Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study.

BACKGROUND: Recently, tracheal narrowing has been recognized as a significant comorbid condition in patients with Morquio A, also known as mucopolysaccharidosis IVA. We studied a large cohort of patients with Morquio A to describe the extent of their tracheal narrowing and its relationship to airway management during anesthesia care. METHODS: This is an observational study, collecting data retrospectively, of a cohort of patients with Morquio A. Ninety-two patients with Morquio A syndrome were enrolled, among whom 44 patients had their airway evaluated by computed tomography angiography and had undergone an anesthetic within a year of the evaluation. Our hypothesis was that the tracheal narrowing as evaluated by computed tomography angiography increases with age in patients with Morquio A. The primary aim of the study was to examine the degree of tracheal narrowing in patients with Morquio A and describe the difficulties encountered during airway management, thus increasing awareness of both the tracheal narrowing and airway management difficulties in this patient population. In addition, the degree of tracheal narrowing was evaluated for its association with age or spirometry parameters using Spearman's rank correlation. Analysis of variance followed by the Bonferroni test was used to further examine the age-based differences in tracheal narrowing for the 3 age groups: 1 to 10 years, 11 to 20 years, and >21 years. RESULTS: Patient age showed a positive correlation with tracheal narrowing ( rs= 0.415; 95% confidence interval [95% CI], 0.138-0.691; P = .005) with older patients having greater narrowing of the trachea. Among spirometry parameters, FEF25%-75% showed an inverse correlation with tracheal narrowing as follows: FEF25%-75% versus tracheal narrowing: ( rs = -0.467; 95% CI, -0.877 to -0.057; P = .007). During anesthetic care, significant airway management difficulties were encountered, including cancelation of surgical procedures, awake intubation using flexible bronchoscope, and failed video laryngoscopy attempts. CONCLUSIONS: Clinically significant tracheal narrowing was present in patients with Morquio A, and the degree of such narrowing likely contributed to the difficulty with airway management during their anesthetic care. Tracheal narrowing worsens with age, but the progression appears to slow down after 20 years of age. In addition to tracheal narrowing, spirometry values of FEF25%-75% may be helpful in the overall evaluation of the airway in patients with Morquio A.

Cystic fibrosis infant care challenges in diagnosis and management in the era of newborn screening.

With newborn screening for cystic fibrosis (CF) now accessible in every state in the US, more infants are being diagnosed. Currently, no large-scale randomized studies are available to assist clinicians in providing evidence-based medical care for the youngest CF patients. We review the standard of diagnostic evaluation, the sweat test, showing a slightly altered range for infants less than 6 months of age. Cystic fibrosis transmembrane conductance regulator (CFTR) metabolic syndrome is an entity that can be clinically challenging for parents and caregivers. Simply indentifying infants with CF can be challenging. This review tries to clarify the CFTR gene and its expressions and the additional benefits that may be drawn from newborn screening. We searched literature to review guidelines for care of infants with CF, and we reviewed newborn screening methods and diagnosis. We focused on early nutritional intervention and lung protective strategies to improve growth and lung function outcomes.

Clinically significant but unsuspected restless legs syndrome in patients with sleep apnea.

In this prospective study, the prevalence of clinically significant restless legs syndrome (RLS) with symptoms at least 2 to 3 days per week was 8.3% in 60 sequentially polysomnographically studied patients with clinically significant sleep apnea (Apnea Index score > 5 or Respiratory Disturbance Index score > 10). Age-matched spouses were used as a control group and showed a comparable prevalence of RLS at 2.5% (not significant). Although RLS appears to be only slightly more common in sleep apnea patients than in controls, the importance of this study lies in the fact that clinically significant RLS occurred in 1 of every 12 patients with sleep apnea and, in every case, the RLS was unsuspected before polysomnography. We recommend that all patients undergoing polysomnography to rule out sleep apnea be screened for the symptoms of RLS. We have found the MEMO-NIH consensus conference questionnaire administered at the time of polysomnography to be useful in this regard.