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.
View Article and Find Full Text PDFOtitis media (OM) and its recurring (rAOM), effusive (OME), and chronic forms, represent a frequent clinical challenge. The middle ear, the mandible, and the temporomandibular joint (TMJ) share several embryological and anatomical connections. Despite that, the role of mandibular malposition and TMJ dysfunction is frequently overlooked in the management of otitis media.
View Article and Find Full Text PDFActa Otorhinolaryngol Ital
October 2021
Objectives: To evaluate the association between upper airway obstruction and occlusal anomalies in mouth-breathing children.
Methods: 356 mouth-breathing children were evaluated by ENT physicians and specialists in orthodontics. ENT examination included nasal endoscopy to assess the adenoidal hypertrophy, tonsillar grading and presence of nasal septum deviation.
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.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
October 2021
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.
View Article and Find Full Text PDFMemory B cells (MBCs) epitomize the adaptation of the immune system to the environment. We identify two MBC subsets in peripheral blood, CD27 and CD27 MBCs, whose frequency changes with age. Heavy chain variable region (VH) usage, somatic mutation frequency replacement-to-silent ratio, and CDR3 property changes, reflecting consecutive selection of highly antigen-specific, low cross-reactive antibody variants, all demonstrate that CD27 and CD27 MBCs represent sequential MBC developmental stages, and stringent antigen-driven pressure selects CD27 into the CD27 MBC pool.
View Article and Find Full Text PDFBackground: Retropharyngeal and parapharyngeal abscesses (RPAs, PPAs) usually affect young children. Surgical drainage and/or antibiotic therapy are treatment of choice, but no specific guidelines exist. In order to reduce the risk of severe complications, appropriate diagnosis and therapy are necessary.
View Article and Find Full Text PDFIntroduction: Juvenile recurrent parotitis (JRP) is characterized by recurrent episodes of painful parotid swelling, generally associated with non-obstructive sialectasia of the parotid gland. The aim of this study was to evaluate the diagnostic and therapeutic effectiveness of sialography in children affected by JRP.
Methods: Clinical records of 110 outpatients with a diagnosis of JRP followed up from 2008 to 2017 at the Unit of Paediatric Otorhinolaryngology, Surgery Department of the Bambino Gesù Children's Hospital of Rome, were retrospectively reviewed.
Eur J Paediatr Dent
March 2019
Aim: Alterations in craniofacial growth have been associated with obstructive sleep apnoea in children. The main objectives of this study were to analyse the correlation between cephalometric variables and Obstructive Apnea/Hypopnea Index (OAHI) in order to investigate if craniofacial features may influence the severity of obstructive sleep apnoea and to study the correlation between upper nasopharyngeal width and maxillomandibular skeletal discrepancy in sagittal and vertical plane.
Materials And Methods: Study Design: Correlations between cephalometric variables and obstructive sleep apnoea/hypopnea index and between upper airways space and maxillomandibular skeletal discrepancy were investigated.
Children with Down Syndrome (DS) suffer from immune deficiency with a severe reduction in switched memory B cells (MBCs) and poor response to vaccination. Chromosome 21 (HSA21) encodes two microRNAs (miRs), miR-125b, and miR-155, that regulate B-cell responses. We studied B- and T- cell subpopulations in tonsils of DS and age-matched healthy donors (HD) and found that the germinal center (GC) reaction was impaired in DS.
View Article and Find Full Text PDFActa Otorhinolaryngol Ital
April 2018
Emerging and re-emerging infectious disease in otorhinolaryngology (ENT) are an area of growing epidemiological and clinical interest. The aim of this section is to comprehensively report on the epidemiology of key infectious disease in otorhinolaryngology, reporting on their burden at the national and international level, expanding of the need of promoting and implementing preventive interventions, and the rationale of applying evidence-based, effective and cost- effective diagnostic, curative and preventive approaches. In particular, we focus on i) ENT viral infections (HIV, Epstein-Barr virus, Human Papilloma virus), retrieving the available evidence on their oncogenic potential; ii) typical and atypical mycobacteria infections; iii) non-specific granulomatous lymphadenopathy; iv) emerging paediatric ENT infectious diseases and the prevention of their complications; v) the growing burden of antimicrobial resistance in ENT and the strategies for its control in different clinical settings.
View Article and Find Full Text PDFKBG 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.
View Article and Find Full Text PDFUnlabelled: 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.
View Article and Find Full Text PDFActa Otorhinolaryngol Ital
August 2016
This clinical report describes a child suffering from obstructive sleep apnoea (OSA) and class II skeletal malocclusion with maxillary contraction and anterior open bite. He presented moderate obstructive sleep apnoea with large impact on quality of life of patient and parents. He was treated using an innovative orthodontic device (Sleep Apnea Twin Expander) to simultaneously carry out palatal expansion and mandibular advancement.
View Article and Find Full Text PDFEur Rev Med Pharmacol Sci
October 2015
Objective: The combination of inhaled corticosteroids (ICS) and long-acting beta-agonists (LABAs) is recommended for the treatment of patients with mild-to-severe persistent asthma. However, given the lack of definite and safe therapies, complementary or alternative medicines are frequently used by asthmatic patients in combination with standard treatments.
Patients And Methods: A group of asthmatic subjects have been enrolled in this multicenter study; after having verified the compliance to their current medical therapy (ICS + LABAs), the subjects have been randomized to receive Casperome® 500 mg/day or no additional treatment for a period of 4 weeks.
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.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
December 2009
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.
View Article and Find Full Text PDFRelapsing polychondritis (RP) is a rare disease of unknown etiology characterized by recurrent episodes of inflammation resulting in the destruction of cartilaginous tissues. We describe a young girl with RP unresponsive to conventional therapy.
View Article and Find Full Text PDFThe aim of our study was to evaluate the efficacy of adenotonsillectomy for the treatment of obstructive sleep apnea syndrome (OSA) in pediatric patients with Prader-Willi syndrome (PWS), and to describe the postoperative complications. Five patients (4 males; median age, 4.4 years; range, 1.
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