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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 -
Oral Oncology Oct 2021Severe pharyngeal stricture is an uncommon complication that may occur afer laryngectomy especially in irradiated patients. Its management is a challenge and high risk...
Severe pharyngeal stricture is an uncommon complication that may occur afer laryngectomy especially in irradiated patients. Its management is a challenge and high risk of recurrence after reconstruction exists. We present two patients with severe end-stage pharyngoesophageal stricture after several failed attempts of reconstruction with regional and free flaps, in which a right colon transposition was performed. Twenty days after surgery both patients were able to tolerate an oral diet, and no minor or major complications were observed. Right colonic transposition may be a valid option for secondary pharyngeal reconstruction if other less invasive methods such as regional or free flaps have failed to restore the pharyngoesophageal continuity or if the inferior location of stricture makes a tension free anastomosis impossible.
Topics: Constriction, Pathologic; Free Tissue Flaps; Head and Neck Neoplasms; Humans; Laryngectomy; Pharyngeal Diseases; Plastic Surgery Procedures
PubMed: 34482214
DOI: 10.1016/j.oraloncology.2021.105481 -
Cirugia Y Cirujanos 2021Este estudio tuvo como objetivo describir los resultados clínicos del colgajo anterolateral de muslo y radial de antebrazo, para la reconstrucción hipofaríngea y...
OBJETIVO
Este estudio tuvo como objetivo describir los resultados clínicos del colgajo anterolateral de muslo y radial de antebrazo, para la reconstrucción hipofaríngea y esofágica en un hospital de cuarto nivel en Bogotá, Colombia.
MÉTODOS
Estudio retrospectivo inlcuyo 38 pacientes a los que se les realizó reconstrucción funcional esofágica con colgajo de antebrazo radial o anterolateral de muslo (ALT) entre febrero de 2010 y diciembre de 2017.
RESULTADOS
Edad media fue de 51 años. El 80% genero femeninp. Los defectos laringoesofágicos estuvieron presentes en el 80%. Se requirió reconstrucción circunferencial total en el 60% de los pacientes. Se realizaron injertos braquio-radiales en el 26% y colgajos anterolaterales de muslo en el 74%. La tasa global de complicaciones tempranas fue del 30%, de las cuales el 20% fueron fístulas (braquio-radial, 2,8%; colgajo libre de ALT, 8,3%). Las complicaciones tardías (20%) incluyeron estenosis y obstrucción de la luz del injerto distal. Solo el 10% de los pacientes no pudieron tolerar la alimentación oral y el 50% de este paciente necesitó gastrostomía permanente. En cuanto al seguimiento oncológico durante el postoperatorio de 24 meses, no se observó recidiva tumoral.
CONCLUSIÓN
Los resultados funcionales de la reconstrucción con colgajo braquio-radial y ALT fueron satisfactorios. Nuestros hallazgos sugieren que la ALT tiene una menor incidencia de complicaciones posoperatorias que el colgajo radial de antebrazo. La elección del tipo de colgajo dependerá del tamaño y la ubicación del defecto. Los defectos pequeños y parcialmente cubiertos se benefician del uso de un colgajo radial, y para reconstrucciones faríngeas más grandes y circunferenciales con posibles requisitos de radioterapia, se benefician de un colgajo ALT.
OBJECTIVE
This study aimed to describe clinical outcomes of anterolateral thigh (ALT) and radial forearm flap in hypopharyngeal and esophageal reconstruction in a fourth level hospital in Bogotá, Colombia.
METHODS
This retrospective study included 38 patients who esophageal functional reconstruction using radial forearm or ALT flap at our center between February 2010 and December 2017.
RESULTS
Mean age was 51 years. About 80% of the included patients were females. Laryngoesophageal defects were present in 80%. Total circumferential reconstruction was required in 60% of patients. Brachial-radial grafts were performed in 26% and anterolateral thigh flaps in 74%. Overall, early complication rate was 30%, which 20% were fistulae (brachial-radial, 2.8%; ALT free flap, 8.3%). Late complications (20%) included stenosis and distal graft lumen obstruction. Only 10% of patients were unable to tolerate oral feeding and 50% of this patient needed permanent gastrostomy. Regarding oncological follow-up during the 24-month post-operative, no tumor recurrence was observed.
CONCLUSIONS
Functional outcomes of reconstruction with brachial-radial and ALT flap were satisfying. Our findings suggest that ALT has a lower incidence of post-operative complications than radial forearm flap. The choice of the type of flap will depend on the size and location of the defect. Small and partially covered defects benefit from the use of a radial flap, and for larger and circumferential pharyngeal reconstructions with possible radiotherapy requirements, they benefit from an ALT flap.
Topics: Colombia; Female; Forearm; Humans; Middle Aged; Rectal Neoplasms; Retrospective Studies; Thigh
PubMed: 34352861
DOI: 10.24875/CIRU.20000546 -
Journal of the American Veterinary... Jul 2021A 3-year-old 17.5-kg (38.5-lb) mixed-breed dog was referred for evaluation because of nasal discharge, sneezing, and signs of nasal congestion of approximately 9 months'...
CASE DESCRIPTION
A 3-year-old 17.5-kg (38.5-lb) mixed-breed dog was referred for evaluation because of nasal discharge, sneezing, and signs of nasal congestion of approximately 9 months' duration. A diagnosis of nasopharyngeal stenosis (NPS) was made prior to referral.
CLINICAL FINDINGS
Sneezing, bilateral mucopurulent nasal discharge, reduced nasal airflow, stertor, and increased inspiratory effort were noted on physical examination. Results of serum biochemical analysis were within respective reference ranges. Review of CT images of the skull revealed findings consistent with severe bilateral partial osseous choanal atresia and NPS. Retrograde rhinoscopy confirmed membranous NPS.
TREATMENT AND OUTCOME
A ventral rhinotomy was performed; communication between the pharynx and nasal passageway was reestablished by surgical debridement of the caudal border of the palatine bone and vomerine crest and groove, followed by dissection of the membranous NPS and reconstruction of the caudal part of the nasopharynx. A covered nasopharyngeal stent was placed in the newly established nasopharynx. The dog recovered uneventfully but was presented 3 weeks later with recurrent signs; diagnostic findings were consistent with stenosis rostral to the stent. The stenosis was treated with balloon dilation, and a second covered stent was placed rostral to and overlapping the first stent, spanning the stenotic region. Eleven months after this procedure, the dog was doing well.
CLINICAL RELEVANCE
Results for this patient suggested that ventral rhinotomy and covered nasopharyngeal stent placement can be used successfully for the management of osseous choanal atresia in dogs; however, careful attention to preoperative planning and potential complications is necessary.
Topics: Animals; Choanal Atresia; Constriction, Pathologic; Dog Diseases; Dogs; Endoscopy; Nasopharyngeal Diseases; Stents
PubMed: 34227860
DOI: 10.2460/javma.259.2.190 -
The Cleft Palate-craniofacial Journal :... Jun 2022To evaluate the efficacy of a novel surgical technique in management of nasopharyngeal stenosis (NPS), describing its steps and results. : Prospective clinical trial.
OBJECTIVES
To evaluate the efficacy of a novel surgical technique in management of nasopharyngeal stenosis (NPS), describing its steps and results. : Prospective clinical trial.
SETTING
This study was conducted at the Otolaryngology, Head and Neck Surgery Department, Zagazig University.
METHODS
This prospective study was conducted on patients with snoring ± obstructive sleep apnea due to acquired postsurgical NPS of grade Ι and ΙΙ. New surgical repair was employed on the patients and the pre and postoperative results were statistically compared.
RESULTS
The grade of NPS improved significantly postoperatively ( = .00136) throughout a follow-up of 1 year. Postoperatively, there was statistically significant improvement of apnea hypopnea index ( = .0005), Visual Analog Scale (VAS) of nasal obstruction ( < .0001) and VAS of snoring ( < .0001). Dysphagia showed early worsening, but it improved completely at 3 months postoperatively.
CONCLUSION
The utilized novel procedure appears effective, low cost, and easily applicable, and it does not require implants, special tools, or suture materials. Furthermore, it gives excellent results, with negligible pain, and rapid recovery without significant complications.
LEVEL OF EVIDENCE
4.
Topics: Cleft Palate; Constriction, Pathologic; Humans; Palate, Soft; Pharynx; Prospective Studies; Snoring; Treatment Outcome
PubMed: 34155921
DOI: 10.1177/10556656211021702 -
Frontiers in Endocrinology 2021Duplication of the pituitary gland (DPG)-plus syndrome is a very rare developmental disorder with few cases described in the literature and characterized by multiple... (Review)
Review
Duplication of the pituitary gland (DPG)-plus syndrome is a very rare developmental disorder with few cases described in the literature and characterized by multiple midline and central nervous system malformations. The hypothalamus and hypophysis involvement may be clinically associated with endocrine abnormalities. A 5.9-year-old female child was admitted to our Clinic for premature thelarche and acceleration of growth. DPG-plus syndrome with paired infundibula and pituitary glands was diagnosed after birth, when she appeared small for gestational age and she presented with lingual hypoplasia, cleft palate, right choanal stenosis, nasopharyngeal teratoma, and facial dysmorphisms. Neuroimaging revealed a duplication of the infundibula, the pituitary gland, and the dens of the epistropheus despite surgical removal of a rhino-pharyngeal mass performed at the age of two months. An array-CGH revealed a 2p12 deletion. At our evaluation, bone age assessment resulted advanced and initial pubertal activation was confirmed by Gonadotropin-Releasing Hormone stimulation test. Hormonal suppression treatment was started with satisfactory results. This case shows that DPG-plus syndrome must be considered in presence of midline and craniofacial malformations and endocrinological evaluations should be performed for the prompt and appropriate management of pubertal anomalies.
Topics: Abnormalities, Multiple; Child; Craniofacial Abnormalities; Female; Humans; Magnetic Resonance Imaging; Pituitary Diseases; Pituitary Gland; Puberty, Precocious; Syndrome; Tomography, X-Ray Computed; Triptorelin Pamoate
PubMed: 34122353
DOI: 10.3389/fendo.2021.685888 -
Clinical Otolaryngology : Official... Nov 2021Airway reconstruction for laryngotracheal stenosis (LTS) encompasses several procedures. Dysphagia is a well-recognised sequela of LTS and airway surgery, however... (Observational Study)
Observational Study
OBJECTIVES
Airway reconstruction for laryngotracheal stenosis (LTS) encompasses several procedures. Dysphagia is a well-recognised sequela of LTS and airway surgery, however studies have employed mostly non-validated assessments post-operatively in small, heterogenous samples, perpetuating uncertainty around the contributions of LTS and its management to impaired deglutition. Consequently, considerable variation in LTS perioperative nutritional management exists. Our objective was to characterise baseline and post-operative dysphagia with instrumental assessment in an LTS cohort undergoing airway reconstruction and provide a gold-standard management framework for its management.
DESIGN, SETTING, PARTICIPANTS AND MAIN OUTCOME MEASURES
We performed a retrospective cohort study of adult airway reconstruction procedures from 2016-2020 at our quaternary centre. Patient background, LTS aetiology, procedure type, tube feeding duration, length of stay and serial Functional Oral Intake Scale (FOIS) and International Dysphagia Diet Standardisation Initiative (IDDSI) scores were noted. Baseline, post-operative day one and post-stent removal Fibreoptic Endoscopic Evaluation of Swallow (FEES) generated Penetration Aspiration Scale (PAS) scores.
RESULTS
Forty-four patients underwent forty-six reconstructions. Baseline incidence of penetration-aspiration was considerably higher than the general population and worsened in the immediate post-operative period, however FOIS and PAS scores generally returned to baseline by discharge. Post-operative FOIS correlated negatively with tracheostomy or airway stent placement. At discharge, 80% tolerated soft or normal diet and 93% were feeding tube independent.
CONCLUSIONS
We present the largest adult airway reconstruction cohort with instrumental swallow assessment perioperatively. LTS patients have a higher incidence of underlying dysphagia but swallowing tends to return to baseline with appropriate postoperative rehabilitation. Such practice may avoid the complications, costs and morbidity of prolonged nutritional support.
Topics: Adult; Aged; Aged, 80 and over; Cohort Studies; Deglutition Disorders; Female; Humans; Laryngostenosis; Male; Middle Aged; Perioperative Period; Plastic Surgery Procedures; Retrospective Studies; Tracheal Stenosis; Young Adult
PubMed: 34087029
DOI: 10.1111/coa.13820 -
The Laryngoscope Nov 2021Airway access in the setting of unsuccessful ventilation and intubation typically involves emergent cricothyrotomy or tracheotomy, procedures with associated significant...
OBJECTIVES/HYPOTHESIS
Airway access in the setting of unsuccessful ventilation and intubation typically involves emergent cricothyrotomy or tracheotomy, procedures with associated significant risk. The potential for such emergent scenarios can often be predicted based on patient and disease factors. Planned tracheotomy can be performed in these cases but is not without its own risks. We previously described a technique of pre-tracheotomy or exposing the tracheal framework without entering the trachea, as an alternative to planned tracheostomy in such cases. In this way, a tracheotomy can be easily completed if needed, or the wound can be closed if it is not needed. This procedure has since been used in an array of indications. We describe the clinical situations where pre-tracheotomy was performed as well as subsequent patient outcomes.
METHODS
Retrospective series of patients undergoing a pre-tracheotomy from 2015 to 2020. Records were reviewed for patient characteristics, indication, whether the procedure was converted to tracheotomy or closed at the bedside, and any post-procedural complications.
RESULTS
Pre-tracheotomy was performed in 18 patients. Indications included failed extubation after head and neck reconstruction, subglottic stenosis, laryngeal masses, laryngeal edema, thyroid masses, and an oropharyngeal bleed requiring operative intervention. Tracheotomy was avoided in 10 patients with wound closed at the bedside; procedure was converted to tracheotomy in the remaining eight. There were no complications. Indications for conversion included failed extubation, intraoperative hemorrhage, significant stridor with dyspnea, and inability to ventilate.
CONCLUSION
Pre-tracheotomy offers simplified airway access and provides a valuable option in scenarios where tracheotomy may, but not necessarily, be needed.
LEVEL OF EVIDENCE
4 Laryngoscope, 131:E2802-E2809, 2021.
Topics: Adult; Aged; Aged, 80 and over; Airway Extubation; Cervicoplasty; Conversion to Open Surgery; Female; Hemorrhage; Humans; Laryngeal Edema; Laryngeal Neoplasms; Laryngostenosis; Male; Middle Aged; Oropharynx; Postoperative Complications; Preoperative Care; Retrospective Studies; Risk Assessment; Surgical Wound; Thyroid Neoplasms; Trachea; Tracheostomy; Tracheotomy; Wound Closure Techniques
PubMed: 34021601
DOI: 10.1002/lary.29612 -
Medicine May 2021Syncope often occurs in patients with advanced head and neck cancers due to the stimulation of the autonomic nervous system by the tumor. Here, we describe a case of...
RATIONALE
Syncope often occurs in patients with advanced head and neck cancers due to the stimulation of the autonomic nervous system by the tumor. Here, we describe a case of frequent syncopal episodes after laryngopharyngectomy for hypopharyngeal cancer. As all syncopal episodes were observed during the forenoon, we also evaluated the heart rate variability using ambulatory electrocardiography to determine why the syncopal episodes occurred during a specified period of the day.
PATIENT CONCERNS
A 73-year-old Japanese man who underwent laryngopharyngectomy for recurrent hypopharyngeal cancer started experiencing frequent episodes of loss of consciousness that occurred during the same time period (10:00-12:00). He had never experienced syncopal episodes before the operation. From 23 to 41 days postoperatively, he experienced 9 syncopal episodes that occurred regardless of his posture.
DIAGNOSES
Pharyngo-esophagoscopy revealed an anastomotic stricture between the free jejunum graft and the upper esophagus. Swallowing videofluoroscopy confirmed the dilatation of the jejunal autograft and a foreign body stuck on the oral side of the anastomosis. Contrast-enhanced computed tomography revealed that the carotid artery was slightly compressed by the edematous free jejunum. The patient was diagnosed with carotid sinus syndrome (CSS) as the free jejunum was dilated when consuming breakfast, which may have caused carotid sinus hypersensitivity and induced a medullary reflex.
INTERVENTIONS
Administration of disopyramide was effective in preventing syncope. Heart rate variability analysis using ambulatory electrocardiography showed that parasympathetic dominancy shifted to sympathetic dominancy during 10:00 to 12:00. The significant time regularity of the syncopal episodes may have been affected by modified diurnal variation in autonomic tone activity.
OUTCOMES
After the surgical release and re-anastomosis of the pharyngoesophageal stenosis via an open-neck approach, no recurrent episodes of syncope were reported.
LESSONS
We reported a case of frequent syncopal episodes limited to the forenoon due to CSS after surgery for hypopharyngeal carcinoma. The patient was treated with anticholinergics followed by the release and re-anastomosis of the pharyngoesophageal stenosis. When syncope occurs after surgery for head and neck lesions, CSS due to postoperative structural changes should be considered as a differential diagnosis of syncope.
Topics: Aged; Anastomosis, Surgical; Breakfast; Carotid Sinus; Deglutition; Disopyramide; Electrocardiography; Esophageal Stenosis; Esophagus; Humans; Hypopharyngeal Neoplasms; Laryngectomy; Male; Pharyngectomy; Pharynx; Syncope; Syndrome
PubMed: 34011078
DOI: 10.1097/MD.0000000000025959 -
Surgical Endoscopy Apr 2022The management of patients with hypopharyngeal or cervical esophageal refractory benign strictures (RBS) after surgery and radiotherapy ± chemotherapy for laryngeal...
BACKGROUND AND AIMS
The management of patients with hypopharyngeal or cervical esophageal refractory benign strictures (RBS) after surgery and radiotherapy ± chemotherapy for laryngeal cancer is challenging. We aimed to assess the long-term efficacy and safety of a new designed fully covered SEMS in these patients.
METHODS
We reviewed the results of a prospectively collected database of 40 consecutive patients with dysphagia due to RBS of the cervical esophagus or hypopharynx after surgery and radiotherapy with or without chemotherapy for laryngeal cancer, unfit for surgery, referred in two tertiary-care endoscopic centers from June 2005 to December 2018. All of them were treated with placement of a Niti-S Conio cervical stent.
RESULTS
After placement of the first stent, dysphagia improved in all patients. The total number of adverse events was 35 out of a total of 299 procedures (11.7%): 25 (8.4%) stent migrations, 6 (2%) tumor overgrowth, 3 severe pain and 1 pharyngo-cutaneous fistula. Stents were periodically changed. In only one patient with a cervical esophageal stricture the stent was definitively removed after 7 sessions of stent placement because of stricture resolution. Patients were followed-up for a median of 11.6 months and a significant improvement in dysphagia was reported in all patients (p < 0.001).
CONCLUSIONS
The use of this conformable, small caliber new designed Niti-S stent, exchanged periodically, appeared safe and permitted durable oral intake in patients with difficult-to-treat hypopharyngeal or cervical esophagus strictures, avoiding the need for periodic dilations.
Topics: Constriction, Pathologic; Deglutition Disorders; Esophageal Stenosis; Humans; Hypopharynx; Laryngeal Neoplasms; Stents; Treatment Outcome
PubMed: 33903933
DOI: 10.1007/s00464-021-08504-z