A 14-Year-Old Girl with Shortness of Breath and Chest Pain.

A 14-Year-Old Girl with Dyspnea and Chest PainA 14-year-old girl presented for evaluation of shortness of breath and chest pain after recent travel to the Caribbean. How do you approach the evaluation, and what is the diagnosis?

Clinical Management of Children with Oropharyngeal Aspiration - Physician Survey.

Introduction: Pulmonary aspiration in infants and children is common, with 25% of the pediatric population reported to experience some type of nonspecific swallowing dysfunction. Diagnosing and managing oropharyngeal aspiration remain a challenging task due to the lack of distinguishing clinical or laboratory characteristics. We conducted a large, physician-based survey in an effort to determine the differences in the diagnosis and management of patients with oropharyngeal aspiration across different centers, using a quantitative online questionnaire. Methods: A survey was developed with the goal of understanding the physician demographics, diagnosis, management strategies, and the role of specialized centers for airway, voice, and swallowing disorders (also known as Aerodigestive Disease Centers). The questionnaire was sent to the pediatric membership of the American Thoracic Society. Results: A total of 136 questionnaires were completed and physicians from 42 different Aerodigestive Digestive Centers participated in the survey. Ninety-two percent of respondents believed that the evidence is unclear on the best methods for diagnosing lung disease related to oropharyngeal aspiration. Modified barium swallow (MBS) study and fiberoptic endoscopic evaluation of swallowing were the most useful studies in making the diagnosis of the oropharyngeal aspiration according to the participants. The majority of the participants preferred to repeat the feeding evaluations and MBS after the initial intervention. For children with suspected or confirmed aspiration, 68.6% of the respondents stated that they combine endoscopy and flexible and/or rigid bronchoscopy for further evaluation, while 27.1% preferred to perform the procedures individually at the discretion of each specialty provider. Inhaled corticosteroids were mostly prescribed if there was any component of bronchial hyperreactivity, and acid suppression therapy was primarily prescribed if there was a diagnosis or suspicion of gastroesophageal reflux disease. Empirical thickening of the feeds was not uniformly performed among the aerodigestive centers as a therapy method for the children with swallowing dysfunction with aspiration. Conclusion: In the survey, physicians mentioned about the importance of better guidelines for aspiration, the requirement of new diagnostic measures, the necessity of multicenter trials of sensitivity and specificity of current diagnostic tools, and developing a scoring system for reading the radiological studies for children with oropharyngeal aspiration.

Similarity of chest X-ray and thermal imaging of focal pneumonia: a randomised proof of concept study at a large urban teaching hospital.

OBJECTIVE: To assess the diagnostic accuracy of thermal imaging (TI) in the setting of focal consolidative pneumonia with chest X-ray (CXR) as the gold standard. SETTING: A large, 973-bed teaching hospital in Boston, Massachusetts. PARTICIPANTS: 47 patients enrolled, 15 in a training set, 32 in a test set. Age range 10 months to 82 years (median=50 years). MATERIALS AND METHODS: Subjects received CXR with subsequent TI within 4 hours of each other. CXR and TI were assessed in blinded random order. Presence of focal opacity (pneumonia) on CXR, the outcome parameter, was recorded. For TI, presence of area(s) of increased heat (pneumonia) was recorded. Fisher's exact test was used to assess the significance of the correlations of positive findings in the same anatomical region. RESULTS: With TI compared with the CXR (the outcome parameter), sensitivity was 80.0% (95% CIs 29.9% to 98.9%), specificity was 57.7% (95% CI 37.2% to 76.0%). Positive predictive value of TI was 26.7% (95% CI 8.9% to55.2%) and its negative predictive value was 93.8% (95% CI 67.7% to 99.7%). CONCLUSIONS: This feasibility study confirms proof of concept that chest TI is consistent with CXR in suggesting similarly localised focal pneumonia with high sensitivity and negative predictive value. Further investigation of TI as a point-of-care imaging modality is warranted.

Primary Ciliary Dyskinesia: An Update on New Diagnostic Modalities and Review of the Literature.

Primary ciliary dyskinesia (PCD) is a genetic condition affecting approximately 1 in 15,000-20,000 individuals, and the majority of cases exhibit an autosomal recessive inheritance pattern. However, genetic heterogenicity is seen in PCD and reflects the complexity of ciliary structure and biogenesis. There have been many recent advances in the diagnosis and management of PCD in the last few years, including advanced genetic sequencing, nasal nitric oxide assay, and ciliary motility tests. This article focuses on the ultrastructure and pathophysiology of ciliary dyskinesias, along with a review of clinical features, screening, and diagnostic tests. It also reflects upon the diagnostic challenge caused by the diverse clinical presentation, which will be of great value to pediatricians for considering PCD in their differential list, henceforth leading to early recognition and management, along with awareness of the recent advances in the field of genetics and other techniques for diagnosis of this condition.

The utility of endoscopy and multichannel intraluminal impedance testing in children with cough and wheezing.

BACKGROUND: Gastroesophageal reflux (GER) has been implicated as a causal factor in respiratory disease but prior studies have focused on the role of acid alone in the genesis of symptoms. Prior studies have relied on pH probe testing but this is blind to non-acid reflux which has been implicated in the genesis of extraesophageal symptoms. The objective of this prospective, cross-sectional study is to determine the utility of gastroesophageal reflux testing, including multichannel intraluminal impedance with pH (pH-MII) and upper gastrointestinal endoscopy (EGD), in the child with intractable cough and wheezing. We hypothesize that there is a high rate of pathologic reflux testing in these patients. METHODS: Children ages 1-18 with chronic cough and wheezing who were undergoing bronchoscopy for the evaluation of cough and wheezing were recruited into this prospective, cross-sectional study. They underwent identical reflux testing with pH-MII and EGD at the time of bronchoscopy. Reflux burden, symptom association, and rates of esophageal pathology were determined. Results 58% of patients had abnormal reflux testing; 67% of patients had an abnormal pH-MII test and 32% of patients had abnormal esophageal biopsies. The most common pH-MII abnormality was an abnormal symptom association between cough and reflux and the most common endoscopic abnormality was reflux esophagitis. Seven percent of patients presenting only with cough were diagnosed with eosinophilic esophagitis. CONCLUSIONS: There is a high yield to reflux testing in children with chronic cough and wheezing.

Chest radiographic and CT evaluation of lung abnormalities in pediatric patients with laryngeal cleft.

BACKGROUND: The purpose of this study was to (1) evaluate chest radiography (CR) and computed tomography (CT) findings in pediatric patients with laryngoscopically confirmed laryngeal cleft and (2) determine whether CT provided additional information over CR in evaluating lung abnormalities in pediatric patients with laryngeal cleft. METHODS: Two pediatric radiologists performed a retrospective review of CRs and CTs in pediatric patients with laryngoscopically confirmed laryngeal cleft from January, 2002 to January, 2010. Lungs were evaluated for pattern (airspace or interstitial), distribution (upper, middle, or lower lung zones), and extent (<25% or >25%) of abnormalities on CRs and CTs. In patients who had both CR and CT, CT findings were compared with concurrent CRs to determine whether CT provided additional information and resulted in alterations in patient management. RESULTS: The final study cohort consisted of 67 pediatric patients (37 males and 30 females; mean age 3.0 years ± 3.5 years; range 25 days to 17.5 years) who had CR. Sixteen (24%) of these 67 patients had both CR and CT. Chest radiographs were abnormal in 47 patients (70%) which included consolidation (n = 35; 74%) and reticular opacities in 12 patients (26%). Lung parenchymal abnormalities were observed in the upper (n = 10; 21%), middle (n = 2; 4%), or lower (n = 35; 75%) lung zones on CR. The extent of lung parenchymal abnormalities was >25% in 30 patients (64%) and <25% in 17 patients (36%). Chest CT examinations were abnormal in all 16 patients (100%) who had available chest CT examinations, which included consolidation (n = 9; 56%) and reticular opacities (n = 7; 44%). Lung parenchymal abnormalities were observed in the upper (n = 2; 12.5%) or lower (n = 14; 87.5%) lung zones on CT. The extent of lung abnormalities was >25% in 10 patients (60%) and <25% in six patients (40%). CT provided major additional findings in 12 patients (75%) and minor findings in four patients (25%). Additionally, CT improved the evaluation of the distribution and extent of lung abnormalities in 11 patients (69%). The additional information provided by CT resulted in alteration of patient management in seven patients (43.8%). CONCLUSIONS: Among pediatric patients with laryngeal cleft, CR and CT often show lung abnormalities such as consolidation and reticular opacities. CT frequently provides additional information, which may change patient management.

Utilization of lipid-laden macrophage index in evaluation of aerodigestive disorders.

OBJECTIVES/HYPOTHESIS: The utility of the lipid-laden macrophage index (LLMI) in the evaluation of airway inflammatory processes remains controversial. There is a paucity of normative data in both pediatric and adult populations, and there is wide variability in the reported cases. The goal of this project was to review the LLMI levels in a large series of patients with a wide range of well-documented pulmonary and airway diseases (cystic fibrosis, aspiration, tracheo/bronchomalacia, recurrent pneumonia, asthma, immunosuppressed conditions, and laryngeal clefts) to develop a better understanding of the clinical utility of the LLMI. STUDY DESIGN: This study is a retrospective analysis of patients who underwent initial bronchoscopy with broncheoalveolar lavage (BAL) and had specimens sent for determination of LLMI. This study was performed at a major pediatric tertiary care medical center from April 12, 2006 to July 13, 2009. METHODS: Medical charts were reviewed for major diagnoses, indications for bronchoscopy, the side of lung (right versus left), documented aspiration, suspected aspiration, neutrophil counts, and patient age. These qualitative and quantitative variables were considered in relation to the LLMI. RESULTS: The cohort of patients examined were 4.9 ± 4.3 years (4 days to 18 years of age). Forty-two percent were female and 58% were male. The highest median LLMI was in immunocompromised patients with a median of 78. Recurrent pneumonia, aspiration, tracheo/bronchomalacia, and cystic fibrosis had median LLMI levels of 55, 49, 40, and 50, respectively. There was a wide range of LLMI within each primary diagnosis. There was no significant correlation between neutrophils percentage in the BAL and LLMI. There were no significant differences between BAL specimens obtained from the right or left side. CONCLUSIONS: To our knowledge, this is the largest series of patients reported in the literature to have an LLMI compared with underlying diagnoses. Based on our data and analyses, there is wide variability between the range of LLMI and the primary diagnosis. As such, the diagnostic utility of the LLMI is limited and should be interpreted with caution.

Validation of a pediatric cough questionnaire.

We conducted a study to determine if a five-item pediatric cough questionnaire (PCQ) is a valid and reliable means of measuring cough-specific quality of life in children. The five questions, which are answered by the child's parent or caregiver, cover cough frequency (Q1), sleep disturbance of the child (Q2), sleep disturbance of the parent (Q3), cough severity (Q4), and the degree of bothersomeness to the child (Q5). Each of the five items was scored on a 6-point Likert scale. The PCQ was administered three times. The first occurred when the parent telephoned to schedule an appointment for the child at a pediatric pulmonology outpatient clinic for a chief complaint of cough. The second PCQ was administered within 2 weeks of the first but before any treatment had been instituted so that test-retest reliability could be assessed. Each child was then diagnosed and treated in accordance with standard care practices. The third PCQ was administered 3 weeks after the second to determine if it would accurately reflect the parent's perception of how the child's cough had changed following treatment. Also, at the second and third encounters, parents were asked to provide their global assessment of whether their child's cough had improved, worsened, or stayed the same since the previous encounter. The parents of 120 children (70 boys and 50 girls; mean age: 6.8 yr) completed all three PCQs. Test-retest reliability was established (p < 0.001) for each of the five PCQ questions by Spearman correlation analysis (Q1: r = 0.5; Q2: r = 0.38; Q3: r = 0.42; Q4: r = 0.53; Q5: r = 0.5). Other statistical analyses confirmed the PCQ's internal consistency, discriminant validity, and convergent validity. Based on our findings, we conclude that the PCQ is a valid and reliable instrument with which to follow children with chronic cough longitudinally.

Wheeze detection in the pediatric intensive care unit: comparison among physician, nurses, respiratory therapists, and a computerized respiratory sound monitor.

OBJECTIVE: To correlate wheeze detection in the pediatric intensive care unit among staff members (a physician, nurses, and respiratory therapists [RTs]) and digital recordings from a computerized respiratory sound monitor (PulmoTrack). METHODS: We prospectively studied 11 patients in the pediatric intensive care unit. A physician, nurses, and RTs auscultated the patients and recorded their opinions about the presence of wheeze at baseline and then every hour for 6 hours. The clinician auscultated while the PulmoTrack recorded the lung sounds. The data were analyzed by a technician trained in interpretation of acoustic data and by a panel of experts blinded to the source of the recorded data, who scored all tracks for the presence or absence of wheeze. The degree of correlation among the expert panel, the staff, and the PulmoTrack was evaluated with the Kappa coefficient and McNemar's test. The determinations of the expert panel were taken as the true state (accepted standard). RESULTS: The PulmoTrack and expert panel were in agreement on detection of wheeze during inspiration, expiration, and the whole breath cycle; in all cases the Kappa coefficients were 0.54, 0.42, and 0.50 respectively. The PulmoTrack was significantly more sensitive than the physician (P = .002), nurses (P < .001), or RTs (P = .001). However, the specificity of the PulmoTrack was not significantly different from that of the physician, nurses, or RTs. CONCLUSIONS: Between the physician, RTs, and nurses there was agreement about the presence of wheeze in critically ill patients in the pediatric intensive care unit. Compared to the objective acoustic measurements from the PulmoTrack, the intensive care unit staff was similar in their ability to detect the absence of wheeze. The PulmoTrack was better than the staff in detecting wheeze.

Type 1 laryngeal cleft: establishing a functional diagnostic and management algorithm.

OBJECTIVES: To report our experience with all patients diagnosed with type 1 laryngeal cleft over a period of 3 years in our referral practice and to describe a functional diagnostic and management algorithm for children with this disorder. METHODS: A prospective longitudinal study in a tertiary care referral center. Twenty pediatric patients diagnosed with type 1 laryngeal cleft in a 3-year period (5/1/2002-5/1/2005) were included in this study. The incidence, presenting symptoms, diagnostic procedures, medical and surgical interventions performed, and clinical outcomes were evaluated. RESULTS: The incidence of type 1 laryngeal cleft was 7.6%. Among the 20 patients in this study, aspiration with thin liquids was the most common presenting symptom (18 patients, 90%). Three patients underwent modified barium swallow (MBS) alone, 3 patients underwent functional endoscopic evaluation of swallow (FEES) alone, and 11 patients underwent both MBS and FEES prior to intraoperative endoscopic evaluation. Four patients (20%) were successfully treated with conservative therapy. Sixteen patients (80%) required endoscopic surgical repair after failing a course of conservative measures. The success rate of surgical repair was 94% (15 out of 16 patients). CONCLUSIONS: Type 1 laryngeal cleft can be challenging diagnostically. We propose a functional diagnostic and management algorithm that includes MBS, FEES, suspension laryngoscopy with bimanual interarytenoid palpation, and a trial of conservative therapy, as a way to diagnose and manage type 1 laryngeal cleft prior to consideration of surgical repair. If conservative therapy fails, then surgical intervention is indicated.

Challenges in implementing a successful newborn cystic fibrosis screening program.

OBJECTIVE: To identify necessary components of a successful cystic fibrosis (CF) newborn screening (NBS) program. STUDY DESIGN: The approach to CF NBS used by the Massachusetts NBS program was examined. RESULTS: Several key components were identified that should be addressed when a state has made the decision to screen, and well in advance of actual implementation. These components include (1) inclusion of CF center directors in the development process; (2) logistics of choosing a screening algorithm relative to practices in place and community wishes; (3) projections of medical service needs from specific algorithms; (4) identification of critical reporting components; (5) identification of critical follow-up components; and (6) recognition of educational needs. CONCLUSIONS: Careful examination of a wide variety of issues is needed to ensure optimal implementation of NBS for CF.

Communications systems and their models: Massachusetts parent compliance with recommended specialty care after positive cystic fibrosis newborn screening result.

OBJECTIVE: To evaluate compliance with recommendations for sweat testing/specialty evaluation and genetic counseling after a positive cystic fibrosis newborn screening (CF NBS) result. STUDY DESIGN: All infants with positive CF NBS results require a diagnostic sweat test at a CF center. Results that were "screen positive and diagnosis negative" prompted family genetic counseling. Parent compliance with follow-up protocol recommendations was retrospectively analyzed relative to the communications model in place at a particular CF Center. RESULTS: At each of the 5 MA CF centers, 95% of the CF NBS-positive infants completed recommended sweat testing. In contrast, there was wide disparity in compliance (32%-90%) with completion of genetic counseling between CF centers. CONCLUSION: CF centers that escorted parents through the 2 recommended follow-up steps in 1 day had higher compliance with the second step (genetic counseling) than centers that required a return visit for genetic counseling.

Benefit plan design and prescription drug utilization among asthmatics: do patient copayments matter?

The ratio of controller-to-reliever medication use has been proposed as a measure of treatment quality for asthma patients. In this study we examine the effects of plan-level mean out-of-pocket asthma medication patient copayments and other features of benefit plan design on the use of controller medications alone, controller and reliever medications (combination therapy), and reliever medications alone. The 1995--2000 MarketScan claims data were used to construct plan-level out-of-pocket copayment and physician/practice prescriber preference variables for asthma medications. Separate multinomial logit models were estimated for patients in fee-for-service (FFS) and non-FFS plans relating benefit plan design features, physician/practice prescribing preferences, patient demographics, patient comorbidities, and county-level income variables to patient-level asthma treatment patterns. We find that the controller-to-reliever ratio rose steadily over 1995--2000, along with out-of-pocket payments for asthma medications, which rose more for controllers than for relievers. After controlling for other variables, however, plan-level mean out-of-pocket copayments were not found to have a statistically significant influence on patient-level asthma treatment patterns. On the other hand, physician/practice prescribing patterns strongly influenced patient-level treatment patterns. There is no strong statistical evidence that higher levels of out-of-pocket copayments for prescription drugs influence asthma treatment patterns. However, physician/practice prescribing preferences influence patient treatment.

Cystic fibrosis on the Internet: a survey of site adherence to AMA guidelines.

OBJECTIVES: The Internet permits unprecedented and mostly unrestricted access to medical knowledge; however, concerns exist regarding viewer privacy, accountability of authorship, accuracy of information, and patient safety. To address these issues, the American Medical Association (AMA) has developed guidelines concerning web site content and visitor rights. Cystic fibrosis (CF) is the most common genetically inherited lethal disease in North America. Many Internet sites that provide information on CF have been developed, although adherence to validated guidelines for online health information is not required. The purpose of this study was to assess systematically web sites with content pertaining to CF for adherence to the published AMA guidelines. METHODS: The search term "cystic fibrosis" was entered into a commonly used search engine (Google), and the first 100 eligible sites were reviewed. Each site was examined for adherence to the AMA Guidelines for Medical and Health Information Sites on the Internet using a series of adapted questions. There were 15 questions divided into the following main categories: 1) site structure and viewer privacy, 2) author accountability, 3) scientific citation, and 4) patient safety. The number of positives for each question was tabulated. RESULTS: With respect to site structure, fewer than half (45%) of the reviewed sites indicated a date of last revision. Only 11 (11%) carried an explicit privacy policy. A responsible author or group was listed in only 43 (43%) of 100 sites. Presented data regarding CF was supported by references, sources, or expert review in only 38 (38%) of 100 sites. A medical disclaimer noting that information provided does not substitute for evaluation by a health care team was evident in only 37 (37%) sites. CONCLUSIONS: The majority of easily accessible CF informational web sites do not adhere to guidelines published by the AMA. Patients and families who use the Internet as a CF information resource should examine the web sites carefully and be familiar with the guidelines established by the AMA. Personal information is not protected, and few sites provide explicit privacy guarantees. Finally, CF care teams should inquire about Internet use by patients and families and be prepared to discuss findings from the Internet to heighten patient safety and awareness.