Claudia Dolci

A Family with Complete Resistance to Thyrotropin-Releasing Hormone

To the Editor: We report on a family with recessive resistance to the action of thyrotropin-releasing hormone (TRH) due to a nonsense homozygous mutation in the TRH receptor (TRHR) gene (p.R17X). W...

Blood pressure patterns in normal pregnancy and in pregnancy-induced hypertension, preeclampsia, and chronic hypertension

Objective To compare the 24-hour blood pressure (BP) pattern in physiologic pregnancy, pregnancy-induced hypertension, preeclampsia, and chronic hypertension. Methods We investigated four groups of women with singleton pregnancy: 73 controls, 48 patients with pregnancy-induced hypertension, 38 with preeclampsia, and 53 with mild to moderate chronic hypertension. The 24-hour BP monitoring was performed longitudinally in controls and in patients with chronic hypertension, and at the time of diagnosis in those with pregnancy-induced hypertension or preeclampsia. Results Nineteen thousand eight hundred seventy-two BP measurements were analyzed. In controls, the mean values of BP indices were lower than those first reported in nonpregnant women, and the acrophase was always localized in the first part of the afternoon. In pregnancy-induced hypertension and especially in preeclampsia, besides the obvious quantitative increase in BP, circadian BP oscillations were less pronounced than in controls, and the severity of hypertension seemed to favor the loss of diurnal rhythm. Conversely, in chronic hypertension, circadian oscillations were the same as in controls. Conclusion Standardized 24-hour BP monitoring during pregnancy allows quantitative and qualitative evaluations of the hypertensive status. However, if such a technique is used routinely in every clinical setting, we should establish specific thresholds of normality for pregnancy.

Circadian variations in expression of the trkB receptor in adult rat hippocampus

The expression of brain-derived neurotrophic factor (BDNF) in the central nervous system (CNS) and the expression of its high-affinity trkB receptor on neuron surfaces are known to depend on neuron activity. The expression of BDNF (mRNA and protein) and trkB mRNA shows circadian oscillations in rat hippocampal homogenates. We investigated circadian variations in trkB expression in specific areas of the adult rat hippocampal formation by immunohistochemistry. In sets of two experiments performed in the spring, 39 2-month-old male Wistar rats were accustomed to a 12-h light-12-h dark cycle for 2 weeks. Three animals were then sacrificed every 4 h. Forty-micrometer-thick coronal sections of hippocampal formation were obtained and processed for trkB immunohistochemistry. Cell staining intensity was assessed by image analysis of different hippocampal areas on five sections per animal. Circadian rhythmicity was evaluated by the cosinor method. Statistically significant circadian variations in trkB expression were found in dentate gyrus, entorhinal cortex, and the CA3 and hilar regions of the hippocampus, with highest expression during the first half of the dark (activity) period. These findings suggest a relationship between trkB expression and the physiological neuronal activation of wakefulness. TrkB receptor expression in the hippocampal regions studied was continuous and changes were gradual over the 24-h cycle, suggesting that more complex regulatory mechanisms also intervened.

Age- and sex-related changes in three-dimensional lip morphology

The objective of this study was to supply information about: (1) normal sex-related dimensions of mouth and lips (linear distances, ratios, angles, area, volume); and (2) growth changes between childhood and old age. The three-dimensional coordinates of several soft-tissue landmarks on the lips and face were obtained by a non-invasive, computerized electromagnetic digitizer in 532 male and 386 female healthy subjects aged 4-73 years. From the landmarks, linear distances (mouth width, width of the philtrum, vermilion heights of the upper, lower and total lips, total lip height), the vermilion height-to-mouth width ratio, areas (vermilion of the upper, lower and total lip) and volumes (upper, lower, and total lip volume) were calculated and averaged for age and sex. Comparisons were performed by factorial analysis of variance. Mouth width, width of the philtrum, total lip height, and lip volumes were significantly larger in men than in women (p<0.01), increased with age (p<0.001), and had age x sex interactions (p<0.001). Vermilion areas and heights of the lower and total lips progressively increased with age until late adolescence, and then decreased with aging (p<0.001). The vermilion height-to-mouth width ratio was larger in women than in men (p<0.001), and decreased with age (p<0.001). Data collected in the present investigation could serve as a database for the quantitative description of human lip morphology during normal growth, development and aging. Forensic applications (evaluations of traumas, craniofacial alterations, teratogenic-induced conditions, facial reconstruction, aging of living and dead persons, personal identification) may also benefit from age- and sex-based data banks.

Morphometry of the soft tissues of the orbital region in Northern Sudanese persons

The orbital region plays a predominant role in the evaluation of the craniofacial complex. No current normative data exist for Northern Sudanese subjects. In the current study information about normal sex- and age-related dimensions of the orbital region was provided. The three-dimensional coordinates of ten landmarks on the orbital soft tissues were obtained using a hand-held laser scanner in 654 healthy Northern Sudanese subjects aged 4-30 years. From the landmarks, biocular and intercanthal widths, paired height and inclination of the orbit relative to both the true horizontal (head in natural head position) and Frankfurt plane, length and inclination of the eye fissure, the relevant ratios, were calculated, and averaged for age and sex. Comparisons were performed by factorial analysis of variance. All analysed linear soft-tissue orbital dimensions, except intercanthal width and left orbital height, were significantly larger in men than in women (p<0.01). A significant sexual dimorphism was found also for the height-to-width ratios (larger in women in most age groups), the orbital inclinations vs. the true horizontal and Frankfurt plane (both measurements were almost always larger in men than in women), and the right side inclination of the eye fissure vs. the true horizontal (larger in women than in men), while no sex-related differences were observed for the left side inclination of the eye fissure vs. the true horizontal. All measurements but the right side inclination of the eye fissure vs. the true horizontal underwent significant modifications as a function of age, with several significant age×sex interactions. Biocular and intercanthal widths, orbital height, length of the eye fissure, all increased from childhood to young adulthood; in the second decade of life all age-related increments were larger in men than in women. Overall, when compared to literature data for African and Caucasoid subjects, several differences were found, pointing to the necessity of ethnic-specific data. Data collected in the present investigation could serve as a database for the quantitative description of human orbital morphology during normal growth and development. Forensic applications (evaluations of traumas, craniofacial alterations, teratogenic-induced conditions, facial reconstruction, ageing of living and dead people, personal identification) may also benefit from age- and sex-based data banks.

A quantitative three-dimensional assessment of abnormal variations in the facial soft-tissues of individuals with Down syndrome

Objective To supply quantitative information about the facial soft tissues of subjects with Down syndrome by using summary anthropometric measurements. Design, Setting, and Patients The three-dimensional coordinates of soft tissue facial landmarks were obtained using a computerized digitizer in 28 subjects with Down syndrome (11 girls and women and 17 boys and men aged 12 to 45 years) and 429 healthy controls matched for sex, age, and ethnicity. From the landmarks, 18 facial dimensions were calculated. Data were compared with those collected in healthy individuals by computing z-scores. Two summary anthropometric measurements for quantifying craniofacial variations were assessed in both the subjects with Down syndrome and the reference subjects: the mean z-score (an index of overall facial size) and its standard deviation, craniofacial variability index (an index of facial harmony). Results In subjects with Down syndrome, facial size was smaller than in normal individuals, and in 17 subjects the mean z-score fell outside the normal interval (mean ± 2 SD). Twenty subjects had a craniofacial variability index larger than the normal interval. Conclusions The facial soft tissue structures of subjects with Down syndrome differed from those of normal controls of the same age, sex, and ethnic group: a reduced facial size was coupled with a global anomalous relationship between individual measurements. The two indices allowed discriminating more than 89% of subjects with Down syndrome when compared with normal subjects.

Soft tissue facial morphometry before and after total oral rehabilitation with implant-supported prostheses.

Abstract The objective of the current study was to assess a low-cost, noninvasive facial morphometric digitizer to assist the practitioner in three-dimensional soft-tissue changes before and after oral rehabilitation. Twenty-two patients aged 45 to 82 years, all with edentulous maxilla and mandible, were assessed both before and after receiving their definitive complete implant-supported prostheses (each received 4–11 implants in each dental arch; full-arch fixed prostheses were made). The three-dimensional coordinates of 50 soft-tissue facial landmarks were collected with a noninvasive digitizer; labial and facial areas, volumes, angles, and distances were compared without and with the prostheses. Dental prostheses induced significant reductions in the nasolabial, mentolabial, and interlabial angles, with increased labial prominence (P < 0.05, Wilcoxon test). Lip vermilion area and volume significantly increased; significant increments were found in the vertical and anteroposterior labial dimensions. The presence of the dental prostheses significantly (P < 0.001) modified the three-dimensional positions of several soft-tissue facial landmarks. In conclusion, the current approach enabled quantitative evaluation of the final soft-tissue results of oral rehabilitation with implant-supported prostheses, without submitting the patients to invasive procedures. The method could assess the three-dimensional appearance of the facial soft tissues of the patient while planning the provisional prosthetic restoration, providing quantitative information to prepare the best definitive prosthesis.

Abnormal Variations in the Facial Soft Tissues of Individuals With Down Syndrome: Sudan Versus Italy.

Objective To provide quantitative information about the facial soft tissue of Italian and Northern Sudanese subjects with Down syndrome by using summary anthropometric measurements. Design, Setting, and Patients The three-dimensional coordinates of soft tissue facial landmarks were obtained using a computerized digitizer in 54 Italian subjects with Down syndrome (20 females and 34 males, 13 to 52 years), in 64 Northern Sudanese subjects with Down syndrome (18 females and 46 males, 5 to 34 years), and in 578 Italian and 653 Northern Sudanese reference subjects, matched for sex and age. From the landmarks, 16 facial dimensions were calculated. Data from subjects with Down syndrome were compared with those collected from control individuals by computing z scores. Two summary anthropometric measurements for quantifying craniofacial variations were obtained: the mean z score (an index of overall facial size) and its standard deviation, the craniofacial variability index (an index of facial harmony). Results In subjects with Down syndrome, facial size was significantly smaller and craniofacial variability was significantly greater than in typically developed individuals; 93% of Italian and 81% of Northern Sudanese subjects with Down syndrome had one or both values outside the normal interval. Overall, Italian subjects with Down syndrome differed more from the norm than did those from Northern Sudan. In the Northern Sudanese subjects, the mean z scores and the craniofacial variability index were significantly influenced by age: Older Northern Sudanese subjects with Down syndrome had smaller mean z scores and craniofacial variability index values than younger subjects. Conclusions The two ethnic groups had different alterations in their soft tissue facial dimensions that were partially influenced by age.

Comparison of soft-tissue orbital morphometry in attractive and normal Italian subjects

OBJECTIVE To identify esthetic characteristics of the orbital soft tissues of attractive Italian adult women and men. MATERIALS AND METHODS Three-dimensional computerized digitizers were used to collect the coordinates of facial landmarks in 199 healthy, normal subjects aged 18 to 30 years (71 women, 128 men; mean age, 22 years) and in 126 coetaneous attractive subjects (92 women, 34 men; mean age, 20 years) selected during beauty competitions. From the landmarks, six linear distances, two ratios, six angles, and two areas were calculated. Attractive subjects were compared with normal ones by computing z-scores. RESULTS Intercanthal width was reduced while eye fissure lengths were increased in both genders. Orbital heights (os-or) were increased only in attractive women, with a significant gender-related difference. The inclinations of the eye fissure were increased in attractive subjects, while the inclinations of the orbit were reduced. For several of the analyzed measurements, similar patterns of z-scores were observed for attractive men and women (r  =  .883). CONCLUSION Attractive women and men had several specific esthetic characteristics in their orbital soft tissues; esthetic reference values can be used to determine optimal goals in surgical treatment.

3D Craniofacial Morphometric Analysis of Young Subjects with Marfan Syndrome: A Preliminary Report

Marfan syndrome (MFS) is a rare autosomic dominant disease of connective tissues mostly due to mutations in the fibrillin 1 gene. Clinical manifestations of MFS include a variety of signs and symptoms, mainly affecting the heart, blood vessels, bones, joints and eyes, and comprising craniofacial alterations. At present, diagnosis of MFS is largely based on clinical signs and family history. However, it could may be difficult, as its manifestations vary greatly and they are not always present right away. Since a life-threatening complication of MFS is aortic dissection, an early diagnosis of the disorder is essential. We aim to better describe the face of patients with MFS, identifying new quantitative morphological features which could facilitate the early diagnosis of the disease. In the current preliminary study, a group of young subjects with MFS was investigated. Three-dimensional facial images of 3 girls and 8 boys aged 5-15 years were collected by stereophotogrammetry. From the coordinates of 50 anatomical facial landmarks, linear distances and angles were measured; z score values were calculated through the comparison with data obtained from 556 control subjects matched for gender, age, and ethnicity. All subjects with MFS showed a longer face than controls, mainly due to an increased middle third (mean z score = 1.7). They also showed a longer mandibular body (mean z score = 1.4) with a shorter ramus (mean z score = -1.4) and a greater facial divergence (mean z score = 2.2). The assessment of facial features of subjects with MFS pointed out some morphometric characteristics that had never been reported in literature, alongside with other well known alterations, and suggests the usefulness of a three-dimensional quantitative approach for the recognition of facial phenotypic features of the syndrome. Nevertheless, they need to be confirmed extending the study on more patients.