Upper respiratory tract manifestations in patients with ANCA-associated vasculitides and their association with the presence and type of ANCA

Aim of the work – to compare the frequency of upper respiratory tract (URT) involvement in patients with ANCAassociated vasculitides (AAV), to reveal its main clinical and radiological patterns and to estimate their association with the serological profile (ANCA presence and type).Material and methods. This retrospective study evaluated 369 patients with granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA). The enrolled patients were diagnosed with AAV according to the ACR criteria, CHCC classification (2012) and EMA algorithm. Patients with URT manifestations underwent standard ENT assessment and X-ray/CT. Serum ANCA levels were measured by ELISA.Results. URT involvement was diagnosed in 280 (75.9%) patients with AAV. It was significantly more common amongthe patients with GPA (86.4%) and EGPA (85.5%) compared with the MPA group (29.2%) (p<0.001).URT manifestations mainly appeared as sinusitis (77.2% – GPA; 33.3% – MPA; 70.8% – EGPA) and rhinitis with crusting (87.8%, 72.2% and 16.9% respectively).Proteinase 3 ANCA positive patients had a significantly higher incidence of bone destructive URT lesions, including sinuses wall destruction (p<0.001) and saddle nose deformity (p=0.016), compared with myeloperoxidase-ANCA-positive patients. Similar results were obtained in the GPA group separately.Localized disease with isolated URT involvement was observed in 41.3% cases of ANCA negative GPA (p<0.001).Conclusion. The frequency and patterns of upper respiratory tract manifestations depend both on the nosologic form of AAV and type of ANCA. Localized forms of URT involvement can be observed in patients with GPA and are closely associated with absence of ANCA, which determines the need for especially high suspicion level.

Congenital Cyst and Fistula of the Dorsum of the Nose: A Case Report and Literature Review

Congenital cyst and fistula of the dorsum of the nose is a rare congenital entity. We report a new case of dorsum nasal fistula in a 5 years old male patient that communicates the frontal region with the subcutaneous surface. Radiologic imaging showed a median 5mm defect, in the projection of the metopic suture that leads to a communication between the frontal region and the skin figure. Complete resection was performed by an external approach with vertical incision of the cyst. The histological diagnosis was consistent with a dermoid fistulized cyst. The follow-up displayed unremarkable finding, the patient did not present any diplopia nor decreased visual acuity, or any signs of meningitis or cerebrospinal fluid rhinorrhoea, or saddle nose.

Nose-down saddle tilt improves gross efficiency during seated uphill cycling

Riding uphill presents a challenge to competitive and recreational cyclists. Based on only limited evidence, some scientists have reported that tilting the saddle nose down improves uphill-cycling efficiency by as much as 6%. Purpose: Here, we investigated if simply tilting the saddle nose down increases efficiency during uphill cycling, which would presumably improve performance. Methods: Nineteen healthy, recreational cyclists performed multiple 5-min trials of seated cycling at ~3 W kg–1 on a large, custom-built treadmill inclined to 8° under two saddle-tilt angle conditions: parallel to the riding surface and 8° nose down. We measured subjects’ rates of oxygen consumption and carbon dioxide production using an expired-gas analysis system and then calculated their average metabolic power during the last two min of each 5-min trial. Results: We found that, compared to the parallel-saddle condition, tilting the saddle nose down by 8° improved gross efficiency from 0.205 to 0.208 –– an average increase of 1.4 ± 0.2%, t = 5.9, p &lt; .001, CI95% [0.9, 1.9], ES = 1.3. Conclusion: Our findings are relevant to competitive and recreational cyclists and present an opportunity for innovating new devices and saddle designs that enhance uphill cycling efficiency. The effect of saddle tilt on other slopes and the mechanism behind the efficiency improvement remain to be investigated.

Rapid Palatal Expansion Should Not Be Trivialized: Two Case Reports of Unexpected Complications

Rapid maxillary expansion is one of the most common orthodontic procedures performed in the pediatric population, easy to accomplish and compliance free, therefore really effective. Nevertheless, a careful diagnosis and frequent clinical follow-up appointments are necessary during the first weeks of active treatment. The purpose of this article was to report two cases of unexpected complications during orthopaedic maxillary expansion, involving two 7-year-old female patients, one presenting a saddle nose with suborbital hematoma and the other one an asymmetric palatal expansion. In both cases, the clinical situation progressively relapsed during the months following expansion appliance removal.

Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family

Here we report the first familial case spread through at least three generations, genetically verified cases of Marshall-Stickler syndrome in Bulgaria. The proband, a 2-year-old girl, has craniofacial dysplasia, ocular hypertelorism, small saddle nose with a flat bridge and midface hypoplasia. The pedigree of the proband’s family showed that her father has the same clinical manifestations of the disease. In addition, her father presented with a tall, thin stature and mild hearing loss, manifested with aging. The same dysmorphological symptoms were presented by the paternal grandfather. Both patients, the 2-year-old girl and her father, have been diagnosed to carry Marshall-Stickler syndrome. The COL2A1 gene tested negative in the family. Based on the higher percentage of mutations in the COL2A1 gene, we analyzed this gene as the first target in the family. The COL2A1 gene tested negative, and we sequenced the gene further. A novel splice site mutation c.3474+1G>A was found in intron 44. This variant is related to the clinical presentation in the patient and her father. The c.3474+1G>A mutation results in altered splicing affects at the donor splice site of intron 44, which most probably gives a nonfunctional protein. The variant affects the major triple-helical domain that represents a mutation hot-spot for the gene.

POS0249 THE EFFECT OF NASAL STAPHYLOCOCCUS AUREUS COLONIZATION ON DISEASE ACTIVITY AND THE EFFECT OF ANTIBIOTIC TREATMENT IN PATIENTS WITH ANCA ASSOCIATED VASCULITIS; A RETROSPECTIVE COHORT STUDY

Background:Antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) is a necrotizing vasculitis, predominantly affecting small or medium vessels with few or no immune deposits. Ear, nose and throat (ENT) involvement in AAV is frequently present. AAV has a relapsing-remitting disease course. A factor that has been associated with induction of relapses is nasal Staphylococcus aureus (S. aureus) colonization. This alleged association between nasal colonization and induction of relapses has resulted in the use of antibiotics. However, the effect of antibiotic treatment on disease activity remains controversial. Some studies showed a beneficial effect of antibiotic treatment whereas other studies found no effect of antibiotic treatment on disease activity.Objectives:The aim of this study was to identify the role of nasal S. aureus colonization and the effect of systemic or local antibiotic treatment on disease activity in patients with AAV.Methods:Clinical, laboratory and histological data from all AAV patients with ENT involvement, diagnosed in two medical centers between 1981 and 2020, were retrospectively collected. Nasal S. aureus colonization was defined as at least one positive nasal swab during follow-up. Data on systemic (cotrimoxazole and azithromycin) and local antibiotics (mupirocin) use was collected. Disease activity was divided into systemic and local disease activity. Systemic disease activity consisted of history of relapses, relapse number per patient years and Birmingham vasculitis activity score version 3 (BVAS3) at last visit. Local disease activity included history of ENT relapses, development of saddle nose deformity or subglottic stenosis during follow-up.Results:Two-hundred and thirteen patients were included in the analysis. Median follow-up time was 8 (IQR 3 -17) years. S. aureus colonization was tested in 100 (46.9%) cases of which 44 patients tested positive. Only one patient developed a subglottic stenosis, and 13 patients developed a saddle nose deformity during follow-up. Systemic and local disease activity at baseline and at last visit were comparable between patients with and without and S. aureus colonization. Regression analysis showed no difference in relapse number per patient year between AAV patients colonized with S. aureus versus non-colonized patients (RR 2.03; 95%CI, 0.97 – 4.26, p=0.06). This also accounted for local ENT relapses (OR 0.134; 95%CI 0.06-1.47, p=0.14) and saddle nose deformity (OR 0.61; 95%CI 0.04-10.68, p=0.74). Twenty-eight (13.1%) S. aureus positive patients received antibiotics aimed at eradication of S. aureus. Twenty-two (10.3%) received cotrimoxazole, 2 (0.9%) received azithromycin and 17 (8.0%) patients received mupirocin ointment. No significant difference was found between the treated versus non-treated group with regard to systemic and local disease activity.Conclusion:Nasal S. aureus colonization does not influence systemic or local disease activity. Antibiotic eradication treatment did not modify disease activity in this study.Table 1.Effect of AB treatment on disease activity of 40 AAV patients with ENT involvement and S. aureus colonizationDisease activityAntibiotic treatmentP-valueYes (n=28)No (n=12)Systemic symptomsHistory of one or more relapses, n (%)18 (47.4%)4 (10.5%)0.635Relapse number per patient years, median (IQR) *0.11 (0-0.18)0.17 (0.02 – 0.26)0.346BVAS3 last visit, median (IQR)1 (0-4)1 (0-4)0.932Local symptomsHistory of one or more ENT relapses, n(%) *9 (33.3%)3 (11.1%)0.438Development of saddle nose deformity during follow-up, n (%) *4 (12.1%)0 (0%)0.367Values are median (interquartile range IQR) or n (%). BVAS3: Birmingham Vasculitis Activity Score version 3; ANCA: Anti-Neutrophilic Cytoplasmic Autoantibody; AAV: ANCA associated vasculitis; ENT: ear, nose and throat. * More than 10% missings in analysis. For an overview of the number of included patients per analysis, see supplementary table B.Disclosure of Interests:None declared

Visible disability as a presenting feature of leprosy: a rare but real concern in post-elimination phase in India

<p class="abstract">Leprosy (Hansen's disease) is a chronic infectious disease caused by <em>Mycobacterium leprae</em>, affecting mainly peripheral nerves and skin. Delayed diagnosis contributes to sensory-motor impairment leading to deformity and disability, thereby imposing a major impact on the physical, social, economic and psychological domains of the quality of life of affected individuals. Deformities and disabilities are largely preventable complications associated with tremendous social stigma and discrimination, assuming public health significance. India declared elimination of leprosy more than a decade and half ago in 2005. Hence, grade 2 disability is expected to be a rare manifestation in the post-elimination era. However, to the contrary, the proportion of new leprosy patients with visible disability recorded in India exceeds the global rate. Herein we report a middle-aged female presenting with saddle nose, bilateral fixed ulnar and mobile median claw hands (grade 2 disability) with multiple trophic ulcers. This case emphasizes that clinical suspicion after careful examination of skin and neural manifestations is of utmost importance for the early diagnosis of leprosy. Timely self-reporting and management with WHO-multi drug therapy (MDT) remains the key to minimize the risk of deformity and disability. Above all, it is essential to create awareness amongst the community regarding prompt recognition of symptoms and easy access to appropriate care along with intensified efforts to address the associated stigma.</p>

A Case Report of Spontaneous Nasal Septal Abscess in a Child

We describe a case of spontaneous nasal septal abscess (NSA) in a 9-year-old child. We also reviewed the literatures in recent years and summarized the characteristics of NSA, such as gender, age, inducement, pathogenic bacteria, treatment, and prognosis. We found that this boy reported by us has the most extensive abscess. May be the delay of treatment was related to the recent fluctuation of COVID-19 epidemic in China. Fortunately, with the help of surgery and anti-infection treatment, the boy was discharged from the hospital without septal perforation or saddle nose.

Computer-Aided Rhinoplasty Using a Novel “navigated” Nasal Osteotomy Technique: A Pilot Study

Objective: To describe the surgical technique of navigation-guided nasal osteotomies and assess feasibility of this technique for treating complex nasal bone deformities in reconstructive rhinoplasty. Methods: A retrospective chart review was performed in order to identify patients who underwent computer-aided rhinoplasty from August 2014 to February 2017. Inclusion criteria were nasal bone deformities on computed-tomography (CT) that correlated with specific nasal complaints. All patients underwent computer-aided rhinoplasty with navigation-guided nasal osteotomies using a standard navigation system. Osteotomies were performed using real-time visualization on the navigation screen. Additional soft tissue procedures were performed as needed. Medical records were reviewed for presenting symptoms, radiologic and operative findings, and postoperative course. Cosmetic outcomes were subjectively based on patients’ standard 6-view photo-documentation from pre- and post-operative timepoints. Results: Twenty-one patients were included in the study; 8 were revision cases and 3 had mild-to-moderate hemifacial microsomia. Fifteen were completely closed procedures. No cases were opened because of inadequate visualization or difficulty accessing bony pathology. Mean (range) follow up was 98.6 (6-559) days. There were no intra-operative complications, unplanned admissions or re-admissions, or iatrogenic cosmetic complications (ie, “inverted V” or “saddle nose” deformities). Two patients required revision. One was after suffering nasal trauma within 4 weeks of initial rhinoplasty. The second underwent further correction of a deformity that required a costochondral graft. Both experienced good final results. Conclusions: Computer-aided rhinoplasty is safe and feasible for treating complex nasal deformities using standard navigation systems.