Phenytoin therapy for junctional epidermolysis bullosa.

Junctional epidermolysis bullosa (JEB) is a recessively inherited mechanobullous disease characterized by neonatal onset of blisters, healing without scarring or milium formation, dystrophic nails, and internal involvement in some patients. Several treatment modalities have been tried, including systemic corticosteroids and oral vitamin E, but no form of therapy has been uniformly successful. We describe a patient with JEB treated with phenytoin, followed by improvement in his skin lesions.

Is tracheotomy decannulation possible in oxygen-dependent children?

OBJECTIVE: The goal was to determine whether decannulation can be safely achieved in children with persistent oxygen requirements. DESIGN: The study was a prospective evaluation of 12 oxygen-dependent children at a tertiary care academic children's medical center. METHODS: Twelve tracheotomy-dependent children with persistent oxygen requirements were evaluated for decannulation. Patients requiring more than 35% FiO(2) were not considered. Direct laryngoscopy and bronchoscopy were performed in all patients. Two required single-stage laryngotracheoplasty to correct subglottic stenosis, 1 required tracheal resection, and 7 required removal of suprastomal granulation tissue. Oxygen was administered after decannulation through a nasal cannula. RESULTS: Decannulation was successful in 92% (11 of 12) of patients. At final follow-up, oxygen requirements decreased in 58% of patients after decannulation. CONCLUSIONS: Decannulation can be successful in children who remain oxygen dependent; conversion to a more physiologic airway may be an adjunct to reducing or eliminating their oxygen demand.

Management of childhood asthma: more than juggling medication doses.

Optimal management of asthma in children requires a program of patient education, avoidance of triggers, prevention of airway inflammation, and symptomatic management of episodic wheezing. Use of patient-initiated interventions based on peak expiratory flow rates determined daily in the home setting promotes early interruption of symptom cycles and better assessment of severity of disease. A fully outlined management program for any given patient requires investment of time and energy on the part of the physician, but the long term rewards for both physician and patient are significant.

Serial analysis of the gut and respiratory microbiome in cystic fibrosis in infancy: interaction between intestinal and respiratory tracts and impact of nutritional exposures.

UNLABELLED: Pulmonary damage caused by chronic colonization of the cystic fibrosis (CF) lung by microbial communities is the proximal cause of respiratory failure. While there has been an effort to document the microbiome of the CF lung in pediatric and adult patients, little is known regarding the developing microflora in infants. We examined the respiratory and intestinal microbiota development in infants with CF from birth to 21 months. Distinct genera dominated in the gut compared to those in the respiratory tract, yet some bacteria overlapped, demonstrating a core microbiota dominated by Veillonella and Streptococcus. Bacterial diversity increased significantly over time, with evidence of more rapidly acquired diversity in the respiratory tract. There was a high degree of concordance between the bacteria that were increasing or decreasing over time in both compartments; in particular, a significant proportion (14/16 genera) increasing in the gut were also increasing in the respiratory tract. For 7 genera, gut colonization presages their appearance in the respiratory tract. Clustering analysis of respiratory samples indicated profiles of bacteria associated with breast-feeding, and for gut samples, introduction of solid foods even after adjustment for the time at which the sample was collected. Furthermore, changes in diet also result in altered respiratory microflora, suggesting a link between nutrition and development of microbial communities in the respiratory tract. Our findings suggest that nutritional factors and gut colonization patterns are determinants of the microbial development of respiratory tract microbiota in infants with CF and present opportunities for early intervention in CF with altered dietary or probiotic strategies. IMPORTANCE: While efforts have been focused on assessing the microbiome of pediatric and adult cystic fibrosis (CF) patients to understand how chronic colonization by these microbes contributes to pulmonary damage, little is known regarding the earliest development of respiratory and gut microflora in infants with CF. Our findings suggest that colonization of the respiratory tract by microbes is presaged by colonization of the gut and demonstrated a role of nutrition in development of the respiratory microflora. Thus, targeted dietary or probiotic strategies may be an effective means to change the course of the colonization of the CF lung and thereby improve patient outcomes.

Allergic drug reactions: identification and management.

Any attempt to distinguish allergic drug reactions from other adverse drug reactions (ADRs) can be complicated by the fact that terminology in this area has not been standardized. True allergic reactions are those resulting from immunologic causes, and their prevalence is only 6 to 10% of all ADRs. A number of factors predispose individuals to drug allergies--the recognition of which might aid the healthcare professional in diagnosing these reactions--and other criteria can be helpful in the process. In order to successfully separate pseudoallergic from allergic from other adverse drug reactions, the clinician must proceed with caution and suspicion. When foreseeable allergic reactions cannot be prevented, measures can be taken that might reduce their impact.

Respiratory manifestations of gastroesophageal reflux in children.

Gastroesophageal reflux is often overlooked as both a cause and a complication of respiratory disease in children. The manifestations may be protean and may bear little clinical relationship to the gastrointestinal tract. However, a high index of suspicion for its potential role in unexplained respiratory symptoms may yield large benefits for the physician and patient alike.

Unrecognized exercise-induced bronchospasm in adolescent athletes.

OBJECTIVE--As part of their preparticipation physical examinations, 1241 middle and high school student athletes completed a questionnaire and were interviewed to elicit risk factors for unrecognized exercise-induced bronchospasm (EIB). Spirometry was then performed when the students were at rest. RESEARCH DESIGN--All participants completed a questionnaire, were interviewed, and underwent baseline testing to determine forced expiratory volume in 1 second (FEV1). SETTING--All testing was performed in a school setting. SELECTION PROCEDURES--Athletes known to have EIB who were receiving appropriate treatment (46 athletes [4%]) and athletes with no risk factors based on medical history and normal results of spirometry (847 athletes [68%]) were eliminated from further evaluation. Students with medical histories indicating risk of unrecognized EIB and students with abnormal results of spirometry were eligible for exercise challenge by standard treadmill protocol. MEASUREMENTS AND RESULTS--Of the 348 eligible students, 230 (66%) completed the exercise challenge. Sixty-six of the 230 students had greater than 15% reduction in FEV1, and 50 of the 66 students had greater than 20% reduction, representing a 29% occurrence of previously undiagnosed EIB in a population of students identified with screening to be at risk of unrecognized EIB. Of the 179 students identified to be at risk based on medical history only, 28% had EIB. Of 33 students with positive results of spirometry but no medical history that put them at risk, 15% had EIB. Of the 18 students with medical histories that put them at risk and positive results of spirometry, 61% had EIB. Including the subpopulation with reduction in FEV1 of greater than 15%, students shown to be at risk after screening, and students previously identified as having EIB, 145 students were identified as having EIB (12%). CONCLUSIONS--These data are in accord with results of previously reported studies of college and Olympic athletes. The data may have implications for more extensive screening in the adolescent population.

Comparison of inhaled metaproterenol, inhaled atropine sulfate, and their combination in treatment of children with acute asthma.

The separate and combined effects of inhaled metaproterenol and atropine sulfate were evaluated in the treatment of 44 episodes of acute asthma occurring in 35 children ranging in age from 13 months to 13 years. Peak expiratory flow rate and pulmonary index were measured before and after each of up to three inhalation treatments. Significant improvement in peak flow rate (P less than .04) was noted after the second inhalation of metaproterenol both with and without the combination of atropine sulfate compared with the effects of atropine alone. Patients treated with metaproterenol and metaproterenol combined with atropine also experienced fewer therapeutic failures (2/15 and 2/16, respectively) compared with those treated with atropine (6/13, P less than .02). Pulmonary index scores did not differ among the treatment groups. Inhaled metaproterenol appears to be more effective than inhaled atropine sulfate in the treatment of children with acute asthma. The addition of inhaled atropine sulfate appears to offer no advantage over treatment with inhaled metaproterenol alone.

The value of screening for risk of exercise-induced asthma in high school athletes.

Exercise challenges were performed on 166 middle and high school student athletes (aged 12 to 18 years) to evaluate undiagnosed exercise-induced asthma (EIA). Seventy-three percent were male, 70% were white, and 30% were black. All students completed a questionnaire and were briefly interviewed to elicit risk factors for EIA. Resting spirometry, exercise treadmill provocation, and postexercise spirometry at 1, 10, 20, and 30 minutes were performed. Twenty-two students had reductions in FEV1 > or = 15% from baseline; 15 of these had FEV1 reductions > or = 20%. Of students considered at risk for EIA by history or baseline spirometry (N = 48, 29%) eight (17%) demonstrated EIA after exercise. Of students with no risk factors (N = 118, 71%), 14 (12%) demonstrated EIA after exercise, but would not have been identified without exercise challenge. The overall incidence of EIA was 12%, a rate that is consistent with previous studies of college and Olympic athletes. Sixty-four percent of students identified with EIA were not considered at risk by routine screening methods. History and spirometry alone may not be adequate as screening tools for EIA in adolescents.

Chronic urticaria related to sialoadenitis.

A 31-year-old black male experienced severe recurrent urticaria and angioedema during meals. An abnormal sialographic pattern indicated submandibular sialoadenitis, and surgical excision of the gland resulted in complete resolution of the urticaria. This report describes the association of sialoadenitis and urticaria and possible mechanisms involved.

Use of transfer factor in a pediatric AIDS patient with disseminated Mycobacterium avium intracellulare.

An 8-year-old male with AIDS and disseminated Mycobacterium avium intracellulare infection was treated with transfer factor (TF) prepared from maternal lymphocytes. Subsequent lymphocyte stimulation studies and repeat cultures failed to demonstrate improvement during treatment. His overall clinical status remained unchanged. No adverse effects of TF were noted.

Metabisulfite sensitivity: case report and literature review.

Sulfiting agents have recently been identified as food and drug additives responsible for adverse reactions. These reactions are not rare and may result in life-threatening asthma and anaphylaxis. We report a 34-year-old female with intractable asthma and urticaria. Sensitivity to sulfites was suspected based on exacerbation after restaurant meals and metaproterenol 5% inhalant solution. Bronchial provocation challenge resulted in a 28% decrease in FEV1 and a 34% decrease in FEF25-75 at the 0.01 mg/ml dose. Thirty-two cases of sulfite sensitivity reported in the literature are reviewed. Foods and drugs containing sulfites are listed. The pathogenic mechanism is unknown. The FDA allows the addition of sulfites to foods and drugs without disclosure. Only recently has this potential hazard been recognized. The FDA is considering a labeling requirement on drugs that do contain sulfites.

Effect of interleukin-2 and mitogen on in vitro immunoglobulin production by peripheral blood lymphocytes from patients with selective IgM deficiency.

Immunoglobulin production by mitogen and recombinant interleukin-2-(rIL-2)-stimulated lymphocytes from IgM-deficient patients was studied. The findings were that subnormal serum IgM levels did not necessarily predict defective in vitro IgG or IgM production, lymphocytes from some IgM-deficient patients exhibited defective T cell function, and rIL-2 did not enhance defective in vitro immunoglobulin production.

IgM deficiency: clinical spectrum and immunologic assessment.

Selective IgM deficiency has been associated with recurrent infections and enteric protein loss. We have evaluated eight patients with IgM deficiency presenting with recurrent infections and manifestation of atopy. A variety of subtle immunologic aberrations were noted, including depressed IgM and elevated IgG responses to immunization with bacteriophage OX174. Despite normal quantitative IgG in most patients, IgG antibody responses to diphtheria-tetanus and/or pneumococcal polysaccharide antigens were generally depressed. No correlation could be made between antibody responses (or lack thereof) and the nature of infections in any given patient.