World journal of clinical pediatrics最新文献

Background: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder marked by recurrent episodes of fever and serositis. Resistin, a pro-inflammatory cytokine, may play a role in FMF pathogenesis by promoting the release of interleukin-1beta, tumour necrosis factor alpha, and interleukin-6.

Aim: To evaluate serum resistin levels in children with FMF during acute attacks and remission, and to assess its potential as a biomarker for disease activity and progression.

Methods: A case-control study was conducted involving 40 pediatric patients with FMF and 40 age- and sex-matched healthy controls. Serum resistin and inflammatory markers-including total leukocyte count (TLC), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), serum amyloid A (SAA), and fibrinogen-were measured using enzyme-linked immunosorbent assay and standard assays.

Results: No significant differences were found in age or sex between FMF patients and controls. Among FMF patients, fever was the most prevalent symptom (95%), followed by abdominal pain (75%). The most frequently detected genetic mutation was M694I, followed by M694V, E148Q, M680I, and V726A. Compound heterozygous mutations, including M694I/V726A and M694I/M694V, were equally represented. During acute attacks, FMF patients exhibited significantly elevated levels of TLC, ESR, CRP, SAA, and fibrinogen compared to attack-free periods and controls. Serum resistin levels were markedly higher during acute attacks and showed a strong positive correlation with other acute inflammatory markers. Receiver operating characteristic curve analysis demonstrated high sensitivity and specificity of resistin as a potential biomarker for FMF.

Conclusion: Resistin is significantly elevated in children with FMF during acute episodes and correlates with established inflammatory markers. These findings support its potential role as a non-invasive biomarker for disease activity and severity in pediatric FMF.

Glucocorticoids (GCs) such as prednisolone are widely used in conditions like nephrotic syndrome, asthma, and autoimmune diseases. However, prolonged or high-dose use may suppress the hypothalamic-pituitary-adrenal (HPA) axis, leading to secondary adrenal insufficiency (AI). This condition occurs when the adrenal glands fail to produce adequate cortisol, which is essential for regulating metabolism, immune response, and stress adaptation. Corticotropin-releasing hormone (CRH) from the hypothalamus stimulates the pituitary to release adrenocorticotropic hormone (ACTH), which then triggers cortisol production in the adrenal glands. Prolonged GC use disrupts this system by inhibiting CRH and ACTH secretion, leading to adrenal atrophy and reduced cortisol production. HPA axis suppression is primarily diagnosed through dynamic tests. Early morning cortisol levels above > 18 ng/mL typically indicate normal function, while levels < 3 ng/mL suggest AI. Intermediate values require additional testing, such as the insulin tolerance test, ACTH stimulation test, and metyrapone test. Prednisolone in nephrotic syndrome suppresses the HPA axis, heightening AI risk, influenced by dose, duration, and timing of administration. Careful GC management is essential to balance disease control with risks of HPA axis suppression. Early recognition and timely intervention can prevent adrenal crises and improve outcomes in pediatric patients.

Pediatric type 1 diabetes (T1D) is a lifelong condition requiring meticulous glucose management to prevent acute and chronic complications. Conventional management of diabetic patients does not allow for continuous monitoring of glucose trends, and can place patients at risk for hypo- and hyperglycemia. Continuous glucose monitors (CGMs) have emerged as a mainstay for pediatric diabetic care and are continuing to advance treatment by providing real-time blood glucose (BG) data, with trend analysis aided by machine learning (ML) algorithms. These predictive analytics serve to prevent against dangerous BG variations in the perioperative environment for fasted children undergoing surgical stress. Integration of CGM data into electronic health records (EHR) is essential, as it establishes a foundation for future technologic interfaces with artificial intelligence (AI). Challenges in perioperative CGM implementation include equitable device access, protection of patient privacy and data accuracy, ensuring institution of standardized protocols, and financing the cumbersome healthcare costs associated with staff training and technology platforms. This paper advocates for implementation of CGM data into the EHR utilizing multiple facets of AI/ML algorithms.

Background: Child vaccination plays a great role in preventing infectious diseases in children. While Ethiopia has emphasized child vaccination, its effectiveness largely depends on efficient communication between health practitioners and mothers/caregivers. Thus, sufficient communication contributes to promoting child immunization and in turn improving child health.

Aim: To examine child vaccine communication practices and strategies as well as their relationship with sociodemographic characteristics of respondents in the Amhara region of Ethiopia.

Methods: A quantitative cross-sectional survey was conducted using a pretested Likert scale questionnaire and distributed to 123 health workers in primary healthcare centers between April 2024 and June 2024. The data were analyzed using both descriptive and inferential statistics.

Results: The results indicated that the most common vaccine communication activities included education and communication (mean score = 24.1), vaccine data registration (mean score = 8.86), and information exchange (mean score = 8.3). A significant correlation was found between the implementation of interpersonal health communication principles and immunization communication training (F = 341.756, P = 0.000, P < 0.05). However, no significant correlations were observed between age, education, work experience, and vaccine communication practices. Additionally, the study found that the application of interpersonal communication principles was associated with the perceived relevance of immunization communication (F = 27.790, P = 0.000, P < 0.05).

Conclusion: Based on the findings the study concluded that communication practice in promoting child immunization is insufficient. To enhance vaccine acceptance, continuous immunization communication training for health workers is recommended.

Background: Noonan syndrome (NS) is an autosomal dominant, multisystem disorder with a prevalence of 1 in 1000-2500. Multiple etiologies have been proposed for short stature in NS, including resistance to growth hormone (GH) and GH deficiency (GHD). Irrespective of the presence of GHD, NS is a Food and Drug Administration-approved indication for recombinant-GH therapy. Few case reports of combined anterior pituitary hormone deficiency (CPHD) in NS have been reported.

Aim: To describe the clinico-biochemical characteristics of NS with CPHD and to assess the response to recombinant GH therapy.

Methods: An ambispective case-control study was conducted to compare the clinico-hormonal profile and response to recombinant-GH in pediatric patients with NS and CPHD and pediatric patients with NS but without CPHD.

Results: Five children with NS and CPHD were compared to 6 patients with NS but without CPHD. The most common anterior pituitary hormone involvement in combination with GHD was adrenocorticotrophic hormone deficiency causing hypocortisolemia (n = 3, 60%), followed by hypogonadotropic hypogonadism and secondary hypothyroidism (n = 1 each). Pituitary hypoplasia was seen in the magnetic resonance imaging of all patients with CPHD. Patients with NS and CPHD had lower standard deviation scores of height (-4.18 vs -2.52, P = 0.009), bodyweight, and body mass index but a slightly better first year response to recombinant GH (9.2 vs 5.5, P = 0.06). There were no differences in dysmorphisms and other anomalies between the two groups. Patients with NS and CPHD had a similar response to GH as patients with CPHD but without NS. One patient with NS and CPHD developed hypocortisolism after GH initiation.

Conclusion: Hypoplasia of the pituitary and GHD with involvement of other pituitary hormones may be seen in NS and may determine response to recombinant GH therapy.

Background: Mucopolysaccharidosis type VI (MPS VI) is a chronic, progressive, inherited disease with multiorgan involvement and a restricted life expectancy.

Aim: To investigate the epidemiological, clinical, and genetic characteristics of patients with mucopolysaccharidosis type 6 and their outcomes using the Russian Federation's national registry, as per the Russian registry, and compare them with previously published data.

Methods: In a retrospective cohort study, clinical, laboratory data, molecular genetic analysis results, and enzyme replacement therapy (ERT) data were extracted and analyzed from the Russian MPS VI registry for 53 patients, comprising 26 males (49.1%) and 27 females (50.9%).

Results: The median age of first symptoms was 2 years, ranging from the first months of life to 20 years. A positive family history of MPS VI was reported in 19/53 (35.8%) patients, a negative family history in 24 (45.3%), and missing information in 10 (18.9%). The main features of the disease were hepatomegaly (n = 23; 60.5%), splenomegaly (n = 15, 39.5%), involvement of otolaryngological organs (n = 24/33; 72.7%), umbilical and inguinal hernia (n = 19/36; 52.8%), heart involvement (n = 26/32; 81.3%) with valve involvement (n = 25/26; 96.2%) and linear growth delay (n = 30/39, 76.9%). Two patients (3.8%) died. The most common variants identified in the ARSB gene were c.454C>T and c.194C>T. At the time of data collection, ERT had ever received 48/53 (90.5%) patients.

Conclusion: No correlation was observed between the age of onset of the first symptoms, the severity of clinical manifestations, enzyme activity, or nucleotide variants in the ARSB gene.

Background: Giant coronary artery aneurysms (CAA), entailing thrombosis, myocardial infarction, and sudden death, are the most severe and life-threatening complications of Kawasaki disease (KD). Giant aneurysms rarely regress and can later transform into stenoses. Data on dynamic follow-up are scarce in the literature.

Aim: To evaluate clinical features and long-term outcomes of giant CAA in children with KD.

Methods: A single-center retrospective study included data from patients with KD and giant CAA in the Irkutsk region (2012-2023). CAA criteria according to the American Heart Association guidelines of 2017 were used: (1) Dilated coronary artery with diameter Z-score > 2 standard deviations (SD) but < 2.5 SD; (2) Small CAA with Z-score > 2.5 SD but < 5 SD; (3) Medium CAA with Z-score > 5 SD but < 10 SD; and (4) Giant CAA with Z-score > 10 SD or ≥ 8 mm.

Results: The mean age of children with coronary dilatation/aneurysms was 2.5 years, and the male-to-female ratio was 3:1. Patients with giant/medium CAA had symptoms of cerebral dysfunction more often compared with children with moderate (Z-score < 5 SD but > 2.0 SD) coronary dilatation (62.0% vs 21.0%, P = 0.019). Major cardiovascular events (myocardial infarction, coronary artery bypass grafting, acute coronary syndrome, ischemic cardiomyopathy, left ventricular aneurysm, and giant extracardiac aneurysm) occurred in 55.5% of patients who had giant CAA. At follow-up the complete regression of giant/medium CAA was observed in 58.0% and partial regression in 42.0% after a mean of 2.3 and 5.5 years, respectively. All thrombi detected by echocardiography, CT, and angiography in giant/medium CAA disappeared between 1 year and 5 years (mean: 15 months). All patients survived.

Conclusion: Risk factors for giant CAA were male sex, early age, and cerebral dysfunction. Complete regression of giant coronary aneurysms occurred in 58.0% of patients after follow-up of 2.3 years.

Background: Excipients may improve the palatability of polyethylene glycol (PEG), the first-line treatment for childhood functional constipation (FC), leading to good compliance and improved treatment outcomes.

Aim: To compare the developed PEG-based formula (PEG-Chula) to the commercial formula for treating childhood FC.

Methods: In this randomized controlled trial, we enrolled children aged < 18 years with FC diagnosed by the Rome IV criteria to receive PEG-Chula [four flavors: (1) Strawberry; (2) Lychee; (3) Apple; and (4) Lychee-rose] or Forlax (orange-grapefruit flavor) for eight weeks. The primary outcomes included changes in stool frequency and consistency measured by the Bristol Stool scale. The secondary outcomes were constipation-related symptom improvement, adverse events, and palatability measured by the facial hedonic scale.

Results: Fifty-two children diagnosed with FC [median age: 4.21 (2.33, 7.88) years; 35 (67.31%) females] were enrolled. After the 8-week treatment, the mean weekly stool frequency increased in both groups, the mean change was 4.02 (95%CI: 3.09-4.95) in PEG-Chula and 3.78 (95%CI: 2.79-4.78) in commercial PEG compared to baseline (P < 0.001). The extent of stool consistency improvement did not differ significantly. The most preferred PEG-Chula flavor was rated more palatable than the commercial PEG. Treatment compliance correlated with medication palatability (r = 0.34, P = 0.013). No significant differences in adverse events were found.

Conclusion: Both PEG-based formulas are effective and safe for managing pediatric FC.

Inflammatory bowel disease (IBD) is a group of chronic disorders that cause relapsing inflammation in the gastrointestinal tract (GIT). It results either from gene-environment interactions or as a monogenic disease resulting from pathogenic mutations causing impairment in the protective mechanism of the GIT. Around 10%-15% of patients with very early onset IBDs may have an underlying monogenic condition. Monogenic IBD is very different from complex forms of polygenic IBD in the underlying molecular basis of uncontrolled intestinal inflammation, age of onset, extraintestinal comorbidities as well as treatment modality. An in-depth understanding of this distinct form of IBD is essential for deciding an appropriate therapeutic approach as well as prognostication. In this review, we aim to discuss about the epidemiology, clinical presentation, diagnostic approach, therapeutic challenges and latest advances in patients with monogenic IBD.

This article examines the growing prevalence of pediatric obesity and its connection to metabolic dysfunction-associated steatotic liver disease (MASLD) in children and adolescents, focusing on the role of glucagon-like peptide-1 receptor agonists in treatment. Pediatric obesity and MASLD present significant long-term health risks, making early intervention crucial. The article reviews the pathophysiology of both pediatric obesity and MASLD, explores current therapeutic strategies, and discusses the emerging role of glucagon-like peptide-1 receptor agonists, such as liraglutide, semaglutide, exenatide, and dulaglutide, in managing obesity, as well as explores current limited pediatric literature on the use of these medications in MASLD.