Search

We report a small case series of childhood-onset Takayasu arteritis (c-TA) presenting as pyoderma gangrenosum (PG)-like vasculitic ulceration. The cutaneous vasculitic ulcers in systemic vasculitis are rare and severe, sometimes leading to delayed diagnosis and treatment. We summarised the clinical features and highlighted the warning signs of c-TA associated with PG-like vasculitic ulceration.

Objectives To characterize the clinical and genotypic features of Cystic fibrosis-associated pseudo-Bartter syndrome (CF-PBS) in Chinese children. Methods We recruited and characterized the clinical manifestations of 12 Chinese children with CF-PBS. Sweat test, blood and urinary analysis, sputum culture, chest and sinus computed tomography, and abdominal ultrasonography were obtained. Whole-exome sequencing, bioinformatics analysis, and sanger sequencing validation were performed to define the genotypes. Results CF-PBS was accompanied by recurrent and/or persistent pneumonia (91.7%), pancreatitis (83.3%), vomiting and/or diarrhea (66.7%), failure to thrive and liver disease (58.3% respectively) among our patients. The predominant organisms found in the airways were Pseudomonas aeruginosa (83.3%) and Staphylococcus aureus (75.0%). The mean concentrations of blood gas and electrolytes were: pH 7.58, bicarbonate 40.8 mmol/L, sodium 125.9 mmol/L, chloride 77.5 mmol/L, and potassium 2.6 mmol/L. A high recurrence rate (50.0%) of CF-PBS was observed despite continued electrolyte supplementation during follow up. 19 different variants of CFTR gene were identified, and 10 of these were found to be novel observations (c.262_266delTTATA[p.L88FfsX21], c.579+2insACAT, c.1210-3C>G, c.1733T>C[p.L578P], c.2236_2246delGAGGCGATACTinsAAAAATC[p.E746KfsX8], c.3068T>G [p.I1023R], c.3635delT[p.V1212AfsX16], c.3859delG[p.G1287EfsX2], c.3964-7A>G and ΔE23 [c.3718-?_3873+?del]). The c.2909G>A[p.G970D] was the most common variant, with an allele frequency of 16.6%. A homozygous genotype of c.1521_1523delCTT[p.F508del] was discovered for the first time in patients of Chinese origin. Conclusions In China, CF-PBS usually presents early and recurs frequently in infancy, accompanied by multiple comorbidities. Recurrence of CF-PBS in school-going patients does occur but is rare. The p.G970D is the most frequent variant, with a significant ethnic tendency of Chinese origin. This article is protected by copyright. All rights reserved.

Background: Since public awareness of cystic fibrosis (CF) has increased, more children have been diagnosed with CF in China. This study aimed to investigate medical and other challenges faced by pediatric CF patients in China.Method: Treatments and treatment outcomes were retrospectively analyzed for 46 pediatric CF patients diagnosed from August 2009 to June 2019.Results: Of 46 pediatric CF study patients, four died (one of pulmonary infection, one of severe respiratory failure, two of unknown causes) and five were lost to follow-up. Thirty-seven patients were monitored for 0.03 to 9.21 years; patients exhibited fewer attacks of respiratory tract infections after diagnosis (4.49 ± 2.13 episodes/year before diagnosis VS 1.97 ± 1.87 times/year after 1-year treatment, p < 0.05), significantly reduced sputum production and experienced 1.62 ± 1.71 exacerbations/year. Patient mean body mass index was 16.87 ± 3.53 and pancreatic malfunction persisted in 15 patients. Of the 28 children older than 6 years of age, 17 received lung function tests during follow-up; no significant differences were observed between lung function at follow-up and at diagnosis (FEV1: 82.45% ± 16.56% vs 75.26% ± 22.34%, FVC: 87.18% ± 13.64% vs 86.99% ± 19.95%, FEF75%: 46.51% ± 28.78% vs 36.63% ± 24.30%, P = 0.27, 0.97, 0.20, respectively). In 27 cases with sputum results at follow-up, Pseudomonas aeruginosa was detected in 17 (62.97%), persisted in 14, newly emerged in 3 and was eliminated in 5 cases. Computed tomography lung scans of 22 cases revealed increased bronchiectasis in 6 cases after 2-60 months of treatment, decreased bronchiectasis in 3 cases after 2-96 months of treatment and unchanged bronchiectasis in 13 cases treated for 5-60 months. Twenty-four patients complied with aerosolized therapy, azithromycin, pancreatic enzymes and nutritional intake-based treatments, while 9 patients once stopped aerosolized therapy or azithromycin and 4 patients stopped all medications. Overall, azithromycin and tobramycin treatments were administered for 0.5-62 months and 0.5-48 months, respectively, and triggered no obvious adverse reactions. Conclusion: No obvious deterioration of clinical presentation or lung function were found in Chinese pediatric CF patients after receiving standard therapeutic and active treatments, although malnutrition and low compliance were persistent challenges.

Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). Here we summarize, at the basic descriptive level, clinical and genetic characteristics of cystic fibrosis gene mutations, while emphasizing differences between CF mutations found in Chinese pediatric CF patients compared to those found in Caucasian CF patients. In addition, we describe animal models used to study human cystic fibrosis disease and highlight unique features of each model that mimic specific human CF‐associated signs and symptoms. At the clinical level, we summarize CF clinical manifestations and diagnostic, treatment, and prognostic methods to provide clinicians with information toward reducing CF misdiagnosis and missed diagnosis rates., Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). We summarize clinical and genetic characteristics of cystic fibrosis gene mutations, as well as animal models used to study human cystic fibrosis disease.

Background Mediastinal teratoma is uncommon in children. It can be very difficult to diagnose especially in early stage. Rarely, teratoma may rupture into adjacent structures and lead to lung lesions or pleuritis. The main rarity of our reported cases was the dynamic imaging findings very similar to the developmental process of tuberculosis in patients 1 and 2, the pachypleuritis in patients 2 and 3, the extremely elevated inflammatory markers very similar to empyema in patient 3, and the extremely atypical tumor shape in all patients. Case presentation We present three pediatric patients presenting predominantly with recurrent hemoptysis and/or chest pain who were ultimately diagnosed with mediastinal teratoma containing pancreatic tissue. All three patients were initially suspected to have tuberculosis or empyema, and underwent relevant treatment, but without improvement. Patient 1 had left hilar enlargement, and subsequently an enlarging calcified cavity within high-density consolidation was identified. Patient 2 initially presented with right-sided pulmonary consolidation and pleuritis, and subsequently developed right lower lobe calcification, pleural thickening, and irregular soft tissue in the right inferior mediastinum. Patient 3 was initially found to have right lobe consolidation accompanied by a massive right-sided pleural effusion with extremely elevated inflammatory markers in serum and pleural effusion. The effusion later acquired heterogeneous density and appeared to become encapsulated. In patients 2 and 3, pleural biopsy identified fibrous tissue (with and without granuloma). Thoracotomy/thoracoscopy revealed mediastinal teratoma in each case, all of which were completely excised and the patients made uneventful recoveries. Histopathologic analysis revealed mature cystic-solid teratoma containing pancreatic tissue in all patients, and calcification in patients 1 and 2. Conclusions Clinicians should be mindful that mediastinal teratoma is a potential cause of hemoptysis, lung lesions and pleuritis. Calcification and pachypleuritis on chest imaging especially in patients without fever should be highly suspected of mediastinal teratoma. Pleural biopsy sometimes fails to assist in making a definitive diagnosis.

Background Bronchopulmonary disease caused by flagellated protozoa infection (BPFP) is thought to be rare in children but may be an emerging or underestimated disease, especially in developing countries. Methods In this study, we retrospectively reviewed records of 15 patients who were presented with a cough, wheezing or bronchopulmonary disease of unknown causes during admission, and patients who were finally diagnosed with BPFP from January 2014 to January 2015 were enrolled. Protozoa were observed in bronchoalveolar lavage fluid by light microscopy. Results A total of 15 pediatric cases (11 male and 4 female individuals, from 1 year 8 months to 12 years 1 month of age) with flagellated protozoa infection diagnosed by light microscopy were recruited. The course of the disease at the time of diagnosis was from 10 days to 11 months. Patients presented with a fever (N = 9), cough (N = 11), wheezing (N = 5) and chest pain (N = 5). Laboratory data showed elevated peripheral blood leucocytes (N = 6), eosinophilic granulocytes (N = 3), C-reactive protein (N = 5) and immunoglobulin E (N = 3). Bronchoscopy revealed a mucus plug (N = 3) and bronchiectasis (N = 1). Lung computed tomography results indicated ground-glass opacification (N = 2), atelectasis (N = 3), bronchiectasis (N = 1), bronchial wall thickening (N = 3) or nodular opacity (N = 6, including 1 case of pulmonary embolism). All children responded to metronidazole for a 2- to 5-week treatment period. Conclusions Patients with BPFP often have a chronic or recurrent course and present with recurrent fever, cough, wheezing and chest pain. Chest imaging may reveal ground-glass opacification, atelectasis, bronchiectasis or nodular opacity (including pulmonary embolism). BPFP responds favorably to metronidazole treatment.

Background A number of previous works have shown that leukotriene (LT) concentration emerged disease severity-dependent increases in both exhaled breath condensate and urine of sleep-disordered breathing (SDB) patients. However, few studies have investigated how circulating level of LTs contributes to systemic inflammation of SDB, and the relationship between LT production, leukocyte count and high sensitivity C-reactive protein (hsCRP) level in SDB disease remains controversial. Methods Prospective, observational study that included standard questionnaires, physical examinations and polysomnography. Serum leukotriene B 4 (LTB 4 ) and cysteinyl leukotrienes (cysLTs) were determined by means of enzyme-linked immunosorbent assays. Results A total of 166 children with SDB and 45 control subjects were recruited. SDB children had increased serum levels for both LTB 4 and cysLTs as well as neutrophil (Neu) count and hsCRP than the control group, and all the inflammatory parameters emerged disease severity-dependent increases. LT production correlated significantly with Neu count and hsCRP level. In the regression model, both apnea–hypopnea index and body mass index z-score were significant predictors of LTB 4 and cysLTs ( p Conclusions The activated systemic inflammatory response as reflected by serum elevations of LTs, Neu counts and hsCRP is present in children with SDB, and the magnitude of inflammation emerged disease severity-dependent. The level of LTs is significantly associated with circulating Neu counts and hsCRP values in SDB.

Sleep disordered breathing (SDB) has been associated with increased inflammatory responses. Changes in the level of pro-inflammatory leukotrienes (LTs) may initiate or exacerbate pediatric SDB and may play a major role in end-organ morbidity. The objective of the study was to investigate the relationship of LT productions with severity of SDB, obesity, and adenotonsillar hypertrophy in children.Prospective, observational study that included standard questionnaires, physical examinations, overnight polysomnography (PSG), and urinary leukotriene E(4) (LTE(4)) assay.Sleep Center and Laboratory of Nutriology.282 children with SDB and 94 healthy control subjects were recruited.Urinary LTE(4) levels were elevated in children with SDB compared to the controls, and LTE(4) productions emerged disease severity- and obesity-dependent increases. In stepwise multiple regression analysis, the independent predictors of the apnea-hypopnea index (AHI) included LTE(4) level and adenotonsillar-size sum score (P0.001 respectively; adjusted R(2)=0.318). A positive relationship between LTE(4) urinary level and adenotonsillar-size sum scores was present in the underweight/normal weight SDB subjects (r=0.276; P0.001), but not in the overweight/obese children (P0.05).Systemic inflammation mediated by LTs participates in the pathophysiological mechanisms of SDB in children. The magnitude of inflammation as reflected by urinary LTE(4) is significantly related to the severity of SDB and obesity. However, a correlation between LTE(4) concentration and adenotonsillar size is present only among nonobese children.

Objectives To characterize the clinical phenotypes and genotypic spectrum of cystic fibrosis (CF) in Chinese children. Study design We recruited and characterized the phenotypes of 21 Chinese children with CF. All 27 exons and their flanking sequences of the CF transmembrane conductance regulator gene were amplified and sequenced to define the genotypes. Results Bronchiectasis (95.2%) and sinusitis (76.2%) were the most common clinical presentations among our patients. By contrast, pancreatic insufficiency was rare (14.3%). The predominant organism found in the airways was Pseudomonas aeruginosa (66.7%). There were obvious reductions of forced expiratory volume in the first second (mean ± SD: 71.8% ± 17.2% predicted) and forced expiratory flows at 75% of exhaled vital capacity (33.7% ± 20.4% predicted) in children with CF. Overall, we identified 22 different mutations, including 12 missense, 5 nonsense, 2 frameshift, 1 in-frame insertion, 1 splice site, and 1 3′untranslated region mutation. Of these, 7 were novel observations (W216X[780G→A], 1092insA, Q359X, D567Y, 2623-126T→C, 3439delA and 4575+110C→G), and the most common types were L88X and I556V. One de novo mutation (1092insA) was also revealed. Except for N1303K and R334W, none of them were present in the common Caucasian CF transmembrane conductance regulator mutation-screening panels. Conclusions There was a 5.7-year delay between the first clinical presentation and the eventual CF diagnosis, suggesting that CF may be underdiagnosed in China. The clinical phenotypes and genotypic spectrum are different from that observed in Caucasians.

This report entails a case of refractory pneumonia with a wild variety of extra-pulmonary manifestations due to macrolide-resistant Mycoplasma pneumoniae infection in a 7-year-old boy. The diagnosis was based on isolating M. pneumoniae through cultivation from the patient's bronchial aspirations at admission and the following susceptibility testing. Initial treatments consisting of a combination of azithromycin and standard-dosed methylprednisone (2 mg/kg) were completely nonresponsive and the patient's condition deteriorated rapidly. However, methylprednisone pulse therapy (20 mg/kg for 3 days, tapering within 1 month) and intravenous immunoglobulin (1 g/kg/day, two doses), in addition to moxifloxacin (10 mg/kg for 7 days) were remarkably effective and led to a favorable outcome without any observed side effects during inpatient hospitalization and outpatient follow-up.

Background Evidence suggests that increased leukotriene level and receptor protein expression emerged in the adenotonsillar tissue of children with sleep-disordered breathing (SDB). Nevertheless, few studies have investigated the contribution of disease severity in the cysteinyl leukotriene (CysLT) production and cysteinyl leukotriene receptor (CysLTR) expression. Furthermore, the relationship between local upper-airway and systemic inflammatory responses remains undefined. Methods A prospective, observational study that included standard questionnaires, physical examinations and overnight polysomnography. CysLTs were determined from serum, urine and tonsillar homogenate supernatant by means of enzyme-linked immunosorbent assays. The protein expressions of CysLTR were measured using Western blot analysis. Results Children with SDB had increased intratonsillar CysLT levels as well as CysLT subtype 1 receptor (CysLT1-R) and CysLT subtype 2 receptor (CysLT2-R) protein expression than the control group. CysLT concentration was positively correlated with body mass index z-score and apnea–hypopnea index (r = 0.454 and 0.487, p