World journal of clinical pediatrics最新文献

Breastfeeding practices are influenced by multifactorial determinants including individual characteristics, external support systems, and media influences. This commentary emphasizes such complex factors influencing breastfeeding practices. Potential methodological limitations and the need for diverse sampling in studying breastfeeding practices are highlighted. Further research must explore the interplay between social influences, cultural norms, government policies, and individual factors in shaping maternal breastfeeding decisions.

Background: Genetic factors play an important role in neonatal hyperbilirubinemia (NH) caused by genetic diseases.

Aim: To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.

Methods: This was a retrospective cohort study. One hundred and five newborn patients diagnosed with NH caused by genetic diseases were enrolled in this study between September 2020 and June 2023 at the Second Affiliated Hospital of Xiamen Medical College. A 24-gene panel was used for gene sequencing to analyze gene mutations in patients. The data were analyzed via Statistical Package for the Social Sciences 20.0 software.

Results: Seventeen frequently mutated genes were found in the 105 patients. Uridine 5'-diphospho-glucuronosyltransferase 1A1 (UGT1A1) variants were identified among the 68 cases of neonatal Gilbert syndrome. In patients with sodium taurocholate cotransporting polypeptide deficiency, the primary mutation identified was Na+/taurocholate cotransporting polypeptide Ntcp (SLC10A1). Adenosine triphosphatase 7B (ATP7B) mutations primarily occur in patients with hepatolenticular degeneration (Wilson's disease). In addition, we found that UGT1A1 and glucose-6-phosphate dehydrogenase mutations were more common in the high-risk group than in the low-risk group, whereas mutations in SLC10A1, ATP7B, and heterozygous 851del4 mutation were more common in the low-risk group.

Conclusion: Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns.

Background: Childhood malnutrition contributes over half of the childhood mortality around the world, predominantly in South-Asian and sub-Saharan countries.

Aim: To summarize the childhood malnutrition epidemiology along with the comorbid factors associated with it and its management within the community.

Methods: The data collection process involved conducting a comprehensive search using specific keywords such as child nutrition disorders and India with Boolean operators. The search was conducted in the Scopus and PubMed electronic databases.

Results: Inadequate energy consumption initiates pathological alterations in the form of growth retardation, fat, visceral, and muscle loss, a reduction in basal metabolic rate, and a significant reduction in total energy expenditure. It has become evident that malnutrition shows an increased prevalence and incidence rate, despite available guidelines for the management of malnutrition.

Conclusion: Malnutrition can be a major player in the establishment of severe infections that result in significant post discharge mortalities in children. Future trials are required to fill the prime gaps in knowledge regarding the identification of other contributory factors in the pathogenesis of malnutrition and post-discharge infection. New biomarkers for early detection of malnutrition should be the priority of the scientific community for the early management of malnutrition.

Background: The global rise in the prevalence of type 2 diabetes mellitus (T2DM) in children and adolescents is partly linked to the increasing rates of childhood obesity and physical inactivity.

Aim: To explore the independent relationships of visceral adiposity index (VAI) and cardiorespiratory fitness (CRF) with fasting plasma glucose (FPG) in adolescents.

Methods: This descriptive cross-sectional study included 403 adolescents (202 boys and 201 girls) aged 11-19 years. Participants were evaluated for VAI, CRF, and FPG. Regression models, adjusted for age and maturity status, were used to assess the associations between VAI, CRF, and FPG.

Results: The prevalence of T2DM risk was 15.3% (girls = 7.4%; boys = 7.9%). In boys, high VAI was positively associated with FPG (β = 0.190, P = 0.009), while low CRF was negatively associated with FPG (β = -0.206, P = 0.010). These associations persisted even after adjusting for CRF and VAI. However, no significant associations between VAI, CRF, and FPG were observed in girls (P > 0.05). Adolescents with high VAI and low fitness levels demonstrated poorer glycemic profiles.

Conclusion: Among boys, both VAI and CRF were independently associated with T2DM risk, with CRF showing a stronger association. These associations were not observed in girls. Promoting regular aerobic exercise and healthy diets may serve as essential public health promotion strategies in preventing and managing T2DM risk in adolescents.

Background: Thus far, genetic analysis of patients clinically diagnosed with glycogen storage diseases (GSDs) in Thailand has not been reported.

Aim: To evaluate the clinical and biochemical profiles, molecular analysis and long-term outcomes of Thai children diagnosed with hepatic GSD.

Methods: Children aged < 18 years diagnosed with hepatic GSD and followed up at King Chulalongkorn Memorial Hospital were recruited. Whole-exome sequencing (WES) was performed to identify the causative gene variants. Medical records were assessed.

Results: All eight children with histopathologically confirmed diagnosis were classified by WES into subtypes Ia (n = 1), III (n = 3), VI (n = 3), and IX (n = 1). A total number of 10 variants were identified including G6PC (n = 1), AGL (n = 4), PYGL (n = 5), and PHKA2 (n = 1). AGL had two novel variants. The clinical manifestations were hepatomegaly (n = 8), doll-like facies (n = 3), wasting (n = 2), and stunting (n = 5). All patients showed hypoglycemia, transaminitis, and dyslipidemia. The mainstay of treatment was cornstarch supplementation and high-protein and low-lactose-fructose diet. After a median follow-up time of 9.59 years, height turned to normal for age in 3/5 patients and none had malnutrition. Liver enzymes, blood sugar, and lipid profiles improved in all.

Conclusion: Hepatomegaly, transaminitis, and hypoglycemia are the hallmarks of GSD confirmed by liver histopathology. Molecular analysis can confirm the diagnosis or classify the subtype that might benefit from personalized treatment, prognosis, and long-term care.

Background: Autism spectrum disorder (ASD) presents unique challenges related to feeding and nutritional management. Children with ASD often experience feeding difficulties, including food selectivity, refusal, and gastrointestinal issues. Various interventions have been explored to address these challenges, including dietary modifications, vitamin supplementation, feeding therapy, and behavioral interventions.

Aim: To provide a comprehensive overview of the current evidence on nutritional management in ASD. We examine the effectiveness of dietary interventions, vitamin supplements, feeding therapy, behavioral interventions, and mealtime practices in addressing the feeding challenges and nutritional needs of children with ASD.

Methods: We systematically searched relevant literature up to June 2024, using databases such as PubMed, PsycINFO, and Scopus. Studies were included if they investigated dietary interventions, nutritional supplements, or behavioral strategies to improve feeding behaviors in children with ASD. We assessed the quality of the studies and synthesized findings on the impact of various interventions on feeding difficulties and nutritional outcomes. Data extraction focused on intervention types, study designs, participant characteristics, outcomes measured, and intervention effectiveness.

Results: The review identified 316 studies that met the inclusion criteria. The evidence indicates that while dietary interventions and nutritional supplements may offer benefits in managing specific symptoms or deficiencies, the effectiveness of these approaches varies. Feeding therapy and behavioral interventions, including gradual exposure and positive reinforcement, promise to improve food acceptance and mealtime behaviors. The findings also highlight the importance of creating supportive mealtime environments tailored to the sensory and behavioral needs of children with ASD.

Conclusion: Nutritional management for children with ASD requires a multifaceted approach that includes dietary modifications, supplementation, feeding therapy, and behavioral strategies. The review underscores the need for personalized interventions and further research to refine treatment protocols and improve outcomes. Collaborative efforts among healthcare providers, educators, and families are essential to optimize this population's nutritional health and feeding practices. Enhancing our understanding of intervention sustainability and long-term outcomes is essential for optimizing care and improving the quality of life for children with ASD and their families.

Background: Globally, obesity and diabetes mellitus (DM) are emergent public health concerns in the adolescent population. India, home to the largest adolescent population and the second largest diabetes cohort is experiencing rapid but unplanned urbanization, with accompanying unhealthy nutritional transition, and sedentary lifestyle.

Aim: To determine prevalence and determinants of obesity and hyperglycaemia and their association among community-dwelling older adolescents (15-19 years) in India.

Methods: This cross-sectional analysis from the national family health survey-5 included data of 258028 adolescents aged 15-19 across India (2019-2021). The survey employed stratified two-stage sampling, with systematic random sampling in rural and urban areas. Statistical analysis included descriptive statistics, bivariate, and multivariable logistic regression, employing generalized linear models.

Results: The weighted prevalence of DM was 1.09% including 0.77% [95% confidence interval (CI): 0.72-0.83] previously diagnosed and 0.32% (95%CI: 0.29-0.35) newly diagnosed cases detected on survey screening. On adjusted analysis, increasing age, higher education levels, higher wealth index, and overweight/obesity were the factors significantly associated with presence of DM. Only 61% of the adolescents with previously diagnosed DM were on anti-diabetes treatment. The weighted prevalence of overweight/obesity among older adolescents was 6.9% with significantly higher odds in the male sex, having higher educational levels, urban residence, and those with a higher wealth index.

Conclusion: Nearly one in hundred older adolescents in India have diabetes, with one in three undiagnosed. Strengthening DM screening and treatment access among adolescents through public health programs is urgently warranted.

This editorial reflects on the research, which investigates the potential of serum markers to predict the severity of Mycoplasma pneumoniae infections. Mycoplasma pneumoniae pneumonia (MPP) is a prevalent cause of respiratory infections in children, often leading to significant morbidity. Predicting the severity of MPP can significantly enhance patient management and outcomes. This editorial reviews the role of specific laboratory markers: (1) Lactate dehydrogenase; (2) Interleukin (IL)-6; (3) IL-10; (4) Tumor necrosis factor-α; and (5) D-dimer in predicting the severity of MPP in pediatric patients. Elevated levels of these markers are strongly associated with severe cases of MPP, providing clinicians with valuable tools for early diagnosis and targeted intervention.

Background: Congenital heart disease is most commonly seen in neonates and it is a major cause of pediatric illness and childhood morbidity and mortality.

Aim: To identify and build the best predictive model for predicting cyanotic and acyanotic congenital heart disease in children during pregnancy and identify their potential risk factors.

Methods: The data were collected from the Pediatric Cardiology Department at Chaudhry Pervaiz Elahi Institute of Cardiology Multan, Pakistan from December 2017 to October 2019. A sample of 3900 mothers whose children were diagnosed with cyanotic or acyanotic congenital heart disease was taken. Multivariate outlier detection methods were used to identify the potential outliers. Different machine learning models were compared, and the best-fitted model was selected using the area under the curve, sensitivity, and specificity of the models.

Results: Out of 3900 patients included, about 69.5% had acyanotic and 30.5% had cyanotic congenital heart disease. Males had more cases of acyanotic (53.6%) and cyanotic (54.5%) congenital heart disease as compared to females. The odds of having cyanotic was 1.28 times higher for children whose mothers used more fast food frequently during pregnancy. The artificial neural network model was selected as the best predictive model with an area under the curve of 0.9012, sensitivity of 65.76%, and specificity of 97.23%.

Conclusion: Children having a positive family history are at very high risk of having cyanotic and acyanotic congenital heart disease. Males are more at risk and their mothers need more care, good food, and physical activity during pregnancy. The best-fitted model for predicting cyanotic and acyanotic congenital heart disease is the artificial neural network. The results obtained and the best model identified will be useful for medical practitioners and public health scientists for an informed decision-making process about the earlier diagnosis and improve the health condition of children in Pakistan.

Background: Diazoxide is the sole approved drug for congenital hyperinsulinism; however, diuretic administration and vigilant monitoring are crucial to prevent and promptly identify potentially life-threatening adverse effects. This report aims to highlight a seldom-considered rare side effect of diazoxide. We believe that this brief report is of general interest to World Journal of Clinical Pediatric readership and increase the physicians' awareness of the guideline importance. Moreover, it underlines the importance of stopping immediately the drug if suspected side effects.

Case summary: The manuscript describes a patient diagnosed with congenital hyperinsulinism (CHI) treated with diazoxide not overlapping with diuretic. He resulted in sudden respiratory distress and therefore was transferred to the Neonatal Intensive Care Unit. The cardiological evaluation showed pericardial effusion and left ventricular myocardial hypertrophy, absent before. In suspicion of an iatrogenic effect of diazoxide it was progressively reduced until stop while introducing diuretic treatment, with resolution of symptoms. Once clinically stabilized, an 18 fluoro-diydroxy-phenylalanine positron emission tomography/computed tomography (PET/CT) was performed to differentiate between a focal or diffuse form of CHI. The PET/CT highlighted the presence of a single focal accumulation of the tracer located in the pancreatic tail, consistent with a focal form of hyperinsulinism. At the age of four months, the patient underwent a distal pancreatectomy with histological confirmation of a focal form of nesidioblastosis, resulting in a curative operation.

Conclusion: Diuretic administration and vigilant monitoring of diazoxide therapy are crucial to prevent and promptly identify potentially life-threatening adverse effects.