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Genes Sep 2021Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of... (Review)
Review
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the , , and genes. Genetically, the gene contains 27 exons which encodes the Treacle protein. In , over 200 pathogenic variants have been identified, of which most are deletions leading to a frame-shift, that result in the formation of a termination codon. In the presented article, we review the genetics and phenotype of TCS as well as the management and surgical procedures utilized for treatment.
Topics: Choanal Atresia; DNA-Directed RNA Polymerases; Humans; Mandibulofacial Dysostosis; Nuclear Proteins; Phosphoproteins; Syndrome
PubMed: 34573374
DOI: 10.3390/genes12091392 -
The Journal of Laryngology and Otology Jun 2017The pyriform aperture comprises the central area of facial bone structure. It is formed by the free corners of the nasal bone and the frontal processes of the maxillae,... (Review)
Review
BACKGROUND
The pyriform aperture comprises the central area of facial bone structure. It is formed by the free corners of the nasal bone and the frontal processes of the maxillae, which articulate with each other at the nasomaxillary suture lines. Congenital nasal pyriform aperture stenosis might be linked to various craniofacial problems. This review presents all aspects of pyriform aperture stenosis and enlargement.
METHODS
A literature search was conducted. Pyriform aperture definition, nasal development, congenital nasal pyriform aperture stenosis and pyriform aperture enlargement were reviewed.
RESULTS
One of the most common abnormalities is holoprosencephaly, which is a midline developmental deficiency that may also be present in combination with facial clefting. The aetiology of nasal pyriform aperture stenosis remains unclear. When diagnosed, the choice of treatment is between non-surgical and operative methods, depending on the seriousness of the problem. Provided the sufferer can maintain a secure air passage with the help of specialised medical procedures and respiratory tract adjuvants, operative therapy may be delayed.
CONCLUSION
The operative outcomes are extremely good, and the prognosis relies mainly on coexisting neural and endocrine problems. This paper evaluates the nasal pyriform aperture in detail.
Topics: Constriction, Pathologic; Holoprosencephaly; Humans; Infant, Newborn; Maxilla; Nasal Bone; Nasal Obstruction; Pyriform Sinus
PubMed: 28238296
DOI: 10.1017/S0022215117000391 -
Indian Journal of Otolaryngology and... Dec 2022Penetrating neck injuries are defined as injury to the neck associated with breach in the platysmal muscle layer. All penetrating neck injuries are potentially dangerous...
Penetrating neck injuries are defined as injury to the neck associated with breach in the platysmal muscle layer. All penetrating neck injuries are potentially dangerous and require emergency intervention due to its proximity to airway, important blood vessels, nerves and other organs in the neck. A complete evaluation, rapid airway intervention and proper surgical repair are highly essential to prevent complications. Clinical evaluation and management of penetrating neck injuries at a tertiary care hospital. In this study, 66 cases of penetrating neck injuries who presented to the emergency department from October 2018 to September 2020 were included. The particulars of the insult like type of instrument causing injury and zone of injury were compared. An analysis of the management of penetrating neck injury with respect to exploration and wound repair and the need for tracheostomy, vascular repair, esophageal repair, laryngeal framework repair and pharyngeal repair was made. The maximum incidence was observed for the age group between 21 and 30 years. The object causing the maximum number of neck injuries was knife, in 36 cases. The distribution of cases according to zone of injury revealed that the zone II was most commonly affected in 43 cases. The structures injured in the study indicated that platysma was involved in all the cases, followed by thyroid cartilage in 33 cases. Wound exploration and repair was done in all cases and tracheostomy was done in 44 cases. Complications were vocal cord palsy in 19 patients, 15 had tracheal stenosis, 13 had hoarseness of voice, 7 developed pharyngocutaneous fistula and 1 developed pharyngeal stenosis. There were 2 deaths. 16 patients who attempted suicide had depression. All penetrating neck injuries are potentially dangerous and require emergency treatment because of the presence of important vessels, nerves andorgans in the neck. Thorough knowledge of the anatomy of neck, clinical assessment and diagnostic and therapeutic interventions are necessary for appropriate management.
PubMed: 36742685
DOI: 10.1007/s12070-021-02886-1 -
Auris, Nasus, Larynx Aug 2023The COVID-19 omicron variant has a low affinity for the lower respiratory tract. However, upper respiratory tract symptoms, such as nasal discharge and sore throat,...
OBJECTIVES
The COVID-19 omicron variant has a low affinity for the lower respiratory tract. However, upper respiratory tract symptoms, such as nasal discharge and sore throat, characterize the infection with this variant. Therefore, in laryngeal stenosis, disease severity assessment through blood oxygen saturation has not been useful.
METHODS
We report the case of "omicron laryngitis" in a 59-year-old male who visited the ear, nose, and throat (ENT) clinic with complaints of a sore throat and difficulty in swallowing saliva that persisted for a day.
RESULTS
Laryngoscopy revealed severe swelling of the transglottic region and exudates on the larynx. He was then diagnosed with COVID-19 and subjected to emergency tracheostomy for airway management. Until the emergence of the omicron variant, COVID-19 showed mainly lower airway and mild upper airway inflammatory features. However, upper airway stenosis should be suspected in cases presenting with "muffled speech," "dysphagia," "severe pain on swallowing," and "inspiratory dyspnea or stridor."
CONCLUSION
Therefore, laryngeal and pharyngeal evaluation using a flexible laryngoscope under appropriate infection control measures is necessary, considering the possibility of progression to fatal laryngeal stenosis, as noted in this case.
Topics: Male; Humans; Middle Aged; Laryngitis; Laryngostenosis; COVID-19; SARS-CoV-2; Pharyngitis
PubMed: 36114072
DOI: 10.1016/j.anl.2022.08.007 -
Clinical and Experimental Rheumatology Sep 2022Pharyngeal scarring stenosis is a rare yet very severe complication in Behçet's disease (BD). Previously, such patients had to undergo tracheostomy for life, which...
OBJECTIVES
Pharyngeal scarring stenosis is a rare yet very severe complication in Behçet's disease (BD). Previously, such patients had to undergo tracheostomy for life, which seriously affected the patient's speech and swallowing function. We aim to present the effect of pharyngeal reconstructive surgeries using flaps for severe pharyngeal stenosis in BD.
METHODS
The medical history, the surgical procedures of reconstruction and the clinical outcomes of BD cases with pharyngeal stenosis were analysed. British Medical Research Council questionnaire (MRC), Chinese version of the Swallowing Quality-of-Life Questionnaire (SWQOL), the dysphagia score (DS) and the penetration-aspiration scale (PAS) based on videofluoroscopic swallowing study were used.
RESULTS
Six BD cases with pharyngeal stenosis underwent reconstructive operations. Submental island flaps and forearm free flaps were used in reconstructive procedures in three female and three male patients, respectively. All patients successfully removed the tracheotomy cannula and nasal feeding tube after reconstruction. Dyspnoea was significantly relived as MRC scores decreased from 3 (3-4) to 1 (1-2) (p=0.020, Z=-2.333). SWQOL scores were remarkably improved from 782.5 (657.0-854.0) to 826.5 (768.0-864.0) (p=0.027, Z=-2.207). There was non-significant decrease in DS (from 2.5 to 1.5, p=0.066, Z=-1.841) and increase in PAS (from 1 to 1.5, p=0.317, Z=-1.000).
CONCLUSIONS
Reconstructive surgery using flaps is an effective and safe approach to rebuild pharyngeal cavity in BD patients with severe pharyngeal stenosis, which can improve the quality of life of these patients.
Topics: Behcet Syndrome; Constriction, Pathologic; Deglutition Disorders; Female; Humans; Male; Quality of Life; Plastic Surgery Procedures; Retrospective Studies
PubMed: 35916295
DOI: 10.55563/clinexprheumatol/iec6ff -
Wiley Interdisciplinary Reviews.... Jan 2019Proper craniofacial development in vertebrates depends on growth and fusion of the facial processes during embryogenesis. Failure of any step in this process could lead... (Review)
Review
Proper craniofacial development in vertebrates depends on growth and fusion of the facial processes during embryogenesis. Failure of any step in this process could lead to craniofacial anomalies such as facial clefting, which has been well studied with regard to its molecular etiology and cellular pathogenesis. Nasal cavity invagination is also a critical event in proper craniofacial development, and is required for the formation of a functional nasal cavity and airway. The nasal cavity must connect the nasopharynx with the primitive choanae to complete an airway from the nostril to the nasopharynx. In contrast to orofacial clefts, defects in nasal cavity and airway formation, such as choanal atresia (CA), in which the connection between the nasal airway and nasopharynx is physically blocked, have largely been understudied. This is also true for a narrowed connection between the nasal cavity and the nasopharynx, which is known as choanal stenosis (CS). CA occurs in approximately 1 in 5,000 live births, and can present in isolation but typically arises as part of a syndrome. Despite the fact that CA and CS usually require immediate intervention, and substantially affect the quality of life of affected individuals, the etiology and pathogenesis of CA and CS have remained elusive. In this review I focus on the process of nasal cavity development with respect to forming a functional airway and discuss the cellular behavior and molecular networks governing this process. Additionally, the etiology of human CA is discussed using examples of disorders which involve CA or CS. This article is categorized under: Signaling Pathways > Cell Fate Signaling Comparative Development and Evolution > Model Systems Birth Defects > Craniofacial and Nervous System Anomalies.
Topics: Choanal Atresia; Constriction, Pathologic; Craniofacial Abnormalities; Embryonic Development; Humans; Nasal Cavity; Nasopharynx; Signal Transduction
PubMed: 30320458
DOI: 10.1002/wdev.336 -
Journal of Medical Ultrasonics (2001) Oct 2022Point-of-care ultrasound (POCUS) in the head and neck region plays a particularly significant role in the diagnosis and treatment of upper airway stenosis, swelling, and... (Review)
Review
Point-of-care ultrasound (POCUS) in the head and neck region plays a particularly significant role in the diagnosis and treatment of upper airway stenosis, swelling, and painful diseases in the neck, and in the evaluation of swallowing function. Therefore, it should be performed in various medical settings beyond the boundaries of the clinical department such as general medicine, emergency medicine, anesthesiology, orthopedics, and pediatrics. The target diseases are salivary gland disease, lymph node disease, pharyngeal disease, laryngeal disease, esophageal disease, thyroid disease, and dysphagia and dyspnea due to various causes. Head and neck POCUS is an extremely useful diagnostic method for both patients and doctors, and its use is expected to become more widespread in the future.
Topics: Humans; Child; Point-of-Care Systems; Neck; Ultrasonography; Head; Dyspnea
PubMed: 36284028
DOI: 10.1007/s10396-022-01266-8 -
American Journal of Otolaryngology 2023Nasopharyngeal stenosis (NPS) is a rare and morbid complication following radiation therapy for nasopharyngeal carcinoma. This review provides an update on management... (Review)
Review
INTRODUCTION
Nasopharyngeal stenosis (NPS) is a rare and morbid complication following radiation therapy for nasopharyngeal carcinoma. This review provides an update on management and prognosis.
METHODS
A comprehensive PubMed review using the terms "nasopharyngeal stenosis," "choanal stenosis," and "acquired choanal stenosis" was performed.
RESULTS
Fourteen studies identified 59 patients who developed NPS after radiotherapy for NPC. 51 patients underwent endoscopic nasopharyngeal stenosis excision by cold technique (80-100% success). The remaining 8 underwent carbon dioxide (CO) laser excision with balloon dilation (40-60% success). Adjuvant therapies included postoperative topical nasal steroids in 35 patients. The need for revision was 62% in the balloon dilation group, vs 17% in the excision group (p-value <0.01).
CONCLUSION
When NPS occurs after radiation, primary excision of scarring is the most effective method of management with less need for revision surgery relative to balloon dilation.
Topics: Humans; Nasopharyngeal Carcinoma; Nasopharyngeal Neoplasms; Constriction, Pathologic; Nasopharynx; Nasopharyngeal Diseases; Treatment Outcome
PubMed: 36878173
DOI: 10.1016/j.amjoto.2023.103819 -
Oral Oncology Apr 2022To compare the functional outcomes of different reconstructive techniques for circumferential pharyngeal reconstruction. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To compare the functional outcomes of different reconstructive techniques for circumferential pharyngeal reconstruction.
METHODS
A comprehensive electronic search was performed on PubMed/MEDLINE, Cochrane Library, and Google Scholar databases. Retrospective and prospective studies were included. Two independent reviewers extracted thirty-four studies after applying the eligibility criteria. An arm-based network analysis was conducted using a Bayesian hierarchical model. The main outcomes were pharyngo-cutaneous fistula (PCF) incidence, stenosis incidence and feeding tube dependence (FTD) incidence. Network estimates from outcome variables were presented as absolute risks, odds ratio [OR] with 95% credible intervals (CIs), and ranking probability.
RESULTS
A total of 1357 patients were included for 5 different interventions (tubed pectoralis muscle myocutaneous flap, t-PMMCF; tubed anterolateral tight flap, t-ALTF; tubed radial forearm free flap, t-RFFF; free jejunal flap, FJF; U-shaped pectoralis muscle myocutaneous flap, u-PMMCF). FJF showed a 92.8% chance of ranking first in terms of pharyngo-cutaneous fistula prevention (absolute risk: 10%), while the highest PCF incidence (42%) was measured for t-PMMCF. u-PMMCF showed the lowest absolute risk (11%) of stenosis incidence (62.2% chance of ranking first). t-PMMCF (5%), FJF (8%), and u-PMMCF (8%) showed similar results in terms of feeding tube dependence, with a 53.2%, 23.1% and 18.9% chance of ranking first, respectively.
CONCLUSIONS
FJF seems to be the best reconstructive choice after total laryngo-pharyngectomy in terms of PCF, stenosis and FTD incidence. If this reconstructive method is not feasible, a u-PMMCF should be favored over tubed free and pedicled flaps. Further comparative studies are needed to confirm these results.
Topics: Bayes Theorem; Free Tissue Flaps; Humans; Laryngectomy; Network Meta-Analysis; Pharyngectomy; Postoperative Complications; Prospective Studies; Plastic Surgery Procedures; Retrospective Studies
PubMed: 35298936
DOI: 10.1016/j.oraloncology.2022.105809 -
The Laryngoscope Mar 2021Radiotherapy of head and neck cancer (HNCA) causes dysfunction through radiation-induced fibrosis (RIF). We hypothesize that the degree of cervical fibrosis is...
OBJECTIVE
Radiotherapy of head and neck cancer (HNCA) causes dysfunction through radiation-induced fibrosis (RIF). We hypothesize that the degree of cervical fibrosis is associated with swallowing dysfunction. This study evaluated the association between cervical fibrosis and swallowing dysfunction in patients after radiation therapy for HNCA.
STUDY DESIGN
Cross sectional study.
METHODOLOGY
A convenience sample of patients with dysphagia who were at least 1 year post radiation therapy for HNCA underwent simultaneous cervical ultrasound (US) and video-fluroscopic swallow study (VFSS). US determinants of fibrosis were measurements of sternocleidomastoid fascia (SCMF) thickness bilaterally at the level of the cricoid. Primary and secondary outcome variables on VFSS were pharyngeal constriction ratio, a validated measure of pharyngeal contractility, and penetration aspiration scale (PAS). A qualitative assessment of lateral neck rotation was performed as a functional measure of neck fibrosis.
RESULTS
Simultaneous cervical US and VFSS examinations were performed on 18 patients with a history of radiotherapy for HNCA and on eight controls. The mean (±SD) age of the entire cohort (N = 26) was 66 (±10) years. Individuals with a history of radiation had significantly thinner mean SCMF (0.26 [±0.04 mm]) compared to controls (0.48 [±0.06 mm]; P < .05). Individuals with thinner SCMF were more likely to have moderate to severe restriction in lateral neck rotation, a higher PCR, and a higher PAS (P < .05).
CONCLUSION
Thinner sternocleidomastoid fascia on ultrasound in patients having undergone radiotherapy for head and neck cancer was associated with reduced lateral neck movement, poorer pharyngeal constriction and greater penetration/aspiration scale. The data suggest that cervical fibrosis is associated with swallowing dysfunction in head and neck cancer survivors and support the notion that, "As the neck goes, so does the swallow."
LEVEL OF EVIDENCE
3. Laryngoscope, 131:548-552, 2021.
Topics: Aged; Cross-Sectional Studies; Deglutition; Deglutition Disorders; Esophageal Stenosis; Female; Fibrosis; Fluoroscopy; Head and Neck Neoplasms; Humans; Male; Middle Aged; Neck; Radiation Injuries; Severity of Illness Index
PubMed: 32628787
DOI: 10.1002/lary.28880