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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 -
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 -
Journal of Clinical Medicine May 2022The supraclavicular artery island flap (SCAIF) is a reliable, easy-to-harvest and versatile fasciocutaneous flap that can be used for pharynx reconstruction. Instead of... (Review)
Review
The supraclavicular artery island flap (SCAIF) is a reliable, easy-to-harvest and versatile fasciocutaneous flap that can be used for pharynx reconstruction. Instead of free flaps, it requires no microsurgical technique, reduced operating time and postoperative care, making it an ideal option, especially during the COVID-19 pandemic. The primary aim of our study was to present two cases of a total laryngectomy and reconstruction with the SCAIF during the pandemic. The secondary aim was to review the literature concerning surgical techniques, complications and contradictions of the SCAIF for pharynx reconstruction. A literature search was performed using the PubMed, ScienceDirect, Wiley Online Library, Google Scholar, Scopus and Cochrane Library databases, using MeSH terms: larynx AND reconstruction AND flap. Ten full-text articles comprising 92 patients with 93 supraclavicular flaps were included. The patch graft, pharyngeal interposition graft, tubularization or "U"-shaped SCAIF were the main surgical techniques. Pharyngocutaneous fistula was the most frequent postoperative complication, especially in patients with previous radiotherapy, but just 19% of patients required secondary intervention. The lack of donor-site morbidity, low flap loss rates and stenosis rates favored this reconstructive option. This review underlined that the SCAIF has comparable results with other reconstructive options, consolidating this flap in the workhorse of pharynx reconstruction.
PubMed: 35683510
DOI: 10.3390/jcm11113126 -
American Family Physician Jun 2000Dysphagia is a problem that commonly affects patients cared for by family physicians in the office, as hospital inpatients and as nursing home residents. Familiar... (Review)
Review
Dysphagia is a problem that commonly affects patients cared for by family physicians in the office, as hospital inpatients and as nursing home residents. Familiar medical problems, including cerebrovascular accidents, gastroesophageal reflux disease and medication-related side effects, often lead to complaints of dysphagia. Stroke patients are at particular risk of aspiration because of dysphagia. Classifying dysphagia as oropharyngeal, esophageal and obstructive, or neuromuscular symptom complexes leads to a successful diagnosis in 80 to 85 percent of patients. Based on the patient history and physical examination, barium esophagram and/or gastroesophageal endoscopy can confirm the diagnosis. Special studies and consultation with subspecialists can confirm difficult diagnoses and help guide treatment strategies.
Topics: Algorithms; Constriction, Pathologic; Deglutition; Deglutition Disorders; Diagnosis, Differential; Esophagus; Humans; Neuromuscular Diseases; Oropharynx
PubMed: 10892635
DOI: No ID Found -
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 -
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 -
American Journal of Respiratory and... Apr 2012Obstructive sleep apnea in infants has a distinctive pathophysiology, natural history, and treatment compared with that of older children and adults. Infants have both... (Comparative Study)
Comparative Study Review
Obstructive sleep apnea in infants has a distinctive pathophysiology, natural history, and treatment compared with that of older children and adults. Infants have both anatomical and physiological predispositions toward airway obstruction and gas exchange abnormalities; including a superiorly placed larynx, increased chest wall compliance, ventilation-perfusion mismatching, and ventilatory control instability. Congenital abnormalities of the airway, such as laryngomalacia, hemangiomas, pyriform aperture stenosis, choanal atresia, and laryngeal webs, may also have adverse effects on airway patency. Additional exacerbating factors predisposing infants toward airway collapse include neck flexion, airway secretions, gastroesophageal reflux, and sleep deprivation. Obstructive sleep apnea in infants has been associated with failure to thrive, behavioral deficits, and sudden infant death. The proper interpretation of infant polysomnography requires an understanding of normative data related to gestation and postconceptual age for apnea, arousal, and oxygenation. Direct visualization of the upper airway is an important diagnostic modality in infants with obstructive apnea. Treatment options for infant obstructive sleep apnea are predicated on the underlying etiology, including supraglottoplasty for severe laryngomalacia, mandibular distraction for micrognathia, tonsillectomy and/or adenoidectomy, choanal atresia repair, and/or treatment of gastroesophageal reflux.
Topics: Adenoids; Adult; Age Factors; Combined Modality Therapy; Craniofacial Abnormalities; Female; Follow-Up Studies; Humans; Hypertrophy; Incidence; Infant; Laryngomalacia; Larynx; Male; Micrognathism; Palatine Tonsil; Polysomnography; Risk Assessment; Severity of Illness Index; Sleep Apnea, Obstructive; Treatment Outcome
PubMed: 22135346
DOI: 10.1164/rccm.201108-1455CI -
The British Journal of Radiology Dec 2012We review the appearance of scleroma in the head and neck on imaging. Scleroma is a chronic granulomatous disease that primarily affects the nasal cavity, but the... (Review)
Review
We review the appearance of scleroma in the head and neck on imaging. Scleroma is a chronic granulomatous disease that primarily affects the nasal cavity, but the pharynx and larynx may also be involved. On imaging, nasal scleroma appears as bilateral or unilateral expanded homogeneous nasal masses that may exhibit hyperintense signal on T(1) weighted images. Pharyngeal scleroma commonly narrows the pharyngeal lumen and may involve the soft and hard palate. Imaging is essential to detect the extent of subglottic stenosis in patients with laryngeal scleroma. Rarely, scleroma may involve the orbit or the middle ear. Imaging is essential for the early diagnosis of scleroma and for differentiating it from other granulomatous and neoplastic lesions. Also, imaging is important for treatment planning and follow-up of patients after therapy.
Topics: Bone Diseases; Diagnosis, Differential; Ear Diseases; Ear, Middle; Early Diagnosis; Head; Humans; Laryngeal Diseases; Lymphatic Diseases; Mouth Diseases; Neck; Nose Diseases; Orbital Diseases; Pharyngeal Diseases; Rhinoscleroma; Skull Base
PubMed: 22898154
DOI: 10.1259/bjr/15189057 -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Jul 2022Because of its peculiar anatomical location, most patients with hypopharyngeal and cervical esophageal cancer are at advanced stage when they visit the hospital. At...
OBJECTIVES
Because of its peculiar anatomical location, most patients with hypopharyngeal and cervical esophageal cancer are at advanced stage when they visit the hospital. At present, the treatment for hypopharyngeal and cervical esophageal cancer is primarily surgical resection and radiotherapy. However, due to the wide range of surgical resection, it can often lead to a large range of annular defects. Therefore, the upper digestive tract reconstruction after tumor resection is very important. We use the free anterolateral thigh flap (ALT) and free jejunum (FJ) transfer to reconstruct the hypopharyngeal and cervical esophagus, and to investigate the effect of both reconstruction methods on upper gastrointestinal tract defects.
METHODS
A retrospective analysis was conducted to investigate the clinical data of 42 patients with hypopharyngeal and cervical esophageal cancer (Clinical Stage IV) from Jan. 2004 to Jan. 2016 in the Second Xiangya Hospital of Central South University. All patients underwent total laryngopharyngectomy and cervical esophageal resection. The hypopharyngeal circumferential and cervical esophageal defects were reconstructed with free ALT (=22) or FJ (=20). Four patients who underwent radiotherapy and chemotherapy before surgery did not receive radiotherapy or chemotherapy after surgery. The remaining 38 patients underwent postoperative radiotherapy and chemotherapy. All patients were followed up by telephone or outpatient review, with a follow-up deadline in Jan. 2021. We compared the differences between the 2 groups in postoperative complications, radiotherapy complications, and survival rate. The differences in individual characteristics between 2 groups were analyzed using Fisher test. The differences in postoperative and radiotherapy complications between two groups were analyzed using χ² test. The 3- and 5-year overall survival rates were calculated using Kaplan-Meier survival curve method.
RESULTS
In the ALT group, the postoperative complications mainly included anastomotic fistula, chylous fistula and subcutaneous hematoma of the donor site. The radiotherapy complication was anastomotic stenosis. However, in the FJ group, the postoperative complications mainly included chylous fistula, intestinal obstruction, and intestinal fistula. The radiotherapy complications mainly contained anastomotic fistula and tissue flap necrosis. The cases of postoperative complications in the ALT group and the FJ group were 7 and 5, respectively (=0.625), and the cases of radiotherapy complications were 3 and 4, respectively (=0.563). The 3-year overall survival rates in the ALT group and the FJ group were 52.9% and 46.7%, respectively, and the 5-year total survival rates were 35.1% and 31.9%, respectively (=0.53). The cases of anastomotic stenosis after radiotherapy in the ALT group were more than those in the FJ group (=0.097). However, the cases of jejunal necrosis and anastomotic fistula after radiotherapy in the FJ group were more than those in the ALT group (=0.066).
CONCLUSIONS
There are no significant differences in postoperative and radiotherapy complications and 3-and 5-year survival rates between the ALT group and the FJ group. The reconstruction with ALT is prone to develop anastomotic stricture. The reconstruction with FJ cannot withstand high-dose radiotherapy. The ALT and FJ are effective methods in the reconstruction of hypopharynx and cervical esophagus. The treatment protocol should be carefully chosen based on its advantages and disadvantages of these 2 methods.
Topics: Constriction, Pathologic; Esophageal Neoplasms; Fistula; Free Tissue Flaps; Humans; Hypopharynx; Jejunum; Necrosis; Postoperative Complications; Plastic Surgery Procedures; Retrospective Studies; Thigh
PubMed: 36039585
DOI: 10.11817/j.issn.1672-7347.2022.210763