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Kenan Haver

Publications and source records attributed to Kenan Haver.

6 recordsLinked to original sources

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.

Algorithms↗

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.

Aftercare↗

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.

Aftercare↗

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

OBJECTIVES: Newborn screening for cystic fibrosis (CF) provides a model to investigate the implications of applying multiple-mutation DNA testing in screening for any disorder in a pediatric population-based setting, where detection of affected infants is desired and identification of unaffected carriers is not. Widely applied 2-tiered CF newborn screening strategies first test for elevated immunoreactive trypsinogen (IRT) with subsequent analysis for a single CFTR mutation (DeltaF508), systematically missing CF-affected infants with any of the >1000 less common or population-specific mutations. Comparison of CF newborn screening algorithms that incorporate single- and multiple-mutation testing may offer insights into strategies that maximize the public health value of screening for CF and other genetic disorders. The objective of this study was to evaluate technical feasibility and practical implications of 2-tiered CF newborn screening that uses testing for multiple mutations (multiple-CFTR-mutation testing). METHODS: We implemented statewide CF newborn screening using a 2-tiered algorithm: all specimens were assayed for IRT; those with elevated IRT then had multiple-CFTR-mutation testing. Infants who screened positive by detection of 1 or 2 mutations or extremely elevated IRT (>99.8%; failsafe protocol) were then referred for definitive diagnosis by sweat testing. We compared the number of sweat-test referrals using single- with multiple-CFTR-mutation testing. Initial physician assessments and diagnostic outcomes of these screened-positive infants and any affected infants missed by the screen were analyzed. We evaluated compliance with our screening and follow-up protocols. All Massachusetts delivery units, the Newborn Screening Program, pediatric health care providers who evaluate and refer screened-positive infants, and the 5 Massachusetts CF Centers and their affiliated genetic services participated. A 4-year cohort of 323 506 infants who were born in Massachusetts between February 1, 1999, and February 1, 2003, and screened for CF at approximately 2 days of age was studied. RESULTS: A total of 110 of 112 CF-affected infants screened (negative predictive value: 99.99%) were detected with IRT/multiple-CFTR-mutation screening; 2 false-negative screens did not show elevated IRT. A total of 107 (97%) of the 110 had 1 or 2 mutations detected by the multiple- CFTR-mutation screen, and 3 had positive screens on the basis of the failsafe protocol. In contrast, had we used single-mutation testing, only 96 (87%) of the 110 would have had 1 or 2 mutations detectable by single-mutation screen, 8 would have had positive screens on the basis of the failsafe protocol, and an additional 6 infants would have had false-negative screens. Among 110 CF-affected screened-positive infants, a likely "genetic diagnosis" was made by the multiple-CFTR-mutation screen in 82 (75%) versus 55 (50%) with DeltaF508 alone. Increased sensitivity from multiple-CFTR-mutation testing yielded 274 (26%) more referrals for sweat testing and carrier identifications than testing with DeltaF508 alone. CONCLUSIONS: Use of multiple-CFTR-mutation testing improved sensitivity and postscreening prediction of CF at the cost of increased referrals and carrier identification.

Algorithms↗

National trends in asthma visits and asthma pharmacotherapy, 1978-2002.

BACKGROUND: Research is limited on physicians' compliance with recent clinical guidelines for asthma treatment. OBJECTIVE: Our purpose was to investigate the relationships among clinical guidelines, asthma pharmacotherapy, and office-based visits through use of nationally representative data. METHODS: Nationally representative data on prescribing patterns by office-based US physicians were extracted from the National Disease and Therapeutic Index. We tracked 1978-2002 trends in the frequency of asthma visits and patterns of asthma pharmacotherapy, focusing on the use of controller and reliever medications. RESULTS: The estimated annual number of asthma visits in the United States increased continuously from 1978 through 1990 (18 million visits); since 1990, it has remained relatively stable. Controller medication use increased 8-fold between 1978 and 2002, inhaled corticosteroids manifesting the biggest increases. The use of reliever medications, particularly short-acting oral beta(2)-agonists, decreased modestly over this period. The aggregate use of controllers (83% of visits) superseded that of relievers (80%) for the first time in 2001. Improved appropriateness of asthma pharmacotherapy was also suggested by an increase in the controller-to-reliever ratio, which reached 92% in 2002. Xanthines, which once dominated asthma therapy (63% of visits in 1978), were used in only 2% of visits in 2002. More recent drug entrants have been adopted rapidly, single-entity long-acting inhaled beta(2)-agonists being used in 9% of visits and leukotriene modifiers in 24% of visits in 2002. CONCLUSION: Asthma pharmacotherapy has changed extensively in the past 25 years. Practices over the last decade are increasingly consistent with evidence-based guidelines. These changes in medication use might have contributed to the lack of a recent increase in asthma visits.

Adolescent↗