Clinical Characteristics Of Children Research Articles

Non-random distribution of Plasmodium Species infections and associated clinical features in children in the lake Victoria region, Kenya, 2012–2018

BackgroundWhile Plasmodium falciparum (Pf) stands out as the most lethal malaria parasite species in humans, the impact of other species should not be dismissed. Moreover, there is a notable lack of understanding of mixed-species infections and their clinical implications.MethodsWe conducted eight school-based cross-sectional malariometric surveys in the Lake Victoria region of western Kenya between January–February 2012 and September–October 2018. In each survey, a minimum of 100 children aged 3 to 15 years were randomly chosen from a school in Ungoye village on the mainland and as well as from each school selected in every catchment area on Mfangano island. Plasmodium infection was determined by microscopy and nested polymerase chain reaction (PCR). The multiple-kind lottery (MKL) model calculated the expected distribution of Plasmodium infections in the population and compared it to observed values using a chi-squared test (χ2).ResultsThe Plasmodium prevalence was 25.9% (2521/9724) by microscopy and 51.1% (4969/9724) by PCR. Among all infections detected by PCR, Pf, P. malariae (Pm), and P. ovale (Po) mono-infections were 58.6%, 3.1%, and 1.8%, respectively. Pf/Pm, Pf/Po, Pm/Po, and Pf/Pm/Po co-infections were 23.5%, 4.3%, 0.1%, and 8.6%, respectively. MKL modelling revealed non-random distributions, with frequencies of Pf/Pm and Pf/Pm/Po co-infections being significantly higher than expected (χ2 = 3385.60, p < 0.001). Pf co-infections with Pm and Po were associated with a decreased risk of fever (aOR 0.64, 95% CI 0.46–0.83; p = 0.01) and increased risks of splenomegaly (aOR 12.79, 95% CI 9.69–16.9; p < 0.001) and anaemia (aOR 2.57, 95% CI 2.09–3.15; p < 0.001), compared to single-species infections.ConclusionThis study sheds light on the potential interaction between Pf and Pm and/or Po. Given the clinical significance of mixed-species infections, improved diagnostics, and case management of Pm and Po are urgently needed.

Macrophage-Stimulating 1 Polymorphism rs3197999 in Pediatric Patients with Inflammatory Bowel Disease

Background and Objectives: Inflammatory bowel disease (IBD), which includes Crohn’s disease (CD) and ulcerative colitis (UC), often necessitates long-term treatment and hospitalizations and also may require surgery. The macrophage-stimulating 1 (MST1) rs3197999 polymorphism is strongly associated with the risk of IBD but its exact clinical correlates remain under investigation. We aimed to characterize the relationships between the MST1 rs3197999 genotype and the clinical characteristics in children and adolescents with IBD within a multi-center cross-sectional study. Materials and Methods: Clinical data included serum C-reactive protein (CRP), albumin, activity indices (PUCAI, PCDAI), anthropometric data, pharmacotherapy details, surgery, and disease severity. Genotyping for rs3197999 was carried out using TaqMan hydrolysis probes. Results: The study included 367 pediatric patients, 197 with Crohn’s disease (CD) (40.6% female; a median age of 15.2 years [interquartile range 13.2–17.0]) and 170 with ulcerative colitis (UC) (45.8% female; a median age of 15.1 years [11.6–16.8]). No significant relationships were found between MST1 genotypes and age upon first biologic use, time from diagnosis to biological therapy introduction, PUCAI, PCDAI, or hospitalizations for IBD flares. However, in IBD, the height Z-score at the worst flare was negatively associated with the CC genotype (p = 0.016; CC: −0.4 [−1.2–0.4], CT: −0.1 [−0.7–0.8], TT: 0.0 [−1.2–0.7)]). The TT genotype was associated with higher C-reactive protein upon diagnosis (p = 0.023; CC: 4.3 mg/dL [0.7–21.8], CT 5.3 mg/dL [1.3–17.9], TT 12.2 mg/dL [3.0–32.9]). Conclusions: This study identified links between MST1 rs3197999 and the clinical characteristics of pediatric IBD: height Z-score and CRP. Further studies of the associations between genetics and the course of IBD are still warranted, with a focus on more extensive phenotyping.

Clinical features and prognostic factors of advanced myelodysplastic syndromes in children

Objective: To investigate the clinical features and prognostic factors of advanced myelodysplastic syndromes (MDS) in children. Methods: Clinical data of children diagnosed with advanced MDS in the Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences, between September 2009 and April 2022 were retrospectively collected. Follow-up assessments were performed through telephone interviews and the review of medical records until May 1, 2023. The clinical features of children with advanced MDS were summarized by analyzing chromosomal karyotype tests, second-generation gene sequencing results. Multivariate Cox regression analysis was used to investigate the prognostic factors of advanced MDS in children. Results: A total of 69 children, comprising 49 males and 20 females, aged [M (Q1, Q3)] 8 (5, 10) years, were enrolled in the study. Sixty-seven cases underwent chromosomal karyotype testing, of which 42 cases (62.7%) had abnormal karyotypes, with monosomy 7 the most common in 17 cases (25.4%). Forty-three cases underwent next-generation sequencing, with mutations in the SETBP1, NRAS, PTPN11 and RUNX1 genes more common, identified in 12 cases (27.9%), 9 cases (20.9%), 8 cases(18.6%), and 8 cases(18.6%), respectively. The follow-up time [M (Q1, Q3)] was 26 (13, 56) months and the 5-year overall survival rate was 56%(95%CI: 44.4%-70.5%). The 5-year overall survival rate for children who underwent hematopoietic stem cell transplantation (HSCT) was higher than that of children who did not undergo HSCT (73.9% vs 29.1%, P<0.001). HSCT (HR=0.118, 95%CI: 0.037-0.372, P<0.001) was a protective factor for the overall survival rate of children with advanced MDS. Serum ferritin level>356.3 μg/L (HR=6.497, 95%CI: 2.068-20.415, P=0.001) and moderate to severe splenomegaly (HR=4.075, 95%CI: 1.174-14.141, P=0.027) were risk factors for the overall survival rate of children with advanced MDS. Conclusions: Monosomy 7 was the most common abnormal karyotype and SETBP1 was the gene that had the highest mutation frequency in children with advanced MDS. HSCT, increased ferritin and moderate to severe splenomegaly are prognostic factors influencing the overall survival rate of children with advanced MDS.

Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations.

Snijders Blok-Campeau syndrome (SNIBCPS) is a rare genetic disorder characterized by facial abnormalities, hypotonia, macrocephaly, and global developmental delay (GDD) caused by mutations in CHD3 gene. There is limited information on SNIBCPS and few studies on its pathogenic gene CHD3. We utilized whole-exome sequencing, in vitro minigene splicing assay analysis, and construction of protein models to validate the suspected pathogenic mutation. In addition, the PubMed database was searched using the keywords "Snijders Blok-Campeau syndrome," "CHD3," or "SNIBCPS" to summarize the gene mutations and clinical phenotypic characteristics of children with SNIBCPS. We identified a non-frameshift variant c.3592_c.3606delGCCAAGAGAAAGATG, a splice site variant c.1708-1G>T, and two missense variants, c. 2954G>C (p.Arg985Pro) and c.3371C>T (p.A1124V), in CHD3 variants with SNIBCPS. Importantly, the c.3592_c.3606delGCCAAGAGAAAGATG, c.1708-1G>T, and c.3371C > T (p.A1124V) loci were not reported, and the children in this study also had phenotypic features of unibrow, transverse palmar creases, tracheal bronchus, and hypomelanosis of Ito (HI). The c.1708-1G>T classical splicing mutation leads to abnormal shearing of mRNA, forming a truncated protein that ultimately affects gene function. Our findings have expanded the spectrum of genetic variants and clinical features in children with SNIBCPS. Splicing analysis of CHD3 is an important method to understand the pathogenesis of spliced cells.

Clinical Characteristics of Children with Refrative Amblyopia at Cipto Mangunkusumo National Referral Hospital

Amblyopia, commonly referred to as 'lazy eye’, manifests as a reduction in best corrected visual acuity (BCVA) in the absence of detectable ocular structural abnormalities. Refractive amblyopia specifically denotes a subtype of amblyopia arising from uncorrected refractive errors. A retrospective descriptive analysis was conducted on medical records of all pediatric patients with refractive amblyopia at the Department of Ophthalmology, Cipto Mangunkusumo Kirana National Referral Hospital, Jakarta, Indonesia in 2018 to 2022. A total of 391 eyes of 224 patients were included. Median age was 8 (5-18) years, with majority being older than 7 years of age (58.7%). Leading method of treatment was with spectacles alone (80.4%). Overall amblyopia improvement was mostly observed after six months of treatment. In conclusion, refractive amblyopia at our hospital was highly prevalent among children. Thus, early detection and treatment of refractive errors in children is essential to prevent refractive amblyopia.

The relationship between differentially expressed thyroid cancer genes and clinical characteristics in metastatic children and adolescents

Objective: To investigate the relationship between genes and clinical characteristics in children and adolescents with metastatic differentiated thyroid cancer (caDTC). Methods: A cross sectional study. A total of 67 caDTC patients with lymph node metastasis or distant metastasis in Peking Union Medical College Hospital from December 2020 to December 2022 were included, according to the inclusion and exclusion criteria. Then the differences in clinicopathologic features and iodine intake were compared among different genomes, and the age subgroups divided by the age of 12 were further analyzed. Results: Among the 67 cases of caDTC, the diagnosed age [M(Q1, Q3)]was 13.2 (9.7, 16.9) years old, with 23 males and 44 females. There were 68.7% (46/67) of patients have distant metastasis (M1 stage). Pathogenic or potentially pathogenic gene variants were detected in 68.7% (46/67) of the patients, with RET or NTRK fusion (RET/NTRK) being the most common [43.3%(29/67)], BRAF V600E mutation followed [19.4%(13/67)].There was only 1 caDTC with NRAS Q61R mutation. The patients were divided into RET/NTRK fusion group (n=29), BRAF mutation group (n=12), other mutation group (n=4), and non-mutation group (n=21) (1 patient was not included in the gene mutation subgroup comparison due to the presence of NRAS Q61R mutation and BRAF V600E mutation). The comparison of gene feature groups showed that compared to the BRAF mutation group, caDTC with RET/NTRK fusion tended to have a lower age at diagnosis [12.6(9.3, 15.9) vs 17.2(15.5, 18.1) years old, P<0.001], the proportion of mutation load≥2 was higher (10.4% vs 8.3%, P=0.027), with statistically significant difference. Among 46 M1 stage patients, 71.7% (33/46) had initial iodine intake, and 30.4% (14/46) developed radioiodine-refractory (RAIR). In age group comparison, the<12 year old group had a higher proportion of male patients (51.9% vs 22.5%, P=0.013) and a lower incidence of BRAF V600E mutations (0 vs 32.5%, P<0.001) compared to the≥12 year old group, and the differences were statistically significant. Conclusions: The incidence of RET/NTRK fusion ranks first in metastatic caDTC, featured with younger age at diagnosis and higher rate of distant metastasis. Although most metastatic lesions initially consume iodine, they are prone to RAIR. Attention should be paid to the potential role of RET/NTRK fusion in the invasion and iodine resistance of young caDTC patients.

Torticollis and right arm weakness due to atraumatic spinal epidural hematoma in a 5-year-old girl child

Spontaneous spinal epidural hematoma (SEH) is a rare presentation as cause of neurological weakness in children and is neurological emergency. The most commonly affected site in children is cardiothoracic region. Early management is associated with better functional outcomes. We report a 5-year-old girl who presented with long standing neck pain now presenting to emergency with torticollis and right arm weakness around shoulder joint. Magnetic resonance imaging of C-spine revealed posterior epidural hematoma that extend from C3/C4 level down to C6/C7 level, it is causing moderate spinal canal stenosis and mass-effect on the spinal cord, with mild intramedullary abnormal T2 signal intensity indicating myelomalacia. There were no predisposing factors in our patient. Epidural hematoma was drained surgically and post-surgery patient started showing neurological recovery on follow. Cases of spontaneous SEH have been reported in infants as well and the clinical features in children are often nonspecific leading to a delay in diagnosis. This case report aims to raise awareness about this neurological emergency, in which early intervention is crucial.

Clinical Characteristics of Children With Foreign Bodies in the Digestive Tract and Analysis of Risk Factors for Serious Complications.

Foreign bodies (FBs) in the digestive tract are common in children, we analyzed the clinical characteristics of children with FBs in the digestive tract and discuss the risk factors for serious complications. We retrospectively reviewed clinical data of 139 children with FBs in the digestive tract. Based on the severity of complications caused by FBs, the patients were divided into risk and general groups for analysis and comparison. Significant differences were observed in the retention sites of FBs, the diameter of FBs retained in the esophagus, FBs retention time exceeding 24 h, and the absence of witnesses between the 2 groups. Inadequate care, button batteries (BBs), ingested mmFBs, FBs retained in the esophagus, long-term retention, and giant gastric bezoars may cause serious complications. In addition to treating FBs and the complications, clinicians should emphasize the importance of childcare to prevent the ingestion of FBs.

Clinical characteristics of children on prolonged mechanical ventilation due to different primary diseases

To investigate the differences in clinical characteristics among children on prolonged mechanical ventilation (PMV) due to different primary diseases. A retrospective analysis was performed on the clinical data of 59 pediatric patients requiring PMV from July 2017 to September 2022. According to the primary disease, they were divided into respiratory disease (RD) group, central nervous system (CNS) group, neuromuscular disease (NMD) group, and other disease group. The four groups were compared in terms of general information, treatment, and outcome. There were significant differences among the four groups in age, body weight, Pediatric Logistic Organ Dysfunction-2 (PELOD-2) score, Pediatric Risk of Mortality III (PRISM Ⅲ) score, analgesic and sedative treatment, nutrition supply, rehabilitation treatment, tracheotomy, successful ventilator weaning, and outcomes (P<0.05). Compared with the RD group, the CNS group and the other disease group had a significantly higher age and a significantly higher proportion of children receiving rehabilitation treatment, and the CNS group had a significantly higher proportion of children receiving tracheotomy (P<0.008). Compared with the other disease group, the CNS group and the NMD group had significantly lower PELOD-2 and PRISM III scores, and the CNS group had a significantly higher proportion of children with successful ventilator weaning and a significantly higher proportion of children who were improved and discharged (P<0.008). There are differences in clinical characteristics among children receiving PMV due to different etiologies. Most children in the RD group have a younger age, and children in the CNS group have a relatively good prognosis.

Clinical characteristics of children with severe SARS-CoV-2 infection in Yunnan

Objective: To investigate the clinical characteristics of 130 children with severe SARS-CoV-2 infection in Yunnan province after the relaxation of non-pharmaceutical interventions, and analyze the risk factors for mortality. Methods: This study is a retrospective case summary that analyzed the demographic data, underlying diseases, clinical diagnoses, disease outcomes, and laboratory results of 130 children with severe COVID-19 infections admitted to nine top-tier hospitals in Yunnan Province from December 2022 to March 2023. According to the prognosis, the patients were divided into survival group and death group. The clinical and laboratory data between the two groups were compared, and the risk factors of death were evaluated. The χ2 test and Mann-Whitney U test were employed to compare between groups, while Spearman correlation test and multiple Logistic regression were used to analyze the risk factors for death. The predictive value of independent risk factors was evaluated by receiver operating characteristic curve. Results: The 130 severe patients included 80 males and 50 females with an onset age of 28.0 (4.5, 79.5) months. There were 97 cases in the survival group and 33 cases in the death group with no significant differences in gender and age between the two groups (P>0.05). Twenty-five cases (19.2%) out of the 130 patients had underlying diseases, and the number with underlying diseases was significantly higher in death group than in survival group (36.4% (12/33) vs. 13.4%(13/97), χ2=8.36, P=0.004). The vaccination rate in the survival group was significantly higher than that in the death group (86.1% (31/36) vs. 7/17, χ2=9.38, P=0.002). A total of 42 cases (32.3%) of the 130 patients were detected to be infected with other pathogens, but there was no significant difference in the incidence of co-infection between the death group and the survival group (39.3%(13/33) vs. 29.9% (29/97), χ2=1.02, P>0.05). Among the 130 cases, severe respiratory cases were the most common 66 cases (50.8%), followed by neurological severe illnesses 34 cases (26.2%) and circulatory severe 13 cases (10%). Compared to the survival group, patients in the death group had a significantly higher levels of neutrophil, ferritin, procalcitonin, alanine aminotransferase, lactate dehydrogenase, creatine kinase isoenzyme, B-type natriuretic peptide, interleukin-6 and 10 (6.7 (4.0, 14.0) vs. 3.0 (1.6, 7.0)×109/L, 479 (298, 594) vs. 268 (124, 424) μg/L, 4.8 (1.7, 10.6) vs. 2.0 (1.1, 3.1) μg/L, 66 (20, 258) vs. 23 (15, 49) U/L, 464 (311, 815) vs. 304 (252, 388) g/L, 71(52, 110) vs. 24(15, 48) U/L, 484 (160, 804) vs. 154 (26, 440) ng/L, 43 (23, 102) vs. 19 (13, 27) ng/L, 216 (114, 318) vs. 86 (45, 128) ng/L, Z=-4.21, -3.67, -3.76, -3.31, -3.75, -5.74, -3.55, -4.65, -5.86, all P<0.05). The correlated indexes were performed by multivariate Logistic regression and the results showed that vaccination was a protective factor from death in severe cases (OR=0.01, 95%CI 0-0.97, P=0.049) while pediatric sequential organ failure assessment (PSOFA) (OR=3.31, 95%CI 1.47-7.47, P=0.004), neutrophil-to-lymphocyte ratio (NLR) (OR=1.56, 95%CI 1.05-2.32, P=0.029) and D dimer (OR=1.49, 95%CI 1.00-1.02, P=0.033) were independent risk factors for death (all P<0.05). The area under the curve of the three independent risk factors for predicting death were 0.86 (95%CI 0.79-0.94), 0.89 (95%CI 0.84-0.95) and 0.87 (95%CI 0.80-0.94), all P<0.001, and the cut-off values were 4.50, 3.66 and 4.69 mg/L, respectively. Conclusions: Severe SARS-CoV-2 infection can occur in children of all ages, primarily affecting the respiratory system, but can also infect the nervous system, circulatory system or other systems. Children who died had more severe inflammation, tissue damage and coagulation disorders. The elevations of PSOFA, NLR and D dimer were independent risk factors for death in severe children.

Documentation and management of paediatric obesity: Evidence from a paediatric inpatient unit

IntroductionThe obesity epidemic is a worldwide phenomenon.1 In Australia, the prevalence of paediatric overweight or obesity is 25%.2 Children with obesity present to medical services more frequently than children with a healthy weight.3 Therefore, any hospital admission is an opportunity for clinicians to identify and manage children with overweight or obesity. Previous research has not objectively measured how frequently clinicians document a child as being above the healthy weight range and initiate weight management strategies. This study addresses this gap in the literature by demonstrating the prevalence rate and clinical characteristics of children with overweight/obesity in a non-tertiary paediatric inpatient unit and measuring the rate of clinician recognition, documentation, and initiation of weight management strategies.

Gastrointestinal and Hepatic Manifestations of COVID-19 in Children: A Systematic Review and Meta-analysis.

Children with COVID-19 may present with gastrointestinal (GI) symptoms and liver dysfunction. To determine the type and prevalence of gastrointestinal (GI) and hepatic manifestations of COVID-19 in children and its association with severity of illness. A systematic literature search was done from inception until January 4, 2021 using PubMed, Cochrane Library, Google Scholar and prepublication repositories with no language restrictions. Studies that reported the demographic and clinical features of children with COVID-19 and provided data on their GI and hepatic signs and symptoms were included. Prevalence of GI and hepatic manifestations were pooled using Stata14. We included 58 studies with total of 4497 participants. Overall, one-third of children with COVID-19 presented with at least one GI symptom (33.8%; 95% confidence interval (CI) 23.0, 45.4; I2 97.5%; 42 studies, 3327 participants) with abdominal pain, nausea or vomiting, and diarrhea each occurring in approximately 20%. Children with severe COVID-19 were more likely to present with GI symptoms (odds ratio 2.59; 95% CI 1.35, 4.99; I2 24%; 4 studies, 773 participants). The pooled prevalence of elevated transaminases was 11% for both AST (11.3%, 95% CI 4.9, 19.3; I2 74.7%; 11 studies, 447 participants) and ALT (11.2%, 95% CI 7.1, 16.0; I2 40.8%; 15 studies, 513 participants). Hepatic findings such as jaundice (2-17%), hepatomegaly (2%) or behavioral changes (2%) from hepatic encephalopathy were variably reported by a few studies.The degree of heterogeneity was not improved on exclusion of studies with poor quality, but markedly improved on subgroup analysis according to geographical region and presence of MIS-C. Studies from China showed that children with COVID-19 had significantly lower pooled prevalence for any of the GI symptoms with low degree of heterogeneity, particularly for diarrhea, nausea/vomiting, and abdominal pain, all of which had I2 of 0%. Those with multisystem inflammatory syndrome in children (MIS-C) had significantly more common GI symptoms and increased transaminases than those without. One-third of children with COVID-19 exhibit at least one GI symptom and more likely present in those with severe disease. Elevated transaminases were present in 10%. Prevalence of GI and hepatic manifestations were higher among children with MIS-C.

Clinical characteristics of children with acute appendicitis accessing the Emergency Service of the Pilar Regional Hospital in the period 2020 to 2023

Introducción: La apendicitis aguda, definida como la inflamación del apéndice vermiforme, es la causa más frecuente de abdomen agudo quirúrgico y es la patología aguda quirúrgica más común en la infancia y en el niño mayor. Objetivo: Determinar las características clínicas de niños con apendicitis aguda que acuden al Servicio de Urgencias del Hospital Regional de Pilar durante el periodo 2020 al 2023. Materiales y métodos: Estudio observacional descriptivo, retrospectivo, de corte transversal en pacientes pediátricos que acuden al servicio de urgencias del Hospital Regional de Pilar. Incluyó pacientes de 4 a 15 años que acudieron al servicio de urgencias por cuadro de dolor abdominal agudo durante el periodo enero 2020 a julio 2023. Resultados: Se realizaron 80 apendicetomías en niños de 4 a 15 años, la media de edad fue 11±3años; predominó el sexo femenino en el 34,4%; el principal motivo de consulta fue dolor abdominal más vómitos con un tiempo promedio de evolución de 29,6±22horas; se presentó signo de defensa muscular en el 77,5%; la característica apendicular predominante fue flegmonosa en el 51,3%; el tiempo promedio de estancia hospitalaria fue de 3±1,2días y el 71,3% de los niños no presentó complicación aguda. Conclusión: El conocimiento de las características clínicas de la apendicitis aguda resultan de suma importancia para el médico en el Servicio de Urgencias para un diagnóstico precoz y; por ende, una apendicetomía temprana minimizando tanto las tazas de complicaciones intraoperatorias como posoperatorias.

Clinical and metagenomic characteristics of lymphadenopathy related to fever of unknown origin in children.

Diagnosis of fever of unknown origin remains challenge for pediatricians. Lymphadenopathy is a separate entity that mainly originates from infection or malignancy. 168 patients with FUO accompanied by lymphadenectasis were reviewed. 33 lymph node tissue samples were examined by mNGS. Differences in clinical characteristics were compared among different disease groups. The value of mNGS in diagnosing and improving the clinical situation was assessed. Multivariate analysis revealed that hepatosplenomegaly and LDH levels were associated with infectious diseases. Arthralgia was correlated with non-infectious inflammatory diseases. Weight loss and a node located in supraclavicular region may indicate neoplastic diseases. mNGS-positive rate was 60.60%, higher than that obtained with traditional methods. Treatment for 3/4 patients was adjusted according to the pathogen detected by mNGS, and antibiotics uses was discontinued or degraded in over 1/2 of the patients according to mNGS results. Clinical characteristics of children with lymphadenopathy related to FUO have limited diagnostic value for distinguishing different kinds of diseases, while mNGS of lymph node tissue serves as a useful tool for identifying infectious diseases, especially those caused by rare pathogens. mNGS results can lead to not only adjustments in targeted treatment but also further confirmation of underlying diseases. 1. The clinical features of children with FUO and lymphadenopathy differ according to disease group,although multivariate analysis indicated little diagnostic value for these features. 2. mNGS on lymph node tissue from children with FUO may serve as a efficient tool for distinguishing infectious diseases from other diseases. This is especially useful when a diagnosis cannot be determined with traditional methods. 3. mNGS targeted treatment can be administered in a timely manner and some underlying diseases can be indicated.

Clinical characteristics of children with Borrelia-related peripheral facial palsy and utility of cerebrospinal fluid testing.

To describe the aetiology and clinical characteristics of acute peripheral facial palsy (PFP) in children and investigate the utility of the European Federation of Neurological Societies (EFNS) criteria for diagnosing Borrelia-related PFP (BPFP) based on cerebrospinal fluid (CSF) testing and the Centers for Disease Control and Prevention (CDC) criteria based on serology. We retrospectively identified children aged <18 years diagnosed with acute PFP between 2014 and 2020. We used the EFNS criteria as the gold standard and the CDC criteria for diagnosing BPFP. Out of 257 children with PFP, 93 (36%) fulfilled the EFNS or CDC criteria for BPFP. We found a discrepancy between the EFNS criteria with CSF testing and the CDC without CSF testing in 27 (14%) of the 190 children with available data. Of the 37 children with PFP and ≥2 symptoms of fever, fatigue, nausea/vomiting or meningeal symptoms, 31 (84%) fulfilled the EFNS criteria for BPFP. Borrelia is a common cause of PFF in children, and its prevalence is higher in children with systemic symptoms. Also, CSF testing did not have decisive management implications in most cases. Therefore, clinical evaluation and Borrelia serology could be the initial steps in the diagnosis of PFP in children.

RISK FACTORS AND CLINICAL CORRELATIONS OF URINARY TGF-Β1 IN CHILDREN WITH JUVENILE IDIOPATHIC ARTHRITIS AND EARLY KIDNEY FIBROSIS

The course of juvenile idiopathic arthritis (JIA) is associated with a long-term infl ammatory process and the use of nonsteroidal anti-infl ammatory drugs (NSAIDs), which can cause nephrotoxicity with fi brotic kidney damage in patients with JIA. Regardless of the etiology of joint damage, prolonged infl ammation promotes the progression of fi brosis, and renal fi brosis is the fi nal common stage of chronic kidney disease (CKD). Kidney biopsy, which is invasive, risky and underutilized, is generally considered the only clinical method to detect fi brosis. Over the past decade, some progress has been made in the search for minimally invasive biomarkers of early kidney fi brosis, with transforming growth factor-β1 (TGF-β1) playing a key role in the progression of kidney fi brosis, but the signifi cance of TGF-β1 in children with JIA is unknown.Material and Methods: 80 children with JIA were examined. Urinary TGF-β1 levels were determined using a TGF-β1 ELISA kit(DRG International, Inc., Germany, EIA-1864) according to the manufacturer’s instructions. Methods of variation statistics were used. Informed consent was obtained from all patients. The study has a positive conclusion of the Commission on Biomedical Ethics of Dnipro State Medical University (Minutes of the meeting of the Commission No. 12 dated December 19, 2002), which decided that the scientifi c research can be considered in accordance with generally accepted moral standards, the requirements of respecting the rights, interests and personal dignity of study participants, bioethical standards for work with pediatric patients. There is no risk to the research subjects in the performance of the work. The legal representatives of the children involved in the research are informed about all aspects related to the purpose, objectives, methods and expected benefi ts of the research. Laboratory and instrumental research methods are generally accepted; the drugs to be used are approved for use. No human experiments were performed.Methods of variation statistics were used. Statistical analysis was performed using the STATISTICA 6.1 software package(StatSoft Inc., serial no. AGAR909E415822FA). The work was carried out as part of the research work of the Department of Propaedeutic of Childhood Diseases and Pediatrics 2 of the Dnipro State Medical University «Development of criteria for early diagnosis and prediction of comorbid kidney damage in children with somatic and infectious diseases» (state registration No. 0119U100932, implementation period 01.2019-12.2023).Results. The mean TGF-β1 level in our study was 20.26±16.34 (14.02, 12.5-17.98) pg/ml. Polyarthritis almost quadrupledthe probability of pathological changes in TGF-β1. The overwhelming majority of children with elevated TGF-β1 suff ered from polyarthritis (80.0 %) – one and a half times more often than those with relatively normal TGF-β1 concentration, p&lt;0.04.If the active stage of the disease lasted at least 4 years, the probability of elevated TGF-β1 increased more than sixfold. Thetendency of signifi cant nephrotoxic eff ect of prolonged active JIA was confi rmed by the results of correlation analysis, according to which, in general, the duration of active JIA was directly related to the increase of TGF-β1 (ρ=0.38, p&lt;0.001), and the duration of remission and the total duration of JIA had no signifi cant correlation with it (ρ= –0.19 and ρ=0.18, respectively, p&gt;0.05). The direct dependence of elevated urinary TGF-β1 levels on clinical features such as polyarthritis and the duration of the active phase of JIA has been demonstrated. These clinical features in children with JIA can be considered as risk factors for the development of early renal fi brosis. Against the background of elevated TGF-β1, a reduced GFR according to the Hoek formula (&lt;90 ml/min/1.73 m2) was found in 95 % of cases, i. e. the estimates of the functional state of the kidneys obtained by two diff erent methods were quite clearly the same. In the sample with TGF-β1&lt;17.98 pg/ml, 22.76 % of children received immunobiologic therapy, while in the sample to increase TGF-β1 – only 14.76 %. Immunobiological therapy reduced the risk of increasing this urinary marker by 5.5 times.Conclusions. Elevated levels of the TGF-β1 biomarker were found in 25 % of children with JIA. An association of early renalfi brosis with duration of active phase of JIA ≥ 4 years, increased ESR, polyarthritis, arterial hypertension, and dental carieswas observed. Elevated urinary TGF-β1 levels are associated with reduced eGFR and are observed in almost all children witheGFR&lt;90 ml/min/1.73 m2, confi rming the importance of early renal fi brosis in the development of renal dysfunction.

Gene variants and clinical characteristics of children with sitosterolemia

ObjectiveTo enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.MethodsIn this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phytosterol levels, cardiac/carotid artery ultrasounds, fundus examinations, and treatment were collected.ResultsThe majority (19, 73.1%) of the 26 patients exhibited xanthomas as the most prevalent manifestation. The second most common symptoms were joint pain (7, 26.9%) and stunted growth (4, 15.4%). Among the 24 (92.3%) patients whose genetics were analyzed, 16 (66.7%) harbored ABCG5 variants (type 2 sitosterolemia), and nearly one-third (8, 33.3%) harbored ABCG8 variants (type 1 sitosterolemia). Additionally, the most common pathogenic ABCG5 variant was c.1166G > A (p.Arg389His), which was found in 10 patients (66.7%). Further analysis did not indicate any significant differences in pathological traits among those carrying ABCG5 and ABCG8 variations (P > 0.05). Interestingly, there was a greater abundance of nonsense variations in ABCG5 than in ABCG8 (P = 0.09), and a greater frequency of splicing variations in ABCG8 than ABCG5 (P = 0.01). Following a change in diet or a combination of ezetimibe, the levels of cholesterol and low-density lipoprotein were markedly decreased compared to the levels reported before treatment.ConclusionSitosterolemia should be considered for individuals presenting with xanthomas and increased cholesterol levels. Phytosterol testing and genetic analysis are important for early detection. Managing one’s diet and taking ezetimibe can well control blood lipids.

Sociodemographic and Clinical Characteristics of Delinquent Children and Factors Associated with Recidivism

Introduction: Many studies have shown that the prevalence and rate of delinquency in adolescents tends to increase during adolescence and decreases rapidly from the 20s to the early 30s. Juvenile delinquency is considered as a serious social problem because it is often occurs at a young age, is repeated and is often committed as a group. In this study, we aimed to investigate the demographic and clinical characteristics of children between the ages of 12 and 18 who engage in delinquent behavior and the factors that contribute to recidivism. Methods: Children between the ages of 12 and 18 who were referred by the judicial authorities for alleged crimes were included in the study. The files of the children were reviewed retrospectively. Age, gender, psychiatric diagnoses, types of crimes, intelligence levels, family history of crime, number of crimes were evaluated and the factors associated with recidivism behaviors were investigated. Results: A total of 91 children referred by the judicial authorities to the outpatient clinic for child and adolescent psychiatry were included in the study. The average age of the children at the time of the offense was 14.10±1.25 years and 87 (95.6%) were boys and 4 (4.4%) were girls. At least one active psychopathology was found in 38 (41.8%) of the cases. The most frequent psychiatric disorders among the psychopathologies during the study were attention deficit hyperactivity disorder in 19 (50.0%) children and conduct disorder in 17 (44.7%) children. The presence of a family criminal history (p=0.024), school attendance (p

The identification of risk factors and outcomes of cerebrospinal fluid shunt infections caused by carbapenem-resistant gram-negative bacteria in children: a retrospective cohort.

Cerebrospinal fluid (CSF) shunt infections caused by gram-negative bacteria are difficult to treat given the limited treatment options and the emergence of carbapenem-resistant (CR) strains. This study aimed to evaluate the demographic and clinical characteristics of children with CSF shunt and external ventricular drain (EVD) infections caused by gram-negative bacteria, to identify the risk factors for acquiring CR CSF shunt infections, and to report on the clinical outcomes of these infections. A retrospective cohort study was designed to evaluate pediatric patients with CSF shunt and EVD infections caused by gram-negative bacteria between January 2013 and February 2023. A total of 64 episodes in 50 patients were evaluated. There were 45 (70.3%) CSF shunt infections and 19 (29.7%) EVD infections. The median (range) ages were 1.4 years (9 months-17.5 years) for CSF shunt infection patients and 4.2 years (1 month-17 years) for EVD infection patients. The most common isolated gram-negative bacteria species in CSF shunt infections were Pseudomonas spp. (12, 26.7%), followed by Escherichia coli (11, 24.4%), Klebsiella pneumoniae (9, 20%), and Enterobacter cloacae (5, 11.1%). In EVD infections, the most common isolated gram-negative bacteria species were Acinetobacter spp. (6, 31.6%), followed by Pseudomonas spp. (4, 21.1%) and E. coli (3, 15.8%). The carbapenem resistance rate was 26.3% (n = 5) in EVD infections and 26.2% (n = 11) in CSF shunt infections. When risk factors for carbapenem resistance were evaluated for CSF shunt infections, prior carbapenem treatment and a prolonged hospital stay > 7 days were risk factors for the CR group (p = 0.032 and p = 0.042, respectively). In definitive treatment, colistin was statistically more commonly used in the CR group (p = 0.049). When outcomes were evaluated, the 30-day mortality rate (18.2% vs 0%) was higher in the CR group, without a significant difference (p = 0.064). A prolonged hospital stay > 7 days and prior carbapenem exposure within 30 days were associated with CR shunt infections caused by gram-negative bacteria.

Myocarditis in children.Etiology. Pathogenesis. Epidemiology. Clinical presentation

Readers will be presented with a series of articles on myocarditis in children, which are based on clinical guidelines developed by a group of authors on this topic. Myocarditis is an inflammatory myocardial disease characterized by a wide range of clinical manifestations — from minor to sudden cardiac death. Given the absence of pathognomonic symptoms, as well as the similarity of manifestations in the onset with common childhood diseases such as respiratory distress, gastrointestinal diseases, infectious pathology, specialists often overlook the likelihood of a diagnosis of “myocarditis”, which causes a late start of therapy and an adverse outcome. Considering that myocarditis accounts for 12% of cases of sudden cardiac death in adolescents and young adults, suspicion of this disease in differential diagnosis in children with nonspecific symptoms and disease progression may be the key to the formation of a proper treatment strategy. Despite significant advances in the study of myocarditis in both adults and children, there are still many unresolved issues. The purpose of this article is to highlight the current view of the etiology, pathogenesis, epidemiology and clinical features in children with various types of myocarditis in order to increase the knowledge of practitioners for better clinical management of patients with myocarditis.