Robert A. Schoumacher

Effects of adeno-tonsillectomy on polysomnography patterns in Down syndrome children with obstructive sleep apnea: a comparative study with children without Down syndrome.

OBJECTIVE To determine if adeno-tonsillectomy (T&A) in children with Down syndrome (DS) improves breathing, measured by apnea hypopnea index (AHI), rapid eye movement AHI (REM-AHI) and the lowest oxygen desaturation (SaO2), and sleep disruption, measured by arousal index (ArI) and time spent in stages 1-4 and rapid eye movement (REM) sleep and compare these results with a group of non-DS children with obstructive sleep apnea (OSA). STUDY DESIGN Retrospective chart review at pediatric sleep center. PATIENTS Eleven DS and nine non-DS children underwent pre- and post-T&A polysomnography between 1997 and 2005. OUTCOME MEASURES Pre- and post-T&A polysomnography parameters were compared using paired t-test and independent samples test. RESULTS Mean age in DS group was 101 months and non-DS group was 80 months (64% males in DS and 88% in non-DS group). The average BMI was 29.8 and 27.6 for DS and non-DS group. The total AHI showed significant improvement after T&A but this was not as marked as the non-DS group. REM-AHI and lowest SaO2 did not show significant change in the DS children. The non-DS group showed significant improvement in all respiratory parameters. Both groups showed mild improvement in sleep parameters. With the modest overall improvement, 27% of the DS children required no further treatment. However, 73% required CPAP, BiPAP or oxygen for persistent OSA. CONCLUSION This study supports the fact that T&A in DS children improves some parameters of OSA, however not as markedly as in non-DS children.

Plastic bronchitis occurring late after the Fontan procedure : Treatment with aerosolized urokinase

Objective To describe the use of aerosolized urokinase in a patient with plastic bronchitis after a Fontan procedure. Design Case report. Setting Pediatric intensive care unit in a university-affiliated children’s hospital. Patients Report of one patient with acute respiratory failure secondary to plastic bronchitis. Interventions Aerosolized urokinase, multiple bronchoscopies, corticosteroids, mucolytics, bronchodilators, and atrial pacing. Measurements and Main Results Airway obstruction secondary to recurring casts improved with the treatments. Histologic analysis of the casts demonstrated less fibrin after treatments with aerosolized urokinase. No adverse events were noted. Conclusions The addition of aerosolized urokinase to this patient’s treatment regimen helped to resolve life-threatening airway obstruction secondary to fibrin casts.

Evaluation and management of hemoptysis in infants and children. A report of nine cases.

Hemoptysis is an occasional complication of adult pulmonary disease and is rare in children. The most common causes in adults are infection, bronchiectasis, pulmonary neoplasm, cystic fibrosis, pulmonary infarct, and trauma; in children the most common causes are infection and congenital abnormalities of the cardiopulmonary vasculature. Nine cases of hemoptysis in seven infants and two children will be presented. Two cases were fatal, thus illustrating the importance of rapid and definitive therapy early in the course. One of the fatal cases is the first case report in the otolaryngological literature of fatal hemoptysis in the newborn as a result of vascular anomalies associated with an absent left pulmonary artery. Eight cases of various causes, including small vessel vascular abnormality, trauma, recurrent pulmonary infection, and laryngotracheal papilloma, are discussed. The literature is reviewed, embryology is discussed, and a mechanism of death is theorized for the patient with the congenital vessel anomaly. Management considerations for hemoptysis in infants and children are discussed.

Body mass index as an indicator of obstructive sleep apnea in pediatric Down syndrome

OBJECTIVE Our objective was to determine if higher body mass index (BMI) increases the likelihood of, obstructive sleep apnea (OSA) in pediatric Down syndrome (DS) patients. METHODS We performed a, retrospective chart review of 63 DS patients evaluated by overnight polysomnography from December 1995 to February 2005. Patients aged less than 2 years were excluded. Remaining patients were grouped, according to presence (n=19) or absence (n=33) of OSA based on apnea hypopnea index (AHI). OSA, and non-OSA DS groups were age matched while blinded to patient attributes other than age and OSA, status. Patients without appropriate age matches were excluded. We recorded various patient information, including age, sex, height, weight, number of apneas, number of hypopneas, respiratory distress index (RDI), apnea-hypopnea index (AHI), lowest oxygen saturation during sleep, mean oxygen saturation, number of arousals per hour, and mean time spent in REM sleep. We calculated BMI using the, standard kg/m(2) formula and converted this into a Z-score. RESULTS Fifty-two DS patients were analyzed with average age of 9.3+/-4.5 years (10.2+/-4.2 in 33 OSA patients, 7.8+/-4.3 in 19 non-OSA patients). There were 28 males and 24 females. The OSA group mean BMI Z-score was 2.09+/-0.94, and the non-OSA group Z-score was 1.4+/-1.40. The Z-scores for BMI were statistically significant between OSA and non-OSA patients with p=0.03 by t-test. CONCLUSIONS When age and sex adjusted, BMI has a statistically significant association with the presence of OSA in Down syndrome patients. The incidence of OSA also increases with increasing age in this population.

Excessive daytime sleepiness and sleep-disordered breathing disturbances in survivors of childhood central nervous system tumors.

Improvements in treatment and management for pediatric central nervous system (CNS) tumors have increased survival rates, allowing clinicians to focus on long‐term sequelae, including sleep disorders. The objective of this study was to describe a series of CNS tumor survivors who had sleep evaluations that included polysomnography (PSG) with attention to sleep disorder in relation to the tumor site.

Biophysical Properties of a Chloride Channel in the Apical Membrane of a Secretory Epithelial Cell

1. Patch clamp studies on colonic tumor cell line T84 show the presence of chloride channels. 2. The channels are activated by forskolin, PGE2, or 8-Br-cAMP. 3. Single channel conductance was ca 40 pS at the reversal potential, increasing to 70 pS at +80 mV and decreasing to 25 pS at -80 mV. 4. Relative permeabilities were I greater than Br greater than Cl greater than F.

Effects of adenotonsillectomy on polysomnographic parameters in children with sickle cell disease

Obstructive sleep apnea (OSA) in the pediatric sickle cell disease (SCD) population can promote nightly hemoglobin oxygen desaturation, which increases the risk of central nervous system insult and may impair cognitive function. Adenotonsillectomy can ameliorate OSA symptoms, but its effect in children with SCD has not been fully investigated. We reviewed the effects of adenotonsillectomy in thirteen children with SCD by comparison of pre and post‐adenotonsillectomy polysomnography (PSG) parameters. Significant reduction in hemoglobin oxygen desaturation, decreased apnea‐hypopnea index, and increased rapid eye movement sleep occurred after adenotonsillectomy. Adenotonsillectomy promotes improvement in sleep quality in children with SCD and PSG‐confirmed OSA. Pediatr Blood Cancer 2013; 60: E26–E28.

Airway evaluation and management in 7 children with malignant infantile osteopetrosis before hematopoietic stem cell transplantation.

Malignant infantile osteopetrosis (MIOP) is a rare disorder caused by dysfunctional osteoclasts. The classic MIOP features, such as frontal bossing, micrognathia, and small thorax, may place these children at risk for developing obstructive sleep apnea (OSA) and chronic hypoxemia. To objectively document OSA, airway evaluations were performed; results impacted management. We reviewed the records of 7 MIOP patients treated at St Jude. Six underwent polysomnograms during prehematopoietic stem cell transplantation (HSCT) evaluation. To determine the existence of a relationship between OSA and radiologic imaging, initial chest radiographs and bone mineral density studies were reviewed. Pre-HSCT patients had a median apnea-hypopnea index of 17.51 (normal, 0 to 2), with <25% being central events, thus indicating OSA. The median minimal oxygen saturation was 79%, indicating intermittent hypoxemia. Neither chest radiographs nor bone mineral density correlated with severity of OSA. Four patients received tracheostomies before or during HSCT. Three surviving children underwent polysomnograms 1 year after HSCT, and median apnea-hypopnea index was 1.3, indicating near to complete resolution of OSA. Resolution of OSA may have been multifactorial. Using a quantitative approach, we demonstrate that MIOP children have OSA and hypoxemia; thus, these children should have airway evaluations and treatments to potentially reduce the risk of life-threatening pulmonary complications.

Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES)

Type 1 hyper IgE syndrome (HIES), also known as Jobs Syndrome, is an autosomal dominant disorder due to defects in STAT3 signaling and Th17 differentiation. Symptoms may present during infancy but diagnosis is often made in childhood or later. HIES is characterized by immunologic and non-immunologic findings such as recurrent sinopulmonary infections, recurrent skin infections, multiple fractures, atopic dermatitis and characteristic facies. These manifestations are accompanied by elevated IgE levels and reduced IL-17 producing CD3+CD4+ T cells. Diagnosis in young children can be challenging as symptoms accumulate over time along with confounding clinical dilemmas. A NIH clinical HIES scoring system was developed in 1999, and a more recent scoring system with fewer but more pathogonomonic clinical findings was reported in 2010. These scoring systems can be used as tools to help in grading the likelihood of HIES diagnosis. We report a young child ultimately presenting with disseminated histoplasmosis and a novel STAT3 variant in the SH2 domain.

Cystic fibrosis mutations in white and black Americans: an approach to identification of unknown mutations with implications for cystic fibrosis screening.

OBJECTIVE We sought to define the frequency of common cystic fibrosis mutations in white and black American probands from our geographic region. STUDY DESIGN Mutation analysis was performed for delta F508, G551D, G542X, R553X, S549N, an d N1303K. For probands with undetermined mutations single-stranded conformational polymorphism analysis was performed. RESULTS Among 40 white subjects with cystic fibrosis 26 (65%) were homozygous for delta F508, 10 (25%) were heterozygous for delta F508 and another unknown mutation, and two were homozygous for unknown mutations. Among 10 black probands one was homozygous for delta F508, seven (70%) were heterozygous for delta F508 and another unknown mutation, and one was homozygous for unknown mutations. Single-stranded conformational polymorphism analysis for selected exons was performed for 11 probands with unknown mutations. One mutation was detected in a white proband. Sequencing of this exon showed the mutation to be Q493X. CONCLUSIONS Thirty percent of white subjects and 80% of black subjects carried unknown mutations. In one family single-stranded conformational polymorphism was informative in identifying an undetermined cystic fibrosis mutation.