Branchial cleft cyst and branchial cleft cyst carcinoma, or cystic lymph node and cystic nodal metastasis?

BACKGROUND: Lateral cervical cysts are usually considered as of branchial cleft origin, despite many studies showing that branchial cysts do not arise from the remnants of the branchial apparatus. In the same way, some authors still consider that a true clinicopathological entity such as 'branchial cleft cyst carcinoma' could exist, at least in theory. Despite insufficient evidence in support of the branchial theory, a number of publications continue to emphasise this concept. METHODS: A literature review of articles in Medline and PubMed databases was carried out to retrieve papers relevant to the topic. RESULTS AND CONCLUSION: The evidence from lateral cervical cyst studies and knowledge about cystic metastasis of Waldeyer's ring could be applicable for both diagnoses. Terms such as 'branchial cleft cyst' and 'branchial cleft cyst carcinoma' are confusing and misleading, and it is questionable as to whether their usage is still tenable.

Triggering receptor expressed on myeloid cells 1 and 2 in patients with chronic maxillary sinusitis.

PURPOSE: Chronic sinusitis can result from variable types of immune-mediated process, whose pathogenesis is not fully understood. Triggering receptors expressed on myeloid cells 1 and 2 (TREM-1, TREM-2) are involved in myeloid cell activation enabling these cells to fine-tune the inflammatory response, which may have an impact on subsequent adaptive immunity and may be the key factor in pathogenesis. The aim of the study was to analyse soluble TREM-1 and TREM-2 molecules in maxillary sinus lavage fluid and compare the defined subgroups selected from patients with chronic sinusitis with/without nasal polyps and allergy (asthma and allergic rhinitis). METHODS: The levels of soluble TREM-1 and TREM-2 were measured by Elisa test in a cohort of patients with chronic maxillary sinusitis (n=45). We compared subgroups of patients with nasal polyps (n=33) and allergy (n=25: inclusive of asthma (n=11) and allergic rhinitis (n=14)) with the control group of patients without nasal polyps (n=13), and without allergy (n=21). RESULTS: The study did not prove the difference between subgroups with and without nasal polyps. The levels of soluble TREM-1 did not differ significantly between patients with allergy (asthma and allergic rhinitis) and the control group without allergy (p=0.4804). The levels of soluble TREM-2 were significantly higher in patients with allergy (p=0.0028), asthma (p=0.0103) and allergic rhinitis (p=0.0137) as compared with the control group. CONCLUSION: Our results suggest the role of TREM-2­mediated activation of myeloid cells in chronic sinusitis accompanied by allergy, asthma, and allergic rhinitis (Tab. 6, Ref. 25).

Hereditary bilateral sudden sensorineural hearing loss.

OBJECTIVES: The aim of our study is to demonstrate a causal link between two distinct diagnoses, the hereditary hearing loss, and the sudden sensorineural hearing loss. BACKGROUND: Sudden sensorineural hearing loss is an emergency condition in otolaryngology and a rare diagnosis in childhood. Most often it only affects one ear and its cause remains unknown. METHODS: We present a clinical study of a 10-year-old female patient presenting with bilateral sudden sensorineural hearing loss analyzed by Sanger sequencing of the GJB2 gene. RESULTS: The subject was referred to the hospital for bilateral sudden hearing loss which developed 3 days before the admission. Audiometric testing confirmed bilateral asymmetric sensorineural hearing loss. All routine diagnostic procedures including MRI and CT imaging showed normal results. She was treated with intravenous and intratympanic corticosteroids followed by hyperbaric oxygen therapy with partial hearing recovery in one ear. DNA analysis of the GJB2 gene identified biallelic c.35delG deletion. The subject had no other affected family members and her auditory development to that time was normal. CONCLUSION: Our finding extends the knowledge on phenotype variability in GJB2 variants. We suggest considering genetic testing in pediatric cases of bilateral sudden sensorineural hearing loss (Tab. 1, Fig. 4, Ref. 24).

Incidence and clinical predictors of cystic squamous cell carcinoma metastases in lateral cervical cysts.

OBJECTIVE: This study aimed to determine the incidence of metastatic squamous cell carcinoma in patients with an isolated cervical cystic mass, and to describe the clinical features that might predict the origin of cystic tumours. METHOD: Adult patients with isolated lateral cervical cystic masses who were scheduled for surgery from 1st January 2010 to 31st August 2016 in two tertiary care referral centres in Slovakia were analysed retrospectively. RESULTS: The incidence of cystic metastases in the whole cohort and in patients aged over 40 years were 9.9 per cent and 18.5 per cent, respectively. The incidence in patients aged over 40 years (18.5 per cent) was statistically significant (p = 0.003). CONCLUSION: The incidence of cystic squamous cell carcinoma metastases in lateral cervical cysts in patients aged over 40 years is high enough to call for excisional biopsy with frozen section, panendoscopy with direct biopsies, tonsillectomy and even neck dissection in cases of histologically confirmed carcinoma.

Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications.

Hereditary etiology plays an important role in bilateral profound deafness as a main indication for cochlear implantation. Mutations in DFNB1 locus account for most of the inherited deafness cases in Caucasians. To provide actual data on mutation prevalence among implanted deaf subpopulation, we performed DNA analysis of GJB2 and GJB6 genes in 131 unrelated Slovak cochlear implant users. Eight previously described causal mutations and one probably pathogenic missense variant (c.127G>A) were detected in the GJB2 gene in 58 (44.28%) subjects. The most common mutation found was c.35delG with frequency 83.02% of all disease alleles, followed by c.71G>A, c.1-3201G>A, c.313_326del14, c.109G>A, 167delT, c.269T>C, and c.333_334delAA. GJB6 deletion delD13S1830 was identified in only one subject, in double heterozygosity with a GJB6 mutation. Thus, the deafness cause could be clearly attributable to DFNB1 mutations in 36.64% of the patients examined. In summary, the mutation profile found in our cohort was similar to the mutation spectrum reported for Central European deaf populations. The mutation prevalence in cochlear implant users was, however, almost by 25% higher than previously established for non-implanted hearing-impaired population in Slovakia. Finally, we also demonstrate a certain variability in deafness onset in patients with causal genotype and coincidence with other risk factors for deafness. Our results underline the importance of genetic tests in all cochlear implant candidates.

Vibrant soundbridge in aural atresia: does severity matter?

Congenital aural atresia (CAA) poses significant challenges to surgical remediation. Both bone anchored hearing aids (BAHA) and the Vibrant Soundbridge (VSB) have been considered as alternatives or adjuncts to conventional atresiaplasty. A consensus statement on VSB implantation in children and adolescents recommended against implantation when the Jahrsdoerfer score was less than 8. More recent publications suggest that patients with Jahrsdoerfer scores between three and seven may benefit from VSB implantation. The purpose of this study was to further investigate the outcomes of VSB implantation in CAA. The study was a multi-center, retrospective review. A retrospective review of data (patient's demographic, clinical, implant and audiological information) from four collaborating centers that have performed VSB implantation in CAA was performed. Outcomes based on severity of the atresia using the Jahrsdoerfer and Yellon-Branstetter scoring systems were also evaluated. Data from 28 patients from the four centers revealed no iatrogenic facial nerve injuries or change in bone thresholds. Post-operative speech threshold and speech recognition was, respectively, 39 dB and 94%. Jahrsdoerfer and Yellon scores ranged from 4 to 9 and 4 to 12, respectively. The scores did not correlate to or predict outcomes. Three individual elements of the scores did correlate to initial, but not long-term outcomes. Atresiaplasty and BAHA in the management of CAA are not complete solutions. VSB may offer an alternative in these surgically complex patients for achieving amplification, though better metrics for patient selection need to be developed. LEVEL OF EVIDENCE : IV.

Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.

Hearing loss is one of the most widespread sensory disorders. The incidence of deafness in general population is 1:1000 newborns. About one half of the cases of the congenital sensorineural hearing loss (SNHL) is inherited. Recessive mutations in the gap junction beta 2 (GJB2) gene are the most common genetic causes of the nonsyndromic SNHL. The GJB2 encodes a protein connexin 26 which forms a subunit of gap junction essential for the correct function of the inner ear. The syndromic SNHL is associated with a wide range of other symptoms, which encompass also dysfunctions of endocrine organs. The Pendred syndrome associated with the hearing impairment is characterized by a prelingual, bilateral sever to profound SNHL, goiter, and iodine organification defect. It is an autosomal recessive disorder, which develops due to mutations in pendrin, an anion channel encoded by SLC26A4 gene. Another important type of syndromic hearing loss is the Maternally Inherited Diabetes and Deafness syndrome, which is caused by several mitochondrial DNA mutations. These mutations are clinically manifested by a hearing impairment with development of the diabetes in the adult age. Hearing impairment occurs during puberty when sensation of high frequency tones is affected following with further progress to profound bilateral sensorineural hearing impairment in the whole frequency range. This review deals with the molecular mechanisms of common genetic causes of the hereditary SNHL along with the selected endocrinopathies emphasizing that the DNA analyses along with the functional studies significantly contribute to the early SNHL diagnosis followed by personalized therapy and genetic counseling.

Sentinel lymph node radiolocalization and biopsy in oral cavity and oropharynx mucosal squamous cell carcinoma.

OBJECTIVES: The aims of the study were to assess our feasibility and accuracy of sentinel lymph node radiolocalization in patients with squamous cell carcinoma of the oral cavity and oropharynx, and to determine whether the pathology of the sentinel node reflected regional disease. MATERIAL AND METHODS: Patients preoperatively underwent lymphoscintigraphy after peritumoral injection of a 99m Tc labeled radiocolloid. After perioperative gamma probe radiolocalization of the sentinel lymph nodes, elective neck dissection was performed. The histopathological examination of the sentinel nodes and other nodes of neck dissection specimen were compared. RESULTS: Detection of sentinel lymph nodes by lymphoscintigraphy was feasible in all 12 patients. Also localization with a handheld gamma probe was successful in all patients. Forty sentinel nodes and 276 non-sentinel nodes were histopathologically examined. Occult metastases were confirmed in 7 sentinel nodes (4 patients). There was no false negative sentinel lymph node in our series. CONCLUSION: Identification of the sentinel lymph node in patients with squamous cell carcinoma of the oral cavity and oropharynx is technically feasible and accurate. This method shows to be able to predict occult metastases and select patients who would benefit from neck dissection (Fig. 1, Tab. 2, Ref. 28). Full Text in free PDF www.bmj.sk.

Cochlear implantation in malformed inner ear.

OBJECTIVES: Authors evaluate diagnosis, surgery and results in the implantees with malformed inner ear. METHODS: Four children with the inner ear malformations were included in this series (one child with common cavity, two children with narrow internal auditory meatus and one child with lateral semicircular canal aplasia). CT and MRI were used for the imaging of inner ear malformations. Different types of implants (Medel Combi 40+, Nucleus Freedom) with different types of electrodes were used. The average time of being the cochlear implant user in the time of evaluation was 3 years. RESULTS: Pure tone audiometry (PTA), Category of Auditory Performances (CAP), Evaluation of spontaneous speech and Evaluation of speech understanding were used to evaluate of the CI outcome. CONCLUSIONS: Malformation of inner ear with the developed cochlear nerve nowadays is the indication for CI. Councelling with parents must be open and detailed to inform them on realistic expectations and different ways of deaf child education (Tab. 4, Fig. 4, Ref. 13). Full Text (Free, PDF) www.bmj.sk.

[Meningioma of the clivus]. / Meningeómy klivu.

Clivus meningeoma is a relatively rare tumor with difficult surgical accession. Large and giant tumors acquire a very close relation to the brain stem, cranial nerves and brain vessels. In 10 our of 13 patients, the large tumor diameter exceeded 4 cm, and in half of them it was larger than 5 cm (max. 6.5 cm). Small and medium-sized tumors were removed by means of simple neurosurgical approaches. All of the 10 large and giant tumors were removed by a combined supra-infratentorial presigmoid approach which enabled the approach to the whole tumor. Three recurrent tumors were removed subtotally, the primary surgical intervention removed 5 tumors radically, 4 subtotally and 1 partially. The entire removal was precluded due to infiltrative growth of the tumor localized in the cavernous sinus, firm adherence of tumor to the brain stem or to the vertebrobasillar vessels. Authors' own experience support the data from literature dealing with the relationship of unfavourable results to the size of tumor. Permanent impairment of cranial nerves (38.5%) occurred mostly in large and giant tumors. One death (7.7%) during the peri-operative period (up to one month following operation), as well as the second that occurred in later period succeeded the removal of a giant tumor. Regarding the character of the relationship of large clivus meningeoma to the surrounding nerve and vascular structures, the future improvement of functional results can be expected especially owing to early diagnosis. (Tab. 2, Fig. 2, Ref. 19.)

Petrous apex cholesteatoma.

Primary or secondary petrous apex cholesteatoma requires surgical management. We describe here live patients with cholesteatoma in the petrous apex on whom different surgical approaches to this region were used. Translabyrinthine transcochlear (transotic) approach with VII-XII anastomosis was used in four patients. In one patient middle fossa approach with otic capsule and facial canal leaving intact was used. All patients are without recurrence of cholesteatoma with improving of the facial nerve function in one case. We discuss specific pathologies of the petrous apex, the surgical approach to this region indicated according to the size and type of pathology diagnosed, hearing loss and facial nerve function. Possible complications of this surgical procedure and their management are also discussed.

[Objective auditory examination of neonates using otoacoustic emissions]. / Objektívne vysetrenie sluchu novorodencov pomocou otoakustických emisií.

Auditory examination performed by an objective examination method in newborns is aimed to early identify possible permanent auditory defects. Detection of permanent auditory defect already in the first days after birth enables early treatment and rehabilitation with the help of hearing apparatus and later possibly with cochlear implants. The paper presents principles of auditory examinations with the help of otoacoustic emissions and analyzes the results of a screening using otoacoustic emissions performed in a group of 596 newborns and the cause of deafness in a group of 101 prelingually deaf children. On the basis of the results and literature data the authors recommend gradual introduction of universal auditory screening of newborns in Slovak republic. (Tab. 3, Fig. 4, Ref. 13.)

[Therapy of tracheal stenoses]. / Liecebné moznosti tracheálnej stenózy.

BACKGROUND: Tracheal stenosis is a serious disease of the upper airways. With advances in resuscitation its incidence is steadily increasing. Despite modern therapeutic procedures and the use of perfect materials tracheal stenosis is still a serious therapeutic problem. METHODS AND RESULTS: The authors present a group of 48 patients with tracheal stenosis treated during the period between January 1990 and September 1995. Thirty-eight patient with postintubation stenosis were subjected to surgery. 4 with direct tracheal injury, 5 with a tracheoesophageal fistula and one with a malignant stenosis of the trachea. For treatment of tracheal stenosis a wide range of therapeutic procedures was used: from laser destruction to long-term stenting on a T cannula and plastic reconstruction of tracheal defects to extensive segmental resections of the trachea. In the group of patients with segmental resection of the trachea (21 patients) in 17 good results were achieved (81%), in three satisfactory results (14%) and one patient died during the postoperative period. In the group with combined treatment (27 patients) in 13 good results were recorded (48%), in three satisfactory results (11%), in nine patients treatment still proceeds (33%) their prognosis in uncertain. During the postoperative period two patients died. CONCLUSIONS: From the results of the work the authors conclude that segmental resection of the trachea holds a priority position in the treatment of tracheal stenoses. It gives the best immediate and late therapeutic results. It is important to emphasize prevention of tracheal stenoses during prolonged controlled ventilation. Because the most difficult tracheal reconstructions are those after unsuccessful primary reconstructions, it is essential to concentrate serious tracheal lesions in departments which have adequate staff and technical equipment and ample experience.

[Initial experience with a silicone T-tube of our design in stenoses of the larynx and trachea]. / Prvé skúsenosti so silikónovou T-trubicou vlastnej výroby pri stenózach hrtana a priedusnice.

Due to research of plastics in the Research Institute of Cables and Isolates in Bratislava it was possible to develop a T-tube which proved useful in the comprehensive treatment of laryngotracheal stenoses at the ENT Clinic of the Faculty Hospital. The advantage of the prototype of the silicon laryngotracheal T-tube is the ovoid shape of the horizontal arm which makes it possible to treat more readily the upper and lower arm. Closure of the horizontal arm permits normal respiration and phonation. The smoothness of the tube wall prevents adherence of mucus and formation of crusts in the tube. The biological inertness and adequate consistency of the T-tube permit epithelialization of the supported areas of the larynx and trachea without formations of excessive granulation tissue. In the submitted paper the authors describe their experience with the use of the silicon T-tube of their own design in three patients with laryngeal stenosis and stenosis of the cervical portion of the trachea.