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.

Oral splint therapy in patients with Menière's disease and temporomandibular disorder: a long-term, controlled study.

PURPOSE: To assess the effect of oral splint therapy on audio-vestibular symptoms in patients with Menière's disease (MD) and temporomandibular disorder (TMD). METHODS: Retrospective case-control study. Treatment group: 37 patients with MD and TMD who received gnatological treatment. CONTROL GROUP: 26 patients with MD and TMD who had never received gnatological treatment. The number of vertigo spells in 6 months (primary endpoint), pure-tone audiometry average (PTA), MD stage, functional level, Dizziness handicap Index (DHI), Tinnitus handicap Index (THI) and Aural Fullness Scale (AFS) were compared at baseline and after 24 months according to groups. Analysis of Covariance was used to determine the treatment effect. RESULTS: Groups were comparable for demographic, clinical data, baseline PTAs and the number of vertigo spells. Analysis of covariance showed a significant effect of gnathological treatment on number of vertigo spells ([Formula: see text] = 0.258, p < 0.001), PTA ([Formula: see text] = 0.201, p < 0.001), MD stage ([Formula: see text] = 0.224, p < 0.001), functional level ([Formula: see text] = 0.424, p < 0.001), DHI ([Formula: see text] = 0.421, p < 0.001), THI ([Formula: see text] = 0.183, p < 0.001), but not for AFS ([Formula: see text] = 0.005, p = 0.582). The treatment group showed vertigo control of class A in 86.5% and class B in 13.5% of patients. In the control group, vertigo control was of class A in 19.2% of patients and class B in 11.5%, class C in 30.8%, class D in 11.5%, class E in 19.2% and class F in 7.7%. Classes of vertigo control differed significantly (X2 test, p < 0.001). CONCLUSIONS: Oral splint therapy could represent a viable treatment in patients with TMD and uncontrolled MD disease. The effects are maintained at least after 2 years.

Association between upper airway obstruction and malocclusion in mouth-breathing children.

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. Clinical orthodontic examination was performed to record occlusal variables. Univariate and multivariable logistic regression were performed to study the association between registered variables. RESULTS: 221 patients (mean age ± sd = 6.2 ± 2.5 years) met inclusion criteria. 81.4% of children presented malocclusion. A significant association between tonsillar grade 2 and the presence of malocclusion, Class II relation and increased overjet was shown. Tonsillar grade 4 showed a significant association with the presence of malocclusion and increased overjet. Adenoidal hypertrophy and nasal septum deviation did not show any association with occlusal findings. CONCLUSIONS: A high frequency of orthodontic problems was seen in mouth-breathing children. Our results suggested that severe tonsillar hypertrophy may determine presence of malocclusion and increased overjet. On the other hand, the association between mild tonsillar hypertrophy and many occlusal anomalies in mouth-breathers suggest an important role of malocclusion in the onset of oral breathing in children.

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.

Deep Neck Abscesses in Children: An Italian Retrospective Study.

BACKGROUND: 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. The aims of the study were to review diagnosis and management of children with RPAs/PPAs and to compare surgical versus medical approach. METHODS: This is a multicenter retrospective study including all patients younger than 15 years admitted at 4 Italian pediatric hospitals of Florence, Padua, Rome, and Treviso, with International Classification of Diseases, Ninth Revision discharge diagnosis code of RPAs and PPAs, from January 1, 2008, to December 31, 2016. RESULTS: One hundred fifty-three children were included. The median age was 4.4 years, with overall male predominance. Heterogeneous signs and symptoms (fever, neck cervical, lymphadenopathy, pain, and stiff neck most frequently) and a large mixture of bacteria from pus cultures were detected. Computer tomography (66.7%) and magnetic resonance imaging (27.5%) were performed to confirm the presence of abscess. Fifty-one percent of abscesses were greater than 3 cm. Eighty-seven patients (56.9%) underwent surgery, and 66 (43.1%) were treated with antibiotics alone (mostly ceftriaxone, metronidazole, amikacin, and clindamycin) with median days of therapy of 26.5 days and length of therapy of 16.0 days of median. Median length of stay was 11 days. None had severe complications. Multivariate analysis indicated as independent predictive factors of surgery abscess of 3 cm or greater, high white blood cell count, and-most of all-the hospital of admission. CONCLUSIONS: Deep neck abscesses mostly affect patients in early childhood, with a combination of nonspecific signs and symptoms, and it still emerges as a heterogeneous approach in diagnosis and management of these infections. Thus, common shared protocols represent an essential tool in order to standardize care and improve patients' outcomes.

The Interplay between CD27dull and CD27bright B Cells Ensures the Flexibility, Stability, and Resilience of Human B Cell Memory.

Memory B cells (MBCs) epitomize the adaptation of the immune system to the environment. We identify two MBC subsets in peripheral blood, CD27dull and CD27bright 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 CD27dull and CD27bright MBCs represent sequential MBC developmental stages, and stringent antigen-driven pressure selects CD27dull into the CD27bright MBC pool. Dynamics of human MBCs are exploited in pregnancy, when 50% of maternal MBCs are lost and CD27dull MBCs transit to the more differentiated CD27bright stage. In the postpartum period, the maternal MBC pool is replenished by the expansion of persistent CD27dull clones. Thus, the stability and flexibility of human B cell memory is ensured by CD27dull MBCs that expand and differentiate in response to change.

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.

Juvenile recurrent parotitis: Diagnostic and therapeutic effectiveness of sialography. Retrospective study on 110 children.

INTRODUCTION: 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. Data on demographics, number of acute episodes/year, course of disease, site of symptoms and duration of follow up were collected. The inclusion criteria were: at least two or more episodes of intermittent swelling of the parotid glands on one side or both sides during the last 6 months, age <16 years. Exclusion criteria were: obstructive lesions, dental malocclusion, Sjogren syndrome, congenital IgA immunodeficiency, and relevant systemic diseases. Outcome of the procedure was measured by evaluating number and degree of episodes of parotid swelling before and after sialography. RESULTS: Sialography has been shown in all cases to be a valid method in the diagnosis of JRP. Following the execution of the sialography, in 98 patients (89% of cases) there was a statistically significant improvement of disease with a mean reduction of 67.4% of episodes of parotid swelling (p < 0.05). In 75 patients there was marked improvement of the symptomatology (p < 0.05). In 23 patients partial resolution occurred (p < 0.05); in 12 patients there was no resolution or a reduction less than 30% of episodes (p > 0.05). There was a statistically significant relationship between the number of attacks/year and the degree of glandular function, pre and post-sialography in 2-way ANOVA test (p < 0.05). CONCLUSION: Sialography is effective method not only as a diagnostic procedure but also as a therapeutic procedure in treatment of JRP. It is a method that can be carried out in ambulatory setting, without anaesthesia, with a minimum cost and with a very low rate of complications. In a disease with tendency to spontaneous resolution like JRP, sialography represent a therapeutic option alternative to more invasive treatment.

Dysregulated miR-155 and miR-125b Are Related to Impaired B-cell Responses in Down Syndrome.

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. GC size, numbers of GC B cells and Follicular Helper T cells (TFH) expressing BCL6 cells were severely reduced. The expression of miR-155 and miR-125b was increased in tonsillar memory B cells and miR-125b was also higher than expected in plasma cells (PCs). Activation-induced cytidine deaminase (AID) protein, a miR-155 target, was significantly reduced in MBCs of DS patients. Increased expression of miR-155 was also observed in vitro. MiR-155 was significantly overexpressed in PBMCs activated with CpG, whereas miR-125b was constitutively higher than normal. The increase of miR-155 and its functional consequences were blocked by antagomiRs in vitro. Our data show that the expression of HSA21-encoded miR-155 and miR-125b is altered in B cells of DS individuals both in vivo and in vitro. Because of HSA21-encoded miRs may play a role also in DS-associated dementia and leukemia, our study suggests that antagomiRs may represent pharmacological tools useful for the treatment of DS.

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.

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.