Diagnosi prenatale delle malformazioni fetali: ecografia e risonanza magnetica a confronto in 11 anni di esperienza

Obiettivo: Valutare l’accuratezza reciproca dell’ecografia “esperta” e della risonanza magnetica nelle diagnosi prenatale delle anomalie congenite. Materiali e metodi: Sono stati retrospettivamente valutati tutti i casi di malformazioni fetali sottoposte a ecografia “esperta” e risonanza magnetica nel nostro Policlinico da Ottobre 2001 a Ottobre 2012. L’età gestazionale media all’ecografia e alla risonanza magnetica sono state rispettivamente di 28 e 30 settimane. La diagnosi ecografica è stata confrontata con la risonanza e quindi con la diagnosi postnatale. Risultati: sono stati selezionati 383 casi, con diagnosi ecografica o sospetta malformazione fetale “complessa” o anamnesi ostetrica positiva infezioni prenatali, valutati con ecografia “esperta”, risonanza magnetica e completi di follow up. La popolazione di studio include: 196 anomalie del sistema nervoso centrale (51,2%), 73 difetti toracici (19,1%), 20 anomalie dell’area viso-collo (5,2%), 29 malformazioni del tratto gastrointestinale (7,6%), 37 difetti genito-urinari (9,7%) e 28 casi con altra indicazione (7,3%). Una concordanza tra ecografia, risonanza e diagnosi postnatale è stata osservata in 289 casi (75,5%) ed è stata maggiore per le anomalie del sistema nervoso centrale 156/196 casi (79,6%) rispetto ai difetti congeniti degli altri distretti anatomici 133/187 (71,1%). La risonanza ha aggiunto importanti informazioni diagnostiche in 42 casi (11%): 21 anomalie del sistema nervoso centrale, 2 difetti dell’area viso collo, 7 malformazioni toraciche, 6 anomalie del tratto gastrointestinale, 5 dell’apparato genitourinario e 1 caso di sospetta emivertebra lombare. L’ecografia è stata più accurata della risonanza in 15 casi (3,9%). In 37 casi (9,7%) entrambe le tecniche hanno dato esito diverso rispetto agli accertamenti postnatali. Conclusioni: l’ecografia prenatale rimane a tutt’oggi la principale metodica di imaging fetale. In alcuni casi complessi e/o dubbi sia del sistema nervoso centrale sia degli altri distretti anatomici la risonanza può aggiungere informazioni rilevanti.

Il ruolo dell’ecografia prenatale nella diagnosi precoce delle anomalie fetali della fossa cranica posteriore

Obiettivo: Valutare il ruolo brainstem-vermis angle (BV angle) a 16-18 settimane per la diagnosi precoce delle anomalie cistiche della fossa cranica posteriore. Metodi: Uno studio prospettico, multicentrico, osservazionale. Volumi ecografici tridimensionali della testa fetale sono stati acquisiti in feti a 16-18 settimane. Tre operatori di simile esperienza hanno misurato il BV angle nel piano sagittale come precedentemente descritto1,2 e hanno annotato se il quarto ventricolo era aperto sul piano assiale. Un follow-up dettagliato è stato ottenuto in tutti i casi. Risultati: Tra novembre 2009 e marzo 2011, 150 volumi sono stati acquisiti ad un’epoca gestazionale media di 16 settimane. A causa di una scarsa qualità delle immaginai, 49 volumi sono stati esclusi, con una popolazione finale di 101 casi. Di questi, 6 hanno ricevuto successivamente una diagnosi di malformazione di Dandy-Walker (DWM) e 2 di cisti della tasca di Blake (BPC), gli altri erano normali. In tutti i feti con anomalie cistiche della fossa cranica posteriore, il BV angle è risultato significativamente più ampio rispetto ai controlli (57.3+23.0° vs 9.4+7.7°, U-Mann Whitney test p<0.000005). Nel 90.3% dei feti normali, il BV angle era <20° e il quarto ventricolo era chiuso sul piano assiale. In 9 feti normali e nei casi con BPC, l’angolo era >20° ma <45° (25.8+5.6°) e il quarto ventricolo era aperto posteriormente sul piano assiale, ma solo utilizzando una scansione non convenzionale. In tutti i feti con DWM, il BV angle era >45° (67.9+13.9°) e il quarto ventricolo era aperto anche sul piano assiale standard. Conclusioni: Fino ad ora la diagnosi di anomalie cistiche della fossa cranica posteriore è stata consideratea difficile o impossibile prima di 20 settimane, a causa del presunto sviluppo tardivo del verme cerebellare. La nostra esperienza suggerisce che la misurazione del BV angle consente un’identificazione precisa di queste condizioni già a 16 settimane.

Guidelines of Special Care Dentistry in Patients with Chromosomal and Genetic syndromes

Chromosomal and genetic syndromes are frequently associated with dental and cranio-facial alterations. The aim of our study is to identify and describe the dental and craniofacial alterations typical of six genetic and chromosomal syndromes examined. Materials and Methods- A dental visit was performed to 195 patients referred from Sant’Orsola Hospital of Bologna, University of Bologna, to Service of Special Need Dentistry, Dental Clinic, Department of Biomedical and Neuromotor Science, University of Bologna. The patients recruited were 137 females and 58 males, in an age range of 3-49 years (mean age of 13.8±7.4). The total sample consisted of subjects affected with Down Syndrome (n=133), Familiar Hypophosphatemic Ricket (n=10), Muscular Dystrophies (n=12), Noonan Syndrome (n=13), Turner Syndrome (n=17), Williams Syndrome(n=10). A questionnaire regarding detailed medical and dental history, oral health and dietary habits, was filled by parents/caregivers, or patients themselves when possible. The intra-oral and extra-oral examination valued the presence of facial asymmetries, oral habits, dental and skeletal malocclusions, dental formula, dental anomalies, Plaque Index (Silness&LÖe Index), caries prevalence (dmft/DMFT index), gingivitis and periodontal disease, and mucosal lesions. Radiographic examinations (Intraoral radiographies, Orthopanoramic, Skull teleradiography) were executed according to patient’s age and treatment planning. A review of literature about each syndrome and its dental and cranio-facial characteristics and about caries, hygiene status and malocclusion prevalence on syndromic and non-syndromic population was performed. Results - The data of all the patients were collected in the “Data Collection Tables” created for each syndrome. General anamnesis information, oral hygiene habits and dmft/DMFT, PI, malocclusion prevalence were calculated and compared to syndromic and non-syndromic population results found in literature. Discussions and conclusions - Guidelines of Special Care dentistry were indicated for each syndrome, in relation to each syndrome features and individual patient characteristics.

Studio del possibile ruolo del complesso polycomb nel determinare la schisi del labbro e del palato

La labioschisi con o senza palatoschisi non-sindromica (NSCL/P) è tra le più frequenti alterazioni dello sviluppo embrionale, causata dall’interazione di fattori genetici e ambientali, moti dei quali ancora ignoti. L'obiettivo del mio progetto di Dottorato consiste nell’identificazione di fattori di rischio genetico in un processo a due stadi che prevede la selezione di geni candidati e la verifica del loro coinvolgimento nella determinazione della malformazione mediante studi di associazione. Ho analizzato alcuni polimorfismi a singolo nucleotide (SNPs) dei geni RFC1 e DHFR, appartenenti alla via metabolica dell’acido folico, evidenziando una debole associazione tra alcuni degli SNPs indagati e la NSCL/P nella popolazione italiana. Presso il laboratorio della Dott.ssa Mangold dell’Università di Bonn, ho valutato il ruolo di 15 diverse regioni cromosomiche nel determinare la suscettibilità alla malattia, evidenziando una significativa associazione per i marcatori localizzati in 8q24 e 1p22. Ho quindi rivolto la mia attenzione al ruolo del complesso Polycomb nell’insorgenza della schisi. Nell’uomo i due complessi Polycomb, PRC1 e PRC2, rimodellano la cromatina agendo da regolatori dei meccanismi trascrizionali alla base della differenziazione cellulare e dello sviluppo embrionale. Ho ipotizzato che mutazioni a carico di geni appartenenti a PRC2 possano essere considerati potenziali fattori di rischio genetico nel determinare la NSCL/P. Il razionale consiste nel fatto che JARID2, una proteina che interagisce con PRC2, è associata all’insorgenza della NSCL/P ed espressa a livello delle cellule epiteliali delle lamine palatine che si approssimano alla fusione. L’indagine condotta analizzando i geni di elementi o partner dei due complessi Polycomb, ha evidenziato un’associazione significativa con alcuni polimorfismi dei geni indagati, associazione ulteriormente confermata dall’analisi degli aplotipi. Le analisi condotte sui geni candidati mi hanno permesso di raccogliere dati interessanti sull’eziologia della malformazione. Studi indipendenti saranno necessari per poter validare l'associazione tra le varianti genetiche di questi geni candidati e la NSCL/P.

Ophthalmological findings in Joubert syndrome

Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. It has been associated with ocular and oculomotor abnormalities. The aim of our study was to extend the ophthalmic knowledge in JS and to add new findings.

Orthodontic therapy and gingival recession: a systematic review

To perform a systematic review on the effect of changes in incisor inclination owing to orthodontic treatment and the occurrence of gingival recession. PubMed, EMBASE Excerpta Medica and CENTRAL of the Cochrane Library were searched and a hand search was performed. From 1925 articles identified, 17 articles were finally included: six experimental animal studies and 11 retrospective clinical studies in humans. More proclined teeth compared with less proclined teeth or untreated teeth had in most studies a higher occurrence or severity of gingival recession. Contradictory results were found regarding a possible statistically significant correlation between the extent of gingival recession and the amount of incisor proclination during treatment, width of attached gingiva, hygiene, periodontal condition or thickness of the symphysis. There are no high quality animal or clinical studies on this topic. Movement of the incisors out of the osseous envelope of the alveolar process may be associated with a higher tendency for developing gingival recessions. The amount of recession found in studies with statistically significant differences between proclined and non-proclined incisors is small and the clinical consequence questionable. Because of the low level of evidence of the included studies, the results should be considered with caution. Further randomized clinical studies including clinical examination of hygiene and gingival condition before, during and after treatment are needed to clarify the effect of orthodontic changes in incisor inclination and the occurrence of gingival recession.

Comparison of two scoring systems for evaluation of treatment outcome in patients with complete bilateral cleft lip and palate

Objective : To compare two scoring systems: the Huddart/Bodenham system (HB system) and the Bauru-BCLP yardstick (BCLP yardstick), which classify treatment outcome in terms of dental arch relationships in patients with complete bilateral cleft lip and palate (CBCLP). The predictive value of these scoring systems for treatment outcome was also evaluated. Design : Retrospective longitudinal study. Patients : Dental arch relationships of 43 CBCLP patients were evaluated at 6, 9, and 12 years. Setting : Treatment outcome in BCLP patients using two scoring systems. Main Outcome Measures : For each age group, the HB scores were correlated with the BCLP yardstick scores using Spearman's correlation coefficient. The predictive value of the two scoring systems was evaluated by backward regression analysis. Results : Intraobserver Kappa values for the BCLP yardstick scoring for the two observers were .506 and .627, respectively, and the interobserver reliability ranged from .427 and .581. The intraobserver reliability for the HB system ranged from .92 to .97 and the interobserver reliability from .88 to .96. The BCLP yardstick scores of 6 and 9 years together were predictors for the outcome at 12 years (explained variance 41.3%). Adding the incisor and lateral HB scores in the regression model increased the explained variance to 67%. Conclusions : The BCLP yardstick and the HB system are reliable scoring systems for evaluation of dental arch relationships of CBCLP patients. The HB system categorizes treatment outcome into similar categories as the BCLP yardstick. In case a more sensitive measure of treatment outcome is needed, selectively both scoring systems should be used.

A new yardstick for rating dental arch relationship in patients with complete bilateral cleft lip and palate

Objective: To develop yardsticks for assessment of dental arch relationship in young individuals with repaired complete bilateral cleft lip and palate appropriate to different stages of dental development. Participants: Eleven cleft team orthodontists from five countries worked on the projects for 4 days. A total of 776 sets of standardized plaster models from 411 patients with operated complete bilateral cleft lip and palate were available for the exercise. Statistics: The interexaminer reliability was calculated using weighted kappa statistics. Results: The interrater weighted kappa scores were between .74 and .92, which is in the "good" to "very good" categories. Conclusions: Three bilateral cleft lip and palate yardsticks for different developmental stages of the dentition were made: one for the deciduous dentition (6-year-olds' yardstick), one for early mixed dentition (9-year-olds' yardstick), and one for early permanent dentition (12-year-olds' yardstick).

A longitudinal three-center study of dental arch relationship in patients with bilateral cleft lip and palate

OBJECTIVE: To compare and evaluate longitudinally the dental arch relationships from 4.5 to 13.5 years of age with the Bauru-BCLP Yardstick in a large sample of patients with bilateral cleft lip and palate (BCLP). DESIGN: Retrospective longitudinal intercenter outcome study. PATIENTS: Dental casts of 204 consecutive patients with complete BCLP were evaluated at 6, 9, and 12 years of age. All models were identified only by random identification numbers. SETTING: Three cleft palate centers with different treatment protocols. MAIN OUTCOME MEASURES: Dental arch relationships were categorized with the Bauru-BCLP yardstick. Increments for each interval (from 6 to 9 years, 6 to 12 years, and 9 to 12 years) were analyzed by logistic and linear regression models. RESULTS: There were no significant differences in outcome measures between the centers at age 12 or at age 9. At age 6, center B showed significantly better results (p=.027), but this difference diminished as the yardstick score for this group increased over time (linear regression analysis), the difference with the reference category (center C, boys) for the intervals 6 to 12 and 9 to 12 years being 10.4% (p=.041) and 12.9% (p=.009), respectively. CONCLUSIONS: Despite different treatment protocols, dental arch relationships in the three centers were comparable in final scores at age 9 and 12 years. Delaying hard palate closure and employing infant orthopedics did not appear to be advantageous in the long run. Premaxillary osteotomy employed in center B appeared to be associated with less favorable development of the dental arch relationship between 9 and 12 years.

An unusual cause of hemoptysis--aberrant origin of the left pulmonary artery from the ascending aorta in the adult

Aberrant origin of a pulmonary artery from the ascending aorta is an uncommon congenital vascular malformation with poor survival without surgery. In this case report, we describe the unusual late diagnosis of this congenital malformation in an otherwise asymptomatic young man presenting with mild hemoptysis. We review the natural and modified history of this defect and the relevant aspects of follow-up in adult life.

Incidental maxillary sinus findings in orthodontic patients: a radiographic analysis using cone-beam computed tomography (CBCT)

To determine the frequency of incidental maxillary sinus findings using cone-beam computed tomography (CBCT) images made for orthodontic purposes.

Techniques for assessing cardiac output and fetal cardiac function

Fetal echocardiography was initially used to diagnose structural heart disease, but recent interest has focused on functional assessment. Effects of extracardiac conditions on the cardiac function such as volume overload (in the recipient in twin-twin transfusion syndrome), a hyperdynamic circulation (arterio-venous malformation), cardiac compression (diaphragmatic hernia, lung tumours) and increased placental resistance (intrauterine growth restriction and placental insufficiency) can be studied by ultrasound and may guide decisions for intervention or delivery. A variety of functional tests can be used, but there is no single clinical standard. For some specific conditions, however, certain tests have shown diagnostic value.

Morphological integration between the cranial base and the face in children and adults

The primary aim of the present study was to assess morphological covariation between the face and the basicranium (midline and lateral), and to evaluate patterns of integration at two specific developmental stages. A group of 71 children (6-10 years) was compared with a group of 71 adults (20-35 years). Lateral cephalometric radiographs were digitized and a total of 28 landmarks were placed on three areas; the midline cranial base, the lateral cranial base and the face. Geometric morphometric methods were applied and partial least squares analysis was used to evaluate correlation between the three shape blocks. Morphological integration was tested both with and without removing the effect of allometry. In children, mainly the midline and, to a lesser extent, the lateral cranial base were moderately correlated to the face. In adults, the correlation between the face and the midline cranial base, which ceases development earlier than the lateral base, was reduced. However, the lateral cranial base retained and even strengthened its correlation to the face. This suggests that the duration of common developmental timing is an important factor that influences integration between craniofacial structures. However, despite the apparent switch of primary roles between the cranial bases during development, the patterns of integration remained stable, thereby supporting the role of genetics over function in the establishment and development of craniofacial shape.

A two-centre study on facial morphology in patients with complete bilateral cleft lip and palate at nine years of age

The aim of this study was to compare craniofacial morphology and soft tissue profiles in patients with complete bilateral cleft lip and palate at 9 years of age, treated in two European cleft centres with delayed hard palate closure but different treatment protocols. The cephalometric data of 83 consecutively treated patients were compared (Gothenburg, N=44; Nijmegen, N=39). In total, 18 hard tissue and 10 soft tissue landmarks were digitized by one operator. To determine the intra-observer reliability 20 cephalograms were digitized twice with a monthly interval. Paired t-test, Pearson correlation coefficients and multiple regression models were applied for statistical analysis. Hard and soft tissue data were superimposed using the Generalized Procrustes Analysis. In Nijmegen, the maxilla was protrusive for hard and soft tissue values (P=0.001, P=0.030, respectively) and the maxillary incisors were retroclined (P<0.001), influencing the nasolabial angle, which was increased in comparison with Gothenburg (P=0.004). In conclusion, both centres showed a favourable craniofacial form at 9-10 years of age, although there were significant differences in the maxillary prominence, the incisor inclination and soft tissue cephalometric values. Follow-up of these patients until facial growth has ceased, may elucidate components for outcome improvement.

Early alveolar bone grafting has a negative effect on maxillary dental arch dimensions of pre-school children with complete unilateral cleft lip and palate

To evaluate maxillary dental arch dimensions in pre-school children with a complete unilateral cleft lip and palate (CUCLP) after early alveolar bone grafting.