Syndrome In Children Research Articles

Enhanced CD95 and interleukin 18 signalling accompany T cell receptor Vβ21.3+ activation in multi-inflammatory syndrome in children.

Multisystem inflammatory syndrome in children is a post-infectious presentation SARS-CoV-2 associated with expansion of the T cell receptor Vβ21.3+ T-cell subgroup. Here we apply muti-single cell omics to compare the inflammatory process in children with acute respiratory COVID-19 and those presenting with non SARS-CoV-2 infections in children. Here we show that in Multi-Inflammatory Syndrome in Children (MIS-C), the natural killer cell and monocyte population demonstrate heightened CD95 (Fas) and Interleuking 18 receptor expression. Additionally, TCR Vβ21.3+ CD4+ T-cells exhibit skewed differentiation towards T helper 1, 17 and regulatory T cells, with increased expression of the co-stimulation receptors ICOS, CD28 and interleukin 18 receptor. We observe no functional evidence for NLRP3 inflammasome pathway overactivation, though MIS-C monocytes show elevated active caspase 8. This, coupled with raised IL18 mRNA expression in CD16- NK cells on single cell RNA sequencing analysis, suggests interleukin 18 and CD95 signalling may trigger activation of TCR Vβ21.3+ T-cells in MIS-C, driven by increased IL-18 production from activated monocytes and CD16- Natural Killer cells.

Dietary intake, obesity, and metabolic risk factors among children and adolescents in the SEACO-CH20 cross-sectional study.

We investigated the association between dietary intake and metabolic risk factors in children and adolescents within a semi-rural Malaysian community. Using an interviewer-led questionnaire, we surveyed 623 participants aged 7-18 from the South East Asia Community Observatory (SEACO). Anthropometric and blood pressure data were collected from all participants, while a subset (n = 162) provided blood samples for biomarker analysis, including fasting blood glucose (FBG), total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C). Metabolic syndrome was determined using the International Diabetes Federation's Definition of Metabolic Syndrome in Children and Adolescents. Most participants were Malay (66.8%), with a median household income of MYR1,500 and a balanced sex distribution. Cereals, processed foods, beverages, fruits, and vegetables were commonly consumed. Obesity and abdominal obesity were prevalent, affecting more than a third of participants. Adherence to dietary recommendations was generally poor (ranging from 19.9 to 58.1%) and varied across age, sex, and ethnicity. Notably, some food groups displayed unexpected associations with health markers; for instance, fruit consumption was linked to abdominal obesity in children (abdominal obesity vs. normal: 2.4 servings/day vs. 1.6 servings/day). These findings emphasise the necessity of longitudinal studies to explore the complex relationship between diet and long-term health outcomes, including cardiometabolic diseases, while acknowledging the unique challenges posed by the COVID-19 pandemic on data collection and analysis.

Choroidal Nevi in Children: Size, Growth, and Topographic Distribution.

To explore size, growth, and topographic distribution of choroidal nevi in children to gain insights into choroidal nevogenesis. Retrospective consecutive case series using pediatric clinic - and population - study data, comparing to adult data. Clinical data from Cole Eye Institute (CEI) database (December 2005-January 2023) was derived from a retrospective consecutive case series of 20 children (< 20 years) with choroidal nevi. For population data, 48 children from previously reported pooled data of the participants of Sydney Pediatric Eye Disease Study, Sydney Myopia Study, Sydney Childhood Eye Study, and Sydney Adolescent Vascular and Eye Disease Study were included. Fundus photographs were reviewed and the locations of 18 choroidal nevi seen at CEI with widefield imaging were mapped on a radial scatter plot. For comparison, 100 consecutive adults with choroidal nevi were identified from CEI database. Main outcomes were size, growth, and topographic distribution of choroidal nevi. The median largest basal diameter was 1.6 mm (range 0.4-4.2) in children. Most choroidal nevi (75%) remained stable, and 16% demonstrated growth at follow-up. The mean growth rate was calculated as 0.12 mm/year (range 0.10-0.15). Malignant transformation was not noted during childhood. All secondary changes (drusen, orange pigment, and subretinal fluid) associated with choroidal nevi in children were less common than those in adults (p<0.05). Choroidal nevi in children were located significantly more posterior than in adults. The median distance to fovea was 2.1 mm (range 0.5-8.5) in children and 5.1 mm (range 0.4-16) in adults (p<0.0001). The onset and growth of choroidal nevi in children suggest active choroidal nevogenesis in childhood. A posterior topographic distribution may support the developmental framework for migration and maturation of choroidal melanoblasts.

IFIH1 loss of function predisposes to inflammatory and SARS-CoV-2-related infectious diseases.

The IFIH1 gene, encoding melanoma differentiation-associated protein 5 (MDA5), is an indispensable innate immune regulator involved in the early detection of viral infections. Previous studies described MDA5 dysregulation in weakened immunological responses, and increased susceptibility to microbial infections and autoimmune disorders. Monoallelic gain-of-function of the IFIH1 gene has been associated with multisystem disorders, namely Aicardi-Goutieres and Singleton-Merten syndromes, while biallelic loss causes immunodeficiency. In this study, nine patients suffering from recurrent infections, inflammatory diseases, severe COVID-19 or multisystem inflammatory syndrome in children (MIS-C) were identified with putative loss-of-function IFIH1 variants by whole-exome sequencing. All patients revealed signs of lymphopaenia and an increase in inflammatory markers, including CRP, amyloid A, ferritin and IL-6. One patient with a pathogenic homozygous variant c.2807+1G>A was the most severe case showing immunodeficiency and glomerulonephritis. The c.1641+1G>C variant was identified in the heterozygous state in patients suffering from periodic fever, COVID-19 or MIS-C, while the c.2016delA variant was identified in two patients with inflammatory bowel disease or MIS-C. There was a significant association between IFIH1 monoallelic loss of function and susceptibility to infections in males. Expression analysis showed that PBMCs of one patient with a c.2016delA variant had a significant decrease in ISG15, IFNA and IFNG transcript levels, compared to normal PBMCs, upon stimulation with Poly(I:C), suggesting that MDA5 receptor truncation disrupts the immune response. Our findings accentuate the implication of rare monogenic IFIH1 loss-of-function variants in altering the immune response, and severely predisposing patients to inflammatory and infectious diseases, including SARS-CoV-2-related disorders.

Expert consensus on the diagnosis and treatment of androgen insensitivity syndrome in children

Expert consensus on the diagnosis and treatment of androgen insensitivity syndrome in children

Should aortic stiffness parameters be used in MIS-C patient follow-up?

We evaluated the short- and long-term effects of multisystem inflammatory syndrome in children (MIS-C) on their cardiovascular system. The study population consisted of 38 MIS-C patients and 55 control patients. Standard echocardiographic measurements and aortic stiffness parameters were compared between the two groups at different time points. During the standard echocardiographic examination at the time of diagnosis, mitral valve insufficiency was detected in 42% of the cases, left ventricular systolic dysfunction in 36%, aortic valve insufficiency in 3%, tricuspid valve insufficiency in 13%, and coronary artery dilatation in 31%. The ejection fraction, pulse pressure of the experimental group were significantly lower than the control group (p < 0.01, p = 0.045, respectively). When aortic stiffness parameters were compared, it was seen that the parameters increased in the experimental group and the difference was significant for aortic distensibility. (p = 0.105, p = 0.029 respectively). When comparing the experimental group's results at diagnosis and at the sixth month, there was a decrease in aortic stiffness parameters at the sixth month compared to the time of diagnosis, but the difference wasn't significant (p = 0.514, p = 0.334). However, no statistically significant difference was detected when comparing the aortic distensibility results of the experimental group with the control group at the sixth month (p = 0.667). Our results showed that many pathological echocardiographic findings detected at diagnosis in MIS-C patients returned to normal within six months. Therefore, we believe that the cardiovascular follow-up period of MIS-C cases should be at least six months.

Case Report: Atypical acute compartment syndrome of the forearm in a child following minor trauma with consecutive osteomyelitis

IntroductionForearm compartment syndrome (CS) in children is above all a clinical diagnosis whose main cause is traumatic. However, rarer causes such as infection can alter its clinical presentation.Clinical caseAn 8-year-old boy has been seen in the emergency department complaining of severe forearm pain under a splint in a mild traumatic context. The previous radiological imaging examination three days before had not revealed any fractures. On admission, he presented with major signs of skin inflammation, loss of mobility, paresthesia and a significant biological inflammatory syndrome. The acute CS diagnosis has been made and was treated, but its atypical presentation raised a series of etiological hypotheses, in particular infectious, even if it remains rare. Complementary imaging examinations confirmed the presence of osteomyelitis of the distal radius as well as an occult Salter-Harris II fracture.DiscussionBeyond the classic “five P's of CS” -pain, paresthesia, paralysis, pallor and pulselessness-, CS's clinical presentations are multiple, especially in pediatric patients. In children, severe pain and increasing analgesic requirement must be indicators of a CS. We hypothesize that this patient sustained a nondisplaced Salter-Harris II fracture with a hematoma colonized by hematogenous osteomyelitis explaining its initial clinical presentation.ConclusionHematogenous osteomyelitis complicated by CS is rare and may be accompanied by a traumatic history. It's atypical presentation in pediatric patients requires vigilance and prompt diagnosis given the disastrous and irreversible complications.

Current status and challenges in the diagnosis and treatment of androgen insensitivity syndrome in Chinese children

Current status and challenges in the diagnosis and treatment of androgen insensitivity syndrome in Chinese children

Cerebral Malformations Related to Coronavirus Disease 2019 during Pregnancy

AbstractThe pandemic of severe-acute-respiratory-syndrome-related coronavirus (SARS-Cov-2) has shown a wide spectrum of possible consequences in children, ranging from asymptomatic patients to the development of severe conditions, such as multisystem inflammatory syndrome in children and encephalopathies related to cytokine storm. Specifically, neurological and neuroimaging abnormalities, ranging from mild-to-the severe ones, have been documented in children as well, such as postinfectious immune-mediated acute disseminated encephalomyelitis, myelitis, neural enhancement, cranial nerve enhancement, and cortical injury, also without neurological symptoms. Considering the neurotropism of coronaviruses and SARS-Cov-2, which has been well described in the literature, we reviewed the literature reporting possible cerebral malformation in neonates due to the infection of SARS-Cov-2 in pregnancy. Coronavirus disease 2019 (COVID-19) during pregnancy might develop cerebral disorders in several ways. Articles in English in the literature were screened using the following search terms: (1) “brain malformations” AND “COVID-19”; (2) “cerebral malformations” AND “COVID-19”; (3) brain malformations AND “Sars-Cov-2”; (4) “cerebral malformations “AND “Sars-Cov-2.” Considering the congenital brain malformation found in newborns exposed to infection of SARS-Cov-2 pre- or neonatally, we identified one paper which reported three neonates with cerebral malformation. Although sporadic, cerebral malformations like atypical signals in white matter with delayed myelination, brain dysplasia/hypoplasia with delayed myelination, and unusual signals in the periventricular regions have been documented.

Congenital Long QT Syndrome in Children and Adolescents: A General Overview

Congenital Long QT Syndrome in Children and Adolescents: A General Overview

Metabolic syndrome in children and adolescents

Background: Metabolic syndrome is a serious condition associated with multiple diseases. The prevalence of metabolic syndrome is increasing caused by an increase in obesity rates among children and adolescents.Current Concepts: Owing to the various definitions used, there is lack of consensus regarding the diagnostic criteria for metabolic syndrome in children and adolescents. Although the exact pathogenesis remains unclear, insulin resistance and subsequent inflammation are key mechanistic contributors. Metabolic syndrome is characterized by overweight and obesity accompanied by abnormalities in glucose metabolism, dyslipidemia, and hypertension and is associated with other conditions such as fatty liver, polycystic ovary syndrome, and a pro-inflammatory state. Prevention and management of metabolic syndrome can be achieved through lifestyle modifications, behavioral interventions, pharmacotherapy, and surgical interventions.Discussion and Conclusion: Childhood and adolescent obesity serves as a risk factor for metabolic syndrome during later life. Early identification and intervention are important to prevent the progression of metabolic syndrome. Clinicians must identify at-risk children and adolescents and provide guidance for the prevention and management of metabolic syndrome.

Modern concepts about cyclic vomiting syndrome in children

Despite the relatively low prevalence in the world and in Russia, in particular, of such a pathology as cyclic vomiting syndrome, the relevance of the problem is due to the lack of research and sufficient information about the etiology, pathogenesis, and most importantly about methods of treatment and prevention of the disease. This syndrome is typical for children aged 3 to 7 years and is manifested by repeated stereotypical episodes of vomiting, alternating with periods of complete well-being. Cyclic vomiting syndrome worsens the child’s quality of life and seriously affects their further development and socialization. The article provides an overview of scientific research on cyclic vomiting syndrome in children.

Patients with Steroid Sensitive Nephrotic Syndrome: A Case Series

Nephrotic syndrome (NS) is one of the most common kidney diseases found in childhood. The prevalence of nephrotic syndrome worldwide is approximately 16 cases per 100,000 children with an incidence of two to seven per 100,000 children. Nephrotic syndrome may affect adults and children of both genders and any race. Nephrotic syndrome in children can be classified into three groups; secondary, congenital, infantile, and idiopathic. In first case, a 3-year-old male patient was presented with complaints of fever, cough for 6 days and swelling all over the body, decreased urine output, oral intake for 2 days, edema of face, body and tiredness for 3 days. Laboratory investigations showed elevated ESR, ferritin and lipid profile. Urine routine examination showed elevated urine albumin levels (+++). USG abdomen and pelvis conveyed right basal pleural effusion. In second case, a 4-year-old male patient was presented with complaints of facial puffiness, fever, breathing difficulty, abdominal distension and pain but no edema. He had history of right inguinal hernia and atrial septal defect. Cholesterol level was found to be elevated. Urine routine examination showed elevated urine albumin levels (+++). USG abdomen and pelvis showed mild ascites and right pleural effusion. Presenting third case, a 12-year-old female patient was presented with complaints of edema and decreased urine output. Patient had history of recurrent episodes of edema and decreased urine output for 11 months. Laboratory investigations showed elevated total cholesterol, declined LFT test and RFT test was found to be normal. Urine routine examination showed elevated urine albumin levels (+++), pus cells, RBC, granular cast and bacteria present. USG abdomen and pelvis indicate acute glomerulo nephritis and acute to moderate ascites. Here case series with 3 cases showed the sequence of nephrotic syndrome which is treated with corticosteroid with its side effects and cumulative dose of steroid in children. Keywords: Nephrotic syndrome, Hypocholesteremia, Hypoproteinuria, Hyponatremia, pediatric

Epidemiological Characteristics of Shiga Toxin-Producing Escherichia coli Responsible for Infections in the Polish Pediatric Population.

Shiga toxin-producing Escherichia coli (STEC) are zoonotic pathogens causing hemorrhagic colitis and hemolytic uremic syndrome (HUS) in children and the elderly. Stool samples were collected from 180 children hospitalized in five pediatric centers in Poland in 2018-2022. Direct stx1/stx2 gene detection by PCR in feces and E. coli isolates was performed. Antibiotic susceptibility was tested according to EUCAST v.12. Randomly selected isolates were serotyped with O157 antiserum and genotyped by pulsed-field gel electrophoresis (PFGE). A total of 44 E. coli isolates were confirmed as STEC by PCR. Among them, 84.4% were positive for stx2, and equally 6,8% for only stx1 and both stx1 and stx2 genes. The stx1 gene was also found in one Citrobacter freundii isolate. E. coli serotype O157 was present in 97.6% of the isolates. STEC infections most often occurred between June-October with a peak in July and August (51%). The highest, 77.8% of STEC isolates were found in the 1-5 years old group. No extended-spectrum β-lactamases (ESBL) were found. Resistance only to amoxicillin/clavulanic acid (24.4%), piperacillin/tazobactam (3%), cefotaxime (6%), gentamicin (6%), ciprofloxacin (3%), azithromycin (3%), trimethoprim/sulfamethoxazole (24,2%) was detected. PFGE analysis showed 18 PFGE types with no clonal distribution. Eight isolates with A, B, and C PFGE types showed genetic relatedness in the type with no detection of transmission way of distribution. STEC strains pose a serious threat to human health, therefore demographic and epidemiological characteristics are crucial for their surveillance.

The Association Between Early Initiation of Systemic Corticosteroids and the Hospital Length of Stay in Patients With Multisystem Inflammatory Syndrome in Children.

Patients with multisystem inflammatory syndrome in children (MIS-C) often require hospital admission. Treatment of MIS-C has included intravenous immunoglobulin, systemic corticosteroids, and/or immunomodulators. There is no standardized approach to when steroids should be initiated during treatment. The study objective was to determine whether early initiation of steroids in patients with MIS-C is associated with the duration of hospital length of stay (LOS). This is a single-center retrospective cohort study of patients younger than 21 years who were hospitalized with MIS-C between March 2020 and September 2021 and received steroids. Cases were obtained from an institutional MIS-C log. Patients with culture proven sepsis and/or those who received intravenous immunoglobulin or steroids within the previous 30 days were excluded. We used a multivariable linear regression model, controlling for potential confounders, to assess the association between early steroids and LOS. A total of 56 patients hospitalized with MIS-C were identified; 38 received systemic corticosteroids and were included in the study. The mean time from admission to steroid administration was 9.8 hours (SD = 7.7) in the early group and 44.6 hours (SD = 14.2) in the late group. There was a statistically significant difference in baseline characteristics of patients receiving early versus late steroids in initial C-reactive peptide, procalcitonin, brain natriuretic peptide, and cardiac dysfunction. After controlling for confounders, initiating steroids within 24 hours of admission for MIS-C was associated with a decreased hospital LOS: in patients treated with early steroids, LOS was 58.3 hours less (95% confidence interval, -100.0 to -16.6; P = 0.007) than in those who received late steroids. Among patients with MIS-C, initiating systemic corticosteroids within 24 hours of admission was associated with decreased hospital LOS.

Multisystemic inflammatory syndrome in children and the BNT162b2 vaccine: a nationwide cohort study.

This research demonstrates that vaccinating children and adolescents against COVID-19 has reduced the risk of MIS-C during the study period. • Most of the published literature regarding vaccine effectiveness is based on case-control studies, which are limited due to small sample sizes and the inability to fully estimate the risk of MIS-C among vaccinated and unvaccinated children and adolescents. • The known underestimation of COVID-19 diagnosis among children and adolescents is challenging, as they often have few to no symptoms. • Significant risk difference was found in favor of the vaccinated group, even after including extreme assumptions regarding the underdiagnosed COVID-19 rate. • During this nationwide study period, it was found that vaccinating children and adolescents reduced the risk of MIS-C and its complications.

Association between Mothers' Working Hours and Metabolic Syndrome in Children and Adolescents: Data from the Korea National Health and Nutrition Examination Survey, 2016-2020.

Prevention and management of metabolic syndrome (MetS) during childhood are crucial. Recently, obesity among children and adolescents has increased with an increase in mothers' working hours. The present study was conducted to determine the relationship between mothers' working hours and MetS in their children. Data from the 2016-2020 National Health and Nutrition Examination Survey were used, and 2,598 children and adolescents aged 10-18 years were included. Logistic regression analysis was conducted to confirm the association between MetS and mothers' working hours for each risk factor. Linear regression analysis was conducted to confirm the association between mothers' working hours and the number of risk factors for MetS. Abdominal obesity in children was higher when the mothers' working hours were 53 hours or more (odds ratio [OR], 2.267; 95% confidence interval [CI], 1.21-4.25). In the trend analysis, the OR of children's abdominal obesity increased significantly as mothers' working hours increased (P-value <0.05). Additionally, sex-stratified analysis revealed a significant trend between maternal work hours and the presence of MetS in female children (P=0.016). The adjusted OR of the presence of MetS in female children with mothers working 53 hours or more weekly was 6.065 (95% CI, 1.954-18.822). Mothers' working hours were highly correlated with the risk of abdominal obesity in their children. The OR of the presence of MetS significantly increased in female children with mothers having longer working hours compared with those with stay-at-home mothers.

Multisystem inflammatory syndrome in children: A review.

To comprehensively review the literature on multisystem inflammatory syndrome in children (MIS-C). Narrative review of relevant studies published between April 2020 and January 2024. MIS-C is a SARS-CoV-2-related hyperinflammatory syndrome developing 2-6 weeks after COVID-19 in genetically susceptible individuals. Persisting fever, mucocutaneous manifestations, GI and cardiac involvement, together with lymphopenia and elevated inflammatory and cardiac markers are the main clinical features. It is believed to recognise some pathogenetic and clinical overlap with Kawasaki disease. New case definitions have been proposed after an assessment of the diagnostic performance of existing criteria; epidemiological criterion is however progressively losing its usefulness as the pandemic turns into an endemic and in the areas with the highest rates of COVID-19 vaccination. Current guidelines recommend both intravenous immunoglobulin and glucocorticoids in the first-line immunomodulatory treatment, mainly based on comparative retrospective cohorts; the actual role of biologics remains to be adequately established. Strict follow-up is mandatory, especially for those with severe cardiac involvement, as longitudinal studies evaluate the long-term evolution of cardiac damage. In this paper, we review the epidemiological, pathogenetic, clinical and prognostic features of MIS-C, and outline the main questions which still remain unanswered after more than 3 years of research.

Atypical Dermatological Presentation of Multisystem Inflammatory Syndrome in a Child with Polyarticular JIA: A Case Report

Multisystem inflammatory syndrome in children (MIS-C) is an inflammatory process that occurs after infection with SARS-CoV-2 virus. In this syndrome children usually present with fever, rash, abdominal pain, diarrhea or vomiting, hypotension and shock. Children may need urgent care if heart, blood vessels or other vital organs are involved. Poly-articular Juvenile Idiopathic arthritis is a subset of JIA defined by presence of arthritis of five or more joints within 6 months of disease onset along with other criteria of JIA. In this case report we report mucocutaneous manifestation of MIS-C in a child with poly-articular rheumatoid factor (RF) negative JIA case. BANGLADESH J CHILD HEALTH 2022; VOL 46 (2) : 86-88

Capgras syndrome in children and adolescents: A systematic review

ObjectivesTo improve understanding of Capgras syndrome (CS) in the pediatric population, this study investigates its clinical features and discerns similarities and differences compared to CS in adults. MethodsWe conducted a descriptive systematic review of case reports following PRISMA guidelines, including cases of pediatric patients with CS. Patient demographics, medical and psychiatric history, imposter identity, underlying diagnosis, clinical manifestation, treatments, and outcomes were extracted and analyzed. ResultsWe included 37 articles comprising 38 cases. The median age of patients was 15, with 23 (60.5%) being male. The most prevalent underlying diagnoses were schizophrenia spectrum and other psychotic disorders (47.3%). Imposter identity involved parents in 32 cases (84.2%). Associated symptoms included persecutory delusions (63.1%), auditory hallucinations (42.1%), aggression (31.5%), and depression (21.0%). ConclusionThere is a significant gap in our understanding of CS, particularly in pediatric patients. This is the first systematic review of CS in pediatric patients, encompassing all cases found in English literature since 1923.