Asian Pac J Cancer Prev. 2011; 12(10): 2767-72
Nazir M, Kayani M, Malik FA, Masood N, Kayani MA

Background: Head and neck cancer is included among the top five most commonly prevailing cancers worldwide. Abnormalities of either genetic or epigenetic factors are found responsible for the development and progression of head and neck cancer. Metastasis is the leading cause of death in patients with head and neck cancer. Down regulation of metastasis suppressor genes (MSGs) expression have been frequently observed in advanced tumours. Methodology: The present study was designed to screen two of the most frequently down-regulated MSGs (KISS1and KAI1) for mutations in 120 diagnosed head and neck cancer affected Pakistani patients. The questionnaire was filled for basic information about age, gender, smoking habits and area of cancer affected and other relevant details. Primers for both genes were designed using "Primer 3" software in such a way that both intron exon boundaries were included in this region. DNA isolation and estimation was done by using organic method and agarose gel electrophoresis. Single Strand conformational polymorphism technique was used after amplification of the respective genes. Mobility patterns were analyzed using BioDoc Analyzer. Results: Data of patients were analyzed on the basis of age, sex and type of cancer as variables. The mean age of patients and controls was 44 years. There were 53% females and 47% males in this group of study, 63% nonsmokers and 37% smokers and larynx cancer was found to be most frequent type of cancer with a percentage of 64. Lack of germ line mutation was observed in the entire coding region in both coding regions as well as splice sites of the respective genes. Conclusion: Germ line mutations in KISS1 and KAI1 are thus considered to be a less frequent event in head and neck cancer patients. However, two polymorphisms in intronic region of exon 3 and exon 9 of KAI1 gene were observed in 1% of patients. In non coding region downstream of exon 3 (KAI1), there was a C 29166 T substitution and in intronic region upstream exon 9 of KAI1 gene, a C 52840 A substitution was observed. Both patients were females with ages 47 and 50 years respectively. A detailed analysis of regulatory mechanism is required to explore the genetic basis of down regulation of these MSGs for a better understanding of head and neck cancer progression.

J Voice. 2012 Jan 26;
Cohen SM, Pitman MJ, Noordzij JP, Courey M

OBJECTIVE: To investigate the instruments used by general otolaryngologists to visualize the larynx, assess the perception of the instruments' capabilities, and understand their comfort diagnosing specific etiologies of dysphonia. STUDY DESIGN: Cross-sectional survey. METHODS: One thousand randomly chosen general otolaryngologists from American Academy of Otolaryngology-Head & Neck Surgery were mailed a survey. RESULTS: The response rate was 27.8%. Mean years in practice were 19.5. Mirror and fiberoptic laryngoscopy were most commonly used. Approximately 84.1% used stroboscopy and 33.7% reported laryngoscopy could assess vibration. Respondents were more comfortable diagnosing conditions with obvious laryngeal structural abnormalities compared with those without, such as central neurologic disorders (P≤0.001). Approximately 46.5% were concerned about overdiagnosing laryngopharyngeal reflux (LPR). CONCLUSIONS: Although 84.1% of general otolaryngologists use stroboscopy, one-third may not appreciate the differences between stroboscopy and laryngoscopy. General otolaryngologists are less comfortable diagnosing voice disorders without obvious laryngeal structural abnormalities, and nearly 50% are concerned that they overdiagnose LPR.

Curr Opin Otolaryngol Head Neck Surg. 2012 Jan 24;
Gil Z, Fliss DM

PURPOSE OF REVIEW: This study reviewed the value of cytogenetic information for the diagnosis and assessment of prognosis in patients with skull base tumors. RECENT FINDINGS: Chromosomal aberrations can be tumor-specific or nonspecific, and may often show complex karyotypes with numerous chromosomal deletions and gains. These changes may derive from a step-wise genetic transformation commonly seen in these tumors. Most chromosomal abnormalities of skull base carcinomas involve several clones with complex karyotypes. Chromosomal aberrations found in squamous cell carcinoma and salivary gland carcinomas of the skull base involve similar breakpoints to those found in the carcinomas of the oral cavity, larynx, hypopharynx and nasopharynx. Complex karyotype is the hallmark of chordoma, esthesioneuroblastoma and embryonal rhabdomyosarcoma of the cranial base. In contrast, specific chromosomal translocations are characteristic for Ewing's sarcoma (11;22) and synovial sarcoma (X;18) of the skull base. Olfactory groove meningioma is characterized by breakpoint of chromosome arm 22q11. SUMMARY: The emergent cytogenetic data established the development of diagnostic tests utilizing molecular approaches and allowed the development of various grading systems for assessing the diagnosis and prognosis of patients with cancer.

Eur Arch Otorhinolaryngol. 2011 Dec 25;
Ben Salah R, Marzouk S, Kaddour N, Khabir A, Boudawara T, Bahloul Z

Localized amyloidosis of the tonsil is rare and its management depends on the etiology. We report a case of tonsil amyloidosis and review the characteristics of this exceptional pathology. A 74-year-old man consulted for odynophagia, upper dysphagia and deteriorated general health status, which have been evolving for 1 year. Clinical examination found a smooth swelling of the right palatine tonsil. No further abnormalities were noted. The biopsy findings were consistent with amyloidosis. Etiological assessment pointed to Waldenstrom macroglobulinemia. Tonsillectomy was performed. The patient was managed by chemotherapy associating chlorambucil, vincristine and prednisone. The progress after chemotherapy was good. Localized amyloidosis is a rare lesion of the superior aerodigestive tract, predominating in the larynx and tonsil involvement is exceptional. Its diagnosis is histological and its management depends on the etiology. Continued regular follow-up is necessary to look for recurrence.

Int J Otolaryngol. 2012; 2012: 908154
Oridate N, Tokashiki R, Watanabe Y, Taguchi A, Kawamura O, Fujimoto K

Objective. To know the characteristics of endoscopic laryngeal and pharyngeal abnormalities in Japanese patients with laryngopharyngeal reflux symptoms (LPRS). Methods. A total of 146 endoscopic images of the larynx and pharynx (60 pairs for the rabeprazole group and 13 pairs for the control group) were presented to 15 otolaryngologists blinded to patient information and were scored according to several variables potentially associated with laryngopharyngeal reflux. The median value of the 15 scores for each item from each image was obtained. The mean pretreatment scores of each item and total score were assessed in both rabeprazole and control groups. In the rabeprazole group, the endoscopic findings before and after the 4-week treatment with rabeprazole were compared. Changes between corresponding duration in the control group were also evaluated. Results. The median and mean pretreatment total score was 3 and 3.02, respectively, from the 73 patients with LPRS. No significant differences were observed before and after treatment in either the rabeprazole or control groups for any item or total score. In 24 patients with a high pretreatment score (total score ≥ 4) from the rabeprazole group, significant decreases in scores for "thick endolaryngeal mucous" (0.54 to 0.17, P = 0.017) and total (4.77 to 3.58, P = 0.0003) were observed after the 4-week treatment.

Orphanet J Rare Dis. 2011; 6: 81
Leboulanger N, Garabédian EN

ABSTRACT: A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and therefore on the extent of the LC. Diagnosis is made either based on clinical manifestations or on investigations, such as endoscopy, X-ray, CT scan, performed for other conditions. Differential diagnoses include tracheo-bronchial fistula, gastro-esophageal reflux disease and neurological swallowing disorders, as well as laryngomalacia and laryngeal palsy. Prenatal diagnosis of LC has never been reported, although associated anomalies may be detected on fetal ultrasonography. Once the cleft is diagnosed, it is essential to determine its length to orient the management and treatment approach. Management involves maintenance of satisfactory ventilation, prevention of secondary pulmonary complications as a result of repeated aspirations, and adequate feeding. Endotracheal intubation may be required for respiratory distress in severe cases. Treatment requires endoscopic or external surgery to close the cleft. Surgery should be performed as early as possible to avoid complications related to aspiration and gastric reflux, except in type 0 and type 1 cases in which conservative measures must first be attempted. The prognosis is variable depending on the severity of the LC and associated malformations. Early diagnosis and appropriate treatment and management help to reduce mortality and morbidity.

Am J Respir Crit Care Med. 2011 Dec 1;
Katz ES, Mitchell RB, D'Ambrosio CM

Obstructive sleep apnea in infants has a distinctive pathophysiology, natural history, and treatment compared to older children and adults. Infants have both anatomical and physiological predispositions towards 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 aperature stenosis, choanal atresia and laryngeal webs may also have adverse effects on airway patency. Additional exacerbating factors predisposing infants towards airway collapse include neck flexion, airway secretions, gastro-esophageal 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 post-conceptual 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 gastro-esophageal reflux.

Rev Prat. 2011 Sep; 61(7): 904-6
Garcia G

Vocal cord dysfunction is characterized by paradoxical vocal cord adduction, especially during inspiration. Clinical symptoms can mistakenly lead to a diagnosis of asthma. Some patients, thought to be asthmatic, are sometimes considered as having severe asthma. Positive diagnosis rests on the finding of paradoxical vocal cord adduction on laryngoscopic examination. The main limitation of this examination is associated with the intermittent nature of the symptoms. The diagnosis of vocal cord dysfunction can thus be mistakenly ruled out based on the absence of abnormalities on laryngoscopic examination. Therapeutic management focuses on phoniatric rehabilitation.

Ital J Pediatr. 2011; 37: 51
Torre M, Carlucci M, Avanzini S, Jasonni V, Monnier P, Tarantino V, D'Agostino R, Vallarino R, Della Rocca M, Moscatelli A, Dehò A, Zannini L, Stagnaro N, Sacco O, Panigada S, Tuo P

Congenital and acquired airway anomalies represent a relatively common albeit challenging problem in a national tertiary care hospital. In the past, most of these patients were sent to foreign Centres because of the lack of local experience in reconstructive surgery of the paediatric airway. In 2009, a dedicated team was established at our Institute. Gaslini's Tracheal Team includes different professionals, namely anaesthetists, intensive care specialists, neonatologists, pulmonologists, radiologists, and ENT, paediatric, and cardiovascular surgeons. The aim of this project was to provide these multidisciplinary patients, at any time, with intensive care, radiological investigations, diagnostic and operative endoscopy, reconstructive surgery, ECMO or cardiopulmonary bypass. Aim of this study is to present the results of the first year of airway reconstructive surgery activity of the Tracheal Team.Between September 2009 and December 2010, 97 patients were evaluated or treated by our Gaslini Tracheal Team. Most of them were evaluated by both rigid and flexible endoscopy. In this study we included 8 patients who underwent reconstructive surgery of the airways. Four of them were referred to our centre or previously treated surgically or endoscopically without success in other Centres.Eight patients required 9 surgical procedures on the airway: 4 cricotracheal resections, 2 laryngotracheoplasties, 1 tracheal resection, 1 repair of laryngeal cleft and 1 foreign body removal with cardiopulmonary bypass through anterior tracheal opening. Moreover, in 1 case secondary aortopexy was performed. All patients achieved finally good results, but two of them required two surgeries and most required endoscopic manoeuvres after surgery. The most complex cases were the ones who had already been previously treated.The treatment of paediatric airway anomalies requires a dedicated multidisciplinary approach and a single tertiary care Centre providing rapid access to endoscopic and surgical manoeuvres on upper and lower airways and the possibility to start immediately cardiopulmonary bypass or ECMO.The preliminary experience of the Tracheal Team shows that good results can be obtained with this multidisciplinary approach in the treatment of complicated cases. The centralization of all the cases in one or few national Centres should be considered.

Int J Pediatr Otorhinolaryngol. 2012 Jan; 76(1): 36-40
Leopold C, De Barros A, Cellier C, Drouin-Garraud V, Dehesdin D, Marie JP

The 22q11 microdeletion is a chromosomal disorder detected by fluorescence in situ hybridization (FISH). It has been known since the 80s, and is involved in many malformative syndromes (DiGeorge sequence, VCFS syndrome, etc.). Airway abnormalities are frequently localized in the larynx, as reported in the following series.A retrospective chart review of laryngeal abnormalities and 22q11 deletion in a tertiary referral center.Five cases of laryngeal abnormalities associated to 22q11 deletion syndrome (DS) were found in a series of 35 cases. Abnormalities encountered were subglottic stenosis (3%), glottic web (9%), laryngeal paralysis (9%), vocal nodule (3%), laryngomalacia (3%) associated with bronchial malposition (3%).Laryngeal abnormalities are relatively common (14% in this series) and important to recognize with the 22q11 deletion syndrome, especially if cardiac surgery is planed. Conversely, in case of laryngeal abnormalities associated to other malformation (like facial dysmorphia or cardiac malformation), the 22q11 deletion must be searched.

Int J Pediatr Otorhinolaryngol. 2011 Sep; 75(9): 1210-4
Barnes MA, Ho AS, Malhotra PS, Koltai PJ, Messner A

Cricopharyngeal achalasia is an uncommon cause of feeding difficulties in the pediatric population, and is especially rare in infants. Traditional management options include dilation or open cricopharyngeal myotomy. The use of botulinum toxin has been preliminarily reported for cricopharyngeal achalasia in children as a modality for diagnosis and management. This study describes the use of botulinum toxin as a definitive treatment for pediatric cricopharyngeal achalasia.A retrospective analysis was performed of three patients who were diagnosed with cricopharyngeal achalasia and underwent botulinum toxin injections to the cricopharyngeus muscle. The charts were reviewed for etiology, botulinum toxin dosage delivered, length of follow-up, postoperative need for nasogastric tube placement, and swallow studies.A total of 7 botulinum toxin injections into the cricopharyngeus muscle were performed in three infants with primary cricopharyngeal achalasia between April 2006 and February 2011. Mean dosage was 23.4 units per session (range: 10-44 units), or 3.1 U/kg (range: 1.4-5.3 U/kg). Mean interval period between injections was 3.3 months (range: 2.7-4.0 months). Mean follow-up period was 22.1 months (range: 3.4-44.5 months). One patient required hospital readmission after injection for presumed aspiration but recovered without need for surgical intervention. No long-term complications were noted post-operatively. All patients improved clinically and ultimately had their nasogastric feeding tubes removed.Botulinum toxin appears to be a safe and effective option in the management of primary cricopharyngeal achalasia in children, and may prevent the need for myotomy.

Head Neck. 2011 Oct 3;
Ferlito A, Devaney KO, Woolgar JA, Slootweg PJ, Paleri V, Takes RP, Strojan P, Bradley PJ, Rinaldo A

It can be confusing for clinicians to work their way through the tangle of pathologic terms used in surgical pathology reports to describe squamous abnormalities in laryngeal biopsies. After a brief review of the normal microscopic anatomy of the larynx and time-honored clinical designations for surface-based abnormalities, this report sorts pathologic changes into 2 groups: those changes that do not carry a premalignant potential (including squamous metaplasia, squamous hyperplasia, pseudoepitheliomatous hyperplasia, keratosis, and parakeratosis) and those that do (including dyskeratosis, laryngeal intraepithelial neoplasia [LIN], atypia, dysplasia, and carcinoma in situ). Generally, lesions in the first group do not require additional therapy or close follow-up; lesions in the second group, however, demand either some form of local therapy or close follow-up to monitor for the development of a more aggressive pathology. © 2011 Wiley Periodicals, Inc. Head Neck, 2011.