World journal of clinical pediatrics最新文献

Background: There is evolving role of computed tomography coronary angiography (CTCA) in non-invasive evaluation of coronary artery abnormalities in children with Kawasaki disease (KD). Despite this, there is lack of data on radiation dose in this group of children undergoing CTCA.

Aim: To audit the radiation dose of CTCA in children with KD.

Methods: Study (December 2013-February 2018) was performed on dual source CT scanner using adaptive prospective electrocardiography-triggering. The dose length product (DLP in milligray-centimeters-mGy.cm) was recorded. Effective radiation dose (millisieverts-mSv) was calculated by applying appropriate age adjusted conversion factors as per recommendations of International Commission on Radiological Protection. Radiation dose was compared across the groups (0-1, 1-5, 5-10, and > 10 years).

Results: Eighty-five children (71 boys, 14 girls) with KD underwent CTCA. The median age was 5 years (range, 2 mo-11 years). Median DLP and effective dose was 21 mGy.cm, interquartile ranges (IQR) = 15 (13, 28) and 0.83 mSv, IQR = 0.33 (0.68, 1.01) respectively. Mean DLP increased significantly across the age groups. Mean effective dose in infants (0.63 mSv) was significantly lower than the other age groups (1-5 years 0.85 mSv, 5-10 years 1.04 mSv, and > 10 years 1.38 mSv) (P < 0.05). There was no significant difference in the effective dose between the other groups of children. All the CTCA studies were of diagnostic quality. No child required a repeat examination.

Conclusion: CTCA is feasible with submillisievert radiation dose in most children with KD. Thus, CTCA has the potential to be an important adjunctive imaging modality in children with KD.

Background: Smell disorders are the most frequent persistent coronavirus disease 2019 (COVID-19) complications.

Aim: To describe the patterns and characteristics of persistent smell and taste disorders in Egyptian patients.

Methods: Assessment was done to 185 patients (adults = 150, age: 31.41 ± 8.63 years; children = 35; age: 15.66 ± 1.63 years). Otolaryngology and neuropsychiatric evaluations were done. Measurements included: A clinical questionnaire (for smell and taste); sniffin' odor, taste and flavor identification tests and the Questionnaire of Olfactory Disorders-Negative Statements (sQOD-NS).

Results: Duration of disorders was 11.53 ± 3.97 ms (6-24 ms). Parosmia (n = 119; 64.32%) was developed months after anosmia (3.05 ± 1.87 ms). Objective testing showed anosmia in all, ageusia and flavor loss in 20% (n = 37) and loss of nasal and oral trigeminal sensations in 18% (n = 33) and 20% (n = 37), respectively. Patients had low scoring of sQOD-NS (11.41 ± 3.66). There were no specific differences in other demographics and clinical variables which could distinguish post-COVID-19 smell and taste disorders in children from adults.

Conclusion: The course of small and taste disorders are supportive of the nasal and oral neuronal compromises. Post-COVID-19 taste and trigeminal disorders were less frequent compared to smell disorders. Post-COVID-19 flavor disorders were solely dependent on taste and not smell disorders. There were no demographics, clinical variables at onset or specific profile of these disorders in children compared to adults.

Background: Gastroesophageal reflux disease (GERD) might be either a cause or comorbidity in children with extraesophageal problems especially as refractory respiratory symptoms, without any best methods or criterion for diagnosing it in children.

Aim: To evaluate the prevalence of extraesophageal GERD using conventional and combined-video, multichannel intraluminal impedance-pH (MII-pH), and to propose novel diagnostic parameters.

Methods: The study was conducted among children suspected of extraesophageal GERD at King Chulalongkorn Memorial Hospital between 2019 and 2022. The children underwent conventional and/or combined-video MII-pH. The potential parameters were assessed and receiver operating characteristic was used for the significant parameters.

Results: Of 51 patients (52.9% males), aged 2.24 years were recruited. The common problems were cough, recurrent pneumonia, and hypersecretion. Using MII-pH, 35.3% of the children were diagnosed with GERD by reflux index (31.4%), total reflux events (3.9%), and symptom indices (9.8%) with higher symptom recorded in the GERD group (94 vs 171, P = 0.033). In the video monitoring group (n = 17), there were more symptoms recorded (120 vs 220, P = 0.062) and more GERD (11.8% vs 29.4%, P = 0.398) by symptom indices. Longest reflux time and mean nocturnal baseline impedance were significant parameters for diagnosis with receiver operating characteristic areas of 0.907 (P = 0.001) and 0.726 (P = 0.014).

Conclusion: The prevalence of extraesophageal GERD in children was not high as expected. The diagnostic yield of symptom indices increased using video monitoring. Long reflux time and mean nocturnal baseline impedance are novel parameters that should be integrated into the GERD diagnostic criteria in children.

Coronavirus disease 2019 (COVID-19) typically presents with fever and respiratory symptoms in children. Most children develop an asymptomatic and mild illness, with a minority requiring specialist medical care. Gastrointestinal manifestations and liver injury can also occur in children following infection. The mechanisms of liver injury may include infection following direct viral hepatic tissue invasion, immune response, or medication effects. Affected children might develop mild liver dysfunction which has a benign course in most children with no pre-existing liver disease. However, the presence of non-alcoholic fatty liver disease or other pre-existing chronic liver disorders is associated with a higher risk of developing severe COVID-19 illness with poor outcomes. On the other hand, the presence of liver manifestations is associated with the severity of COVID-19 disease and is considered an independent prognostic factor. Respiratory, hemodynamic, and nutritional supportive therapies are the mainstay of management. Vaccination of children at increased risk of developing severe COVID-19 disease is indicated. This review describes the liver manifestations in children with COVID-19, detailing its epidemiology, basic mechanisms, clinical expression, management, and prognosis in those with and without pre-existing liver disease and also children who have had earlier liver transplantation.

Background: Mycoplasma pneumoniae (MP) is a prevalent pathogen that causes respiratory infections in children and adolescents.

Aim: To assess the differences in the clinical features of MP-associated community-acquired pneumonia (CAP) in children who presented with mild or severe mycoplasma pneumoniae pneumonia (MPP); to identify the incidence of myocardial damage between the two groups.

Methods: This work is a retrospective study. We identified children between 2 mo and 16 years of age with clinical and radiological findings consistent with CAP. We admitted patients to the inpatient department of the Second Hospital of Jilin University, Changchun, China, from January 2019 to December 2019.

Results: A total of 409 hospitalized patients were diagnosed with MPP. Among them were 214 (52.3%) males and 195 (47.7%) females. The duration of fever and cough was the longest in severe MPP cases. Similarly, plasma levels of highly sensitive C-reactive protein (t = -2.834, P < 0.05), alanine transaminase (t = -2.511, P < 0.05), aspartate aminotransferase (t = -2.939, P < 0.05), and lactate dehydrogenase (LDH) (t = -2.939, P < 0.05) were all elevated in severe MPP cases compared with mild MPP cases, and these elevations were statistically significant (P < 0.05). Conversely, the neutrophil percentage was significantly lower in severe MPP cases than in mild MPP cases. The incidence of myocardial damage was significantly higher in severe MPP cases than in mild MPP cases (χ² = 157.078, P < 0.05).

Conclusion: Mycoplasma pneumoniae is the main cause of CAP. The incidence of myocardial damage was higher and statistically significant in severe MPP cases than in mild MPP cases.

Hirschsprung's disease (HSCR) is a congenital disorder characterized by failure of the neural crest cells to migrate and populate the distal bowel during gestation affecting different lengths of intestine leading to a distal functional obstruction. Surgical treatment is needed to correct HSCR once the diagnosis is confirmed by demonstrating the absence of ganglion cells or aganglionosis of the affected bowel segment. Hirschsprung's disease associated enterocolitis (HAEC) is an inflammatory complication associated with HSCR that can present either in the pre- or postoperative period and associated with increased morbidity and mortality. The pathogenesis of HAEC remains poorly understood, but intestinal dysmotility, dysbiosis and impaired mucosal defense and intestinal barrier function appear to play a significant role. There is no clear definition for HAEC, but the diagnosis is primarily clinical, and treatment is guided based on severity. Here, we aim to provide a comprehensive review of the clinical presentation, etiology, pathophysiology, and current therapeutic options for HAEC.

Hearing loss is considered the most common birth defect. The estimated prevalence of moderate and severe hearing loss in a normal newborn is 0.1%-0.3%, while the prevalence is 2%-4% in newborns admitted to the newborn intensive care unit. Neonatal hearing loss can be congenital (syndromic or non-syndromic) or acquired such as ototoxicity. In addition, the types of hearing loss can be conductive, sensorineural, or mixed. Hearing is vital for the acquisition of language and learning. Therefore, early detection and prompt treatment are of utmost importance in preventing the unwanted sequel of hearing loss. The hearing screening program is mandatory in many nations, especially for high-risk newborns. An automated auditory brainstem response test is used as a screening tool in newborns admitted to the newborn intensive care unit. Moreover, genetic testing and screening for cytomegalovirus in newborns are essential in identifying the cause of hearing loss, particularly, mild and delayed onset types of hearing loss. We aimed to update the knowledge on the various aspects of hearing loss in newborns with regard to the epidemiology, risk factors, causes, screening program, investigations, and different modalities of treatment.

Background: The IFIH1 gene codes the MDA5 protein and the DDX58 gene codes the RIG-I receptor. Both proteins are parts of the interferon (IFN) I signaling pathway and are responsible for antiviral defense and innate immune response. IFIH1 and DDX58 polymorphisms are associated with a spectrum of autoimmune diseases. Rare gain-of-function IFIH1 mutations have been found in Singleton-Merten and Aicardi-Goutières syndrome, while DDX58 mutation can cause atypical Singleton-Merten syndrome.

Aim: To characterize children with pediatric rheumatic diseases (PRD) carrying DDX58 or IFIH1 variants.

Methods: Clinical exome sequencing was performed on 92 children with different PRD. IFIH1 and DDX58 variants have been detected in 14 children. IFN-I score has been analyzed and the clinical characteristics of patients have been studied.

Results: A total of seven patients with systemic lupus erythematosus (SLE) (n = 2), myelodysplastic syndrome with SLE features at the onset of the disease (n = 1), mixed connective tissue disease (MCTD) (n = 1), undifferentiated systemic autoinflammatory disease (uSAID) (n = 3) have 5 different variants of the DDX58 gene. A common non-pathogenic variant p.D580E has been found in five children. A rare variant of uncertain significance (VUS) p.N354S was found in one patient with uSAID, a rare likely non-pathogenic variant p.E37K in one patient with uSAID, and a rare likely pathogenic variant p.Cys864fs in a patient with SLE. Elevated IFN-I score was detected in 6 of 7 patients with DDX58 variants. Seven patients had six different IFIH1 variants. They were presented with uSAID (n = 2), juvenile dermatomyositis (JDM) (n = 1), SLE-like disease (n = 1), Periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome (n = 1), and systemic onset juvenile idiopathic arthritis (n = 1). Three patients have VUS p.E627X, one patient has benign variant p.I923V. Rare VUS p.R595H was detected in the JDM patient. Another rare VUS p.L679Ifs*2 and previously not reported variant p.V599Ffs*5 were detected in the patient with uSAID. One patient with uSAID has rare VUS p.T520A. All patients had elevated IFN-I scores.

Conclusion: Rare compound-heterozygous IFIH1 variant (p.L679Ifs*2 and p.V599Ffs*5), heterozygous IFIH1 variant (p.T520A) and heterozygous DDX58 variant (p.Cys864fs) are probably disease causative for uSAID and SLE. The majority of patients with different DDX58 and IFI1 variants had hyperactivation of the IFN I signaling pathway.

Coronary artery abnormalities are the most important complications in children with Kawasaki disease (KD). Two-dimensional transthoracic echocardiography currently is the standard of care for initial evaluation and follow-up of children with KD. However, it has inherent limitations with regard to evaluation of mid and distal coronary arteries and, left circumflex artery and the poor acoustic window in older children often makes evaluation difficult in this age group. Catheter angiography (CA) is invasive, has high radiation exposure and fails to demonstrate abnormalities beyond lumen. The limitations of echocardiography and CA necessitate the use of an imaging modality that overcomes these problems. In recent years advances in computed tomography technology have enabled explicit evaluation of coronary arteries along their entire course including major branches with optimal and acceptable radiation exposure in children. Computed tomography coronary angiography (CTCA) can be performed during acute as well as convalescent phases of KD. It is likely that CTCA may soon be considered the reference standard imaging modality for evaluation of coronary arteries in children with KD.

Background: Children with thalassemia need care from the first years of life owing to the physical and psychological effects of their disorder. Thalassemia is a concern not only for the children's physical health but also the mental health of themselves and their caregivers.

Aim: To screen the psychosocial problems and assessment of psychiatric morbidities among thalassaemic children and their caretakers, along with an assessment of caregiver burden in them.

Methods: In this observational cross-sectional study, children with transfusion-dependent thalassemia, were included and were assessed for psychiatric morbidity and global functioning. Their parents were assessed for psychiatric morbidity and the caregiver burden they faced. All the parents completed two different questionnaires to assess their knowledge about the psycho-social functioning [using Pediatric Symptom Checklist-35 (PSC-35)] of their children and the level of the burden faced by them by Caregiver Burden Scale (CBS).

Results: A total of 46 children (28 boys and 18 girls) with transfusion-dependent thalassemia with a mean age of 8.83 ± 2.70 years and 46 parents (12 fathers and 34 mothers) were included in this study. More than 32 children had some psychosocial problems on screening by PSC-35. On assessment by CBS moderate caregiver burden was perceived in domains of general strain, isolation, disappointment, emotional involvement, and environment. A total of 65.3% of children and 62.7% of parents were diagnosed with psychiatric problems.

Conclusion: Thalassemia affects not only the persons with the disorder but also their caregivers in several aspects, including their psychosocial well-being. This study emphasizes the role of a supportive group in the psychological well-being of caregivers, which could be used to prevent the pathological effects of caregiver burden and enhance their psychological well-being through counselling.