Pediatric Allergy Immunology and Pulmonology最新文献

Background: Myhre syndrome is a rare connective tissue disorder caused by heterozygous pathogenic variants in the SMAD4 gene. Although recognizing Myhre syndrome in early childhood is challenging, it is important to manage airway stenosis in patients with Myhre syndrome. Case Presentation: We report the case of a 2-month-old boy who initially presented with severe multilevel airway stenosis, dysmorphic face, and multiple abnormalities. Lung fibrosis and mild aortic valve stenosis were additionally observed on follow-up examinations. A heterozygous missense variant, c.1499T>C (p.Ile500Thr), in SMAD4 was identified through exome sequencing. Tracheostomy was performed, and the patient has maintained stable respiration through a customized tracheostomy tube with a home ventilator. Conclusions: Patients who have dysmorphic face, airway stenosis, and cardiovascular anomalies that do not fit the diagnosis of common syndromes should be evaluated for rare diseases, including Myhre syndrome. Since respiratory complications can be life threatening, early diagnosis and suitable intervention are necessary.

Background: We describe a rare case involving paracetamol, a commonly used drug worldwide. Increased paracetamol consumption increases the risk of adverse drug reactions. Case Presentation: This is a case of a 9-year-old girl who visited the emergency department due to sudden onset sneezing, nasal itching, urticaria, and angioedema after paracetamol ingestion. The diagnostic and etiologic studies revealed an immunoglobulin E (IgE)-mediated hypersensitivity mechanism to paracetamol. Conclusion: Few cases of this phenomenon have been reported in previous literature. As confirmed in this study, a negative skin prick test did not exclude hypersensitivity, and conducting intradermal tests (IDTs) increased diagnostic accuracy. The patient had a positive IDT, confirming the underlying IgE-mediated reaction. The follow-up of a confirmed paracetamol hypersensitivity implies patient education about avoidance of any paracetamol-containing formulation, including combination products and clarification of available alternative drugs. This is likely the first publication documenting IgE-mediated paracetamol allergy in pediatric patients. We intend to underline the clinical benefits of diagnostic confirmation toward suspected drug hypersensitivity reactions in children, a particularly useful topic for pediatricians and pediatric allergists.

Background: Peanut introduction guidelines have undergone significant reversal since 2001 from recommending delayed introduction to rescinding the recommendations in 2008 to actively recommending early introduction of peanut between 4 and 11 months of age in high-risk infants in 2015. This qualitative study aims to explore pediatrician beliefs, practices, facilitators, and barriers regarding peanut introduction and testing. Methods: General pediatricians from academic, private, large group, and underserved practices in Northern California underwent individual semi-structured interviews in 2017. We asked about experiences surrounding infant peanut introduction, strategies for staying up-to-date with current recommendations, and barriers and facilitators to the new peanut introduction and testing recommendations. The data were coded, and using grounded theory methodology, a conceptual framework was developed around early peanut introduction and testing in infants. Results: Eighteen general pediatricians participated. We identified barriers that may contribute to pediatrician reluctance to recommending early peanut introduction or testing including lack of awareness, lack of agreement, lack of resources, and lack of outcome expectancy. A framework was created that suggests that pediatricians need to be knowledgeable about new recommendations, agree with the recommendations, have resources to carry out the counseling and testing, and have buy-in from the parents in order for successful uptake of peanut introduction guidelines. Conclusion: Recommending early peanut introduction or testing causes significant apprehension in some pediatricians, and there are many barriers to following recent early peanut introduction recommendations. A potential limitation of the study is that it was conducted right after the addendum guidelines were changed, leaving the possibility that attitudes and practices may have evolved since 2017. It is still likely that a multifaceted approach that addresses primary care provider guideline awareness, limited primary care resources for education and testing, and includes support and collaboration from subspecialty practices is more likely to lead to improved early peanut introduction uptake.

Background: Published data on the correlations of bronchoscopy findings with microbiological, radiological, and pulmonary function test results in children with noncystic fibrosis (CF) bronchiectasis (BE) are unavailable. The aims of this study were to evaluate relationships between Bronchoscopic appearance and secretion scoring, microbiological growth, radiological severity level, and pulmonary function tests in patients with non-CF BE. Methods: Children with non-CF BE were identified and collected over a 6-year period. Their medical charts and radiologic and bronchoscopic notes were retrospectively reviewed. Results: The study population consisted of 54 female and 49 male patients with a mean age of 11.7 ± 3.4 years. In the classification according to the bronchoscopic secretion score, Grade I was found in 2, Grade II in 4, Grade III in 9, Grade IV in 17, Grade V in 25, and Grade VI in 46 patients. When evaluated according to the Bhalla scoring system, 45 patients had mild BE, 37 had moderate BE, and 21 had severe BE. Microbial growth was detected in bronchoalveolar lavage fluid from 50 of the patients. Forced expiratory volume in 1 s (FEV₁) and functional vital capacity decreased with increasing bronchoscopic secretion grade (P = 0.048 and P = 0.04), respectively. The degree of radiological severity increased in parallel with the bronchoscopic secretion score (P = 0.007). However, no relationship was detected between microbiological growth rate and radiological findings (P = 0.403). Conclusions: This study showed that bronchoscopic evaluation and especially scoring of secretions correlate with severe clinical condition, decrease in pulmonary function test, worsening in radiology scores, and increase in microbiological bacterial load in patients. Flexible endoscopic bronchoscopy should be kept in mind in the initial evaluation of non-CF BE patients.

Background: Increased lactate concentrations are directly related to the severity of shock and mortality rates. There are limited data regarding the prognostic value of lactate among lower respiratory tract infections. We aimed to investigate the impact of lactate levels on admission on the clinical outcomes of children with lower respiratory tract infections. Methods: We performed a retrospective study of hospitalized patients aged 1-12 months. We recorded data on patient demographics, clinical, laboratory, treatment, and outcomes. The primary outcome measure was the length of hospital stay, and the secondary outcome was transfer to the pediatric intensive care unit (PICU) and/or mortality rates. Results: A total of 304 infants were included in the study. There were 198 infants with lactate levels of >2 mmol/L. Lactic acidosis was present in 6 infants, with a mean hospital stay of 8 ± 3 days. Only 1 (0.3%) patient required intubation, and 5 (1.6%) were transferred to the PICU. The overall mortality rate was 0%. Lactate levels (≤2 and >2 mmol/L) were not related to the length of hospital stay, transfer to PICU/discharge, and the need for intubation (P = 0.16, 0.8, and 0.46, respectively). The length of hospital stay was not correlated with lactate levels on admission (r = 0.01, P = 0.84), pCO₂ (r = 0.03, P = 0.52), pH (r = 0.07, P = 0.19), C-reactive protein (r = 0.06, P = 0.28), and oxygen saturation (r = -0.02, P = 0.72). Conclusions: Lactate levels on admission did not predict the length of hospital stay in children with lower respiratory infections and were not related to the need for transfer to the intensive care unit. We suggest using lactate levels in combination with clinical, laboratory, and physical examination findings as predictors of disease severity.

Background: Tobacco-smoking in children is one of the most crucial public health concerns, which could be highly prevalent in underprivileged populations. Methods: A cross sectional, random sampling survey was conducted to determine the prevalence of current tobacco-smoking and related risk factors among adolescents living in a low-income area of Santiago de Chile. Results: Of the 2,747 adolescents participating in the study, 24.0% [95% confidence interval (CI) 22.3-25.5] were current smokers, with no significant difference between girls and boys. Factors associated with current smoking were as follows: positive attitude to smoking cigarettes offered by peers [odds ratio (OR) 8.0; 95% CI 5.7-11.3, P < 0.001], having smoking best friends (OR 4.0; 95% CI 2.6-6.0, P < 0.001), and passive smoking in the house (OR 1.9; 95% CI 1.2-3.1, P = 0.008). A total of 16.8% (95% CI 11.4-18.2) of children had smoked an entire cigarette at the age of ≤12, and 62.3% (95% CI, 60.5-64.1) were passive smokers at home. Regarding nonsmoking children, 52.4% (95% CI 49.74-55.06) were exposed to tobacco smoke at home. Conclusion: The prevalence of current tobacco-smoking in adolescents is high and increasing compared to previous studies undertaken in the selected low-resourced area. Two-thirds of children who started smoking before the age of 12 years were current smokers at the time of the survey, highlighting the prevalence of the powerful addiction generated and the need for better preventive strategies against tobacco-smoking for children living in low-resource communities.

Introduction: Hyperimmunoglobulin E syndromes (HIESs) are characterized by a high serum immunoglobulin E (IgE) level, eczematoid rashes, recurrent staphylococcal skin abscesses, and recurrent pneumonia and pneumatocele formation. Autosomal dominant HIES is the most common form of HIES and mainly occurs due to loss-of-function mutations in the Signal Transducer and Activator of Transcription 3 (STAT3) gene (STAT3 LOF). Case Presentation: We report the case of an 11-year-old Peruvian girl diagnosed with STAT3 LOF caused by p.R382W mutation. She presented with recurrent staphylococcal pneumonia and empyema caused by the rarely reported Achromobacter xylosoxidans, which led to severe destruction of the lung parenchyma, multiple lung surgeries, and the development of bronchopleural fistulas. A laparotomy was also performed, which showed evidence of sigmoid colon perforation. The patient received immunoglobulin replacement therapy (IRT) and antibiotic prophylaxis, and the frequency of her infections has decreased over the past 3 years. Conclusion: This is the first case of STAT3 LOF diagnosed by genomic sequencing in Peru. Patients with this mutation have recurrent pulmonary infections, and require multiple surgical procedures with frequent complications. A. xylosoxidans infection could be related to the prolonged stay in intensive care leading to high mortality; therefore, additional care must be taken when treating patients with this infection. In addition, colonic perforation is a rare complication in STAT3 LOF patients. IRT and antibiotic prophylaxis appear to decrease the frequency of infections and hospitalizations.