.

Methods and results: We searched Cochrane for systematic reviews and PubMed for scientific articles published in the last 10 years, using a combination of the following search terms: "bronchiolitis", "respiratory syncytial virus", "epidemiology", "risk factors", "severity", "diagnosis", "clinic", "diagnostic imaging", "management", "asthma", "wheezing", "bronchodilator", "steroids", "hypertonic saline", "oxygen", "blood gas analysis", "HHHFNC", "rehydration", "enteral feeding", "parenteral hydration", "prevention", "vaccine" and "COVID-19 or SARS-CoV2". We accordingly performed a deep and extensive selection of the most updated and considerable literature on the matter, summarizing the most significant evidence concerning all aspects of acute bronchiolitis (epidemiology, clinic, diagnosis, management and prevention). Furthermore, we examined references and available guidelines from UK, USA, Canada, Italy and Spain. Results are extensively discussed below.

Conclusion: Although acute bronchiolitis has been a widely known disease for decades, its therapeutic approach remained unchanged and essentially limited to respiratory and metabolic support. Despite the abundance of studies, there is no significant evidence concerning therapeutic alternatives (e.g. steroids, inhaled hypertonic solution), which are therefore not recommended. According to most recent data, "acute bronchiolitis" definition encompasses a plethora of different clinical entities related to each subject's genetic and immune predisposition. Therefore, future research should focus on the precise characterization of such subcategories in order to individualize therapeutic management and ensure the most appropriate evidence-based care.

Background: Intraventricular hemorrhage (IVH) (is the most prevalent type of cerebrovascular accident in premature infants, which can result in lasting neurological complications. The aim of this study was to ascertain the frequency of IVH and its associated risk factors within our particular context.

Materials and methods: This cross-sectional study was carried out in a tertiary neonatal intensive care unit of a maternal and neonatal hospital from September 2018 to August 2019. Premature infants under 34 weeks of age and with birth weight < 1500 grams who did not have significant congenital anomalies participated in the study. A brain ultrasound was performed by a sonologist during the first week. The infants were subsequently categorized into two groups: those with and without IVH. A comparative analysis was conducted using the chi-square test and logistic regression. A significance level of p<0.05 was considered statistically significant.

Results: Of the 205 premature infants who completed the study, IVH was reported in 107 cases (52.1%), of which 97.3% of ventricular hemorrhages were grade I and II and 2.7% accounted for severe bleeding (grade III and IV). Gestational age less than 28 weeks, weight less than 1000 g, vaginal delivery, asphyxia and resuscitation, history of intubation and mechanical ventilation, cord blood acidity, dopamine infusion, and history of fever and chorioamnionitis in the mother have been found to be significantly associated with increased risk of IVH (p<0.001). Antenatal corticosteroids decreased the risk (OR=10.63).

Conclusion: In this study, IVH has been found to be common in infants under 1500 g of weight, but the severe form was low in frequency and was observed significantly in high-risk pregnancies.

Background: Omega-3 fatty acids (FAs) are essential long-chain polyunsaturated fatty acids (LCPUFAs) that are essential for optimal health and development.

Objective: The present study aimed to evaluate the effectiveness of maternal fish oil (containing omega-3 LCPUFA) intake from 21th week of pregnancy to 30 days postpartum for neurodevelopment and growth of infants at 9 and 12 months.

Methods: This was a follow-up study of a triple-blinded clinical trial. The study population was 9- month-old infants. Their mothers were randomly divided into two groups of 75 people with a 1:1 ratio to take one fish oil supplement or a placebo daily. The anthropometric indicators of infants at months 9 and 12 and neurodevelopment at month 12 by the ASQ questionnaire were measured. In the fish oil and placebo groups, respectively, 73 and 71 infants at nine months, as well as 71 and 69 at 12 months, were analyzed.

Results: No statistically significant impact was observed following consuming omega-3 capsules on the neurodevelopmental domains, growth parameters, and the profile of maternal serum FAs (p > 0.05) except DHA. Neurodevelopmental problems were illustrated in one case in the intervention group and two cases in the placebo group.

Conclusion: Perinatal relatively low-dose omega-3 LCPUFAs supplements indicated no statistically significant impacts on the growth and neurodevelopment of 9- and 12-month-old infants in a population with low consumption of marine products. Further studies investigating the effect of higher doses of omega-3 LCPUFAs are suggested.