Effect of Orthognathic Surgery on the Posterior Airway Space in Patients Affected by Skeletal Class III Malocclusion

Introduction

Dentofacial deformity refers to deviations from normal facial proportions and dental relationships that are severe enough to be handicapping. These anomalies involve many aspects of patient’s life and are sometimes also associated with a reduction of pharyngeal air space. Through orthognathic surgery it is possible to treat dentofacial deformities: this kind of surgery has several effects on skeletal structures and it has changes, as it is demonstrated by many studies, also on the upper airways. The orthognathic surgeries commonly used to correct this deformity are the mandibular setback and the maxillary advancement procedures. This study aims to evaluate the effects of maxillary and mandibular surgery on pharyngeal airway dimensions in skeletal class III malocclusions.

Materials and methods

This study considers 76 patients, treated between 2007 and 2013 by maxillary advancement (11 patients), maxillary advancement and mandibular setback (39 patients), maxillary advancement, mandibular setback and genioplasty reduction (26 patients). Cranial latero-lateral radiography was used to compare oropharyngeal airway morphologies before and 1 year after surgery.

Conclusion

The surgeon should consider bimaxillary surgery rather than mandibular setback surgery to correct a class III deformity to prevent the development of obstructive sleep apnea syndrome; in fact, bimaxillary surgery might have less effect on reduction of the pharyngeal airway than mandibular setback surgery only.     

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients

More than 90% of all cases of congenital adrenal hyperplasia (CAH) result from steroid 21-hydroxylase gene (CYP21A2) mutations. The CYP21A2 gene is located in the human leukocyte antigen (HLA) class III region on the short arm of chromosome 6p21.3, along with an inactive pseudogene, CYP21A1P, that is 98% homologous in its coding sequence with CYP21A2. Most CYP21A2 mutations result from intergenic recombinations between CYP21A2 and the closely linked CYP21A1P pseudogene. Rare mutations not generated by gene conversion account for only 5% to 10% of 21-hydroxylase deficiency alleles. However, detection of these rare and spontaneous mutations has continued to expand worldwide. We identified 2 novel CYP21A2 missense mutations (p.H282N and p.Y191H) in 2 Italian patients with simple-virilizing and nonclassic CAH forms. Functional analysis of these CYP21A2 mutations was performed. Functional in vitro assay for mutagenized CYP21A2 enzymes was performed in transiently transfected mammalian cells to test the residual enzyme activity and the apparent kinetic values. The residual activities obtained allowed us to classify the p.H282N and p.Y191H variants as simple-virilizing and nonclassic CAH associated mutations, respectively. These results correlate with the rate of severity of the patients' disease. This finding provides a further contribution for assisting in the diagnosis of CAH patients.     

Basal cerebral computed tomography as diagnostic tool to improve patient selection in asymptomatic carotid artery stenosis

One-hundred patients were included to evaluate the role of cerebral computed tomography (CT) to improve patient selection in asymptomatic internal carotid stenosis. Symptomatic patients were assigned to group A, asymptomatic patients to group B. A cerebral CT pattern A was observed in groups A and B in 60% and 20%, respectively (P < .0001). Between A and B groups, type 6 plaques were found, respectively, in 26.7% and 7.5% of patients (P = .01); a type 5 in 51.7% and 45% (P = .32) of patients; and a type 4 in 21.7% and 47.5% of patients, respectively (P = .006). Within B group, the association of CT pattern A and histological plaque level 4, 5, and 6 was, respectively, 25% (P = .15), 50% (P = .53), and 25% (P = .16). In group B, a 7-fold risk increase in CT pattern A was found in patients with level 6 plaque. In asymptomatic patients with high-risk plaque, a basal cerebral CT scan can be used as diagnostic tool to improve patient selection for intervention.     

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

Respiratory chain disorders (RCDs) have been included in the differential diagnosis of adult-onset leukodystrophies. Here, we first report a 32-year-old female with an atypical, adult-onset, non-syndromic RCD due to a mitochondrial DNA deletion and manifesting as complicated ataxia. A ‘leukodystrophic’ pattern was found on brain MRI, but it was neither isolated nor predominant because of the presence of overt basal ganglia and infratentorial lesions, which led us to the proper diagnosis. Subsequently, we evaluated our series of patients with RCDs in order to verify whether a ‘leukodystrophic’ pattern with little or no involvement of deep grey structures and brainstem may be found in adult-onset RCDs, as reported in children. Among 52 patients with adult-onset RCDs, no case with a ‘leukodystrophic’ pattern was found, apart from three cases with a classical phenotype of mitochondrial neurogastrointestinal encephalopathy. In addition, no case of RCDs was found among six cases of adult-onset leukodystrophy of unknown origin and at least one feature suggestive of mitochondrial disease. The review of the literature was in agreement with these findings. Thus, we provide evidence that, unlike in children, RCDs should not be included in the differential diagnosis of adult-onset leukodystrophies, except when there are additional MRI findings or clinical features which unequivocally point towards a mitochondrial disorder.     

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

Journal of Neurology - Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in...     

SARS-CoV-2 and Placenta: New Insights and Perspectives

The study of SARS-CoV-2 positive pregnant women is of some importance for gynecologists, obstetricians, neonatologists and women themselves. In recent months, new works have tried to clarify what happens at the fetal–placental level in women positive for the virus, and different pathogenesis mechanisms have been proposed. Here, we present the results of a large series of placentas of Coronavirus disease (COVID) positive women, in a reference center for COVID-positive pregnancies, on which we conducted histological, immunohistochemical and electron microscopy investigations. A case–control study was conducted in order to highlight any histopathological alterations attributable to SARS-CoV-2. The prevalence of maternal vascular malperfusion was not significantly different between cases and controls (54.3% vs. 43.7% p = 0.19), whereas the differences with regard to fetal vascular malperfusion (21.1% vs. 4.2% p < 0.001) were significant. More frequent in cases with respect to controls were decidual arteriopathy (40.9% vs. 1.4% p < 0.0001), decidual inflammation (32.4% vs. 0.7% p < 0.0001), perivillous fibrin deposition (36.6% vs. 3.5% p < 0.0001) and fetal vessel thrombi (22.5% vs. 0.7% p < 0.0001). No significant differences in the percentage of terminal villous hyperplasia and chorioamnionitis were observed between the two groups. As the pandemic continues, these studies will become more urgent in order to clarify the possible mechanism of maternal–fetal transmission of the virus.