A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.

Background: Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP), which is reported in 6% of children with PCD. The forms of PCD associated with the variants of the GAS8 gene identified so far seem to be linked to recurrent respiratory infections (sinusitis, otitis, and bronchiectasis) without situs inversus. Case presentation: We report a case of an 11-year-old girl with recurrent otitis media, productive cough, and chronic rhinosinusitis with nasal polyposis with homozygosity for a novel nonsense mutation in the GAS8. Conclusion: Children with CRSwNP should be treated in a multidisciplinary manner (ENT, pulmonologist, allergist, pathologist, pediatrician, and geneticist) because nasal polyposis often hides etiologies that must be recognized.

Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly.

Holoprosencephaly is a complex human brain malformation resulting from incomplete cleavage of the prosencephalon into both hemispheres. Congenital nasal pyriform aperture stenosis (CNPAS) is sometimes found in patients with mild forms of holoprosencephaly. Surgical treatment is required. Low-invasive surgical approaches involve balloon dilation of the pyriform opening. We present the case of an 8-day-old girl diagnosed with holoprosencephaly, CNPAS, and the presence of a solitary median maxillary central incisor. Once examined by neonatologist, geneticist, pneumologist, otolaryngologist, and pediatric dentist, a combined otolaryngological-orthodontic approach was used. The obstruction of the right nasal cavity was treated by widening the nasal cavities and stabilizing them with a balloon dilation technique. After surgery, the respiratory space was increased by applying a neonatal palatal expander plate (NPEP) considering the palatal deformity: ogival shaped, anterior vertex growth direction, reduction of transverse diameters. The NPEP promoted distraction of the median palatine suture and assisted the nasal dilation. Therefore, after the insertion of NPEP, the physiological sucking-swallowing mechanism was activated. In infants with CNPAS, NPEP can be useful to ensure the safe stability of nasal dilation. A multidisciplinary approach is fundamental. In our experience, the close collaboration between an otolaryngologist and orthodontist is essential for the management of the patient with CNPAS.

Juvenile psammomatoid ossifying fibroma of the ethmoid sinus successfully treated by endoscopic sinus surgery: a case report.

Background: Juvenile ossifying fibromas (JOF) are benign osteofibrous tumors very rarely located in paranasal sinus. The diagnostic and therapeutic tools applied in sinonasal inflammatory pathologies and other tumors fail to address a specific management in this rare pathology. Currently, the only available treatment is surgery. Endoscopic sinus surgery (ESS) allows a complete but minimally invasive approach compared to the open technique, especially for the minor demolition on growing bone structures. Case Description: We describe a case of a 13-year-old boy presenting in the Emergency Department for a head trauma. The computerized tomography (CT) revealed an ethmoid-maxillary bony mass suspected to be a juvenile ossifying fibroma. The patient underwent ESS. Histological examination confirmed a juvenil psammomatoid ossifyng fibroma (JPOF). A revision surgery with the same technique was required after 7 months due to relapse of the tumor. He did not develop postoperative complications. The 3-years follow-up did not show any signs of relapse. Conclusions: Paranasal JOF is a challenge for the ear-nose-throat (ENT) surgeon. The principles of local disease control for relapse reduction are different from inflammatory diseases and other paranasal tumors. Severe organ damage and recurrences are possible if caution is not observed. Specific guidelines about management are required on the basis of the shared experiences in the few cases reported in literature.

Endotypes of Nasal Polyps in Children: A Multidisciplinary Approach.

Nasal polyps (NPs) are rarely reported in childhood and usually represent red flags for systemic diseases, such as cystic fibrosis (CF), primary ciliary dyskinesia (PCD) and immunodeficiencies. The European Position Paper released in 2020 (EPOS 2020) provided a detailed classification and defined the correct diagnostic and therapeutic approaches. We report a one-year experience of a multidisciplinary team, made up of otorhinolaryngologists, allergists, pediatricians, pneumologists and geneticists, with the aim of ensuring a personalized diagnostic and therapeutic management of the pathology. In 16 months of activity, 53 patients were admitted (25 children with chronic rhinosinusitis with polyposis and 28 with antro-choanal polyp). All patients underwent phenotypic and endo-typic assessment, using proper classification tools for nasal pathology (both endoscopic and radiological), as well as adequate cytological definition. An immuno-allergic evaluation was carried out. Pneumologists evaluated any lower airway respiratory disease. Genetic investigations concluded the diagnostic investigation. Our experience enhanced the complexity of children's NPs. A multidisciplinary assessment is mandatory for a targeted diagnostic and therapeutic pathway.

Effects of Rapid Palatal Expansion on the Upper Airway Space in Children with Obstructive Sleep Apnea (OSA): A Case-Control Study.

Obstructive Sleep Apnea (OSA) in children needs a multidisciplinary approach. Even if the first-line treatment of pediatric OSA is adenotonsillectomy, nowadays rapid palatal expansion (RPE) is considered a valid additional treatment. The aim of this study is to evaluate cephalometric changes in upper airways dimensions after rapid palatal expansion (RPE) in children suffering from Obstructive Sleep Apnea (OSA). A total of 37 children (range age 4-10 years) with diagnosis of OSA referred to Dentistry Unit of Bambino Gesù Children's Research Hospital IRCCS (Rome, Italy) were included in this pre-post study and underwent lateral radiographs at the start (T0) and at the end (T1) of a RPE treatment. Inclusion criteria were: diagnosis of OSA confirmed by cardiorespiratory polygraphy (AHI > 1) or pulse oximetry (McGill = >2), skeletal maxillary contraction evaluated by presence of posterior crossbite. A control group of 39 untreated patients (range age 4-11 years), in good general health, was set up. A paired T-test was used to investigate the statistical differences between T0 and T1 values in both groups. The results showed a statistically significant increase of nasopharyngeal width in the treated group after RPE treatment. Moreover, the angle that identifies mandibular divergence compared to palatal plane (PP-MP°) was significantly reduced. In the control group, no statistically significant differences were observed. The present study showed that RPE treatment determines a significant sagittal space increase in the upper airways space and a counterclockwise mandibular growth in children with OSA compared to a control group. These results suggest that a widening of the nasal cavities induced by RPE may support a return to physiological nasal breathing and promote a counterclockwise mandibular growth in children. This evidence confirms the crucial role of the orthodontist in the management of OSA in pediatric patients.

Prevention of recurrent respiratory infections : Inter-society Consensus.

Recurrent respiratory infections (RRIs) are a common clinical condition in children, in fact about 25% of children under 1 year and 6% of children during the first 6 years of life have RRIs. In most cases, infections occur with mild clinical manifestations and the frequency of episodes tends to decrease over time with a complete resolution by 12 years of age. However, RRIs significantly reduce child and family quality of life and lead to significant medical and social costs.Despite the importance of this condition, there is currently no agreed definition of the term RRIs in the literature, especially concerning the frequency and type of infectious episodes to be considered. The aim of this consensus document is to propose an updated definition and provide recommendations with the intent of guiding the physician in the complex process of diagnosis, management and prevention of RRIs.

Balloon dilation and rapid maxillary expansion: a novel combination treatment for congenital nasal pyriform aperture stenosis in an infant.

BACKGROUND: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare condition that may occur alone or as part of a multi-formative syndrome. Management remains difficult. There is no specific treatment protocol. Traditional surgery would be anachronistic; a non-invasive or minimally invasive therapeutic option is required. However, the rarity of the disease and the infantile context render randomised clinical trials difficult. CASE PRESENTATION: We present the case of a one-month-old Caucasian boy with CNPAS. He presented to the Emergency Department of the Bambino Gesù Pediatric Hospital with nasal obstruction, noisy breathing, feeding difficulties, and suspected sleep apnoea. During hospitalisation, he underwent overnight pulse oximetry, airway endoscopy, and maxillofacial computed tomography (CT); the final diagnosis was CNPAS with moderate obstructive sleep apnoea syndrome. We successfully treated the patient using an innovative strategy that involved collaboration between ear-nose-and-throat surgeons and orthodontists. CONCLUSIONS: A combination of minimally invasive balloon surgery and placement of a palatal device may successfully treat CNPAS; it may also treat other types of nasal bone stenosis. Future studies may allow the development of practice consensus treatment strategies.

Needle aspiration of lateral neck abscess in children: A simple and effective treatment.

BACKGROUND: Cervical abscesses frequently occurred in pediatric patients. Surgical drainage is currently recommended in the cases not responding to medical therapy. Needle aspiration may represent a simple, effective and minimally invasive treatment for acute neck suppuration in selected cases. OBJECTIVE: To evaluate the effectiveness of needle aspiration in the treatment of cervical abscesses in pediatric age as an alternative to surgical drainage. METHODS: From November 2013 to November 2019, at the ENT Department of the "Bambino Gesù" Pediatric Hospital, Rome, we treated 47 children with cervical abscess by performing aspiration with a 19 G needle in wakefulness after applying local anesthetic. Parenteral antibiotic treatment was associated with all patients both before and after treatment. RESULTS: Complete regression of the abscess occurred in 46 children with no evidence of recurrence in the follow-up period. Surgical drainage was required in only one patient due to the lack of resolution of the abscess episode. No complications such as hematomas or hypertrophic scars were found in any patient. CONCLUSIONS: Our results confirm the effectiveness of needle aspiration in the treatment of cervical abscesses in children as an alternative to surgical drainage.

Pilot study to explore the prophylactic efficacy of oral probiotic Streptococcus salivarius K12 in preventing recurrent pharyngo-tonsillar episodes in pediatric patients.

Background: In the pediatric population, acute pharyngo-tonsillitis represents one of the most frequent causes of access to outpatient treatment and use of antibiotics. In frequent tonsillitis, the pharmacological approach is no longer effective, and, therefore, surgery becomes the treatment of choice. Methods: This study compares the prophylactic efficacy of Streptococcus salivarius K12 (Bactoblis®) in children with recurrent pharyngo-tonsillitis treated vs untreated, with a 12 -month follow-up. The primary objectives are: The incidence of recurrence of pharyngo-tonsillar episodes and the concomitant use of other drugs. Secondary objectives are: tolerability of the treatment, the effectiveness in terms of clinical improvement, days of absence from school, reduction of the use of standard therapies, and cancellation from the surgical planning list. Results: Patients belonging to group A (treated with K12 for 90 days) were 24 males and 26 females, mean age 6.6 years (SD=1.57), those belonging to group B (untreated) were 23 males and 27 females, average age 6.8 years (SD=1.72). In the follow-up, group A reported 26 inflammatory pharyngo-tonsillary episodes in the first trimester, unlike group B, who reported 72 in the second trimester. This has shown a lower incidence (3.38%) of the disease compared to group B (6.66%), for a total of 169 inflammatory pharyngo-tonsillary episodes in group A against 333 in group B. A reduction in days of school absence of 429 days in group A and 927 days in the control group (P<0.01) was also noted. Finally, 14 children of group A (28%) underwent adenotonsillectomy, against the whole group B. No adverse events were reported. Conclusion: The efficacy of K12 on the prevention of pharyngo-tonsillar infections, the decrease in the use of antibiotics and the improvement of the overall quality-of-life was confirmed, with a decreased number of absences from school and fewer patients undergoing surgery.

Prevalence of malocclusion in children with obstructive sleep apnoea.

OBJECTIVES: To describe the prevalence of malocclusions in 2- to 10-year-old children suffering from obstructive sleep apnoea (OSA) and to evaluate the association between occlusal variables and OSA. SETTING AND SAMPLE POPULATION: A total of 2101 consecutive patients referred to an otorhinolaryngology unit were considered for the study. One hundred and fifty-six children (range 2-10 years) with suspected OSA were selected for a sleep study. The final sample consisted of 139 children suffering from OSA and a control group of 137 children. MATERIALS AND METHODS: All patients included in the study underwent a clinical orthodontic examination to record the following occlusal variables: primary canine relationship, presence of a posterior crossbite, overjet and overbite. Odds ratios and 95% confidence intervals, comparing the demographic characteristics and dental parameters in OSA vs non-OSA children, were computed. Multivariable logistic regression models were developed to compare independent variables associated with OSA to non-OSA children. RESULTS: The prevalence of malocclusions in children with OSA was 89.9% compared to 60.6% in the control group (P < 0.001). Factors independently associated with OSA compared to the control group were posterior crossbite (OR = 3.38; 95%CI:1.73-6.58), reduced overbite (OR = 2.43; 95%CI:1.15-5.15.), increased overbite (OR = 2.19; 95%CI:1.12-4.28) and increased overjet (OR = 4.25; 95%CI:1.90-9.48). CONCLUSIONS: This study showed a high prevalence of malocclusion in children with OSA compared to the control group. The posterior crossbite and deviations in overjet and overbite were significantly associated with OSA. The presence of these occlusal features shows the importance of an orthodontic evaluation in screening for paediatric OSA.

Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.

KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.

At-home pulse oximetry in children undergoing adenotonsillectomy for obstructive sleep apnea.

Nocturnal pulse oximetry has a high positive predictive value for polysomnographically diagnosed obstructive sleep apnoea (OSA) in children. When significant adenotonsillar hypertrophy is diagnosed, adenotonsillectomy (T&A) represents a common treatment for OSA in children. We investigated the role of pulse oximetry in predicting those patients, referred for suspected OSA, who subsequently needed T&A. At-home nocturnal pulse oximetry was performed on 380 children (65.7% males), median age 4.1(IRQ 3.0-5.6) years, referred for suspected OSA, and data were retrospectively analysed. For each recording McGill Oximetry Score (MOS) was categorized. Mean pulse rate (PR) z-score and pulse rate variability (PRV)-corrected (PRSD/meanPR) were significantly higher in children with abnormal MOS. Both parameters were significantly higher in subjects who underwent T&A compared with those not surgically treated. Both DI4 and PRV corrected showed a negative correlation with the elapsed time between pulse oximetry recordings and T&A. The logistic regression model showed a strong effect of an abnormal MOS as a predicting factor for T&A (adjusted odds ratio 19.7). CONCLUSIONS: In our study, children with OSA who subsequently needed T&A showed higher PRV compared to those without surgical indication. Children with abnormal MOS were nearly 20 times more likely to undergo T&A. What is Known: • Nocturnal pulse oximetry has a high positive predictive value for polysomnographically diagnosed obstructive sleep apnoea in children. • When significant adenotonsillar hypertrophy is diagnosed, adenotonsillectomy represents a common treatment for OSA in children. What is New: • An abnormal pulse oximetry highly predict the indication for adenotonsillectomy. • We suggest the use of at-home pulse oximetry as method to predict prescription of adenotonsillectomy, and this may be useful in contexts where polysomnography is not readily available.

Otolaryngologic manifestations of pediatric immunodeficiency.

Many adults and children with an underlying immunodeficiency can frequently present to ear, nose and throat (ENT) surgeons. This work deals with the presentation, investigation and management of immuno-compromised children in ENT practise. Both primary immunodeficiencies (PID) and secondary or acquired immunodeficiencies such as human immunodeficiency virus (HIV) infection are here discussed. The aim of this work is to give a complete and exhaustive description of ENT manifestations in immunodeficiency, and to outline basic principles to guide clinical practice.

Head and neck vascular anomalies in children.

Vascular lesions are the most common congenital and neonatal abnormalities. The aim of this work is to point out differences between various vascular anomalies, in order to define accurate diagnosis, and to present different therapeutic options now used for the treatment of the vascular lesions in children. According to biological classification described by the work of Mulliken and Glowacki there are two major types of vascular abnormality: haemangioma and vascular malformation. Haemangioma is a distinct biologic tumour entity characterised by rapid endothelial proliferation shortly after birth. The lesion is absent at birth and growth in early infancy, followed by a spontaneous resolution in childhood. Vascular malformations are structural anomalies that have a normal growth rate and endothelial turnover. According to the morphology of the vessels and the flow rate we distinguish: slow-flow and fast-flow vascular malformation. The authors document their personal experience in diagnosis, clinical evaluation, treatment and follow-up of the vascular lesions.