[Paramedian frontal clefts or superior orbital clefts].

Superior orbital frontal clefts are one of the rare craniofacial clefts described by Tessier in 1976, and occur most often sporadically. They are numbered 9, 10 and 11 in this classification, and are located respectively laterally, in the middle and medially to the upper part of the orbit. Their clinical expression is variable on soft tissue and bone, with possible dissociation of involvement.

Management of sleep-disordered breathing in patients with syndromic hemifacial macrosomia.

Purpose: Patients with syndromic hemifacial microsomia (SHFM) are at risk of obstructive sleep apnea (OSA). The aim of the study was to describe the prevalence of OSA and its management, especially in patients with Goldenhar syndrome (GS).

Methods: The respiratory polygraphies and clinical management of 15 patients, aged 2 to 23 years, evaluated at a national reference center, were analyzed.

Biallelic truncating variants in cause syngnathia in humans.

Background: Syngnathia is an ultrarare craniofacial malformation characterised by an inability to open the mouth due to congenital fusion of the upper and lower jaws. The genetic causes of isolated bony syngnathia are unknown.

Methods: We used whole exome and Sanger sequencing and microsatellite analysis in six patients (from four families) presenting with syngnathia.

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.

Introduction: Mandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear phenotype of MFDM patients, and train an Artificial Intelligence (AI)-based model to differentiate MFDM ears from non-syndromic control ears (binary classification), and from ears of the main differential diagnoses of this condition (multi-class classification): Treacher Collins (TC), Nager (NAFD) and CHARGE syndromes.

Methods: The training set contained 1,592 ear photographs, corresponding to 550 patients.

Real-time gastric juice analysis with EndoFaster for H. pylori diagnosis: a large, multicentre study.

Background: Helicobacter pylori infection is the main cause of the most frequent gastroduodenal diseases. Because its prevalence is decreasing in developed countries, gastric biopsies are negative in several patients. By measuring ammonium in the gastric juice, EndoFaster allows to exclude H.

Guidelines of the Italian societies of gastroenterology on the diagnosis and management of coeliac disease and dermatitis herpetiformis.

Introduction: Coeliac disease and dermatitis herpetiformis are immune-mediated diseases triggered by the consumption of gluten in genetically predisposed individuals. These guidelines were developed to provide general practitioners, paediatricians, gastroenterologists, and other clinicians with an overview on the diagnosis, management and follow-up of coeliac patients and those with dermatitis herpetiformis.

Methods: Guidelines were developed by the Italian Societies of Gastroenterology.

Real-time determination of gastric juice pH with EndoFaster® for atrophic gastritis assessment.

Background: In patients with atrophic gastritis involving gastric body mucosa the pH value of gastric juice is distinctly increased, so that pH assessment would allow predict this precancerous lesion. We tested whether EndoFaster® - a device allowing real-time pH measure and H. pylori diagnosis - may optimize the need of taking gastric biopsies.

Mandibular magnetic distractor: preclinical validation.

The feasibility of magnetic activation for mandibular distraction has been demonstrated previously. In this study, we developed a biocompatible device to evaluate the feasibility of distraction in cadaveric subjects and the functionality of the device in bench tests. To confirm, considering the dimension of the distractor, that the torque applied on the internal magnet would be sufficient to activate distraction osteogenesis we measured, for different distances, the transmitted torque between a magnet (internal and external).

Biomineralization of lithium nanoparticles by Li-resistant Pseudomonas rodhesiae isolated from the Atacama salt flat.

Background: The Atacama salt flat is located in northern Chile, at 2300 m above sea level, and has a high concentration of lithium, being one of the main extraction sites in the world. The effect of lithium on microorganism communities inhabiting environments with high concentrations of this metal has been scarcely studied. A few works have studied the microorganisms present in lithium-rich salt flats (Uyuni and Hombre Muerto in Bolivia and Argentina, respectively).

Cleft palate lateral synechia syndrome in two patients and literature review.

Cleft palate lateral synechia (CPLS) syndrome is an extremely rare congenital malformation syndrome of unknown origin, characterized by the association of cleft palate and one or more intraoral lateral synechiae (OMIM # 119550). Fewer than 20 cases have been described to date. The clinical and histological findings and results of genetic investigations for two additional cases of CPLS are presented herein, in order to better delineate this syndrome, within the context of the relevant literature.

Manometric pattern progression in esophageal achalasia in the era of high-resolution manometry.

Esophageal manometry represents the gold standard technique for the diagnosis of esophageal achalasia because it can detect both the lack of lower esophageal sphincter (LES) relaxation and abnormal peristalsis. From the manometric standpoint, cases of achalasia can be segregated on the grounds of three clinically relevant patterns according to the Chicago Classification v3.0.

Real-time EndoFaster improves detection in chronic active gastritis.

is the most frequent cause of chronic active gastritis (CAG), namely the first step for gastric cancer development. When infection is not detected at histology, another test is advised. EndoFaster is novel device that reveal the presence of by determining ammonium concentration in the gastric juice during endoscopy.

Optimizing the searching for H. pylori in clinical practice with EndoFaster.

Background/aim: H. pylori plays a major role in gastroduodenal diseases. Since its incidence is decreasing in developed countries, gastric biopsies were negative in several patients managed in clinical practice.

Dynamic orthognathic surgical procedure (DOSP) in asymmetric maxillomandibular dysmorphism secondary to unilateral micrognathia: Outcomes of 12 consecutive cases.

This study aimed to evaluate the outcomes following a dynamic orthognathic surgical procedure performed at the end of growth to treat asymmetric maxillomandibular deformities linked to unilateral micrognathia when conventional orthognathic surgery was not feasible. The dynamic orthognathic surgical procedure (DOSP) combined concomitant mandibular distraction osteogenesis with contralateral poorly stabilized sagittal split osteotomy and Le Fort I osteotomy. Cephalometric studies were retrospectively conducted on pre- and postoperative lateral and frontal cephalographs, and maxillomandibular movements were calculated.

Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.

Syndromic craniosynostoses are defined by the premature fusion of one or more cranial and facial sutures, leading to skull vault deformation, and midfacial retrusion. More recently, mandibular shape modifications have been described in FGFR-related craniosynostoses, which represent almost 75% of the syndromic craniosynostoses. Here, further characterisation of the mandibular phenotype in FGFR-related craniosynostoses is provided in order to confirm mandibular shape modifications, as this could contribute to a better understanding of the involvement of the FGFR pathway in craniofacial development.

Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome.

Objective: Imprinting disorders (ID), such as Prader-Willi syndrome (PWS), are associated with sleep-disordered breathing (SDB). No data are available for Silver-Russell syndrome (SRS), another ID that shares clinical features with PWS, although many patients describe excessive daytime sleepiness, disturbed sleep, and snoring. The aim of this study was to characterize sleep in children with SRS and to evaluate the impact of recombinant growth hormone (rGH) therapy.

Conservative management is effective in unicystic ameloblastoma occurring from the neonatal period: A case report and a literature review.

Unicystic ameloblastoma (UA), a benign odontogenic tumor of the jaw, represents less than a third of all ameloblastomas and seems less aggressive than other types of ameloblastoma. We present here the first case of UA that developed prenatally and was successfully managed in the early neonatal period with marsupialization and curettage performed carefully to avoid injury to the tooth germ. BRAF and SMO mutations were not detected.

Data from a three-wave complete longitudinal design survey on career calling and related constructs (N = 6368).

This dataset provides de-identified raw responses to a non-anonymous three-wave online survey with a 12-month time lag. Data collection was part of a larger project on the development of career calling in Italian college students. The first wave was collected during the fall of 2014.

[Secondary nasal surgery with cleft palates].

Residual nasal deformity in patients with cleft palate remains the main demand of these patients. Performing primary nasal surgery has significantly improved the results. However, it is still often necessary to improve the nasal morphology.

Pediatric Nasal Reconstruction by Washio Procedure.

The use of the Washio retroauricular flap for nasal reconstruction has been infrequently covered in recent literature, particularly concerning the pediatric population. A retrospective study was conducted between 2014 and 2018 and included all pediatric patients who underwent a Washio retroauricular flap procedure for nasal reconstruction operated on by the same surgeon at a referral center for pediatric plastic and maxillofacial surgery. The mean age at the time of the first stage of the Washio procedure was just under 8 years of age (range: 6 years 3 months-8 years 10 months).

Maxillary shape after primary cleft closure and before alveolar bone graft in two different management protocols: A comparative morphometric study.

Aim And Scope: Result assessment in cleft surgery is a technical challenge and requires the development of dedicated morphometric tools. Two cohorts of patients managed according to two different protocols were assessed at similar ages and their palatal shape was compared using geometric morphometrics.

Material And Methods: Ten patients (protocol No.

Mandibular symphyseal distraction osteogenesis: 20 years of experience treating transverse deficiencies with an internal hybrid device.

Introduction: Transverse mandibular deficiency has been traditionally managed by orthodontic compensation. However, without resolving the underlying skeletal hypoplasia it leads to high relapse rates. Few studies have reviewed the long-term experience and potential complications of mandibular symphyseal distraction osteogenesis (MSDO) as an alternative treatment method.

Validity and measurement invariance of the Unified Multidimensional Calling Scale (UMCS): A three-wave survey study.

The accumulation of scientific knowledge on calling is limited by the absence of a common theoretical and measurement framework. Many different models of calling have been proposed, and we do not know how much research results that refer to a specific model are generalizable to different theoretical accounts of calling. In this article, we investigate whether two leading models of calling tackle the same construct.