Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.

BNAR syndrome (MIM608980) is a very rare condition: nine cases belonging to three unrelated families were reported since its first description in 2002. The distinctive clinical feature is the bifidity of the tip of the nose and its association with anorectal and/or renal anomalies. Its molecular basis consisting of biallelic FREM1 missense or nonsense mutations was elucidated after studying the original Egyptian family and was confirmed in two families originating from Afghanistan and Pakistan. We describe a fourth family originating from Turkey with signs challenging the diagnostic criteria suggested by the description of the three reported families.

Expression, Distribution and Role of Aquaporins in Various Rhinologic Conditions.

Aquaporins (AQPs) are water-specific membrane channel proteins that regulate cellular and organismal water homeostasis. The nose, an organ with important respiratory and olfactory functions, is the first organ exposed to external stimuli. Nose-related topics such as allergic rhinitis (AR) and chronic rhinosinusitis (CRS) have been the subject of extensive research. These studies have reported that mechanisms that drive the development of multiple inflammatory diseases that occur in the nose and contribute to the process of olfactory recognition of compounds entering the nasal cavity involve the action of water channels such as AQPs. In this review, we provide a comprehensive overview of the relationship between AQPs and rhinologic conditions, focusing on the current state of knowledge and mechanisms that link AQPs and rhinologic conditions. Key conclusions include the following: (1) Various AQPs are expressed in both nasal mucosa and olfactory mucosa; (2) the expression of AQPs in these tissues is different in inflammatory diseases such as AR or CRS, as compared with that in normal tissues; (3) the expression of AQPs in CRS differs depending on the presence or absence of nasal polyps; and (4) the expression of AQPs in tissues associated with olfaction is different from that in the respiratory epithelium.

Clinical significance of ocular manifestations in granulomatosis with polyangiitis: association with sinonasal involvement and damage.

Ocular involvement is present in 50-60% of granulomatosis with polyangiitis (GPA) patients and can affect any part of the ocular globe. The present study describes ophthalmologic manifestations, association with systemic symptoms, disease activity and damage in GPA. A cross-sectional study was conducted including patients with GPA who underwent rheumatologic and ophthalmologic evaluation. Demographics, comorbidities, ophthalmologic symptoms, serologic markers, radiographic studies, disease activity and damage were assessed. Descriptive statistics, correlation, univariable logistic regression analyses, Student's t, Mann-Whitney U, Chi-square and Fisher's exact tests were performed. Fifty patients were included, 60% female, the median age was 56 years, disease duration 72.5 months. Nineteen (38%) patients had ocular manifestations at GPA diagnosis, scleritis being the most frequent; 27 (54%) patients presented ocular involvement during follow-up, repeated scleritis and dacryocystitis being the most common manifestations. Concomitant ophthalmic and sinonasal involvement was present in 12 (24%). Ocular and ENT damage occurred in 58% and 70%, respectively. Epiphora and blurred vision were the most frequent symptoms; scleromalacia and conjunctival hyperemia (27%) the most frequent clinical abnormalities. Ocular involvement at diagnosis was associated with concomitant ocular and sinonasal involvement at follow-up (OR 4.72, 95% CI 1.17-19.01, p = 0.01). Ocular involvement at follow-up was associated with age at GPA diagnosis (OR 0.94, 95% CI 0.90-0.99, p = 0.03), VDI (OR 1.29, 95% CI 1.03-1.61, p = 0.02), and ENT damage (OR 5.27, 95% CI 1.37-20.13, p = 0.01). In GPA, ocular involvement is frequent, therefore, non-ophthalmologist clinicians should be aware of this manifestation to reduce the risk of visual morbidity and organ damage.

A prospective, non-randomized evaluation of a novel low energy radiofrequency treatment for nasal obstruction and snoring.

BACKGROUND: Weak or inward-bent cartilage of the nasal sidewall at the level of the internal nasal valve (INV) can produce narrowness or collapse of the nasal valve. This is a common cause of impaired nasal breathing during daily activities and there is also an established connection between nasal obstruction and snoring. The condition is often difficult to treat, although even a small enlargement of the lumen at the nasal valve can lead to a significant improvement in the ease of nasal breathing. METHODS: The primary objective of this prospective study was to evaluate the safety and efficacy of the Vivaer system for the treatment of narrowed nasal valves and to measure changes in the symptoms of nasal obstruction and snoring. The Vivaer system uses low energy radiofrequency to remodel the nasal sidewall in order to improve airflow. RESULTS: The study involved 31 patients presenting from 1st September 2017 to 1st May 2018 with symptoms of nasal obstruction and snoring. In all patients, an improvement was observed in nasal breathing measured by NOSE score, sleep quality by SOS questionnaire and quality of life as measured by EQ-5D and SNOT-22. CONCLUSION: Vivaer intranasal remodeling can provide a durable and well-tolerated non-invasive treatment for those patients who are suffering congestion due to narrowness or collapse of the INV.

Evaluation of nasal mucociliary clearance time in patients with Vitamin-D deficiency.

OBJECTIVES: The main purpose of the current study was to investigate nasal mucociliary clearance time (NMC) in patients with Vitamin-D deficiency. METHODS: A total of 55 patients with Vitamin-D deficiency and 32 controls were evaluated. NMC time was measured with subjective saccharine test and compared between study and control groups. In addition, NMC time was re-evaluated after Vitamin-D replacement protocol in patients with Vitamin-D deficiency. RESULTS: The mean 25(HO)Vitamin-D levels were 14.32 ± 4.23 ng/mL (7-24.6) and 29.38 ± 7.05 ng/mL (25-53.8) in study and control groups, respectively (p < 0.001). The mean NMC time was 11.15 ± 3.05 (6.3-17.6) and 8.40 ± 2.33 (6-13.2) in study and control groups, respectively (p < 0.001). The mean 25(HO)Vitamin-D level after the replacement protocol was 33.38 ± 10.03 and the mean NMC time was 9.56 ± 2.54 (p < 0.001). CONCLUSION: The mean NMC time was significantly increased in patients with Vitamin-D deficiency which can be corrected after Vitamin-D replacement protocols. The prolonged mucociliary clearance might be one of the pathophysiologic pathways at increased upper respiratory tract infections, and sinonasal and ear infections in patients with Vitamin-D deficiency.

Effect of obesity on sinonasal disease in asthma.

OBJECTIVE: Sinonasal disease can contribute to poor asthma control. There are reports that link obesity with an increased prevalence of sinonasal disease, but no studies evaluating the severity of sinonasal disease in obese asthmatics, and how this impacts asthma control. The purpose of the current study was to determine if obesity is associated with increased severity of sinonasal disease, and/or affects response to nasal corticosteroid treatment in asthma. METHODS: This study included 236 adults participating in a 24-week randomized, double-masked, placebo-controlled study of nasal mometasone for the treatment of poorly controlled asthma. Sinonasal disease severity was assessed using validated questionnaires, and compared in participants of differing BMIs. Eosinophilic inflammation was assessed using markers in nasal lavage, serum and exhaled nitric oxide. Response to treatment was compared in different BMI groups. RESULTS: Obesity had no effect on the severity of sinonasal disease symptoms in asthmatics (Sino-Nasal Outcome Test 22 (SNOT 22) score [mean ± SD] 35.4 ± 18.5, 40.2 ± 22.8, and 39.1 ± 21.7, p = 0.43, in lean, overweight and obese participants), nor on nasal, bronchial or systemic markers of allergic inflammation. Nasal steroids had some limited effects on symptoms, lung function and inflammatory markers in lean participants, but no detectable effect was found in obese patients. CONCLUSIONS: Obesity does not affect severity of sinonasal disease in patients with asthma; the association of sinonasal disease symptoms with increased asthma severity and markers of Type 2 inflammation are consistent across all BMI groups. The response of obese patients to nasal corticosteroids requires further study.

The new agreement of the international RIGA consensus conference on nasal airway function tests.

The report reflects an agreement based on the consensus conference of the International Standardization Committee on the Objective Assessment of the Nasal Airway in Riga, 2nd Nov. 2016. The aim of the conference was to address the existing nasal airway function tests and to take into account physical, mathematical and technical correctness as a base of international standardization as well as the requirements of the Council Directive 93/42/EEC of 14 June 1993 concerning medical devices. Rhinomanometry, acoustic rhinometry, peak nasal inspiratory flow, Odiosoft-Rhino, optical rhinometry, 24-h measurements, computational fluid dynamics, nasometry and the mirrow test were evaluated for important diagnostic criteria, which are the precision of the equipment including calibration and the software applied; validity with sensitivity, specificity, positive and negative predictive values, reliability with intra-individual and inter-individual reproducibility and responsiveness in clinical studies. For rhinomanometry, the logarithmic effective resistance was set as the parameter of high diagnostic relevance. In acoustic rhinometry, the area of interest for the minimal cross-sectional area will need further standardization. Peak nasal inspiratory flow is a reproducible and fast test, which showed a high range of mean values in different studies. The state of the art with computational fluid dynamics for the simulation of the airway still depends on high performance computing hardware and will, after standardization of the software and both the software and hardware for imaging protocols, certainly deliver a better understanding of the nasal airway flux.

Recapitulation of Unilateral Cleft Lip Nasal Deformity on Normal Nasal Structure: A Finite Element Model Analysis.

Cleft lip nasal deformity has been challenging to plastic surgeons. A better understanding of the biomechanical aspect of the cleft nose would contribute to a better correction. In this study, finite element model of a normal nose was constructed and loaded with forces to recapitulate the unilateral cleft lip nasal deformity. Tether at the alar base was simulated by a laterally directed force at the lateral crus, and tether at the columella base by a posteriorly directed force at the medial crus. The equivalent von-Mises stress and the total deformation consequent to different patterns of loading were captured. In accordance with clinical observations, unilaterally loaded forces caused deformation on both sides of the nose. A correlation between the patterns of loading and different cleft lip nasal deformities was documented in detail. When set at the same force magnitude, tether at the columella base led to more extensive changes in the nasal morphology and higher level of stress than at the alar base. Clear identification of major pathological tethers in the nasolabial region might lead to more accurate and stable correction of cleft lip nasal deformities.

[The distribution of interleukins and cytokines in the mucous membranes of the nose and the nasopharynx in the patients presenting with the post-nasal drip syndrome]. / Raspredelenie interleikinov i tsitokinov v slizistoi obolochke nosa i nosoglotki pri izolirovannom sindrome postnazal'nogo zatekaniia.

The objective of the present study was to elucidate the distribution of interleukins and cytokines in the mucous membranes of the nose and the nasopharynx in the patients presenting with the post-nasal drip syndrome. The study included 20 patients with this pathological condition and 20 volunteers who comprised the control group. The samples of the mucous membranes of the nose and the nasopharynx were examined with the use of the immunohistochemical methods to identify the protein gene product 9.5, interleukin-6, interleukin-10, the tumour necrosis factor-alpha, nuclear factor-kB, and beta-defensin. It was shown that the post-nasal drip syndrome is characterized by the enhanced content of the protein gene product 9.5, interleukin-6, interleukin-10, the tumour necrosis factor-alpha, nuclear factor-kB, and beta-defensin in the mucous membranes of the nose and the nasopharynx.

Misdiagnosed paranasal gossypiboma: a 10-year experience with 21 cases at a tertiary center.

BACKGROUND: Different from rhinoliths, the paranasal gossypiboma is a foreign body, such as a surgical sponge, left in the nasal cavity. It is a rare, frequently misdiagnosed disease that has rarely been reported. We summarize its clinical characteristics, management, and possible risk factors. METHODOLOGY: We reviewed medical records of confirmed paranasal gossypibomas at a tertiary medical center between 2005 and 2015. Clinical symptoms, age, sex, anatomic sites, endoscopic photography, computed tomography, intraoperative findings, and past medical history were reviewed. RESULTS: The study included 21 patients, each of whom had ultimately undergone two operations. Among them, 20 underwent endoscopic nasal surgery in primary hospitals, and 15 had been misdiagnosed during the second surgery. The average interval to discovery of a retained foreign body was 200 days. Predominant occurrence sites were the maxillary and ethmoid sinuses. Computed tomography showed paranasal gossypiboma as a heterogeneous cystic lesion with a thin calcified shell. CONCLUSIONS: A history of endoscopic nasal surgery, especially performed at a primary hospital, is a warning sign for clinicians. Computed tomography can add to the warning by showing a heterogeneous cystic lesion with a thin calcified shell. Clinicians should be aware of these characteristics to avoid misdiagnosing paranasal gossypiboma.

[Diseases of the nose and paranasal sinuses in childhood]. / Erkrankungen der Nase und der Nasennebenhöhlen im Kindesalter.

Diseases of the pediatric nose and paranasal sinuses as well as neighboring anatomical structures encompass a variety of pathologies, especially of inflammatory nature. Congenital disease, such as malformations and structural deviations of the nasal septum, as well as systemic metabolic pathologies affecting the nose and sinuses, rarely require medical therapy from an Otolaryngologist. The immunological function of the mucosa and genetic factors play a role in the development of disease in the pediatric upper airway tract, especially due to the constantly changing anatomy in this growth phase. Disease description of the nose and nasal sinuses due to mid-facial growth must also take developmental age differences (infant, toddler, preschool, and school age) into account. Epidemiological examinations and evidence based studies are often lacking in the pediatric population. The wide range of inflammatory diseases of the nose and paranasal sinuses, such as the acute and chronic rhinosinusitis, the allergic rhinitis, and adenoid disease, play a role in the susceptibility of a child to infection. The susceptibility to infection depends on the pediatric age structure (infant, young child) and has yet to be well defined. The acute rhinosinusitis in children develops after a viral infection of the upper airways, also referred to as the "common cold" in the literature. It usually spontaneously heals within ten days without any medical therapy. Antibiotic therapy is prudent in complicated episodes of ARS. The antibiotic therapy is reserved for children with complications or associated disease, such as bronchial asthma and/or chronic bronchitis. A chronic rhinosinusitis is defined as the inflammatory change in the nasal mucosa and nasal sinus mucosa, in which the corresponding symptoms persist for over 12 weeks. The indication for CT-imaging of the nasal sinuses is reserved for cases of chronic rhinosinusitis that have been successfully treated with medication. A staged therapeutic concept is followed in CRS based on conservative and surgical methods. Nasal sinus surgery is considered nowadays as effective and safe in children. Based on the assumption that adenoids are a reservoir for bacteria, from which recurrent infections of the nose and nasal sinus originate, the adenoidectomy is still defined as a cleansing procedure in rhinosinusitis. 69.3% of the children had benefit from adenoidectomy. Comorbidities, such as pediatric bronchial asthma, presently play an even more important role in the therapy of rhinosinusitis; therefore, it is often wise to have the support of pediatricians. In western European countries 40% of children presently suffer from allergic rhinitis, in which pronounced nasal obstruction can cause disturbed growth in facial bones. An early therapy with SIT may prevent the development of bronchial asthma and secondary sensitization to other allergens. Therefore, SIT is recommended in treatment of allergic rhinitis whenever, if possible. The assessment of diagnostic tools is for the examiner not often possible due to the lack of evidence. Rhinosurgical approaches are often described in study reports; however, they lack the standard prospective randomized long-term study design required nowadays and can only be evaluated with caution in the literature.

[Ventilatory examination before an aesthetic rhinoplasty]. / Le bilan ventilatoire pré-rhinoplastie esthétique.

Nose and nasal cavity provide ventilation, inspired air conditioning and olfaction. They may be the seat of inflammatory, infectious and malignant disease, or preoperative or postoperative architectural abnormalities, altering these functions, for which clinical examination will be a variable return. First of all, we'll see, after a brief physiological reminder, descrambling examination which allows non-ENT surgeon to select patients justifying a further preoperative functional exploration. In total, there will be three groups of patients: those who have no cons-indication to rhinoplasty, those with an indication of aesthetic and functional rhinoseptoplasty, those with cons-indication for rhinoplasty.

[The rheologic characteristics of nasal secretion].

The objective of the present study was to analyse the available data on the qualitative and quantitative composition of nasal secretion (NS) obtained from the healthy subjects and the patients presenting with various diseases of the nose and paranasal sinuses (PHS). The author maintains that investigations for the identification of organic and inorganic components contained in the nasal secretion and for the measurement of their contents as well as the studies of its properties with the use of the biochemical and physical methods are of primary diagnostic and prognostic importance. It is supposed that the physical properties of NS can be described in terms of the notions and principles of rheology. i.e. the science of the flow of matter. For this reason, airway secretion plays an important role in the functioning of the respiratory organs and the maintenance of homeostasis of the internal environment of the body. The composition of secretion from the nasal cavity and paranasal sinuses is considered to be a factor of of pathogenesis and indicator of the pathological processes in the respiratory tract. It is recommended that the adequate mucolytic medicines should be included into the treatment protocol of PNS diseases to liquefy the thick pus and viscous secretion in order to improve the mucociliary clearance and facilitate the release of secretion from the sinuses.

Executive summary of European Task Force document on diagnostic tools in rhinology.

This Executive Summary of the EAACI Task Force document on Diagnostic Tools in Rhinology provides the readers with an over- view of the currently available tools for diagnosis of nasal and sino-nasal disease, published in full version in the first issue of Clini- cal and Translational Allergy. A panel of European experts in the field of Rhinology have contributed to this consensus document on Diagnostic Tools in Rhinology. Important issues related to history taking, clinical examination and additional investigative tools for evaluation of the severity of nasal and sinonasal disease are briefly highlighted in this executive summary.

[CT rhinometry : a correlation of rhinomanometry and multiplanar computer tomography of the nasal cavity]. / CT-Rhinometrie : Korrelation der Rhinomanometrie mit multiplanarer Computertomographie der Nasenhaupthöhle.

BACKGROUND: Otorhinolaryngologists require new diagnostic methods to give further insight into the physiology of nasal breathing. The functional aspects of radiological data in the field of ENT have rarely been examined. This study compares computed tomography (CT) scan area measurements of the paranasal sinuses with physiological data from rhinomanometry. PATIENTS AND METHODS: In a retrospective study, paranasal CT scans from 36 patients were analysed for volume, width and hydraulic diameter of the five key regions of the nasal cavity (CT rhinometry) and compared to the active anterior rhinomanometric (RMM) results representing the gold standard in nasal flow description. RESULTS: The highest correlation between the rhinomanometric results and CT rhinometry was found at the internal ostium, followed by the diffuser region. The structures important for regulating nasal flow could thus be identified in the CT area data. CONCLUSION: CT rhinometry revealed structures important for nasal breathing, in addition to providing anatomical and topographical data. CT rhinometry measured volumes, width and hydraulic diameters of the nasal cavity correlated with measurements of transnasal flow.

Recurrent rhinolithiasis: a case report with review of the literature.

Rhinolith is an uncommon nasal mass and a rare entity encountered in clinical practice. The typical symptoms of rhinolith are unilateral nasal obstruction, foul smelling purulent nasal discharge and epistaxis, crusting, swelling of nose or face, anosmia, epiphora and headache. In this report, we present a case of recurrent rhinolith manifesting as an incidental finding on dental radiographs. A 26-year old male patient with a history of long standing halitosis had an operation for rhinolith seven years previously. Rhinolith in the right nasal cavity was diagnosed on rigid endoscopic examination. Rhinolith was removed by using a rigid nasal endoscope under local anaesthesia. To our knowledge, recurrence of rhinolith has not been described previously in the literature.

A possible case of complex regional pain syndrome of the nose?

OBJECTIVE: We present a case report of a patient with a putative diagnosis of complex regional pain syndrome of the nose. We would like to bring this disorder to the attention of rhinologists. CASE REPORT: A 53-year-old man presented with a history of extreme, constant, debilitating pain in his nose that started after he underwent several extensive nasal surgeries. Examination revealed atrophic nasal mucous membranes at the nasal septum. No other abnormalities were found. The pain did not diminish despite administration of analgesics and neuropathic pain medications. We propose a diagnosis of complex regional pain syndrome of the nose. CONCLUSION: The large number of nasal surgeries performed worldwide and the far reaching consequences of this debilitating syndrome indicate that it merits further investigation to determine whether it is a distinct disorder that should be recognized as such.

[The state of intranasal structures as a factor responsible for the disturbances of the breathing function of the nose].

The objective of the present work was to study and systematize anatomical abnormalities found in the oral cavity and its vestibulum of the patients presenting with nasal breathing disturbances. This study included 900 patients at the age varying from 13 to 83 years given surgical treatment based at the City Otorhinolaryngological Centre of the clinical hospital No 5, Ufa, during the period of time spanning from 1997 to 2009. We estimated the state of intranasal structures at the initial stage of the surgical treatment of the patients with nasal breathing disturbances. The anatomical abnormalities localized in the anterior, middle, and posterior parts of the oral cavity were systematized. It was shown that the majority of the patients had a combination of several anatomical abnormalities in different parts of the oral cavity. This finding should be taken into consideration in planning and performing surgical interventions on intranasal structures.