Lateral cystic neck masses in adults: a ten-year series and comparative analysis of diagnostic modalities.

BACKGROUND: In adults, the solitary lateral cystic neck mass remains a diagnostic challenge with little solid material to target for cytology and few clues on imaging modalities to suggest underlying malignancy. METHOD: This study was a retrospective review of patients presenting with a lateral cystic neck mass to a tertiary academic head and neck centre over a 10-year period. RESULTS: A total of 25 of 157 cystic lesions were subsequently malignant on paraffin section histopathology, with the youngest patient being 42 years. In the age cohort over 40 years, 30 per cent of males and 10 per cent of females were diagnosed with malignancy. The ipsilateral palatine tonsil was the most common primary site (50 per cent). A total of 85 per cent of cases demonstrated integrated human papillomavirus infection. Age, male sex and alcohol were significant risk factors on univariate analysis. Ultrasound-guided fine needle aspiration cytology and magnetic resonance imaging represented the most accurate pre-open biopsy tests. CONCLUSION: The authors of this study advocate for a risk-stratified, evidence-based workup in patients with solitary lateral cystic neck mass in order to optimise timely diagnosis.

A Multicentre UK Study of Outcomes for Locally Advanced Sinonasal Squamous Cell Carcinoma Treated with Adjuvant or Definitive Intensity-modulated Radiotherapy.

AIMS: Sinonasal malignancies are rare; the most common histological subtype is squamous cell carcinoma (SCC). No randomised trial data exist to guide treatment decisions, with options including surgery, radiotherapy and chemotherapy. The role and sequence of a primary non-surgical approach in this disease remains uncertain. The aim of this study was to present treatment outcomes for a multicentre population of patients with locally advanced, stage IVa/b sinonasal SCC treated with radical-intent intensity-modulated radiotherapy, either definitively or postoperatively. MATERIALS AND METHODS: Consecutively treated patients with locally advanced, stage IVa/b sinonasal SCC at four UK oncology centres between January 2012 and December 2017 were retrospectively identified. Descriptive statistics and survival analyses were carried out. Univariable Cox regression analysis was carried out to evaluate the relationship between patient, disease and treatment factors and survival outcomes. RESULTS: In total, 56 patients with sinonasal SCC were included (70% maxillary sinus, 21% nasal cavity, 9% ethmoid/frontal sinus). Forty-one patients (73%) were treated by surgery/adjuvant (chemo)radiotherapy and 15 (27%) by definitive (chemo)radiotherapy. The median duration of follow-up was 3.8 years (interquartile range 2.0-4.7 years). Estimates for 5-year overall survival and progression-free survival were 30.2% and 24.2%, respectively. Local, regional and distant treatment failures were seen in 33%, 33% and 16% of patients, respectively. Univariable analysis revealed inferior progression-free survival for patients treated with neck dissection (hazard ratio 2.6, 95% confidence interval 1.2-6.1, P = 0.022) but no other significant association between the studied factors and survival outcomes. CONCLUSION: We show poor survival outcomes and high rates of locoregional treatment failure for patients with locally advanced stage IVa/b sinonasal SCC. There is a need to investigate improved treatments for this group of patients.

Use of a sternocleidomastoid muscle flap to protect the carotid artery during laryngectomy.

OBJECTIVES: This paper describes a simple method of securing tissue coverage of the great vessels at the initial surgery by rotating the divided sternal heads of the sternocleidomastoid muscle, a routine step during laryngectomy, and approximating them to the prevertebral fascia. The paper presents an illustrated case example where this technique in a salvage laryngectomy repair resulted in a protected vascular axis following a salivary leak. RESULTS: Since utilising this technique, there has been a marked reduction in the requirement of subsequent flap procedures to protect vessels, and no episodes of threatened or actual carotid blowout.

Orbital exenteration and reconstruction in a tertiary UK institution: a 5-year experience.

PURPOSE: Orbital exenteration is a radical oncological surgery that is usually indicated for advanced primary orbital tumors or invasion from local malignancy. We report a 5-year series from a tertiary head and neck center with particular focus on our ablative and reconstructive approach. METHODS: We performed a clinicopathological review of patients referred to Guy's and St Thomas' NHS Foundation Trust Head and Neck multidisciplinary team for management input of an orbital malignancy during the period of 2013 to 2018. Cases involving local invasion from sinonasal malignancy were excluded. The reconstructive approach, perioperative complications, disease-free and overall survival were analyzed. RESULTS: 27 patients were identified and of those treated surgically, a radical extended orbital exenteration was required in almost half (44.4%), with squamous cell carcinoma being the most common pathology (55.6%). A concurrent neck dissection and parotidectomy were commonly performed with confirmed or suspected regional disease, or in the presence of high-risk pathological features. This approach resulted in favourable 2-year overall survival in these advanced stage cases of 84.6% and disease-free survival of 73.2%, with 92% achieving a negative surgical margin. The majority of treated patients required a free flap reconstruction, especially when an extended exenteration defect or adjuvant treatment was anticipated. The anterolateral thigh flap was the most commonly used donor site, and we present our algorithm for reconstruction of these defects. CONCLUSIONS: A multidisciplinary approach to advanced orbital malignancy with a comprehensive approach to surgical resection and reconstruction results in favorable oncological outcomes and addresses functional and cosmetic patient rehabilitation.

Penetrating neck injuries.

Penetrating neck injuries are becoming more common because of the increasing prevalence of knife and gun crimes. The immediate and long-term consequences of injury to the neck can be significant because of the close relationship of important anatomical structures in a confined space. Delayed recognition of major injury and inadequate treatment results in high morbidity and mortality. Developing a clear understanding of the underlying anatomy, common mechanisms of injury and principles of management will provide first responders, emergency doctors and trauma surgeons with confidence in appropriate evidence-based management. Early involvement of otolaryngologists or head and neck surgeons is advisable. Two cases of penetrating neck injury from the June 2017 London Bridge terror attack are discussed.

A validation study on the use of intra-operative video recording as an objective assessment tool for core ENT surgery.

OBJECTIVES: To investigate the reliability and validity of remote scoring a video assessment of a core ENT surgical procedure (myringotomy and grommet insertion) and its suitability as an objective tool for assessing the technical skills of ENT surgeons. DESIGN: Single-blinded (raters) video assessment. SETTING: Tertiary Care University Hospital. PARTICIPANTS: Consultant and trainee [Specialty Registrar (StR) and Core Trainee (CT)] ENT surgeons performing a total of 30 consecutive index procedures. MAIN OUTCOME MEASURES: To determine the construct validity and the reliability of video assessment scoring of myringotomy and grommet insertion by two raters at ENT Consultant level with a subspecialty interest in Otology. To measure the performance (by rating) of participants compared to operative time. RESULTS: A strong correlation between scores by the two blinded raters was demonstrated (ρ = 0.748; P < 0.001). Median scores (/45) for each group were as follows: CT 25.5 (IQR 21.13-31.25), StR 33 (IQR 24.88-35) and Consultant 40 (IQR 35.38-42.63). Kruskal-Wallis test analysis showed statistically significant mean rank scores between the three different levels of experience (H = 12.77, P = 0.002). Multiple group comparisons indicated a significant difference between CT and Consultant groups (P < 0.001) and StR and Consultant groups (P = 0.007). Analysis of the time taken between the experience groups demonstrated a difference (H = 8.689, P = 0.013) although individual intergroup comparisons indicated this was only significant between CT and Consultant groups (P = 0.004). There was a significant negative correlation (ρ = -0.842; P < 0.001) between time taken for procedure and score achieved. CONCLUSIONS: Video assessment of myringotomy and ventilation tube insertion may represent a valid, feasible tool for use in summative and formative assessments of trainee ENT surgeons. Remote scoring of assessment procedures minimises bias and enables blinding of raters. ENT is well positioned to benefit from video assessment due to the high number of surgical procedures within the specialty that are performed utilising digital technology.

Comparative study of flexible nasoendoscopic and rigid endoscopic examination for patients with upper aerodigestive tract symptoms.

INTRODUCTION: The objective of the current study was to compare the outcomes of rigid endoscopic procedures with those of pre-operative flexible nasoendoscopy. METHODS: A total of 253 patients who had undergone rigid endoscopic examination under anaesthesia between 6 January 2010 and 31 August 2011 were identified. Their clinical, surgical and histological records were evaluated. RESULTS: A total of 213 patients had a flexible nasoendoscopic procedure performed and recorded pre-operatively, and 82 in this cohort had a specific lesion or area of concern identified. There were 21 confirmed malignant biopsy results, the majority of which were squamous cell carcinoma. No patient with a negative pre-operative endoscopy had a malignant lesion discovered on endoscopic biopsy. The sensitivity and specificity of pre-operative nasoendoscopy were 100 per cent and 66.3 per cent, respectively. CONCLUSION: Diagnostic rigid endoscopic examination of the upper aerodigestive tract remains an important tool for excluding malignancy in high-risk patients, but is an unnecessary procedure in those low-risk patients with normal pre-operative findings.

An anatomical study of the myelination of human laryngeal nerves.

OBJECTIVE: To determine the differences in myelination between the human recurrent laryngeal nerve and superior laryngeal nerve. METHODS: Fifteen confirmed laryngeal nerve specimens were harvested from five cadavers. Cross-sections were examined under a photomicroscope and morphometric analysis performed. RESULTS: There was a significantly greater number of myelinated fibres than unmyelinated fibres, in both the recurrent laryngeal nerve (p = 0.018) and the superior laryngeal nerve (p = 0.012). There was a significantly greater number of myelinated fibres in the superior laryngeal nerve, compared with the recurrent laryngeal nerve (p = 0.028). However, there was no significant difference in the number of unmyelinated fibres, comparing the two nerves (p = 0.116). CONCLUSION: These findings support those of previous studies, and provide further evidence against the historical plexus theory of laryngeal nerve morphology. The differences in the degree of myelination, both within and between the human laryngeal nerves, may have clinical consequence regarding recovery of function following nerve injury.

Assessment of hepatic inflammation after spinal cord injury using intravital microscopy.

OBJECTIVES: The liver has been shown to play a particularly important role in the initiation and progression of the early systemic inflammatory response (SIR) to spinal cord injury (SCI). The purpose of this study was to determine the time course of leucocyte recruitment to the liver, and to determine the effect of injury severity on the magnitude of leucocyte recruitment and hepatic injury. METHODS: Rats were randomly assigned to one of the following groups: uninjured, sham-injured (laminectomy and no cord injury), cord compressed or cord transected. At 30 min and 90 min after SCI rats had the left lobe of their livers externalised and visualised using intravital video microscopy. RESULTS: Thirty minutes after injury the total number of leucocytes per post-sinusoidal venule was significantly increased after cord transection compared to that in uninjured and sham-injured rats (P<0.05). Of these leucocytes, significantly more were adherent to venule walls (P<0.05). At 90 min the total number of leucocytes per post-sinusoidal venule and the number of adherent and rolling leucocytes was significantly increased after cord transection and cord compression (P<0.05). DISCUSSION: This is the first study to use intravital microscopy to visualise systemic inflammation in the liver following SCI. We have demonstrated immediate leucocyte recruitment to the liver within 30 min after injury and have shown that systemic inflammation increases with time after injury and with severity of injury.

A prospective comparison of fine-needle aspiration cytopathology and histopathology in the diagnosis of orbital mass lesions.

AIM: To assess the diagnostic value of the orbital fine needle aspiration biopsy (FNAB) with an in vitro technique, eliminating the sampling error. DESIGN: Prospective, non-randomised, interventional case series. METHODS: Sixty-eight patients were studied prospectively in institutional clinical practices. Immediately after excision of orbital mass lesions, the removed tissue was stabilised under the hand of the surgeon and biopsied with a 23- or 25-gauge needle. The samples were processed for cytopathological examination with Cytospin. The excised specimens were then submitted for routine histological examination. The cytopathological diagnoses were compared with the final histopathological diagnoses. RESULTS: Six out of 68 lesions were excluded and the remaining 62 cases were divided into four groups as primary malignant, primary benign, secondary malignant and inflammatory lesions, based on histopathological diagnoses. In 43 cases the cytopathological and histopathological diagnoses were the same, with a concordance rate of 69%. Among the malignant tumours, the cytopathological diagnoses correlated with the histopathological diagnoses in 14/14 and 17/27 cases of metastatic/secondary and primary orbital malignancies, respectively. Of 11 primary benign tumours, two cytopathological diagnoses correlated with histopathology. In inflammatory lesions, the cytopathological diagnoses were matched with the histopathological diagnoses in 10/10 biopsies. CONCLUSION: Even when the sampling error is eliminated with an "in vitro FNAB" technique, the concordance rates between histopathological and cytopathological diagnoses varied considerably among different types of orbital mass lesions. FNAB diagnoses were most reliable in metastatic and secondary malignancies and inflammatory lesions, and least reliable in benign orbital neoplasms and cysts.

Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.

Mutations in the gene coding for the high-affinity thiamine transporter Slc19a2 underlie the clinical syndrome known as thiamine-responsive megaloblastic anemia (TRMA) characterized by anemia, diabetes, and sensorineural hearing loss. To create a mouse model of this disease, a mutant line was created with targeted disruption of the gene. Cochlear function is normal in these mutants when maintained on a high-thiamine diet. When challenged with a low-thiamine diet, Slc19a2-null mice showed 40-60 dB threshold elevations by auditory brainstem response (ABR), but only 10-20 dB elevation by otoacoustic emission (OAE) measures. Wild-type mice retain normal hearing on either diet. Cochlear histological analysis showed a pattern uncommon for sensorineural hearing loss: selective loss of inner hair cells after 1-2 weeks on low thiamine and significantly greater inner than outer hair cell loss after longer low-thiamine challenges. Such a pattern is consistent with the observed discrepancy between ABR and OAE threshold shifts. The possible role of thiamine transport in other reported cases of selective inner hair cell loss is considered.

Characterization of a murine high-affinity thiamine transporter, Slc19a2.

Thiamine-responsive megaloblastic anemia with deafness and diabetes (TRMA) is a rare autosomal recessive disorder of thiamine transport. Previous studies have demonstrated that the disease is caused by mutations in the SLC19A2 gene encoding a high-affinity thiamine transporter. We hypothesize that thiamine transport, mediated by SLC19A2, plays a role in the development and or maintenance of several organ systems, in particular the erythropoietic, auditory, and glucose homeostasis systems. To investigate the transporter further, we cloned the murine Slc19a2 locus and characterized the resulting protein. Murine Slc19a2 is a 498 amino acid protein, with 12 predicted transmembrane domains. The gene spans approximately 13kb with 6 exons, structurally identical to that of the human homolog. We localized the Slc19a2 gene to mouse chromosome 1, a region syntenic to human chromosome 1q23 that contains the TRMA locus. Transient expression of Slc19a2 in HEK293T cells resulted in specific uptake of [3H] thiamine, confirming a thiamine transporter function. Western blot analysis of mouse tissues reveals a wide distribution of Slc19a2 protein. Immunohistochemistry studies indicate that Slc19a2 is expressed on the cell surface and intracellularly, and is specifically localized to a subpopulation of cells in cochlea, small intestine, and pancreas.

Sentinel node biopsy for orbital and ocular adnexal tumors.

PURPOSE: To describe a technique for sentinel node mapping and biopsy in patients with orbital or adnexal tumors. METHODS: Five patients with orbital and adnexal tumors were studied. Two patients had malignant eyelid melanomas (one of the skin and one of the conjunctiva), one with orbital invasion. Two patients had sebaceous gland carcinoma, and one patient had a mucoepidermoid carcinoma of the conjunctiva; 500 microCi of Technetium-99m sulfur nanocolloid (Nycomed Amersham, Princeton, NJ) diluted to 1.0 mL was injected intradermally at the lateral canthus. The patients were positioned as they would be during surgery. Lymphoscintigraphy was performed by means of anterior, lateral, and oblique views. The tracer was followed to the first lymphatic basin, and the sentinel node was identified. Cutaneous markers were placed to denote the site. During surgery, lymphoscintigraphy scans and a hand-held gamma probe were used to locate the sentinel node. Once excised, the sentinel node was sent for histopathology. Frozen sectioning confirmed the presence of lymphoid tissue. Permanent sections with immunohistochemical markers were performed to examine for metastatic disease. RESULTS: The sentinel node biopsy technique was applied to 5 patients with orbital and adnexal tumors. All lymph nodes were free of tumor on histopathologic examination. CONCLUSIONS: Sentinel node mapping and biopsy are possible for orbital and adnexal tumors. The morbidity of elective lymph node dissection and adjuvant radiotherapy can be avoided. Our results are preliminary, and further work must be done to identify the lymphatic basins of the orbit and ocular adnexa.

A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.

Thiamine-responsive megaloblastic anaemia (TRMA) syndrome with diabetes and deafness was found in two patients from a Tunisian kindred. The proband was homozygous for a novel mutation, 287delG, in the high-affinity thiamine transporter gene, SLC19A2. We demonstrated that fibroblasts from this patient exhibited defective thiamine transport. These data confirm that the SLC19A2 gene is the high-affinity thiamine carrier and that this novel mutation is responsible for TRMA syndrome.

Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.

Thiamine-responsive megaloblastic anemia (TRMA) syndrome (OMIM No. 249270) comprises a distinctive triad of clinical features: megaloblastic anemia with ringed sideroblasts, diabetes mellitus, and progressive sensorineural deafness. The TRMA gene has been mapped and cloned. Designated "SLC19A2" as a member of the solute carrier gene superfamily, this gene is mutated in all TRMA kindreds studied to date. The product of the SLC19A2 gene is a membrane protein which transports thiamine (vitamin B1) with sub-micromolar affinity. Cells from TRMA patients are uniquely sensitive to thiamine depletion to the nanomolar range, while pharmacologic doses of vitamin B1 ameliorate the anemia and diabetes. Here we review the current status of studies aimed at understanding the pathophysiology of this unique transport defect.

Intracranial paraganglioma (glomus tumor) with orbital extension.

PURPOSE: To describe the clinical features of an intracranial glomus tumor with orbital extension. METHODS: Case report. RESULTS: A 15-year-old girl was examined for a large, vascular intracranial mass extending into the orbit. Attempted orbital biopsy was aborted for fear of uncontrollable hemorrhage. Tumor embolization and partial resection was performed. Histology was consistent with paraganglioma (glomus tumor). CONCLUSION: The orbital surgeon should include glomus tumor in the differential diagnosis of vascular orbital lesions. Their vascularity and hemorrhagic potential should be considered when approaching these lesions surgically.