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PubMed2002

Airway changes in children with mucopolysaccharidoses.

OBJECTIVE: To assess the CT findings of the airway in children with mucopolysaccharidoses (MPS). MATERIAL AND METHODS: The study included 13 patients (9 boys, 4 girls; age range 2-17 years; mean age 9.2 years) with MPS: 6 with Hunter syndrome, 3 with Maroteaux-Lamy syndrome, 2 with Sanfilippo syndrome, 1 with Hurler/Scheie syndrome and 1 with Morquio syndrome. CT of the airways was done in the axial section with 3-mm collimation from the oropharynx at the level of C3 to the base of the lung. The shape of the vocal cords and trachea at the level of T1 was evaluated. The tracheal surface area (TSA) at the level of T1 was measured both in patients and in age-matched subjects. RESULTS: CT showed an abnormality of the vocal cords in 7 of the 13 patients. Six patients had an abnormal shape and 7 had an inhomogenous density. The abnormalities included elliptical (5 of 6) and star-shaped (1 of 6) cords. Eight of 13 tracheas were also abnormal, either U-shaped (6 of 8) or worm-shaped (2 of 8). The TSA was significantly smaller in patients (79.6+/-28.9 mm2) than in control subjects (138.1+/-50.1 mm2). The TSA of those < or =9 years was 61.4+/-15.2 mm2 as compared with 99.9+/-23.5 mm2 for the control group. The TSA of patients > or =11 years was 107.1+/-25.3 mm2 as compared with 187.6+/-32.0 mm2 for the control group. CONCLUSION: Significant changes in the shape of the vocal cords and trachea in patients with MPS were found. The most common abnormal configuration of trachea was the U-shape. The TSA was smaller in patients with MPS than in controls. The airway changes may be due to abnormal submucosal storage of substances such as keratan or dermatan sulfate.

Adolescent↗

PubMed2005

Recent advances in sonographic imaging of fetal thoracic structures.

Recent ultrasonographic methods applied in the evaluation of fetal thoracic structures and anomalies are presented. Fetal lung volumetric assessment by 3D ultrasonography, analysis of the thoracic wall by 3D-rendered image and 3D skeletal-mode imaging, intrathoracic vessel evaluation by 3D power Doppler ultrasonography, analysis of heart anatomy and abnormalities by 4D spatiotemporal image correlation, identification of normal and abnormal intrathoracic almost isoechogenic structures by volume contrast imaging and evaluation of the heart and great vessels by 3 and 4D inverse mode will be reviewed.

Heart Defects, Congenital↗

PubMed2005

Imaging evaluation of congenital lung abnormalities in infants and children.

Congenital lung abnormalities include a wide spectrum of conditions and are an important cause of morbidity and mortality in infants and children. This article discusses focal lung abnormalities and the dysmorphic lung. Pulmonary arteriovenous malformations have been included at the end of the article. Anomalies affecting the pulmonary parenchyma, its arterial supply, and venous drainage are thus discussed.

Child↗

PubMed1982

Teratogenic effects of cyproterone acetate and medroxyprogesterone treatment during the pre- and postimplantation period of mouse embryos. I.

Pregnant mice were treated with a single subcutaneous injection of either cyproterone acetate (CA) or medroxyprogesterone acetate (MPA). In the first experiment the animals received 5-900 mg/kg of the hormone before implantation (day 2 of pregnancy). CA treatment on day 2 caused a dose-dependent decrease in fetal weight and a significant dose-dependent increase in the rates of cleft palate and urinary tract abnormalities. Exencephaly and heart abnormalities were also significantly more frequent, but this increase was not dose-dependent. MPA treatment on day 2 was followed by sporadic increases in dead and resorbed fetuses, a decrease in fetal weight and an increase in the rates of cleft palate, and malformed or abnormally developed fetuses. None of these effects, however, was dose-dependent. In the second experiment the mice were given one single injection (30 mg/kg) of CA or MPA on any one of days 1-12 of gestation. Treatment with CA on one day between days 1 and 12 revealed that the specific sensitivity for abnormalities of the urinary tract was on days 5 and 6, for the respiratory tract on days 8 and 9, and for cleft palate on days 10 and 11. Treatment with MPA on one day between days 1 and 12 only revealed a high rate of respiratory and urinary tract abnormalities on day 9. After treatment with MPA cleft palate was again significantly more frequent in all treated groups, however, days of peak sensitivity were not detected. The long half-life of CA (60 hours) explains the teratogenic effect of high doses of this progestin after treatment on day 2 and also the pattern of abnormal development found after treatment with a single dose of CA on one of the days between day 1 and day 12.

Abnormalities, Drug-Induced↗

PubMed2000

MRI for the assessment of the malformed fetus.

Ultrafast MRI sequences have changed the use of MRI for evaluating fetal abnormalities. Currently, the best application is the demonstration of normal fetal brain development and the further definition of suspected brain abnormalities found on ultrasound. MRI differentiates well the various types of fetal ventriculomegaly. Superior posterior fossa visualization allows differentiation of Dandy Walker malformation from a large cisterna magna. Anomalies of the corpus callosum and some disorders of neuronal migration can be seen. MRI is also valuable in the evaluation of fetal giant neck masses for planning delivery of the baby and surgery for life threatening airway obstruction. In the chest, MRI differentiates masses such as diaphragmatic hernia, cystic adenomatoid malformation and sequestration, and aids in planning fetal surgery because MRI directly visualizes the position of the lung, liver and bowel. MRI defines abnormalities of the urinary tract by demonstrating dysplastic pathology in the renal cortex and dilation of the collecting systems. Oligohydramnios does not effect MRI.

Central Nervous System↗

PubMed1988

Obstructive sleep apnea and cephalometric roentgenograms. The role of anatomic upper airway abnormalities in the definition of abnormal breathing during sleep.

In a six-month period, 157 obstructive sleep apnea syndrome (OSAS) patients seen consecutively in clinic had standardized cephalometric roentgenograms and underwent polygraphic monitoring during sleep. Different variables, including cephalometric landmarks, body mass index (BMI), and polygraphic results (particularly degree of O2 saturation and number of abnormal breathing events), were statistically analyzed. As a rule, OSAS patients had upper airway anatomic abnormalities and an elevated BMI: massive obesity was associated with less anatomic abnormality, less nocturnal sleep disruption, and longer total sleep time (TST). Patients having a high respiratory disturbance index (RDI) were more likely to have upper airway anatomic abnormalities; they slept for a shorter time and had increased stage 1 non-rapid eye movement (NREM) sleep but decreased stage 3 and 4 and REM sleep. Long mandibular plane to hyoid bone (MP-H) distance and width of the posterior airway space (PAS) (space behind the base of the tongue) were statistically significant predictors of elevated RDI. The cephalometric variables were much less useful for predicting frequency of O2 saturation drops below 80 percent. The patient population can be subdivided into (a) patients with clear anatomic abnormalities and low BMI, (b) patients with morbid obesity with few abnormal cephalometric measurements, and (c) patients who have variably increased BMI and abnormal cephalometric measurements. This is the largest group. We concluded that standardized cephalometric roentgenograms can be useful in determining the appropriate treatment for OSAS patients.

Adult↗

PubMed2001

Magnetic resonance imaging of fetal thoracic abnormalities.

Fetal thoracic abnormalities are increasingly being detected using prenatal ultrasound. Prenatal magnetic resonance imaging is an important adjunct in evaluation of fetal chest lesions. It can help differentiate different masses and is most helpful in evaluation of large or atypical masses. It also is very important in planning in utero interventional procedures, delivery, and immediate postnatal surgery.

Female↗

PubMed2002

[Obstructive sleep apnea syndrome].

The obstructive sleep apnea syndrome (OSAS) is caused by an intermittent and repetitive obstruction of the upper respiratory tract during sleep, which leads to a complete (apnea) or partial (hypopnea) block of air flow. It is quite prevalent, being seen in 4-6% of males and 2% of females. Structural abnormalities present in the upper respiratory tract and obesity are the fundamental etiological factors. Clinical manifestations are due to sleep fragmentation and oxygen desaturation which cause the apnea. Day hypersomnia, snoring and episodes of apnea described by the spouse are the three basic symptoms. The diagnosis is based on polysomnography, which can be substituted for a night cardiorespiratory polygraphy. It has an important morbimortality rate, mainly due to traffic and labor accidents, ischemic heart disease and chronic respiratory failure. The treatment is multifactorial. First, eliminating alcohol and hypnotic drugs. Obesity, which is almost always present, must also be corrected. Structural abnormalities of the upper respiratory tract may require a surgical solution. The treatment preferred nowadays is the application of a nasal continuous positive airway pressure (CPAP) while the patient is asleep. It should be considered for those symptomatic patients with an apnea-hypopnea index over 30, or if the index is below 30, than when a respiratory insufficiency or cardiovascular risk factors are present. In some cases surgical procedures may be considered, such as uvulopalatopharyngoplasty.

Female↗

PubMedDate not supplied

Dorsal displacement of the soft palate in 92 horses during high-speed treadmill examination (1993-1998).

OBJECTIVE: To evaluate the occurrence of dorsal displacement of the soft palate (DDSP) during high-speed treadmill (HSTM) exercise in racehorses, and determine treatment efficacy relative to the endoscopic findings observed during resting and HSTM endoscopic examination. STUDY DESIGN: Retrospective study. Animals-Ninety-two racehorses (74 Thoroughbreds, 18 Standardbreds). METHODS: The signalment, history (clinical and race), treatments, and video recordings made during resting and HSTM endoscopy were reviewed in 92 racehorses that developed DDSP during HSTM exercise. Only horses that completed 3 starts before and after HSTM examination were included in performance-outcome analysis. Statistical associations were made between the independent variables (the historical findings and the resting and HSTM endoscopic findings) and performance outcome. RESULTS: Forty-five horses (49%) displaced their palate in an uncomplicated manner, whereas the other horses either had another upper-respiratory abnormality in association with DDSP (35) or displaced after swallowing (12). Although respiratory noise was not recorded during HSTM exercise, only 57 horses (62%) that developed DDSP during HSTM examination had a history of abnormal upper-respiratory noise. For the 45 horses that met the criteria for performance outcome analysis, there were no independent variables recorded during resting or HSTM endoscopy that had a significant association with performance outcome. Treatment for DDSP varied by clinician. Overall, 29 horses (64%) had improved average earnings per start after diagnosis and treatment. CONCLUSIONS: Thirty-five horses (38%) that had DDSP during HSTM endoscopy had no previous history of abnormal upper-respiratory noise, and 74 (80%) had no structural abnormalities noted on resting endoscopic examination. CLINICAL RELEVANCE: HSTM examination is an excellent tool for diagnosis of DDSP and the manner in which it occurs. DDSP did not occur similarly in all horses, and was often associated with another upper-respiratory abnormality. Thus, it is unlikely that a single treatment can be applied effectively for all horses that experience DDSP. Both surgical and medical treatments can be beneficial in improving a horse's performance after a diagnosis of DDSP is made. Neither resting nor HSTM endoscopic findings were clearly prognostic.

Animals↗

PubMed2005

Pulmonary abnormalities due to ABCA1 deficiency in mice.

Mice gene targeted for ATP-binding cassette transporter A1 (ABCA1; Abca1(-/-)) have been shown to have low-serum high-density lipoprotein and abnormal lung morphology. We examined alterations in the structure and function of lungs from -/- mice (DBA1/J). Electron microscopy of the diseased mouse lung revealed areas of focal disease confirming previous results (47). Lipid analysis of the lung tissue of -/- mice showed a 1.2- and 1.4-fold elevation in total phospholipid (PL) and saturated phosphatidylcholine, respectively, and a marked 50% enrichment in total cholesterol content predominantly due to a 17.5-fold increase in cholesteryl ester compared with wild type (WT). Lung surfactant in the -/- mice was characterized by alveolar proteinosis (161%), a slight increase in total PL (124%), and a marked increase in free cholesterol (155%) compared with WT. Alveolar macrophages were enriched in cholesterol (4.8-fold) due to elevations in free cholesterol (2.4-fold) and in cholesteryl ester (14.8-fold) compared with WT macrophages. More PL mass was cleared from the alveolar space of -/- mice lungs, measured using intratracheal installation of (3)H-PL liposomes. Compared with WT mice, the Abca1(-/-) mice demonstrated respiratory distress with rapid, shallow breathing. Thus the lungs of mice lacking ABCA1 protein demonstrated abnormal morphology and physiology, with alveolar proteinosis and cholesterol enrichment of tissue, surfactant, and macrophages. The results indicate that the activity of ABCA1 is important for the maintenance of normal lung lipid composition, structure, and function.

ATP Binding Cassette Transporter 1↗

PubMed1994

Mechanisms of obstructive sleep apneas in infants.

During sleep, infants with obstructive sleep apneas are characterised by snoring, laborious breathing, and profuse sweating. During wakefulness, they may have breath-holding spells, and during feeding, difficult breathing and swallowing coordination. Abnormal weight, difficult growth, and recurring ear infections may also develop. During sleep apneas, cinefluoroscopy shows approximation of tongue and hypopharyngeal tissues, with an obliteration of the air space. The obstructed breaths occur mainly in REM, and light NREM sleep, associated with total short sleep time, and frequent arousals. Preterm infants, and term neonates are more prone to obstructive apneas than older healthy infants. Apneas are more frequently seen in boys and in case of excess in body weight. Obstructive apneas are frequently associated with upper airway anatomic abnormalities: malformations, soft tissue infiltration, and neurologic lesions impairing muscle contractions. Alterations of the autonomic nervous control may induce airways obstructions. Contributing factors include mucopolysaccharide storage disease, hypothyroidism, or Down's syndrome. Superimposed factors may occur, such as nasal obstruction, secretions in the airways, or tissue edema. Pressure- and chemo-sensitive reflexes may also favor obstruction. Environmental factors also contribute to the development of sleep apneas: body position, neck flexion, sleep deprivation, or the effects of sedative drugs.

Airway Resistance↗

PubMed2002

Airway obstruction in children with congenital heart disease: assessment by flexible bronchoscopy.

We assessed the spectrum of airway disorders in children with congenital cardiac anomalies, and reviewed our experience in using flexible bronchoscopy for assessment of airway problems in this patient group. The clinical records, flexible bronchoscopic findings, and cardiac imaging results of pediatric cardiac patients who presented with either clinical or radiological signs of airway obstruction between 1992-1999 were reviewed. Flexible bronchoscopic assessment was performed with the patients under sedation and topical anesthesia, using one of two bronchoscopes, i.e., an Olympus BFN20 or Olympus BF3C20. Of a total of 52 patients, 33 had acyanotic cardiovascular lesions, the commonest being left-to-right shunts (61%), while 19 had cyanotic heart lesions, with right ventricular outflow obstruction being the commonest (63%). Twenty-seven patients had undergone either surgical or transcatheter interventions. The median age at bronchoscopic assessment was 6 months (range, 4 days to 6 years). None of the patients developed significant procedural complications. A definitive diagnosis was made in 48 (92%) patients, 8 of whom had abnormalities involving only the upper airways, 35 only the lower airways, and 5 both. Abnormalities of the upper airway included laryngomalacia (n = 6), subglottic stenosis (n = 3), pharyngeal collapse (n = 2), and 1 each of choanal stenosis and supraglottitis. Extrinsic compression was the commonest lower airway abnormality that was found in 27/40 patients (67%), with a predilection for the left main bronchus (18/27, 67%). The structures that caused extrinsic compression included dilated pulmonary arteries with or without left atrial dilation (n = 20), an anomalous aortic or pulmonary arterial course (n = 3), a dilated aorta (n = 1), and a shunt (n = 1), but were not obvious in 2 patients. Intrinsic lower airway abnormalities included bronchomalacia (n = 4), tracheal stenosis (n = 4), and one each of variant bronchial bifurcation and a pouch arising from the tracheal wall. Intraluminal mucus plugging of the lower airways occurred in the remaining 3 patients. Children with congenital heart disease are at risk of airway obstruction both before and after surgery. Flexible bronchoscopy, being safe and effective in diagnosing airway disorders in this patient group, should be considered as the first line of investigation.

Airway Obstruction↗

PubMed1995

[Morphologic and ultrastructural changes of soft palate in patients who underwent palatopharyngoplasty].

In order to clarify pathogenesis of Obstructive Sleep Apnea Syndrome (OSAS) in patients with anatomic abnormalities of upper airways, we studied soft palate and uvula of OSAS patients by means of histological and ultrastructural techniques. 38 OSAS patients, severe and moderately severe form, underwent modified Palatopharingoplasty. We evaluated only 16 OSAS patients' soft palate and uvula and observed histological changes in all of them: submucosal edema and minor salivary glandes ipertrophy and iperplasy are present. On the contrary, ultramicroscope showed normal muscle fibers. Strie Z alterations and sarcomeres disorganization, although present, have no statistical value. Very probably, ronflement and apneas determined the observed alterations through trauma on pharingeal wall. Therefore, they are not OSAS primary cause.

Humans↗

PubMed2006

Tracheotomy in the first year of life: outcomes in term infants, the Vanderbilt experience.

OBJECTIVE: In an era emphasizing critical care of preterm infants, we characterize the indications and outcomes of tracheotomies performed in the first year of life in term infants compared to preterm infants. METHODS: Retrospective study of 127 tracheotomies performed in the first year of life at a tertiary-care children's hospital between 1988-2004. RESULTS: Mean gestational ages of the term and preterm groups were 38.97 and 29.71 weeks, respectively (P < 0.001). Indications for tracheotomy were upper airway abnormalities in 53% for the term group. The number of subsequent airway procedures required was 1.39 in the term group, achieving decannulation in 36.3%, with a 20.5% mortality rate. CONCLUSION: Compared to preterm infants, the term decannulation rate was favorable, as chronic lung disease was uncommon. However, non-tracheotomy-related mortalities remained high. SIGNIFICANCE: Tracheotomies are often performed for relief of upper airway obstruction, and congenital and acquired comorbidities not related to tracheotomy are associated with adverse outcomes in term infants. EBM RATING: C-4.

Airway Obstruction↗

PubMed2004

The displaced equine soft palate as a source of abnormal respiratory noise during expiration.

REASONS FOR PERFORMING STUDY: To develop the technique of respiratory sound analysis for the diagnosis of dorsal displacement of the equine soft palate. OBJECTIVES: To show that 1) the displaced soft palate can spontaneously vibrate in the presence of expiratory airflow; 2) the observed frequency of vibration can be detected in respiratory sound recordings; and 3) the frequency of vibrations measured in cadaveric specimens are similar to those obtained from audio spectra in exercising horses with DDSP. METHODS: Palatal movements and respiratory sounds were recorded from artificially ventilated cadaveric heads. The fundamental mode of palate vibrations calculated from high-speed videoendoscopic recordings was compared with frequencies detected in the audio spectra and with data collected from exercising horses with DDSP. RESULTS: Palate vibrations occurred when air was blown through the trachea. The fundamental mode of vibrations was present in the audio spectra and was not significantly different from those recorded in vivo. CONCLUSIONS: Vibrations of the soft palate are the probable source of expiratory sounds recorded in horses with DDSP. POTENTIAL RELEVANCE: This study strengthens the case for the application of respiratory sound analysis in the diagnosis of DDSP in exercising horses.

Animals↗

PubMed2000

Clinical outcomes of congenital lung abnormalities.

Individually, congenital abnormalities of the lung are rare but collectively they form an important group of conditions. The range of malformations is broad and the clinical impact is very variable, depending on the degree of malformation. This article groups these conditions under their traditional headings and considers their management. However, in conditions that are atypical, it is often useful to adopt a clear anatomical approach. Consider investigations that will clearly identify the structure of the bronchial tree, lung parenchyma and the vascular supply and drainage. Describe each in logical and simple terms. Similarly, an individual assessment of function will assist in planning appropriate management. The natural history of some of the congenital lung lesions is often unknown. This gap in our knowledge has widened with the advent of detailed antenatal ultrasound scanning. Paediatricians are now faced with an increasing cohort of completely asymptomatic antenatally diagnosed congenital lung lesions and the best post-natal management is unclear. Long-term follow-up studies are required to document their natural history.

Humans↗

PubMed1990

[Clinical significance of the most important abnormalities of respiratory organs].

The incidence rate and the clinical significance of inborn abnormalities of respiratory organs frequently are still underrated. In the clinic for paediatrics of the Medical Academy of Dresden malformations of respiratory organs, situated below the larynx, were demonstrated in 18 per cent of patients who had been referred hither in the course of 20 years for bronchopulmonary diagnostics. The clinical symptoms are very different and often uncharacteristic. Not seldom malformations of that kind first of all remain silent till a superinfection or a striking roentgenogram will arise the suspicion on a malformation. Following symptoms may refer to: permanent or intermitting stridor in the stenoses of the large respiratory tract (trachea and main bronchi), that is diagnosed as the most frequent anomaly. In nearly 80 per cent of the patients suffering from stenoses of a main bronchus symptoms of a recurrent or chronically obstructive bronchitis stood in the foreground. Mostly a tachy- and a dyspnoe are the leading symptoms in case of a connatal lobar emphysema, the most frequent anmaly of the pulmonary parenchyma followed by the pulmonary hypolasia and -agenesis. Chronic or relapsing pneumonias respectively a persisting cough may appear as symptoms in pulmonary sequestrations and in isolated anomalies of the bronchial aborization that otherwise in the majority of the cases will rest clinically mute. The long-term prognosis for children suffering from stenoses in the main bronchis is compared with those of tracheal stenoses relatively satisfactory.

Bronchi↗

PubMed2005

Prevalence of pharyngeal and laryngeal abnormalities in Thoroughbreds racing in Australia, and their association with performance.

REASONS FOR PERFORMING STUDY: Little information is available regarding the prevalence of abnormalities of the upper airway and their association with performance in the general population of Thoroughbred racehorses. OBJECTIVES: To describe the prevalence of selected abnormalities of the upper airway and their association with performance in Thoroughbred racehorses in Australia. HYPOTHESIS: That abnormalities of the upper airway of Thoroughbred racehorses are associated with poor race performance. METHODS: Rhinolaryngoscopy was performed after racing and presence and characteristics of abnormalities of the larynx and pharynx were recorded in a prospective cross-sectional study of Thoroughbred horses racing in Victoria, Australia. RESULTS: Rhinolaryngoscopy was performed once on each of 744 horses over 35 months. Fifty abnormalities of the upper airway were detected in 47 horses (6.3%, 95% confidence interval [CI] 4.7-83%). Epiglottic entrapment was detected in 7 horses (0.9%, 95% CI 0.4-1.9%) and was significantly (P = 0.015) associated with superior performance. Grade 2 asymmetry (4 grade scale) of the left arytenoid cartilage was detected in 9 horses (1.2%, 95% CI 0.5-2.4%) and was also associated with superior performance (P<0.001). Ulceration or erosion of the mucosa of the axial surface of one or both arytenoids was detected in 18 horses (2.4%, 95% CI 13-3.8%) and was not associated with alterations in exercise performance (P = 0.31). CONCLUSIONS: Epiglottic entrapment, Grade 2 laryngeal asymmetry and mucosal erosions detected in Thoroughbred racehorses were not associated with impaired performance; therefore, surgical correction and concern over laryngeal function in horses with Grade 2 asymmetry may not be necessary in individuals performing to expectation.

Animals↗