Disease In Children Research Articles

UK guideline on the transition and management of childhood liver diseases in adulthood.

Improved outcomes of liver disease in childhood and young adulthood have resulted in an increasing number of young adults (YA) entering adult liver services. The adult hepatologist therefore requires a working knowledge in diseases that arise almost exclusively in children and their complications in adulthood. To provide adult hepatologists with succinct guidelines on aspects of transitional care in YA relevant to key disease aetiologies encountered in clinical practice. A systematic literature search was undertaken using the Pubmed, Medline, Web of Knowledge and Cochrane database from 1980 to 2023. MeSH search terms relating to liver diseases ('cholestatic liver diseases', 'biliary atresia', 'metabolic', 'paediatric liver diseases', 'autoimmune liver diseases'), transition to adult care ('transition services', 'young adult services') and adolescent care were used. The quality of evidence and the grading of recommendations were appraised using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. These guidelines deal with the transition of YA and address key aetiologies for the adult hepatologist under the following headings: (1) Models and provision of care; (2) screening and management of mental health disorders; (3) aetiologies; (4) timing and role of liver transplantation; and (5) sexual health and fertility. These are the first nationally developed guidelines on the transition and management of childhood liver diseases in adulthood. They provide a framework upon which to base clinical care, which we envisage will lead to improved outcomes for YA with chronic liver disease.

Teeth can Tell a Story About Childhood!

Tooth enamel is the hardest substance in the human body. It begins forming during pregnancy and the way it forms can provide valuable information about early life. The cells that produce enamel are extremely sensitive to disturbances, so when a child experiences some kinds of stress during enamel development (childhood diseases, fever, or low concentration of oxygen in the blood for example), layers of enamel may contain “scars” reflecting the stressful experience. The type of enamel scars can tell dentists a story about what may have happened before the person was born or shortly after birth. Understanding enamel development is important for knowing the difference between normal enamel and abnormal changes, and such knowledge can help dentists to diagnose and treat enamel issues, to keep the teeth healthy.

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

BackgroundTBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood.MethodsWe developed and distributed a survey to two closed Facebook groups devoted to families of patients with TBL1XR1-related disorder. The survey consisted of 14 subsections focused upon the developmental trajectories of cognitive, behavioral, motor, and other neurological abnormalities. Data were collected and managed using REDCap electronic data capture tools.ResultsCaregivers of 41 patients with a TBL1XR1-related disorder completed the cross-sectional survey. All reported variants affecting a single amino acid, including missense mutations and in-frame deletions, were found in the WD40 repeat regions of Tbl1xr1. These are domains considered important for protein–protein interactions that may plausibly underlie disease pathology. The majority of patients were diagnosed with a neurologic condition before they received their genetic diagnosis. Language appeared most significantly affected with only a minority of the cohort achieving more advanced milestones in this domain.ConclusionTBL1XR1-related disorder encompasses a spectrum of clinical presentations, marked by early developmental delay ranging in severity, with a subset of patients experiencing developmental regression in later childhood.

Incidence, prevalence, and pattern of medical service utilization of children's rare lung diseases in South Korea.

Children's rare lung diseases are a heterogeneous group of rare lung diseases with significant morbidity and mortality. There is very limited information on the incidence and prevalence of children's rare lung diseases in Asia. We investigated the nationwide incidence, prevalence, and pattern of medical service utilization of children's rare lung diseases in Korea. We studied patients who were diagnosed with rare lung diseases coded per International Statistical Classification of Diseases and Related Health Problems, 10th Edition and registered in the national rare diseases database of confirmed patients. Data was extracted from the Korean National Health Insurance Service Claims database over 2019-2021. Average incidence rate was 12.9 new cases per million children per year, and average prevalence rate was 60.2 cases per million children during the study period of 2019-2021. We found that more than 65% of new cases were diagnosed before 2 years of age. ChILD, primary ciliary dyskinesia, and cystic fibrosis were usually diagnosed after 6 years of age. Congenital airway and lung anomalies were often diagnosed before 2 years of age. Busan and Gyeongsangnam-do residents tended to visit hospitals near their place of residence, while residents of other areas tended to visit hospitals in Seoul regardless of their area of residence. We examined the epidemiology of rare lung diseases in children in South Korea. Our estimation of the incidence and prevalence could be used for sustainable health care and equitable distribution of health care resources.

Uveitis and Dry Eye Disease in Children: A Cross-Sectional Comparative Study

ABSTRACT Purpose This study aims to evaluate the ocular surface characteristics in children diagnosed with uveitis and explore the association between uveitis and dry eye disease (DED). Methods We included 84 children, 42 with uveitis and 42 healthy children. We performed the OSDI questionnaire and several ocular surface tests, including osmolarity, NITBUT, Schirmer test, and vital staining. We used Fisher’s exact test and Mann-Whitney to compare variables and a binomial logistic regression to determine the factors associated with DED. Results The difference in the prevalence of DED between uveitis (54.8%) and healthy (31%) groups was statistically significant (p < 0.05). Most patients with uveitis had mixed DED, and none of the healthy subjects had a severe form of the disease. There were no statistically significant differences in most of the tear film tests. However, all parameters tended to worsen in the uveitis group, and lipid layer thickness was thinner (p < 0.036). The uveitis group exhibited significantly more symptoms (p < 0.05). In the multivariate logistic regression, uveitis was associated with an odds ratio (OR) of 3.0 (95% CI: 1.07–8.42, p < 0.05) for DED. Conclusions Our findings demonstrate a significantly higher prevalence of DED in children with uveitis compared to their healthy counterparts. Furthermore, our analysis indicates that the risk of DED in pediatric patients with uveitis is threefold higher than in healthy children. Therefore, it is crucial for clinicians to vigilantly monitor the development of DED in pediatric patients with uveitis and consider the implementation of preventive treatments.

Risk of immune-related diseases in childhood after intrapartum antibiotic exposure

Intrapartum antibiotic prophylaxis is effective in preventing early-onset group B streptococcal disease in newborn infants, but it influences gut microbiota development. Gut microbiota composition is, in turn, associated with immune-related diseases in childhood. This study hypothesized that intrapartum antibiotic exposure is associated with immune-related diseases in childhood. We conducted a population-based cohort study of vaginally delivered children. We retrieved data on intrapartum antibiotic exposure from structured electronic medical records and obtained outcome data on childhood autoimmune, allergic, and obstructive airway diseases from comprehensive national registers. We used Cox regression analysis with adjustment for maternal and neonatal covariates and regarded death as a competing risk in the analyses. The study population comprised 45,575 vaginally born children of whom 9733 (21%) had been exposed to intrapartum antibiotics. Intrapartum antibiotic exposure was associated with an autoimmune disease diagnosis (adjusted hazard ratio, 1.28; 95% confidence interval, 1.02-1.62), which corresponds to 22% (95% confidence interval, 6-39) as a theoretical population-attributable fraction. Intrapartum antibiotic exposure was not associated with diagnoses of allergic (adjusted hazard ratio, 1.08; 95% confidence interval, 0.97-1.20) or obstructive airway diseases (adjusted hazard ratio, 1.04; 95% confidence interval, 0.96-1.14). Intrapartum antibiotic exposure may be associated with an increased risk for autoimmune diseases in childhood. This finding supports the efforts to develop more specific group B streptococcal disease prevention strategies in the future.

Prevalence and Predictive Factors for Celiac Disease in Children With Type 1 Diabetes: Whom and When to Screen? A Nationwide Longitudinal Cohort Study of Swedish Children.

To examine the prevalence and predictive factors for celiac disease (CD) after a diagnosis of type 1 diabetes (T1D) in children and adolescents, to improve the current screening guidelines. The association between sex, age at T1D diagnosis, HLA, and diabetes autoantibodies, and a diagnosis of CD was examined in 5,295 children with T1D from the Better Diabetes Diagnosis study in Sweden. The prevalence of biopsy-proven CD was 9.8%, of which 58.2% already had a CD diagnosis before or at T1D onset. Almost all, 95.9%, were diagnosed with CD within 5 years after the T1D diagnosis. Younger age at the T1D diagnosis and being homozygote for DQ2 increased the risk of CD after T1D, but neither sex nor diabetes-related autoantibodies were associated with the risk. Age at and time after diabetes diagnosis should be considered in screening guidelines for CD in children with T1D.

Enterovirus-D68 - A Reemerging Non-Polio Enterovirus that Causes Severe Respiratory and Neurological Disease in Children.

The past decade has seen the global reemergence and rapid spread of enterovirus D68 (EV-D68), a respiratory pathogen that causes severe respiratory illness and paralysis in children. EV-D68 was first isolated in 1962 from children with pneumonia. Sporadic cases and small outbreaks have been reported since then with a major respiratory disease outbreak in 2014 associated with an increased number of children diagnosed with polio-like paralysis. From 2014-2018, major outbreaks have been reported every other year in a biennial pattern with > 90% of the cases occurring in children under the age of 16. With the outbreak of SARS-CoV-2 and the subsequent COVID-19 pandemic, there was a significant decrease in the prevalence EV-D68 cases along with other respiratory diseases. However, since the relaxation of pandemic social distancing protocols and masking mandates the number of EV-D68 cases have begun to rise again - culminating in another outbreak in 2022. Here we review the virology, pathogenesis, and the immune response to EV-D68, and discuss the epidemiology of EV-D68 infections and the divergence of contemporary strains from historical strains. Finally, we highlight some of the key challenges in the field that remain to be addressed.

Not Only Metabolic Complications of Childhood Obesity.

The increasing incidence of obesity in the pediatric population requires attention to its serious complications. It turns out that in addition to typical, well-known metabolic complications, obesity as a systemic disease carries the risk of equally serious, although less obvious, non-metabolic complications, such as cardiovascular diseases, polycystic ovary syndrome, chronic kidney disease, asthma, thyroid dysfunction, immunologic and dermatologic conditions, and mental health problems. They can affect almost all systems of the young body and also leave their mark in adulthood. In addition, obesity also contributes to the exacerbation of existing childhood diseases. As a result, children suffering from obesity may have a reduced quality of life, both physically and mentally, and their life expectancy may be shortened. It also turns out that, in the case of obese pregnant girls, the complications of obesity may also affect their unborn children. Therefore, it is extremely important to take all necessary actions to prevent the growing epidemic of obesity in the pediatric population, as well as to treat existing complications of obesity and detect them at an early stage. In summary, physicians treating a child with a systemic disease such as obesity must adopt a holistic approach to treatment.

General Population Awareness of Primary Immune Deficiency Disease in Children in the Arar Region, Saudi Arabia.

Background Primary immunodeficiency disorders (PIDD) are of various types and severities, and they are associated with a delay in diagnosis. Early diagnosis of PIDD helps to improve the quality of life of affected children and prevent permanent consequences such as organ damage. Hence, awareness of PIDD is a must in the community to aid in early detection. Objectives The study aims to investigate the general population's awareness of PIDD in children in Arar, Northern Saudi Arabia. Methods A cross-sectional design was utilized to determine the awareness of PIDD in children in Arar, Northern Saudi Arabia. The participants were selected through an online self-administered questionnaire. The collected data was analyzed using descriptive and inferential statistics. Results A total of528 participants were involved in the current study. The majority of the sample population falls within the 20-30 age range. 9.1% of respondents know a child with primary immunodeficiency. Additionally, participants were aware of certain symptoms, such as delayed growth and chronic diarrhea, with rates of 47.0% and 34.1%, respectively. On the other hand, symptoms like otitis media and sinusitis have lower awareness rates of 25.8% and 33.3%, respectively. Conclusion This study can help in developing targeted awareness campaigns and educational programs to improve the understanding of primary immune deficiency disease among the general population in Saudi Arabia. This, in turn, can lead to earlier diagnosis and better management of the disease in children, ultimately improving their quality of life.

A 12-year follow up survey of childhood blindness at schools for the blind in Cambodia

BackgroundCambodia is a low-income country in South East Asia with a population of 15.5 million people of whom 4.9 million (38%) are under the age of 16. The causes of childhood blindness in Cambodia have not been investigated since the first survey of schools for the blind done in 2009 by our group. Given the large demographic and economic shifts in Cambodia since 2009 it is important to determine if these causes have changed in order to ensure intervention programmes are appropriately targeted. The purpose of the present study is to investigate the prevalence of causes of childhood blindness at schools for the blind in Cambodia.MethodsStudents between the ages of 5 and 16 years who were attending schools for the blind in Cambodia were examined by a consultant paediatric ophthalmologist and had clinical photographs taken. Distance visual acuity was measured using a logMAR tumbling E chart and the WHO definitions of blindness and severe visual impairment were used. The examining ophthalmologist recorded the anatomical site and aetiology of vision loss using the WHO Prevention of Blindness eye examination record for children. Collected data were compared to a previous survey from 2009.ResultsData from 73 students were included for analysis. The most common anatomical location of abnormality causing vision loss was the cornea (n = 20, 33.9%) followed by the lens and retina (n = 11, 18.64% each). Hereditary factors (n = 29, 49.15%) and childhood diseases (n = 27, 45.76%) were the most common aetiological causes of childhood blindness. The majority (71.19%) of childhood blindness was avoidable. The present study did not demonstrate 0a significant difference in the causes of childhood blindness compared to 2009.ConclusionsCorneal pathologies continue to represent the most common cause of vision loss amongst the surveyed population and the majority of causes of childhood blindness continue to be avoidable. These findings will facilitate the development of evidence-based targeted interventional programmes in Cambodia.

Leksikal Tanaman Obat Tradisional Untuk Penyakit Anak Dalam Lontar Usadha Rare

The lack of attention to medicinal plants will cause the ecosystem and lexical medicinal plants to become more critical. Therefore, an in-depth study is needed to save biodiversity and lexical preservation of medicinal plants. The objectives of this study are (1) to describe the lexical medicinal plants in lontar Usada Rare; (2) to describe the clarification of usada figures related to traditional medicinal plants in lontar Usada Rare for childhood diseases. To achieve these objectives, the researcher used a qualitative descriptive design. Data collection in the first stage was carried out by content analysis on lontar Usada Rare. The second stage of the research design was an in-depth interview with usada figures about usada rare to clarify the content of the lontar.The researcher as a human instrument is equipped and supported by interview guidelines, recording devices, cameras, and notes. The data obtained through the Usada Rare manuscript, then carried out data review, data categorization, and extracting the value and concept of treatment. The analysis techniques in this research are 1) data reduction, 2) data presentation and 3) conclusion drawing. Based on the results of the research and discussion above, the conclusions in this study are as follows. There are 111 (One hundred and eleven) lexical medicinal plants in lontar usada rare; There are 4 balian/healer terms in usada bali namely balian ketakson, balian kepican, balian usada and balian campuhan. The sources of medicine in usada bali include: Taru Pramana (Trees with medicinal properties), Sato Pramana (Medicinal ingredients derived from animals), Toya Pramana (Medicinal ingredients derived from water), Bayu Pramana (Medicinal ingredients derived from strength).

Tic disorders in children as polyethological nosology

Tic disorders (TR) occupies one of the leading places among neurological diseases of childhood. Recently, educators, medical psychologists, social workers and psychiatrists are increasingly faced with the problem of tic disorders in children, defining them as states of nervous development characterized by the presence of tics and related behavioral problems. Modern neurology, psychiatry and medical psychology need to update both the therapeutic and diagnostic aspects of tic disorders. This article presents an overview of the current literature on the problem of tic disorders in children, as well as methods of their correction. The analysis of the literature actualizes the polymodal approach, taking into account possible etiological predicates of the development of the disease.

Clinical, Immunological and Inflammatory Characteristics among Mexican Children with Different Subtypes of Juvenile Idiopathic Arthritis: Exploring the Correlation between Anti-Cyclic Citrullinated Peptide (anti-CCP) and Rheumatoid Factor (RF).

Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood, affecting one to four of every 1000 children worldwide. It is characterized by joint inflammation lasting more than six weeks in children under 16 years. The aim of this study was to estimate the frequency of JIA subtypes in the Mexican patient population; compare clinical, immunological and inflammation markers by JIA subtype; and examine the correlation between these variables. We conducted a cross-sectional study of 50 patients with JIA (2-15 years). We estimated the frequency of each JIA subtype, assessed and compared the immunological characteristics (RF, ANA and anti-CCP) by JIA subtype at the time of diagnosis using Kruskal-Wallis or chi-square tests, and calculated Spearman correlation coefficients between the assessments. Our analysis included 50 patients, 29 (58%) girls and 21 (42%) boys, aged at the time of diagnosis 10.56 ± 3.99 years. The frequencies of JIA subtypes were RF-seropositive polyarthritis (34%), RF-seronegative polyarthritis (28%), systemic arthritis (16%), oligoarthritis (14%) and arthritis-related enthesitis (8%). We found a significant association between sex and JIA subtype (p = 0.014). There was a significant difference in anti-CCP levels by JIA subtype (p < 0.001). We also detected positive correlations between RF and anti-CCP (r = 0.63, p < 0.001) and between age and anti-CCP (r = 0.29, p = 0.041). Our study suggests that the frequency of the polyarticular subtypes of JIA is higher in Mexican children compared to other populations. Our findings highlight the importance of considering the presence of anti-CCP and RF as important criteria when deciding on treatment for JIA patients as elevated levels of these antibodies may indicate early forms of adult rheumatoid arthritis.

Plasma Protein Biomarkers Distinguish Multisystem Inflammatory Syndrome in Children From Other Pediatric Infectious and Inflammatory Diseases.

Multisystem inflammatory syndrome in children (MIS-C) is a rare but serious hyperinflammatory complication following infection with severe acute respiratory syndrome coronavirus 2. The mechanisms underpinning the pathophysiology of MIS-C are poorly understood. Moreover, clinically distinguishing MIS-C from other childhood infectious and inflammatory conditions, such as Kawasaki disease or severe bacterial and viral infections, is challenging due to overlapping clinical and laboratory features. We aimed to determine a set of plasma protein biomarkers that could discriminate MIS-C from those other diseases. Seven candidate protein biomarkers for MIS-C were selected based on literature and from whole blood RNA sequencing data from patients with MIS-C and other diseases. Plasma concentrations of ARG1, CCL20, CD163, CORIN, CXCL9, PCSK9 and ADAMTS2 were quantified in MIS-C (n = 22), Kawasaki disease (n = 23), definite bacterial (n = 28) and viral (n = 27) disease and healthy controls (n = 8). Logistic regression models were used to determine the discriminatory ability of individual proteins and protein combinations to identify MIS-C and association with severity of illness. Plasma levels of CD163, CXCL9 and PCSK9 were significantly elevated in MIS-C with a combined area under the receiver operating characteristic curve of 85.7% (95% confidence interval: 76.6%-94.8%) for discriminating MIS-C from other childhood diseases. Lower ARG1 and CORIN plasma levels were significantly associated with severe MIS-C cases requiring inotropes, pediatric intensive care unit admission or with shock. Our findings demonstrate the feasibility of a host protein biomarker signature for MIS-C and may provide new insight into its pathophysiology.

CHANGES IN THE STATE OF IMMUNITY AT THE CELLULAR LEVEL IN PATIENTS WITH BRONCHIOLITIS

Acute bronchiolitis in children is considered one of the serious medical problems, since they occupy one of the leading places among the causes of childhood diseases. Despite numerous studies, the problem of acute bronchiolitis in frequently ill children remains unresolved, which is associated with delayed diagnosis, the peculiarities of the manifestation of clinical symptoms and laboratory data. The aim of the research is to study changes in immunity at the cellular level in patients with bronchiolitis. Materials and methods of research: to establish the relationship with immunity indicators at the cellular level, 62 patients with acute bronchiolitis were examined, divided into 2 groups: Group I - 31 patients with acute bronchiolitis in episodically ill children, group II - 31 patients with acute bronchiolitis in those who are often ill. Our study allows us to better understand the pathogenetic role of the immune status at the cellular level in the development of acute bronchiolitis in episodically ill and frequently ill children, for use in clinical practice and the development of more effective methods for predicting, diagnosing, and treating the disease

Use of Teduglutide in the Management of Gastrointestinal Graft-versus-Host Disease in Children and Young Adults

Loss of intestinal L cells and reduced levels of glucagon-like peptide-2 (GLP-2) have been implicated in acute graft-versus-host disease (GVHD) in murine models. Teduglutide, a human recombinant GLP-2 analog, may be beneficial in acute gastrointestinal (GI) GVHD owing to its known tissue protective and regenerative functions. We retrospectively reviewed patients who received teduglutide for treatment of GI GVHD. Endoscopy was performed at diagnosis and at completion of the teduglutide course. GLP-1 immunohistochemistry (IHC) was performed at diagnosis and the end of teduglutide therapy in 2 patients to evaluate L cells. We initiated daily teduglutide 0.05 mg/kg subcutaneously as adjunctive therapy in 3 pediatric patients with refractory GI GVHD. All 3 patients had resolution of GI GVHD following completion of the teduglutide course, as evidenced by reduced apoptosis and regenerative changes on post-treatment endoscopy. Reportable GLP-1 IHC in 2 patients demonstrated increased L cells at the end of teduglutide treatment compared to at diagnosis. No adverse effects to teduglutide were observed. Teduglutide is a promising adjunctive and non-immune suppressive agent for managing acute GI GVHD.

The updated role of budesonide in managing children and adolescents with allergic rhinitis.

Allergic rhinitis (AR) is a prevalent disease in childhood and adolescence. A type 2 inflammation characterizes AR and, mainly, sustains nasal obstruction. Budesonide aqueous nasal spray (BANS) is an intranasal corticosteroid (INCS) available since the early 1980s. BANS is indicated for treating allergic rhinitis. There is evidence about its efficacy in treating children and adolescents with seasonal and perennial AR. In addition, BANS is safe with negligible local and systemic side effects. Recent guidelines for patients with AR recommend the use of INCS as first line in many situations. In particular, AR patients (and their parents) may assess the perception of symptoms' severity using the Visual Analog Scale (VAS). A score ≥5/10 means uncontrolled symptoms and requires adequate treatment. BANS could appropriately be used in patients with uncontrolled symptoms and/or moderate/severe nasal obstruction. In conclusion, BANS represents a valuable option in managing children and adolescents with AR.

The effect of machine learning algorithms in the prediction, and diagnosis of meningitis: A systematic review.

This systematic review aimed to evaluating the effectiveness of machine learning (ML) algorithms for the prediction and diagnosis of meningitis. On November 12, 2022, a systematic review was carried out using a keyword search in the reliable scientific databases PubMed, EMBASE, Scopus, and Web of Science. The recommendations of Preferred Reporting for Systematic Reviews and Meta-Analyses (PRISMA) were adhered to. Studies conducted in English that employed ML to predict and identify meningitis were deemed to match the inclusion criteria. The eligibility requirements were used to independently review the titles and abstracts. The whole text was then obtained and independently reviewed in accordance with the eligibility requirements. After all the research matched the inclusion criteria, a total of 16 studies were added to the systematic review. Studies on the application of ML algorithms in the three categories of disease diagnosis ability (8.16) and disease prediction ability (8.16) (including cases related to identifying patients (50%), risk of death in patients (25%), the consequences of the disease in childhood (12.5%), and its etiology [12.5%]) were placed. Among the ML algorithms used in this study, logistic regression (LR) (4.16, 25%) and multiple logistic regression (MLR) (4.16, 25%) were the most used. All the included studies indicated improvements in the processes of diagnosis, prediction, and disease outbreak with the help of ML algorithms. The results of the study showed that in all included studies, ML algorithms were an effective approach to facilitate diagnosis, predict consequences for risk classification, and improve resource utilization by predicting the volume of patients or services as well as discovering risk factors. The role of ML algorithms in improving disease diagnosis was more significant than disease prediction and prevalence. Meanwhile, the use of combined methods can optimize differential diagnoses and facilitate the decision-making process for healthcare providers.

Klosterfrau-Group Award for Research of Airway Diseases in Childhood 2025

Application starts on June 3, 2024 and ends on November 22, 2024The Klosterfrau Foundation wants to encourage researchers in the field of pediatric respiratory medicine to apply for the prestigious Klosterfrau-Group Award for Research of Airway Diseases in Childhood. The award exists in its 25th year.