Obstructive sleep apnea (OSA) is frequently present in patients with syndromic craniosynostosis. The aim of this study is to determine the long-term effectiveness of our OSA treatment protocol in our ...tertiary center in a cohort of children with syndromic craniosynostosis.
Children with syndromic craniosynostosis born between January 2005 and December 2013 were eligible for inclusion (n = 114). Data from ambulatory and inhospital polysomnographies were used. The obstructive-apnea/hypopnea index was used for OSA classification.
Polysomnographies were performed in 83 patients. Mild OSA was diagnosed in 19, moderate in six, and severe in seven children. Of the 32 patients with OSA, 12 patients (37.5%) initially received expectant care of which OSA resolved spontaneously in nine without recurrence. Twenty patients were surgically treated. Adenotonsillectomy (ATE) had a 90% success rate with no OSA recurrence. Monobloc surgery was performed in four patients with mild OSA, although not OSA-indicated. Monobloc was performed for moderate or severe OSA in six patients, in four patients in combination with ATE and with mandibular distraction in one. Monobloc surgery for moderate or severe OSA had a 100% success rate in treating OSA and decannulation.
Expectant care is often sufficient to resolve mild OSA in patients with syndromic craniosynostosis, and should also be considered in patients with moderate OSA with close follow-up. ATE has an important role in the OSA treatment protocol. Monobloc surgery, combined with mandibular distraction on indication, is effective in resolving moderate to severe OSA with a stable long-term result.
Pathogenic germline variants in
ransient
eceptor
otential
anilloid 4
ation
hannel (
) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in ...neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in
, at Met713.
Here we report two unrelated women with a de novo germline p.Leu619Pro
variant and an overlapping systemic disorder affecting all organs individually described in TRPV4 channelopathies.
From an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the
p.Leu619Pro variant was present at a lower frequency (variant allele frequency (VAF)=21.6%) than expected for a heterozygous variant as seen in the other proband, and showed variable regional frequency in the GCLJ (VAF ranging from 42% to 10%). In silico structural analysis suggests that the gain-of-function p.Leu619Pro alters the ion channel activity leading to constitutive ion leakage.
Our findings define a novel polysystemic syndrome due to germline
p.Leu619Pro and further extend the spectrum of
channelopathies. They further highlight the convergence of
mutations on different organ systems leading to complex phenotypes which are further mitigated by possible post-zygotic mosaicism. Treatment of this disorder is challenging, and surgical intervention of the GCLJ worsens the lesions, suggesting the future use of MEK inhibitors and TRPV4 antagonists as therapeutic modalities for unmet clinical needs.
Objectives/Hypothesis
Otolaryngology instructional videos available online are often of poor quality. The objective of this article was to establish international consensus recommendations for the ...production of educational surgical videos in otolaryngology.
Study Design
DELPHI survey.
Methods
Twenty‐seven international respondents participated in this study from 12 countries. Consensus was reached after three rounds of questionnaires following the Delphi methodology. The proposals having reached the 80% agreement threshold in the third round were retained.
Results
The main recommendations are as follows: 1) Ethics: patients must be anonymized and unrecognizable (apart from plastic surgery if necessary). A signed authorization must be obtained if the person is recognizable. 2) Technical aspects: videos should be edited and in high‐definition (HD) quality if possible. Narration or subtitles and didactic illustrations are recommended. 3) Case presentation: name of pathology and procedure must be specified; the case should be presented with relevant workup. 4) Surgery: surgical procedures should be divided into several distinct stages and include tips and pitfalls. Pathology should be shown if relevant. Key points should be detailed at the end of the procedure. 5) Organ‐specific: type of approach and bilateral audiometry should be specified in otology. Coronal plane computed tomography scans should be shown in endonasal surgery. It is recommended to show pre‐ and postoperative videos in voice surgery and preoperative drawings and photos of scars in plastic surgery, as well as the ventilation method in airway surgery.
Conclusions
International recommendations have been determined to assist in the creation and standardization of educational surgical videos in otolaryngology and head and neck surgery.
Level of Evidence
5 Laryngoscope, 131:E732–E737, 2021
The purpose of this study was to acquire normative data on central airway dimensions on chest CT scans in the pediatric population.
Chest CT findings reported as normal by a radiologist were ...collected retrospectively at 10 international centers. An experienced and independent thoracic radiologist reevaluated all CT scans for image quality and for normal findings. Semiautomated image analysis was performed to measure dimensions of the trachea and right and left main bronchi at inspiration. Intrathoracic tracheal length was measured from carina to thorax inlet. Cross-sectional area and short and long axes were measured perpendicular to the longitudinal airway axis starting from the carina every centimeter upward for the trachea and every 0.5 cm downward for the main bronchi. The effects on airway diameters of age, sex, intrathoracic tracheal length, and distance from the carina were investigated by use of mixed-effects models analysis.
Among 1160 CT scans collected, 388 were evaluated as normal by the independent radiologist with sufficient image quality and adequate inspiratory volume level. Central airways were successfully semiautomatically analyzed in 294 of 388 CT studies. Age, sex, intrathoracic tracheal length, and distance from carina were all significant predictors in the models for tracheal and right and left main bronchial diameters (p < 0.001). The central airway dimensions increased with age up to 20 years, and dimensions were larger in male than in female adolescents.
Normative data were determined for the central airways of children and adolescents. Central airway dimensions depended on distance from the carina and on intrathoracic tracheal length.
Objective
To reflect upon our non-surgical respiratory management by evaluating clinical outcomes regarding airway, feeding, and growth during the first year of life in patients with Robin Sequence.
...Design
Prospective study.
Setting
Sophia Children's Hospital, Rotterdam, the Netherlands.
Patients/ Participants
36 patients with Robin Sequence who were treated between 2011 and 2021.
Interventions
Positional therapy and respiratory support.
Main Outcome Measure(s)
Data on respiratory outcomes included polysomnography characteristics and capillary blood gas values. Feeding outcomes were based on the requirement of additional tube feeding. Outcomes on growth were expressed as standard-deviation-scores (SDS) for weight-for-age (WFA) and height-for-age (HFA).
Results
Twenty patients were treated with positional therapy (PT), whilst the other 16 patients required respiratory support. Twenty-two patients presented with non-isolated Robin Sequence (RS). During the first year of life, obstructive apnea hypopnea index decreased, oxygen levels enhanced, and capillary blood gas values improved. Eighty-six percent (31/36) experienced feeding difficulties, which completely resolved in 71% (22/31) during their first year of life. From start treatment, to stop treatment, to the age of 1 year, the SDS WFA worsened from −0.40 to −0.33 to −1.03, respectively.
Conclusions
Non-surgical respiratory treatment resulted in an improvement of respiratory outcomes to near normal during the first year of life in patients with RS. These patients often experience feeding difficulties and endure impaired weight gain up to 1 year of age, despite near normalization of breathing. The high prevalence of feeding difficulties and impaired weight for age indicate the urgency for early recognition and adequate treatment to support optimal growth.
Objectives/Hypothesis
Dysphonia is a common problem at long‐term follow‐up after airway surgery for laryngotracheal stenosis (LTS) with major impact on quality of life. Dysphonia after LTS can be ...caused by scar tissue from initial stenosis along with anatomical alterations after surgery. There is need for a modality to noninvasively image structure and function of the reconstructed upper airways including the vocal cords to assess voice outcome and possible treatment after LTS. Our objective was to correlate vocal cord structure and function of patients after airway reconstruction for LTS on static and dynamic magnetic resonance imaging (MRI) to voice outcome.
Study Design
Prospective cohort study.
Methods
Voice outcome was assessed by voice questionnaires ((pediatric) Voice Handicap Index (p)VHI)) and the Dysphonia Severity Index (DSI). Postsurgical anatomy, airway lumen, and vocal cord thickness and movement on multiplanar static high‐resolution MRI and dynamic acquisitions during phonation was correlated to voice outcome.
Results
Forty‐eight patients (age 14.4 (range 7.5–30.7) years) and 11 healthy volunteers (15.9 (8.2–28.8) years) were included. Static MRI demonstrated vocal cord thickening in 80.9% of patients, correlated to a decrease in DSI (expected odds 0.75 C.I. 0.58–0.96 P = .02). Dynamic MRI showed impaired vocal cord adduction during phonation in 61.7% of patients, associated with a lower DSI score (0.65 C.I. 0.48–0.88 P = .006).
Conclusions
In LTS patients, after airway reconstruction MRI can safely provide excellent structural and functional detail of the vocal cords correlating to DSI, with further usefulness expected from technical refinements. We therefore suggest MRI as a tool for extensive imaging during LTS follow‐up.
Level of evidence
3 Laryngoscope, 131:E2402–E2408, 2021
In patients with mandibular hypoplasia, mandibular distraction osteogenesis (MDO) aims to relieve tongue-based airway obstruction. Drug-induced sleep endoscopy (DISE) provides a dynamic assessment of ...the upper airway and visualizes anatomical site and cause of airway obstruction. The aim of this study was to evaluate the effect of MDO on tongue-based airway obstruction found by DISE within a non-isolated patient population with severe upper airway obstruction (UAO). Furthermore, we aimed to assess the additional value of DISE in clinical decision making by correlating DISE findings to functional airway outcomes after MDO.
Findings on DISE in children who underwent MDO were retrospectively gathered and evaluated. According to DISE findings, severity of tongue-based obstruction was scored using a 4-step classification similar to the one that is used by Bravo et al.. Intubation conditions were scored according to the Cormack Lehane score (CLS). Pre-and postoperative DISE findings were compared and correlated with functional airway outcomes following MDO.
In 19 out of 28 MDO procedures, both a pre-and postoperative DISE was available. Tongue-based obstruction scores improved in 13 procedures, which correlated to a functional improvement in seven. Postoperative tongue-based obstruction differed significantly between patients with successful MDO and patients treated unsuccessfully (2.00 ((Interquartile range (IQR) 1.00–2.00) vs. 3.00 (IQR 2.00–4.00), p = 0.028), whereas this difference was not significant for the CLS (1.00 (IQR 1.00–1.50) vs. 2.00 (IQR 1.00–4.00), p = 0.066). If no improvement of tongue-based obstruction was seen, MDO is very unlikely to be successful on the functional airway.
DISE provides information on the site and nature of airway obstruction and can visualize the effect of MDO on the severity of tongue-based airway obstruction. Therefore, it can be of additional value in understanding the differences in functional airway outcomes after MDO and aids in deciding appropriate and targeted treatment. Hence, standardized use of DISE, in addition to the clinical assessment of mandibular position and a polysomnography, during MDO management is highly recommended.
•Sleep endoscopy is valuable in evaluating effectiveness of mandibular distraction.•Improvement of tongue-based airway does not guarantee successful clinical outcome.•Mandibular distraction does not always result in an improved oropharyngeal airway.•Sleep endoscopy performance during mandibular distraction is highly recommended.
Surgery for Ménière's disease Pullens, Bas; Giard, Johan Lodewijk; Verschuur, Hendrik P ...
Cochrane database of systematic reviews,
2010-Jan-20
1
Journal Article
Recenzirano
Ménière's disease is characterised by three major symptoms: vertigo, deafness, and tinnitus or aural fullness, all of which are discontinuous and variable in intensity. A number of surgical ...modalities, of varying levels of invasiveness, have been developed to reduce the symptoms of Ménière's disease, but it is not clear whether or not these are effective.
To assess the effectiveness of surgical options for the treatment of Ménière's disease. All surgical interventions used in the treatment of Ménière's disease, either to alter the natural history of the disease or to abolish vestibular function, were considered for this review.
We searched the Cochrane Ear, Nose and Throat Disorders Group Trials Register; the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; CINAHL; Web of Science; BIOSIS Previews; Cambridge Scientific Abstracts; mRCT and additional sources for published and unpublished trials. The date of the most recent search was 25 February 2009.
Randomised or quasi-randomised controlled studies of a surgical modality versus a placebo therapy in Ménière's disease.
Two authors independently assessed trial quality and extracted data. Study authors were contacted for further information.
The only surgical intervention which has been evaluated in randomised controlled trials and met the inclusion criteria was endolymphatic sac surgery. We identified two randomised trials, involving a total of 59 patients; one comparing endolymphatic sac surgery with ventilation tubes and one with simple mastoidectomy. Neither study reported any beneficial effect of surgery either in comparison to placebo surgery or grommet insertion.
The two trials included in this review provide insufficient evidence of the beneficial effect of endolymphatic sac surgery in Ménière's disease.
Background
Magnetic Resonance Imaging (MRI) techniques to image the larynx have evolved rapidly into a promising and safe imaging modality, without need for sedation or ionizing radiation. MRI is ...therefore of great interest to image pediatric laryngeal diseases. Our aim was to review MRI developments relevant for the pediatric larynx and to discuss future imaging options.
Methods
A systematic search was conducted to identify all morphological and diagnostic studies in which MRI was used to image the pediatric larynx, laryngeal disease, or vocal cords.
Results
Fourteen articles were included: three studies on anatomical imaging of the larynx, two studies on Diffusion Weighted Imaging, four studies on vocal cord imaging and five studies on the effect of anaesthesiology on the pediatric larynx. MRI has been used for pediatric laryngeal imaging since 1991. MRI provides excellent soft tissue contrast and good visualization of vascular diseases such as haemangiomas. However, visualization of cartilaginous structures, with varying ossification during childhood, and tissue differentiation remain challenging. The latter has been partly overcome with diffusion weighted imaging (DWI), differentiating between benign and malignant masses with excellent sensitivity (94‐94.4%) and specificity (91.2‐100%). Vocal cord imaging evolved from static images focused on vocal tract growth to dynamic images able to detect abnormal vocal cord movement.
Conclusion
MRI is promising to evaluate the pediatric larynx, but studies using MRI as diagnostic imaging modality are scarce. New static and dynamic MR imaging techniques could be implemented in the pediatric population. Further research on imaging of pediatric laryngeal diseases should be conducted.
Aims
We aimed to compare the pharmacokinetics (PK) and safety profile of tobramycin inhalation solution (TIS) using the I‐neb device to the standard PARI‐LC Plus nebulizer in children with cystic ...fibrosis.
Methods
A randomized, open‐label, crossover study was performed. In 2 separate study visits, blood samples from 22 children were collected following TIS nebulization with I‐neb (75 mg) and PARI‐LC Plus (300 mg). Study visits were separated by 1 month, in which 1 of the study nebulizers was used twice daily. Tobramycin PK for both nebulizers was established using measured tobramycin concentrations and Bayesian PK modelling software. Hearing and renal function tests were performed to test for aminoglycoside associated toxicity. In addition to standard estimated glomerular filtration rate values, biomarkers for tubular injury (KIM‐1 and NAG) were measured. Patient and nebulizer satisfaction were assessed.
Results
Inhalations were well tolerated and serum trough concentrations below the predefined toxic limit were reached with no significant differences in PK parameters between nebulizers. Results of audiometry and estimated glomerular filtration rate revealed no abnormalities. However, increased urinary NAG/creatinine ratios at visit 2 for both nebulizers suggest TIS‐induced subclinical tubular kidney injury. Nebulization time was 50% shorter and patient satisfaction was significantly higher with the I‐neb.
Conclusions
Nebulization of 75 mg TIS with the I‐neb in children with cystic fibrosis resulted in comparable systemic exposure to 300 mg TIS with the PARI‐LC Plus and was well tolerated and preferred over the PARI‐LC Plus. Long‐term safety of TIS nebulization should be monitored clinically, especially regarding the effects on tubular kidney injury.
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