Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report

Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C (LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation (C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective.     

Signs and symptoms of temporomandibular disorders and their impact on psychosocial status in non‐patient university student's population

Background and Purpose. Temporomandibular disorders (TMD) exhibit a combination of signs and symptoms, mainly characterized by pain and dysfunction, which impairs the functional capacity of the mastication system. These symptoms may produce a negative impact on social activities, employment and leisure. The aim of this study was to early identify the signs and symptoms of TMD and their impact on daily life of non‐patient university students. Methods. Data were collected from 183 students of the dentistry course. The Axis II of the Research Diagnostic Criteria for Temporomandibular Disorders was administered and analyzed using Spearman test at a significance level of 0.05. Results. Among the 183 participants, 107 were women (58.47%) and 76 were men (41.53%). Age ranged from 18 to 47, with a mean age of 25.35 years. In relation to pain intensity and disability, 129 participants (70.88%) reported no pain in the previous 6 months. An analysis of depression revealed that 35 (19.67%) had moderate and 7 (3.83%) had severe depression. The assessment of nonspecific physical symptoms including pain revealed that nine (4.92%) exhibited moderate symptoms, and one (0.55%) exhibited severe symptoms. The nonspecific physical symptoms excluding items of pain analysis revealed that 44 (24.04%) exhibited moderate symptoms, and 91 (49.73%) exhibited severe. The functions reported as most adversely affected by jaw disability were yawning, eating hard foods, chewing, smiling and laughing. Regarding the habit, 64 (35%) confirmed having the nighttime and 59 daytime (32.3%) teeth grinding with a significant correlation with the four domains analyzed. A significant correlation was observed among all domains. Conclusion. This study analyzed a young population that exhibited para‐functional habits and nonspecific physical symptoms excluding pain that need some intervention since they could progress to a symptomatic TMD in future. Copyright © 2010 John Wiley & Sons, Ltd.     

Cardiac Mechanics Evaluated by Speckle Tracking Echocardiography

Natural myocardial markers, or speckles, originated from constructive and destructive interference of ultrasound in the tissues may provide early diagnosis of myocardial changes and be used in the prediction of some cardiac events. Due to its relatively temporal stability, speckles can be tracked by dedicated software along the cardiac cycle, enabling the analysis of the systolic and diastolic function. They are identified by either conventional 2D grey scale and by 3D echo, conferring independence of the insonation angle, thus allowing assessment of cardiac mechanics in the three spatial planes: longitudinal, circumferential, and radial. The purposes of the present paper are: to discuss the role and the meaning of cardiac strain obtained by speckle tracking during the evaluation of cardiac physiology and to discuss clinical applications of this novel echocardiographic technology.     

Correlation between ultrasound velocity and densitometry in fresh and demineralized cortical bone

OBJECTIVE:To compare ultrasound propagation velocity with densitometry in the diaphyseal compact cortical bone of whole sheep metatarsals.METHODS:The transverse ultrasound velocity and bone mineral density of 5-cm-long diaphyseal bone segments were first measured. The bone segments were then divided into four groups of 15 segments each and demineralized in an aqueous 0.5 N hydrochloric acid solution for 6, 12, 24 or 36 hours. All measurements were repeated after demineralization for each time duration and the values measured before and after demineralization were compared.RESULTS:Ultrasound velocity and bone mineral density decreased with demineralization time, and most differences in the pre- and post-demineralization values within each group and between groups were significant: A moderate correlation coefficient (r=0.75956) together with a moderate agreement was determined between both post-demineralization parameters, detected by the Bland-Altman method.CONCLUSION:We conclude that both ultrasound velocity and bone mineral density decrease as a result of demineralization, thus indicating that bone mineral content is of great importance for maintaining the acoustic parameters of cortical bone, as observed for cancellous bone. Ultrasound velocity can be used to evaluate both compact cortical bone quality and bone mineral density.     

Equations suggested by WHO to estimate height above 60 years of age do not fit Portuguese elderly: A new predictive model based on knee height

Aged individuals present a high prevalence of health problems that unable the correct measuring of height (e.g.: incapacity to stand up, spine deformities, inferior limb deformities, prosthesis and amputations). In populations 60 years of age or older not studied on predicting height, the World Health Organization suggests the use of Chumlea's 1992 equations, developed in United States and based on knee height, gender and age. These equations may not be applicable in other populations, as showed in Mexico. The study assessed 299 healthy Caucasian Portuguese aged 60 to 95. Data on gender, age, height and knee height were collected. Measurements were taken with a vertical stadiometer, as in the original study. The subjects studied presented an average age of 78.3 (SD = 8.9) for men and 73.5 (SD = 8.5) for women and average stature of 162.4 cm (SD = 6.0) for men and 152.2 cm (SD = 5.6) for women. Height and knee height showed strong correlations (Pearson 0.786 in men and 0.694 in women; P < 0.001). Our subjects were older and shorter than the ones in the original study. Chumlea's equations overestimated height 4.07 cm for men and 1.58 cm for women (P < 0.001). Although this study presents several limitations, the Chumlea's equations do not appear to be applicable to elderly Portuguese. A new predictive model was developed using multiple regression models. The equations obtained were (in cm): standing height (men) = 77.61 + 1.64 knee height; standing height (women) = 73.77 + 1.64 knee height. This model showed R² of 0.698 for women and 0.737 for men.