Primary ciliary dyskinesia in Amish communities.

Primary ciliary dyskinesia is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, on the basis of clinical characteristics and ciliary ultrastructural defects. Despite consanguinity, affected individuals had evidence of genetic heterogeneity.

Intracranial complications of pediatric frontal rhinosinusitis.

BACKGROUND: The aim of this study was to review the presentation and management of children admitted for intracranial complications arising from frontal rhinosinusitis. We performed a retrospective case series review at two academic tertiary care children's hospitals. METHODS: This study consisted of children < 18 years old who presented with intracranial complications from frontal rhinosinusitis between January 1, 1990 and December 31, 2002. Relevant literature was reviewed with the assistance of Medline. Presentation, type of intracranial complication, radiographic evaluations, response to treatment, and prognosis were evaluated. RESULTS: Sixteen patients were identified with intracranial complications due to frontal rhinosinusitis. Patients were usually older (mean age, 14 years and 3 months), of male gender (M/F, 4.3:1.0), and African American (AA/W, 3.0:1.0). Headache, nasal congestion, and visual changes were the most common early symptoms and neurological findings indicated advanced disease. Subdural (56%), epidural (44%), and cerebral abscesses (19%) were the most common complications. Meningitis alone was identified in 13% and was associated with another intracranial complication in 6%. Multiple intracranial complications were noted in 31%. Polymicrobial cultures were obtained in 50% of patients. Although CT was excellent in identifying orbital pathology, MRI was superior for characterization of intracranial disease. CONCLUSION: Intracranial complications of frontal rhinosinusitis are rare in children. Early symptoms often are nonspecific, with neurological findings more commonly seen in advanced disease. Adolescent African American male patients were found to be at highest risk for intracranial complications from frontal rhinosinusitis. Headache and orbital complaints associated with rhinosinusitis in older children failing to respond to initial therapy should prompt an aggressive evaluation including MRI.

Desmoplastic fibroma of the mandible in an infant.

We report the CT and MR imaging findings of a case of a desmoplastic fibroma of the mandible in a 6-month-old girl who presented with a rapidly enlarging facial mass and who represents one of the youngest reported children with this rare tumor. Although imaging is non-specific and these lesions are best distinguished histologically, the desmoplastic fibroma should be considered when there is an occurrence of any bubbly or cystic expansile mandibular lesion presenting in childhood.

Simultaneous intracranial and orbital complications of acute rhinosinusitis in children.

OBJECTIVE: To evaluate the frequency of intracranial and orbital complications occurring as simultaneous but separate complications of acute rhinosinusitis in the pediatric population. METHODS: Records of children admitted to St. Louis Children's Hospital between 1 January 1990 and 31 December 2002 were reviewed. Relevant literature was reviewed with the assistance of Medline. RESULTS: We identified 74 patients with orbital complications related to acute rhinosinusitis. A bimodal age distribution was identified with one group above and one group below the age of 7 years. The frequency of intracranial complications in pediatric patients already admitted for orbital complications of acute rhinosinusitis was 0% for those less than 7 years of age and 9.3% (4/43) for patients 7 years and older. If surgery was required for orbital disease, these risks were 0 and 24% (4/17), respectively. The review found that patients with dual complications had a mean age of 15 years, 11 months, were male (100%), had subperiosteal abscesses located superiorly or superolaterally within the orbit, and presented with significant frontal sinus disease. All intraoperative cultures were polymicrobial. MRI was superior to CT for identification of intracranial extension. CONCLUSIONS: Simultaneous intracranial and orbital complications are rare but significant occurrences in acute pediatric rhinosinusitis. Because of the high incidence of intracranial findings, we recommend MRI in addition to CT scan along with aggressive management in children older than 7 years of age admitted with orbital complications of acute rhinosinusitis who also demonstrate risk factors for intracranial disease. These risk factors are discussed.

Tutorials in clinical research: VII. Understanding comparative statistics (contrast)--part B: application of T-test, Mann-Whitney U, and chi-square.

OBJECTIVE: This tutorial on comparative statistics has been written in two complementary segments. The first paper (part A) focused on explaining the general concepts of the null hypothesis and statistical significance. This second article (part B) addresses the application of three specific statistical tests. These two articles should be read sequentially and the first article should be available for reference while one reads the second. STUDY DESIGN: Tutorial. METHODS: The authors met weekly for 10 months to discuss clinical research articles and the applied statistics. The difficulty was not the material but the effort to make it easy to read and as short as possible. RESULTS: The article discusses the application of three common statistical indexes of contrast, chi2, Mann-Whitney U, and Student t-test and other concepts, such as sample size, degrees of freedom, errors, power, and confidence intervals. CONCLUSIONS: Statistical tests generate a number known as a statistic (chi2, U, t), which is sometimes called a "critical ratio" because it helps us to make a decision. This number is then associated with a probability, or P value. Sample size is a crucial element in the initial design of a research project and in the subsequent ability of the results to show statistical significance if the difference is clinically important. The example data used in this paper demonstrate the application of the three specific tests and illustrate the effect of sample size on the results.

Tutorials in clinical research: part VII. Understanding comparative statistics (contrast)--part A: general concepts of statistical significance.

OBJECTIVES/HYPOTHESIS: The present tutorial is the seventh in a series of Tutorials in Clinical Research. The specific purpose of the tutorial (Part A) and its sequel (Part B) is to introduce and explain three commonly used statistical tools for assessing contrast in the comparison between two groups. STUDY DESIGN: Tutorial. METHODS: The authors met weekly for 10 months discussing clinical research studies and the applied statistics. The difficulty was not in the material but in the effort to make the report easy to read and as short as possible. RESULTS: The tutorial is organized into two parts. Part A, which is the present report, focuses on the fundamental concepts of the null hypothesis and comparative statistical significance. The sequel, Part B, discusses the application of three common statistical indexes of contrast, the chi2, Mann-Whitney U, and Student t tests. CONCLUSIONS: Assessing the validity of medical studies requires a working knowledge of research design and statistics; obtaining this knowledge need not be beyond the ability of the busy surgeon. The authors have tried to construct an accurate, easy-to-read, easy-to-apply, basic introduction to comparing two groups. The long-term goal of the present tutorial and others in the series is to facilitate basic understanding of clinical research, thereby stimulating reading of some of the numerous well-written research design and statistical texts. This knowledge may then be applied to the continuing educational review of the literature and the systematic prospective analysis of individual practices.

Tutorials in clinical research, part VIII: Creating a journal club.

OBJECTIVE: The present report is the eighth in a series of sequential tutorials entitled "Tutorials in Clinical Research." The objective of the report is to provide the reader with information to create or refine a journal club. STUDY DESIGN: Tutorial. METHODS: The authors met weekly for 3 months and discussed the features of a journal club that would be of interest to otolaryngologists. A Medline search provided a number of relevant articles for review. RESULTS: The report is organized into the following sections: Introduction, History of Journal Club, Goals of Journal Club, Basic Organization, Factors Associated With Successful Journal Clubs, Design of Journal Club, Selecting Literature, Evaluation of Journal Club, and Summary. CONCLUSIONS: There is a paucity of information within the otolaryngology literature regarding the journal club and the significant role it can play in physician education. The flexible nature of the journal club gives it the potential to address many educational needs. Its relevance has never been greater.

Costal cartilage tracheoplasty for congenital long-segment tracheal stenosis.

OBJECTIVES: To evaluate and report the outcome of costal cartilage tracheoplasty for the treatment of congenital long-segment tracheal stenosis. DESIGN: Retrospective chart review. SETTING: Academic tertiary care children's hospital. PATIENTS: Consecutive series of 10 patients who presented with congenital long-segment tracheal stenosis. INTERVENTION: All patients underwent costal cartilage tracheoplasty while receiving cardiopulmonary bypass. MEASUREMENTS: Age at repair, weight at repair, length of stenosis, minimal diameter of stenosis, postoperative days receiving ventilator support, postoperative days until discharge, postoperative bronchoscopies, postoperative complications, associated anomalies, survival rate, and current status. RESULTS: There were 8 males and 2 females with an average age at repair of 18 weeks. Average weight was 5.2 kg. Average length of stenosis was 3.2 cm, and average minimal diameter was 1.9 mm. Average postoperative days receiving ventilator support was 17 with a median of 9.5. Average postoperative days until discharge was 35.2 with a median of 17. Average postoperative bronchoscopies was 18 with a median of 4.5. There was a 40% major postoperative complication rate. Seven of the patients had associated anomalies. No patient died from an inadequate tracheal airway, though 2 patients ultimately died from other cardiopulmonary complications for a survival rate of 80%. Average time since surgery for survivors is 8.0 years. Two patients still require treatment. Seven of the original 10 patients are fully active without tracheostomy. CONCLUSION: We report one of the largest series of costal cartilage tracheoplasty for congenital long-segment tracheal stenosis and one that has met with a relatively high success rate.

Tutorials in clinical research, part VI: descriptive statistics.

OBJECTIVES: This is the sixth in a series of Tutorials in Clinical Research. The objectives of this tutorial are to produce a brief, step-by-step, user-friendly atlas with clinical scenarios and illustrative examples to serve as ready references and, it is hoped, to open an inviting door to understanding statistics. STUDY DESIGN: Tutorial. METHODS: The authors met weekly for 6 months discussing clinical research articles and the applied statistics. Liberal use of reference texts and discussion focused on constructing a tutorial that is factual as well as easy to read and understand. RESULTS: The tutorial is organized into five sections: Overview, Key to Descriptive Summaries, Steps in Summarizing Descriptive Data, Understanding the Summaries of Specific Data Types, and Understanding Scope or Dispersion of Data. CONCLUSIONS: Assessing the validity of medical studies requires a working knowledge of statistics; however, obtaining this knowledge need not be beyond the ability of the busy surgeon. Desire is the only limiting factor. We have tried to construct an accurate, basic, easy-to-read-and-apply introduction to the task of summarizing the characteristics of a single variable. This is known as descriptive statistics.

Tutorials in clinical research: part V: outcomes research.

OBJECTIVES: This is the fifth in a series of sequential "Tutorials in Clinical Research." The objective of the present report is to give the reader a broad overview of the field of outcomes research. This summary is intended to enable the reader to understand outcomes research methodology and to start the design of an outcomes research study. STUDY DESIGN: Tutorial. METHODS: The authors developed the report from available materials and refined it to be concise but complete for use by the practicing clinician. RESULTS: We describe the basic steps of record-based and patient-based outcomes research, including development of a staging system, identification of comorbid conditions, and creation or identification of an outcomes instrument. CONCLUSION: Outcomes research is a unique methodology that uses patient-based outcomes to assess the effectiveness of medical treatment.

Tutorials in clinical research: part IV: recognizing and controlling bias.

OBJECTIVE: This is the fourth of a series of Tutorials in Clinical Research (1-3). The objectives of this article are to heighten reader awareness of biases and of methods to reduce their impact and to provide an easy reference document for the reader during future journal reading. STUDY DESIGN: Tutorial. METHODS: The authors met weekly for 4 months discussing clinical research articles and biases for which they might be at risk. Liberal use of reference texts and specific articles on bias were reviewed. Like the example by Sackett, biases were catalogued to create an easily understood reference. Articles were chosen to demonstrate how understanding bias might facilitate assessment of the validity of medical publications. RESULTS: The article is organized into three main sections. The first section introduces specific biases. Two tables serve as rapid reference tools. The second section describes the most common biases linked to specific research approaches and reviews techniques to minimize them. The last section demonstrates the application of the information to an article in a manner that can be applied to any article. CONCLUSIONS: Assessing the validity of a medical publication requires an awareness of bias for which the research is inherently at risk. A review of the publication to determine what steps the authors did or did not undertake to minimize the impact of biases on their results and conclusions helps establish the validity. This article should be of assistance in this critical review task.