Congenital nasal pyriform aperture stenosis.

Congenital nasal pyriform aperture stenosis is a rare, but increasingly recognized, form of neonatal nasal airway obstruction. The condition may occur as an isolated anomaly or in association with holoprosencephaly. Treatment is determined by the overall prognosis of the infant and the symptomatic severity of the stenosis.     

Distraction osteogenesis for obstructive apneas in patients with congenital craniofacial malformations

Infants with congenital craniofacial malformations often have associated severe mandibular hypoplasia causing obstruction of the hypopharynx by retroposition of the base of the tongue into the posterior pharyngeal airway. Management depends on the severity of the airway obstruction. Most cases can be managed by prone positioning until the infant outgrows the problem at 3 to 6 months of age. In more critical cases, monitoring of oxygen saturation, temporary placement of a nasopharyngeal tube, and placement of an endotracheal tube will be useful procedures. Tracheotomy is an effective method for more severe cases, but longstanding tracheotomies result in high morbidity and occasional mortality. Mandibular distraction was performed in seven patients, ranging in age from 1 to 18 months, with critical obstructive apnea secondary to mandibular hypoplasia characterized by an apnea/hypopnea index greater than 20 apneas per hour and oxygen saturation below 80 percent. Two patients were tracheotomized previously. Mandibular lengthening, from 16 to 25 mm on the left side and from 10 to 22 mm on the right, was achieved in 21 to 25 days. Improvement of airway obstruction parameters was measured on polysomnograms and lateral cephalograms. Mandibular lengthening by gradual distraction is a successful method for young patients with severe mandibular hypoplasia causing critical obstructive apneas. Avoidance of tracheotomy or early decannulation in previously tracheotomized patients is a great advantage for patients with congenital craniofacial malformation.     

Multiple endocrine neoplasia type 1

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The SMMCI tooth differs from the normal central incisor, in that the crown form is symmetric; it develops and erupts precisely in the midline of the maxillary dental arch in both primary and permanent dentitions. Congenital nasal malformation (choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis) is positively associated with SMMCI. The presence of an SMMCI tooth can predict associated anomalies and in particular the serious anomaly holoprosencephaly. Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and duodenal atresia, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia. Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and even prenatally at 18–22 weeks from the routine mid-trimester ultrasound scan. Management depends upon the individual anomalies present. Choanal stenosis requires emergency surgical treatment. Short stature may require growth hormone therapy. SMMCI tooth itself is mainly an aesthetic problem, which is ideally managed by combined orthodontic, prosthodontic and oral surgical treatment; alternatively, it can be left untreated.     

Congenital nasal anomalies: a classification scheme

The purpose of this work was to develop a simple yet comprehensive classification scheme dedicated to congenital nasal anomalies. To date, no such classification system has been proposed and widely used. A 22-year retrospective review was performed. Two hundred sixty-one patients with congenital nasal anomalies were identified. From this extensive database, a systematic morphogenic classification system was devised. Congenital nasal deformities were classified into four categories. Type I, hypoplasia and atrophy, represents paucity, atrophy, or underdevelopments of skin, subcutaneous tissue, muscle, cartilage, and/or bone. Type II, hyperplasia and duplications, representing anomalies of excess tissue, ranging from duplications of parts to complete multiples, are categorized here. In the type III category, clefts, the comprehensive and widely utilized Tessier classification of craniofacial clefts is applied. Type IV deformities consist of neoplasms and vascular anomalies. Both benign and malignant neoplasms are found in this category.     

Assessment of pharyngeal airway stability in normal and micrognathic infants

A current hypothesis for obstructive sleep apnea states that 1) negative airway pressure during inspiration can collapse the pharyngeal airway, and 2) neural control of pharyngeal airway-dilating muscles is important in preventing this collapse. To test this hypothesis we performed nasal mask occlusions to increase negative pharyngeal airway pressures during inspiration in eight normal and five micrognathic infants. Both groups developed midinspiratory pharyngeal obstruction, but obstruction was more frequent in micrognathic infants and varied in some infants with sleep state. The airway usually reopened with the subsequent expiration. The occasional failure to reopen was presumably due to pharyngeal wall adhesion. If airway obstruction occurred in sequential breaths during multiple-breath nasal mask occlusions in normal infants, there was a breath-by-breath change in the airway pressure associated with airway closure (airway closing pressure); the airway closing pressure became progressively more negative. Micrognathic infants showed less ability to improve the airway closing pressure, but this ability increased with age. These findings suggest that nasal mask occlusion can test the competence of the neuromuscular mechanisms that maintain pharyngeal airway patency in infants. Micrognathic infants had spontaneous midinspiratory pharyngeal airway obstructions during snoring. Their episodes of obstructive apnea began with midinspiratory pharyngeal obstruction similar to that seen during snoring and nasal mask occlusions. These findings imply a similar pathophysiology for snoring, spontaneous airway obstruction, and obstruction during snoring.     

Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation

Pfeiffer syndrome (OMIM 101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, ocular proptosis and digital malformations. We report on a type II Pfeiffer female infant with craniosynostosis, hydrocephalus, and characteristic craniofacial and digital abnormalities. The patient had a history of airway difficulty. Bronchoscopy at age four months revealed low tracheal stenosis and fibrous cartilaginous rings. She underwent tracheostomy for the treatment of cyanotic episodes. Molecular analysis revealed a de novo missense mutation c.870 G>T (TGG>TGT) in the FGFR2 gene that predicts a substitution of cysteine for tryptophan at the codon 290, (W290C). There is phenotypic heterogeneity of tracheal anomalies due to FGFR2 mutations. A review of the literature shows that Pfeiffer patients with the similar tracheal abnormalities can be caused by different FGFR2 mutations and, likewise, the patients with the same FGFR2 mutation may manifest different kinds of tracheal anomalies. Tracheal anomalies may occur in Pfeiffer patients and cause morbidity and mortality because of airway obstruction. Recognition and detailed evaluation of tracheal anomalies should be included in the early diagnostic workup for severe Pfeiffer patients.     

Congenital Aortic Stenosis: Some Observations on the Natural History and Clinical Assessment

Three hundred patients, 30 years of age or under, with the clinical diagnosis of aortic stenosis were reviewed to provide information on the accuracy of clinical assessment and the natural history of the condition when left untreated. Sudden death was uncommon and occurred only in patients with clinical evidence of severe obstruction. In infants, the early presentation and lethal nature of aortic stenosis appeared to result from the presence of additional cardiac lesions. Correlation of clinical assessment with hemodynamic data in 83 patients indicated that important stenosis was present if the systolic murmur was accompanied by a thrill and associated with an increased left ventricular impulse, decreased brachial artery pulse pressure, or left ventricular hypertrophy on the electrocardiogram. The site of obstruction could not be established with certainty by clinical examination, but an early systolic ejection click was strong evidence against subvalvular stenosis.     

Regional shape change in adult facial bone curvature with age

Life expectancies have increased dramatically over the last 100 years, affording greater opportunities to study the impact of age on adult craniofacial morphology. This article employs a novel application of established geometric morphometric methods to examine shape differences in adult regional facial bone curvature with age. Three-dimensional semilandmarks representing the curvature of the orbits, zygomatic arches, nasal aperture, and maxillary alveolar process were collected from a cross-sectional cranial sample of mixed sex and ancestry (male and female; African- and European-American), partitioned into three age groups (young adult = 18-39; middle-aged = 40-59 years; and elderly = 60+ years). Each facial region's semilandmarks were aligned into a common coordinate system via generalized Procrustes superimposition. Regional variation in shape was then explored via a battery of multivariate statistical techniques. Age-related shape differences were detected in the orbits, zygomatic arches, and maxillary alveolar process. Interactions between age, sex, and ancestry were also identified. Vector plots revealed patterns of superoinferior compression, lateral expansion, and posterior recession depending on the population/subpopulation, location, and age groups examined. These findings indicate that adult craniofacial curvature shape is not static throughout human life. Instead, age-related spatial modifications occur in various regions of the craniofacial skeleton. Moreover, these regional alterations vary not only through time, but across human populations and the sexes.     

Resection of obstructing inferior nasal turbinates

We report a series of 88 patients in whom 119 obstructing inferior nasal turbinates were resected for airway obstruction, and who have been followed for 3 months to 3 years. The airways were consistently improved and, to date, there have been no undesirable sequelae.     

Continuous positive airway pressure in bronchiolitis.

Over five years 23 infants with evidence of respiratory insufficiency due to bronchiolitis were managed with continuous positive airway pressure (CPAP). This was applied through either a short nasal cannula (14 patients) or an endotracheal tube (nine patients). Clinical improvement was seen in all patients, and there were significant falls in mean respiratory and pulse rates and pressure of carbon dioxide (PCO2). Seven infants with PCO2 values exceeding 8.0 KPa (60.2 mm Hg) responded particularly well. CPAP is effective in bronchiolitis, and when applied by the nasal route it is relatively free from complications.     

Clinical course of congenital toxoplasmosis in children]

Hundred eleven children with the congenital toxoplasmosis were treated at the Department of Infectious and Parasitic Diseases in Childhood in 1979-1988. Multi-symptomatic toxoplasmosis has been diagnosed in 35 cases, ocular form in 65, oligosymptomatic in 6, and asymptomatic in 5 cases. Clinical symptoms suggesting congenital toxoplasmosis was seen in the majority of children (63 cases) in the first year of life and the disease was diagnosed in 50% of cases (33 children) at this age. Congenital toxoplasmosis in the group of 78 children has been diagnosed later. The majority of cases was ocular form. Diagnosis of the oligo- and asymptomatic congenital toxoplasmosis is possible in the first year of life, only. A titre of antibodies is exclusively an indicator of the immunologic response, not a severity of infection and does not contribute to the prognosis. Antitoxoplasma drugs were administered to 102 children including 33 under the first year of life. Pyrimethamine, sulphonamides, and spiramycin were used in the treatment. Dosage, duration of therapy, and way of administration have been established individually in dependence of patients age and clinical form of the congenital toxoplasmosis. Two out of 35 children with multi-symptomatic congenital toxoplasmosis died whereas 13 demonstrate psychomotor retardation of significant degree despite the fact that 11 of them were treated in the first year of life.     

Cephalometric Pattern and Nasal Patency in Children with Primary Snoring: The Evidence of a Direct Correlation

Introduction

Sleep disordered breathing (SDB) might affect craniofacial growth and children with obstructive sleep apnea syndrome present an increase in total and lower anterior heights of the face and a more anterior and inferior position of the hyoid bone when compared to nasal breathers.

Objective

To investigate the correlation between rhinomanometric and cephalometric parameters in children with primary snoring (PS), without apnea or gas exchange abnormalities.

Materials and Methods

Thirty children with habitual snoring (16 females and 14 males) aged 4–8 years (mean age 6.85±1.51 years) were selected by a SDB validate questionnaire. All subjects underwent lateral cephalometric, panoramic radiographies.

Results

In our sample 10 children (33%) had snoring 3 nights/week, 11 (37%) 4–6 nights/week and 9 (30%) every night/week. Overall 7 patients (23.3%) were affected by adenoid hypertrophy (AH), 4 (13.3%) by tonsillar hypertrophy (TH) and 13 (43.3%) by AH and TH. We found a more vertical position of the hyoid bone to the mandibular plane (H⊥VT) in patients with a higher frequency (7.3±2.7 vs 7.6±3.7 vs 10.9±2.5 in children snoring 3 nights/week, 4–6 nights/week and every night/week respectively; p = 0.032). Concerning nasal patency significant correlations were found with ANB (maxillary and jaw position with respect to the cranial base), NS∧Ar (growth predictor), sumangle, FMA (total divergence), SnaSnp∧GoMe (inferior divergence), BaN∧PtGn (facial growth pattern), Phw1_PsP (posterosuperior airway space), AHC3H (the horizontal distance between the most anterosuperior point of the hyoid bone and the third cervical vertebra).

Conclusion

The present study supports the relationship between nasal obstruction and specific craniofacial characteristics in children with primary snoring and lead us to hypothesize that nasal obstruction might explain the indirect link between snoring and cephalometric alterations.     

Craniofacial deformity in patients with uncorrected congenital muscular torticollis: an assessment from three-dimensional computed tomography imaging

Congenital muscular torticollis is caused by idiopathic fibrosis of the sternocleidomastoid muscle that restricts movement and pulls the head toward the involved side. Deformation of the craniofacial skeleton will develop if the restriction is not released and result in aesthetic and functional problems. The purpose of this study was to use three-dimensional computed tomography imaging for qualitative and quantitative evaluation of the craniofacial deformity in a series of patients with uncorrected congenital muscular torticollis, and to assess age as a precipitating factor for severity of the deformity. A total of 14 patients from 1 month to 24 years of age were included. The skull images were rotated into standard orientation and reconfigured for evaluation of the cranium, endocranial base, and facial skeletal structures. The midlines of cranial base and facial bone, angle of midline deviation, width of each hemicranium and hemiface, and the orbital index were defined and measured. The results showed that the cranium and cranial base deformation took place as early as in infant stage, with the most prominent change occurring in the posterior cranial fossa. Facial bone asymmetry started to appear after 5 years of age, at which time the mandibular and occlusal abnormalities were observed. The deformity of the orbits and maxilla occurred at an older age, characterized by the deviation and decreased vertical height on the affected side. The severity of the observed deformities increased with age. The angle of midline deviation was 2.48 +/- 1.68 degrees in the cranial base and 3.26 +/- 3.28 degrees on the facial bone. Both of the midline deviations were significantly correlated with age. Compared with the contralateral side, the width of the ipsilateral posterior hemicranium was longer (54.36 +/- 6.72 mm versus 50.81 +/- 6.55 mm), and the width of the ipsilateral lower hemiface was shorter (35.30 +/- 7.27 mm versus 43.49 +/- 11.34 mm). Both differences were statistically significant. Measurement of the orbital index demonstrated a significantly flatter orbit on the ipsilateral side (89.48 +/- 0.11 versus 92.74 +/- 0.08). This study showed that the cranium and cranial base deformity occurred early in patients with uncorrected torticollis, while the facial bone deformity occurred in childhood stage. The cranial and facial deformity became more severe with age. Early release of the muscle restriction is advised to prevent craniofacial deformation.     

Childhood asthma in adult life: a further study at 28 years of age.

A group of 323 subjects who had wheezed in childhood and 48 control subjects of the same age were studied prospectively from 7 to 28 years of age. A classification system based on wheezing frequency was found to correlate well with clinical and spirometric features of airway obstruction. The amount of wheezing in early adolescence seemed to be a guide for severity in later life with 73% of those with few symptoms at 14 continuing to have little or no asthma at 28 years. Similarly 68% of those with frequent wheezing at 14 still suffered from recurrent asthma at 28 years. Most subjects with frequent wheezing at 21 continued to have comparable asthma at 28 years. Of those with infrequent wheezing at 21, 44% had worsened at 28 years. Women fared better than men between 21 and 28 with 19% having worse symptoms compared with 28% of men. Treatment at all ages was generally inadequate. The number of smokers among those with asthma was of concern.     

Late renal failure due to prostatic outflow obstruction: a preventable disease.

Nineteen patients presenting with late renal failure due to prostatic outflow obstruction (mean age 68.7 years; mean serum creatinine concentration 1158 mumol/l) were identified from the admission records of two renal units. As late renal failure secondary to prostatic enlargement is preventable case records were analysed retrospectively in an attempt to identify aspects of management in which preventive efforts might be of value. Delays in referral were common, with a mean of 2.8 years between the onset of prostatic symptoms and time of referral, six patients being referred who had had symptoms for more than three years. Four of five patients who had had a prostatectomy were known to be in renal failure at the time of operation but were not referred until 2-13 years later, when prostatic symptoms had recurred and there was evidence of progressive nephropathy with dilatation of the upper urinary tract. Two patients died on admission and eight (47% of survivors) required long term dialysis, most patients (80%) requiring some dialysis support during the initial period. These findings suggest that progressive nephropathy caused by prostatic outflow obstruction might, in part, be averted by more adequate screening of renal function in men with untreated prostatism and closer follow up of patients with uraemia at the time of prostatectomy.     

Estimation of airway obstruction using oximeter plethysmograph waveform data

Background

Validated measures to assess the severity of airway obstruction in patients with obstructive airway disease are limited. Changes in the pulse oximeter plethysmograph waveform represent fluctuations in arterial flow. Analysis of these fluctuations might be useful clinically if they represent physiologic perturbations resulting from airway obstruction. We tested the hypothesis that the severity of airway obstruction could be estimated using plethysmograph waveform data.

Methods

Using a closed airway circuit with adjustable inspiratory and expiratory pressure relief valves, airway obstruction was induced in a prospective convenience sample of 31 healthy adult subjects. Maximal change in airway pressure at the mouthpiece was used as a surrogate measure of the degree of obstruction applied. Plethysmograph waveform data and mouthpiece airway pressure were acquired for 60 seconds at increasing levels of inspiratory and expiratory obstruction. At each level of applied obstruction, mean values for maximal change in waveform area under the curve and height as well as maximal change in mouth pressure were calculated for sequential 7.5 second intervals. Correlations of these waveform variables with mouth pressure values were then performed to determine if the magnitude of changes in these variables indicates the severity of airway obstruction.

Results

There were significant relationships between maximal change in area under the curve (P < .0001) or height (P < 0.0001) and mouth pressure.

Conclusion

The findings suggest that mathematic interpretation of plethysmograph waveform data may estimate the severity of airway obstruction and be of clinical utility in objective assessment of patients with obstructive airway diseases.     

Airway remodeling in asthma: clinical and functional correlates

Asthma is a chronic inflammatory disorder of the airways associated with bronchial hyperresponsiveness and permanent structural changes. Asthma can cause progressive lung impairment with a progressive decline of lung function leading to partially reversible or irreversible airway obstruction. These structural changes are called airway remodelling including loss of epithelial integrity, thickening of basement membrane, subepithelial fibrosis, goblet cell and submucosal gland enlargement, increase smooth muscle mass, decreased cartilage integrity and increased airway vascularity. These remodelling changes contribute to thickening of airway walls and consequently lead to airway narrowing, bronchial hyperresponsiveness, airway oedema and mucous hypersecretion. Airway remodelling is associated with a poorer clinical outcome among patients with asthma. Early diagnosis and prevention has the potential to decrease disease severity, to improve control and to prevent disease expression.     

Expression and localization of the thromboxane A2 receptor in human nasal mucosa

Thromboxane A2 (TXA2) has been thought a potent mediator involved in allergic rhinitis, because TXA2 was recovered from the nasal lavage fluid of allergic rhinitis patients after allergen provocation and TXA2 receptor antagonists relief nasal allergic symptoms. In order to clarify the expression of TXA2 receptor in human nasal mucosa, we investigated TXA2 receptor mRNA expression and its protein localization by polymerase chain reaction (PCR) and immunohistochemistry, respectively. Human turbinates were obtained after turbinectomy from 10 patients with nasal obstruction refractory to medical therapy. RT-PCR analysis of total RNA from nasal mucosa demonstrated the expression of TXA2 receptor alpha mRNA. The immunohistochemical studies revealed that anti-TXA2 receptor alpha antibody labeled vascular smooth muscle cells, vascular endothelial cells, epithelial cells and submucosal glands in the nasal mucosa. The results may have an important clinical implication for understanding the role of TXA2 receptor on upper airway diseases such as allergic rhinitis and non-allergic rhinitis.     

Are pre-hospital deaths from accidental injury preventable?

OBJECTIVE--To determine what proportion of pre-hospital deaths from accidental injury--deaths at the scene of the accident and those that occur before the person has reached hospital--are preventable. DESIGN--Retrospective study of all deaths from accidental injury that occurred between 1 January 1987 and 31 December 1990 and were reported to the coroner. SETTING--North Staffordshire. MAIN OUTCOME MEASURES--Injury severity score, probability of survival (probit analysis), and airway obstruction. RESULTS--There were 152 pre-hospital deaths from accidental injury (110 males and 42 females). In the same period there were 257 deaths in hospital from accidental injury (136 males and 121 females). The average age at death was 41.9 years for those who died before reaching hospital, and their average injury severity score was 29.3. In contrast, those who died in hospital were older and equally likely to be males or females. Important neurological injury occurred in 113 pre-hospital deaths, and evidence of airway obstruction in 59. Eighty six pre-hospital deaths were due to road traffic accidents, and 37 of these were occupants in cars. On the basis of the injury severity score and age, death was found to have been inevitable or highly likely in 92 cases. In the remaining 60 cases death had not been inevitable and airway obstruction was present in up to 51 patients with injuries that they might have survived. CONCLUSION--Death was potentially preventable in at least 39% of those who died from accidental injury before they reached hospital. Training in first aid should be available more widely, and particularly to motorists as many pre-hospital deaths that could be prevented are due to road accidents.     

Upper airway neuromuscular compensation during sleep is defective in obstructive sleep apnea

Obstructive sleep apnea is the result of repeated episodes of upper airway obstruction during sleep. Recent evidence indicates that alterations in upper airway anatomy and disturbances in neuromuscular control both play a role in the pathogenesis of obstructive sleep apnea. We hypothesized that subjects without sleep apnea are more capable of mounting vigorous neuromuscular responses to upper airway obstruction than subjects with sleep apnea. To address this hypothesis we lowered nasal pressure to induce upper airway obstruction to the verge of periodic obstructive hypopneas (cycling threshold). Ten patients with obstructive sleep apnea and nine weight-, age-, and sex-matched controls were studied during sleep. Responses in genioglossal electromyography (EMG(GG)) activity (tonic, peak phasic, and phasic EMG(GG)), maximal inspiratory airflow (V(I)max), and pharyngeal transmural pressure (P(TM)) were assessed during similar degrees of sustained conditions of upper airway obstruction and compared with those obtained at a similar nasal pressure under transient conditions. Control compared with sleep apnea subjects demonstrated greater EMG(GG), V(I)max, and P(TM) responses at comparable levels of mechanical and ventilatory stimuli at the cycling threshold, during sustained compared with transient periods of upper airway obstruction. Furthermore, the increases in EMG(GG) activity in control compared with sleep apnea subjects were observed in the tonic but not the phasic component of the EMG response. We conclude that sustained periods of upper airway obstruction induce greater increases in tonic EMG(GG), V(I)max, and P(TM) in control subjects. Our findings suggest that neuromuscular responses protect individuals without sleep apnea from developing upper airway obstruction during sleep.