A computed tomography-based comparative cephalometric analysis of the Italian craniofacial pattern through 2,700 years.

The aim of our study was to define the changes in morphovolumetric features of neurocranium, basicranium and splanchnocranium in the population of Campania, southern Italy, over the last 2,700 years. This was a very intense period for this region from both historical and evolutionary perspectives and was marked by the succession of colonisations, dominations and invasions by several European and non-European peoples, events that profoundly influenced the original genetic heritage, which subsequently became more complex. Unlike most previous authors, we based our craniometric comparative analysis on multidetector computed tomography (MDCT) studies of contemporary and ancient series dating to between the seventh and fifth centuries B.C. of skulls found in the Etruscan necropolis of Pompei and Pontecagnano. MDCT is extremely reliable in identifying landmarks and measuring linear and angular indices through the use of multiplanar and tridimensional reformations. While highlighting a remarkable stability of 22/32 of the indices considered, as an effect of the role of the genetic heritage in preserving morphovolumetric features in a given population, statistical analysis showed some interesting results: the main changes concerned the splanchnocranium and the occlusion, indicating a higher sensitivity of these districts to environmental factors, mainly related to diet. Conversely, neurobasicranial complex morphovolumetric features remained amazingly intact. In particular, the neurocranium increased in overall capacity in response to the growing brain and changed shape with a progressive shift to a dolichocranic, flattened frontal pattern; the basicranium shape was preserved, as indicated by the stability of the cranial base (NSBa) angle over time. The splanchnocranium, on the contrary, has undergone a dramatic involution, even conditioning gnathic structures with changes in palatal shape (more acute) and in the relationship between the jaws on the sagittal plane, resulting in increased prevalence of Angle's class I and III malocclusions.

[Craniofacial morphology and obstructive sleep apnoea-hypopnoea syndrome: a craniometric comparative analysis]. / Morfologia craniofacciale e sindrome delle apnee-ipopnee ostruttive nel sonno: un'analisi craniometrica comparativa.

PURPOSE: The aim of this study was to define the relationship between paediatric obstructive sleep apnoea-hypopnea syndrome (OSAHS) and craniofacial morphovolumetric features through comparative craniometric analyses between affected children and controls based on conventional cephalometry. MATERIALS AND METHODS: Cephalometric examinations of 40 children affected by OSAHS were retrospectively evaluated. Sixteen craniometric landmarks were identified, and 27 linear and angular indices related to craniofacial morphovolumetric features were measured. Subsequently, the same process of identifying landmarks and measuring indices was performed on the cephalometric examinations of 40 controls. For each index, we then calculated in both groups the mean, standard deviation, standard error and p value. By comparing the values obtained in the two series, we calculated the degree of significance of each difference between children with OSAHS and controls using the Student t test. RESULTS: Differences of only 5/27 linear and angular indices considered were not statistically significant between groups, thus confirming susceptibility to the disorder in relation to certain splanchnocranic morphovolumetric features. The most significant differences involved mandibular plane inclination and distance between landmark sella and hyoid bone, a reliable index being the vertical position of the latter. CONCLUSIONS: Despite the limitations associated with the 2D nature of conventional cephalometry, mainly related to projection and identification errors, and despite the upright position during examination, we consider the diagnostic value and information content of this technique high, thus reaffirming its role as a first-line imaging investigation in children with sleep-related breathing disorders.

Adult-onset pulmonary involvement in Niemann-Pick disease type B.

Niemann-Pick disease type B is caused by a deficiency in acid sphingomyelinase activity; among the six variants of Niemann-Pick disease known to date, it is the most frequently associated with lung involvement, a major cause of morbidity and mortality in this subtype in patients of all ages. Nevertheless, the vast majority of reports in the literature concern infantile forms, while less reported is, for several reasons, the onset in adults being consequently still poorly understood and characterized its clinical, radiographic and functional manifestations. We report a case of a 37 years-old female patient affected by subtype B since she was an infant, operated for aortic valve replacement two years before and came to our attention for the onset of a worsening exertional dyspnoea which proved, through a series of functional tests and radiological exams, to be a consequence of the diffuse lung involvement by the metabolic disorder; we performed a review on this topic through a Medline search of all the available "adult-onset" case reports published since the first description in 1964, also considering the possible association between NPDB and, more generally lysosomal storage disorders, and the valvular disease, already suggested by several Authors in previous works.